Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.44145570_44145605delCA2682581391GCKc.*1145_*1180del (n.*1145_*1180del)
c.*267_*302del (n.*267_*302del)
n.373_408del
c.181_216del (p.Ser61_Arg72del)
c.1150_1185del (p.Ser384_Arg395del)
c.1147_1182del (p.Ser383_Arg394del)
c.1210_1245del (p.Ser404_Arg415del)
n.159_194del
c.199_234del (p.Ser67_Arg78del)
c.1144_1179del (p.Ser382_Arg393del)
c.1096_1131del (p.Ser366_Arg377del)
n.527_562del
c.136_171del (p.Ser46_Arg57del)
c.7_42del (p.Ser3_Arg14del)
gnomAD v4
7g.44145596_44145615delinsGTTGATGAGCA1139532694GCKc.*1133_*1152delinsCTCATCAAC (n.*1133_*1152delinsCTCATCAAC)
c.*255_*274delinsCTCATCAAC (n.*255_*274delinsCTCATCAAC)
n.361_380delinsCTCATCAAC
c.169_188delinsCTCATCAAC (p.Ala57LeufsTer?)
c.1138_1157delinsCTCATCAAC (p.Ala380LeufsTer?)
c.1135_1154delinsCTCATCAAC (p.Ala379LeufsTer?)
c.1198_1217delinsCTCATCAAC (p.Ala400LeufsTer?)
n.147_166delinsCTCATCAAC
c.187_206delinsCTCATCAAC (p.Ala63LeufsTer?)
c.1132_1151delinsCTCATCAAC (p.Ala378LeufsTer?)
c.1084_1103delinsCTCATCAAC (p.Ala362LeufsTer?)
n.515_534delinsCTCATCAAC
c.124_143delinsCTCATCAAC (p.Ala42LeufsTer?)
c.-6_14delinsCTCATCAAC
7g.44145601_44145618delCA2695203012GCKc.*1132_*1149del (n.*1132_*1149del)
c.*254_*271del (n.*254_*271del)
n.360_377del
c.168_185del (p.Ala57_Ala62del)
c.1137_1154del (p.Ala380_Ala385del)
c.1134_1151del (p.Ala379_Ala384del)
c.1197_1214del (p.Ala400_Ala405del)
n.146_163del
c.186_203del (p.Ala63_Ala68del)
c.1131_1148del (p.Ala378_Ala383del)
c.1083_1100del (p.Ala362_Ala367del)
n.514_531del
c.123_140del (p.Ala42_Ala47del)
c.-7_11del
7g.44145600_44145617delinsCCGAGCACATGTGCGCAGCA1703612905GCKc.*1131_*1148delinsCTGCGCACATGTGCTCGG (n.*1131_*1148delinsCTGCGCACATGTGCTCGG)
c.*253_*270delinsCTGCGCACATGTGCTCGG (n.*253_*270delinsCTGCGCACATGTGCTCGG)
n.359_376delinsCTGCGCACATGTGCTCGG
c.167_184delinsCTGCGCACATGTGCTCGG (p.Ala56=)
c.1136_1153delinsCTGCGCACATGTGCTCGG (p.Ala379=)
c.1133_1150delinsCTGCGCACATGTGCTCGG (p.Ala378=)
c.1196_1213delinsCTGCGCACATGTGCTCGG (p.Ala399=)
n.145_162delinsCTGCGCACATGTGCTCGG
c.185_202delinsCTGCGCACATGTGCTCGG (p.Ala62=)
c.1130_1147delinsCTGCGCACATGTGCTCGG (p.Ala377=)
c.1082_1099delinsCTGCGCACATGTGCTCGG (p.Ala361=)
n.513_530delinsCTGCGCACATGTGCTCGG
c.122_139delinsCTGCGCACATGTGCTCGG (p.Ala41=)
c.-8_10delinsCTGCGCACATGTGCTCGG
7g.44145601C>ACA454863234GCKc.*1147G>T (n.*1147G>T)
c.*269G>T (n.*269G>T)
n.375G>T
c.183G>T (p.Ser61=)
c.1152G>T (p.Ser384=)
c.1149G>T (p.Ser383=)
c.1212G>T (p.Ser404=)
n.161G>T
c.201G>T (p.Ser67=)
c.1146G>T (p.Ser382=)
c.1098G>T (p.Ser366=)
n.529G>T
c.138G>T (p.Ser46=)
c.9G>T (p.Ser3=)
gnomAD v4
7g.44145601C=CA1703612907GCKc.*1147G= (n.*1147G=)
c.*269G= (n.*269G=)
n.375G=
c.183G= (p.Ser61=)
c.1152G= (p.Ser384=)
c.1149G= (p.Ser383=)
c.1212G= (p.Ser404=)
n.161G=
c.201G= (p.Ser67=)
c.1146G= (p.Ser382=)
c.1098G= (p.Ser366=)
n.529G=
c.138G= (p.Ser46=)
c.9G= (p.Ser3=)
7g.44145601C>GCA454863232GCKc.*1147G>C (n.*1147G>C)
c.*269G>C (n.*269G>C)
n.375G>C
c.183G>C (p.Ser61=)
c.1152G>C (p.Ser384=)
c.1149G>C (p.Ser383=)
c.1212G>C (p.Ser404=)
n.161G>C
c.201G>C (p.Ser67=)
c.1146G>C (p.Ser382=)
c.1098G>C (p.Ser366=)
n.529G>C
c.138G>C (p.Ser46=)
c.9G>C (p.Ser3=)
7g.44145601C>TCA454863233GCKc.*1147G>A (n.*1147G>A)
c.*269G>A (n.*269G>A)
n.375G>A
c.183G>A (p.Ser61=)
c.1152G>A (p.Ser384=)
c.1149G>A (p.Ser383=)
c.1212G>A (p.Ser404=)
n.161G>A
c.201G>A (p.Ser67=)
c.1146G>A (p.Ser382=)
c.1098G>A (p.Ser366=)
n.529G>A
c.138G>A (p.Ser46=)
c.9G>A (p.Ser3=)
dbSNP gnomAD v4
7g.44145601_44145602delinsCGCA1703612908GCKc.*1146_*1147delinsCG (n.*1146_*1147delinsCG)
c.*268_*269delinsCG (n.*268_*269delinsCG)
n.374_375delinsCG
c.182_183delinsCG (p.Ser61=)
c.1151_1152delinsCG (p.Ser384=)
c.1148_1149delinsCG (p.Ser383=)
c.1211_1212delinsCG (p.Ser404=)
n.160_161delinsCG
c.200_201delinsCG (p.Ser67=)
c.1145_1146delinsCG (p.Ser382=)
c.1097_1098delinsCG (p.Ser366=)
n.528_529delinsCG
c.137_138delinsCG (p.Ser46=)
c.8_9delinsCG (p.Ser3=)
7g.44145602_44145607dupCA2695203013GCKc.*1142_*1147dup (n.*1142_*1147dup)
c.*264_*269dup (n.*264_*269dup)
n.370_375dup
c.178_183dup (p.Ser61_Ala62insCysSer)
c.1147_1152dup (p.Ser384_Ala385insCysSer)
c.1144_1149dup (p.Ser383_Ala384insCysSer)
c.1207_1212dup (p.Ser404_Ala405insCysSer)
n.156_161dup
c.196_201dup (p.Ser67_Ala68insCysSer)
c.1141_1146dup (p.Ser382_Ala383insCysSer)
c.1093_1098dup (p.Ser366_Ala367insCysSer)
n.524_529dup
c.133_138dup (p.Ser46_Ala47insCysSer)
c.4_9dup (p.Ser3_Ala4insCysSer)
7g.44145603_44145619delCA658655962GCKc.*1131_*1147del (n.*1131_*1147del)
c.*253_*269del (n.*253_*269del)
n.359_375del
c.167_183del (p.Ala56GlyfsTer?)
c.1136_1152del (p.Ala379GlyfsTer?)
c.1133_1149del (p.Ala378GlyfsTer?)
c.1196_1212del (p.Ala399GlyfsTer?)
n.145_161del
c.185_201del (p.Ala62GlyfsTer?)
c.1130_1146del (p.Ala377GlyfsTer?)
c.1082_1098del (p.Ala361GlyfsTer?)
n.513_529del
c.122_138del (p.Ala41GlyfsTer?)
c.-8_9del
ClinVar dbSNP
7g.44145602delCA1139660056GCKc.*1146del (n.*1146del)
c.*268del (n.*268del)
n.374del
c.182del (p.Ser61TrpfsTer19)
c.1151del (p.Ser384TrpfsTer19)
c.1148del (p.Ser383TrpfsTer19)
c.1211del (p.Ser404TrpfsTer19)
n.160del
c.200del (p.Ser67TrpfsTer19)
c.1145del (p.Ser382TrpfsTer19)
c.1097del (p.Ser366TrpfsTer19)
n.528del
c.137del (p.Ser46TrpfsTer19)
c.8del (p.Ser3TrpfsTer19)
ClinVar dbSNP
7g.44145602G>ACA10581499GCKc.*1146C>T (n.*1146C>T)
c.*268C>T (n.*268C>T)
n.374C>T
c.182C>T (p.Ser61Leu)
c.1151C>T (p.Ser384Leu)
c.1148C>T (p.Ser383Leu)
c.1211C>T (p.Ser404Leu)
n.160C>T
c.200C>T (p.Ser67Leu)
c.1145C>T (p.Ser382Leu)
c.1097C>T (p.Ser366Leu)
n.528C>T
c.137C>T (p.Ser46Leu)
c.8C>T (p.Ser3Leu)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145602G>CCA367398735GCKc.*1146C>G (n.*1146C>G)
c.*268C>G (n.*268C>G)
n.374C>G
c.182C>G (p.Ser61Trp)
c.1151C>G (p.Ser384Trp)
c.1148C>G (p.Ser383Trp)
c.1211C>G (p.Ser404Trp)
n.160C>G
c.200C>G (p.Ser67Trp)
c.1145C>G (p.Ser382Trp)
c.1097C>G (p.Ser366Trp)
n.528C>G
c.137C>G (p.Ser46Trp)
c.8C>G (p.Ser3Trp)
ClinVar
7g.44145602G=CA1703612909GCKc.*1146C= (n.*1146C=)
c.*268C= (n.*268C=)
n.374C=
c.182C= (p.Ser61=)
c.1151C= (p.Ser384=)
c.1148C= (p.Ser383=)
c.1211C= (p.Ser404=)
n.160C=
c.200C= (p.Ser67=)
c.1145C= (p.Ser382=)
c.1097C= (p.Ser366=)
n.528C=
c.137C= (p.Ser46=)
c.8C= (p.Ser3=)
7g.44145602G>TCA4239423GCKc.*1146C>A (n.*1146C>A)
c.*268C>A (n.*268C>A)
n.374C>A
c.182C>A (p.Ser61Ter)
c.1151C>A (p.Ser384Ter)
c.1148C>A (p.Ser383Ter)
c.1211C>A (p.Ser404Ter)
n.160C>A
c.200C>A (p.Ser67Ter)
c.1145C>A (p.Ser382Ter)
c.1097C>A (p.Ser366Ter)
n.528C>A
c.137C>A (p.Ser46Ter)
c.8C>A (p.Ser3Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145603A=CA1703612910GCKc.*1145T= (n.*1145T=)
c.*267T= (n.*267T=)
n.373T=
c.181T= (p.Ser61=)
c.1150T= (p.Ser384=)
c.1147T= (p.Ser383=)
c.1210T= (p.Ser404=)
n.159T=
c.199T= (p.Ser67=)
c.1144T= (p.Ser382=)
c.1096T= (p.Ser366=)
n.527T=
c.136T= (p.Ser46=)
c.7T= (p.Ser3=)
7g.44145603A>CCA4239424GCKc.*1145T>G (n.*1145T>G)
c.*267T>G (n.*267T>G)
n.373T>G
c.181T>G (p.Ser61Ala)
c.1150T>G (p.Ser384Ala)
c.1147T>G (p.Ser383Ala)
c.1210T>G (p.Ser404Ala)
n.159T>G
c.199T>G (p.Ser67Ala)
c.1144T>G (p.Ser382Ala)
c.1096T>G (p.Ser366Ala)
n.527T>G
c.136T>G (p.Ser46Ala)
c.7T>G (p.Ser3Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145603A>GCA367398737GCKc.*1145T>C (n.*1145T>C)
c.*267T>C (n.*267T>C)
n.373T>C
c.181T>C (p.Ser61Pro)
c.1150T>C (p.Ser384Pro)
c.1147T>C (p.Ser383Pro)
c.1210T>C (p.Ser404Pro)
n.159T>C
c.199T>C (p.Ser67Pro)
c.1144T>C (p.Ser382Pro)
c.1096T>C (p.Ser366Pro)
n.527T>C
c.136T>C (p.Ser46Pro)
c.7T>C (p.Ser3Pro)
ClinVar dbSNP
7g.44145603A>TCA367398738GCKc.*1145T>A (n.*1145T>A)
c.*267T>A (n.*267T>A)
n.373T>A
c.181T>A (p.Ser61Thr)
c.1150T>A (p.Ser384Thr)
c.1147T>A (p.Ser383Thr)
c.1210T>A (p.Ser404Thr)
n.159T>A
c.199T>A (p.Ser67Thr)
c.1144T>A (p.Ser382Thr)
c.1096T>A (p.Ser366Thr)
n.527T>A
c.136T>A (p.Ser46Thr)
c.7T>A (p.Ser3Thr)
ClinVar
7g.44145604G>ACA454863238GCKc.*1144C>T (n.*1144C>T)
c.*266C>T (n.*266C>T)
n.372C>T
c.180C>T (p.Cys60=)
c.1149C>T (p.Cys383=)
c.1146C>T (p.Cys382=)
c.1209C>T (p.Cys403=)
n.158C>T
c.198C>T (p.Cys66=)
c.1143C>T (p.Cys381=)
c.1095C>T (p.Cys365=)
n.526C>T
c.135C>T (p.Cys45=)
c.6C>T (p.Cys2=)
gnomAD v4
7g.44145604G>CCA367398740GCKc.*1144C>G (n.*1144C>G)
c.*266C>G (n.*266C>G)
n.372C>G
c.180C>G (p.Cys60Trp)
c.1149C>G (p.Cys383Trp)
c.1146C>G (p.Cys382Trp)
c.1209C>G (p.Cys403Trp)
n.158C>G
c.198C>G (p.Cys66Trp)
c.1143C>G (p.Cys381Trp)
c.1095C>G (p.Cys365Trp)
n.526C>G
c.135C>G (p.Cys45Trp)
c.6C>G (p.Cys2Trp)
7g.44145604G=CA1703612911GCKc.*1144C= (n.*1144C=)
c.*266C= (n.*266C=)
n.372C=
c.180C= (p.Cys60=)
c.1149C= (p.Cys383=)
c.1146C= (p.Cys382=)
c.1209C= (p.Cys403=)
n.158C=
c.198C= (p.Cys66=)
c.1143C= (p.Cys381=)
c.1095C= (p.Cys365=)
n.526C=
c.135C= (p.Cys45=)
c.6C= (p.Cys2=)
7g.44145604G>TCA367398741GCKc.*1144C>A (n.*1144C>A)
c.*266C>A (n.*266C>A)
n.372C>A
c.180C>A (p.Cys60Ter)
c.1149C>A (p.Cys383Ter)
c.1146C>A (p.Cys382Ter)
c.1209C>A (p.Cys403Ter)
n.158C>A
c.198C>A (p.Cys66Ter)
c.1143C>A (p.Cys381Ter)
c.1095C>A (p.Cys365Ter)
n.526C>A
c.135C>A (p.Cys45Ter)
c.6C>A (p.Cys2Ter)
ClinVar dbSNP
7g.44145605C>ACA367398742GCKc.*1143G>T (n.*1143G>T)
c.*265G>T (n.*265G>T)
n.371G>T
c.179G>T (p.Cys60Phe)
c.1148G>T (p.Cys383Phe)
c.1145G>T (p.Cys382Phe)
c.1208G>T (p.Cys403Phe)
n.157G>T
c.197G>T (p.Cys66Phe)
c.1142G>T (p.Cys381Phe)
c.1094G>T (p.Cys365Phe)
n.525G>T
c.134G>T (p.Cys45Phe)
c.5G>T (p.Cys2Phe)
7g.44145605C=CA1703612912GCKc.*1143G= (n.*1143G=)
c.*265G= (n.*265G=)
n.371G=
c.179G= (p.Cys60=)
c.1148G= (p.Cys383=)
c.1145G= (p.Cys382=)
c.1208G= (p.Cys403=)
n.157G=
c.197G= (p.Cys66=)
c.1142G= (p.Cys381=)
c.1094G= (p.Cys365=)
n.525G=
c.134G= (p.Cys45=)
c.5G= (p.Cys2=)
7g.44145605C>GCA367398745GCKc.*1143G>C (n.*1143G>C)
c.*265G>C (n.*265G>C)
n.371G>C
c.179G>C (p.Cys60Ser)
c.1148G>C (p.Cys383Ser)
c.1145G>C (p.Cys382Ser)
c.1208G>C (p.Cys403Ser)
n.157G>C
c.197G>C (p.Cys66Ser)
c.1142G>C (p.Cys381Ser)
c.1094G>C (p.Cys365Ser)
n.525G>C
c.134G>C (p.Cys45Ser)
c.5G>C (p.Cys2Ser)
ClinVar dbSNP
7g.44145605C>TCA367398751GCKc.*1143G>A (n.*1143G>A)
c.*265G>A (n.*265G>A)
n.371G>A
c.179G>A (p.Cys60Tyr)
c.1148G>A (p.Cys383Tyr)
c.1145G>A (p.Cys382Tyr)
c.1208G>A (p.Cys403Tyr)
n.157G>A
c.197G>A (p.Cys66Tyr)
c.1142G>A (p.Cys381Tyr)
c.1094G>A (p.Cys365Tyr)
n.525G>A
c.134G>A (p.Cys45Tyr)
c.5G>A (p.Cys2Tyr)
ClinVar dbSNP
7g.44145606delCA2580612100GCKc.*1142del (n.*1142del)
c.*264del (n.*264del)
n.370del
c.178del (p.Cys60AlafsTer20)
c.1147del (p.Cys383AlafsTer20)
c.1144del (p.Cys382AlafsTer20)
c.1207del (p.Cys403AlafsTer20)
n.156del
c.196del (p.Cys66AlafsTer20)
c.1141del (p.Cys381AlafsTer20)
c.1093del (p.Cys365AlafsTer20)
n.524del
c.133del (p.Cys45AlafsTer20)
c.4del (p.Cys2AlafsTer20)
ClinVar
7g.44145606A=CA1703612913GCKc.*1142T= (n.*1142T=)
c.*264T= (n.*264T=)
n.370T=
c.178T= (p.Cys60=)
c.1147T= (p.Cys383=)
c.1144T= (p.Cys382=)
c.1207T= (p.Cys403=)
n.156T=
c.196T= (p.Cys66=)
c.1141T= (p.Cys381=)
c.1093T= (p.Cys365=)
n.524T=
c.133T= (p.Cys45=)
c.4T= (p.Cys2=)
7g.44145606A>CCA367398753GCKc.*1142T>G (n.*1142T>G)
c.*264T>G (n.*264T>G)
n.370T>G
c.178T>G (p.Cys60Gly)
c.1147T>G (p.Cys383Gly)
c.1144T>G (p.Cys382Gly)
c.1207T>G (p.Cys403Gly)
n.156T>G
c.196T>G (p.Cys66Gly)
c.1141T>G (p.Cys381Gly)
c.1093T>G (p.Cys365Gly)
n.524T>G
c.133T>G (p.Cys45Gly)
c.4T>G (p.Cys2Gly)
ClinVar gnomAD v4
7g.44145606A>GCA367398754GCKc.*1142T>C (n.*1142T>C)
c.*264T>C (n.*264T>C)
n.370T>C
c.178T>C (p.Cys60Arg)
c.1147T>C (p.Cys383Arg)
c.1144T>C (p.Cys382Arg)
c.1207T>C (p.Cys403Arg)
n.156T>C
c.196T>C (p.Cys66Arg)
c.1141T>C (p.Cys381Arg)
c.1093T>C (p.Cys365Arg)
n.524T>C
c.133T>C (p.Cys45Arg)
c.4T>C (p.Cys2Arg)
ClinVar dbSNP
7g.44145606A>TCA367398756GCKc.*1142T>A (n.*1142T>A)
c.*264T>A (n.*264T>A)
n.370T>A
c.178T>A (p.Cys60Ser)
c.1147T>A (p.Cys383Ser)
c.1144T>A (p.Cys382Ser)
c.1207T>A (p.Cys403Ser)
n.156T>A
c.196T>A (p.Cys66Ser)
c.1141T>A (p.Cys381Ser)
c.1093T>A (p.Cys365Ser)
n.524T>A
c.133T>A (p.Cys45Ser)
c.4T>A (p.Cys2Ser)
7g.44145607C>ACA367398761GCKc.*1141G>T (n.*1141G>T)
c.*263G>T (n.*263G>T)
n.369G>T
c.177G>T (p.Met59Ile)
c.1146G>T (p.Met382Ile)
c.1143G>T (p.Met381Ile)
c.1206G>T (p.Met402Ile)
n.155G>T
c.195G>T (p.Met65Ile)
c.1140G>T (p.Met380Ile)
c.1092G>T (p.Met364Ile)
n.523G>T
c.132G>T (p.Met44Ile)
c.3G>T (p.Met1Ile)
7g.44145607C>GCA367398760GCKc.*1141G>C (n.*1141G>C)
c.*263G>C (n.*263G>C)
n.369G>C
c.177G>C (p.Met59Ile)
c.1146G>C (p.Met382Ile)
c.1143G>C (p.Met381Ile)
c.1206G>C (p.Met402Ile)
n.155G>C
c.195G>C (p.Met65Ile)
c.1140G>C (p.Met380Ile)
c.1092G>C (p.Met364Ile)
n.523G>C
c.132G>C (p.Met44Ile)
c.3G>C (p.Met1Ile)
7g.44145607C>TCA367398758GCKc.*1141G>A (n.*1141G>A)
c.*263G>A (n.*263G>A)
n.369G>A
c.177G>A (p.Met59Ile)
c.1146G>A (p.Met382Ile)
c.1143G>A (p.Met381Ile)
c.1206G>A (p.Met402Ile)
n.155G>A
c.195G>A (p.Met65Ile)
c.1140G>A (p.Met380Ile)
c.1092G>A (p.Met364Ile)
n.523G>A
c.132G>A (p.Met44Ile)
c.3G>A (p.Met1Ile)
7g.44145608A=CA1703612914GCKc.*1140T= (n.*1140T=)
c.*262T= (n.*262T=)
n.368T=
c.176T= (p.Met59=)
c.1145T= (p.Met382=)
c.1142T= (p.Met381=)
c.1205T= (p.Met402=)
n.154T=
c.194T= (p.Met65=)
c.1139T= (p.Met380=)
c.1091T= (p.Met364=)
n.522T=
c.131T= (p.Met44=)
c.2T= (p.Met1=)
7g.44145608A>CCA213719GCKc.*1140T>G (n.*1140T>G)
c.*262T>G (n.*262T>G)
n.368T>G
c.176T>G (p.Met59Arg)
c.1145T>G (p.Met382Arg)
c.1142T>G (p.Met381Arg)
c.1205T>G (p.Met402Arg)
n.154T>G
c.194T>G (p.Met65Arg)
c.1139T>G (p.Met380Arg)
c.1091T>G (p.Met364Arg)
n.522T>G
c.131T>G (p.Met44Arg)
c.2T>G (p.Met1Arg)
ClinVar dbSNP
7g.44145608A>GCA367398764GCKc.*1140T>C (n.*1140T>C)
c.*262T>C (n.*262T>C)
n.368T>C
c.176T>C (p.Met59Thr)
c.1145T>C (p.Met382Thr)
c.1142T>C (p.Met381Thr)
c.1205T>C (p.Met402Thr)
n.154T>C
c.194T>C (p.Met65Thr)
c.1139T>C (p.Met380Thr)
c.1091T>C (p.Met364Thr)
n.522T>C
c.131T>C (p.Met44Thr)
c.2T>C (p.Met1Thr)
ClinVar gnomAD v4
7g.44145608A>TCA367398767GCKc.*1140T>A (n.*1140T>A)
c.*262T>A (n.*262T>A)
n.368T>A
c.176T>A (p.Met59Lys)
c.1145T>A (p.Met382Lys)
c.1142T>A (p.Met381Lys)
c.1205T>A (p.Met402Lys)
n.154T>A
c.194T>A (p.Met65Lys)
c.1139T>A (p.Met380Lys)
c.1091T>A (p.Met364Lys)
n.522T>A
c.131T>A (p.Met44Lys)
c.2T>A (p.Met1Lys)
ClinVar dbSNP
7g.44145608_44145609delCA2580077154GCKc.*1139_*1140del (n.*1139_*1140del)
c.*261_*262del (n.*261_*262del)
n.367_368del
c.175_176del (p.Met59ValfsTer?)
c.1144_1145del (p.Met382ValfsTer?)
c.1141_1142del (p.Met381ValfsTer?)
c.1204_1205del (p.Met402ValfsTer?)
n.153_154del
c.193_194del (p.Met65ValfsTer?)
c.1138_1139del (p.Met380ValfsTer?)
c.1090_1091del (p.Met364ValfsTer?)
n.521_522del
c.130_131del (p.Met44ValfsTer?)
c.1_2del (p.Met1ValfsTer?)
ClinVar
7g.44145609T>ACA367398769GCKc.*1139A>T (n.*1139A>T)
c.*261A>T (n.*261A>T)
n.367A>T
c.175A>T (p.Met59Leu)
c.1144A>T (p.Met382Leu)
c.1141A>T (p.Met381Leu)
c.1204A>T (p.Met402Leu)
n.153A>T
c.193A>T (p.Met65Leu)
c.1138A>T (p.Met380Leu)
c.1090A>T (p.Met364Leu)
n.521A>T
c.130A>T (p.Met44Leu)
c.1A>T (p.Met1Leu)
gnomAD v4
7g.44145609T>CCA367398772GCKc.*1139A>G (n.*1139A>G)
c.*261A>G (n.*261A>G)
n.367A>G
c.175A>G (p.Met59Val)
c.1144A>G (p.Met382Val)
c.1141A>G (p.Met381Val)
c.1204A>G (p.Met402Val)
n.153A>G
c.193A>G (p.Met65Val)
c.1138A>G (p.Met380Val)
c.1090A>G (p.Met364Val)
n.521A>G
c.130A>G (p.Met44Val)
c.1A>G (p.Met1Val)
gnomAD v4
7g.44145609T>GCA4239425GCKc.*1139A>C (n.*1139A>C)
c.*261A>C (n.*261A>C)
n.367A>C
c.175A>C (p.Met59Leu)
c.1144A>C (p.Met382Leu)
c.1141A>C (p.Met381Leu)
c.1204A>C (p.Met402Leu)
n.153A>C
c.193A>C (p.Met65Leu)
c.1138A>C (p.Met380Leu)
c.1090A>C (p.Met364Leu)
n.521A>C
c.130A>C (p.Met44Leu)
c.1A>C (p.Met1Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145609T=CA1703612915GCKc.*1139A= (n.*1139A=)
c.*261A= (n.*261A=)
n.367A=
c.175A= (p.Met59=)
c.1144A= (p.Met382=)
c.1141A= (p.Met381=)
c.1204A= (p.Met402=)
n.153A=
c.193A= (p.Met65=)
c.1138A= (p.Met380=)
c.1090A= (p.Met364=)
n.521A=
c.130A= (p.Met44=)
c.1A= (p.Met1=)
7g.44145609_44145610insATGTCA2697557249GCKc.*1139_*1140insCATA (n.*1139_*1140insCATA)
c.*261_*262insCATA (n.*261_*262insCATA)
n.367_368insCATA
c.175_176insCATA (p.Met59ThrfsTer?)
c.1144_1145insCATA (p.Met382ThrfsTer?)
c.1141_1142insCATA (p.Met381ThrfsTer?)
c.1204_1205insCATA (p.Met402ThrfsTer?)
n.153_154insCATA
c.193_194insCATA (p.Met65ThrfsTer?)
c.1138_1139insCATA (p.Met380ThrfsTer?)
c.1090_1091insCATA (p.Met364ThrfsTer?)
n.521_522insCATA
c.130_131insCATA (p.Met44ThrfsTer?)
c.1_2insCATA (p.Met1ThrfsTer?)
