Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102843549_102843732dupCA3265460482PAHc.1113_1199+97dup
c.1098_1184+97dup
n.872_958+97dup
n.775_861+97dup
c.217_303+97dup
n.628_714+97dup
c.1056_1142+97dup
12g.102843677_102843678delCA16020956PAHc.1171_1172del (p.Ser391PhefsTer2)
c.1156_1157del (p.Ser386PhefsTer2)
n.930_931del
n.833_834del
c.275_276del
n.686_687del
c.1114_1115del (p.Ser372PhefsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102843674_102843676delinsCCCCA2695217223PAHc.1169_1171delinsGGG (p.Glu390_Ser391delinsGlyGly)
c.1154_1156delinsGGG (p.Glu385_Ser386delinsGlyGly)
n.928_930delinsGGG
n.831_833delinsGGG
c.273_275delinsGGG
n.684_686delinsGGG
c.1112_1114delinsGGG (p.Glu371_Ser372delinsGlyGly)
12g.102843676T>ACA386493181PAHc.1169A>T (p.Glu390Val)
c.1154A>T (p.Glu385Val)
n.928A>T
n.831A>T
c.273A>T
n.684A>T
c.1112A>T (p.Glu371Val)
12g.102843676T>CCA114367PAHc.1169A>G (p.Glu390Gly)
c.1154A>G (p.Glu385Gly)
n.928A>G
n.831A>G
c.273A>G
n.684A>G
c.1112A>G (p.Glu371Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102843676T>GCA386493182PAHc.1169A>C (p.Glu390Ala)
c.1154A>C (p.Glu385Ala)
n.928A>C
n.831A>C
c.273A>C
n.684A>C
c.1112A>C (p.Glu371Ala)
12g.102843676T=CA2059446435PAHc.1169A= (p.Glu390=)
c.1154A= (p.Glu385=)
n.928A=
n.831A=
c.273A=
n.684A=
c.1112A= (p.Glu371=)
 dbSNP
12g.102843677C>ACA386493183PAHc.1168G>T (p.Glu390Ter)
c.1153G>T (p.Glu385Ter)
n.927G>T
n.830G>T
c.272G>T
n.683G>T
c.1111G>T (p.Glu371Ter)
 gnomAD v4
12g.102843677C=CA3197744149PAHc.1168G= (p.Glu390=)
c.1153G= (p.Glu385=)
n.927G=
n.830G=
c.272G=
n.683G=
c.1111G= (p.Glu371=)
 dbSNP
12g.102843677C>GCA386493184PAHc.1168G>C (p.Glu390Gln)
c.1153G>C (p.Glu385Gln)
n.927G>C
n.830G>C
c.272G>C
n.683G>C
c.1111G>C (p.Glu371Gln)
 dbSNP gnomAD v4
12g.102843677C>TCA386493185PAHc.1168G>A (p.Glu390Lys)
c.1153G>A (p.Glu385Lys)
n.927G>A
n.830G>A
c.272G>A
n.683G>A
c.1111G>A (p.Glu371Lys)
12g.102843677dupCA2838199305PAHc.1168dup (p.Glu390GlyfsTer4)
c.1153dup (p.Glu385GlyfsTer4)
n.927dup
n.830dup
c.272dup
n.683dup
c.1111dup (p.Glu371GlyfsTer4)
12g.102843678T>ACA481375623PAHc.1167A>T (p.Ala389=)
c.1152A>T (p.Ala384=)
n.926A>T
n.829A>T
c.271A>T
n.682A>T
c.1110A>T (p.Ala370=)
12g.102843678T>CCA481375624PAHc.1167A>G (p.Ala389=)
c.1152A>G (p.Ala384=)
n.926A>G
n.829A>G
c.271A>G
n.682A>G
c.1110A>G (p.Ala370=)
 ClinVar dbSNP
12g.102843678T>GCA481375625PAHc.1167A>C (p.Ala389=)
c.1152A>C (p.Ala384=)
n.926A>C
n.829A>C
c.271A>C
n.682A>C
c.1110A>C (p.Ala370=)
12g.102843678T=CA3194748088PAHc.1167A= (p.Ala389=)
c.1152A= (p.Ala384=)
n.926A=
n.829A=
c.271A=
n.682A=
c.1110A= (p.Ala370=)
 dbSNP
