1 | g.215675520T>A | CA344851054 | USH2A | c.12391A>T (p.Thr4131Ser)
| |
1 | g.215675520T>C | CA344851055 | USH2A | c.12391A>G (p.Thr4131Ala)
| |
1 | g.215675520T>G | CA344851056 | USH2A | c.12391A>C (p.Thr4131Pro)
| |
1 | g.215675521C>A | CA423311742 | USH2A | c.12390G>T (p.Leu4130=)
| |
1 | g.215675521C>G | CA423311740 | USH2A | c.12390G>C (p.Leu4130=)
| |
1 | g.215675521C>T | CA423311738 | USH2A | c.12390G>A (p.Leu4130=)
| |
1 | g.215675522A= | CA1220373963 | USH2A | c.12389T= (p.Leu4130=)
| |
1 | g.215675522A>C | CA344851059 | USH2A | c.12389T>G (p.Leu4130Arg)
| |
1 | g.215675522A>G | CA344851062 | USH2A | c.12389T>C (p.Leu4130Pro)
| |
1 | g.215675522A>T | CA344851060 | USH2A | c.12389T>A (p.Leu4130Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675523del | CA2586968187 | USH2A | c.12388del (p.Leu4130Ter)
| |
1 | g.215675523G>A | CA423311748 | USH2A | c.12388C>T (p.Leu4130=)
| |
1 | g.215675523G>C | CA344851063 | USH2A | c.12388C>G (p.Leu4130Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675523G= | CA1220373964 | USH2A | c.12388C= (p.Leu4130=)
| |
1 | g.215675523G>T | CA344851064 | USH2A | c.12388C>A (p.Leu4130Met)
| |
1 | g.215675524T>A | CA1393477 | USH2A | c.12387A>T (p.Thr4129=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675524T>C | CA423311758 | USH2A | c.12387A>G (p.Thr4129=)
| |
1 | g.215675524T>G | CA423311755 | USH2A | c.12387A>C (p.Thr4129=)
| |
1 | g.215675524T= | CA1149112130 | USH2A | c.12387A= (p.Thr4129=)
| |
1 | g.215675525G>A | CA344851065 | USH2A | c.12386C>T (p.Thr4129Ile)
| gnomAD v4 |
1 | g.215675525G>C | CA344851066 | USH2A | c.12386C>G (p.Thr4129Arg)
| |
1 | g.215675525G>T | CA344851068 | USH2A | c.12386C>A (p.Thr4129Lys)
| |
1 | g.215675526T>A | CA344851070 | USH2A | c.12385A>T (p.Thr4129Ser)
| |
1 | g.215675526T>C | CA344851072 | USH2A | c.12385A>G (p.Thr4129Ala)
| dbSNP |
1 | g.215675526T>G | CA344851073 | USH2A | c.12385A>C (p.Thr4129Pro)
| gnomAD v4 |
1 | g.215675526T= | CA1220373965 | USH2A | c.12385A= (p.Thr4129=)
| |
1 | g.215675527G>A | CA37413190 | USH2A | c.12384C>T (p.Tyr4128=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675527G>C | CA344851075 | USH2A | c.12384C>G (p.Tyr4128Ter)
| |
1 | g.215675527G= | CA1220373966 | USH2A | c.12384C= (p.Tyr4128=)
| |
1 | g.215675527G>T | CA344851077 | USH2A | c.12384C>A (p.Tyr4128Ter)
| gnomAD v4 |
1 | g.215675528T>A | CA344851082 | USH2A | c.12383A>T (p.Tyr4128Phe)
| |
1 | g.215675528T>C | CA344851081 | USH2A | c.12383A>G (p.Tyr4128Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675528T>G | CA344851079 | USH2A | c.12383A>C (p.Tyr4128Ser)
| |
1 | g.215675529A>C | CA344851083 | USH2A | c.12382T>G (p.Tyr4128Asp)
| |
1 | g.215675529A>G | CA344851084 | USH2A | c.12382T>C (p.Tyr4128His)
| |
1 | g.215675529A>T | CA344851085 | USH2A | c.12382T>A (p.Tyr4128Asn)
| |
1 | g.215675533_215675534del | CA2580611240 | USH2A | c.12381_12382del (p.Tyr4128HisfsTer24)
| ClinVar dbSNP |
1 | g.215675530G>A | CA423311773 | USH2A | c.12381C>T (p.Leu4127=)
| |
1 | g.215675530G>C | CA423311775 | USH2A | c.12381C>G (p.Leu4127=)
| |
1 | g.215675530G>T | CA423311774 | USH2A | c.12381C>A (p.Leu4127=)
| |
1 | g.215675531A= | CA1220373967 | USH2A | c.12380T= (p.Leu4127=)
| |
1 | g.215675531A>C | CA344851087 | USH2A | c.12380T>G (p.Leu4127Arg)
| dbSNP gnomAD v4 |
1 | g.215675531A>G | CA344851089 | USH2A | c.12380T>C (p.Leu4127Pro)
| |
1 | g.215675531A>T | CA344851091 | USH2A | c.12380T>A (p.Leu4127His)
| |
1 | g.215675535_215675559dup | CA2650500678 | USH2A | c.12356_12380dup (p.Tyr4128ProfsTer33)
| gnomAD v4 |
1 | g.215675532G>A | CA344851092 | USH2A | c.12379C>T (p.Leu4127Phe)
| |
1 | g.215675532G>C | CA344851094 | USH2A | c.12379C>G (p.Leu4127Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675532G= | CA1220373968 | USH2A | c.12379C= (p.Leu4127=)
| |
1 | g.215675532G>T | CA344851096 | USH2A | c.12379C>A (p.Leu4127Ile)
| COSMIC COSMIC |
