Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.127428507T>ACA348405002PROCc.947T>A (p.Val316Glu)
c.271T>A
c.1049T>A (p.Val350Glu)
c.1130T>A (p.Val377Glu)
c.1112T>A (p.Val371Glu)
c.1010T>A (p.Val337Glu)
n.1332-243A>T
c.1190T>A (p.Val397Glu)
c.1292T>A (p.Val431Glu)
c.1232T>A (p.Val411Glu)
n.3607-243A>T
n.4043-243A>T
c.1115T>A (p.Val372Glu)
c.1133T>A (p.Val378Glu)
c.890T>A (p.Val297Glu)
c.923T>A (p.Val308Glu)
c.941T>A (p.Val314Glu)
2g.127428507T>CCA348405005PROCc.947T>C (p.Val316Ala)
c.271T>C
c.1049T>C (p.Val350Ala)
c.1130T>C (p.Val377Ala)
c.1112T>C (p.Val371Ala)
c.1010T>C (p.Val337Ala)
n.1332-243A>G
c.1190T>C (p.Val397Ala)
c.1292T>C (p.Val431Ala)
c.1232T>C (p.Val411Ala)
n.3607-243A>G
n.4043-243A>G
c.1115T>C (p.Val372Ala)
c.1133T>C (p.Val378Ala)
c.890T>C (p.Val297Ala)
c.923T>C (p.Val308Ala)
c.941T>C (p.Val314Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.127428507T>GCA348405007PROCc.947T>G (p.Val316Gly)
c.271T>G
c.1049T>G (p.Val350Gly)
c.1130T>G (p.Val377Gly)
c.1112T>G (p.Val371Gly)
c.1010T>G (p.Val337Gly)
n.1332-243A>C
c.1190T>G (p.Val397Gly)
c.1292T>G (p.Val431Gly)
c.1232T>G (p.Val411Gly)
n.3607-243A>C
n.4043-243A>C
c.1115T>G (p.Val372Gly)
c.1133T>G (p.Val378Gly)
c.890T>G (p.Val297Gly)
c.923T>G (p.Val308Gly)
c.941T>G (p.Val314Gly)
2g.127428507T=CA1286884505PROCc.947T= (p.Val316=)
c.271T=
c.1049T= (p.Val350=)
c.1130T= (p.Val377=)
c.1112T= (p.Val371=)
c.1010T= (p.Val337=)
n.1332-243A=
c.1190T= (p.Val397=)
c.1292T= (p.Val431=)
c.1232T= (p.Val411=)
n.3607-243A=
n.4043-243A=
c.1115T= (p.Val372=)
c.1133T= (p.Val378=)
c.890T= (p.Val297=)
c.923T= (p.Val308=)
c.941T= (p.Val314=)
2g.127428508G>ACA428871584PROCc.948G>A (p.Val316=)
c.272G>A
c.1050G>A (p.Val350=)
c.1131G>A (p.Val377=)
c.1113G>A (p.Val371=)
c.1011G>A (p.Val337=)
n.1332-244C>T
c.1191G>A (p.Val397=)
c.1293G>A (p.Val431=)
c.1233G>A (p.Val411=)
n.3607-244C>T
n.4043-244C>T
c.1116G>A (p.Val372=)
c.1134G>A (p.Val378=)
c.891G>A (p.Val297=)
c.924G>A (p.Val308=)
c.942G>A (p.Val314=)
2g.127428508G>CCA428871585PROCc.948G>C (p.Val316=)
c.272G>C
c.1050G>C (p.Val350=)
c.1131G>C (p.Val377=)
c.1113G>C (p.Val371=)
c.1011G>C (p.Val337=)
n.1332-244C>G
c.1191G>C (p.Val397=)
c.1293G>C (p.Val431=)
c.1233G>C (p.Val411=)
n.3607-244C>G
n.4043-244C>G
c.1116G>C (p.Val372=)
c.1134G>C (p.Val378=)
c.891G>C (p.Val297=)
c.924G>C (p.Val308=)
c.942G>C (p.Val314=)
2g.127428508G>TCA428871587PROCc.948G>T (p.Val316=)
c.272G>T
c.1050G>T (p.Val350=)