12g.102843678_102843679delinsTGCA2059446440PAHc.1166_1167delinsCA (p.Ala389=)
c.1151_1152delinsCA (p.Ala384=)
n.925_926delinsCA
n.828_829delinsCA
c.270_271delinsCA
n.681_682delinsCA
c.1109_1110delinsCA (p.Ala370=)
12g.102843679_102843688delCA3054215012PAHc.1158_1167del (p.Tyr386Ter)
c.1143_1152del (p.Tyr381Ter)
n.917_926del
n.820_829del
c.262_271del
n.673_682del
c.1101_1110del (p.Tyr367Ter)
 ClinVar
12g.102843679delCA229368PAHc.1166del (p.Ala389GlufsTer11)
c.1151del (p.Ala384GlufsTer11)
n.925del
n.828del
c.270del
n.681del
c.1109del (p.Ala370GlufsTer11)
 ClinVar dbSNP
12g.102843679G>ACA386493186PAHc.1166C>T (p.Ala389Val)
c.1151C>T (p.Ala384Val)
n.925C>T
n.828C>T
c.270C>T
n.681C>T
c.1109C>T (p.Ala370Val)
12g.102843679G>CCA16020955PAHc.1166C>G (p.Ala389Gly)
c.1151C>G (p.Ala384Gly)
n.925C>G
n.828C>G
c.270C>G
n.681C>G
c.1109C>G (p.Ala370Gly)
 ClinVar dbSNP
12g.102843679G=CA2059446447PAHc.1166C= (p.Ala389=)
c.1151C= (p.Ala384=)
n.925C=
n.828C=
c.270C=
n.681C=
c.1109C= (p.Ala370=)
 dbSNP dbSNP
12g.102843679G>TCA16020954PAHc.1166C>A (p.Ala389Glu)
c.1151C>A (p.Ala384Glu)
n.925C>A
n.828C>A
c.270C>A
n.681C>A
c.1109C>A (p.Ala370Glu)
 ClinVar dbSNP
12g.102843680C>ACA386493187PAHc.1165G>T (p.Ala389Ser)
c.1150G>T (p.Ala384Ser)
n.924G>T
n.827G>T
c.269G>T
n.680G>T
c.1108G>T (p.Ala370Ser)
12g.102843680C=CA3197744152PAHc.1165G= (p.Ala389=)
c.1150G= (p.Ala384=)
n.924G=
n.827G=
c.269G=
n.680G=
c.1108G= (p.Ala370=)
 dbSNP
12g.102843680C>GCA386493188PAHc.1165G>C (p.Ala389Pro)
c.1150G>C (p.Ala384Pro)
n.924G>C
n.827G>C
c.269G>C
n.680G>C
c.1108G>C (p.Ala370Pro)
12g.102843680C>TCA386493189PAHc.1165G>A (p.Ala389Thr)
c.1150G>A (p.Ala384Thr)
n.924G>A
n.827G>A
c.269G>A
n.680G>A
c.1108G>A (p.Ala370Thr)
 dbSNP gnomAD v4
12g.102843681dupCA2843248088PAHc.1165dup (p.Ala389GlyfsTer5)
c.1150dup (p.Ala384GlyfsTer5)
n.924dup
n.827dup
c.269dup
n.680dup
c.1108dup (p.Ala370GlyfsTer5)
12g.102843680_102843682delinsCCACA2059446455PAHc.1163_1165delinsTGG (p.Val388=)
c.1148_1150delinsTGG (p.Val383=)
n.922_924delinsTGG
n.825_827delinsTGG
c.267_269delinsTGG
n.678_680delinsTGG
c.1106_1108delinsTGG (p.Val369=)
12g.102843681C>ACA481375627PAHc.1164G>T (p.Val388=)
c.1149G>T (p.Val383=)
n.923G>T
n.826G>T
c.268G>T
n.679G>T
c.1107G>T (p.Val369=)
12g.102843681C=CA3197744156PAHc.1164G= (p.Val388=)
c.1149G= (p.Val383=)
n.923G=
n.826G=
c.268G=
n.679G=
c.1107G= (p.Val369=)
 dbSNP
12g.102843681C>GCA481375628PAHc.1164G>C (p.Val388=)
c.1149G>C (p.Val383=)
n.923G>C
n.826G>C
c.268G>C
n.679G>C
c.1107G>C (p.Val369=)
 ClinVar dbSNP gnomAD v4
12g.102843681C>TCA481375629PAHc.1164G>A (p.Val388=)
c.1149G>A (p.Val383=)
n.923G>A
n.826G>A
c.268G>A
n.679G>A
c.1107G>A (p.Val369=)