1 | g.215675533A= | CA1220373969 | USH2A | c.12378T= (p.Thr4126=)
| |
1 | g.215675533A>C | CA423311785 | USH2A | c.12378T>G (p.Thr4126=)
| ClinVar dbSNP |
1 | g.215675533A>G | CA423311786 | USH2A | c.12378T>C (p.Thr4126=)
| |
1 | g.215675533A>T | CA423311787 | USH2A | c.12378T>A (p.Thr4126=)
| |
1 | g.215675533_215675535delinsTTA | CA2586968189 | USH2A | c.12376_12378delinsTAA (p.Thr4126Ter)
| |
1 | g.215675534G>A | CA344851098 | USH2A | c.12377C>T (p.Thr4126Ile)
| |
1 | g.215675534G>C | CA344851099 | USH2A | c.12377C>G (p.Thr4126Ser)
| gnomAD v4 |
1 | g.215675534G= | CA1220373970 | USH2A | c.12377C= (p.Thr4126=)
| |
1 | g.215675534G>T | CA344851100 | USH2A | c.12377C>A (p.Thr4126Asn)
| |
1 | g.215675535T>A | CA344851102 | USH2A | c.12376A>T (p.Thr4126Ser)
| |
1 | g.215675535T>C | CA344851104 | USH2A | c.12376A>G (p.Thr4126Ala)
| gnomAD v4 |
1 | g.215675535T>G | CA344851103 | USH2A | c.12376A>C (p.Thr4126Pro)
| |
1 | g.215675535dup | CA731337622 | USH2A | c.12376dup (p.Thr4126AsnfsTer27)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675536G>A | CA423311790 | USH2A | c.12375C>T (p.Phe4125=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675536G>C | CA344851106 | USH2A | c.12375C>G (p.Phe4125Leu)
| |
1 | g.215675536G= | CA1220373972 | USH2A | c.12375C= (p.Phe4125=)
| |
1 | g.215675536G>T | CA344851107 | USH2A | c.12375C>A (p.Phe4125Leu)
| |
1 | g.215675536_215675537delinsGA | CA1220373971 | USH2A | c.12374_12375delinsTC (p.Phe4125=)
| |
1 | g.215675537A>C | CA344851109 | USH2A | c.12374T>G (p.Phe4125Cys)
| |
1 | g.215675537A>G | CA344851112 | USH2A | c.12374T>C (p.Phe4125Ser)
| |
1 | g.215675537A>T | CA344851110 | USH2A | c.12374T>A (p.Phe4125Tyr)
| |
1 | g.215675539del | CA529002115 | USH2A | c.12374del (p.Phe4125SerfsTer6)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675538A>C | CA344851114 | USH2A | c.12373T>G (p.Phe4125Val)
| |
1 | g.215675538A>G | CA344851117 | USH2A | c.12373T>C (p.Phe4125Leu)
| |
1 | g.215675538A>T | CA344851115 | USH2A | c.12373T>A (p.Phe4125Ile)
| |
1 | g.215675539A>C | CA423311805 | USH2A | c.12372T>G (p.Pro4124=)
| |
1 | g.215675539A>G | CA423311811 | USH2A | c.12372T>C (p.Pro4124=)
| |
1 | g.215675539A>T | CA423311813 | USH2A | c.12372T>A (p.Pro4124=)
| |
1 | g.215675539_215675540insAGCTT | CA2532804992 | USH2A | c.12371_12372insAAGCT (p.Phe4125SerfsTer8)
| |
1 | g.215675540G>A | CA1393478 | USH2A | c.12371C>T (p.Pro4124Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675540G>C | CA344851119 | USH2A | c.12371C>G (p.Pro4124Arg)
| |
1 | g.215675540G= | CA1220373973 | USH2A | c.12371C= (p.Pro4124=)
| |
1 | g.215675540G>T | CA344851120 | USH2A | c.12371C>A (p.Pro4124His)
| |
1 | g.215675541G>A | CA344851122 | USH2A | c.12370C>T (p.Pro4124Ser)
| |
1 | g.215675541G>C | CA344851123 | USH2A | c.12370C>G (p.Pro4124Ala)
| |
1 | g.215675541G>T | CA344851125 | USH2A | c.12370C>A (p.Pro4124Thr)
| |
1 | g.215675542A= | CA1220373974 | USH2A | c.12369T= (p.Asp4123=)
| |
1 | g.215675542A>C | CA344851126 | USH2A | c.12369T>G (p.Asp4123Glu)
| |
1 | g.215675542A>G | CA1393479 | USH2A | c.12369T>C (p.Asp4123=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675542A>T | CA344851128 | USH2A | c.12369T>A (p.Asp4123Glu)
| |
1 | g.215675543T>A | CA344851130 | USH2A | c.12368A>T (p.Asp4123Val)
| |
1 | g.215675543T>C | CA344851132 | USH2A | c.12368A>G (p.Asp4123Gly)
| gnomAD v4 |
1 | g.215675543T>G | CA344851134 | USH2A | c.12368A>C (p.Asp4123Ala)
| |
1 | g.215675544C>A | CA344851137 | USH2A | c.12367G>T (p.Asp4123Tyr)
| |
1 | g.215675544C= | CA1220373975 | USH2A | c.12367G= (p.Asp4123=)
| |
1 | g.215675544C>G | CA344851135 | USH2A | c.12367G>C (p.Asp4123His)
| dbSNP |
1 | g.215675544C>T | CA344851136 | USH2A | c.12367G>A (p.Asp4123Asn)
| |
1 | g.215675545C>A | CA423311822 | USH2A | c.12366G>T (p.Leu4122=)
| |
1 | g.215675545C>G | CA423311825 | USH2A | c.12366G>C (p.Leu4122=)
| |
1 | g.215675545C>T | CA423311824 | USH2A | c.12366G>A (p.Leu4122=)