c.1131G>T (p.Val377=)
c.1113G>T (p.Val371=)
c.1011G>T (p.Val337=)
n.1332-244C>A
c.1191G>T (p.Val397=)
c.1293G>T (p.Val431=)
c.1233G>T (p.Val411=)
n.3607-244C>A
n.4043-244C>A
c.1116G>T (p.Val372=)
c.1134G>T (p.Val378=)
c.891G>T (p.Val297=)
c.924G>T (p.Val308=)
c.942G>T (p.Val314=)
2g.127428509C>ACA348405012PROCc.949C>A (p.Pro317Thr)
c.273C>A
c.1051C>A (p.Pro351Thr)
c.1132C>A (p.Pro378Thr)
c.1114C>A (p.Pro372Thr)
c.1012C>A (p.Pro338Thr)
n.1332-245G>T
c.1192C>A (p.Pro398Thr)
c.1294C>A (p.Pro432Thr)
c.1234C>A (p.Pro412Thr)
n.3607-245G>T
n.4043-245G>T
c.1117C>A (p.Pro373Thr)
c.1135C>A (p.Pro379Thr)
c.892C>A (p.Pro298Thr)
c.925C>A (p.Pro309Thr)
c.943C>A (p.Pro315Thr)
2g.127428509C>GCA348405009PROCc.949C>G (p.Pro317Ala)
c.273C>G
c.1051C>G (p.Pro351Ala)
c.1132C>G (p.Pro378Ala)
c.1114C>G (p.Pro372Ala)
c.1012C>G (p.Pro338Ala)
n.1332-245G>C
c.1192C>G (p.Pro398Ala)
c.1294C>G (p.Pro432Ala)
c.1234C>G (p.Pro412Ala)
n.3607-245G>C
n.4043-245G>C
c.1117C>G (p.Pro373Ala)
c.1135C>G (p.Pro379Ala)
c.892C>G (p.Pro298Ala)
c.925C>G (p.Pro309Ala)
c.943C>G (p.Pro315Ala)
2g.127428509C>TCA348405008PROCc.949C>T (p.Pro317Ser)
c.273C>T
c.1051C>T (p.Pro351Ser)
c.1132C>T (p.Pro378Ser)
c.1114C>T (p.Pro372Ser)
c.1012C>T (p.Pro338Ser)
n.1332-245G>A
c.1192C>T (p.Pro398Ser)
c.1294C>T (p.Pro432Ser)
c.1234C>T (p.Pro412Ser)
n.3607-245G>A
n.4043-245G>A
c.1117C>T (p.Pro373Ser)
c.1135C>T (p.Pro379Ser)
c.892C>T (p.Pro298Ser)
c.925C>T (p.Pro309Ser)
c.943C>T (p.Pro315Ser)
2g.127428510C>ACA348405017PROCc.950C>A (p.Pro317His)
c.274C>A
c.1052C>A (p.Pro351His)
c.1133C>A (p.Pro378His)
c.1115C>A (p.Pro372His)
c.1013C>A (p.Pro338His)
n.1332-246G>T
c.1193C>A (p.Pro398His)
c.1295C>A (p.Pro432His)
c.1235C>A (p.Pro412His)
n.3607-246G>T
n.4043-246G>T
c.1118C>A (p.Pro373His)
c.1136C>A (p.Pro379His)
c.893C>A (p.Pro298His)
c.926C>A (p.Pro309His)
c.944C>A (p.Pro315His)
2g.127428510C>GCA348405025PROCc.950C>G (p.Pro317Arg)
c.274C>G
c.1052C>G (p.Pro351Arg)
c.1133C>G (p.Pro378Arg)
c.1115C>G (p.Pro372Arg)
c.1013C>G (p.Pro338Arg)
n.1332-246G>C
c.1193C>G (p.Pro398Arg)
c.1295C>G (p.Pro432Arg)
c.1235C>G (p.Pro412Arg)
n.3607-246G>C
n.4043-246G>C
c.1118C>G (p.Pro373Arg)
c.1136C>G (p.Pro379Arg)
c.893C>G (p.Pro298Arg)
c.926C>G (p.Pro309Arg)
c.944C>G (p.Pro315Arg)
2g.127428510C>TCA348405020PROCc.950C>T (p.Pro317Leu)
c.274C>T
c.1052C>T (p.Pro351Leu)
c.1133C>T (p.Pro378Leu)
c.1115C>T (p.Pro372Leu)
c.1013C>T (p.Pro338Leu)
n.1332-246G>A
c.1193C>T (p.Pro398Leu)
