17 | g.42404687T>A | CA399581815 | CAVIN1 | c.1173A>T (p.Ter391Cys)
| gnomAD v4 |
17 | g.42404687T>C | CA399581818 | CAVIN1 | c.1173A>G (p.Ter391Trp)
| gnomAD v4 |
17 | g.42404687T>G | CA399581823 | CAVIN1 | c.1173A>C (p.Ter391Cys)
| |
17 | g.42404688C>A | CA399581826 | CAVIN1 | c.1172G>T (p.Ter391Leu)
| gnomAD v4 |
17 | g.42404688C= | CA2260466748 | CAVIN1 | c.1172G= (p.Ter391=)
| |
17 | g.42404688C>G | CA399581830 | CAVIN1 | c.1172G>C (p.Ter391Ser)
| |
17 | g.42404688C>T | CA500060279 | CAVIN1 | c.1172G>A (p.Ter391=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404689A= | CA2260466749 | CAVIN1 | c.1171T= (p.Ter391=)
| |
17 | g.42404689A>C | CA399581845 | CAVIN1 | c.1171T>G (p.Ter391Gly)
| gnomAD v4 |
17 | g.42404689A>G | CA399581842 | CAVIN1 | c.1171T>C (p.Ter391Arg)
| dbSNP gnomAD v4 |
17 | g.42404689A>T | CA399581834 | CAVIN1 | c.1171T>A (p.Ter391Arg)
| gnomAD v4 |
17 | g.42404690G>A | CA500060281 | CAVIN1 | c.1170C>T (p.Asp390=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404690G>C | CA399581859 | CAVIN1 | c.1170C>G (p.Asp390Glu)
| gnomAD v4 |
17 | g.42404690G= | CA2260466750 | CAVIN1 | c.1170C= (p.Asp390=)
| |
17 | g.42404690G>T | CA399581864 | CAVIN1 | c.1170C>A (p.Asp390Glu)
| gnomAD v4 |
17 | g.42404691T>A | CA399581868 | CAVIN1 | c.1169A>T (p.Asp390Val)
| gnomAD v4 |
17 | g.42404691T>C | CA399581871 | CAVIN1 | c.1169A>G (p.Asp390Gly)
| gnomAD v4 |
17 | g.42404691T>G | CA399581877 | CAVIN1 | c.1169A>C (p.Asp390Ala)
| |
17 | g.42404692C>A | CA399581879 | CAVIN1 | c.1168G>T (p.Asp390Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404692C= | CA2260466751 | CAVIN1 | c.1168G= (p.Asp390=)
| |
17 | g.42404692C>G | CA399581888 | CAVIN1 | c.1168G>C (p.Asp390His)
| |
17 | g.42404692C>T | CA399581891 | CAVIN1 | c.1168G>A (p.Asp390Asn)
| gnomAD v4 |
17 | g.42404693G>A | CA500060284 | CAVIN1 | c.1167C>T (p.Ser389=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404693G>C | CA399581894 | CAVIN1 | c.1167C>G (p.Ser389Arg)
| |
17 | g.42404693G= | CA2260466752 | CAVIN1 | c.1167C= (p.Ser389=)
| |
17 | g.42404693G>T | CA399581898 | CAVIN1 | c.1167C>A (p.Ser389Arg)
| gnomAD v4 |
17 | g.42404694C>A | CA399581902 | CAVIN1 | c.1166G>T (p.Ser389Ile)
| gnomAD v4 |
17 | g.42404694C= | CA2260466753 | CAVIN1 | c.1166G= (p.Ser389=)
| |
17 | g.42404694C>G | CA399581904 | CAVIN1 | c.1166G>C (p.Ser389Thr)
| dbSNP gnomAD v2 |
17 | g.42404694C>T | CA399581915 | CAVIN1 | c.1166G>A (p.Ser389Asn)
| gnomAD v4 |
17 | g.42404695T>A | CA399581918 | CAVIN1 | c.1165A>T (p.Ser389Cys)
| dbSNP gnomAD v4 |
17 | g.42404695T>C | CA399581920 | CAVIN1 | c.1165A>G (p.Ser389Gly)
| dbSNP gnomAD v4 |
17 | g.42404695T>G | CA399581929 | CAVIN1 | c.1165A>C (p.Ser389Arg)
| |
17 | g.42404695T= | CA2260466754 | CAVIN1 | c.1165A= (p.Ser389=)
| |
17 | g.42404696G>A | CA500060286 | CAVIN1 | c.1164C>T (p.Asp388=)
| gnomAD v4 |
17 | g.42404696G>C | CA399581934 | CAVIN1 | c.1164C>G (p.Asp388Glu)
| gnomAD v4 |