| |
1 | g.215675546A>C | CA344851139 | USH2A | c.12365T>G (p.Leu4122Arg)
| |
1 | g.215675546A>G | CA344851141 | USH2A | c.12365T>C (p.Leu4122Pro)
| |
1 | g.215675546A>T | CA344851143 | USH2A | c.12365T>A (p.Leu4122Gln)
| |
1 | g.215675547G>A | CA423311831 | USH2A | c.12364C>T (p.Leu4122=)
| dbSNP gnomAD v4 |
1 | g.215675547G>C | CA344851144 | USH2A | c.12364C>G (p.Leu4122Val)
| |
1 | g.215675547G= | CA1220373976 | USH2A | c.12364C= (p.Leu4122=)
| |
1 | g.215675547G>T | CA344851145 | USH2A | c.12364C>A (p.Leu4122Met)
| dbSNP |
1 | g.215675548G>A | CA423311833 | USH2A | c.12363C>T (p.Arg4121=)
| |
1 | g.215675548G>C | CA423311834 | USH2A | c.12363C>G (p.Arg4121=)
| |
1 | g.215675548G>T | CA423311836 | USH2A | c.12363C>A (p.Arg4121=)
| |
1 | g.215675549C>A | CA344851147 | USH2A | c.12362G>T (p.Arg4121Leu)
| dbSNP |
1 | g.215675549C= | CA1144229172 | USH2A | c.12362G= (p.Arg4121=)
| |
1 | g.215675549C>G | CA344851149 | USH2A | c.12362G>C (p.Arg4121Pro)
| |
1 | g.215675549C>T | CA143288 | USH2A | c.12362G>A (p.Arg4121His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675550G>A | CA1393480 | USH2A | c.12361C>T (p.Arg4121Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215675550G>C | CA344851151 | USH2A | c.12361C>G (p.Arg4121Gly)
| |
1 | g.215675550G= | CA1220373977 | USH2A | c.12361C= (p.Arg4121=)
| |
1 | g.215675550G>T | CA37413212 | USH2A | c.12361C>A (p.Arg4121Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675550_215675551del | CA2747717664 | USH2A | c.12360_12361del (p.Arg4121ProfsTer?)
| |
1 | g.215675551G>A | CA1393481 | USH2A | c.12360C>T (p.Arg4120=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675551G>C | CA423311849 | USH2A | c.12360C>G (p.Arg4120=)
| |
1 | g.215675551G= | CA1220373978 | USH2A | c.12360C= (p.Arg4120=)
| |
1 | g.215675551G>T | CA423311843 | USH2A | c.12360C>A (p.Arg4120=)
| |
1 | g.215675552_215675553dup | CA731337656 | USH2A | c.12359_12360dup (p.Arg4121AlafsTer11)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675552C>A | CA344851156 | USH2A | c.12359G>T (p.Arg4120Leu)
| |
1 | g.215675552C= | CA1142963843 | USH2A | c.12359G= (p.Arg4120=)
| |
1 | g.215675552C>G | CA344851153 | USH2A | c.12359G>C (p.Arg4120Pro)
| |
1 | g.215675552C>T | CA1393482 | USH2A | c.12359G>A (p.Arg4120His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675553G>A | CA179517 | USH2A | c.12358C>T (p.Arg4120Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675553G>C | CA344851161 | USH2A | c.12358C>G (p.Arg4120Gly)
| |
1 | g.215675553G= | CA1148224965 | USH2A | c.12358C= (p.Arg4120=)
| |
1 | g.215675553G>T | CA344851162 | USH2A | c.12358C>A (p.Arg4120Ser)
| gnomAD v4 |
1 | g.215675554del | CA2747717665 | USH2A | c.12358del (p.Arg4120AlafsTer11)
| |
1 | g.215675554G>A | CA423311857 | USH2A | c.12357C>T (p.Phe4119=)
| ClinVar gnomAD v4 |
1 | g.215675554G>C | CA344851163 | USH2A | c.12357C>G (p.Phe4119Leu)
| |
1 | g.215675554G>T | CA344851164 | USH2A | c.12357C>A (p.Phe4119Leu)
| COSMIC COSMIC |
1 | g.215675555A= | CA1220373979 | USH2A | c.12356T= (p.Phe4119=)
| |
1 | g.215675555A>C | CA344851165 | USH2A | c.12356T>G (p.Phe4119Cys)
| |
1 | g.215675555A>G | CA1393483 | USH2A | c.12356T>C (p.Phe4119Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675555A>T | CA344851166 | USH2A | c.12356T>A (p.Phe4119Tyr)
| |
1 | g.215675556A>C | CA344851168 | USH2A | c.12355T>G (p.Phe4119Val)
| |
1 | g.215675556A>G | CA344851169 | USH2A | c.12355T>C (p.Phe4119Leu)
| |
1 | g.215675556A>T | CA344851170 | USH2A | c.12355T>A (p.Phe4119Ile)
| |
1 | g.215675557G>A | CA423311868 | USH2A | c.12354C>T (p.Leu4118=)
| |
1 | g.215675557G>C | CA423311870 | USH2A | c.12354C>G (p.Leu4118=)
| ClinVar dbSNP |
1 | g.215675557G>T | CA423311872 | USH2A | c.12354C>A (p.Leu4118=)
| |
1 | g.215675558A>C | CA344851172 | USH2A | c.12353T>G (p.Leu4118Arg)
| |
1 | g.215675558A>G | CA344851175 | USH2A | c.12353T>C (p.Leu4118Pro)