ClinVar
7g.44145610G>ACA454863243GCKc.*1138C>T (n.*1138C>T)
c.*260C>T (n.*260C>T)
n.366C>T
c.174C>T (p.His58=)
c.1143C>T (p.His381=)
c.1140C>T (p.His380=)
c.1203C>T (p.His401=)
n.152C>T
c.192C>T (p.His64=)
c.1137C>T (p.His379=)
c.1089C>T (p.His363=)
n.520C>T
c.129C>T (p.His43=)
c.-1C>T (n.-1C>T)
7g.44145610G>CCA367398774GCKc.*1138C>G (n.*1138C>G)
c.*260C>G (n.*260C>G)
n.366C>G
c.174C>G (p.His58Gln)
c.1143C>G (p.His381Gln)
c.1140C>G (p.His380Gln)
c.1203C>G (p.His401Gln)
n.152C>G
c.192C>G (p.His64Gln)
c.1137C>G (p.His379Gln)
c.1089C>G (p.His363Gln)
n.520C>G
c.129C>G (p.His43Gln)
c.-1C>G (n.-1C>G)
7g.44145610G=CA1703612916GCKc.*1138C= (n.*1138C=)
c.*260C= (n.*260C=)
n.366C=
c.174C= (p.His58=)
c.1143C= (p.His381=)
c.1140C= (p.His380=)
c.1203C= (p.His401=)
n.152C=
c.192C= (p.His64=)
c.1137C= (p.His379=)
c.1089C= (p.His363=)
n.520C=
c.129C= (p.His43=)
c.-1C= (n.-1C=)
7g.44145610G>TCA4239426GCKc.*1138C>A (n.*1138C>A)
c.*260C>A (n.*260C>A)
n.366C>A
c.174C>A (p.His58Gln)
c.1143C>A (p.His381Gln)
c.1140C>A (p.His380Gln)
c.1203C>A (p.His401Gln)
n.152C>A
c.192C>A (p.His64Gln)
c.1137C>A (p.His379Gln)
c.1089C>A (p.His363Gln)
n.520C>A
c.129C>A (p.His43Gln)
c.-1C>A (n.-1C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145611T>ACA367398778GCKc.*1137A>T (n.*1137A>T)
c.*259A>T (n.*259A>T)
n.365A>T
c.173A>T (p.His58Leu)
c.1142A>T (p.His381Leu)
c.1139A>T (p.His380Leu)
c.1202A>T (p.His401Leu)
n.151A>T
c.191A>T (p.His64Leu)
c.1136A>T (p.His379Leu)
c.1088A>T (p.His363Leu)
n.519A>T
c.128A>T (p.His43Leu)
c.-2A>T (n.-2A>T)
7g.44145611T>CCA367398781GCKc.*1137A>G (n.*1137A>G)
c.*259A>G (n.*259A>G)
n.365A>G
c.173A>G (p.His58Arg)
c.1142A>G (p.His381Arg)
c.1139A>G (p.His380Arg)
c.1202A>G (p.His401Arg)
n.151A>G
c.191A>G (p.His64Arg)
c.1136A>G (p.His379Arg)
c.1088A>G (p.His363Arg)
n.519A>G
c.128A>G (p.His43Arg)
c.-2A>G (n.-2A>G)
dbSNP gnomAD v4
7g.44145611T>GCA367398780GCKc.*1137A>C (n.*1137A>C)
c.*259A>C (n.*259A>C)
n.365A>C
c.173A>C (p.His58Pro)
c.1142A>C (p.His381Pro)
c.1139A>C (p.His380Pro)
c.1202A>C (p.His401Pro)
n.151A>C
c.191A>C (p.His64Pro)
c.1136A>C (p.His379Pro)
c.1088A>C (p.His363Pro)
n.519A>C
c.128A>C (p.His43Pro)
c.-2A>C (n.-2A>C)
ClinVar dbSNP
7g.44145611_44145620delinsTGCGCAGCGCCA1703612917GCKc.*1128_*1137delinsGCGCTGCGCA (n.*1128_*1137delinsGCGCTGCGCA)
c.*250_*259delinsGCGCTGCGCA (n.*250_*259delinsGCGCTGCGCA)
n.356_365delinsGCGCTGCGCA
c.164_173delinsGCGCTGCGCA (p.Arg55=)
c.1133_1142delinsGCGCTGCGCA (p.Arg378=)
c.1130_1139delinsGCGCTGCGCA (p.Arg377=)
c.1193_1202delinsGCGCTGCGCA (p.Arg398=)
n.142_151delinsGCGCTGCGCA
c.182_191delinsGCGCTGCGCA (p.Arg61=)
c.1127_1136delinsGCGCTGCGCA (p.Arg376=)
c.1079_1088delinsGCGCTGCGCA (p.Arg360=)
n.510_519delinsGCGCTGCGCA
c.119_128delinsGCGCTGCGCA (p.Arg40=)
c.-11_-2delinsGCGCTGCGCA (n.-11_-2delinsGCGCTGCGCA)
7g.44145612G>ACA367398783GCKc.*1136C>T (n.*1136C>T)
c.*258C>T (n.*258C>T)
n.364C>T
c.172C>T (p.His58Tyr)
c.1141C>T (p.His381Tyr)
c.1138C>T (p.His380Tyr)
c.1201C>T (p.His401Tyr)
n.150C>T
c.190C>T (p.His64Tyr)
c.1135C>T (p.His379Tyr)
c.1087C>T (p.His363Tyr)
n.518C>T
c.127C>T (p.His43Tyr)
c.-3C>T (n.-3C>T)
7g.44145612G>CCA367398784GCKc.*1136C>G (n.*1136C>G)
c.*258C>G (n.*258C>G)
n.364C>G
c.172C>G (p.His58Asp)
c.1141C>G (p.His381Asp)
c.1138C>G (p.His380Asp)
c.1201C>G (p.His401Asp)
n.150C>G
c.190C>G (p.His64Asp)
c.1135C>G (p.His379Asp)
c.1087C>G (p.His363Asp)
n.518C>G
c.127C>G (p.His43Asp)
c.-3C>G (n.-3C>G)
7g.44145612G>TCA367398788GCKc.*1136C>A (n.*1136C>A)
c.*258C>A (n.*258C>A)
n.364C>A
c.172C>A (p.His58Asn)
c.1141C>A (p.His381Asn)
c.1138C>A (p.His380Asn)
c.1201C>A (p.His401Asn)
n.150C>A
c.190C>A (p.His64Asn)
c.1135C>A (p.His379Asn)
c.1087C>A (p.His363Asn)
n.518C>A
c.127C>A (p.His43Asn)
c.-3C>A (n.-3C>A)
7g.44145615_44145623delCA645369436GCKc.*1128_*1136del (n.*1128_*1136del)
c.*250_*258del (n.*250_*258del)
n.356_364del
c.164_172del (p.Arg55_Ala57del)
c.1133_1141del (p.Arg378_Ala380del)
c.1130_1138del (p.Arg377_Ala379del)
c.1193_1201del (p.Arg398_Ala400del)
n.142_150del
c.182_190del (p.Arg61_Ala63del)
c.1127_1135del (p.Arg376_Ala378del)
c.1079_1087del (p.Arg360_Ala362del)
n.510_518del
c.119_127del (p.Arg40_Ala42del)
c.-11_-3del (n.-11_-3del)
ClinVar dbSNP
7g.44145613C>ACA454863245GCKc.*1135G>T (n.*1135G>T)
c.*257G>T (n.*257G>T)
n.363G>T
c.171G>T (p.Ala57=)
c.1140G>T (p.Ala380=)
c.1137G>T (p.Ala379=)
c.1200G>T (p.Ala400=)
n.149G>T
c.189G>T (p.Ala63=)
c.1134G>T (p.Ala378=)
c.1086G>T (p.Ala362=)
n.517G>T
c.126G>T (p.Ala42=)
c.-4G>T (n.-4G>T)
gnomAD v4
7g.44145613C=CA1703612918GCKc.*1135G= (n.*1135G=)
c.*257G= (n.*257G=)
n.363G=
c.171G= (p.Ala57=)
c.1140G= (p.Ala380=)
c.1137G= (p.Ala379=)
c.1200G= (p.Ala400=)
n.149G=
c.189G= (p.Ala63=)
c.1134G= (p.Ala378=)
c.1086G= (p.Ala362=)
n.517G=
c.126G= (p.Ala42=)
c.-4G= (n.-4G=)
7g.44145613C>GCA454863246GCKc.*1135G>C (n.*1135G>C)
c.*257G>C (n.*257G>C)
n.363G>C
c.171G>C (p.Ala57=)
c.1140G>C (p.Ala380=)
c.1137G>C (p.Ala379=)
c.1200G>C (p.Ala400=)
n.149G>C
c.189G>C (p.Ala63=)
c.1134G>C (p.Ala378=)
c.1086G>C (p.Ala362=)
n.517G>C
c.126G>C (p.Ala42=)
c.-4G>C (n.-4G>C)
dbSNP
7g.44145613C>TCA4239427GCKc.*1135G>A (n.*1135G>A)
c.*257G>A (n.*257G>A)
n.363G>A
c.171G>A (p.Ala57=)
c.1140G>A (p.Ala380=)
c.1137G>A (p.Ala379=)
c.1200G>A (p.Ala400=)
n.149G>A
c.189G>A (p.Ala63=)
c.1134G>A (p.Ala378=)
c.1086G>A (p.Ala362=)
n.517G>A
c.126G>A (p.Ala42=)
c.-4G>A (n.-4G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145618_44145640delCA2695203016GCKc.*1113_*1135del (n.*1113_*1135del)
c.*235_*257del (n.*235_*257del)
n.341_363del
c.149_171del (p.Glu50AlafsTer?)
c.1118_1140del (p.Glu373AlafsTer?)
c.1115_1137del (p.Glu372AlafsTer?)
c.1178_1200del (p.Glu393AlafsTer?)
n.127_149del
c.167_189del (p.Glu56AlafsTer?)
c.1112_1134del (p.Glu371AlafsTer?)
c.1064_1086del (p.Glu355AlafsTer?)
n.495_517del
c.104_126del (p.Glu35AlafsTer?)
c.-26_-4del (n.-26_-4del)
7g.44145614G>ACA367398790GCKc.*1134C>T (n.*1134C>T)
c.*256C>T (n.*256C>T)
n.362C>T
c.170C>T (p.Ala57Val)
c.1139C>T (p.Ala380Val)
c.1136C>T (p.Ala379Val)
c.1199C>T (p.Ala400Val)
n.148C>T
c.188C>T (p.Ala63Val)
c.1133C>T (p.Ala378Val)
c.1085C>T (p.Ala362Val)
n.516C>T
c.125C>T (p.Ala42Val)
c.-5C>T (n.-5C>T)
ClinVar dbSNP gnomAD v4
7g.44145614G>CCA367398793GCKc.*1134C>G (n.*1134C>G)
c.*256C>G (n.*256C>G)
n.362C>G
c.170C>G (p.Ala57Gly)
c.1139C>G (p.Ala380Gly)
c.1136C>G (p.Ala379Gly)
c.1199C>G (p.Ala400Gly)
n.148C>G
c.188C>G (p.Ala63Gly)
c.1133C>G (p.Ala378Gly)
c.1085C>G (p.Ala362Gly)
n.516C>G
c.125C>G (p.Ala42Gly)
c.-5C>G (n.-5C>G)
ClinVar dbSNP
7g.44145614G=CA1703612919GCKc.*1134C= (n.*1134C=)
c.*256C= (n.*256C=)
n.362C=
c.170C= (p.Ala57=)
c.1139C= (p.Ala380=)
c.1136C= (p.Ala379=)
c.1199C= (p.Ala400=)
n.148C=
c.188C= (p.Ala63=)
c.1133C= (p.Ala378=)
c.1085C= (p.Ala362=)
n.516C=
c.125C= (p.Ala42=)
c.-5C= (n.-5C=)
7g.44145614G>TCA213717GCKc.*1134C>A (n.*1134C>A)
c.*256C>A (n.*256C>A)
n.362C>A
c.170C>A (p.Ala57Glu)
c.1139C>A (p.Ala380Glu)
c.1136C>A (p.Ala379Glu)
c.1199C>A (p.Ala400Glu)
n.148C>A
c.188C>A (p.Ala63Glu)
c.1133C>A (p.Ala378Glu)
c.1085C>A (p.Ala362Glu)
n.516C>A
c.125C>A (p.Ala42Glu)
c.-5C>A (n.-5C>A)
ClinVar dbSNP gnomAD v4
7g.44145615C>ACA367398795GCKc.*1133G>T (n.*1133G>T)
c.*255G>T (n.*255G>T)
n.361G>T
c.169G>T (p.Ala57Ser)
c.1138G>T (p.Ala380Ser)
c.1135G>T (p.Ala379Ser)
c.1198G>T (p.Ala400Ser)
n.147G>T
c.187G>T (p.Ala63Ser)
c.1132G>T (p.Ala378Ser)
c.1084G>T (p.Ala362Ser)
n.515G>T
c.124G>T (p.Ala42Ser)
c.-6G>T (n.-6G>T)
7g.44145615C>GCA367398797GCKc.*1133G>C (n.*1133G>C)
c.*255G>C (n.*255G>C)
n.361G>C
c.169G>C (p.Ala57Pro)
c.1138G>C (p.Ala380Pro)
c.1135G>C (p.Ala379Pro)
c.1198G>C (p.Ala400Pro)
n.147G>C
c.187G>C (p.Ala63Pro)
c.1132G>C (p.Ala378Pro)
c.1084G>C (p.Ala362Pro)
n.515G>C
c.124G>C (p.Ala42Pro)
c.-6G>C (n.-6G>C)
7g.44145615C>TCA367398799GCKc.*1133G>A (n.*1133G>A)
c.*255G>A (n.*255G>A)
n.361G>A
c.169G>A (p.Ala57Thr)
c.1138G>A (p.Ala380Thr)
c.1135G>A (p.Ala379Thr)
c.1198G>A (p.Ala400Thr)
n.147G>A
c.187G>A (p.Ala63Thr)
c.1132G>A (p.Ala378Thr)
c.1084G>A (p.Ala362Thr)
n.515G>A
c.124G>A (p.Ala42Thr)
c.-6G>A (n.-6G>A)
gnomAD v4
7g.44145616A=CA1703612920GCKc.*1132T= (n.*1132T=)
c.*254T= (n.*254T=)
n.360T=
c.168T= (p.Ala56=)
c.1137T= (p.Ala379=)
c.1134T= (p.Ala378=)
c.1197T= (p.Ala399=)
n.146T=
c.186T= (p.Ala62=)
c.1131T= (p.Ala377=)
c.1083T= (p.Ala361=)
n.514T=
c.123T= (p.Ala41=)
c.-7T= (n.-7T=)
7g.44145616A>CCA454863248GCKc.*1132T>G (n.*1132T>G)
c.*254T>G (n.*254T>G)
n.360T>G
c.168T>G (p.Ala56=)
c.1137T>G (p.Ala379=)
c.1134T>G (p.Ala378=)
c.1197T>G (p.Ala399=)
n.146T>G
c.186T>G (p.Ala62=)
c.1131T>G (p.Ala377=)
c.1083T>G (p.Ala361=)
n.514T>G
c.123T>G (p.Ala41=)
c.-7T>G (n.-7T>G)
7g.44145616A>GCA454863250GCKc.*1132T>C (n.*1132T>C)
c.*254T>C (n.*254T>C)
n.360T>C
c.168T>C (p.Ala56=)
c.1137T>C (p.Ala379=)
c.1134T>C (p.Ala378=)
c.1197T>C (p.Ala399=)
n.146T>C
c.186T>C (p.Ala62=)
c.1131T>C (p.Ala377=)
c.1083T>C (p.Ala361=)
n.514T>C
c.123T>C (p.Ala41=)
c.-7T>C (n.-7T>C)
gnomAD v4
7g.44145616A>TCA454863252GCKc.*1132T>A (n.*1132T>A)
c.*254T>A (n.*254T>A)
n.360T>A
c.168T>A (p.Ala56=)
c.1137T>A (p.Ala379=)
c.1134T>A (p.Ala378=)
c.1197T>A (p.Ala399=)
n.146T>A
c.186T>A (p.Ala62=)
c.1131T>A (p.Ala377=)
c.1083T>A (p.Ala361=)
n.514T>A
c.123T>A (p.Ala41=)
c.-7T>A (n.-7T>A)
dbSNP gnomAD v3 gnomAD v4
7g.44145617G>ACA341585GCKc.*1131C>T (n.*1131C>T)
c.*253C>T (n.*253C>T)
n.359C>T
c.167C>T (p.Ala56Val)
c.1136C>T (p.Ala379Val)
c.1133C>T (p.Ala378Val)
c.1196C>T (p.Ala399Val)
n.145C>T
c.185C>T (p.Ala62Val)
c.1130C>T (p.Ala377Val)
c.1082C>T (p.Ala361Val)
n.513C>T
c.122C>T (p.Ala41Val)
c.-8C>T (n.-8C>T)
ClinVar dbSNP
7g.44145617G>CCA367398802GCKc.*1131C>G (n.*1131C>G)
c.*253C>G (n.*253C>G)
n.359C>G
c.167C>G (p.Ala56Gly)
c.1136C>G (p.Ala379Gly)
c.1133C>G (p.Ala378Gly)
c.1196C>G (p.Ala399Gly)
n.145C>G
c.185C>G (p.Ala62Gly)
c.1130C>G (p.Ala377Gly)
c.1082C>G (p.Ala361Gly)
n.513C>G
c.122C>G (p.Ala41Gly)
c.-8C>G (n.-8C>G)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145617G=CA1703612921GCKc.*1131C= (n.*1131C=)
c.*253C= (n.*253C=)
n.359C=
c.167C= (p.Ala56=)
c.1136C= (p.Ala379=)
c.1133C= (p.Ala378=)
c.1196C= (p.Ala399=)
n.145C=
c.185C= (p.Ala62=)
c.1130C= (p.Ala377=)
c.1082C= (p.Ala361=)
n.513C=
c.122C= (p.Ala41=)
c.-8C= (n.-8C=)
7g.44145617G>TCA367398804GCKc.*1131C>A (n.*1131C>A)
c.*253C>A (n.*253C>A)
n.359C>A
c.167C>A (p.Ala56Asp)
c.1136C>A (p.Ala379Asp)
c.1133C>A (p.Ala378Asp)
c.1196C>A (p.Ala399Asp)
n.145C>A
c.185C>A (p.Ala62Asp)
c.1130C>A (p.Ala377Asp)
c.1082C>A (p.Ala361Asp)
n.513C>A
c.122C>A (p.Ala41Asp)
c.-8C>A (n.-8C>A)
ClinVar
7g.44145622_44145623delCA2580612101GCKc.*1130_*1131del (n.*1130_*1131del)
c.*252_*253del (n.*252_*253del)
n.358_359del
c.166_167del (p.Ala56CysfsTer?)
c.1135_1136del (p.Ala379CysfsTer?)
c.1132_1133del (p.Ala378CysfsTer?)
c.1195_1196del (p.Ala399CysfsTer?)
n.144_145del
c.184_185del (p.Ala62CysfsTer?)
c.1129_1130del (p.Ala377CysfsTer?)
c.1081_1082del (p.Ala361CysfsTer?)
n.512_513del
c.121_122del (p.Ala41CysfsTer?)
c.-9_-8del (n.-9_-8del)
ClinVar
7g.44145618C>ACA367398806GCKc.*1130G>T (n.*1130G>T)
c.*252G>T (n.*252G>T)
n.358G>T
c.166G>T (p.Ala56Ser)
c.1135G>T (p.Ala379Ser)
c.1132G>T (p.Ala378Ser)
c.1195G>T (p.Ala399Ser)
n.144G>T
c.184G>T (p.Ala62Ser)
c.1129G>T (p.Ala377Ser)
c.1081G>T (p.Ala361Ser)
n.512G>T
c.121G>T (p.Ala41Ser)
c.-9G>T (n.-9G>T)
gnomAD v4
7g.44145618C=CA1703612922GCKc.*1130G= (n.*1130G=)
c.*252G= (n.*252G=)
n.358G=
c.166G= (p.Ala56=)
c.1135G= (p.Ala379=)
c.1132G= (p.Ala378=)
c.1195G= (p.Ala399=)
n.144G=
c.184G= (p.Ala62=)
c.1129G= (p.Ala377=)
c.1081G= (p.Ala361=)
n.512G=
c.121G= (p.Ala41=)
c.-9G= (n.-9G=)
7g.44145618C>GCA367398808GCKc.*1130G>C (n.*1130G>C)
c.*252G>C (n.*252G>C)
n.358G>C
c.166G>C (p.Ala56Pro)
c.1135G>C (p.Ala379Pro)
c.1132G>C (p.Ala378Pro)
c.1195G>C (p.Ala399Pro)
n.144G>C
c.184G>C (p.Ala62Pro)
c.1129G>C (p.Ala377Pro)
c.1081G>C (p.Ala361Pro)
n.512G>C
c.121G>C (p.Ala41Pro)
c.-9G>C (n.-9G>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145618C>TCA126216GCKc.*1130G>A (n.*1130G>A)
c.*252G>A (n.*252G>A)
n.358G>A
c.166G>A (p.Ala56Thr)
c.1135G>A (p.Ala379Thr)
c.1132G>A (p.Ala378Thr)
c.1195G>A (p.Ala399Thr)
n.144G>A
c.184G>A (p.Ala62Thr)
c.1129G>A (p.Ala377Thr)
c.1081G>A (p.Ala361Thr)
n.512G>A
c.121G>A (p.Ala41Thr)
c.-9G>A (n.-9G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145621_44145632delCA2695203036GCKc.*1119_*1130del (n.*1119_*1130del)
c.*241_*252del (n.*241_*252del)
n.347_358del
c.155_166del (p.Val52_Arg55del)
c.1124_1135del (p.Val375_Arg378del)
c.1121_1132del (p.Val374_Arg377del)
c.1184_1195del (p.Val395_Arg398del)
n.133_144del
c.173_184del (p.Val58_Arg61del)
c.1118_1129del (p.Val373_Arg376del)
c.1070_1081del (p.Val357_Arg360del)
n.501_512del
c.110_121del (p.Val37_Arg40del)
c.-20_-9del (n.-20_-9del)
7g.44145619G>ACA454863255GCKc.*1129C>T (n.*1129C>T)
c.*251C>T (n.*251C>T)
n.357C>T
c.165C>T (p.Arg55=)
c.1134C>T (p.Arg378=)
c.1131C>T (p.Arg377=)
c.1194C>T (p.Arg398=)
n.143C>T
c.183C>T (p.Arg61=)
c.1128C>T (p.Arg376=)
c.1080C>T (p.Arg360=)
n.511C>T
c.120C>T (p.Arg40=)
c.-10C>T (n.-10C>T)
dbSNP gnomAD v2
7g.44145619G>CCA454863256GCKc.*1129C>G (n.*1129C>G)
c.*251C>G (n.*251C>G)
n.357C>G
c.165C>G (p.Arg55=)
c.1134C>G (p.Arg378=)
c.1131C>G (p.Arg377=)
c.1194C>G (p.Arg398=)
n.143C>G
c.183C>G (p.Arg61=)
c.1128C>G (p.Arg376=)
c.1080C>G (p.Arg360=)
n.511C>G
c.120C>G (p.Arg40=)
c.-10C>G (n.-10C>G)
7g.44145619G=CA1703612923GCKc.*1129C= (n.*1129C=)
c.*251C= (n.*251C=)
n.357C=
c.165C= (p.Arg55=)
c.1134C= (p.Arg378=)
c.1131C= (p.Arg377=)
c.1194C= (p.Arg398=)
n.143C=
c.183C= (p.Arg61=)
c.1128C= (p.Arg376=)
c.1080C= (p.Arg360=)
n.511C=
c.120C= (p.Arg40=)
c.-10C= (n.-10C=)
7g.44145619G>TCA454863257GCKc.*1129C>A (n.*1129C>A)
c.*251C>A (n.*251C>A)
n.357C>A
c.165C>A (p.Arg55=)
c.1134C>A (p.Arg378=)
c.1131C>A (p.Arg377=)
c.1194C>A (p.Arg398=)
n.143C>A
c.183C>A (p.Arg61=)
c.1128C>A (p.Arg376=)
c.1080C>A (p.Arg360=)
n.511C>A
c.120C>A (p.Arg40=)
c.-10C>A (n.-10C>A)
gnomAD v4
7g.44145620C>ACA367398811GCKc.*1128G>T (n.*1128G>T)
c.*250G>T (n.*250G>T)
n.356G>T
c.164G>T (p.Arg55Leu)
c.1133G>T (p.Arg378Leu)
c.1130G>T (p.Arg377Leu)
c.1193G>T (p.Arg398Leu)
n.142G>T
c.182G>T (p.Arg61Leu)
c.1127G>T (p.Arg376Leu)
c.1079G>T (p.Arg360Leu)
n.510G>T
c.119G>T (p.Arg40Leu)
c.-11G>T (n.-11G>T)
ClinVar dbSNP
7g.44145620C=CA1703612924GCKc.*1128G= (n.*1128G=)
c.*250G= (n.*250G=)
n.356G=
c.164G= (p.Arg55=)
c.1133G= (p.Arg378=)
c.1130G= (p.Arg377=)
c.1193G= (p.Arg398=)
n.142G=
c.182G= (p.Arg61=)
c.1127G= (p.Arg376=)
c.1079G= (p.Arg360=)
n.510G=
c.119G= (p.Arg40=)
c.-11G= (n.-11G=)
7g.44145620C>GCA367398812GCKc.*1128G>C (n.*1128G>C)
c.*250G>C (n.*250G>C)
n.356G>C
c.164G>C (p.Arg55Pro)
c.1133G>C (p.Arg378Pro)
c.1130G>C (p.Arg377Pro)
c.1193G>C (p.Arg398Pro)
n.142G>C
c.182G>C (p.Arg61Pro)
c.1127G>C (p.Arg376Pro)
c.1079G>C (p.Arg360Pro)
n.510G>C
c.119G>C (p.Arg40Pro)
c.-11G>C (n.-11G>C)
7g.44145620C>TCA213715GCKc.*1128G>A (n.*1128G>A)
c.*250G>A (n.*250G>A)
n.356G>A
c.164G>A (p.Arg55His)
c.1133G>A (p.Arg378His)
c.1130G>A (p.Arg377His)
c.1193G>A (p.Arg398His)
n.142G>A
c.182G>A (p.Arg61His)
c.1127G>A (p.Arg376His)
c.1079G>A (p.Arg360His)
n.510G>A
c.119G>A (p.Arg40His)
c.-11G>A (n.-11G>A)
ClinVar dbSNP gnomAD v4
7g.44145621G>ACA367398826GCKc.*1127C>T (n.*1127C>T)
c.*249C>T (n.*249C>T)
n.355C>T
c.163C>T (p.Arg55Cys)
c.1132C>T (p.Arg378Cys)
c.1129C>T (p.Arg377Cys)
c.1192C>T (p.Arg398Cys)
n.141C>T
c.181C>T (p.Arg61Cys)
c.1126C>T (p.Arg376Cys)
c.1078C>T (p.Arg360Cys)
n.509C>T
c.118C>T (p.Arg40Cys)
c.-12C>T (n.-12C>T)
ClinVar dbSNP gnomAD v2
7g.44145621G>CCA367398817GCKc.*1127C>G (n.*1127C>G)
c.*249C>G (n.*249C>G)
n.355C>G
c.163C>G (p.Arg55Gly)
c.1132C>G (p.Arg378Gly)
c.1129C>G (p.Arg377Gly)
c.1192C>G (p.Arg398Gly)
n.141C>G
c.181C>G (p.Arg61Gly)
c.1126C>G (p.Arg376Gly)
c.1078C>G (p.Arg360Gly)
n.509C>G
c.118C>G (p.Arg40Gly)
c.-12C>G (n.-12C>G)
gnomAD v4
7g.44145621G=CA1703612925GCKc.*1127C= (n.*1127C=)
c.*249C= (n.*249C=)
n.355C=
c.163C= (p.Arg55=)
c.1132C= (p.Arg378=)
c.1129C= (p.Arg377=)
c.1192C= (p.Arg398=)
n.141C=
c.181C= (p.Arg61=)
c.1126C= (p.Arg376=)
c.1078C= (p.Arg360=)
n.509C=
c.118C= (p.Arg40=)
c.-12C= (n.-12C=)
7g.44145621G>TCA367398819GCKc.*1127C>A (n.*1127C>A)
c.*249C>A (n.*249C>A)
n.355C>A
c.163C>A (p.Arg55Ser)
c.1132C>A (p.Arg378Ser)
c.1129C>A (p.Arg377Ser)
c.1192C>A (p.Arg398Ser)
n.141C>A
c.181C>A (p.Arg61Ser)
c.1126C>A (p.Arg376Ser)
c.1078C>A (p.Arg360Ser)
n.509C>A
c.118C>A (p.Arg40Ser)
c.-12C>A (n.-12C>A)
ClinVar gnomAD v4
7g.44145622C>ACA454863264GCKc.*1126G>T (n.*1126G>T)
c.*248G>T (n.*248G>T)
n.354G>T
c.162G>T (p.Thr54=)
c.1131G>T (p.Thr377=)
c.1128G>T (p.Thr376=)
c.1191G>T (p.Thr397=)
n.140G>T
c.180G>T (p.Thr60=)
c.1125G>T (p.Thr375=)
c.1077G>T (p.Thr359=)
n.508G>T
c.117G>T (p.Thr39=)
c.-13G>T (n.-13G>T)
dbSNP gnomAD v2 gnomAD v4
7g.44145622C=CA1703612926GCKc.*1126G= (n.*1126G=)
c.*248G= (n.*248G=)
n.354G=
c.162G= (p.Thr54=)
c.1131G= (p.Thr377=)
c.1128G= (p.Thr376=)
c.1191G= (p.Thr397=)
n.140G=
c.180G= (p.Thr60=)
c.1125G= (p.Thr375=)
c.1077G= (p.Thr359=)
n.508G=
c.117G= (p.Thr39=)
c.-13G= (n.-13G=)
7g.44145622C>GCA454863265GCKc.*1126G>C (n.*1126G>C)
c.*248G>C (n.*248G>C)
n.354G>C
c.162G>C (p.Thr54=)
c.1131G>C (p.Thr377=)
c.1128G>C (p.Thr376=)
c.1191G>C (p.Thr397=)
n.140G>C
c.180G>C (p.Thr60=)
c.1125G>C (p.Thr375=)
c.1077G>C (p.Thr359=)
n.508G>C
c.117G>C (p.Thr39=)
c.-13G>C (n.-13G>C)
7g.44145622C>TCA454863266GCKc.*1126G>A (n.*1126G>A)
c.*248G>A (n.*248G>A)
n.354G>A
c.162G>A (p.Thr54=)
c.1131G>A (p.Thr377=)
c.1128G>A (p.Thr376=)
c.1191G>A (p.Thr397=)
n.140G>A
c.180G>A (p.Thr60=)
c.1125G>A (p.Thr375=)
c.1077G>A (p.Thr359=)
n.508G>A
c.117G>A (p.Thr39=)
c.-13G>A (n.-13G>A)
gnomAD v4
7g.44145624_44145631delCA2695203037GCKc.*1119_*1126del (n.*1119_*1126del)
c.*241_*248del (n.*241_*248del)
n.347_354del
c.155_162del (p.Val52AlafsTer?)