 COSMIC
12g.102843682_102843683delCA229367PAHc.1163_1164del (p.Val388GlyfsTer5)
c.1148_1149del (p.Val383GlyfsTer5)
n.922_923del
n.825_826del
c.267_268del
n.678_679del
c.1106_1107del (p.Val369GlyfsTer5)
 ClinVar dbSNP
12g.102843682A=CA2059446462PAHc.1163T= (p.Val388=)
c.1148T= (p.Val383=)
n.922T=
n.825T=
c.267T=
n.678T=
c.1106T= (p.Val369=)
 dbSNP
12g.102843682A>CCA386493190PAHc.1163T>G (p.Val388Gly)
c.1148T>G (p.Val383Gly)
n.922T>G
n.825T>G
c.267T>G
n.678T>G
c.1106T>G (p.Val369Gly)
12g.102843682A>GCA267628PAHc.1163T>C (p.Val388Ala)
c.1148T>C (p.Val383Ala)
n.922T>C
n.825T>C
c.267T>C
n.678T>C
c.1106T>C (p.Val369Ala)
 ClinVar dbSNP gnomAD v4
12g.102843682A>TCA386493191PAHc.1163T>A (p.Val388Glu)
c.1148T>A (p.Val383Glu)
n.922T>A
n.825T>A
c.267T>A
n.678T>A
c.1106T>A (p.Val369Glu)
 dbSNP
12g.102843683C>ACA386493192PAHc.1162G>T (p.Val388Leu)
c.1147G>T (p.Val383Leu)
n.921G>T
n.824G>T
c.266G>T
n.677G>T
c.1105G>T (p.Val369Leu)
12g.102843683C=CA2059446474PAHc.1162G= (p.Val388=)
c.1147G= (p.Val383=)
n.921G=
n.824G=
c.266G=
n.677G=
c.1105G= (p.Val369=)
 dbSNP
12g.102843683C>GCA229366PAHc.1162G>C (p.Val388Leu)
c.1147G>C (p.Val383Leu)
n.921G>C
n.824G>C
c.266G>C
n.677G>C
c.1105G>C (p.Val369Leu)
 ClinVar dbSNP
12g.102843683C>TCA251543PAHc.1162G>A (p.Val388Met)
c.1147G>A (p.Val383Met)
n.921G>A
n.824G>A
c.266G>A
n.677G>A
c.1105G>A (p.Val369Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102843684G>ACA6748733PAHc.1161C>T (p.Tyr387=)
c.1146C>T (p.Tyr382=)
n.920C>T
n.823C>T
c.265C>T
n.676C>T
c.1104C>T (p.Tyr368=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102843684G>CCA386493193PAHc.1161C>G (p.Tyr387Ter)
c.1146C>G (p.Tyr382Ter)
n.920C>G
n.823C>G
c.265C>G
n.676C>G
c.1104C>G (p.Tyr368Ter)
 ClinVar dbSNP
12g.102843684G=CA2059446488PAHc.1161C= (p.Tyr387=)
c.1146C= (p.Tyr382=)
n.920C=
n.823C=
c.265C=
n.676C=
c.1104C= (p.Tyr368=)
 dbSNP
12g.102843684G>TCA16020953PAHc.1161C>A (p.Tyr387Ter)
c.1146C>A (p.Tyr382Ter)
n.920C>A
n.823C>A
c.265C>A
n.676C>A
c.1104C>A (p.Tyr368Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102843685T>ACA386493196PAHc.1160A>T (p.Tyr387Phe)
c.1145A>T (p.Tyr382Phe)
n.919A>T
n.822A>T
c.264A>T
n.675A>T
c.1103A>T (p.Tyr368Phe)
12g.102843685T>CCA386493194PAHc.1160A>G (p.Tyr387Cys)
c.1145A>G (p.Tyr382Cys)
n.919A>G
n.822A>G
c.264A>G
n.675A>G
c.1103A>G (p.Tyr368Cys)
12g.102843685T>GCA386493195PAHc.1160A>C (p.Tyr387Ser)
c.1145A>C (p.Tyr382Ser)
n.919A>C
n.822A>C
c.264A>C
n.675A>C
c.1103A>C (p.Tyr368Ser)
12g.102843686A=CA2059446498PAHc.1159T= (p.Tyr387=)
c.1144T= (p.Tyr382=)
n.918T=
n.821T=
c.263T=
n.674T=
c.1102T= (p.Tyr368=)
 dbSNP

Number of alleles fetched