| |
1 | g.215675558A>T | CA344851174 | USH2A | c.12353T>A (p.Leu4118His)
| |
1 | g.215675559G>A | CA344851177 | USH2A | c.12352C>T (p.Leu4118Phe)
| |
1 | g.215675559G>C | CA344851178 | USH2A | c.12352C>G (p.Leu4118Val)
| |
1 | g.215675559G>T | CA344851179 | USH2A | c.12352C>A (p.Leu4118Ile)
| |
1 | g.215675559_215675560delinsGA | CA1220373980 | USH2A | c.12351_12352delinsTC (p.Phe4117=)
| |
1 | g.215675560A>C | CA344851181 | USH2A | c.12351T>G (p.Phe4117Leu)
| |
1 | g.215675560A>G | CA423311877 | USH2A | c.12351T>C (p.Phe4117=)
| ClinVar |
1 | g.215675560A>T | CA344851183 | USH2A | c.12351T>A (p.Phe4117Leu)
| |
1 | g.215675562del | CA529002116 | USH2A | c.12351del (p.Leu4118SerfsTer13)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675561A= | CA1220373981 | USH2A | c.12350T= (p.Phe4117=)
| |
1 | g.215675561A>C | CA344851185 | USH2A | c.12350T>G (p.Phe4117Cys)
| |
1 | g.215675561A>G | CA344851186 | USH2A | c.12350T>C (p.Phe4117Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675561A>T | CA344851188 | USH2A | c.12350T>A (p.Phe4117Tyr)
| |
1 | g.215675561_215675562insG | CA2558290317 | USH2A | c.12349_12350insC (p.Phe4117SerfsTer?)
| |
1 | g.215675562A= | CA1220373982 | USH2A | c.12349T= (p.Phe4117=)
| |
1 | g.215675562A>C | CA344851190 | USH2A | c.12349T>G (p.Phe4117Val)
| |
1 | g.215675562A>G | CA1393484 | USH2A | c.12349T>C (p.Phe4117Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675562A>T | CA344851192 | USH2A | c.12349T>A (p.Phe4117Ile)
| |
1 | g.215675563C>A | CA344851193 | USH2A | c.12348G>T (p.Gln4116His)
| |
1 | g.215675563C= | CA1220373983 | USH2A | c.12348G= (p.Gln4116=)
| |
1 | g.215675563C>G | CA1393485 | USH2A | c.12348G>C (p.Gln4116His)
| dbSNP ExAC gnomAD v4 |
1 | g.215675563C>T | CA423311884 | USH2A | c.12348G>A (p.Gln4116=)
| |
1 | g.215675563_215675568del | CA2747717666 | USH2A | c.12343_12348del (p.Arg4115_Gln4116del)
| |
1 | g.215675564T>A | CA344851196 | USH2A | c.12347A>T (p.Gln4116Leu)
| |
1 | g.215675564T>C | CA344851197 | USH2A | c.12347A>G (p.Gln4116Arg)
| |
1 | g.215675564T>G | CA344851199 | USH2A | c.12347A>C (p.Gln4116Pro)
| dbSNP gnomAD v4 |
1 | g.215675564T= | CA1220373984 | USH2A | c.12347A= (p.Gln4116=)
| |
1 | g.215675565G>A | CA344851201 | USH2A | c.12346C>T (p.Gln4116Ter)
| |
1 | g.215675565G>C | CA344851202 | USH2A | c.12346C>G (p.Gln4116Glu)
| |
1 | g.215675565G>T | CA344851203 | USH2A | c.12346C>A (p.Gln4116Lys)
| |
1 | g.215675566A>C | CA423311894 | USH2A | c.12345T>G (p.Arg4115=)
| |
1 | g.215675566A>G | CA423311893 | USH2A | c.12345T>C (p.Arg4115=)
| ClinVar dbSNP |
1 | g.215675566A>T | CA423311895 | USH2A | c.12345T>A (p.Arg4115=)
| |
1 | g.215675567C>A | CA344851207 | USH2A | c.12344G>T (p.Arg4115Leu)
| |
1 | g.215675567C= | CA1220373985 | USH2A | c.12344G= (p.Arg4115=)
| |
1 | g.215675567C>G | CA344851205 | USH2A | c.12344G>C (p.Arg4115Pro)
| |
1 | g.215675567C>T | CA1393486 | USH2A | c.12344G>A (p.Arg4115His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675568del | CA2747717667 | USH2A | c.12343del (p.Arg4115ValfsTer16)
| |
1 | g.215675568G>A | CA143286 | USH2A | c.12343C>T (p.Arg4115Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215675568G>C | CA344851208 | USH2A | c.12343C>G (p.Arg4115Gly)
| |
1 | g.215675568G= | CA1141189264 | USH2A | c.12343C= (p.Arg4115=)
| |
1 | g.215675568G>T | CA344851209 | USH2A | c.12343C>A (p.Arg4115Ser)
| |
1 | g.215675569A>C | CA344851211 | USH2A | c.12342T>G (p.Asn4114Lys)
| |
1 | g.215675569A>G | CA423311901 | USH2A | c.12342T>C (p.Asn4114=)
| |
1 | g.215675569A>T | CA344851212 | USH2A | c.12342T>A (p.Asn4114Lys)
| |
1 | g.215675570T>A | CA344851216 | USH2A | c.12341A>T (p.Asn4114Ile)
| |
1 | g.215675570T>C | CA344851213 | USH2A | c.12341A>G (p.Asn4114Ser)
| |
1 | g.215675570T>G | CA344851214 | USH2A | c.12341A>C (p.Asn4114Thr)
| |
1 | g.215675570_215675571del | CA2747717669 | USH2A | c.12340_12341del (p.Asn4114SerfsTer?)