c.1124_1131del (p.Val375AlafsTer?)
c.1121_1128del (p.Val374AlafsTer?)
c.1184_1191del (p.Val395AlafsTer?)
n.133_140del
c.173_180del (p.Val58AlafsTer?)
c.1118_1125del (p.Val373AlafsTer?)
c.1070_1077del (p.Val357AlafsTer?)
n.501_508del
c.110_117del (p.Val37AlafsTer?)
c.-20_-13del (n.-20_-13del)
7g.44145622_44145623insTCA2695203038GCKc.*1125_*1126insA (n.*1125_*1126insA)
c.*247_*248insA (n.*247_*248insA)
n.353_354insA
c.161_162insA (p.Arg55AlafsTer?)
c.1130_1131insA (p.Arg378AlafsTer?)
c.1127_1128insA (p.Arg377AlafsTer?)
c.1190_1191insA (p.Arg398AlafsTer?)
n.139_140insA
c.179_180insA (p.Arg61AlafsTer?)
c.1124_1125insA (p.Arg376AlafsTer?)
c.1076_1077insA (p.Arg360AlafsTer?)
n.507_508insA
c.116_117insA (p.Arg40AlafsTer?)
c.-14_-13insA (n.-14_-13insA)
7g.44145623G>ACA367398829GCKc.*1125C>T (n.*1125C>T)
c.*247C>T (n.*247C>T)
n.353C>T
c.161C>T (p.Thr54Met)
c.1130C>T (p.Thr377Met)
c.1127C>T (p.Thr376Met)
c.1190C>T (p.Thr397Met)
n.139C>T
c.179C>T (p.Thr60Met)
c.1124C>T (p.Thr375Met)
c.1076C>T (p.Thr359Met)
n.507C>T
c.116C>T (p.Thr39Met)
c.-14C>T (n.-14C>T)
gnomAD v4
7g.44145623G>CCA367398831GCKc.*1125C>G (n.*1125C>G)
c.*247C>G (n.*247C>G)
n.353C>G
c.161C>G (p.Thr54Arg)
c.1130C>G (p.Thr377Arg)
c.1127C>G (p.Thr376Arg)
c.1190C>G (p.Thr397Arg)
n.139C>G
c.179C>G (p.Thr60Arg)
c.1124C>G (p.Thr375Arg)
c.1076C>G (p.Thr359Arg)
n.507C>G
c.116C>G (p.Thr39Arg)
c.-14C>G (n.-14C>G)
7g.44145623G>TCA367398834GCKc.*1125C>A (n.*1125C>A)
c.*247C>A (n.*247C>A)
n.353C>A
c.161C>A (p.Thr54Lys)
c.1130C>A (p.Thr377Lys)
c.1127C>A (p.Thr376Lys)
c.1190C>A (p.Thr397Lys)
n.139C>A
c.179C>A (p.Thr60Lys)
c.1124C>A (p.Thr375Lys)
c.1076C>A (p.Thr359Lys)
n.507C>A
c.116C>A (p.Thr39Lys)
c.-14C>A (n.-14C>A)
gnomAD v4
7g.44145624_44145626delCA913187442GCKc.*1123_*1125del (n.*1123_*1125del)
c.*245_*247del (n.*245_*247del)
n.351_353del
c.159_161del (p.Thr54del)
c.1128_1130del (p.Thr377del)
c.1125_1127del (p.Thr376del)
c.1188_1190del (p.Thr397del)
n.137_139del
c.177_179del (p.Thr60del)
c.1122_1124del (p.Thr375del)
c.1074_1076del (p.Thr359del)
n.505_507del
c.114_116del (p.Thr39del)
c.-16_-14del (n.-16_-14del)
7g.44145624T>ACA367398836GCKc.*1124A>T (n.*1124A>T)
c.*246A>T (n.*246A>T)
n.352A>T
c.160A>T (p.Thr54Ser)
c.1129A>T (p.Thr377Ser)
c.1126A>T (p.Thr376Ser)
c.1189A>T (p.Thr397Ser)
n.138A>T
c.178A>T (p.Thr60Ser)
c.1123A>T (p.Thr375Ser)
c.1075A>T (p.Thr359Ser)
n.506A>T
c.115A>T (p.Thr39Ser)
c.-15A>T (n.-15A>T)
7g.44145624T>CCA367398838GCKc.*1124A>G (n.*1124A>G)
c.*246A>G (n.*246A>G)
n.352A>G
c.160A>G (p.Thr54Ala)
c.1129A>G (p.Thr377Ala)
c.1126A>G (p.Thr376Ala)
c.1189A>G (p.Thr397Ala)
n.138A>G
c.178A>G (p.Thr60Ala)
c.1123A>G (p.Thr375Ala)
c.1075A>G (p.Thr359Ala)
n.506A>G
c.115A>G (p.Thr39Ala)
c.-15A>G (n.-15A>G)
7g.44145624T>GCA367398841GCKc.*1124A>C (n.*1124A>C)
c.*246A>C (n.*246A>C)
n.352A>C
c.160A>C (p.Thr54Pro)
c.1129A>C (p.Thr377Pro)
c.1126A>C (p.Thr376Pro)
c.1189A>C (p.Thr397Pro)
n.138A>C
c.178A>C (p.Thr60Pro)
c.1123A>C (p.Thr375Pro)
c.1075A>C (p.Thr359Pro)
n.506A>C
c.115A>C (p.Thr39Pro)
c.-15A>C (n.-15A>C)
7g.44145625A>CCA454863267GCKc.*1123T>G (n.*1123T>G)
c.*245T>G (n.*245T>G)
n.351T>G
c.159T>G (p.Ser53=)
c.1128T>G (p.Ser376=)
c.1125T>G (p.Ser375=)
c.1188T>G (p.Ser396=)
n.137T>G
c.177T>G (p.Ser59=)
c.1122T>G (p.Ser374=)
c.1074T>G (p.Ser358=)
n.505T>G
c.114T>G (p.Ser38=)
c.-16T>G (n.-16T>G)
7g.44145625A>GCA454863268GCKc.*1123T>C (n.*1123T>C)
c.*245T>C (n.*245T>C)
n.351T>C
c.159T>C (p.Ser53=)
c.1128T>C (p.Ser376=)
c.1125T>C (p.Ser375=)
c.1188T>C (p.Ser396=)
n.137T>C
c.177T>C (p.Ser59=)
c.1122T>C (p.Ser374=)
c.1074T>C (p.Ser358=)
n.505T>C
c.114T>C (p.Ser38=)
c.-16T>C (n.-16T>C)
7g.44145625A>TCA454863269GCKc.*1123T>A (n.*1123T>A)
c.*245T>A (n.*245T>A)
n.351T>A
c.159T>A (p.Ser53=)
c.1128T>A (p.Ser376=)
c.1125T>A (p.Ser375=)
c.1188T>A (p.Ser396=)
n.137T>A
c.177T>A (p.Ser59=)
c.1122T>A (p.Ser374=)
c.1074T>A (p.Ser358=)
n.505T>A
c.114T>A (p.Ser38=)
c.-16T>A (n.-16T>A)
7g.44145626G>ACA213713GCKc.*1122C>T (n.*1122C>T)
c.*244C>T (n.*244C>T)
n.350C>T
c.158C>T (p.Ser53Phe)
c.1127C>T (p.Ser376Phe)
c.1124C>T (p.Ser375Phe)
c.1187C>T (p.Ser396Phe)
n.136C>T
c.176C>T (p.Ser59Phe)
c.1121C>T (p.Ser374Phe)
c.1073C>T (p.Ser358Phe)
n.504C>T
c.113C>T (p.Ser38Phe)
c.-17C>T (n.-17C>T)
ClinVar dbSNP
7g.44145626G>CCA367398844GCKc.*1122C>G (n.*1122C>G)
c.*244C>G (n.*244C>G)
n.350C>G
c.158C>G (p.Ser53Cys)
c.1127C>G (p.Ser376Cys)
c.1124C>G (p.Ser375Cys)
c.1187C>G (p.Ser396Cys)
n.136C>G
c.176C>G (p.Ser59Cys)
c.1121C>G (p.Ser374Cys)
c.1073C>G (p.Ser358Cys)
n.504C>G
c.113C>G (p.Ser38Cys)
c.-17C>G (n.-17C>G)
7g.44145626G=CA1703612927GCKc.*1122C= (n.*1122C=)
c.*244C= (n.*244C=)
n.350C=
c.158C= (p.Ser53=)
c.1127C= (p.Ser376=)
c.1124C= (p.Ser375=)
c.1187C= (p.Ser396=)
n.136C=
c.176C= (p.Ser59=)
c.1121C= (p.Ser374=)
c.1073C= (p.Ser358=)
n.504C=
c.113C= (p.Ser38=)
c.-17C= (n.-17C=)
7g.44145626G>TCA367398843GCKc.*1122C>A (n.*1122C>A)
c.*244C>A (n.*244C>A)
n.350C>A
c.158C>A (p.Ser53Tyr)
c.1127C>A (p.Ser376Tyr)
c.1124C>A (p.Ser375Tyr)
c.1187C>A (p.Ser396Tyr)
n.136C>A
c.176C>A (p.Ser59Tyr)
c.1121C>A (p.Ser374Tyr)
c.1073C>A (p.Ser358Tyr)
n.504C>A
c.113C>A (p.Ser38Tyr)
c.-17C>A (n.-17C>A)
ClinVar gnomAD v4
7g.44145627A=CA1703612928GCKc.*1121T= (n.*1121T=)
c.*243T= (n.*243T=)
n.349T=
c.157T= (p.Ser53=)
c.1126T= (p.Ser376=)
c.1123T= (p.Ser375=)
c.1186T= (p.Ser396=)
n.135T=
c.175T= (p.Ser59=)
c.1120T= (p.Ser374=)
c.1072T= (p.Ser358=)
n.503T=
c.112T= (p.Ser38=)
c.-18T= (n.-18T=)
7g.44145627A>CCA367398849GCKc.*1121T>G (n.*1121T>G)
c.*243T>G (n.*243T>G)
n.349T>G
c.157T>G (p.Ser53Ala)
c.1126T>G (p.Ser376Ala)
c.1123T>G (p.Ser375Ala)
c.1186T>G (p.Ser396Ala)
n.135T>G
c.175T>G (p.Ser59Ala)
c.1120T>G (p.Ser374Ala)
c.1072T>G (p.Ser358Ala)
n.503T>G
c.112T>G (p.Ser38Ala)
c.-18T>G (n.-18T>G)
7g.44145627A>GCA367398853GCKc.*1121T>C (n.*1121T>C)
c.*243T>C (n.*243T>C)
n.349T>C
c.157T>C (p.Ser53Pro)
c.1126T>C (p.Ser376Pro)
c.1123T>C (p.Ser375Pro)
c.1186T>C (p.Ser396Pro)
n.135T>C
c.175T>C (p.Ser59Pro)
c.1120T>C (p.Ser374Pro)
c.1072T>C (p.Ser358Pro)
n.503T>C
c.112T>C (p.Ser38Pro)
c.-18T>C (n.-18T>C)
ClinVar dbSNP
7g.44145627A>TCA367398856GCKc.*1121T>A (n.*1121T>A)
c.*243T>A (n.*243T>A)
n.349T>A
c.157T>A (p.Ser53Thr)
c.1126T>A (p.Ser376Thr)
c.1123T>A (p.Ser375Thr)
c.1186T>A (p.Ser396Thr)
n.135T>A
c.175T>A (p.Ser59Thr)
c.1120T>A (p.Ser374Thr)
c.1072T>A (p.Ser358Thr)
n.503T>A
c.112T>A (p.Ser38Thr)
c.-18T>A (n.-18T>A)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.44145628C>ACA454863277GCKc.*1120G>T (n.*1120G>T)
c.*242G>T (n.*242G>T)
n.348G>T
c.156G>T (p.Val52=)
c.1125G>T (p.Val375=)
c.1122G>T (p.Val374=)
c.1185G>T (p.Val395=)
n.134G>T
c.174G>T (p.Val58=)
c.1119G>T (p.Val373=)
c.1071G>T (p.Val357=)
n.502G>T
c.111G>T (p.Val37=)
c.-19G>T (n.-19G>T)
gnomAD v4
7g.44145628C>GCA454863278GCKc.*1120G>C (n.*1120G>C)
c.*242G>C (n.*242G>C)
n.348G>C
c.156G>C (p.Val52=)
c.1125G>C (p.Val375=)
c.1122G>C (p.Val374=)
c.1185G>C (p.Val395=)
n.134G>C
c.174G>C (p.Val58=)
c.1119G>C (p.Val373=)
c.1071G>C (p.Val357=)
n.502G>C
c.111G>C (p.Val37=)
c.-19G>C (n.-19G>C)
7g.44145628C>TCA454863276GCKc.*1120G>A (n.*1120G>A)
c.*242G>A (n.*242G>A)
n.348G>A
c.156G>A (p.Val52=)
c.1125G>A (p.Val375=)
c.1122G>A (p.Val374=)
c.1185G>A (p.Val395=)
n.134G>A
c.174G>A (p.Val58=)
c.1119G>A (p.Val373=)
c.1071G>A (p.Val357=)
n.502G>A
c.111G>A (p.Val37=)
c.-19G>A (n.-19G>A)
7g.44145629A>CCA367398863GCKc.*1119T>G (n.*1119T>G)
c.*241T>G (n.*241T>G)
n.347T>G
c.155T>G (p.Val52Gly)
c.1124T>G (p.Val375Gly)
c.1121T>G (p.Val374Gly)
c.1184T>G (p.Val395Gly)
n.133T>G
c.173T>G (p.Val58Gly)
c.1118T>G (p.Val373Gly)
c.1070T>G (p.Val357Gly)
n.501T>G
c.110T>G (p.Val37Gly)
c.-20T>G (n.-20T>G)
7g.44145629A>GCA367398867GCKc.*1119T>C (n.*1119T>C)
c.*241T>C (n.*241T>C)
n.347T>C
c.155T>C (p.Val52Ala)
c.1124T>C (p.Val375Ala)
c.1121T>C (p.Val374Ala)
c.1184T>C (p.Val395Ala)
n.133T>C
c.173T>C (p.Val58Ala)
c.1118T>C (p.Val373Ala)
c.1070T>C (p.Val357Ala)
n.501T>C
c.110T>C (p.Val37Ala)
c.-20T>C (n.-20T>C)
7g.44145629A>TCA367398869GCKc.*1119T>A (n.*1119T>A)
c.*241T>A (n.*241T>A)
n.347T>A
c.155T>A (p.Val52Glu)
c.1124T>A (p.Val375Glu)
c.1121T>A (p.Val374Glu)
c.1184T>A (p.Val395Glu)
n.133T>A
c.173T>A (p.Val58Glu)
c.1118T>A (p.Val373Glu)
c.1070T>A (p.Val357Glu)
n.501T>A
c.110T>A (p.Val37Glu)
c.-20T>A (n.-20T>A)
ClinVar gnomAD v4
7g.44145629dupCA2695203039GCKc.*1119dup (n.*1119dup)
c.*241dup (n.*241dup)
n.347dup
c.155dup (p.Ser53ValfsTer?)
c.1124dup (p.Ser376ValfsTer?)
c.1121dup (p.Ser375ValfsTer?)
c.1184dup (p.Ser396ValfsTer?)
n.133dup
c.173dup (p.Ser59ValfsTer?)
c.1118dup (p.Ser374ValfsTer?)
c.1070dup (p.Ser358ValfsTer?)
n.501dup
c.110dup (p.Ser38ValfsTer?)
c.-20dup (n.-20dup)
7g.44145630C>ACA367398872GCKc.*1118G>T (n.*1118G>T)
c.*240G>T (n.*240G>T)
n.346G>T
c.154G>T (p.Val52Leu)
c.1123G>T (p.Val375Leu)
c.1120G>T (p.Val374Leu)
c.1183G>T (p.Val395Leu)
n.132G>T
c.172G>T (p.Val58Leu)
c.1117G>T (p.Val373Leu)
c.1069G>T (p.Val357Leu)
n.500G>T
c.109G>T (p.Val37Leu)
c.-21G>T (n.-21G>T)
ClinVar dbSNP gnomAD v2
7g.44145630C=CA1703612929GCKc.*1118G= (n.*1118G=)
c.*240G= (n.*240G=)
n.346G=
c.154G= (p.Val52=)
c.1123G= (p.Val375=)
c.1120G= (p.Val374=)
c.1183G= (p.Val395=)
n.132G=
c.172G= (p.Val58=)
c.1117G= (p.Val373=)
c.1069G= (p.Val357=)
n.500G=
c.109G= (p.Val37=)
c.-21G= (n.-21G=)
7g.44145630C>GCA367398880GCKc.*1118G>C (n.*1118G>C)
c.*240G>C (n.*240G>C)
n.346G>C
c.154G>C (p.Val52Leu)
c.1123G>C (p.Val375Leu)
c.1120G>C (p.Val374Leu)
c.1183G>C (p.Val395Leu)
n.132G>C
c.172G>C (p.Val58Leu)
c.1117G>C (p.Val373Leu)
c.1069G>C (p.Val357Leu)
n.500G>C
c.109G>C (p.Val37Leu)
c.-21G>C (n.-21G>C)
ClinVar dbSNP gnomAD v3 gnomAD v4
7g.44145630C>TCA367398877GCKc.*1118G>A (n.*1118G>A)
c.*240G>A (n.*240G>A)
n.346G>A
c.154G>A (p.Val52Met)
c.1123G>A (p.Val375Met)
c.1120G>A (p.Val374Met)
c.1183G>A (p.Val395Met)
n.132G>A
c.172G>A (p.Val58Met)
c.1117G>A (p.Val373Met)
c.1069G>A (p.Val357Met)
n.500G>A
c.109G>A (p.Val37Met)
c.-21G>A (n.-21G>A)
ClinVar dbSNP gnomAD v2 gnomAD v4
7g.44145631_44145632dupCA2695203040GCKc.*1117_*1118dup (n.*1117_*1118dup)
c.*239_*240dup (n.*239_*240dup)
n.345_346dup
c.153_154dup (p.Val52AlafsTer29)
c.1122_1123dup (p.Val375AlafsTer29)
c.1119_1120dup (p.Val374AlafsTer29)
c.1182_1183dup (p.Val395AlafsTer29)
n.131_132dup
c.171_172dup (p.Val58AlafsTer29)
c.1116_1117dup (p.Val373AlafsTer29)
c.1068_1069dup (p.Val357AlafsTer29)
n.499_500dup
c.108_109dup (p.Val37AlafsTer29)
c.-22_-21dup (n.-22_-21dup)
7g.44145631G>ACA454863282GCKc.*1117C>T (n.*1117C>T)
c.*239C>T (n.*239C>T)
n.345C>T
c.153C>T (p.Ser51=)
c.1122C>T (p.Ser374=)
c.1119C>T (p.Ser373=)
c.1182C>T (p.Ser394=)
n.131C>T
c.171C>T (p.Ser57=)
c.1116C>T (p.Ser372=)
c.1068C>T (p.Ser356=)
n.499C>T
c.108C>T (p.Ser36=)
c.-22C>T (n.-22C>T)
dbSNP gnomAD v2 gnomAD v4
7g.44145631G>CCA367398882GCKc.*1117C>G (n.*1117C>G)
c.*239C>G (n.*239C>G)
n.345C>G
c.153C>G (p.Ser51Arg)
c.1122C>G (p.Ser374Arg)
c.1119C>G (p.Ser373Arg)
c.1182C>G (p.Ser394Arg)
n.131C>G
c.171C>G (p.Ser57Arg)
c.1116C>G (p.Ser372Arg)
c.1068C>G (p.Ser356Arg)
n.499C>G
c.108C>G (p.Ser36Arg)
c.-22C>G (n.-22C>G)
dbSNP gnomAD v4
7g.44145631G=CA1703612930GCKc.*1117C= (n.*1117C=)
c.*239C= (n.*239C=)
n.345C=
c.153C= (p.Ser51=)
c.1122C= (p.Ser374=)
c.1119C= (p.Ser373=)
c.1182C= (p.Ser394=)
n.131C=
c.171C= (p.Ser57=)
c.1116C= (p.Ser372=)
c.1068C= (p.Ser356=)
n.499C=
c.108C= (p.Ser36=)
c.-22C= (n.-22C=)
7g.44145631G>TCA367398885GCKc.*1117C>A (n.*1117C>A)
c.*239C>A (n.*239C>A)
n.345C>A
c.153C>A (p.Ser51Arg)
c.1122C>A (p.Ser374Arg)
c.1119C>A (p.Ser373Arg)
c.1182C>A (p.Ser394Arg)
n.131C>A
c.171C>A (p.Ser57Arg)
c.1116C>A (p.Ser372Arg)
c.1068C>A (p.Ser356Arg)
n.499C>A
c.108C>A (p.Ser36Arg)
c.-22C>A (n.-22C>A)
dbSNP gnomAD v4
7g.44145632C>ACA367398887GCKc.*1116G>T (n.*1116G>T)
c.*238G>T (n.*238G>T)
n.344G>T
c.152G>T (p.Ser51Ile)
c.1121G>T (p.Ser374Ile)
c.1118G>T (p.Ser373Ile)
c.1181G>T (p.Ser394Ile)
n.130G>T
c.170G>T (p.Ser57Ile)
c.1115G>T (p.Ser372Ile)
c.1067G>T (p.Ser356Ile)
n.498G>T
c.107G>T (p.Ser36Ile)
c.-23G>T (n.-23G>T)
7g.44145632C=CA1703612931GCKc.*1116G= (n.*1116G=)
c.*238G= (n.*238G=)
n.344G=
c.152G= (p.Ser51=)
c.1121G= (p.Ser374=)
c.1118G= (p.Ser373=)
c.1181G= (p.Ser394=)
n.130G=
c.170G= (p.Ser57=)
c.1115G= (p.Ser372=)
c.1067G= (p.Ser356=)
n.498G=
c.107G= (p.Ser36=)
c.-23G= (n.-23G=)
7g.44145632C>GCA4239428GCKc.*1116G>C (n.*1116G>C)
c.*238G>C (n.*238G>C)
n.344G>C
c.152G>C (p.Ser51Thr)
c.1121G>C (p.Ser374Thr)
c.1118G>C (p.Ser373Thr)
c.1181G>C (p.Ser394Thr)
n.130G>C
c.170G>C (p.Ser57Thr)
c.1115G>C (p.Ser372Thr)
c.1067G>C (p.Ser356Thr)
n.498G>C
c.107G>C (p.Ser36Thr)
c.-23G>C (n.-23G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145632C>TCA367398898GCKc.*1116G>A (n.*1116G>A)
c.*238G>A (n.*238G>A)
n.344G>A
c.152G>A (p.Ser51Asn)
c.1121G>A (p.Ser374Asn)
c.1118G>A (p.Ser373Asn)
c.1181G>A (p.Ser394Asn)
n.130G>A
c.170G>A (p.Ser57Asn)
c.1115G>A (p.Ser372Asn)
c.1067G>A (p.Ser356Asn)
n.498G>A
c.107G>A (p.Ser36Asn)
c.-23G>A (n.-23G>A)
7g.44145633T>ACA367398901GCKc.*1115A>T (n.*1115A>T)
c.*237A>T (n.*237A>T)
n.343A>T
c.151A>T (p.Ser51Cys)
c.1120A>T (p.Ser374Cys)
c.1117A>T (p.Ser373Cys)
c.1180A>T (p.Ser394Cys)
n.129A>T
c.169A>T (p.Ser57Cys)
c.1114A>T (p.Ser372Cys)
c.1066A>T (p.Ser356Cys)
n.497A>T
c.106A>T (p.Ser36Cys)
c.-24A>T (n.-24A>T)
7g.44145633T>CCA367398904GCKc.*1115A>G (n.*1115A>G)
c.*237A>G (n.*237A>G)
n.343A>G
c.151A>G (p.Ser51Gly)
c.1120A>G (p.Ser374Gly)
c.1117A>G (p.Ser373Gly)
c.1180A>G (p.Ser394Gly)
n.129A>G
c.169A>G (p.Ser57Gly)
c.1114A>G (p.Ser372Gly)
c.1066A>G (p.Ser356Gly)
n.497A>G
c.106A>G (p.Ser36Gly)
c.-24A>G (n.-24A>G)
7g.44145633T>GCA367398906GCKc.*1115A>C (n.*1115A>C)
c.*237A>C (n.*237A>C)
n.343A>C
c.151A>C (p.Ser51Arg)
c.1120A>C (p.Ser374Arg)
c.1117A>C (p.Ser373Arg)
c.1180A>C (p.Ser394Arg)
n.129A>C
c.169A>C (p.Ser57Arg)
c.1114A>C (p.Ser372Arg)
c.1066A>C (p.Ser356Arg)
n.497A>C
c.106A>C (p.Ser36Arg)
c.-24A>C (n.-24A>C)
7g.44145634_44145654delCA2695203042GCKc.*1095_*1115del (n.*1095_*1115del)
c.*217_*237del (n.*217_*237del)
n.323_343del
c.131_151del (p.Ile44_Glu50del)
c.1100_1120del (p.Ile367_Glu373del)
c.1097_1117del (p.Ile366_Glu372del)
c.1160_1180del (p.Ile387_Glu393del)
n.109_129del
c.149_169del (p.Ile50_Glu56del)
c.1094_1114del (p.Ile365_Glu371del)
c.1046_1066del (p.Ile349_Glu355del)
n.477_497del
c.86_106del (p.Ile29_Glu35del)
c.-44_-24del (n.-44_-24del)
7g.44145634C>ACA367398909GCKc.*1114G>T (n.*1114G>T)
c.*236G>T (n.*236G>T)
n.342G>T
c.150G>T (p.Glu50Asp)
c.1119G>T (p.Glu373Asp)
c.1116G>T (p.Glu372Asp)
c.1179G>T (p.Glu393Asp)
n.128G>T
c.168G>T (p.Glu56Asp)
c.1113G>T (p.Glu371Asp)
c.1065G>T (p.Glu355Asp)
n.496G>T
c.105G>T (p.Glu35Asp)
c.-25G>T (n.-25G>T)
gnomAD v4
7g.44145634C=CA1703612932GCKc.*1114G= (n.*1114G=)
c.*236G= (n.*236G=)
n.342G=
c.150G= (p.Glu50=)
c.1119G= (p.Glu373=)
c.1116G= (p.Glu372=)
c.1179G= (p.Glu393=)
n.128G=
c.168G= (p.Glu56=)
c.1113G= (p.Glu371=)
c.1065G= (p.Glu355=)
n.496G=
c.105G= (p.Glu35=)
c.-25G= (n.-25G=)
7g.44145634C>GCA367398911GCKc.*1114G>C (n.*1114G>C)
c.*236G>C (n.*236G>C)
n.342G>C
c.150G>C (p.Glu50Asp)
c.1119G>C (p.Glu373Asp)
c.1116G>C (p.Glu372Asp)
c.1179G>C (p.Glu393Asp)
n.128G>C
c.168G>C (p.Glu56Asp)
c.1113G>C (p.Glu371Asp)
c.1065G>C (p.Glu355Asp)
n.496G>C
c.105G>C (p.Glu35Asp)
c.-25G>C (n.-25G>C)
gnomAD v4
7g.44145634C>TCA4239429GCKc.*1114G>A (n.*1114G>A)
c.*236G>A (n.*236G>A)
n.342G>A
c.150G>A (p.Glu50=)
c.1119G>A (p.Glu373=)
c.1116G>A (p.Glu372=)
c.1179G>A (p.Glu393=)
n.128G>A
c.168G>A (p.Glu56=)
c.1113G>A (p.Glu371=)
c.1065G>A (p.Glu355=)
n.496G>A
c.105G>A (p.Glu35=)
c.-25G>A (n.-25G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145635T>ACA367398915GCKc.*1113A>T (n.*1113A>T)
c.*235A>T (n.*235A>T)
n.341A>T
c.149A>T (p.Glu50Val)
c.1118A>T (p.Glu373Val)
c.1115A>T (p.Glu372Val)
c.1178A>T (p.Glu393Val)
n.127A>T
c.167A>T (p.Glu56Val)
c.1112A>T (p.Glu371Val)
c.1064A>T (p.Glu355Val)
n.495A>T
c.104A>T (p.Glu35Val)
c.-26A>T (n.-26A>T)