17 | g.42404696G>T | CA399581939 | CAVIN1 | c.1164C>A (p.Asp388Glu)
| gnomAD v4 |
17 | g.42404697T>A | CA399581942 | CAVIN1 | c.1163A>T (p.Asp388Val)
| gnomAD v4 |
17 | g.42404697T>C | CA399581947 | CAVIN1 | c.1163A>G (p.Asp388Gly)
| gnomAD v4 |
17 | g.42404697T>G | CA399581953 | CAVIN1 | c.1163A>C (p.Asp388Ala)
| |
17 | g.42404698C>A | CA399581964 | CAVIN1 | c.1162G>T (p.Asp388Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404698C= | CA2260466755 | CAVIN1 | c.1162G= (p.Asp388=)
| |
17 | g.42404698C>G | CA399581966 | CAVIN1 | c.1162G>C (p.Asp388His)
| gnomAD v4 |
17 | g.42404698C>T | CA399581967 | CAVIN1 | c.1162G>A (p.Asp388Asn)
| gnomAD v4 |
17 | g.42404699_42404700del | CA2576275143 | CAVIN1 | c.1161_1162del (p.Ser387ArgfsTer?)
| |
17 | g.42404699G>A | CA500060287 | CAVIN1 | c.1161C>T (p.Ser387=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404699G>C | CA399581968 | CAVIN1 | c.1161C>G (p.Ser387Arg)
| |
17 | g.42404699G= | CA2260466756 | CAVIN1 | c.1161C= (p.Ser387=)
| |
17 | g.42404699G>T | CA290750193 | CAVIN1 | c.1161C>A (p.Ser387Arg)
| dbSNP gnomAD v4 |
17 | g.42404700C>A | CA399581970 | CAVIN1 | c.1160G>T (p.Ser387Ile)
| gnomAD v4 |
17 | g.42404700C>G | CA399581977 | CAVIN1 | c.1160G>C (p.Ser387Thr)
| |
17 | g.42404700C>T | CA399581979 | CAVIN1 | c.1160G>A (p.Ser387Asn)
| gnomAD v4 |
17 | g.42404701T>A | CA399581988 | CAVIN1 | c.1159A>T (p.Ser387Cys)
| gnomAD v4 |
17 | g.42404701T>C | CA399581985 | CAVIN1 | c.1159A>G (p.Ser387Gly)
| gnomAD v4 |
17 | g.42404701T>G | CA399581983 | CAVIN1 | c.1159A>C (p.Ser387Arg)
| |
17 | g.42404702C>A | CA399581992 | CAVIN1 | c.1158G>T (p.Lys386Asn)
| gnomAD v4 |
17 | g.42404702C>G | CA399582001 | CAVIN1 | c.1158G>C (p.Lys386Asn)
| |
17 | g.42404702C>T | CA500215440 | CAVIN1 | c.1158G>A (p.Lys386=)
| gnomAD v4 |
17 | g.42404703T>A | CA399582011 | CAVIN1 | c.1157A>T (p.Lys386Met)
| gnomAD v4 |
17 | g.42404703T>C | CA399582014 | CAVIN1 | c.1157A>G (p.Lys386Arg)
| gnomAD v4 |
17 | g.42404703T>G | CA399582017 | CAVIN1 | c.1157A>C (p.Lys386Thr)
| |
17 | g.42404704del | CA2637956453 | CAVIN1 | c.1157del (p.Lys386ArgfsTer?)
| gnomAD v4 |
17 | g.42404704T>A | CA399582020 | CAVIN1 | c.1156A>T (p.Lys386Ter)
| gnomAD v4 |
17 | g.42404704T>C | CA399582021 | CAVIN1 | c.1156A>G (p.Lys386Glu)
| gnomAD v4 |
17 | g.42404704T>G | CA399582024 | CAVIN1 | c.1156A>C (p.Lys386Gln)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404704T= | CA2260466757 | CAVIN1 | c.1156A= (p.Lys386=)
| |
17 | g.42404704_42404732delinsTGTCCACCAGCACGGCGTCCGACTCCTCG | CA2260466758 | CAVIN1 | c.1128_1156delinsCGAGGAGTCGGACGCCGTGCTGGTGGACA (p.Thr376=)
| |
17 | g.42404705G>A | CA500215441 | CAVIN1 | c.1155C>T (p.Asp385=)
| gnomAD v4 |
17 | g.42404705G>C | CA399582029 | CAVIN1 | c.1155C>G (p.Asp385Glu)
| |
17 | g.42404705G>T | CA399582038 | CAVIN1 | c.1155C>A (p.Asp385Glu)
| gnomAD v4 |
17 | g.42404707_42404734del | CA772120449 | CAVIN1 | c.1128_1155del (p.Glu377ArgfsTer?)