| |
1 | g.215675571_215675572insGTTTT | CA2747717668 | USH2A | c.12341_12342insAACAA (p.Asn4114LysfsTer19)
| |
1 | g.215675571T>A | CA344851217 | USH2A | c.12340A>T (p.Asn4114Tyr)
| |
1 | g.215675571T>C | CA344851218 | USH2A | c.12340A>G (p.Asn4114Asp)
| |
1 | g.215675571T>G | CA344851220 | USH2A | c.12340A>C (p.Asn4114His)
| |
1 | g.215675572C>A | CA344851222 | USH2A | c.12339G>T (p.Leu4113Phe)
| gnomAD v4 |
1 | g.215675572C= | CA1220373986 | USH2A | c.12339G= (p.Leu4113=)
| |
1 | g.215675572C>G | CA344851224 | USH2A | c.12339G>C (p.Leu4113Phe)
| |
1 | g.215675572C>T | CA423311911 | USH2A | c.12339G>A (p.Leu4113=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675573A>C | CA344851225 | USH2A | c.12338T>G (p.Leu4113Trp)
| |
1 | g.215675573A>G | CA344851226 | USH2A | c.12338T>C (p.Leu4113Ser)
| |
1 | g.215675573A>T | CA344851227 | USH2A | c.12338T>A (p.Leu4113Ter)
| gnomAD v4 |
1 | g.215675574A>C | CA344851228 | USH2A | c.12337T>G (p.Leu4113Val)
| |
1 | g.215675574A>G | CA423311914 | USH2A | c.12337T>C (p.Leu4113=)
| |
1 | g.215675574A>T | CA344851229 | USH2A | c.12337T>A (p.Leu4113Met)
| |
1 | g.215675575A>C | CA423311917 | USH2A | c.12336T>G (p.Gly4112=)
| |
1 | g.215675575A>G | CA423311919 | USH2A | c.12336T>C (p.Gly4112=)
| |
1 | g.215675575A>T | CA423311920 | USH2A | c.12336T>A (p.Gly4112=)
| |
1 | g.215675576C>A | CA344851230 | USH2A | c.12335G>T (p.Gly4112Val)
| |
1 | g.215675576C= | CA1145494942 | USH2A | c.12335G= (p.Gly4112=)
| |
1 | g.215675576C>G | CA1393488 | USH2A | c.12335G>C (p.Gly4112Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675576C>T | CA1393487 | USH2A | c.12335G>A (p.Gly4112Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675577C>A | CA344851232 | USH2A | c.12334G>T (p.Gly4112Cys)
| |
1 | g.215675577C= | CA1142181995 | USH2A | c.12334G= (p.Gly4112=)
| |
1 | g.215675577C>G | CA344851234 | USH2A | c.12334G>C (p.Gly4112Arg)
| |
1 | g.215675577C>T | CA1393489 | USH2A | c.12334G>A (p.Gly4112Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675578A= | CA1220373987 | USH2A | c.12333T= (p.Ser4111=)
| |
1 | g.215675578A>C | CA423311932 | USH2A | c.12333T>G (p.Ser4111=)
| |
1 | g.215675578A>G | CA37413262 | USH2A | c.12333T>C (p.Ser4111=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675578A>T | CA423311934 | USH2A | c.12333T>A (p.Ser4111=)
| |
1 | g.215675578dup | CA916082116 | USH2A | c.12333dup (p.Gly4112TrpfsTer?)