7g.44145635T>CCA367398919GCKc.*1113A>G (n.*1113A>G)
c.*235A>G (n.*235A>G)
n.341A>G
c.149A>G (p.Glu50Gly)
c.1118A>G (p.Glu373Gly)
c.1115A>G (p.Glu372Gly)
c.1178A>G (p.Glu393Gly)
n.127A>G
c.167A>G (p.Glu56Gly)
c.1112A>G (p.Glu371Gly)
c.1064A>G (p.Glu355Gly)
n.495A>G
c.104A>G (p.Glu35Gly)
c.-26A>G (n.-26A>G)
7g.44145635T>GCA367398917GCKc.*1113A>C (n.*1113A>C)
c.*235A>C (n.*235A>C)
n.341A>C
c.149A>C (p.Glu50Ala)
c.1118A>C (p.Glu373Ala)
c.1115A>C (p.Glu372Ala)
c.1178A>C (p.Glu393Ala)
n.127A>C
c.167A>C (p.Glu56Ala)
c.1112A>C (p.Glu371Ala)
c.1064A>C (p.Glu355Ala)
n.495A>C
c.104A>C (p.Glu35Ala)
c.-26A>C (n.-26A>C)
7g.44145641_44145661delCA2695203043GCKc.*1093_*1113del (n.*1093_*1113del)
c.*215_*235del (n.*215_*235del)
n.321_341del
c.129_149del (p.Asp43_Cys49del)
c.1098_1118del (p.Asp366_Cys372del)
c.1095_1115del (p.Asp365_Cys371del)
c.1158_1178del (p.Asp386_Cys392del)
n.107_127del
c.147_167del (p.Asp49_Cys55del)
c.1092_1112del (p.Asp364_Cys370del)
c.1044_1064del (p.Asp348_Cys354del)
n.475_495del
c.84_104del (p.Asp28_Cys34del)
c.-46_-26del (n.-46_-26del)
7g.44145636C>ACA213711GCKc.*1112G>T (n.*1112G>T)
c.*234G>T (n.*234G>T)
n.340G>T
c.148G>T (p.Glu50Ter)
c.1117G>T (p.Glu373Ter)
c.1114G>T (p.Glu372Ter)
c.1177G>T (p.Glu393Ter)
n.126G>T
c.166G>T (p.Glu56Ter)
c.1111G>T (p.Glu371Ter)
c.1063G>T (p.Glu355Ter)
n.494G>T
c.103G>T (p.Glu35Ter)
c.-27G>T (n.-27G>T)
ClinVar dbSNP gnomAD v4
7g.44145636C=CA1703612933GCKc.*1112G= (n.*1112G=)
c.*234G= (n.*234G=)
n.340G=
c.148G= (p.Glu50=)
c.1117G= (p.Glu373=)
c.1114G= (p.Glu372=)
c.1177G= (p.Glu393=)
n.126G=
c.166G= (p.Glu56=)
c.1111G= (p.Glu371=)
c.1063G= (p.Glu355=)
n.494G=
c.103G= (p.Glu35=)
c.-27G= (n.-27G=)
7g.44145636C>GCA367398924GCKc.*1112G>C (n.*1112G>C)
c.*234G>C (n.*234G>C)
n.340G>C
c.148G>C (p.Glu50Gln)
c.1117G>C (p.Glu373Gln)
c.1114G>C (p.Glu372Gln)
c.1177G>C (p.Glu393Gln)
n.126G>C
c.166G>C (p.Glu56Gln)
c.1111G>C (p.Glu371Gln)
c.1063G>C (p.Glu355Gln)
n.494G>C
c.103G>C (p.Glu35Gln)
c.-27G>C (n.-27G>C)
dbSNP gnomAD v2 gnomAD v4
7g.44145636C>TCA367398922GCKc.*1112G>A (n.*1112G>A)
c.*234G>A (n.*234G>A)
n.340G>A
c.148G>A (p.Glu50Lys)
c.1117G>A (p.Glu373Lys)
c.1114G>A (p.Glu372Lys)
c.1177G>A (p.Glu393Lys)
n.126G>A
c.166G>A (p.Glu56Lys)
c.1111G>A (p.Glu371Lys)
c.1063G>A (p.Glu355Lys)
n.494G>A
c.103G>A (p.Glu35Lys)
c.-27G>A (n.-27G>A)
7g.44145637_44145638delCA2695203044GCKc.*1111_*1112del (n.*1111_*1112del)
c.*233_*234del (n.*233_*234del)
n.339_340del
c.147_148del (p.Cys49Ter)
c.1116_1117del (p.Cys372Ter)
c.1113_1114del (p.Cys371Ter)
c.1176_1177del (p.Cys392Ter)
n.125_126del
c.165_166del (p.Cys55Ter)
c.1110_1111del (p.Cys370Ter)
c.1062_1063del (p.Cys354Ter)
n.493_494del
c.102_103del (p.Cys34Ter)
c.-28_-27del (n.-28_-27del)
7g.44145639_44145644dupCA645372115GCKc.*1107_*1112dup (n.*1107_*1112dup)
c.*229_*234dup (n.*229_*234dup)
n.335_340dup
c.143_148dup (p.Cys49_Glu50insAlaCys)
c.1112_1117dup (p.Cys372_Glu373insAlaCys)
c.1109_1114dup (p.Cys371_Glu372insAlaCys)
c.1172_1177dup (p.Cys392_Glu393insAlaCys)
n.121_126dup
c.161_166dup (p.Cys55_Glu56insAlaCys)
c.1106_1111dup (p.Cys370_Glu371insAlaCys)
c.1058_1063dup (p.Cys354_Glu355insAlaCys)
n.489_494dup
c.98_103dup (p.Cys34_Glu35insAlaCys)
c.-32_-27dup (n.-32_-27dup)
7g.44145637G>ACA4239430GCKc.*1111C>T (n.*1111C>T)
c.*233C>T (n.*233C>T)
n.339C>T
c.147C>T (p.Cys49=)
c.1116C>T (p.Cys372=)
c.1113C>T (p.Cys371=)
c.1176C>T (p.Cys392=)
n.125C>T
c.165C>T (p.Cys55=)
c.1110C>T (p.Cys370=)
c.1062C>T (p.Cys354=)
n.493C>T
c.102C>T (p.Cys34=)
c.-28C>T (n.-28C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145637G>CCA367398928GCKc.*1111C>G (n.*1111C>G)
c.*233C>G (n.*233C>G)
n.339C>G
c.147C>G (p.Cys49Trp)
c.1116C>G (p.Cys372Trp)
c.1113C>G (p.Cys371Trp)
c.1176C>G (p.Cys392Trp)
n.125C>G
c.165C>G (p.Cys55Trp)
c.1110C>G (p.Cys370Trp)
c.1062C>G (p.Cys354Trp)
n.493C>G
c.102C>G (p.Cys34Trp)
c.-28C>G (n.-28C>G)
ClinVar dbSNP
7g.44145637G=CA1703612934GCKc.*1111C= (n.*1111C=)
c.*233C= (n.*233C=)
n.339C=
c.147C= (p.Cys49=)
c.1116C= (p.Cys372=)
c.1113C= (p.Cys371=)
c.1176C= (p.Cys392=)
n.125C=
c.165C= (p.Cys55=)
c.1110C= (p.Cys370=)
c.1062C= (p.Cys354=)
n.493C=
c.102C= (p.Cys34=)
c.-28C= (n.-28C=)
7g.44145637G>TCA367398930GCKc.*1111C>A (n.*1111C>A)
c.*233C>A (n.*233C>A)
n.339C>A
c.147C>A (p.Cys49Ter)
c.1116C>A (p.Cys372Ter)
c.1113C>A (p.Cys371Ter)
c.1176C>A (p.Cys392Ter)
n.125C>A
c.165C>A (p.Cys55Ter)
c.1110C>A (p.Cys370Ter)
c.1062C>A (p.Cys354Ter)
n.493C>A
c.102C>A (p.Cys34Ter)
c.-28C>A (n.-28C>A)
ClinVar dbSNP
7g.44145638delCA2695203045GCKc.*1110del (n.*1110del)
c.*232del (n.*232del)
n.338del
c.146del (p.Cys49SerfsTer?)
c.1115del (p.Cys372SerfsTer?)
c.1112del (p.Cys371SerfsTer?)
c.1175del (p.Cys392SerfsTer?)
n.124del
c.164del (p.Cys55SerfsTer?)
c.1109del (p.Cys370SerfsTer?)
c.1061del (p.Cys354SerfsTer?)
n.492del
c.101del (p.Cys34SerfsTer?)
c.-29del (n.-29del)
7g.44145638C>ACA152950GCKc.*1110G>T (n.*1110G>T)
c.*232G>T (n.*232G>T)
n.338G>T
c.146G>T (p.Cys49Phe)
c.1115G>T (p.Cys372Phe)
c.1112G>T (p.Cys371Phe)
c.1175G>T (p.Cys392Phe)
n.124G>T
c.164G>T (p.Cys55Phe)
c.1109G>T (p.Cys370Phe)
c.1061G>T (p.Cys354Phe)
n.492G>T
c.101G>T (p.Cys34Phe)
c.-29G>T (n.-29G>T)
ClinVar dbSNP
7g.44145638C=CA1703612935GCKc.*1110G= (n.*1110G=)
c.*232G= (n.*232G=)
n.338G=
c.146G= (p.Cys49=)
c.1115G= (p.Cys372=)
c.1112G= (p.Cys371=)
c.1175G= (p.Cys392=)
n.124G=
c.164G= (p.Cys55=)
c.1109G= (p.Cys370=)
c.1061G= (p.Cys354=)
n.492G=
c.101G= (p.Cys34=)
c.-29G= (n.-29G=)
7g.44145638C>GCA367398933GCKc.*1110G>C (n.*1110G>C)
c.*232G>C (n.*232G>C)
n.338G>C
c.146G>C (p.Cys49Ser)
c.1115G>C (p.Cys372Ser)
c.1112G>C (p.Cys371Ser)
c.1175G>C (p.Cys392Ser)
n.124G>C
c.164G>C (p.Cys55Ser)
c.1109G>C (p.Cys370Ser)
c.1061G>C (p.Cys354Ser)
n.492G>C
c.101G>C (p.Cys34Ser)
c.-29G>C (n.-29G>C)
7g.44145638C>TCA367398935GCKc.*1110G>A (n.*1110G>A)
c.*232G>A (n.*232G>A)
n.338G>A
c.146G>A (p.Cys49Tyr)
c.1115G>A (p.Cys372Tyr)
c.1112G>A (p.Cys371Tyr)
c.1175G>A (p.Cys392Tyr)
n.124G>A
c.164G>A (p.Cys55Tyr)
c.1109G>A (p.Cys370Tyr)
c.1061G>A (p.Cys354Tyr)
n.492G>A
c.101G>A (p.Cys34Tyr)
c.-29G>A (n.-29G>A)
ClinVar dbSNP gnomAD v2
7g.44145639A>CCA367398944GCKc.*1109T>G (n.*1109T>G)
c.*231T>G (n.*231T>G)
n.337T>G
c.145T>G (p.Cys49Gly)
c.1114T>G (p.Cys372Gly)
c.1111T>G (p.Cys371Gly)
c.1174T>G (p.Cys392Gly)
n.123T>G
c.163T>G (p.Cys55Gly)
c.1108T>G (p.Cys370Gly)
c.1060T>G (p.Cys354Gly)
n.491T>G
c.100T>G (p.Cys34Gly)
c.-30T>G (n.-30T>G)
ClinVar
7g.44145639A>GCA367398947GCKc.*1109T>C (n.*1109T>C)
c.*231T>C (n.*231T>C)
n.337T>C
c.145T>C (p.Cys49Arg)
c.1114T>C (p.Cys372Arg)
c.1111T>C (p.Cys371Arg)
c.1174T>C (p.Cys392Arg)
n.123T>C
c.163T>C (p.Cys55Arg)
c.1108T>C (p.Cys370Arg)
c.1060T>C (p.Cys354Arg)
n.491T>C
c.100T>C (p.Cys34Arg)
c.-30T>C (n.-30T>C)
ClinVar gnomAD v4
7g.44145639A>TCA367398950GCKc.*1109T>A (n.*1109T>A)
c.*231T>A (n.*231T>A)
n.337T>A
c.145T>A (p.Cys49Ser)
c.1114T>A (p.Cys372Ser)
c.1111T>A (p.Cys371Ser)
c.1174T>A (p.Cys392Ser)
n.123T>A
c.163T>A (p.Cys55Ser)
c.1108T>A (p.Cys370Ser)
c.1060T>A (p.Cys354Ser)
n.491T>A
c.100T>A (p.Cys34Ser)
c.-30T>A (n.-30T>A)
7g.44145639_44145643dupCA2695203046GCKc.*1105_*1109dup (n.*1105_*1109dup)
c.*227_*231dup (n.*227_*231dup)
n.333_337dup
c.141_145dup (p.Cys49SerfsTer?)
c.1110_1114dup (p.Cys372SerfsTer?)
c.1107_1111dup (p.Cys371SerfsTer?)
c.1170_1174dup (p.Cys392SerfsTer?)
n.119_123dup
c.159_163dup (p.Cys55SerfsTer?)
c.1104_1108dup (p.Cys370SerfsTer?)
c.1056_1060dup (p.Cys354SerfsTer?)
n.487_491dup
c.96_100dup (p.Cys34SerfsTer?)
c.-34_-30dup (n.-34_-30dup)
7g.44145640G>ACA454863298GCKc.*1108C>T (n.*1108C>T)
c.*230C>T (n.*230C>T)
n.336C>T
c.144C>T (p.Ala48=)
c.1113C>T (p.Ala371=)
c.1110C>T (p.Ala370=)
c.1173C>T (p.Ala391=)
n.122C>T
c.162C>T (p.Ala54=)
c.1107C>T (p.Ala369=)
c.1059C>T (p.Ala353=)
n.490C>T
c.99C>T (p.Ala33=)
c.-31C>T (n.-31C>T)
7g.44145640G>CCA454863300GCKc.*1108C>G (n.*1108C>G)
c.*230C>G (n.*230C>G)
n.336C>G
c.144C>G (p.Ala48=)
c.1113C>G (p.Ala371=)
c.1110C>G (p.Ala370=)
c.1173C>G (p.Ala391=)
n.122C>G
c.162C>G (p.Ala54=)
c.1107C>G (p.Ala369=)
c.1059C>G (p.Ala353=)
n.490C>G
c.99C>G (p.Ala33=)
c.-31C>G (n.-31C>G)
7g.44145640G>TCA454863301GCKc.*1108C>A (n.*1108C>A)
c.*230C>A (n.*230C>A)
n.336C>A
c.144C>A (p.Ala48=)
c.1113C>A (p.Ala371=)
c.1110C>A (p.Ala370=)
c.1173C>A (p.Ala391=)
n.122C>A
c.162C>A (p.Ala54=)
c.1107C>A (p.Ala369=)
c.1059C>A (p.Ala353=)
n.490C>A
c.99C>A (p.Ala33=)
c.-31C>A (n.-31C>A)
gnomAD v4
7g.44145641G>ACA367398952GCKc.*1107C>T (n.*1107C>T)
c.*229C>T (n.*229C>T)
n.335C>T
c.143C>T (p.Ala48Val)
c.1112C>T (p.Ala371Val)
c.1109C>T (p.Ala370Val)
c.1172C>T (p.Ala391Val)
n.121C>T
c.161C>T (p.Ala54Val)
c.1106C>T (p.Ala369Val)
c.1058C>T (p.Ala353Val)
n.489C>T
c.98C>T (p.Ala33Val)
c.-32C>T (n.-32C>T)
gnomAD v4
7g.44145641G>CCA367398955GCKc.*1107C>G (n.*1107C>G)
c.*229C>G (n.*229C>G)
n.335C>G
c.143C>G (p.Ala48Gly)
c.1112C>G (p.Ala371Gly)
c.1109C>G (p.Ala370Gly)
c.1172C>G (p.Ala391Gly)
n.121C>G
c.161C>G (p.Ala54Gly)
c.1106C>G (p.Ala369Gly)
c.1058C>G (p.Ala353Gly)
n.489C>G
c.98C>G (p.Ala33Gly)
c.-32C>G (n.-32C>G)
7g.44145641G>TCA367398957GCKc.*1107C>A (n.*1107C>A)
c.*229C>A (n.*229C>A)
n.335C>A
c.143C>A (p.Ala48Asp)
c.1112C>A (p.Ala371Asp)
c.1109C>A (p.Ala370Asp)
c.1172C>A (p.Ala391Asp)
n.121C>A
c.161C>A (p.Ala54Asp)
c.1106C>A (p.Ala369Asp)
c.1058C>A (p.Ala353Asp)
n.489C>A
c.98C>A (p.Ala33Asp)
c.-32C>A (n.-32C>A)
gnomAD v4
7g.44145642C>ACA4239431GCKc.*1106G>T (n.*1106G>T)
c.*228G>T (n.*228G>T)
n.334G>T
c.142G>T (p.Ala48Ser)
c.1111G>T (p.Ala371Ser)
c.1108G>T (p.Ala370Ser)
c.1171G>T (p.Ala391Ser)
n.120G>T
c.160G>T (p.Ala54Ser)
c.1105G>T (p.Ala369Ser)
c.1057G>T (p.Ala353Ser)
n.488G>T
c.97G>T (p.Ala33Ser)
c.-33G>T (n.-33G>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145642C=CA1703612936GCKc.*1106G= (n.*1106G=)
c.*228G= (n.*228G=)
n.334G=
c.142G= (p.Ala48=)
c.1111G= (p.Ala371=)
c.1108G= (p.Ala370=)
c.1171G= (p.Ala391=)
n.120G=
c.160G= (p.Ala54=)
c.1105G= (p.Ala369=)
c.1057G= (p.Ala353=)
n.488G=
c.97G= (p.Ala33=)
c.-33G= (n.-33G=)
7g.44145642C>GCA367398963GCKc.*1106G>C (n.*1106G>C)
c.*228G>C (n.*228G>C)
n.334G>C
c.142G>C (p.Ala48Pro)
c.1111G>C (p.Ala371Pro)
c.1108G>C (p.Ala370Pro)
c.1171G>C (p.Ala391Pro)
n.120G>C
c.160G>C (p.Ala54Pro)
c.1105G>C (p.Ala369Pro)
c.1057G>C (p.Ala353Pro)
n.488G>C
c.97G>C (p.Ala33Pro)
c.-33G>C (n.-33G>C)
ClinVar
7g.44145642C>TCA367398961GCKc.*1106G>A (n.*1106G>A)
c.*228G>A (n.*228G>A)
n.334G>A
c.142G>A (p.Ala48Thr)
c.1111G>A (p.Ala371Thr)
c.1108G>A (p.Ala370Thr)
c.1171G>A (p.Ala391Thr)
n.120G>A
c.160G>A (p.Ala54Thr)
c.1105G>A (p.Ala369Thr)
c.1057G>A (p.Ala353Thr)
n.488G>A
c.97G>A (p.Ala33Thr)
c.-33G>A (n.-33G>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145643G>ACA454863304GCKc.*1105C>T (n.*1105C>T)
c.*227C>T (n.*227C>T)
n.333C>T
c.141C>T (p.Arg47=)
c.1110C>T (p.Arg370=)
c.1107C>T (p.Arg369=)
c.1170C>T (p.Arg390=)
n.119C>T
c.159C>T (p.Arg53=)
c.1104C>T (p.Arg368=)
c.1056C>T (p.Arg352=)
n.487C>T
c.96C>T (p.Arg32=)
c.-34C>T (n.-34C>T)
gnomAD v4
7g.44145643G>CCA454863305GCKc.*1105C>G (n.*1105C>G)
c.*227C>G (n.*227C>G)
n.333C>G
c.141C>G (p.Arg47=)
c.1110C>G (p.Arg370=)
c.1107C>G (p.Arg369=)
c.1170C>G (p.Arg390=)
n.119C>G
c.159C>G (p.Arg53=)
c.1104C>G (p.Arg368=)
c.1056C>G (p.Arg352=)
n.487C>G
c.96C>G (p.Arg32=)
c.-34C>G (n.-34C>G)
dbSNP gnomAD v2 gnomAD v4
7g.44145643G=CA1703612937GCKc.*1105C= (n.*1105C=)
c.*227C= (n.*227C=)
n.333C=
c.141C= (p.Arg47=)
c.1110C= (p.Arg370=)
c.1107C= (p.Arg369=)
c.1170C= (p.Arg390=)
n.119C=
c.159C= (p.Arg53=)
c.1104C= (p.Arg368=)
c.1056C= (p.Arg352=)
n.487C=
c.96C= (p.Arg32=)
c.-34C= (n.-34C=)
7g.44145643G>TCA454863307GCKc.*1105C>A (n.*1105C>A)
c.*227C>A (n.*227C>A)
n.333C>A
c.141C>A (p.Arg47=)
c.1110C>A (p.Arg370=)
c.1107C>A (p.Arg369=)
c.1170C>A (p.Arg390=)
n.119C>A
c.159C>A (p.Arg53=)
c.1104C>A (p.Arg368=)
c.1056C>A (p.Arg352=)
n.487C>A
c.96C>A (p.Arg32=)
c.-34C>A (n.-34C>A)
gnomAD v4
7g.44145644C>ACA367398966GCKc.*1104G>T (n.*1104G>T)
c.*226G>T (n.*226G>T)
n.332G>T
c.140G>T (p.Arg47Leu)
c.1109G>T (p.Arg370Leu)
c.1106G>T (p.Arg369Leu)
c.1169G>T (p.Arg390Leu)
n.118G>T
c.158G>T (p.Arg53Leu)
c.1103G>T (p.Arg368Leu)
c.1055G>T (p.Arg352Leu)
n.486G>T
n.404G>T
c.95G>T (p.Arg32Leu)
c.-35G>T (n.-35G>T)
gnomAD v4
7g.44145644C=CA1703612938GCKc.*1104G= (n.*1104G=)
c.*226G= (n.*226G=)
n.332G=
c.140G= (p.Arg47=)
c.1109G= (p.Arg370=)
c.1106G= (p.Arg369=)
c.1169G= (p.Arg390=)
n.118G=
c.158G= (p.Arg53=)
c.1103G= (p.Arg368=)
c.1055G= (p.Arg352=)
n.486G=
n.404G=
c.95G= (p.Arg32=)
c.-35G= (n.-35G=)
7g.44145644C>GCA367398967GCKc.*1104G>C (n.*1104G>C)
c.*226G>C (n.*226G>C)
n.332G>C
c.140G>C (p.Arg47Pro)
c.1109G>C (p.Arg370Pro)
c.1106G>C (p.Arg369Pro)
c.1169G>C (p.Arg390Pro)
n.118G>C
c.158G>C (p.Arg53Pro)
c.1103G>C (p.Arg368Pro)
c.1055G>C (p.Arg352Pro)
n.486G>C
n.404G>C
c.95G>C (p.Arg32Pro)
c.-35G>C (n.-35G>C)
ClinVar
7g.44145644C>TCA367398969GCKc.*1104G>A (n.*1104G>A)
c.*226G>A (n.*226G>A)
n.332G>A
c.140G>A (p.Arg47His)
c.1109G>A (p.Arg370His)
c.1106G>A (p.Arg369His)
c.1169G>A (p.Arg390His)
n.118G>A
c.158G>A (p.Arg53His)
c.1103G>A (p.Arg368His)
c.1055G>A (p.Arg352His)
n.486G>A
n.404G>A
c.95G>A (p.Arg32His)
c.-35G>A (n.-35G>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145645G>ACA4239433GCKc.*1103C>T (n.*1103C>T)
c.*225C>T (n.*225C>T)
n.331C>T
c.139C>T (p.Arg47Cys)
c.1108C>T (p.Arg370Cys)
c.1105C>T (p.Arg369Cys)
c.1168C>T (p.Arg390Cys)
n.117C>T
c.157C>T (p.Arg53Cys)
c.1102C>T (p.Arg368Cys)
c.1054C>T (p.Arg352Cys)
n.485C>T
n.403C>T
c.94C>T (p.Arg32Cys)
c.-36C>T (n.-36C>T)
dbSNP ExAC gnomAD v2 COSMIC COSMIC COSMIC
7g.44145645G>CCA4239432GCKc.*1103C>G (n.*1103C>G)
c.*225C>G (n.*225C>G)
n.331C>G
c.139C>G (p.Arg47Gly)
c.1108C>G (p.Arg370Gly)
c.1105C>G (p.Arg369Gly)
c.1168C>G (p.Arg390Gly)
n.117C>G
c.157C>G (p.Arg53Gly)
c.1102C>G (p.Arg368Gly)
c.1054C>G (p.Arg352Gly)
n.485C>G
n.403C>G
c.94C>G (p.Arg32Gly)
c.-36C>G (n.-36C>G)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145645G=CA1703612939GCKc.*1103C= (n.*1103C=)
c.*225C= (n.*225C=)
n.331C=
c.139C= (p.Arg47=)
c.1108C= (p.Arg370=)
c.1105C= (p.Arg369=)
c.1168C= (p.Arg390=)
n.117C=
c.157C= (p.Arg53=)
c.1102C= (p.Arg368=)
c.1054C= (p.Arg352=)
n.485C=
n.403C=
c.94C= (p.Arg32=)
c.-36C= (n.-36C=)
7g.44145645G>TCA367398973GCKc.*1103C>A (n.*1103C>A)
c.*225C>A (n.*225C>A)
n.331C>A
c.139C>A (p.Arg47Ser)
c.1108C>A (p.Arg370Ser)
c.1105C>A (p.Arg369Ser)
c.1168C>A (p.Arg390Ser)
n.117C>A
c.157C>A (p.Arg53Ser)
c.1102C>A (p.Arg368Ser)
c.1054C>A (p.Arg352Ser)
n.485C>A
n.403C>A
c.94C>A (p.Arg32Ser)
c.-36C>A (n.-36C>A)
dbSNP gnomAD v4
7g.44145646G>ACA454863315GCKc.*1102C>T (n.*1102C>T)
c.*224C>T (n.*224C>T)
n.330C>T
c.138C>T (p.Arg46=)
c.1107C>T (p.Arg369=)
c.1104C>T (p.Arg368=)
c.1167C>T (p.Arg389=)
n.116C>T
c.156C>T (p.Arg52=)
c.1101C>T (p.Arg367=)
c.1053C>T (p.Arg351=)
n.484C>T
n.402C>T
c.93C>T (p.Arg31=)
c.-37C>T (n.-37C>T)
gnomAD v4
7g.44145646G>CCA454863317GCKc.*1102C>G (n.*1102C>G)
c.*224C>G (n.*224C>G)
n.330C>G
c.138C>G (p.Arg46=)
c.1107C>G (p.Arg369=)
c.1104C>G (p.Arg368=)
c.1167C>G (p.Arg389=)
n.116C>G
c.156C>G (p.Arg52=)
c.1101C>G (p.Arg367=)
c.1053C>G (p.Arg351=)
n.484C>G
n.402C>G
c.93C>G (p.Arg31=)
c.-37C>G (n.-37C>G)
7g.44145646G>TCA454863318GCKc.*1102C>A (n.*1102C>A)
c.*224C>A (n.*224C>A)
n.330C>A
c.138C>A (p.Arg46=)
c.1107C>A (p.Arg369=)
c.1104C>A (p.Arg368=)
c.1167C>A (p.Arg389=)
n.116C>A
c.156C>A (p.Arg52=)
c.1101C>A (p.Arg367=)
c.1053C>A (p.Arg351=)
n.484C>A
n.402C>A
c.93C>A (p.Arg31=)
c.-37C>A (n.-37C>A)
gnomAD v4
7g.44145647C>ACA367398976GCKc.*1101G>T (n.*1101G>T)
c.*223G>T (n.*223G>T)
n.329G>T
c.137G>T (p.Arg46Leu)
c.1106G>T (p.Arg369Leu)
c.1103G>T (p.Arg368Leu)
c.1166G>T (p.Arg389Leu)
n.115G>T
c.155G>T (p.Arg52Leu)
c.1100G>T (p.Arg367Leu)
c.1052G>T (p.Arg351Leu)
n.483G>T
n.401G>T
c.92G>T (p.Arg31Leu)
c.-38G>T (n.-38G>T)
7g.44145647C>GCA367398978GCKc.*1101G>C (n.*1101G>C)
c.*223G>C (n.*223G>C)
n.329G>C
c.137G>C (p.Arg46Pro)
c.1106G>C (p.Arg369Pro)