c.1295C>T (p.Pro432Leu)
c.1235C>T (p.Pro412Leu)
n.3607-246G>A
n.4043-246G>A
c.1118C>T (p.Pro373Leu)
c.1136C>T (p.Pro379Leu)
c.893C>T (p.Pro298Leu)
c.926C>T (p.Pro309Leu)
c.944C>T (p.Pro315Leu)
2g.127428511C>ACA1859491PROCc.951C>A (p.Pro317=)
c.275C>A
c.1053C>A (p.Pro351=)
c.1134C>A (p.Pro378=)
c.1116C>A (p.Pro372=)
c.1014C>A (p.Pro338=)
n.1332-247G>T
c.1194C>A (p.Pro398=)
c.1296C>A (p.Pro432=)
c.1236C>A (p.Pro412=)
n.3607-247G>T
n.4043-247G>T
c.1119C>A (p.Pro373=)
c.1137C>A (p.Pro379=)
c.894C>A (p.Pro298=)
c.927C>A (p.Pro309=)
c.945C>A (p.Pro315=)
 dbSNP ExAC
2g.127428511C=CA1286884506PROCc.951C= (p.Pro317=)
c.275C=
c.1053C= (p.Pro351=)
c.1134C= (p.Pro378=)
c.1116C= (p.Pro372=)
c.1014C= (p.Pro338=)
n.1332-247G=
c.1194C= (p.Pro398=)
c.1296C= (p.Pro432=)
c.1236C= (p.Pro412=)
n.3607-247G=
n.4043-247G=
c.1119C= (p.Pro373=)
c.1137C= (p.Pro379=)
c.894C= (p.Pro298=)
c.927C= (p.Pro309=)
c.945C= (p.Pro315=)
2g.127428511C>GCA428871601PROCc.951C>G (p.Pro317=)
c.275C>G
c.1053C>G (p.Pro351=)
c.1134C>G (p.Pro378=)
c.1116C>G (p.Pro372=)
c.1014C>G (p.Pro338=)
n.1332-247G>C
c.1194C>G (p.Pro398=)
c.1296C>G (p.Pro432=)
c.1236C>G (p.Pro412=)
n.3607-247G>C
n.4043-247G>C
c.1119C>G (p.Pro373=)
c.1137C>G (p.Pro379=)
c.894C>G (p.Pro298=)
c.927C>G (p.Pro309=)
c.945C>G (p.Pro315=)
2g.127428511C>TCA428871599PROCc.951C>T (p.Pro317=)
c.275C>T
c.1053C>T (p.Pro351=)
c.1134C>T (p.Pro378=)
c.1116C>T (p.Pro372=)
c.1014C>T (p.Pro338=)
n.1332-247G>A
c.1194C>T (p.Pro398=)
c.1296C>T (p.Pro432=)
c.1236C>T (p.Pro412=)
n.3607-247G>A
n.4043-247G>A
c.1119C>T (p.Pro373=)
c.1137C>T (p.Pro379=)
c.894C>T (p.Pro298=)
c.927C>T (p.Pro309=)
c.945C>T (p.Pro315=)
2g.127428512A>CCA348405027PROCc.952A>C (p.Ile318Leu)
c.276A>C
c.1054A>C (p.Ile352Leu)
c.1135A>C (p.Ile379Leu)
c.1117A>C (p.Ile373Leu)
c.1015A>C (p.Ile339Leu)
n.1332-248T>G
c.1195A>C (p.Ile399Leu)
c.1297A>C (p.Ile433Leu)
c.1237A>C (p.Ile413Leu)
n.3607-248T>G
n.4043-248T>G
c.1120A>C (p.Ile374Leu)
c.1138A>C (p.Ile380Leu)
c.895A>C (p.Ile299Leu)
c.928A>C (p.Ile310Leu)
c.946A>C (p.Ile316Leu)
2g.127428512A>GCA348405030PROCc.952A>G (p.Ile318Val)
c.276A>G
c.1054A>G (p.Ile352Val)
c.1135A>G (p.Ile379Val)
c.1117A>G (p.Ile373Val)
c.1015A>G (p.Ile339Val)
n.1332-248T>C
c.1195A>G (p.Ile399Val)
c.1297A>G (p.Ile433Val)
c.1237A>G (p.Ile413Val)
n.3607-248T>C
n.4043-248T>C
c.1120A>G (p.Ile374Val)
c.1138A>G (p.Ile380Val)
c.895A>G (p.Ile299Val)
c.928A>G (p.Ile310Val)
c.946A>G (p.Ile316Val)