| ClinVar dbSNP |
1 | g.215675579G>A | CA143284 | USH2A | c.12332C>T (p.Ser4111Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675579G>C | CA344851237 | USH2A | c.12332C>G (p.Ser4111Cys)
| |
1 | g.215675579G= | CA1141846177 | USH2A | c.12332C= (p.Ser4111=)
| |
1 | g.215675579G>T | CA344851238 | USH2A | c.12332C>A (p.Ser4111Tyr)
| |
1 | g.215675580A>C | CA344851239 | USH2A | c.12331T>G (p.Ser4111Ala)
| |
1 | g.215675580A>G | CA344851240 | USH2A | c.12331T>C (p.Ser4111Pro)
| |
1 | g.215675580A>T | CA344851241 | USH2A | c.12331T>A (p.Ser4111Thr)
| |
1 | g.215675581G>A | CA423311944 | USH2A | c.12330C>T (p.Tyr4110=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675581G>C | CA344851243 | USH2A | c.12330C>G (p.Tyr4110Ter)
| |
1 | g.215675581G>T | CA344851244 | USH2A | c.12330C>A (p.Tyr4110Ter)
| COSMIC COSMIC |
1 | g.215675582T>A | CA344851246 | USH2A | c.12329A>T (p.Tyr4110Phe)
| |
1 | g.215675582T>C | CA344851247 | USH2A | c.12329A>G (p.Tyr4110Cys)
| |
1 | g.215675582T>G | CA344851248 | USH2A | c.12329A>C (p.Tyr4110Ser)
| |
1 | g.215675583A= | CA1144558659 | USH2A | c.12328T= (p.Tyr4110=)
| |
1 | g.215675583A>C | CA37413268 | USH2A | c.12328T>G (p.Tyr4110Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215675583A>G | CA1393490 | USH2A | c.12328T>C (p.Tyr4110His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675583A>T | CA344851249 | USH2A | c.12328T>A (p.Tyr4110Asn)
| ClinVar dbSNP |
1 | g.215675584C>A | CA344851252 | USH2A | c.12327G>T (p.Glu4109Asp)
| dbSNP gnomAD v2 |
1 | g.215675584C= | CA1220373988 | USH2A | c.12327G= (p.Glu4109=)
| |
1 | g.215675584C>G | CA344851254 | USH2A | c.12327G>C (p.Glu4109Asp)
| |
1 | g.215675584C>T | CA423311951 | USH2A | c.12327G>A (p.Glu4109=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675585T>A | CA344851256 | USH2A | c.12326A>T (p.Glu4109Val)
| |
1 | g.215675585T>C | CA344851258 | USH2A | c.12326A>G (p.Glu4109Gly)
| |
1 | g.215675585T>G | CA344851259 | USH2A | c.12326A>C (p.Glu4109Ala)
| |
1 | g.215675586C>A | CA344851260 | USH2A | c.12325G>T (p.Glu4109Ter)
| COSMIC COSMIC |
1 | g.215675586C>G | CA344851262 | USH2A | c.12325G>C (p.Glu4109Gln)
| |
1 | g.215675586C>T | CA344851263 | USH2A | c.12325G>A (p.Glu4109Lys)
| gnomAD v4 COSMIC COSMIC |
1 | g.215675587C>A | CA423311959 | USH2A | c.12324G>T (p.Leu4108=)
| |
1 | g.215675587C>G | CA423311964 | USH2A | c.12324G>C (p.Leu4108=)
| |
1 | g.215675587C>T | CA423311965 | USH2A | c.12324G>A (p.Leu4108=)
| |
1 | g.215675588A>C | CA344851265 | USH2A | c.12323T>G (p.Leu4108Arg)
| gnomAD v4 |
1 | g.215675588A>G | CA344851266 | USH2A | c.12323T>C (p.Leu4108Pro)
| COSMIC COSMIC |
1 | g.215675588A>T | CA344851267 | USH2A | c.12323T>A (p.Leu4108Gln)
| |
1 | g.215675589G>A | CA423311967 | USH2A | c.12322C>T (p.Leu4108=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675589G>C | CA344851269 | USH2A | c.12322C>G (p.Leu4108Val)
| |
1 | g.215675589G= | CA1220373989 | USH2A | c.12322C= (p.Leu4108=)
| |
1 | g.215675589G>T | CA344851270 | USH2A | c.12322C>A (p.Leu4108Met)
| |
1 | g.215675590G>A | CA423311968 | USH2A | c.12321C>T (p.Phe4107=)
| ClinVar |
1 | g.215675590G>C | CA344851272 | USH2A | c.12321C>G (p.Phe4107Leu)
| |
1 | g.215675590G>T | CA344851273 | USH2A | c.12321C>A (p.Phe4107Leu)
| |
1 | g.215675591A>C | CA344851274 | USH2A | c.12320T>G (p.Phe4107Cys)
| ClinVar gnomAD v4 |
1 | g.215675591A>G | CA344851277 | USH2A | c.12320T>C (p.Phe4107Ser)
| |
1 | g.215675591A>T | CA344851276 | USH2A | c.12320T>A (p.Phe4107Tyr)
| |
1 | g.215675592A>C | CA344851278 | USH2A | c.12319T>G (p.Phe4107Val)
| |
1 | g.215675592A>G | CA344851281 | USH2A | c.12319T>C (p.Phe4107Leu)
| |
1 | g.215675592A>T | CA344851279 | USH2A | c.12319T>A (p.Phe4107Ile)
| gnomAD v4 |
1 | g.215675592_215675593delinsAC | CA1220373990 | USH2A | c.12318_12319delinsGT (p.Gly4106=)
| |
1 | g.215675594_215675600del | CA2580062348 | USH2A | c.12313_12319del (p.Asp4105SerfsTer7)
| ClinVar |
1 | g.215675592_215675610del | CA2747717670 | USH2A | c.12301_12319del (p.Asn4101SerfsTer7)
| |
1 | g.215675593C>A | CA423311975 | USH2A | c.12318G>T (p.Gly4106=)
| |
1 | g.215675593C= | CA1220373991 | USH2A | c.12318G= (p.Gly4106=)
| |
1 | g.215675593C>G | CA423311976 | USH2A | c.12318G>C (p.Gly4106=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675593C>T | CA423311978 | USH2A | c.12318G>A (p.Gly4106=)
| |
1 | g.215675595del | CA529002117 | USH2A | c.12318del (p.Phe4107SerfsTer7)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675594C>A | CA344851283 | USH2A | c.12317G>T (p.Gly4106Val)
| |
1 | g.215675594C>G | CA344851284 | USH2A | c.12317G>C (p.Gly4106Ala)
| |
1 | g.215675594C>T | CA344851286 | USH2A | c.12317G>A (p.Gly4106Glu)
| |
1 | g.215675595C>A | CA344851287 | USH2A | c.12316G>T (p.Gly4106Trp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675595C= | CA1220373992 | USH2A | c.12316G= (p.Gly4106=)
| |
1 | g.215675595C>G | CA344851288 | USH2A | c.12316G>C (p.Gly4106Arg)
| |
1 | g.215675595C>T | CA344851290 | USH2A | c.12316G>A (p.Gly4106Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
1 | g.215675595_215675596del | CA2747717671 | USH2A | c.12315_12316del (p.Asp4105GlufsTer?)