c.1103G>C (p.Arg368Pro)
c.1166G>C (p.Arg389Pro)
n.115G>C
c.155G>C (p.Arg52Pro)
c.1100G>C (p.Arg367Pro)
c.1052G>C (p.Arg351Pro)
n.483G>C
n.401G>C
c.92G>C (p.Arg31Pro)
c.-38G>C (n.-38G>C)
7g.44145647C>TCA367398980GCKc.*1101G>A (n.*1101G>A)
c.*223G>A (n.*223G>A)
n.329G>A
c.137G>A (p.Arg46His)
c.1106G>A (p.Arg369His)
c.1103G>A (p.Arg368His)
c.1166G>A (p.Arg389His)
n.115G>A
c.155G>A (p.Arg52His)
c.1100G>A (p.Arg367His)
c.1052G>A (p.Arg351His)
n.483G>A
n.401G>A
c.92G>A (p.Arg31His)
c.-38G>A (n.-38G>A)
gnomAD v4
7g.44145648_44145683delCA2695203047GCKc.*1066_*1101del (n.*1066_*1101del)
c.*188_*223del (n.*188_*223del)
n.294_329del
c.102_137del (p.Leu35_Arg46del)
c.1071_1106del (p.Leu358_Arg369del)
c.1068_1103del (p.Leu357_Arg368del)
c.1131_1166del (p.Leu378_Arg389del)
n.80_115del
c.120_155del (p.Leu41_Arg52del)
c.1065_1100del (p.Leu356_Arg367del)
c.1017_1052del (p.Leu340_Arg351del)
n.448_483del
n.366_401del
c.57_92del (p.Leu20_Arg31del)
c.-73_-38del (n.-73_-38del)
7g.44145648G>ACA367398984GCKc.*1100C>T (n.*1100C>T)
c.*222C>T (n.*222C>T)
n.328C>T
c.136C>T (p.Arg46Cys)
c.1105C>T (p.Arg369Cys)
c.1102C>T (p.Arg368Cys)
c.1165C>T (p.Arg389Cys)
n.114C>T
c.154C>T (p.Arg52Cys)
c.1099C>T (p.Arg367Cys)
c.1051C>T (p.Arg351Cys)
n.482C>T
n.400C>T
c.91C>T (p.Arg31Cys)
c.-39C>T (n.-39C>T)
gnomAD v4
7g.44145648G>CCA367398986GCKc.*1100C>G (n.*1100C>G)
c.*222C>G (n.*222C>G)
n.328C>G
c.136C>G (p.Arg46Gly)
c.1105C>G (p.Arg369Gly)
c.1102C>G (p.Arg368Gly)
c.1165C>G (p.Arg389Gly)
n.114C>G
c.154C>G (p.Arg52Gly)
c.1099C>G (p.Arg367Gly)
c.1051C>G (p.Arg351Gly)
n.482C>G
n.400C>G
c.91C>G (p.Arg31Gly)
c.-39C>G (n.-39C>G)
dbSNP
7g.44145648G=CA1703612940GCKc.*1100C= (n.*1100C=)
c.*222C= (n.*222C=)
n.328C=
c.136C= (p.Arg46=)
c.1105C= (p.Arg369=)
c.1102C= (p.Arg368=)
c.1165C= (p.Arg389=)
n.114C=
c.154C= (p.Arg52=)
c.1099C= (p.Arg367=)
c.1051C= (p.Arg351=)
n.482C=
n.400C=
c.91C= (p.Arg31=)
c.-39C= (n.-39C=)
7g.44145648G>TCA367398982GCKc.*1100C>A (n.*1100C>A)
c.*222C>A (n.*222C>A)
n.328C>A
c.136C>A (p.Arg46Ser)
c.1105C>A (p.Arg369Ser)
c.1102C>A (p.Arg368Ser)
c.1165C>A (p.Arg389Ser)
n.114C>A
c.154C>A (p.Arg52Ser)
c.1099C>A (p.Arg367Ser)
c.1051C>A (p.Arg351Ser)
n.482C>A
n.400C>A
c.91C>A (p.Arg31Ser)
c.-39C>A (n.-39C>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145649C>ACA454863041GCKc.*1099G>T (n.*1099G>T)
c.*221G>T (n.*221G>T)
n.327G>T
c.135G>T (p.Val45=)
c.1104G>T (p.Val368=)
c.1101G>T (p.Val367=)
c.1164G>T (p.Val388=)
n.113G>T
c.153G>T (p.Val51=)
c.1098G>T (p.Val366=)
c.1050G>T (p.Val350=)
n.481G>T
n.399G>T
c.90G>T (p.Val30=)
c.-40G>T (n.-40G>T)
7g.44145649C=CA1703612941GCKc.*1099G= (n.*1099G=)
c.*221G= (n.*221G=)
n.327G=
c.135G= (p.Val45=)
c.1104G= (p.Val368=)
c.1101G= (p.Val367=)
c.1164G= (p.Val388=)
n.113G=
c.153G= (p.Val51=)
c.1098G= (p.Val366=)
c.1050G= (p.Val350=)
n.481G=
n.399G=
c.90G= (p.Val30=)
c.-40G= (n.-40G=)
7g.44145649C>GCA454863043GCKc.*1099G>C (n.*1099G>C)
c.*221G>C (n.*221G>C)
n.327G>C
c.135G>C (p.Val45=)
c.1104G>C (p.Val368=)
c.1101G>C (p.Val367=)
c.1164G>C (p.Val388=)
n.113G>C
c.153G>C (p.Val51=)
c.1098G>C (p.Val366=)
c.1050G>C (p.Val350=)
n.481G>C
n.399G>C
c.90G>C (p.Val30=)
c.-40G>C (n.-40G>C)
dbSNP
7g.44145649C>TCA454863042GCKc.*1099G>A (n.*1099G>A)
c.*221G>A (n.*221G>A)
n.327G>A
c.135G>A (p.Val45=)
c.1104G>A (p.Val368=)
c.1101G>A (p.Val367=)
c.1164G>A (p.Val388=)
n.113G>A
c.153G>A (p.Val51=)
c.1098G>A (p.Val366=)
c.1050G>A (p.Val350=)
n.481G>A
n.399G>A
c.90G>A (p.Val30=)
c.-40G>A (n.-40G>A)
7g.44145650A>CCA367398987GCKc.*1098T>G (n.*1098T>G)
c.*220T>G (n.*220T>G)
n.326T>G
c.134T>G (p.Val45Gly)
c.1103T>G (p.Val368Gly)
c.1100T>G (p.Val367Gly)
c.1163T>G (p.Val388Gly)
n.112T>G
c.152T>G (p.Val51Gly)
c.1097T>G (p.Val366Gly)
c.1049T>G (p.Val350Gly)
n.480T>G
n.398T>G
c.89T>G (p.Val30Gly)
c.-41T>G (n.-41T>G)
7g.44145650A>GCA367398990GCKc.*1098T>C (n.*1098T>C)
c.*220T>C (n.*220T>C)
n.326T>C
c.134T>C (p.Val45Ala)
c.1103T>C (p.Val368Ala)
c.1100T>C (p.Val367Ala)
c.1163T>C (p.Val388Ala)
n.112T>C
c.152T>C (p.Val51Ala)
c.1097T>C (p.Val366Ala)
c.1049T>C (p.Val350Ala)
n.480T>C
n.398T>C
c.89T>C (p.Val30Ala)
c.-41T>C (n.-41T>C)
7g.44145650A>TCA367398993GCKc.*1098T>A (n.*1098T>A)
c.*220T>A (n.*220T>A)
n.326T>A
c.134T>A (p.Val45Glu)
c.1103T>A (p.Val368Glu)
c.1100T>A (p.Val367Glu)
c.1163T>A (p.Val388Glu)
n.112T>A
c.152T>A (p.Val51Glu)
c.1097T>A (p.Val366Glu)
c.1049T>A (p.Val350Glu)
n.480T>A
n.398T>A
c.89T>A (p.Val30Glu)
c.-41T>A (n.-41T>A)
7g.44145651C>ACA367398995GCKc.*1097G>T (n.*1097G>T)
c.*219G>T (n.*219G>T)
n.325G>T
c.133G>T (p.Val45Leu)
c.1102G>T (p.Val368Leu)
c.1099G>T (p.Val367Leu)
c.1162G>T (p.Val388Leu)
n.111G>T
c.151G>T (p.Val51Leu)
c.1096G>T (p.Val366Leu)
c.1048G>T (p.Val350Leu)
n.479G>T
n.397G>T
c.88G>T (p.Val30Leu)
c.-42G>T (n.-42G>T)
ClinVar
7g.44145651C=CA1703612942GCKc.*1097G= (n.*1097G=)
c.*219G= (n.*219G=)
n.325G=
c.133G= (p.Val45=)
c.1102G= (p.Val368=)
c.1099G= (p.Val367=)
c.1162G= (p.Val388=)
n.111G=
c.151G= (p.Val51=)
c.1096G= (p.Val366=)
c.1048G= (p.Val350=)
n.479G=
n.397G=
c.88G= (p.Val30=)
c.-42G= (n.-42G=)
7g.44145651C>GCA367398997GCKc.*1097G>C (n.*1097G>C)
c.*219G>C (n.*219G>C)
n.325G>C
c.133G>C (p.Val45Leu)
c.1102G>C (p.Val368Leu)
c.1099G>C (p.Val367Leu)
c.1162G>C (p.Val388Leu)
n.111G>C
c.151G>C (p.Val51Leu)
c.1096G>C (p.Val366Leu)
c.1048G>C (p.Val350Leu)
n.479G>C
n.397G>C
c.88G>C (p.Val30Leu)
c.-42G>C (n.-42G>C)
7g.44145651C>TCA16605802GCKc.*1097G>A (n.*1097G>A)
c.*219G>A (n.*219G>A)
n.325G>A
c.133G>A (p.Val45Met)
c.1102G>A (p.Val368Met)
c.1099G>A (p.Val367Met)
c.1162G>A (p.Val388Met)
n.111G>A
c.151G>A (p.Val51Met)
c.1096G>A (p.Val366Met)
c.1048G>A (p.Val350Met)
n.479G>A
n.397G>A
c.88G>A (p.Val30Met)
c.-42G>A (n.-42G>A)
ClinVar dbSNP gnomAD v4
7g.44145652G>ACA454863044GCKc.*1096C>T (n.*1096C>T)
c.*218C>T (n.*218C>T)
n.324C>T
c.132C>T (p.Ile44=)
c.1101C>T (p.Ile367=)
c.1098C>T (p.Ile366=)
c.1161C>T (p.Ile387=)
n.110C>T
c.150C>T (p.Ile50=)
c.1095C>T (p.Ile365=)
c.1047C>T (p.Ile349=)
n.478C>T
n.396C>T
c.87C>T (p.Ile29=)
c.-43C>T (n.-43C>T)
ClinVar dbSNP gnomAD v4
7g.44145652G>CCA367399000GCKc.*1096C>G (n.*1096C>G)
c.*218C>G (n.*218C>G)
n.324C>G
c.132C>G (p.Ile44Met)
c.1101C>G (p.Ile367Met)
c.1098C>G (p.Ile366Met)
c.1161C>G (p.Ile387Met)
n.110C>G
c.150C>G (p.Ile50Met)
c.1095C>G (p.Ile365Met)
c.1047C>G (p.Ile349Met)
n.478C>G
n.396C>G
c.87C>G (p.Ile29Met)
c.-43C>G (n.-43C>G)
gnomAD v4
7g.44145652G>TCA454863045GCKc.*1096C>A (n.*1096C>A)
c.*218C>A (n.*218C>A)
n.324C>A
c.132C>A (p.Ile44=)
c.1101C>A (p.Ile367=)
c.1098C>A (p.Ile366=)
c.1161C>A (p.Ile387=)
n.110C>A
c.150C>A (p.Ile50=)
c.1095C>A (p.Ile365=)
c.1047C>A (p.Ile349=)
n.478C>A
n.396C>A
c.87C>A (p.Ile29=)
c.-43C>A (n.-43C>A)
gnomAD v4
7g.44145653A>CCA367399003GCKc.*1095T>G (n.*1095T>G)
c.*217T>G (n.*217T>G)
n.323T>G
c.131T>G (p.Ile44Ser)
c.1100T>G (p.Ile367Ser)
c.1097T>G (p.Ile366Ser)
c.1160T>G (p.Ile387Ser)
n.109T>G
c.149T>G (p.Ile50Ser)
c.1094T>G (p.Ile365Ser)
c.1046T>G (p.Ile349Ser)
n.477T>G
n.395T>G
c.86T>G (p.Ile29Ser)
c.-44T>G (n.-44T>G)
7g.44145653A>GCA367399005GCKc.*1095T>C (n.*1095T>C)
c.*217T>C (n.*217T>C)
n.323T>C
c.131T>C (p.Ile44Thr)
c.1100T>C (p.Ile367Thr)
c.1097T>C (p.Ile366Thr)
c.1160T>C (p.Ile387Thr)
n.109T>C
c.149T>C (p.Ile50Thr)
c.1094T>C (p.Ile365Thr)
c.1046T>C (p.Ile349Thr)
n.477T>C
n.395T>C
c.86T>C (p.Ile29Thr)
c.-44T>C (n.-44T>C)
7g.44145653A>TCA367399008GCKc.*1095T>A (n.*1095T>A)
c.*217T>A (n.*217T>A)
n.323T>A
c.131T>A (p.Ile44Asn)
c.1100T>A (p.Ile367Asn)
c.1097T>A (p.Ile366Asn)
c.1160T>A (p.Ile387Asn)
n.109T>A
c.149T>A (p.Ile50Asn)
c.1094T>A (p.Ile365Asn)
c.1046T>A (p.Ile349Asn)
n.477T>A
n.395T>A
c.86T>A (p.Ile29Asn)
c.-44T>A (n.-44T>A)
7g.44145654T>ACA367399011GCKc.*1094A>T (n.*1094A>T)
c.*216A>T (n.*216A>T)
n.322A>T
c.130A>T (p.Ile44Phe)
c.1099A>T (p.Ile367Phe)
c.1096A>T (p.Ile366Phe)
c.1159A>T (p.Ile387Phe)
n.108A>T
c.148A>T (p.Ile50Phe)
c.1093A>T (p.Ile365Phe)
c.1045A>T (p.Ile349Phe)
n.476A>T
n.394A>T
c.85A>T (p.Ile29Phe)
c.-45A>T (n.-45A>T)
7g.44145654T>CCA367399014GCKc.*1094A>G (n.*1094A>G)
c.*216A>G (n.*216A>G)
n.322A>G
c.130A>G (p.Ile44Val)
c.1099A>G (p.Ile367Val)
c.1096A>G (p.Ile366Val)
c.1159A>G (p.Ile387Val)
n.108A>G
c.148A>G (p.Ile50Val)
c.1093A>G (p.Ile365Val)
c.1045A>G (p.Ile349Val)
n.476A>G
n.394A>G
c.85A>G (p.Ile29Val)
c.-45A>G (n.-45A>G)
7g.44145654T>GCA367399016GCKc.*1094A>C (n.*1094A>C)
c.*216A>C (n.*216A>C)
n.322A>C
c.130A>C (p.Ile44Leu)
c.1099A>C (p.Ile367Leu)
c.1096A>C (p.Ile366Leu)
c.1159A>C (p.Ile387Leu)
n.108A>C
c.148A>C (p.Ile50Leu)
c.1093A>C (p.Ile365Leu)
c.1045A>C (p.Ile349Leu)
n.476A>C
n.394A>C
c.85A>C (p.Ile29Leu)
c.-45A>C (n.-45A>C)
7g.44145655G>ACA454863046GCKc.*1093C>T (n.*1093C>T)
c.*215C>T (n.*215C>T)
n.321C>T
c.129C>T (p.Asp43=)
c.1098C>T (p.Asp366=)
c.1095C>T (p.Asp365=)
c.1158C>T (p.Asp386=)
n.107C>T
c.147C>T (p.Asp49=)
c.1092C>T (p.Asp364=)
c.1044C>T (p.Asp348=)
n.475C>T
n.393C>T
c.84C>T (p.Asp28=)
c.-46C>T (n.-46C>T)
7g.44145655G>CCA367399022GCKc.*1093C>G (n.*1093C>G)
c.*215C>G (n.*215C>G)
n.321C>G
c.129C>G (p.Asp43Glu)
c.1098C>G (p.Asp366Glu)
c.1095C>G (p.Asp365Glu)
c.1158C>G (p.Asp386Glu)
n.107C>G
c.147C>G (p.Asp49Glu)
c.1092C>G (p.Asp364Glu)
c.1044C>G (p.Asp348Glu)
n.475C>G
n.393C>G
c.84C>G (p.Asp28Glu)
c.-46C>G (n.-46C>G)
7g.44145655G>TCA367399021GCKc.*1093C>A (n.*1093C>A)
c.*215C>A (n.*215C>A)
n.321C>A
c.129C>A (p.Asp43Glu)
c.1098C>A (p.Asp366Glu)
c.1095C>A (p.Asp365Glu)
c.1158C>A (p.Asp386Glu)
n.107C>A
c.147C>A (p.Asp49Glu)
c.1092C>A (p.Asp364Glu)
c.1044C>A (p.Asp348Glu)
n.475C>A
n.393C>A
c.84C>A (p.Asp28Glu)
c.-46C>A (n.-46C>A)
gnomAD v4
7g.44145659_44145660insTCGTCGCCA2695203048GCKc.*1093_*1094insGAGCGAC (n.*1093_*1094insGAGCGAC)
c.*215_*216insGAGCGAC (n.*215_*216insGAGCGAC)
n.321_322insGAGCGAC
c.129_130insGAGCGAC (p.Ile44GlufsTer?)
c.1098_1099insGAGCGAC (p.Ile367GlufsTer?)
c.1095_1096insGAGCGAC (p.Ile366GlufsTer?)
c.1158_1159insGAGCGAC (p.Ile387GlufsTer?)
n.107_108insGAGCGAC
c.147_148insGAGCGAC (p.Ile50GlufsTer?)
c.1092_1093insGAGCGAC (p.Ile365GlufsTer?)
c.1044_1045insGAGCGAC (p.Ile349GlufsTer?)
n.475_476insGAGCGAC
n.393_394insGAGCGAC
c.84_85insGAGCGAC (p.Ile29GlufsTer?)
c.-46_-45insGAGCGAC (n.-46_-45insGAGCGAC)
7g.44145656T>ACA367399024GCKc.*1092A>T (n.*1092A>T)
c.*214A>T (n.*214A>T)
n.320A>T
c.128A>T (p.Asp43Val)
c.1097A>T (p.Asp366Val)
c.1094A>T (p.Asp365Val)
c.1157A>T (p.Asp386Val)
n.106A>T
c.146A>T (p.Asp49Val)
c.1091A>T (p.Asp364Val)
c.1043A>T (p.Asp348Val)
n.474A>T
n.392A>T
c.83A>T (p.Asp28Val)
c.-47A>T (n.-47A>T)
7g.44145656T>CCA367399025GCKc.*1092A>G (n.*1092A>G)
c.*214A>G (n.*214A>G)
n.320A>G
c.128A>G (p.Asp43Gly)
c.1097A>G (p.Asp366Gly)
c.1094A>G (p.Asp365Gly)
c.1157A>G (p.Asp386Gly)
n.106A>G
c.146A>G (p.Asp49Gly)
c.1091A>G (p.Asp364Gly)
c.1043A>G (p.Asp348Gly)
n.474A>G
n.392A>G
c.83A>G (p.Asp28Gly)
c.-47A>G (n.-47A>G)
7g.44145656T>GCA367399028GCKc.*1092A>C (n.*1092A>C)
c.*214A>C (n.*214A>C)
n.320A>C
c.128A>C (p.Asp43Ala)
c.1097A>C (p.Asp366Ala)
c.1094A>C (p.Asp365Ala)
c.1157A>C (p.Asp386Ala)
n.106A>C
c.146A>C (p.Asp49Ala)
c.1091A>C (p.Asp364Ala)
c.1043A>C (p.Asp348Ala)
n.474A>C
n.392A>C
c.83A>C (p.Asp28Ala)
c.-47A>C (n.-47A>C)
7g.44145656_44145659dupCA2695203049GCKc.*1089_*1092dup (n.*1089_*1092dup)
c.*211_*214dup (n.*211_*214dup)
n.317_320dup
c.125_128dup (p.Asp43GlufsTer?)
c.1094_1097dup (p.Asp366GlufsTer?)
c.1091_1094dup (p.Asp365GlufsTer?)
c.1154_1157dup (p.Asp386GlufsTer?)
n.103_106dup
c.143_146dup (p.Asp49GlufsTer?)
c.1088_1091dup (p.Asp364GlufsTer?)
c.1040_1043dup (p.Asp348GlufsTer?)
n.471_474dup
n.389_392dup
c.80_83dup (p.Asp28GlufsTer?)
c.-50_-47dup (n.-50_-47dup)
7g.44145657C>ACA367399031GCKc.*1091G>T (n.*1091G>T)
c.*213G>T (n.*213G>T)
n.319G>T
c.127G>T (p.Asp43Tyr)
c.1096G>T (p.Asp366Tyr)
c.1093G>T (p.Asp365Tyr)
c.1156G>T (p.Asp386Tyr)
n.105G>T
c.145G>T (p.Asp49Tyr)
c.1090G>T (p.Asp364Tyr)
c.1042G>T (p.Asp348Tyr)
n.473G>T
n.391G>T
c.82G>T (p.Asp28Tyr)
c.-48G>T (n.-48G>T)
7g.44145657C>GCA367399033GCKc.*1091G>C (n.*1091G>C)
c.*213G>C (n.*213G>C)
n.319G>C
c.127G>C (p.Asp43His)
c.1096G>C (p.Asp366His)
c.1093G>C (p.Asp365His)
c.1156G>C (p.Asp386His)
n.105G>C
c.145G>C (p.Asp49His)
c.1090G>C (p.Asp364His)
c.1042G>C (p.Asp348His)
n.473G>C
n.391G>C
c.82G>C (p.Asp28His)
c.-48G>C (n.-48G>C)
7g.44145657C>TCA367399036GCKc.*1091G>A (n.*1091G>A)
c.*213G>A (n.*213G>A)
n.319G>A
c.127G>A (p.Asp43Asn)
c.1096G>A (p.Asp366Asn)
c.1093G>A (p.Asp365Asn)
c.1156G>A (p.Asp386Asn)
n.105G>A
c.145G>A (p.Asp49Asn)
c.1090G>A (p.Asp364Asn)
c.1042G>A (p.Asp348Asn)
n.473G>A
n.391G>A
c.82G>A (p.Asp28Asn)
c.-48G>A (n.-48G>A)
ClinVar
7g.44145658G>ACA454863047GCKc.*1090C>T (n.*1090C>T)
c.*212C>T (n.*212C>T)
n.318C>T
c.126C>T (p.Cys42=)
c.1095C>T (p.Cys365=)
c.1092C>T (p.Cys364=)
c.1155C>T (p.Cys385=)
n.104C>T
c.144C>T (p.Cys48=)
c.1089C>T (p.Cys363=)
c.1041C>T (p.Cys347=)
n.472C>T
n.390C>T
c.81C>T (p.Cys27=)
c.-49C>T (n.-49C>T)
gnomAD v4 COSMIC COSMIC COSMIC
7g.44145658G>CCA367399038GCKc.*1090C>G (n.*1090C>G)
c.*212C>G (n.*212C>G)
n.318C>G
c.126C>G (p.Cys42Trp)
c.1095C>G (p.Cys365Trp)
c.1092C>G (p.Cys364Trp)
c.1155C>G (p.Cys385Trp)
n.104C>G
c.144C>G (p.Cys48Trp)
c.1089C>G (p.Cys363Trp)
c.1041C>G (p.Cys347Trp)
n.472C>G
n.390C>G
c.81C>G (p.Cys27Trp)
c.-49C>G (n.-49C>G)
7g.44145658G>TCA367399040GCKc.*1090C>A (n.*1090C>A)
c.*212C>A (n.*212C>A)
n.318C>A
c.126C>A (p.Cys42Ter)
c.1095C>A (p.Cys365Ter)
c.1092C>A (p.Cys364Ter)
c.1155C>A (p.Cys385Ter)
n.104C>A
c.144C>A (p.Cys48Ter)
c.1089C>A (p.Cys363Ter)
c.1041C>A (p.Cys347Ter)
n.472C>A
n.390C>A
c.81C>A (p.Cys27Ter)
c.-49C>A (n.-49C>A)
gnomAD v4
7g.44145659C>ACA367399044GCKc.*1089G>T (n.*1089G>T)
c.*211G>T (n.*211G>T)
n.317G>T
c.125G>T (p.Cys42Phe)
c.1094G>T (p.Cys365Phe)
c.1091G>T (p.Cys364Phe)
c.1154G>T (p.Cys385Phe)
n.103G>T
c.143G>T (p.Cys48Phe)
c.1088G>T (p.Cys363Phe)
c.1040G>T (p.Cys347Phe)
n.471G>T
n.389G>T
c.80G>T (p.Cys27Phe)
c.-50G>T (n.-50G>T)
gnomAD v4
7g.44145659C>GCA367399046GCKc.*1089G>C (n.*1089G>C)
c.*211G>C (n.*211G>C)
n.317G>C
c.125G>C (p.Cys42Ser)
c.1094G>C (p.Cys365Ser)
c.1091G>C (p.Cys364Ser)
c.1154G>C (p.Cys385Ser)
n.103G>C
c.143G>C (p.Cys48Ser)
c.1088G>C (p.Cys363Ser)
c.1040G>C (p.Cys347Ser)
n.471G>C
n.389G>C
c.80G>C (p.Cys27Ser)
c.-50G>C (n.-50G>C)
7g.44145659C>TCA367399048GCKc.*1089G>A (n.*1089G>A)
c.*211G>A (n.*211G>A)
n.317G>A
c.125G>A (p.Cys42Tyr)
c.1094G>A (p.Cys365Tyr)
c.1091G>A (p.Cys364Tyr)
c.1154G>A (p.Cys385Tyr)
n.103G>A
c.143G>A (p.Cys48Tyr)
c.1088G>A (p.Cys363Tyr)
c.1040G>A (p.Cys347Tyr)
n.471G>A
n.389G>A
c.80G>A (p.Cys27Tyr)
c.-50G>A (n.-50G>A)
7g.44145660A>CCA367399051GCKc.*1088T>G (n.*1088T>G)
c.*210T>G (n.*210T>G)
n.316T>G
c.124T>G (p.Cys42Gly)
c.1093T>G (p.Cys365Gly)
c.1090T>G (p.Cys364Gly)
c.1153T>G (p.Cys385Gly)
n.102T>G
c.142T>G (p.Cys48Gly)
c.1087T>G (p.Cys363Gly)
c.1039T>G (p.Cys347Gly)
n.470T>G
n.388T>G
c.79T>G (p.Cys27Gly)
c.-51T>G (n.-51T>G)
7g.44145660A>GCA367399052GCKc.*1088T>C (n.*1088T>C)
c.*210T>C (n.*210T>C)
n.316T>C
c.124T>C (p.Cys42Arg)
c.1093T>C (p.Cys365Arg)
c.1090T>C (p.Cys364Arg)
c.1153T>C (p.Cys385Arg)
n.102T>C
c.142T>C (p.Cys48Arg)
c.1087T>C (p.Cys363Arg)
c.1039T>C (p.Cys347Arg)
n.470T>C
n.388T>C
c.79T>C (p.Cys27Arg)
c.-51T>C (n.-51T>C)
7g.44145660A>TCA367399055GCKc.*1088T>A (n.*1088T>A)
c.*210T>A (n.*210T>A)
n.316T>A
c.124T>A (p.Cys42Ser)
c.1093T>A (p.Cys365Ser)
c.1090T>A (p.Cys364Ser)
c.1153T>A (p.Cys385Ser)
n.102T>A
c.142T>A (p.Cys48Ser)
c.1087T>A (p.Cys363Ser)
c.1039T>A (p.Cys347Ser)
n.470T>A
n.388T>A
c.79T>A (p.Cys27Ser)
c.-51T>A (n.-51T>A)
7g.44145660_44145664delCA2695203050GCKc.*1084_*1088del (n.*1084_*1088del)
c.*206_*210del (n.*206_*210del)
n.312_316del
c.120_124del (p.Asp41ArgfsTer?)
c.1089_1093del (p.Asp364ArgfsTer?)
c.1086_1090del (p.Asp363ArgfsTer?)
c.1149_1153del (p.Asp384ArgfsTer?)
n.98_102del
c.138_142del (p.Asp47ArgfsTer?)
c.1083_1087del (p.Asp362ArgfsTer?)
c.1035_1039del (p.Asp346ArgfsTer?)
n.466_470del
n.384_388del
c.75_79del (p.Asp26ArgfsTer?)