2g.127428512A>TCA348405031PROCc.952A>T (p.Ile318Phe)
c.276A>T
c.1054A>T (p.Ile352Phe)
c.1135A>T (p.Ile379Phe)
c.1117A>T (p.Ile373Phe)
c.1015A>T (p.Ile339Phe)
n.1332-248T>A
c.1195A>T (p.Ile399Phe)
c.1297A>T (p.Ile433Phe)
c.1237A>T (p.Ile413Phe)
n.3607-248T>A
n.4043-248T>A
c.1120A>T (p.Ile374Phe)
c.1138A>T (p.Ile380Phe)
c.895A>T (p.Ile299Phe)
c.928A>T (p.Ile310Phe)
c.946A>T (p.Ile316Phe)
2g.127428513T>ACA348405043PROCc.953T>A (p.Ile318Asn)
c.277T>A
c.1055T>A (p.Ile352Asn)
c.1136T>A (p.Ile379Asn)
c.1118T>A (p.Ile373Asn)
c.1016T>A (p.Ile339Asn)
n.1332-249A>T
c.1196T>A (p.Ile399Asn)
c.1298T>A (p.Ile433Asn)
c.1238T>A (p.Ile413Asn)
n.3607-249A>T
n.4043-249A>T
c.1121T>A (p.Ile374Asn)
c.1139T>A (p.Ile380Asn)
c.896T>A (p.Ile299Asn)
c.929T>A (p.Ile310Asn)
c.947T>A (p.Ile316Asn)
2g.127428513T>CCA348405046PROCc.953T>C (p.Ile318Thr)
c.277T>C
c.1055T>C (p.Ile352Thr)
c.1136T>C (p.Ile379Thr)
c.1118T>C (p.Ile373Thr)
c.1016T>C (p.Ile339Thr)
n.1332-249A>G
c.1196T>C (p.Ile399Thr)
c.1298T>C (p.Ile433Thr)
c.1238T>C (p.Ile413Thr)
n.3607-249A>G
n.4043-249A>G
c.1121T>C (p.Ile374Thr)
c.1139T>C (p.Ile380Thr)
c.896T>C (p.Ile299Thr)
c.929T>C (p.Ile310Thr)
c.947T>C (p.Ile316Thr)
2g.127428513T>GCA348405048PROCc.953T>G (p.Ile318Ser)
c.277T>G
c.1055T>G (p.Ile352Ser)
c.1136T>G (p.Ile379Ser)
c.1118T>G (p.Ile373Ser)
c.1016T>G (p.Ile339Ser)
n.1332-249A>C
c.1196T>G (p.Ile399Ser)
c.1298T>G (p.Ile433Ser)
c.1238T>G (p.Ile413Ser)
n.3607-249A>C
n.4043-249A>C
c.1121T>G (p.Ile374Ser)
c.1139T>G (p.Ile380Ser)
c.896T>G (p.Ile299Ser)
c.929T>G (p.Ile310Ser)
c.947T>G (p.Ile316Ser)
2g.127428514C>ACA428871613PROCc.954C>A (p.Ile318=)
c.278C>A
c.1056C>A (p.Ile352=)
c.1137C>A (p.Ile379=)
c.1119C>A (p.Ile373=)
c.1017C>A (p.Ile339=)
n.1332-250G>T
c.1197C>A (p.Ile399=)
c.1299C>A (p.Ile433=)
c.1239C>A (p.Ile413=)
n.3607-250G>T
n.4043-250G>T
c.1122C>A (p.Ile374=)
c.1140C>A (p.Ile380=)
c.897C>A (p.Ile299=)
c.930C>A (p.Ile310=)
c.948C>A (p.Ile316=)
2g.127428514C>GCA348405050PROCc.954C>G (p.Ile318Met)
c.278C>G
c.1056C>G (p.Ile352Met)
c.1137C>G (p.Ile379Met)
c.1119C>G (p.Ile373Met)
c.1017C>G (p.Ile339Met)
n.1332-250G>C
c.1197C>G (p.Ile399Met)
c.1299C>G (p.Ile433Met)
c.1239C>G (p.Ile413Met)
n.3607-250G>C
n.4043-250G>C
c.1122C>G (p.Ile374Met)
c.1140C>G (p.Ile380Met)
c.897C>G (p.Ile299Met)
c.930C>G (p.Ile310Met)
c.948C>G (p.Ile316Met)
2g.127428514C>TCA428871617PROCc.954C>T (p.Ile318=)
c.278C>T
c.1056C>T (p.Ile352=)
c.1137C>T (p.Ile379=)
c.1119C>T (p.Ile373=)