| |
1 | g.215675596G>A | CA1393491 | USH2A | c.12315C>T (p.Asp4105=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675596G>C | CA344851292 | USH2A | c.12315C>G (p.Asp4105Glu)
| |
1 | g.215675596G= | CA1220373993 | USH2A | c.12315C= (p.Asp4105=)
| |
1 | g.215675596G>T | CA344851293 | USH2A | c.12315C>A (p.Asp4105Glu)
| |
1 | g.215675597T>A | CA344851295 | USH2A | c.12314A>T (p.Asp4105Val)
| |
1 | g.215675597T>C | CA344851296 | USH2A | c.12314A>G (p.Asp4105Gly)
| |
1 | g.215675597T>G | CA344851297 | USH2A | c.12314A>C (p.Asp4105Ala)
| |
1 | g.215675598C>A | CA344851299 | USH2A | c.12313G>T (p.Asp4105Tyr)
| |
1 | g.215675598C>G | CA344851303 | USH2A | c.12313G>C (p.Asp4105His)
| |
1 | g.215675598C>T | CA344851301 | USH2A | c.12313G>A (p.Asp4105Asn)
| gnomAD v4 |
1 | g.215675599A= | CA1220373994 | USH2A | c.12312T= (p.Ser4104=)
| |
1 | g.215675599A>C | CA344851304 | USH2A | c.12312T>G (p.Ser4104Arg)
| dbSNP gnomAD v2 |
1 | g.215675599A>G | CA1393492 | USH2A | c.12312T>C (p.Ser4104=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675599A>T | CA344851307 | USH2A | c.12312T>A (p.Ser4104Arg)
| |
1 | g.215675600C>A | CA344851309 | USH2A | c.12311G>T (p.Ser4104Ile)
| |
1 | g.215675600C>G | CA344851311 | USH2A | c.12311G>C (p.Ser4104Thr)
| |
1 | g.215675600C>T | CA344851312 | USH2A | c.12311G>A (p.Ser4104Asn)
| |
1 | g.215675601T>A | CA344851314 | USH2A | c.12310A>T (p.Ser4104Cys)
| |
1 | g.215675601T>C | CA344851315 | USH2A | c.12310A>G (p.Ser4104Gly)
| gnomAD v4 |
1 | g.215675601T>G | CA344851316 | USH2A | c.12310A>C (p.Ser4104Arg)
| |
1 | g.215675601_215675602delinsTG | CA1220373995 | USH2A | c.12309_12310delinsCA (p.Phe4103=)
| |
1 | g.215675602del | CA645509093 | USH2A | c.12309del (p.Phe4103LeufsTer11)
| ClinVar dbSNP |
1 | g.215675602G>A | CA423312009 | USH2A | c.12309C>T (p.Phe4103=)
| |
1 | g.215675602G>C | CA344851318 | USH2A | c.12309C>G (p.Phe4103Leu)
| |
1 | g.215675602G>T | CA344851317 | USH2A | c.12309C>A (p.Phe4103Leu)
| |
1 | g.215675603A>C | CA344851320 | USH2A | c.12308T>G (p.Phe4103Cys)
| |
1 | g.215675603A>G | CA344851322 | USH2A | c.12308T>C (p.Phe4103Ser)
| |
1 | g.215675603A>T | CA344851323 | USH2A | c.12308T>A (p.Phe4103Tyr)
| gnomAD v4 |
1 | g.215675604A>C | CA344851325 | USH2A | c.12307T>G (p.Phe4103Val)
| |
1 | g.215675604A>G | CA344851326 | USH2A | c.12307T>C (p.Phe4103Leu)
| |
1 | g.215675604A>T | CA344851328 | USH2A | c.12307T>A (p.Phe4103Ile)
| |
1 | g.215675605G>A | CA423312014 | USH2A | c.12306C>T (p.Ile4102=)
| |
1 | g.215675605G>C | CA344851330 | USH2A | c.12306C>G (p.Ile4102Met)
| ClinVar dbSNP |
1 | g.215675605G>T | CA423312017 | USH2A | c.12306C>A (p.Ile4102=)
| |
1 | g.215675606A>C | CA344851331 | USH2A | c.12305T>G (p.Ile4102Ser)
| |
1 | g.215675606A>G | CA344851333 | USH2A | c.12305T>C (p.Ile4102Thr)
| |
1 | g.215675606A>T | CA344851334 | USH2A | c.12305T>A (p.Ile4102Asn)
| ClinVar |
1 | g.215675606_215675609delinsATGT | CA1220373996 | USH2A | c.12302_12305delinsACAT (p.Asn4101=)
| |
1 | g.215675607T>A | CA344851335 | USH2A | c.12304A>T (p.Ile4102Phe)
| |
1 | g.215675607T>C | CA1393493 | USH2A | c.12304A>G (p.Ile4102Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675607T>G | CA344851338 | USH2A | c.12304A>C (p.Ile4102Leu)
| |
1 | g.215675607T= | CA1144187467 | USH2A | c.12304A= (p.Ile4102=)
| |
1 | g.215675610_215675612del | CA916082117 | USH2A | c.12302_12304del (p.Asn4101del)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675608G>A | CA1393494 | USH2A | c.12303C>T (p.Asn4101=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675608G>C | CA344851341 | USH2A | c.12303C>G (p.Asn4101Lys)
| |