| dbSNP |
17 | g.42404706T>A | CA399582042 | CAVIN1 | c.1154A>T (p.Asp385Val)
| gnomAD v4 |
17 | g.42404706T>C | CA399582065 | CAVIN1 | c.1154A>G (p.Asp385Gly)
| gnomAD v4 |
17 | g.42404706T>G | CA399582069 | CAVIN1 | c.1154A>C (p.Asp385Ala)
| |
17 | g.42404707C>A | CA399582077 | CAVIN1 | c.1153G>T (p.Asp385Tyr)
| gnomAD v4 |
17 | g.42404707C= | CA2260466759 | CAVIN1 | c.1153G= (p.Asp385=)
| |
17 | g.42404707C>G | CA399582073 | CAVIN1 | c.1153G>C (p.Asp385His)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404707C>T | CA399582076 | CAVIN1 | c.1153G>A (p.Asp385Asn)
| gnomAD v4 |
17 | g.42404708del | CA2637956454 | CAVIN1 | c.1153del (p.Asp385ThrfsTer?)
| gnomAD v4 |
17 | g.42404708C>A | CA500215442 | CAVIN1 | c.1152G>T (p.Val384=)
| gnomAD v4 |
17 | g.42404708C= | CA2260466760 | CAVIN1 | c.1152G= (p.Val384=)
| |
17 | g.42404708C>G | CA500215443 | CAVIN1 | c.1152G>C (p.Val384=)
| |
17 | g.42404708C>T | CA290750203 | CAVIN1 | c.1152G>A (p.Val384=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404709A>C | CA399582082 | CAVIN1 | c.1151T>G (p.Val384Gly)
| |
17 | g.42404709A>G | CA399582085 | CAVIN1 | c.1151T>C (p.Val384Ala)
| gnomAD v4 |
17 | g.42404709A>T | CA399582087 | CAVIN1 | c.1151T>A (p.Val384Glu)
| gnomAD v4 |
17 | g.42404710C>A | CA399582093 | CAVIN1 | c.1150G>T (p.Val384Leu)
| gnomAD v4 |
17 | g.42404710C= | CA2260466761 | CAVIN1 | c.1150G= (p.Val384=)
| |
17 | g.42404710C>G | CA399582096 | CAVIN1 | c.1150G>C (p.Val384Leu)
| gnomAD v4 |
17 | g.42404710C>T | CA290750229 | CAVIN1 | c.1150G>A (p.Val384Met)
| dbSNP gnomAD v4 |
17 | g.42404711del | CA2637956455 | CAVIN1 | c.1150del (p.Val384TrpfsTer?)