c.1017C>T (p.Ile339=)
n.1332-250G>A
c.1197C>T (p.Ile399=)
c.1299C>T (p.Ile433=)
c.1239C>T (p.Ile413=)
n.3607-250G>A
n.4043-250G>A
c.1122C>T (p.Ile374=)
c.1140C>T (p.Ile380=)
c.897C>T (p.Ile299=)
c.930C>T (p.Ile310=)
c.948C>T (p.Ile316=)
2g.127428516_127428534delCA2660997778PROCc.956_974del (p.Cys319LeufsTer15)
c.280_298del
c.1058_1076del (p.Cys353LeufsTer15)
c.1139_1157del (p.Cys380LeufsTer15)
c.1121_1139del (p.Cys374LeufsTer15)
c.1019_1037del (p.Cys340LeufsTer15)
n.1332-268_1332-250del
c.1199_1217del (p.Cys400LeufsTer15)
c.1301_1319del (p.Cys434LeufsTer15)
c.1241_1259del (p.Cys414LeufsTer15)
n.3607-268_3607-250del
n.4043-268_4043-250del
c.1124_1142del (p.Cys375LeufsTer15)
c.1142_1160del (p.Cys381LeufsTer15)
c.899_917del (p.Cys300LeufsTer15)
c.932_950del (p.Cys311LeufsTer15)
c.950_968del (p.Cys317LeufsTer15)
 gnomAD v4
2g.127428515T>ACA348405052PROCc.955T>A (p.Cys319Ser)
c.279T>A
c.1057T>A (p.Cys353Ser)
c.1138T>A (p.Cys380Ser)
c.1120T>A (p.Cys374Ser)
c.1018T>A (p.Cys340Ser)
n.1332-251A>T
c.1198T>A (p.Cys400Ser)
c.1300T>A (p.Cys434Ser)
c.1240T>A (p.Cys414Ser)
n.3607-251A>T
n.4043-251A>T
c.1123T>A (p.Cys375Ser)
c.1141T>A (p.Cys381Ser)
c.898T>A (p.Cys300Ser)
c.931T>A (p.Cys311Ser)
c.949T>A (p.Cys317Ser)
2g.127428515T>CCA348405055PROCc.955T>C (p.Cys319Arg)
c.279T>C
c.1057T>C (p.Cys353Arg)
c.1138T>C (p.Cys380Arg)
c.1120T>C (p.Cys374Arg)
c.1018T>C (p.Cys340Arg)
n.1332-251A>G
c.1198T>C (p.Cys400Arg)
c.1300T>C (p.Cys434Arg)
c.1240T>C (p.Cys414Arg)
n.3607-251A>G
n.4043-251A>G
c.1123T>C (p.Cys375Arg)
c.1141T>C (p.Cys381Arg)
c.898T>C (p.Cys300Arg)
c.931T>C (p.Cys311Arg)
c.949T>C (p.Cys317Arg)
2g.127428515T>GCA348405058PROCc.955T>G (p.Cys319Gly)
c.279T>G
c.1057T>G (p.Cys353Gly)
c.1138T>G (p.Cys380Gly)
c.1120T>G (p.Cys374Gly)
c.1018T>G (p.Cys340Gly)
n.1332-251A>C
c.1198T>G (p.Cys400Gly)
c.1300T>G (p.Cys434Gly)
c.1240T>G (p.Cys414Gly)
n.3607-251A>C
n.4043-251A>C
c.1123T>G (p.Cys375Gly)
c.1141T>G (p.Cys381Gly)
c.898T>G (p.Cys300Gly)
c.931T>G (p.Cys311Gly)
c.949T>G (p.Cys317Gly)
2g.127428516G>ACA348405067PROCc.956G>A (p.Cys319Tyr)
c.280G>A
c.1058G>A (p.Cys353Tyr)
c.1139G>A (p.Cys380Tyr)
c.1121G>A (p.Cys374Tyr)
c.1019G>A (p.Cys340Tyr)
n.1332-252C>T
c.1199G>A (p.Cys400Tyr)
c.1301G>A (p.Cys434Tyr)
c.1241G>A (p.Cys414Tyr)
n.3607-252C>T
n.4043-252C>T
c.1124G>A (p.Cys375Tyr)
c.1142G>A (p.Cys381Tyr)
c.899G>A (p.Cys300Tyr)
c.932G>A (p.Cys311Tyr)
c.950G>A (p.Cys317Tyr)
2g.127428516G>CCA348405061PROCc.956G>C (p.Cys319Ser)