c.-55_-51del (n.-55_-51del)
7g.44145661G>ACA4239434GCKc.*1087C>T (n.*1087C>T)
c.*209C>T (n.*209C>T)
n.315C>T
c.123C>T (p.Asp41=)
c.1092C>T (p.Asp364=)
c.1089C>T (p.Asp363=)
c.1152C>T (p.Asp384=)
n.101C>T
c.141C>T (p.Asp47=)
c.1086C>T (p.Asp362=)
c.1038C>T (p.Asp346=)
n.469C>T
n.387C>T
c.78C>T (p.Asp26=)
c.-52C>T (n.-52C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.44145661G>CCA367399060GCKc.*1087C>G (n.*1087C>G)
c.*209C>G (n.*209C>G)
n.315C>G
c.123C>G (p.Asp41Glu)
c.1092C>G (p.Asp364Glu)
c.1089C>G (p.Asp363Glu)
c.1152C>G (p.Asp384Glu)
n.101C>G
c.141C>G (p.Asp47Glu)
c.1086C>G (p.Asp362Glu)
c.1038C>G (p.Asp346Glu)
n.469C>G
n.387C>G
c.78C>G (p.Asp26Glu)
c.-52C>G (n.-52C>G)
7g.44145661G=CA1703612943GCKc.*1087C= (n.*1087C=)
c.*209C= (n.*209C=)
n.315C=
c.123C= (p.Asp41=)
c.1092C= (p.Asp364=)
c.1089C= (p.Asp363=)
c.1152C= (p.Asp384=)
n.101C=
c.141C= (p.Asp47=)
c.1086C= (p.Asp362=)
c.1038C= (p.Asp346=)
n.469C=
n.387C=
c.78C= (p.Asp26=)
c.-52C= (n.-52C=)
7g.44145661G>TCA367399058GCKc.*1087C>A (n.*1087C>A)
c.*209C>A (n.*209C>A)
n.315C>A
c.123C>A (p.Asp41Glu)
c.1092C>A (p.Asp364Glu)
c.1089C>A (p.Asp363Glu)
c.1152C>A (p.Asp384Glu)
n.101C>A
c.141C>A (p.Asp47Glu)
c.1086C>A (p.Asp362Glu)
c.1038C>A (p.Asp346Glu)
n.469C>A
n.387C>A
c.78C>A (p.Asp26Glu)
c.-52C>A (n.-52C>A)
gnomAD v4
7g.44145662T>ACA367399064GCKc.*1086A>T (n.*1086A>T)
c.*208A>T (n.*208A>T)
n.314A>T
c.122A>T (p.Asp41Val)
c.1091A>T (p.Asp364Val)
c.1088A>T (p.Asp363Val)
c.1151A>T (p.Asp384Val)
n.100A>T
c.140A>T (p.Asp47Val)
c.1085A>T (p.Asp362Val)
c.1037A>T (p.Asp346Val)
n.468A>T
n.386A>T
c.77A>T (p.Asp26Val)
c.-53A>T (n.-53A>T)
7g.44145662T>CCA367399062GCKc.*1086A>G (n.*1086A>G)
c.*208A>G (n.*208A>G)
n.314A>G
c.122A>G (p.Asp41Gly)
c.1091A>G (p.Asp364Gly)
c.1088A>G (p.Asp363Gly)
c.1151A>G (p.Asp384Gly)
n.100A>G
c.140A>G (p.Asp47Gly)
c.1085A>G (p.Asp362Gly)
c.1037A>G (p.Asp346Gly)
n.468A>G
n.386A>G
c.77A>G (p.Asp26Gly)
c.-53A>G (n.-53A>G)
7g.44145662T>GCA367399066GCKc.*1086A>C (n.*1086A>C)
c.*208A>C (n.*208A>C)
n.314A>C
c.122A>C (p.Asp41Ala)
c.1091A>C (p.Asp364Ala)
c.1088A>C (p.Asp363Ala)
c.1151A>C (p.Asp384Ala)
n.100A>C
c.140A>C (p.Asp47Ala)
c.1085A>C (p.Asp362Ala)
c.1037A>C (p.Asp346Ala)
n.468A>C
n.386A>C
c.77A>C (p.Asp26Ala)
c.-53A>C (n.-53A>C)
gnomAD v4
7g.44145663C>ACA367399069GCKc.*1085G>T (n.*1085G>T)
c.*207G>T (n.*207G>T)
n.313G>T
c.121G>T (p.Asp41Tyr)
c.1090G>T (p.Asp364Tyr)
c.1087G>T (p.Asp363Tyr)
c.1150G>T (p.Asp384Tyr)
n.99G>T
c.139G>T (p.Asp47Tyr)
c.1084G>T (p.Asp362Tyr)
c.1036G>T (p.Asp346Tyr)
n.467G>T
n.385G>T
c.76G>T (p.Asp26Tyr)
c.-54G>T (n.-54G>T)
gnomAD v4
7g.44145663C=CA1703612944GCKc.*1085G= (n.*1085G=)
c.*207G= (n.*207G=)
n.313G=
c.121G= (p.Asp41=)
c.1090G= (p.Asp364=)
c.1087G= (p.Asp363=)
c.1150G= (p.Asp384=)
n.99G=
c.139G= (p.Asp47=)
c.1084G= (p.Asp362=)
c.1036G= (p.Asp346=)
n.467G=
n.385G=
c.76G= (p.Asp26=)
c.-54G= (n.-54G=)
7g.44145663C>GCA367399072GCKc.*1085G>C (n.*1085G>C)
c.*207G>C (n.*207G>C)
n.313G>C
c.121G>C (p.Asp41His)
c.1090G>C (p.Asp364His)
c.1087G>C (p.Asp363His)
c.1150G>C (p.Asp384His)
n.99G>C
c.139G>C (p.Asp47His)
c.1084G>C (p.Asp362His)
c.1036G>C (p.Asp346His)
n.467G>C
n.385G>C
c.76G>C (p.Asp26His)
c.-54G>C (n.-54G>C)
7g.44145663C>TCA16618466GCKc.*1085G>A (n.*1085G>A)
c.*207G>A (n.*207G>A)
n.313G>A
c.121G>A (p.Asp41Asn)
c.1090G>A (p.Asp364Asn)
c.1087G>A (p.Asp363Asn)
c.1150G>A (p.Asp384Asn)
n.99G>A
c.139G>A (p.Asp47Asn)
c.1084G>A (p.Asp362Asn)
c.1036G>A (p.Asp346Asn)
n.467G>A
n.385G>A
c.76G>A (p.Asp26Asn)
c.-54G>A (n.-54G>A)
ClinVar dbSNP
7g.44145664G>ACA4239435GCKc.*1084C>T (n.*1084C>T)
c.*206C>T (n.*206C>T)
n.312C>T
c.120C>T (p.Thr40=)
c.1089C>T (p.Thr363=)
c.1086C>T (p.Thr362=)
c.1149C>T (p.Thr383=)
n.98C>T
c.138C>T (p.Thr46=)
c.1083C>T (p.Thr361=)
c.1035C>T (p.Thr345=)
n.466C>T
n.384C>T
c.75C>T (p.Thr25=)
c.-55C>T (n.-55C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145664G>CCA454863048GCKc.*1084C>G (n.*1084C>G)
c.*206C>G (n.*206C>G)
n.312C>G
c.120C>G (p.Thr40=)
c.1089C>G (p.Thr363=)
c.1086C>G (p.Thr362=)
c.1149C>G (p.Thr383=)
n.98C>G
c.138C>G (p.Thr46=)
c.1083C>G (p.Thr361=)
c.1035C>G (p.Thr345=)
n.466C>G
n.384C>G
c.75C>G (p.Thr25=)
c.-55C>G (n.-55C>G)
gnomAD v4
7g.44145664G=CA1703612945GCKc.*1084C= (n.*1084C=)
c.*206C= (n.*206C=)
n.312C=
c.120C= (p.Thr40=)
c.1089C= (p.Thr363=)
c.1086C= (p.Thr362=)
c.1149C= (p.Thr383=)
n.98C=
c.138C= (p.Thr46=)
c.1083C= (p.Thr361=)
c.1035C= (p.Thr345=)
n.466C=
n.384C=
c.75C= (p.Thr25=)
c.-55C= (n.-55C=)
7g.44145664G>TCA454863049GCKc.*1084C>A (n.*1084C>A)
c.*206C>A (n.*206C>A)
n.312C>A
c.120C>A (p.Thr40=)
c.1089C>A (p.Thr363=)
c.1086C>A (p.Thr362=)
c.1149C>A (p.Thr383=)
n.98C>A
c.138C>A (p.Thr46=)
c.1083C>A (p.Thr361=)
c.1035C>A (p.Thr345=)
n.466C>A
n.384C>A
c.75C>A (p.Thr25=)
c.-55C>A (n.-55C>A)
gnomAD v4
7g.44145667_44145669delCA2695203052GCKc.*1082_*1084del (n.*1082_*1084del)
c.*204_*206del (n.*204_*206del)
n.310_312del
c.118_120del (p.Thr40del)
c.1087_1089del (p.Thr363del)
c.1084_1086del (p.Thr362del)
c.1147_1149del (p.Thr383del)
n.96_98del
c.136_138del (p.Thr46del)
c.1081_1083del (p.Thr361del)
c.1033_1035del (p.Thr345del)
n.464_466del
n.382_384del
c.73_75del (p.Thr25del)
c.-57_-55del (n.-57_-55del)
7g.44145665G>ACA367399081GCKc.*1083C>T (n.*1083C>T)
c.*205C>T (n.*205C>T)
n.311C>T
c.119C>T (p.Thr40Ile)
c.1088C>T (p.Thr363Ile)
c.1085C>T (p.Thr362Ile)
c.1148C>T (p.Thr383Ile)
n.97C>T
c.137C>T (p.Thr46Ile)
c.1082C>T (p.Thr361Ile)
c.1034C>T (p.Thr345Ile)
n.465C>T
n.383C>T
c.74C>T (p.Thr25Ile)
c.-56C>T (n.-56C>T)
ClinVar dbSNP gnomAD v4
7g.44145665G>CCA367399077GCKc.*1083C>G (n.*1083C>G)
c.*205C>G (n.*205C>G)
n.311C>G
c.119C>G (p.Thr40Ser)
c.1088C>G (p.Thr363Ser)
c.1085C>G (p.Thr362Ser)
c.1148C>G (p.Thr383Ser)
n.97C>G
c.137C>G (p.Thr46Ser)
c.1082C>G (p.Thr361Ser)
c.1034C>G (p.Thr345Ser)
n.465C>G
n.383C>G
c.74C>G (p.Thr25Ser)
c.-56C>G (n.-56C>G)
gnomAD v4
7g.44145665G=CA1703612946GCKc.*1083C= (n.*1083C=)
c.*205C= (n.*205C=)
n.311C=
c.119C= (p.Thr40=)
c.1088C= (p.Thr363=)
c.1085C= (p.Thr362=)
c.1148C= (p.Thr383=)
n.97C=
c.137C= (p.Thr46=)
c.1082C= (p.Thr361=)
c.1034C= (p.Thr345=)
n.465C=
n.383C=
c.74C= (p.Thr25=)
c.-56C= (n.-56C=)
7g.44145665G>TCA367399079GCKc.*1083C>A (n.*1083C>A)
c.*205C>A (n.*205C>A)
n.311C>A
c.119C>A (p.Thr40Asn)
c.1088C>A (p.Thr363Asn)
c.1085C>A (p.Thr362Asn)
c.1148C>A (p.Thr383Asn)
n.97C>A
c.137C>A (p.Thr46Asn)
c.1082C>A (p.Thr361Asn)
c.1034C>A (p.Thr345Asn)
n.465C>A
n.383C>A
c.74C>A (p.Thr25Asn)
c.-56C>A (n.-56C>A)
gnomAD v4
7g.44145666T>ACA367399083GCKc.*1082A>T (n.*1082A>T)
c.*204A>T (n.*204A>T)
n.310A>T
c.118A>T (p.Thr40Ser)
c.1087A>T (p.Thr363Ser)
c.1084A>T (p.Thr362Ser)
c.1147A>T (p.Thr383Ser)
n.96A>T
c.136A>T (p.Thr46Ser)
c.1081A>T (p.Thr361Ser)
c.1033A>T (p.Thr345Ser)
n.464A>T
n.382A>T
c.73A>T (p.Thr25Ser)
c.-57A>T (n.-57A>T)
7g.44145666T>CCA367399086GCKc.*1082A>G (n.*1082A>G)
c.*204A>G (n.*204A>G)
n.310A>G
c.118A>G (p.Thr40Ala)
c.1087A>G (p.Thr363Ala)
c.1084A>G (p.Thr362Ala)
c.1147A>G (p.Thr383Ala)
n.96A>G
c.136A>G (p.Thr46Ala)
c.1081A>G (p.Thr361Ala)
c.1033A>G (p.Thr345Ala)
n.464A>G
n.382A>G
c.73A>G (p.Thr25Ala)
c.-57A>G (n.-57A>G)
7g.44145666T>GCA367399089GCKc.*1082A>C (n.*1082A>C)
c.*204A>C (n.*204A>C)
n.310A>C
c.118A>C (p.Thr40Pro)
c.1087A>C (p.Thr363Pro)
c.1084A>C (p.Thr362Pro)
c.1147A>C (p.Thr383Pro)
n.96A>C
c.136A>C (p.Thr46Pro)
c.1081A>C (p.Thr361Pro)
c.1033A>C (p.Thr345Pro)
n.464A>C
n.382A>C
c.73A>C (p.Thr25Pro)
c.-57A>C (n.-57A>C)
7g.44145667G>ACA454863051GCKc.*1081C>T (n.*1081C>T)
c.*203C>T (n.*203C>T)
n.309C>T
c.117C>T (p.Thr39=)
c.1086C>T (p.Thr362=)
c.1083C>T (p.Thr361=)
c.1146C>T (p.Thr382=)
n.95C>T
c.135C>T (p.Thr45=)
c.1080C>T (p.Thr360=)
c.1032C>T (p.Thr344=)
n.463C>T
n.381C>T
c.72C>T (p.Thr24=)
c.-58C>T (n.-58C>T)
dbSNP gnomAD v2 gnomAD v4
7g.44145667G>CCA454863052GCKc.*1081C>G (n.*1081C>G)
c.*203C>G (n.*203C>G)
n.309C>G
c.117C>G (p.Thr39=)
c.1086C>G (p.Thr362=)
c.1083C>G (p.Thr361=)
c.1146C>G (p.Thr382=)
n.95C>G
c.135C>G (p.Thr45=)
c.1080C>G (p.Thr360=)
c.1032C>G (p.Thr344=)
n.463C>G
n.381C>G
c.72C>G (p.Thr24=)
c.-58C>G (n.-58C>G)
7g.44145667G=CA1703612947GCKc.*1081C= (n.*1081C=)
c.*203C= (n.*203C=)
n.309C=
c.117C= (p.Thr39=)
c.1086C= (p.Thr362=)
c.1083C= (p.Thr361=)
c.1146C= (p.Thr382=)
n.95C=
c.135C= (p.Thr45=)
c.1080C= (p.Thr360=)
c.1032C= (p.Thr344=)
n.463C=
n.381C=
c.72C= (p.Thr24=)
c.-58C= (n.-58C=)
7g.44145667G>TCA454863053GCKc.*1081C>A (n.*1081C>A)
c.*203C>A (n.*203C>A)
n.309C>A
c.117C>A (p.Thr39=)
c.1086C>A (p.Thr362=)
c.1083C>A (p.Thr361=)
c.1146C>A (p.Thr382=)
n.95C>A
c.135C>A (p.Thr45=)
c.1080C>A (p.Thr360=)
c.1032C>A (p.Thr344=)
n.463C>A
n.381C>A
c.72C>A (p.Thr24=)
c.-58C>A (n.-58C>A)
7g.44145668dupCA2695203053GCKc.*1081dup (n.*1081dup)
c.*203dup (n.*203dup)
n.309dup
c.117dup (p.Thr40HisfsTer?)
c.1086dup (p.Thr363HisfsTer?)
c.1083dup (p.Thr362HisfsTer?)
c.1146dup (p.Thr383HisfsTer?)
n.95dup
c.135dup (p.Thr46HisfsTer?)
c.1080dup (p.Thr361HisfsTer?)
c.1032dup (p.Thr345HisfsTer?)
n.463dup
n.381dup
c.72dup (p.Thr25HisfsTer?)
c.-58dup (n.-58dup)
ClinVar
7g.44145668G>ACA367399091GCKc.*1080C>T (n.*1080C>T)
c.*202C>T (n.*202C>T)
n.308C>T
c.116C>T (p.Thr39Ile)
c.1085C>T (p.Thr362Ile)
c.1082C>T (p.Thr361Ile)
c.1145C>T (p.Thr382Ile)
n.94C>T
c.134C>T (p.Thr45Ile)
c.1079C>T (p.Thr360Ile)
c.1031C>T (p.Thr344Ile)
n.462C>T
n.380C>T
c.71C>T (p.Thr24Ile)
c.-59C>T (n.-59C>T)
7g.44145668G>CCA367399094GCKc.*1080C>G (n.*1080C>G)
c.*202C>G (n.*202C>G)
n.308C>G
c.116C>G (p.Thr39Ser)
c.1085C>G (p.Thr362Ser)
c.1082C>G (p.Thr361Ser)
c.1145C>G (p.Thr382Ser)
n.94C>G
c.134C>G (p.Thr45Ser)
c.1079C>G (p.Thr360Ser)
c.1031C>G (p.Thr344Ser)
n.462C>G
n.380C>G
c.71C>G (p.Thr24Ser)
c.-59C>G (n.-59C>G)
gnomAD v4
7g.44145668G>TCA367399096GCKc.*1080C>A (n.*1080C>A)
c.*202C>A (n.*202C>A)
n.308C>A
c.116C>A (p.Thr39Asn)
c.1085C>A (p.Thr362Asn)
c.1082C>A (p.Thr361Asn)
c.1145C>A (p.Thr382Asn)
n.94C>A
c.134C>A (p.Thr45Asn)
c.1079C>A (p.Thr360Asn)
c.1031C>A (p.Thr344Asn)
n.462C>A
n.380C>A
c.71C>A (p.Thr24Asn)
c.-59C>A (n.-59C>A)
7g.44145669T>ACA367399100GCKc.*1079A>T (n.*1079A>T)
c.*201A>T (n.*201A>T)
n.307A>T
c.115A>T (p.Thr39Ser)
c.1084A>T (p.Thr362Ser)
c.1081A>T (p.Thr361Ser)
c.1144A>T (p.Thr382Ser)
n.93A>T
c.133A>T (p.Thr45Ser)
c.1078A>T (p.Thr360Ser)
c.1030A>T (p.Thr344Ser)
n.461A>T
n.379A>T
c.70A>T (p.Thr24Ser)
c.-60A>T (n.-60A>T)
dbSNP gnomAD v3 gnomAD v4
7g.44145669T>CCA367399102GCKc.*1079A>G (n.*1079A>G)
c.*201A>G (n.*201A>G)
n.307A>G
c.115A>G (p.Thr39Ala)
c.1084A>G (p.Thr362Ala)
c.1081A>G (p.Thr361Ala)
c.1144A>G (p.Thr382Ala)
n.93A>G
c.133A>G (p.Thr45Ala)
c.1078A>G (p.Thr360Ala)
c.1030A>G (p.Thr344Ala)
n.461A>G
n.379A>G
c.70A>G (p.Thr24Ala)
c.-60A>G (n.-60A>G)
7g.44145669T>GCA367399105GCKc.*1079A>C (n.*1079A>C)
c.*201A>C (n.*201A>C)
n.307A>C
c.115A>C (p.Thr39Pro)
c.1084A>C (p.Thr362Pro)
c.1081A>C (p.Thr361Pro)
c.1144A>C (p.Thr382Pro)
n.93A>C
c.133A>C (p.Thr45Pro)
c.1078A>C (p.Thr360Pro)
c.1030A>C (p.Thr344Pro)
n.461A>C
n.379A>C
c.70A>C (p.Thr24Pro)
c.-60A>C (n.-60A>C)
gnomAD v4
7g.44145669T=CA1703612948GCKc.*1079A= (n.*1079A=)
c.*201A= (n.*201A=)
n.307A=
c.115A= (p.Thr39=)
c.1084A= (p.Thr362=)
c.1081A= (p.Thr361=)
c.1144A= (p.Thr382=)
n.93A=
c.133A= (p.Thr45=)
c.1078A= (p.Thr360=)
c.1030A= (p.Thr344=)
n.461A=
n.379A=
c.70A= (p.Thr24=)
c.-60A= (n.-60A=)
7g.44145670C>ACA454863054GCKc.*1078G>T (n.*1078G>T)
c.*200G>T (n.*200G>T)
n.306G>T
c.114G>T (p.Ser38=)
c.1083G>T (p.Ser361=)
c.1080G>T (p.Ser360=)
c.1143G>T (p.Ser381=)
n.92G>T
c.132G>T (p.Ser44=)
c.1077G>T (p.Ser359=)
c.1029G>T (p.Ser343=)
n.460G>T
n.378G>T
c.69G>T (p.Ser23=)
c.-61G>T (n.-61G>T)
gnomAD v4
7g.44145670C=CA1703612949GCKc.*1078G= (n.*1078G=)
c.*200G= (n.*200G=)
n.306G=
c.114G= (p.Ser38=)
c.1083G= (p.Ser361=)
c.1080G= (p.Ser360=)
c.1143G= (p.Ser381=)
n.92G=
c.132G= (p.Ser44=)
c.1077G= (p.Ser359=)
c.1029G= (p.Ser343=)
n.460G=
n.378G=
c.69G= (p.Ser23=)
c.-61G= (n.-61G=)
7g.44145670C>GCA454863055GCKc.*1078G>C (n.*1078G>C)
c.*200G>C (n.*200G>C)
n.306G>C
c.114G>C (p.Ser38=)
c.1083G>C (p.Ser361=)
c.1080G>C (p.Ser360=)
c.1143G>C (p.Ser381=)
n.92G>C
c.132G>C (p.Ser44=)
c.1077G>C (p.Ser359=)
c.1029G>C (p.Ser343=)
n.460G>C
n.378G>C
c.69G>C (p.Ser23=)
c.-61G>C (n.-61G>C)
7g.44145670C>TCA4239436GCKc.*1078G>A (n.*1078G>A)
c.*200G>A (n.*200G>A)
n.306G>A
c.114G>A (p.Ser38=)
c.1083G>A (p.Ser361=)
c.1080G>A (p.Ser360=)
c.1143G>A (p.Ser381=)
n.92G>A
c.132G>A (p.Ser44=)
c.1077G>A (p.Ser359=)
c.1029G>A (p.Ser343=)
n.460G>A
n.378G>A
c.69G>A (p.Ser23=)
c.-61G>A (n.-61G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145671G>ACA367399114GCKc.*1077C>T (n.*1077C>T)
c.*199C>T (n.*199C>T)
n.305C>T
c.113C>T (p.Ser38Leu)
c.1082C>T (p.Ser361Leu)
c.1079C>T (p.Ser360Leu)
c.1142C>T (p.Ser381Leu)
n.91C>T
c.131C>T (p.Ser44Leu)
c.1076C>T (p.Ser359Leu)
c.1028C>T (p.Ser343Leu)
n.459C>T
n.377C>T
c.68C>T (p.Ser23Leu)
c.-62C>T (n.-62C>T)
ClinVar gnomAD v4
7g.44145671G>CCA367399110GCKc.*1077C>G (n.*1077C>G)
c.*199C>G (n.*199C>G)
n.305C>G
c.113C>G (p.Ser38Trp)
c.1082C>G (p.Ser361Trp)
c.1079C>G (p.Ser360Trp)
c.1142C>G (p.Ser381Trp)
n.91C>G
c.131C>G (p.Ser44Trp)
c.1076C>G (p.Ser359Trp)
c.1028C>G (p.Ser343Trp)
n.459C>G
n.377C>G
c.68C>G (p.Ser23Trp)
c.-62C>G (n.-62C>G)
ClinVar
7g.44145671G>TCA367399113GCKc.*1077C>A (n.*1077C>A)
c.*199C>A (n.*199C>A)
n.305C>A
c.113C>A (p.Ser38Ter)
c.1082C>A (p.Ser361Ter)
c.1079C>A (p.Ser360Ter)
c.1142C>A (p.Ser381Ter)
n.91C>A
c.131C>A (p.Ser44Ter)
c.1076C>A (p.Ser359Ter)
c.1028C>A (p.Ser343Ter)
n.459C>A
n.377C>A
c.68C>A (p.Ser23Ter)
c.-62C>A (n.-62C>A)
ClinVar dbSNP gnomAD v4
7g.44145672A>CCA367399116GCKc.*1076T>G (n.*1076T>G)
c.*198T>G (n.*198T>G)
n.304T>G
c.112T>G (p.Ser38Ala)
c.1081T>G (p.Ser361Ala)
c.1078T>G (p.Ser360Ala)
c.1141T>G (p.Ser381Ala)
n.90T>G
c.130T>G (p.Ser44Ala)
c.1075T>G (p.Ser359Ala)
c.1027T>G (p.Ser343Ala)
n.458T>G
n.376T>G
c.67T>G (p.Ser23Ala)
c.-63T>G (n.-63T>G)
7g.44145672A>GCA367399118GCKc.*1076T>C (n.*1076T>C)
c.*198T>C (n.*198T>C)
n.304T>C
c.112T>C (p.Ser38Pro)
c.1081T>C (p.Ser361Pro)
c.1078T>C (p.Ser360Pro)
c.1141T>C (p.Ser381Pro)
n.90T>C
c.130T>C (p.Ser44Pro)
c.1075T>C (p.Ser359Pro)
c.1027T>C (p.Ser343Pro)
n.458T>C
n.376T>C
c.67T>C (p.Ser23Pro)
c.-63T>C (n.-63T>C)
gnomAD v4
7g.44145672A>TCA367399121GCKc.*1076T>A (n.*1076T>A)
c.*198T>A (n.*198T>A)
n.304T>A
c.112T>A (p.Ser38Thr)
c.1081T>A (p.Ser361Thr)
c.1078T>A (p.Ser360Thr)
c.1141T>A (p.Ser381Thr)
n.90T>A
c.130T>A (p.Ser44Thr)
c.1075T>A (p.Ser359Thr)
c.1027T>A (p.Ser343Thr)
n.458T>A
n.376T>A
c.67T>A (p.Ser23Thr)
c.-63T>A (n.-63T>A)
7g.44145673G>ACA454863058GCKc.*1075C>T (n.*1075C>T)
c.*197C>T (n.*197C>T)
n.303C>T
c.111C>T (p.Pro37=)
c.1080C>T (p.Pro360=)
c.1077C>T (p.Pro359=)
c.1140C>T (p.Pro380=)
n.89C>T
c.129C>T (p.Pro43=)
c.1074C>T (p.Pro358=)
c.1026C>T (p.Pro342=)
n.457C>T
n.375C>T
c.66C>T (p.Pro22=)
c.-64C>T (n.-64C>T)
7g.44145673G>CCA454863056GCKc.*1075C>G (n.*1075C>G)
c.*197C>G (n.*197C>G)
n.303C>G
c.111C>G (p.Pro37=)
c.1080C>G (p.Pro360=)
c.1077C>G (p.Pro359=)
c.1140C>G (p.Pro380=)
n.89C>G
c.129C>G (p.Pro43=)
c.1074C>G (p.Pro358=)
c.1026C>G (p.Pro342=)
n.457C>G
n.375C>G
c.66C>G (p.Pro22=)
c.-64C>G (n.-64C>G)
gnomAD v4
7g.44145673G>TCA454863057GCKc.*1075C>A (n.*1075C>A)
c.*197C>A (n.*197C>A)
n.303C>A
c.111C>A (p.Pro37=)
c.1080C>A (p.Pro360=)
c.1077C>A (p.Pro359=)
c.1140C>A (p.Pro380=)
n.89C>A
c.129C>A (p.Pro43=)
c.1074C>A (p.Pro358=)
c.1026C>A (p.Pro342=)
n.457C>A
n.375C>A
c.66C>A (p.Pro22=)
c.-64C>A (n.-64C>A)
gnomAD v4
7g.44145675delCA2580077161GCKc.*1075del (n.*1075del)
c.*197del (n.*197del)
n.303del
c.111del (p.Ser38ArgfsTer?)
c.1080del (p.Ser361ArgfsTer?)
c.1077del (p.Ser360ArgfsTer?)
c.1140del (p.Ser381ArgfsTer?)
n.89del
c.129del (p.Ser44ArgfsTer?)
c.1074del (p.Ser359ArgfsTer?)
c.1026del (p.Ser343ArgfsTer?)
n.457del
n.375del
c.66del (p.Ser23ArgfsTer?)