1 | g.215675608G= | CA1220373997 | USH2A | c.12303C= (p.Asn4101=)
| |
1 | g.215675608G>T | CA344851339 | USH2A | c.12303C>A (p.Asn4101Lys)
| |
1 | g.215675609T>A | CA1393495 | USH2A | c.12302A>T (p.Asn4101Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215675609T>C | CA37413281 | USH2A | c.12302A>G (p.Asn4101Ser)
| dbSNP gnomAD v4 |
1 | g.215675609T>G | CA344851344 | USH2A | c.12302A>C (p.Asn4101Thr)
| |
1 | g.215675609T= | CA1144115369 | USH2A | c.12302A= (p.Asn4101=)
| |
1 | g.215675610T>A | CA344851346 | USH2A | c.12301A>T (p.Asn4101Tyr)
| |
1 | g.215675610T>C | CA344851348 | USH2A | c.12301A>G (p.Asn4101Asp)
| |
1 | g.215675610T>G | CA344851350 | USH2A | c.12301A>C (p.Asn4101His)
| gnomAD v4 |
1 | g.215675611G>A | CA423312038 | USH2A | c.12300C>T (p.Tyr4100=)
| gnomAD v4 |
1 | g.215675611G>C | CA344851351 | USH2A | c.12300C>G (p.Tyr4100Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675611G= | CA1220373998 | USH2A | c.12300C= (p.Tyr4100=)
| |
1 | g.215675611G>T | CA344851353 | USH2A | c.12300C>A (p.Tyr4100Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215675612T>A | CA344851355 | USH2A | c.12299A>T (p.Tyr4100Phe)
| |
1 | g.215675612T>C | CA344851356 | USH2A | c.12299A>G (p.Tyr4100Cys)
| dbSNP |
1 | g.215675612T>G | CA344851357 | USH2A | c.12299A>C (p.Tyr4100Ser)
| |
1 | g.215675612T= | CA1220373999 | USH2A | c.12299A= (p.Tyr4100=)
| |
1 | g.215675613A= | CA1220374000 | USH2A | c.12298T= (p.Tyr4100=)
| |
1 | g.215675613A>C | CA344851361 | USH2A | c.12298T>G (p.Tyr4100Asp)
| |
1 | g.215675613A>G | CA344851362 | USH2A | c.12298T>C (p.Tyr4100His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675613A>T | CA344851359 | USH2A | c.12298T>A (p.Tyr4100Asn)
| |
1 | g.215675614T>A | CA423312049 | USH2A | c.12297A>T (p.Thr4099=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675614T>C | CA423312050 | USH2A | c.12297A>G (p.Thr4099=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215675614T>G | CA423312051 | USH2A | c.12297A>C (p.Thr4099=)
| |
1 | g.215675614T= | CA1220374001 | USH2A | c.12297A= (p.Thr4099=)
| |
1 | g.215675614_215675615insAGA | CA2747717672 | USH2A | c.12296_12297insTCT (p.Thr4099_Tyr4100insLeu)
| |
1 | g.215675615G>A | CA344851367 | USH2A | c.12296C>T (p.Thr4099Ile)
| |
1 | g.215675615G>C | CA344851364 | USH2A | c.12296C>G (p.Thr4099Arg)
| |
1 | g.215675615G>T | CA344851365 | USH2A | c.12296C>A (p.Thr4099Lys)
| |
1 | g.215675615_215675620del | CA2747717673 | USH2A | c.12295-4_12296del
| |
1 | g.215675616T>A | CA344851369 | USH2A | c.12295A>T (p.Thr4099Ser)
| |
1 | g.215675616T>C | CA344851370 | USH2A | c.12295A>G (p.Thr4099Ala)
| gnomAD v4 |
1 | g.215675616T>G | CA344851371 | USH2A | c.12295A>C (p.Thr4099Pro)
| gnomAD v4 |
1 | g.215675617C>A | CA344851372 | USH2A | c.12295-1G>T (n.12295-1G>T)
| |
1 | g.215675617C>G | CA344851373 | USH2A | c.12295-1G>C (n.12295-1G>C)
| |
1 | g.215675617C>T | CA344851374 | USH2A | c.12295-1G>A (n.12295-1G>A)
| |
1 | g.215675618T>A | CA344851376 | USH2A | c.12295-2A>T (n.12295-2A>T)
| |
1 | g.215675618T>C | CA262074 | USH2A | c.12295-2A>G (n.12295-2A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675618T>G | CA344851378 | USH2A | c.12295-2A>C (n.12295-2A>C)
| |
1 | g.215675618T= | CA1142409510 | USH2A | c.12295-2A= (n.12295-2A=)
| |
1 | g.215675619A= | CA1141189265 | USH2A | c.12295-3T= (n.12295-3T=)
| |
1 | g.215675619A>G | CA1220374002 | USH2A | c.12295-3T>C (n.12295-3T>C)
| dbSNP |
1 | g.215675619A>T | CA143283 | USH2A | c.12295-3T>A (n.12295-3T>A)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215675620del | CA2747717674 | USH2A | c.12295-4del (n.12295-4del)
| |