c.280G>C
c.1058G>C (p.Cys353Ser)
c.1139G>C (p.Cys380Ser)
c.1121G>C (p.Cys374Ser)
c.1019G>C (p.Cys340Ser)
n.1332-252C>G
c.1199G>C (p.Cys400Ser)
c.1301G>C (p.Cys434Ser)
c.1241G>C (p.Cys414Ser)
n.3607-252C>G
n.4043-252C>G
c.1124G>C (p.Cys375Ser)
c.1142G>C (p.Cys381Ser)
c.899G>C (p.Cys300Ser)
c.932G>C (p.Cys311Ser)
c.950G>C (p.Cys317Ser)
2g.127428516G>TCA348405063PROCc.956G>T (p.Cys319Phe)
c.280G>T
c.1058G>T (p.Cys353Phe)
c.1139G>T (p.Cys380Phe)
c.1121G>T (p.Cys374Phe)
c.1019G>T (p.Cys340Phe)
n.1332-252C>A
c.1199G>T (p.Cys400Phe)
c.1301G>T (p.Cys434Phe)
c.1241G>T (p.Cys414Phe)
n.3607-252C>A
n.4043-252C>A
c.1124G>T (p.Cys375Phe)
c.1142G>T (p.Cys381Phe)
c.899G>T (p.Cys300Phe)
c.932G>T (p.Cys311Phe)
c.950G>T (p.Cys317Phe)
2g.127428517C>ACA348405071PROCc.957C>A (p.Cys319Ter)
c.281C>A
c.1059C>A (p.Cys353Ter)
c.1140C>A (p.Cys380Ter)
c.1122C>A (p.Cys374Ter)
c.1020C>A (p.Cys340Ter)
n.1332-253G>T
c.1200C>A (p.Cys400Ter)
c.1302C>A (p.Cys434Ter)
c.1242C>A (p.Cys414Ter)
n.3607-253G>T
n.4043-253G>T
c.1125C>A (p.Cys375Ter)
c.1143C>A (p.Cys381Ter)
c.900C>A (p.Cys300Ter)
c.933C>A (p.Cys311Ter)
c.951C>A (p.Cys317Ter)
2g.127428517C=CA1286884507PROCc.957C= (p.Cys319=)
c.281C=
c.1059C= (p.Cys353=)
c.1140C= (p.Cys380=)
c.1122C= (p.Cys374=)
c.1020C= (p.Cys340=)
n.1332-253G=
c.1200C= (p.Cys400=)
c.1302C= (p.Cys434=)
c.1242C= (p.Cys414=)
n.3607-253G=
n.4043-253G=
c.1125C= (p.Cys375=)
c.1143C= (p.Cys381=)
c.900C= (p.Cys300=)
c.933C= (p.Cys311=)
c.951C= (p.Cys317=)
2g.127428517C>GCA348405073PROCc.957C>G (p.Cys319Trp)
c.281C>G
c.1059C>G (p.Cys353Trp)
c.1140C>G (p.Cys380Trp)
c.1122C>G (p.Cys374Trp)
c.1020C>G (p.Cys340Trp)
n.1332-253G>C
c.1200C>G (p.Cys400Trp)
c.1302C>G (p.Cys434Trp)
c.1242C>G (p.Cys414Trp)
n.3607-253G>C
n.4043-253G>C
c.1125C>G (p.Cys375Trp)
c.1143C>G (p.Cys381Trp)
c.900C>G (p.Cys300Trp)
c.933C>G (p.Cys311Trp)
c.951C>G (p.Cys317Trp)
2g.127428517C>TCA428871640PROCc.957C>T (p.Cys319=)
c.281C>T
c.1059C>T (p.Cys353=)
c.1140C>T (p.Cys380=)
c.1122C>T (p.Cys374=)
c.1020C>T (p.Cys340=)
n.1332-253G>A
c.1200C>T (p.Cys400=)
c.1302C>T (p.Cys434=)
c.1242C>T (p.Cys414=)
n.3607-253G>A
n.4043-253G>A
c.1125C>T (p.Cys375=)
c.1143C>T (p.Cys381=)
c.900C>T (p.Cys300=)
c.933C>T (p.Cys311=)
c.951C>T (p.Cys317=)
 dbSNP COSMIC
2g.127428518C>ACA348405076PROCc.958C>A (p.Leu320Ile)
c.282C>A
c.1060C>A (p.Leu354Ile)
c.1141C>A (p.Leu381Ile)
c.1123C>A (p.Leu375Ile)
c.1021C>A (p.Leu341Ile)
n.1332-254G>T