c.-64del (n.-64del)
ClinVar
7g.44145674G>ACA367399124GCKc.*1074C>T (n.*1074C>T)
c.*196C>T (n.*196C>T)
n.302C>T
c.110C>T (p.Pro37Leu)
c.1079C>T (p.Pro360Leu)
c.1076C>T (p.Pro359Leu)
c.1139C>T (p.Pro380Leu)
n.88C>T
c.128C>T (p.Pro43Leu)
c.1073C>T (p.Pro358Leu)
c.1025C>T (p.Pro342Leu)
n.456C>T
n.374C>T
c.65C>T (p.Pro22Leu)
c.-65C>T (n.-65C>T)
7g.44145674G>CCA367399125GCKc.*1074C>G (n.*1074C>G)
c.*196C>G (n.*196C>G)
n.302C>G
c.110C>G (p.Pro37Arg)
c.1079C>G (p.Pro360Arg)
c.1076C>G (p.Pro359Arg)
c.1139C>G (p.Pro380Arg)
n.88C>G
c.128C>G (p.Pro43Arg)
c.1073C>G (p.Pro358Arg)
c.1025C>G (p.Pro342Arg)
n.456C>G
n.374C>G
c.65C>G (p.Pro22Arg)
c.-65C>G (n.-65C>G)
7g.44145674G>TCA367399128GCKc.*1074C>A (n.*1074C>A)
c.*196C>A (n.*196C>A)
n.302C>A
c.110C>A (p.Pro37His)
c.1079C>A (p.Pro360His)
c.1076C>A (p.Pro359His)
c.1139C>A (p.Pro380His)
n.88C>A
c.128C>A (p.Pro43His)
c.1073C>A (p.Pro358His)
c.1025C>A (p.Pro342His)
n.456C>A
n.374C>A
c.65C>A (p.Pro22His)
c.-65C>A (n.-65C>A)
gnomAD v4
7g.44145675G>ACA367399131GCKc.*1073C>T (n.*1073C>T)
c.*195C>T (n.*195C>T)
n.301C>T
c.109C>T (p.Pro37Ser)
c.1078C>T (p.Pro360Ser)
c.1075C>T (p.Pro359Ser)
c.1138C>T (p.Pro380Ser)
n.87C>T
c.127C>T (p.Pro43Ser)
c.1072C>T (p.Pro358Ser)
c.1024C>T (p.Pro342Ser)
n.455C>T
n.373C>T
c.64C>T (p.Pro22Ser)
c.-66C>T (n.-66C>T)
dbSNP gnomAD v2 gnomAD v4
7g.44145675G>CCA367399134GCKc.*1073C>G (n.*1073C>G)
c.*195C>G (n.*195C>G)
n.301C>G
c.109C>G (p.Pro37Ala)
c.1078C>G (p.Pro360Ala)
c.1075C>G (p.Pro359Ala)
c.1138C>G (p.Pro380Ala)
n.87C>G
c.127C>G (p.Pro43Ala)
c.1072C>G (p.Pro358Ala)
c.1024C>G (p.Pro342Ala)
n.455C>G
n.373C>G
c.64C>G (p.Pro22Ala)
c.-66C>G (n.-66C>G)
7g.44145675G=CA1703612950GCKc.*1073C= (n.*1073C=)
c.*195C= (n.*195C=)
n.301C=
c.109C= (p.Pro37=)
c.1078C= (p.Pro360=)
c.1075C= (p.Pro359=)
c.1138C= (p.Pro380=)
n.87C=
c.127C= (p.Pro43=)
c.1072C= (p.Pro358=)
c.1024C= (p.Pro342=)
n.455C=
n.373C=
c.64C= (p.Pro22=)
c.-66C= (n.-66C=)
7g.44145675G>TCA367399135GCKc.*1073C>A (n.*1073C>A)
c.*195C>A (n.*195C>A)
n.301C>A
c.109C>A (p.Pro37Thr)
c.1078C>A (p.Pro360Thr)
c.1075C>A (p.Pro359Thr)
c.1138C>A (p.Pro380Thr)
n.87C>A
c.127C>A (p.Pro43Thr)
c.1072C>A (p.Pro358Thr)
c.1024C>A (p.Pro342Thr)
n.455C>A
n.373C>A
c.64C>A (p.Pro22Thr)
c.-66C>A (n.-66C>A)
gnomAD v4
7g.44145676T>ACA454863060GCKc.*1072A>T (n.*1072A>T)
c.*194A>T (n.*194A>T)
n.300A>T
c.108A>T (p.Arg36=)
c.1077A>T (p.Arg359=)
c.1074A>T (p.Arg358=)
c.1137A>T (p.Arg379=)
n.86A>T
c.126A>T (p.Arg42=)
c.1071A>T (p.Arg357=)
c.1023A>T (p.Arg341=)
n.454A>T
n.372A>T
c.63A>T (p.Arg21=)
c.-67A>T (n.-67A>T)
7g.44145676T>CCA454863063GCKc.*1072A>G (n.*1072A>G)
c.*194A>G (n.*194A>G)
n.300A>G
c.108A>G (p.Arg36=)
c.1077A>G (p.Arg359=)
c.1074A>G (p.Arg358=)
c.1137A>G (p.Arg379=)
n.86A>G
c.126A>G (p.Arg42=)
c.1071A>G (p.Arg357=)
c.1023A>G (p.Arg341=)
n.454A>G
n.372A>G
c.63A>G (p.Arg21=)
c.-67A>G (n.-67A>G)
gnomAD v4
7g.44145676T>GCA454863061GCKc.*1072A>C (n.*1072A>C)
c.*194A>C (n.*194A>C)
n.300A>C
c.108A>C (p.Arg36=)
c.1077A>C (p.Arg359=)
c.1074A>C (p.Arg358=)
c.1137A>C (p.Arg379=)
n.86A>C
c.126A>C (p.Arg42=)
c.1071A>C (p.Arg357=)
c.1023A>C (p.Arg341=)
n.454A>C
n.372A>C
c.63A>C (p.Arg21=)
c.-67A>C (n.-67A>C)
7g.44145677C>ACA367399138GCKc.*1071G>T (n.*1071G>T)
c.*193G>T (n.*193G>T)
n.299G>T
c.107G>T (p.Arg36Leu)
c.1076G>T (p.Arg359Leu)
c.1073G>T (p.Arg358Leu)
c.1136G>T (p.Arg379Leu)
n.85G>T
c.125G>T (p.Arg42Leu)
c.1070G>T (p.Arg357Leu)
c.1022G>T (p.Arg341Leu)
n.453G>T
n.371G>T
c.62G>T (p.Arg21Leu)
c.-68G>T (n.-68G>T)
gnomAD v4
7g.44145677C=CA1703612951GCKc.*1071G= (n.*1071G=)
c.*193G= (n.*193G=)
n.299G=
c.107G= (p.Arg36=)
c.1076G= (p.Arg359=)
c.1073G= (p.Arg358=)
c.1136G= (p.Arg379=)
n.85G=
c.125G= (p.Arg42=)
c.1070G= (p.Arg357=)
c.1022G= (p.Arg341=)
n.453G=
n.371G=
c.62G= (p.Arg21=)
c.-68G= (n.-68G=)
7g.44145677C>GCA367399140GCKc.*1071G>C (n.*1071G>C)
c.*193G>C (n.*193G>C)
n.299G>C
c.107G>C (p.Arg36Pro)
c.1076G>C (p.Arg359Pro)
c.1073G>C (p.Arg358Pro)
c.1136G>C (p.Arg379Pro)
n.85G>C
c.125G>C (p.Arg42Pro)
c.1070G>C (p.Arg357Pro)
c.1022G>C (p.Arg341Pro)
n.453G>C
n.371G>C
c.62G>C (p.Arg21Pro)
c.-68G>C (n.-68G>C)
COSMIC COSMIC COSMIC
7g.44145677C>TCA367399142GCKc.*1071G>A (n.*1071G>A)
c.*193G>A (n.*193G>A)
n.299G>A
c.107G>A (p.Arg36Gln)
c.1076G>A (p.Arg359Gln)
c.1073G>A (p.Arg358Gln)
c.1136G>A (p.Arg379Gln)
n.85G>A
c.125G>A (p.Arg42Gln)
c.1070G>A (p.Arg357Gln)
c.1022G>A (p.Arg341Gln)
n.453G>A
n.371G>A
c.62G>A (p.Arg21Gln)
c.-68G>A (n.-68G>A)
dbSNP
7g.44145678G>ACA4239437GCKc.*1070C>T (n.*1070C>T)
c.*192C>T (n.*192C>T)
n.298C>T
c.106C>T (p.Arg36Ter)
c.1075C>T (p.Arg359Ter)
c.1072C>T (p.Arg358Ter)
c.1135C>T (p.Arg379Ter)
n.84C>T
c.124C>T (p.Arg42Ter)
c.1069C>T (p.Arg357Ter)
c.1021C>T (p.Arg341Ter)
n.452C>T
n.370C>T
c.61C>T (p.Arg21Ter)
c.-69C>T (n.-69C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
7g.44145678G>CCA367399145GCKc.*1070C>G (n.*1070C>G)
c.*192C>G (n.*192C>G)
n.298C>G
c.106C>G (p.Arg36Gly)
c.1075C>G (p.Arg359Gly)
c.1072C>G (p.Arg358Gly)
c.1135C>G (p.Arg379Gly)
n.84C>G
c.124C>G (p.Arg42Gly)
c.1069C>G (p.Arg357Gly)
c.1021C>G (p.Arg341Gly)
n.452C>G
n.370C>G
c.61C>G (p.Arg21Gly)
c.-69C>G (n.-69C>G)
gnomAD v4
7g.44145678G=CA1703612952GCKc.*1070C= (n.*1070C=)
c.*192C= (n.*192C=)
n.298C=
c.106C= (p.Arg36=)
c.1075C= (p.Arg359=)
c.1072C= (p.Arg358=)
c.1135C= (p.Arg379=)
n.84C=
c.124C= (p.Arg42=)
c.1069C= (p.Arg357=)
c.1021C= (p.Arg341=)
n.452C=
n.370C=
c.61C= (p.Arg21=)
c.-69C= (n.-69C=)
7g.44145678G>TCA454863064GCKc.*1070C>A (n.*1070C>A)
c.*192C>A (n.*192C>A)
n.298C>A
c.106C>A (p.Arg36=)
c.1075C>A (p.Arg359=)
c.1072C>A (p.Arg358=)
c.1135C>A (p.Arg379=)
n.84C>A
c.124C>A (p.Arg42=)
c.1069C>A (p.Arg357=)
c.1021C>A (p.Arg341=)
n.452C>A
n.370C>A
c.61C>A (p.Arg21=)
c.-69C>A (n.-69C>A)
gnomAD v4
7g.44145679C>ACA454863065GCKc.*1069G>T (n.*1069G>T)
c.*191G>T (n.*191G>T)
n.297G>T
c.105G>T (p.Leu35=)
c.1074G>T (p.Leu358=)
c.1071G>T (p.Leu357=)
c.1134G>T (p.Leu378=)
n.83G>T
c.123G>T (p.Leu41=)
c.1068G>T (p.Leu356=)
c.1020G>T (p.Leu340=)
n.451G>T
n.369G>T
c.60G>T (p.Leu20=)
c.-70G>T (n.-70G>T)
gnomAD v4
7g.44145679C=CA1703612953GCKc.*1069G= (n.*1069G=)
c.*191G= (n.*191G=)
n.297G=
c.105G= (p.Leu35=)
c.1074G= (p.Leu358=)
c.1071G= (p.Leu357=)
c.1134G= (p.Leu378=)
n.83G=
c.123G= (p.Leu41=)
c.1068G= (p.Leu356=)
c.1020G= (p.Leu340=)
n.451G=
n.369G=
c.60G= (p.Leu20=)
c.-70G= (n.-70G=)
7g.44145679C>GCA4239438GCKc.*1069G>C (n.*1069G>C)
c.*191G>C (n.*191G>C)
n.297G>C
c.105G>C (p.Leu35=)
c.1074G>C (p.Leu358=)
c.1071G>C (p.Leu357=)
c.1134G>C (p.Leu378=)
n.83G>C
c.123G>C (p.Leu41=)
c.1068G>C (p.Leu356=)
c.1020G>C (p.Leu340=)
n.451G>C
n.369G>C
c.60G>C (p.Leu20=)
c.-70G>C (n.-70G>C)
dbSNP ExAC gnomAD v3 gnomAD v4
7g.44145679C>TCA454863066GCKc.*1069G>A (n.*1069G>A)
c.*191G>A (n.*191G>A)
n.297G>A
c.105G>A (p.Leu35=)
c.1074G>A (p.Leu358=)
c.1071G>A (p.Leu357=)
c.1134G>A (p.Leu378=)
n.83G>A
c.123G>A (p.Leu41=)
c.1068G>A (p.Leu356=)
c.1020G>A (p.Leu340=)
n.451G>A
n.369G>A
c.60G>A (p.Leu20=)
c.-70G>A (n.-70G>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145680A>CCA367399152GCKc.*1068T>G (n.*1068T>G)
c.*190T>G (n.*190T>G)
n.296T>G
c.104T>G (p.Leu35Arg)
c.1073T>G (p.Leu358Arg)
c.1070T>G (p.Leu357Arg)
c.1133T>G (p.Leu378Arg)
n.82T>G
c.122T>G (p.Leu41Arg)
c.1067T>G (p.Leu356Arg)
c.1019T>G (p.Leu340Arg)
n.450T>G
n.368T>G
c.59T>G (p.Leu20Arg)
c.-71T>G (n.-71T>G)
7g.44145680A>GCA367399154GCKc.*1068T>C (n.*1068T>C)
c.*190T>C (n.*190T>C)
n.296T>C
c.104T>C (p.Leu35Pro)
c.1073T>C (p.Leu358Pro)
c.1070T>C (p.Leu357Pro)
c.1133T>C (p.Leu378Pro)
n.82T>C
c.122T>C (p.Leu41Pro)
c.1067T>C (p.Leu356Pro)
c.1019T>C (p.Leu340Pro)
n.450T>C
n.368T>C
c.59T>C (p.Leu20Pro)
c.-71T>C (n.-71T>C)
7g.44145680A>TCA367399156GCKc.*1068T>A (n.*1068T>A)
c.*190T>A (n.*190T>A)
n.296T>A
c.104T>A (p.Leu35Gln)
c.1073T>A (p.Leu358Gln)
c.1070T>A (p.Leu357Gln)
c.1133T>A (p.Leu378Gln)
n.82T>A
c.122T>A (p.Leu41Gln)
c.1067T>A (p.Leu356Gln)
c.1019T>A (p.Leu340Gln)
n.450T>A
n.368T>A
c.59T>A (p.Leu20Gln)
c.-71T>A (n.-71T>A)
7g.44145681delCA2695203054GCKc.*1067del (n.*1067del)
c.*189del (n.*189del)
n.295del
c.103del (p.Leu35CysfsTer?)
c.1072del (p.Leu358CysfsTer?)
c.1069del (p.Leu357CysfsTer?)
c.1132del (p.Leu378CysfsTer?)
n.81del
c.121del (p.Leu41CysfsTer?)
c.1066del (p.Leu356CysfsTer?)
c.1018del (p.Leu340CysfsTer?)
n.449del
n.367del
c.58del (p.Leu20CysfsTer?)
c.-72del (n.-72del)
7g.44145681G>ACA454863067GCKc.*1067C>T (n.*1067C>T)
c.*189C>T (n.*189C>T)
n.295C>T
c.103C>T (p.Leu35=)
c.1072C>T (p.Leu358=)
c.1069C>T (p.Leu357=)
c.1132C>T (p.Leu378=)
n.81C>T
c.121C>T (p.Leu41=)
c.1066C>T (p.Leu356=)
c.1018C>T (p.Leu340=)
n.449C>T
n.367C>T
c.58C>T (p.Leu20=)
c.-72C>T (n.-72C>T)
7g.44145681G>CCA367399158GCKc.*1067C>G (n.*1067C>G)
c.*189C>G (n.*189C>G)
n.295C>G
c.103C>G (p.Leu35Val)
c.1072C>G (p.Leu358Val)
c.1069C>G (p.Leu357Val)
c.1132C>G (p.Leu378Val)
n.81C>G
c.121C>G (p.Leu41Val)
c.1066C>G (p.Leu356Val)
c.1018C>G (p.Leu340Val)
n.449C>G
n.367C>G
c.58C>G (p.Leu20Val)
c.-72C>G (n.-72C>G)
7g.44145681G>TCA367399161GCKc.*1067C>A (n.*1067C>A)
c.*189C>A (n.*189C>A)
n.295C>A
c.103C>A (p.Leu35Met)
c.1072C>A (p.Leu358Met)
c.1069C>A (p.Leu357Met)
c.1132C>A (p.Leu378Met)
n.81C>A
c.121C>A (p.Leu41Met)
c.1066C>A (p.Leu356Met)
c.1018C>A (p.Leu340Met)
n.449C>A
n.367C>A
c.58C>A (p.Leu20Met)
c.-72C>A (n.-72C>A)
gnomAD v4
7g.44145682C>ACA157913696GCKc.*1066G>T (n.*1066G>T)
c.*188G>T (n.*188G>T)
n.294G>T
c.102G>T (p.Gly34=)
c.1071G>T (p.Gly357=)
c.1068G>T (p.Gly356=)
c.1131G>T (p.Gly377=)
n.80G>T
c.120G>T (p.Gly40=)
c.1065G>T (p.Gly355=)
c.1017G>T (p.Gly339=)
n.448G>T
n.366G>T
c.57G>T (p.Gly19=)
c.-73G>T (n.-73G>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.44145682C=CA1703612954GCKc.*1066G= (n.*1066G=)
c.*188G= (n.*188G=)
n.294G=
c.102G= (p.Gly34=)
c.1071G= (p.Gly357=)
c.1068G= (p.Gly356=)
c.1131G= (p.Gly377=)
n.80G=
c.120G= (p.Gly40=)
c.1065G= (p.Gly355=)
c.1017G= (p.Gly339=)
n.448G=
n.366G=
c.57G= (p.Gly19=)
c.-73G= (n.-73G=)
7g.44145682C>GCA454863069GCKc.*1066G>C (n.*1066G>C)
c.*188G>C (n.*188G>C)
n.294G>C
c.102G>C (p.Gly34=)
c.1071G>C (p.Gly357=)
c.1068G>C (p.Gly356=)
c.1131G>C (p.Gly377=)
n.80G>C
c.120G>C (p.Gly40=)
c.1065G>C (p.Gly355=)
c.1017G>C (p.Gly339=)
n.448G>C
n.366G>C
c.57G>C (p.Gly19=)
c.-73G>C (n.-73G>C)
7g.44145682C>TCA454863070GCKc.*1066G>A (n.*1066G>A)
c.*188G>A (n.*188G>A)
n.294G>A
c.102G>A (p.Gly34=)
c.1071G>A (p.Gly357=)
c.1068G>A (p.Gly356=)
c.1131G>A (p.Gly377=)
n.80G>A
c.120G>A (p.Gly40=)
c.1065G>A (p.Gly355=)
c.1017G>A (p.Gly339=)
n.448G>A
n.366G>A
c.57G>A (p.Gly19=)
c.-73G>A (n.-73G>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145685delCA2682581874GCKc.*1066del (n.*1066del)
c.*188del (n.*188del)
n.294del
c.102del (p.Leu35CysfsTer?)
c.1071del (p.Leu358CysfsTer?)
c.1068del (p.Leu357CysfsTer?)
c.1131del (p.Leu378CysfsTer?)
n.80del
c.120del (p.Leu41CysfsTer?)
c.1065del (p.Leu356CysfsTer?)
c.1017del (p.Leu340CysfsTer?)
n.448del
n.366del
c.57del (p.Leu20CysfsTer?)
c.-73del (n.-73del)
gnomAD v4
7g.44145683C>ACA367399166GCKc.*1065G>T (n.*1065G>T)
c.*187G>T (n.*187G>T)
n.293G>T
c.101G>T (p.Gly34Val)
c.1070G>T (p.Gly357Val)
c.1067G>T (p.Gly356Val)
c.1130G>T (p.Gly377Val)
n.79G>T
c.119G>T (p.Gly40Val)
c.1064G>T (p.Gly355Val)
c.1016G>T (p.Gly339Val)
n.447G>T
n.365G>T
c.56G>T (p.Gly19Val)
c.-74G>T (n.-74G>T)
7g.44145683C>GCA367399168GCKc.*1065G>C (n.*1065G>C)
c.*187G>C (n.*187G>C)
n.293G>C
c.101G>C (p.Gly34Ala)
c.1070G>C (p.Gly357Ala)
c.1067G>C (p.Gly356Ala)
c.1130G>C (p.Gly377Ala)
n.79G>C
c.119G>C (p.Gly40Ala)
c.1064G>C (p.Gly355Ala)
c.1016G>C (p.Gly339Ala)
n.447G>C
n.365G>C
c.56G>C (p.Gly19Ala)
c.-74G>C (n.-74G>C)
7g.44145683C>TCA367399171GCKc.*1065G>A (n.*1065G>A)
c.*187G>A (n.*187G>A)
n.293G>A
c.101G>A (p.Gly34Glu)
c.1070G>A (p.Gly357Glu)
c.1067G>A (p.Gly356Glu)
c.1130G>A (p.Gly377Glu)
n.79G>A
c.119G>A (p.Gly40Glu)
c.1064G>A (p.Gly355Glu)
c.1016G>A (p.Gly339Glu)
n.447G>A
n.365G>A
c.56G>A (p.Gly19Glu)
c.-74G>A (n.-74G>A)
7g.44145684C>ACA367399173GCKc.*1064G>T (n.*1064G>T)
c.*186G>T (n.*186G>T)
n.292G>T
c.100G>T (p.Gly34Trp)
c.1069G>T (p.Gly357Trp)
c.1066G>T (p.Gly356Trp)
c.1129G>T (p.Gly377Trp)
n.78G>T
c.118G>T (p.Gly40Trp)
c.1063G>T (p.Gly355Trp)
c.1015G>T (p.Gly339Trp)
n.446G>T
n.364G>T
c.55G>T (p.Gly19Trp)
c.-75G>T (n.-75G>T)
7g.44145684C>GCA367399175GCKc.*1064G>C (n.*1064G>C)
c.*186G>C (n.*186G>C)
n.292G>C
c.100G>C (p.Gly34Arg)
c.1069G>C (p.Gly357Arg)
c.1066G>C (p.Gly356Arg)
c.1129G>C (p.Gly377Arg)
n.78G>C
c.118G>C (p.Gly40Arg)
c.1063G>C (p.Gly355Arg)
c.1015G>C (p.Gly339Arg)
n.446G>C
n.364G>C
c.55G>C (p.Gly19Arg)
c.-75G>C (n.-75G>C)
7g.44145684C>TCA367399177GCKc.*1064G>A (n.*1064G>A)
c.*186G>A (n.*186G>A)
n.292G>A
c.100G>A (p.Gly34Arg)
c.1069G>A (p.Gly357Arg)
c.1066G>A (p.Gly356Arg)
c.1129G>A (p.Gly377Arg)
n.78G>A
c.118G>A (p.Gly40Arg)
c.1063G>A (p.Gly355Arg)
c.1015G>A (p.Gly339Arg)
n.446G>A
n.364G>A
c.55G>A (p.Gly19Arg)
c.-75G>A (n.-75G>A)
gnomAD v4
7g.44145685C>ACA454863072GCKc.*1063G>T (n.*1063G>T)
c.*185G>T (n.*185G>T)
n.291G>T
c.99G>T (p.Leu33=)
c.1068G>T (p.Leu356=)
c.1065G>T (p.Leu355=)
c.1128G>T (p.Leu376=)
n.77G>T
c.117G>T (p.Leu39=)
c.1062G>T (p.Leu354=)
c.1014G>T (p.Leu338=)
n.445G>T
n.363G>T
c.54G>T (p.Leu18=)
c.-76G>T (n.-76G>T)
7g.44145685C>GCA454863075GCKc.*1063G>C (n.*1063G>C)
c.*185G>C (n.*185G>C)
n.291G>C
c.99G>C (p.Leu33=)
c.1068G>C (p.Leu356=)
c.1065G>C (p.Leu355=)
c.1128G>C (p.Leu376=)
n.77G>C
c.117G>C (p.Leu39=)
c.1062G>C (p.Leu354=)
c.1014G>C (p.Leu338=)
n.445G>C
n.363G>C
c.54G>C (p.Leu18=)
c.-76G>C (n.-76G>C)
gnomAD v4
7g.44145685C>TCA454863076GCKc.*1063G>A (n.*1063G>A)
c.*185G>A (n.*185G>A)
n.291G>A
c.99G>A (p.Leu33=)
c.1068G>A (p.Leu356=)
c.1065G>A (p.Leu355=)
c.1128G>A (p.Leu376=)
n.77G>A
c.117G>A (p.Leu39=)
c.1062G>A (p.Leu354=)
c.1014G>A (p.Leu338=)
n.445G>A
n.363G>A
c.54G>A (p.Leu18=)
c.-76G>A (n.-76G>A)
7g.44145686A=CA1703612955GCKc.*1062T= (n.*1062T=)
c.*184T= (n.*184T=)
n.290T=
c.98T= (p.Leu33=)
c.1067T= (p.Leu356=)
c.1064T= (p.Leu355=)
c.1127T= (p.Leu376=)
n.76T=
c.116T= (p.Leu39=)
c.1061T= (p.Leu354=)
c.1013T= (p.Leu338=)
n.444T=
n.362T=
c.53T= (p.Leu18=)
c.-77T= (n.-77T=)
7g.44145686A>CCA367399184GCKc.*1062T>G (n.*1062T>G)
c.*184T>G (n.*184T>G)
n.290T>G
c.98T>G (p.Leu33Arg)
c.1067T>G (p.Leu356Arg)
c.1064T>G (p.Leu355Arg)
c.1127T>G (p.Leu376Arg)
n.76T>G
c.116T>G (p.Leu39Arg)
c.1061T>G (p.Leu354Arg)
c.1013T>G (p.Leu338Arg)
n.444T>G
n.362T>G
c.53T>G (p.Leu18Arg)
c.-77T>G (n.-77T>G)
7g.44145686A>GCA367399180GCKc.*1062T>C (n.*1062T>C)
c.*184T>C (n.*184T>C)
n.290T>C
c.98T>C (p.Leu33Pro)
c.1067T>C (p.Leu356Pro)
c.1064T>C (p.Leu355Pro)
c.1127T>C (p.Leu376Pro)
n.76T>C
c.116T>C (p.Leu39Pro)
c.1061T>C (p.Leu354Pro)
c.1013T>C (p.Leu338Pro)
n.444T>C
n.362T>C
c.53T>C (p.Leu18Pro)
c.-77T>C (n.-77T>C)
ClinVar dbSNP gnomAD v4
7g.44145686A>TCA367399182GCKc.*1062T>A (n.*1062T>A)
c.*184T>A (n.*184T>A)
n.290T>A
c.98T>A (p.Leu33Gln)
c.1067T>A (p.Leu356Gln)
c.1064T>A (p.Leu355Gln)
c.1127T>A (p.Leu376Gln)
n.76T>A
c.116T>A (p.Leu39Gln)
c.1061T>A (p.Leu354Gln)
c.1013T>A (p.Leu338Gln)
n.444T>A
n.362T>A
c.53T>A (p.Leu18Gln)
c.-77T>A (n.-77T>A)
7g.44145687G>ACA4239439GCKc.*1061C>T (n.*1061C>T)
c.*183C>T (n.*183C>T)
n.289C>T
c.97C>T (p.Leu33=)
c.1066C>T (p.Leu356=)
c.1063C>T (p.Leu355=)
c.1126C>T (p.Leu376=)
n.75C>T
c.115C>T (p.Leu39=)
c.1060C>T (p.Leu354=)
c.1012C>T (p.Leu338=)
n.443C>T
n.361C>T
c.52C>T (p.Leu18=)
c.-78C>T (n.-78C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.44145687G>CCA367399187GCKc.*1061C>G (n.*1061C>G)
c.*183C>G (n.*183C>G)
n.289C>G
c.97C>G (p.Leu33Val)
c.1066C>G (p.Leu356Val)
c.1063C>G (p.Leu355Val)
c.1126C>G (p.Leu376Val)
n.75C>G
c.115C>G (p.Leu39Val)
c.1060C>G (p.Leu354Val)
c.1012C>G (p.Leu338Val)
n.443C>G
n.361C>G
c.52C>G (p.Leu18Val)
c.-78C>G (n.-78C>G)
7g.44145687G=CA1703612956GCKc.*1061C= (n.*1061C=)
c.*183C= (n.*183C=)
n.289C=
c.97C= (p.Leu33=)
c.1066C= (p.Leu356=)
c.1063C= (p.Leu355=)
c.1126C= (p.Leu376=)
n.75C=
c.115C= (p.Leu39=)
c.1060C= (p.Leu354=)
c.1012C= (p.Leu338=)
n.443C=
n.361C=
c.52C= (p.Leu18=)
c.-78C= (n.-78C=)