c.1201C>A (p.Leu401Ile)
c.1303C>A (p.Leu435Ile)
c.1243C>A (p.Leu415Ile)
n.3607-254G>T
n.4043-254G>T
c.1126C>A (p.Leu376Ile)
c.1144C>A (p.Leu382Ile)
c.901C>A (p.Leu301Ile)
c.934C>A (p.Leu312Ile)
c.952C>A (p.Leu318Ile)
2g.127428518C>GCA348405077PROCc.958C>G (p.Leu320Val)
c.282C>G
c.1060C>G (p.Leu354Val)
c.1141C>G (p.Leu381Val)
c.1123C>G (p.Leu375Val)
c.1021C>G (p.Leu341Val)
n.1332-254G>C
c.1201C>G (p.Leu401Val)
c.1303C>G (p.Leu435Val)
c.1243C>G (p.Leu415Val)
n.3607-254G>C
n.4043-254G>C
c.1126C>G (p.Leu376Val)
c.1144C>G (p.Leu382Val)
c.901C>G (p.Leu301Val)
c.934C>G (p.Leu312Val)
c.952C>G (p.Leu318Val)
2g.127428518C>TCA348405078PROCc.958C>T (p.Leu320Phe)
c.282C>T
c.1060C>T (p.Leu354Phe)
c.1141C>T (p.Leu381Phe)
c.1123C>T (p.Leu375Phe)
c.1021C>T (p.Leu341Phe)
n.1332-254G>A
c.1201C>T (p.Leu401Phe)
c.1303C>T (p.Leu435Phe)
c.1243C>T (p.Leu415Phe)
n.3607-254G>A
n.4043-254G>A
c.1126C>T (p.Leu376Phe)
c.1144C>T (p.Leu382Phe)
c.901C>T (p.Leu301Phe)
c.934C>T (p.Leu312Phe)
c.952C>T (p.Leu318Phe)
2g.127428519T>ACA348405079PROCc.959T>A (p.Leu320His)
c.283T>A
c.1061T>A (p.Leu354His)
c.1142T>A (p.Leu381His)
c.1124T>A (p.Leu375His)
c.1022T>A (p.Leu341His)
n.1332-255A>T
c.1202T>A (p.Leu401His)
c.1304T>A (p.Leu435His)
c.1244T>A (p.Leu415His)
n.3607-255A>T
n.4043-255A>T
c.1127T>A (p.Leu376His)
c.1145T>A (p.Leu382His)
c.902T>A (p.Leu301His)
c.935T>A (p.Leu312His)
c.953T>A (p.Leu318His)
2g.127428519T>CCA348405081PROCc.959T>C (p.Leu320Pro)
c.283T>C
c.1061T>C (p.Leu354Pro)
c.1142T>C (p.Leu381Pro)
c.1124T>C (p.Leu375Pro)
c.1022T>C (p.Leu341Pro)
n.1332-255A>G
c.1202T>C (p.Leu401Pro)
c.1304T>C (p.Leu435Pro)
c.1244T>C (p.Leu415Pro)
n.3607-255A>G
n.4043-255A>G
c.1127T>C (p.Leu376Pro)
c.1145T>C (p.Leu382Pro)
c.902T>C (p.Leu301Pro)
c.935T>C (p.Leu312Pro)
c.953T>C (p.Leu318Pro)
2g.127428519T>GCA348405094PROCc.959T>G (p.Leu320Arg)
c.283T>G
c.1061T>G (p.Leu354Arg)
c.1142T>G (p.Leu381Arg)
c.1124T>G (p.Leu375Arg)
c.1022T>G (p.Leu341Arg)
n.1332-255A>C
c.1202T>G (p.Leu401Arg)
c.1304T>G (p.Leu435Arg)
c.1244T>G (p.Leu415Arg)
n.3607-255A>C
n.4043-255A>C
c.1127T>G (p.Leu376Arg)
c.1145T>G (p.Leu382Arg)
c.902T>G (p.Leu301Arg)
c.935T>G (p.Leu312Arg)
c.953T>G (p.Leu318Arg)
2g.127428520C>ACA428871657PROCc.960C>A (p.Leu320=)
c.284C>A
c.1062C>A (p.Leu354=)
c.1143C>A (p.Leu381=)
c.1125C>A (p.Leu375=)
c.1023C>A (p.Leu341=)
n.1332-256G>T
c.1203C>A (p.Leu401=)
c.1305C>A (p.Leu435=)
c.1245C>A (p.Leu415=)
n.3607-256G>T
n.4043-256G>T