7g.44145687G>TCA367399190GCKc.*1061C>A (n.*1061C>A)
c.*183C>A (n.*183C>A)
n.289C>A
c.97C>A (p.Leu33Met)
c.1066C>A (p.Leu356Met)
c.1063C>A (p.Leu355Met)
c.1126C>A (p.Leu376Met)
n.75C>A
c.115C>A (p.Leu39Met)
c.1060C>A (p.Leu354Met)
c.1012C>A (p.Leu338Met)
n.443C>A
n.361C>A
c.52C>A (p.Leu18Met)
c.-78C>A (n.-78C>A)
gnomAD v4
7g.44145688C>ACA454863080GCKc.*1060G>T (n.*1060G>T)
c.*182G>T (n.*182G>T)
n.288G>T
c.96G>T (p.Thr32=)
c.1065G>T (p.Thr355=)
c.1062G>T (p.Thr354=)
c.1125G>T (p.Thr375=)
n.74G>T
c.114G>T (p.Thr38=)
c.1059G>T (p.Thr353=)
c.1011G>T (p.Thr337=)
n.442G>T
n.360G>T
c.51G>T (p.Thr17=)
c.-79G>T (n.-79G>T)
dbSNP gnomAD v3 gnomAD v4
7g.44145688C=CA1703612957GCKc.*1060G= (n.*1060G=)
c.*182G= (n.*182G=)
n.288G=
c.96G= (p.Thr32=)
c.1065G= (p.Thr355=)
c.1062G= (p.Thr354=)
c.1125G= (p.Thr375=)
n.74G=
c.114G= (p.Thr38=)
c.1059G= (p.Thr353=)
c.1011G= (p.Thr337=)
n.442G=
n.360G=
c.51G= (p.Thr17=)
c.-79G= (n.-79G=)
7g.44145688C>GCA454863081GCKc.*1060G>C (n.*1060G>C)
c.*182G>C (n.*182G>C)
n.288G>C
c.96G>C (p.Thr32=)
c.1065G>C (p.Thr355=)
c.1062G>C (p.Thr354=)
c.1125G>C (p.Thr375=)
n.74G>C
c.114G>C (p.Thr38=)
c.1059G>C (p.Thr353=)
c.1011G>C (p.Thr337=)
n.442G>C
n.360G>C
c.51G>C (p.Thr17=)
c.-79G>C (n.-79G>C)
dbSNP gnomAD v2 gnomAD v4
7g.44145688C>TCA454863082GCKc.*1060G>A (n.*1060G>A)
c.*182G>A (n.*182G>A)
n.288G>A
c.96G>A (p.Thr32=)
c.1065G>A (p.Thr355=)
c.1062G>A (p.Thr354=)
c.1125G>A (p.Thr375=)
n.74G>A
c.114G>A (p.Thr38=)
c.1059G>A (p.Thr353=)
c.1011G>A (p.Thr337=)
n.442G>A
n.360G>A
c.51G>A (p.Thr17=)
c.-79G>A (n.-79G>A)
gnomAD v4
7g.44145689G>ACA367399193GCKc.*1059C>T (n.*1059C>T)
c.*181C>T (n.*181C>T)
n.287C>T
c.95C>T (p.Thr32Met)
c.1064C>T (p.Thr355Met)
c.1061C>T (p.Thr354Met)
c.1124C>T (p.Thr375Met)
n.73C>T
c.113C>T (p.Thr38Met)
c.1058C>T (p.Thr353Met)
c.1010C>T (p.Thr337Met)
n.441C>T
n.359C>T
c.50C>T (p.Thr17Met)
c.-80C>T (n.-80C>T)
dbSNP gnomAD v2 gnomAD v4
7g.44145689G>CCA367399194GCKc.*1059C>G (n.*1059C>G)
c.*181C>G (n.*181C>G)
n.287C>G
c.95C>G (p.Thr32Arg)
c.1064C>G (p.Thr355Arg)
c.1061C>G (p.Thr354Arg)
c.1124C>G (p.Thr375Arg)
n.73C>G
c.113C>G (p.Thr38Arg)
c.1058C>G (p.Thr353Arg)
c.1010C>G (p.Thr337Arg)
n.441C>G
n.359C>G
c.50C>G (p.Thr17Arg)
c.-80C>G (n.-80C>G)
7g.44145689G=CA1703612958GCKc.*1059C= (n.*1059C=)
c.*181C= (n.*181C=)
n.287C=
c.95C= (p.Thr32=)
c.1064C= (p.Thr355=)
c.1061C= (p.Thr354=)
c.1124C= (p.Thr375=)
n.73C=
c.113C= (p.Thr38=)
c.1058C= (p.Thr353=)
c.1010C= (p.Thr337=)
n.441C=
n.359C=
c.50C= (p.Thr17=)
c.-80C= (n.-80C=)
7g.44145689G>TCA367399195GCKc.*1059C>A (n.*1059C>A)
c.*181C>A (n.*181C>A)
n.287C>A
c.95C>A (p.Thr32Lys)
c.1064C>A (p.Thr355Lys)
c.1061C>A (p.Thr354Lys)
c.1124C>A (p.Thr375Lys)
n.73C>A
c.113C>A (p.Thr38Lys)
c.1058C>A (p.Thr353Lys)
c.1010C>A (p.Thr337Lys)
n.441C>A
n.359C>A
c.50C>A (p.Thr17Lys)
c.-80C>A (n.-80C>A)
gnomAD v4
7g.44145690T>ACA367399200GCKc.*1058A>T (n.*1058A>T)
c.*180A>T (n.*180A>T)
n.286A>T
c.94A>T (p.Thr32Ser)
c.1063A>T (p.Thr355Ser)
c.1060A>T (p.Thr354Ser)
c.1123A>T (p.Thr375Ser)
n.72A>T
c.112A>T (p.Thr38Ser)
c.1057A>T (p.Thr353Ser)
c.1009A>T (p.Thr337Ser)
n.440A>T
n.358A>T
c.49A>T (p.Thr17Ser)
c.-81A>T (n.-81A>T)
7g.44145690T>CCA367399201GCKc.*1058A>G (n.*1058A>G)
c.*180A>G (n.*180A>G)
n.286A>G
c.94A>G (p.Thr32Ala)
c.1063A>G (p.Thr355Ala)
c.1060A>G (p.Thr354Ala)
c.1123A>G (p.Thr375Ala)
n.72A>G
c.112A>G (p.Thr38Ala)
c.1057A>G (p.Thr353Ala)
c.1009A>G (p.Thr337Ala)
n.440A>G
n.358A>G
c.49A>G (p.Thr17Ala)
c.-81A>G (n.-81A>G)
gnomAD v4
7g.44145690T>GCA367399204GCKc.*1058A>C (n.*1058A>C)
c.*180A>C (n.*180A>C)
n.286A>C
c.94A>C (p.Thr32Pro)
c.1063A>C (p.Thr355Pro)
c.1060A>C (p.Thr354Pro)
c.1123A>C (p.Thr375Pro)
n.72A>C
c.112A>C (p.Thr38Pro)
c.1057A>C (p.Thr353Pro)
c.1009A>C (p.Thr337Pro)
n.440A>C
n.358A>C
c.49A>C (p.Thr17Pro)
c.-81A>C (n.-81A>C)
7g.44145691G>ACA454863084GCKc.*1057C>T (n.*1057C>T)
c.*179C>T (n.*179C>T)
n.285C>T
c.93C>T (p.Ser31=)
c.1062C>T (p.Ser354=)
c.1059C>T (p.Ser353=)
c.1122C>T (p.Ser374=)
n.71C>T
c.111C>T (p.Ser37=)
c.1056C>T (p.Ser352=)
c.1008C>T (p.Ser336=)
n.439C>T
n.357C>T
c.48C>T (p.Ser16=)
c.-82C>T (n.-82C>T)
gnomAD v4
7g.44145691G>CCA367399206GCKc.*1057C>G (n.*1057C>G)
c.*179C>G (n.*179C>G)
n.285C>G
c.93C>G (p.Ser31Arg)
c.1062C>G (p.Ser354Arg)
c.1059C>G (p.Ser353Arg)
c.1122C>G (p.Ser374Arg)
n.71C>G
c.111C>G (p.Ser37Arg)
c.1056C>G (p.Ser352Arg)
c.1008C>G (p.Ser336Arg)
n.439C>G
n.357C>G
c.48C>G (p.Ser16Arg)
c.-82C>G (n.-82C>G)
7g.44145691G>TCA367399209GCKc.*1057C>A (n.*1057C>A)
c.*179C>A (n.*179C>A)
n.285C>A
c.93C>A (p.Ser31Arg)
c.1062C>A (p.Ser354Arg)
c.1059C>A (p.Ser353Arg)
c.1122C>A (p.Ser374Arg)
n.71C>A
c.111C>A (p.Ser37Arg)
c.1056C>A (p.Ser352Arg)
c.1008C>A (p.Ser336Arg)
n.439C>A
n.357C>A
c.48C>A (p.Ser16Arg)
c.-82C>A (n.-82C>A)
gnomAD v4
7g.44145692C>ACA367399217GCKc.*1056G>T (n.*1056G>T)
c.*178G>T (n.*178G>T)
n.284G>T
c.92G>T (p.Ser31Ile)
c.1061G>T (p.Ser354Ile)
c.1058G>T (p.Ser353Ile)
c.1121G>T (p.Ser374Ile)
n.70G>T
c.110G>T (p.Ser37Ile)
c.1055G>T (p.Ser352Ile)
c.1007G>T (p.Ser336Ile)
n.438G>T
n.356G>T
c.47G>T (p.Ser16Ile)
c.-83G>T (n.-83G>T)
gnomAD v4
7g.44145692C>GCA367399214GCKc.*1056G>C (n.*1056G>C)
c.*178G>C (n.*178G>C)
n.284G>C
c.92G>C (p.Ser31Thr)
c.1061G>C (p.Ser354Thr)
c.1058G>C (p.Ser353Thr)
c.1121G>C (p.Ser374Thr)
n.70G>C
c.110G>C (p.Ser37Thr)
c.1055G>C (p.Ser352Thr)
c.1007G>C (p.Ser336Thr)
n.438G>C
n.356G>C
c.47G>C (p.Ser16Thr)
c.-83G>C (n.-83G>C)
7g.44145692C>TCA367399213GCKc.*1056G>A (n.*1056G>A)
c.*178G>A (n.*178G>A)
n.284G>A
c.92G>A (p.Ser31Asn)
c.1061G>A (p.Ser354Asn)
c.1058G>A (p.Ser353Asn)
c.1121G>A (p.Ser374Asn)
n.70G>A
c.110G>A (p.Ser37Asn)
c.1055G>A (p.Ser352Asn)
c.1007G>A (p.Ser336Asn)
n.438G>A
n.356G>A
c.47G>A (p.Ser16Asn)
c.-83G>A (n.-83G>A)
gnomAD v4
7g.44145693T>ACA367399219GCKc.*1055A>T (n.*1055A>T)
c.*177A>T (n.*177A>T)
n.283A>T
c.91A>T (p.Ser31Cys)
c.1060A>T (p.Ser354Cys)
c.1057A>T (p.Ser353Cys)
c.1120A>T (p.Ser374Cys)
n.69A>T
c.109A>T (p.Ser37Cys)
c.1054A>T (p.Ser352Cys)
c.1006A>T (p.Ser336Cys)
n.437A>T
n.355A>T
c.46A>T (p.Ser16Cys)
c.-84A>T (n.-84A>T)
7g.44145693T>CCA367399222GCKc.*1055A>G (n.*1055A>G)
c.*177A>G (n.*177A>G)
n.283A>G
c.91A>G (p.Ser31Gly)
c.1060A>G (p.Ser354Gly)
c.1057A>G (p.Ser353Gly)
c.1120A>G (p.Ser374Gly)
n.69A>G
c.109A>G (p.Ser37Gly)
c.1054A>G (p.Ser352Gly)
c.1006A>G (p.Ser336Gly)
n.437A>G
n.355A>G
c.46A>G (p.Ser16Gly)
c.-84A>G (n.-84A>G)
7g.44145693T>GCA367399220GCKc.*1055A>C (n.*1055A>C)
c.*177A>C (n.*177A>C)
n.283A>C
c.91A>C (p.Ser31Arg)
c.1060A>C (p.Ser354Arg)
c.1057A>C (p.Ser353Arg)
c.1120A>C (p.Ser374Arg)
n.69A>C
c.109A>C (p.Ser37Arg)
c.1054A>C (p.Ser352Arg)
c.1006A>C (p.Ser336Arg)
n.437A>C
n.355A>C
c.46A>C (p.Ser16Arg)
c.-84A>C (n.-84A>C)
7g.44145694C>ACA454863085GCKc.*1054G>T (n.*1054G>T)
c.*176G>T (n.*176G>T)
n.282G>T
c.90G>T (p.Leu30=)
c.1059G>T (p.Leu353=)
c.1056G>T (p.Leu352=)
c.1119G>T (p.Leu373=)
n.68G>T
c.108G>T (p.Leu36=)
c.1053G>T (p.Leu351=)
c.1005G>T (p.Leu335=)
n.436G>T
n.354G>T
c.45G>T (p.Leu15=)
c.-85G>T (n.-85G>T)
gnomAD v4
7g.44145694C=CA1703612959GCKc.*1054G= (n.*1054G=)
c.*176G= (n.*176G=)
n.282G=
c.90G= (p.Leu30=)
c.1059G= (p.Leu353=)
c.1056G= (p.Leu352=)
c.1119G= (p.Leu373=)
n.68G=
c.108G= (p.Leu36=)
c.1053G= (p.Leu351=)
c.1005G= (p.Leu335=)
n.436G=
n.354G=
c.45G= (p.Leu15=)
c.-85G= (n.-85G=)
7g.44145694C>GCA454863087GCKc.*1054G>C (n.*1054G>C)
c.*176G>C (n.*176G>C)
n.282G>C
c.90G>C (p.Leu30=)
c.1059G>C (p.Leu353=)
c.1056G>C (p.Leu352=)
c.1119G>C (p.Leu373=)
n.68G>C
c.108G>C (p.Leu36=)
c.1053G>C (p.Leu351=)
c.1005G>C (p.Leu335=)
n.436G>C
n.354G>C
c.45G>C (p.Leu15=)
c.-85G>C (n.-85G>C)
gnomAD v4
7g.44145694C>TCA454863086GCKc.*1054G>A (n.*1054G>A)
c.*176G>A (n.*176G>A)
n.282G>A
c.90G>A (p.Leu30=)
c.1059G>A (p.Leu353=)
c.1056G>A (p.Leu352=)
c.1119G>A (p.Leu373=)
n.68G>A
c.108G>A (p.Leu36=)
c.1053G>A (p.Leu351=)
c.1005G>A (p.Leu335=)
n.436G>A
n.354G>A
c.45G>A (p.Leu15=)
c.-85G>A (n.-85G>A)
dbSNP gnomAD v2 gnomAD v4
7g.44145695A>CCA367399229GCKc.*1053T>G (n.*1053T>G)
c.*175T>G (n.*175T>G)
n.281T>G
c.89T>G (p.Leu30Arg)
c.1058T>G (p.Leu353Arg)
c.1055T>G (p.Leu352Arg)
c.1118T>G (p.Leu373Arg)
n.67T>G
c.107T>G (p.Leu36Arg)
c.1052T>G (p.Leu351Arg)
c.1004T>G (p.Leu335Arg)
n.435T>G
n.353T>G
c.44T>G (p.Leu15Arg)
c.-86T>G (n.-86T>G)
7g.44145695A>GCA367399230GCKc.*1053T>C (n.*1053T>C)
c.*175T>C (n.*175T>C)
n.281T>C
c.89T>C (p.Leu30Pro)
c.1058T>C (p.Leu353Pro)
c.1055T>C (p.Leu352Pro)
c.1118T>C (p.Leu373Pro)
n.67T>C
c.107T>C (p.Leu36Pro)
c.1052T>C (p.Leu351Pro)
c.1004T>C (p.Leu335Pro)
n.435T>C
n.353T>C
c.44T>C (p.Leu15Pro)
c.-86T>C (n.-86T>C)
gnomAD v4
7g.44145695A>TCA367399232GCKc.*1053T>A (n.*1053T>A)
c.*175T>A (n.*175T>A)
n.281T>A
c.89T>A (p.Leu30Gln)
c.1058T>A (p.Leu353Gln)
c.1055T>A (p.Leu352Gln)
c.1118T>A (p.Leu373Gln)
n.67T>A
c.107T>A (p.Leu36Gln)
c.1052T>A (p.Leu351Gln)
c.1004T>A (p.Leu335Gln)
n.435T>A
n.353T>A
c.44T>A (p.Leu15Gln)
c.-86T>A (n.-86T>A)
7g.44145695_44145696delinsAGCA1703612960GCKc.*1052_*1053delinsCT (n.*1052_*1053delinsCT)
c.*174_*175delinsCT (n.*174_*175delinsCT)
n.280_281delinsCT
c.88_89delinsCT (p.Leu30=)
c.1057_1058delinsCT (p.Leu353=)
c.1054_1055delinsCT (p.Leu352=)
c.1117_1118delinsCT (p.Leu373=)
n.66_67delinsCT
c.106_107delinsCT (p.Leu36=)
c.1051_1052delinsCT (p.Leu351=)
c.1003_1004delinsCT (p.Leu335=)
n.434_435delinsCT
n.352_353delinsCT
c.43_44delinsCT (p.Leu15=)
c.-87_-86delinsCT (n.-87_-86delinsCT)
7g.44145696G>ACA454863092GCKc.*1052C>T (n.*1052C>T)
c.*174C>T (n.*174C>T)
n.280C>T
c.88C>T (p.Leu30=)
c.1057C>T (p.Leu353=)
c.1054C>T (p.Leu352=)
c.1117C>T (p.Leu373=)
n.66C>T
c.106C>T (p.Leu36=)
c.1051C>T (p.Leu351=)
c.1003C>T (p.Leu335=)
n.434C>T
n.352C>T
c.43C>T (p.Leu15=)
c.-87C>T (n.-87C>T)
7g.44145696G>CCA367399235GCKc.*1052C>G (n.*1052C>G)
c.*174C>G (n.*174C>G)
n.280C>G
c.88C>G (p.Leu30Val)
c.1057C>G (p.Leu353Val)
c.1054C>G (p.Leu352Val)
c.1117C>G (p.Leu373Val)
n.66C>G
c.106C>G (p.Leu36Val)
c.1051C>G (p.Leu351Val)
c.1003C>G (p.Leu335Val)
n.434C>G
n.352C>G
c.43C>G (p.Leu15Val)
c.-87C>G (n.-87C>G)
7g.44145696G>TCA367399237GCKc.*1052C>A (n.*1052C>A)
c.*174C>A (n.*174C>A)
n.280C>A
c.88C>A (p.Leu30Met)
c.1057C>A (p.Leu353Met)
c.1054C>A (p.Leu352Met)
c.1117C>A (p.Leu373Met)
n.66C>A
c.106C>A (p.Leu36Met)
c.1051C>A (p.Leu351Met)
c.1003C>A (p.Leu335Met)
n.434C>A
n.352C>A
c.43C>A (p.Leu15Met)
c.-87C>A (n.-87C>A)
gnomAD v4
7g.44145697delCA891843077GCKc.*1052del (n.*1052del)
c.*174del (n.*174del)
n.280del
c.88del (p.Leu30Ter)
c.1057del (p.Leu353Ter)
c.1054del (p.Leu352Ter)
c.1117del (p.Leu373Ter)
n.66del
c.106del (p.Leu36Ter)
c.1051del (p.Leu351Ter)
c.1003del (p.Leu335Ter)
n.434del
n.352del
c.43del (p.Leu15Ter)
c.-87del (n.-87del)
ClinVar dbSNP
7g.44145697G>ACA454863095GCKc.*1051C>T (n.*1051C>T)
c.*173C>T (n.*173C>T)
n.279C>T
c.87C>T (p.Ile29=)
c.1056C>T (p.Ile352=)
c.1053C>T (p.Ile351=)
c.1116C>T (p.Ile372=)
n.65C>T
c.105C>T (p.Ile35=)
c.1050C>T (p.Ile350=)
c.1002C>T (p.Ile334=)
n.433C>T
n.351C>T
c.42C>T (p.Ile14=)
c.-88C>T (n.-88C>T)
gnomAD v4
7g.44145697G>CCA367399240GCKc.*1051C>G (n.*1051C>G)
c.*173C>G (n.*173C>G)
n.279C>G
c.87C>G (p.Ile29Met)
c.1056C>G (p.Ile352Met)
c.1053C>G (p.Ile351Met)
c.1116C>G (p.Ile372Met)
n.65C>G
c.105C>G (p.Ile35Met)
c.1050C>G (p.Ile350Met)
c.1002C>G (p.Ile334Met)
n.433C>G
n.351C>G
c.42C>G (p.Ile14Met)
c.-88C>G (n.-88C>G)
7g.44145697G>TCA454863096GCKc.*1051C>A (n.*1051C>A)
c.*173C>A (n.*173C>A)
n.279C>A
c.87C>A (p.Ile29=)
c.1056C>A (p.Ile352=)
c.1053C>A (p.Ile351=)
c.1116C>A (p.Ile372=)
n.65C>A
c.105C>A (p.Ile35=)
c.1050C>A (p.Ile350=)
c.1002C>A (p.Ile334=)
n.433C>A
n.351C>A
c.42C>A (p.Ile14=)
c.-88C>A (n.-88C>A)
gnomAD v4
7g.44145698A>CCA367399243GCKc.*1050T>G (n.*1050T>G)
c.*172T>G (n.*172T>G)
n.278T>G
c.86T>G (p.Ile29Ser)
c.1055T>G (p.Ile352Ser)
c.1052T>G (p.Ile351Ser)
c.1115T>G (p.Ile372Ser)
n.64T>G
c.104T>G (p.Ile35Ser)
c.1049T>G (p.Ile350Ser)
c.1001T>G (p.Ile334Ser)
n.432T>G
n.350T>G
c.41T>G (p.Ile14Ser)
c.-89T>G (n.-89T>G)
7g.44145698A>GCA367399245GCKc.*1050T>C (n.*1050T>C)
c.*172T>C (n.*172T>C)
n.278T>C
c.86T>C (p.Ile29Thr)
c.1055T>C (p.Ile352Thr)
c.1052T>C (p.Ile351Thr)
c.1115T>C (p.Ile372Thr)
n.64T>C
c.104T>C (p.Ile35Thr)
c.1049T>C (p.Ile350Thr)
c.1001T>C (p.Ile334Thr)
n.432T>C
n.350T>C
c.41T>C (p.Ile14Thr)
c.-89T>C (n.-89T>C)
7g.44145698A>TCA367399247GCKc.*1050T>A (n.*1050T>A)
c.*172T>A (n.*172T>A)
n.278T>A
c.86T>A (p.Ile29Asn)
c.1055T>A (p.Ile352Asn)
c.1052T>A (p.Ile351Asn)
c.1115T>A (p.Ile372Asn)
n.64T>A
c.104T>A (p.Ile35Asn)
c.1049T>A (p.Ile350Asn)
c.1001T>A (p.Ile334Asn)
n.432T>A
n.350T>A
c.41T>A (p.Ile14Asn)
c.-89T>A (n.-89T>A)
7g.44145699T>ACA367399249GCKc.*1049A>T (n.*1049A>T)
c.*171A>T (n.*171A>T)
n.277A>T
c.85A>T (p.Ile29Phe)
c.1054A>T (p.Ile352Phe)
c.1051A>T (p.Ile351Phe)
c.1114A>T (p.Ile372Phe)
n.63A>T
c.103A>T (p.Ile35Phe)
c.1048A>T (p.Ile350Phe)
c.1000A>T (p.Ile334Phe)
n.431A>T
n.349A>T
c.40A>T (p.Ile14Phe)
c.-90A>T (n.-90A>T)
7g.44145699T>CCA367399251GCKc.*1049A>G (n.*1049A>G)
c.*171A>G (n.*171A>G)
n.277A>G
c.85A>G (p.Ile29Val)
c.1054A>G (p.Ile352Val)
c.1051A>G (p.Ile351Val)
c.1114A>G (p.Ile372Val)
n.63A>G
c.103A>G (p.Ile35Val)
c.1048A>G (p.Ile350Val)
c.1000A>G (p.Ile334Val)
n.431A>G
n.349A>G
c.40A>G (p.Ile14Val)
c.-90A>G (n.-90A>G)
7g.44145699T>GCA367399253GCKc.*1049A>C (n.*1049A>C)
c.*171A>C (n.*171A>C)
n.277A>C
c.85A>C (p.Ile29Leu)
c.1054A>C (p.Ile352Leu)
c.1051A>C (p.Ile351Leu)
c.1114A>C (p.Ile372Leu)
n.63A>C
c.103A>C (p.Ile35Leu)
c.1048A>C (p.Ile350Leu)
c.1000A>C (p.Ile334Leu)
n.431A>C
n.349A>C
c.40A>C (p.Ile14Leu)
c.-90A>C (n.-90A>C)
7g.44145700G>ACA454863098GCKc.*1048C>T (n.*1048C>T)
c.*170C>T (n.*170C>T)
n.276C>T
c.84C>T (p.Asn28=)
c.1053C>T (p.Asn351=)
c.1050C>T (p.Asn350=)
c.1113C>T (p.Asn371=)
n.62C>T
c.102C>T (p.Asn34=)
c.1047C>T (p.Asn349=)
c.999C>T (p.Asn333=)
n.430C>T
n.348C>T
c.39C>T (p.Asn13=)
c.-91C>T (n.-91C>T)
dbSNP gnomAD v4
7g.44145700G>CCA367399254GCKc.*1048C>G (n.*1048C>G)
c.*170C>G (n.*170C>G)
n.276C>G
c.84C>G (p.Asn28Lys)
c.1053C>G (p.Asn351Lys)
c.1050C>G (p.Asn350Lys)
c.1113C>G (p.Asn371Lys)
n.62C>G
c.102C>G (p.Asn34Lys)
c.1047C>G (p.Asn349Lys)
c.999C>G (p.Asn333Lys)
n.430C>G
n.348C>G
c.39C>G (p.Asn13Lys)
c.-91C>G (n.-91C>G)
7g.44145700G=CA1703612961GCKc.*1048C= (n.*1048C=)
c.*170C= (n.*170C=)
n.276C=
c.84C= (p.Asn28=)
c.1053C= (p.Asn351=)
c.1050C= (p.Asn350=)
c.1113C= (p.Asn371=)
n.62C=
c.102C= (p.Asn34=)
c.1047C= (p.Asn349=)
c.999C= (p.Asn333=)
n.430C=
n.348C=
c.39C= (p.Asn13=)
c.-91C= (n.-91C=)
7g.44145700G>TCA367399256GCKc.*1048C>A (n.*1048C>A)
c.*170C>A (n.*170C>A)
n.276C>A
c.84C>A (p.Asn28Lys)
c.1053C>A (p.Asn351Lys)
c.1050C>A (p.Asn350Lys)
c.1113C>A (p.Asn371Lys)
n.62C>A
c.102C>A (p.Asn34Lys)
c.1047C>A (p.Asn349Lys)
c.999C>A (p.Asn333Lys)
n.430C>A
n.348C>A
c.39C>A (p.Asn13Lys)
c.-91C>A (n.-91C>A)
gnomAD v4
7g.44145701T>ACA367399258GCKc.*1047A>T (n.*1047A>T)
c.*169A>T (n.*169A>T)
n.275A>T
c.83A>T (p.Asn28Ile)
c.1052A>T (p.Asn351Ile)
c.1049A>T (p.Asn350Ile)
c.1112A>T (p.Asn371Ile)
n.61A>T
c.101A>T (p.Asn34Ile)
c.1046A>T (p.Asn349Ile)
c.998A>T (p.Asn333Ile)
n.429A>T
n.347A>T
c.38A>T (p.Asn13Ile)
c.-92A>T (n.-92A>T)
7g.44145701T>CCA367399260GCKc.*1047A>G (n.*1047A>G)
c.*169A>G (n.*169A>G)
n.275A>G
c.83A>G (p.Asn28Ser)
c.1052A>G (p.Asn351Ser)
c.1049A>G (p.Asn350Ser)
c.1112A>G (p.Asn371Ser)
n.61A>G
c.101A>G (p.Asn34Ser)
c.1046A>G (p.Asn349Ser)
c.998A>G (p.Asn333Ser)
n.429A>G
n.347A>G
c.38A>G (p.Asn13Ser)
c.-92A>G (n.-92A>G)
7g.44145701T>GCA367399262GCKc.*1047A>C (n.*1047A>C)
c.*169A>C (n.*169A>C)
n.275A>C
c.83A>C (p.Asn28Thr)
c.1052A>C (p.Asn351Thr)
c.1049A>C (p.Asn350Thr)
c.1112A>C (p.Asn371Thr)
n.61A>C
c.101A>C (p.Asn34Thr)
c.1046A>C (p.Asn349Thr)
c.998A>C (p.Asn333Thr)
n.429A>C
n.347A>C
c.38A>C (p.Asn13Thr)
c.-92A>C (n.-92A>C)
dbSNP gnomAD v2 gnomAD v4
7g.44145701T=CA1703612962GCKc.*1047A= (n.*1047A=)
c.*169A= (n.*169A=)
n.275A=
c.83A= (p.Asn28=)
c.1052A= (p.Asn351=)
c.1049A= (p.Asn350=)
c.1112A= (p.Asn371=)
n.61A=
c.101A= (p.Asn34=)
c.1046A= (p.Asn349=)
c.998A= (p.Asn333=)
n.429A=
n.347A=
c.38A= (p.Asn13=)
c.-92A= (n.-92A=)

Number of alleles fetched