c.1128C>A (p.Leu376=)
c.1146C>A (p.Leu382=)
c.903C>A (p.Leu301=)
c.936C>A (p.Leu312=)
c.954C>A (p.Leu318=)
2g.127428520C>GCA428871659PROCc.960C>G (p.Leu320=)
c.284C>G
c.1062C>G (p.Leu354=)
c.1143C>G (p.Leu381=)
c.1125C>G (p.Leu375=)
c.1023C>G (p.Leu341=)
n.1332-256G>C
c.1203C>G (p.Leu401=)
c.1305C>G (p.Leu435=)
c.1245C>G (p.Leu415=)
n.3607-256G>C
n.4043-256G>C
c.1128C>G (p.Leu376=)
c.1146C>G (p.Leu382=)
c.903C>G (p.Leu301=)
c.936C>G (p.Leu312=)
c.954C>G (p.Leu318=)
2g.127428520C>TCA428871660PROCc.960C>T (p.Leu320=)
c.284C>T
c.1062C>T (p.Leu354=)
c.1143C>T (p.Leu381=)
c.1125C>T (p.Leu375=)
c.1023C>T (p.Leu341=)
n.1332-256G>A
c.1203C>T (p.Leu401=)
c.1305C>T (p.Leu435=)
c.1245C>T (p.Leu415=)
n.3607-256G>A
n.4043-256G>A
c.1128C>T (p.Leu376=)
c.1146C>T (p.Leu382=)
c.903C>T (p.Leu301=)
c.936C>T (p.Leu312=)
c.954C>T (p.Leu318=)
2g.127428521C>ACA348405096PROCc.961C>A (p.Pro321Thr)
c.285C>A
c.1063C>A (p.Pro355Thr)
c.1144C>A (p.Pro382Thr)
c.1126C>A (p.Pro376Thr)
c.1024C>A (p.Pro342Thr)
n.1332-257G>T
c.1204C>A (p.Pro402Thr)
c.1306C>A (p.Pro436Thr)
c.1246C>A (p.Pro416Thr)
n.3607-257G>T
n.4043-257G>T
c.1129C>A (p.Pro377Thr)
c.1147C>A (p.Pro383Thr)
c.904C>A (p.Pro302Thr)
c.937C>A (p.Pro313Thr)
c.955C>A (p.Pro319Thr)
2g.127428521C>GCA348405097PROCc.961C>G (p.Pro321Ala)
c.285C>G
c.1063C>G (p.Pro355Ala)
c.1144C>G (p.Pro382Ala)
c.1126C>G (p.Pro376Ala)
c.1024C>G (p.Pro342Ala)
n.1332-257G>C
c.1204C>G (p.Pro402Ala)
c.1306C>G (p.Pro436Ala)
c.1246C>G (p.Pro416Ala)
n.3607-257G>C
n.4043-257G>C
c.1129C>G (p.Pro377Ala)
c.1147C>G (p.Pro383Ala)
c.904C>G (p.Pro302Ala)
c.937C>G (p.Pro313Ala)
c.955C>G (p.Pro319Ala)
2g.127428521C>TCA348405098PROCc.961C>T (p.Pro321Ser)
c.285C>T
c.1063C>T (p.Pro355Ser)
c.1144C>T (p.Pro382Ser)
c.1126C>T (p.Pro376Ser)
c.1024C>T (p.Pro342Ser)
n.1332-257G>A
c.1204C>T (p.Pro402Ser)
c.1306C>T (p.Pro436Ser)
c.1246C>T (p.Pro416Ser)
n.3607-257G>A
n.4043-257G>A
c.1129C>T (p.Pro377Ser)
c.1147C>T (p.Pro383Ser)
c.904C>T (p.Pro302Ser)
c.937C>T (p.Pro313Ser)
c.955C>T (p.Pro319Ser)
 gnomAD v4
2g.127428522C>ACA348405101PROCc.962C>A (p.Pro321Gln)
c.286C>A
c.1064C>A (p.Pro355Gln)
c.1145C>A (p.Pro382Gln)
c.1127C>A (p.Pro376Gln)
c.1025C>A (p.Pro342Gln)
n.1332-258G>T
c.1205C>A (p.Pro402Gln)
c.1307C>A (p.Pro436Gln)
c.1247C>A (p.Pro416Gln)
n.3607-258G>T
n.4043-258G>T
c.1130C>A (p.Pro377Gln)
c.1148C>A (p.Pro383Gln)
c.905C>A (p.Pro302Gln)
c.938C>A (p.Pro313Gln)
c.956C>A (p.Pro319Gln)

Number of alleles fetched