| gnomAD v4 |
17 | g.42404711C>A | CA500215445 | CAVIN1 | c.1149G>T (p.Leu383=)
| gnomAD v4 |
17 | g.42404711C= | CA2260466762 | CAVIN1 | c.1149G= (p.Leu383=)
| |
17 | g.42404711C>G | CA500215444 | CAVIN1 | c.1149G>C (p.Leu383=)
| gnomAD v4 |
17 | g.42404711C>T | CA500215446 | CAVIN1 | c.1149G>A (p.Leu383=)
| dbSNP gnomAD v4 |
17 | g.42404712A>C | CA399582100 | CAVIN1 | c.1148T>G (p.Leu383Arg)
| |
17 | g.42404712A>G | CA399582102 | CAVIN1 | c.1148T>C (p.Leu383Pro)
| gnomAD v4 |
17 | g.42404712A>T | CA399582106 | CAVIN1 | c.1148T>A (p.Leu383Gln)
| gnomAD v4 |
17 | g.42404713G>A | CA500215447 | CAVIN1 | c.1147C>T (p.Leu383=)
| gnomAD v4 |
17 | g.42404713G>C | CA399582107 | CAVIN1 | c.1147C>G (p.Leu383Val)
| |
17 | g.42404713G= | CA2260466763 | CAVIN1 | c.1147C= (p.Leu383=)
| |
17 | g.42404713G>T | CA290750235 | CAVIN1 | c.1147C>A (p.Leu383Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404714C>A | CA500215448 | CAVIN1 | c.1146G>T (p.Val382=)
| gnomAD v4 |
17 | g.42404714C>G | CA500215450 | CAVIN1 | c.1146G>C (p.Val382=)
| |
17 | g.42404714C>T | CA500215449 | CAVIN1 | c.1146G>A (p.Val382=)
| gnomAD v4 |
17 | g.42404715A= | CA2260466764 | CAVIN1 | c.1145T= (p.Val382=)
| |
17 | g.42404715A>C | CA399582112 | CAVIN1 | c.1145T>G (p.Val382Gly)
| |
17 | g.42404715A>G | CA399582110 | CAVIN1 | c.1145T>C (p.Val382Ala)
| gnomAD v4 |
17 | g.42404715A>T | CA399582108 | CAVIN1 | c.1145T>A (p.Val382Glu)
| |
17 | g.42404716C>A | CA8575744 | CAVIN1 | c.1144G>T (p.Val382Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404716C= | CA2260466765 | CAVIN1 | c.1144G= (p.Val382=)
| |
17 | g.42404716C>G | CA399582124 | CAVIN1 | c.1144G>C (p.Val382Leu)
| |
17 | g.42404716C>T | CA399582121 | CAVIN1 | c.1144G>A (p.Val382Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404719_42404733dup | CA983833721 | CAVIN1 | c.1130_1144dup (p.Ala381_Val382insGluGluSerAspAla)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404717G>A | CA290750266 | CAVIN1 | c.1143C>T (p.Ala381=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404717G>C | CA500215451 | CAVIN1 | c.1143C>G (p.Ala381=)
| gnomAD v4 COSMIC |
17 | g.42404717G= | CA2260466766 | CAVIN1 | c.1143C= (p.Ala381=)
| |
17 | g.42404717G>T | CA500215452 | CAVIN1 | c.1143C>A (p.Ala381=)
| gnomAD v4 |
17 | g.42404718G>A | CA399582145 | CAVIN1 | c.1142C>T (p.Ala381Val)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404718G>C | CA399582148 | CAVIN1 | c.1142C>G (p.Ala381Gly)
| dbSNP |
17 | g.42404718G= | CA2260466767 | CAVIN1 | c.1142C= (p.Ala381=)
| |
17 | g.42404718G>T | CA399582156 | CAVIN1 | c.1142C>A (p.Ala381Asp)
| gnomAD v4 |
17 | g.42404719C>A | CA399582163 | CAVIN1 | c.1141G>T (p.Ala381Ser)
| gnomAD v4 |
17 | g.42404719C= | CA2260466768 | CAVIN1 | c.1141G= (p.Ala381=)
| |
17 | g.42404719C>G | CA399582167 | CAVIN1 | c.1141G>C (p.Ala381Pro)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404719C>T | CA399582182 | CAVIN1 | c.1141G>A (p.Ala381Thr)
| dbSNP gnomAD v4 |
17 | g.42404720G>A | CA500215453 | CAVIN1 | c.1140C>T (p.Asp380=)
| dbSNP gnomAD v4 |
17 | g.42404720G>C | CA399582185 | CAVIN1 | c.1140C>G (p.Asp380Glu)
| dbSNP gnomAD v2 |
17 | g.42404720G= | CA2260466769 | CAVIN1 | c.1140C= (p.Asp380=)
| |
17 | g.42404720G>T | CA399582189 | CAVIN1 | c.1140C>A (p.Asp380Glu)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404721T>A | CA399582192 | CAVIN1 | c.1139A>T (p.Asp380Val)
| dbSNP gnomAD v4 |
17 | g.42404721T>C | CA399582197 | CAVIN1 | c.1139A>G (p.Asp380Gly)
| gnomAD v4 |
17 | g.42404721T>G | CA399582200 | CAVIN1 | c.1139A>C (p.Asp380Ala)
| |
17 | g.42404721T= | CA2260466770 | CAVIN1 | c.1139A= (p.Asp380=)
| |
17 | g.42404722C>A | CA399582214 | CAVIN1 | c.1138G>T (p.Asp380Tyr)
| dbSNP gnomAD v4 |
17 | g.42404722C= | CA2260466771 | CAVIN1 | c.1138G= (p.Asp380=)
| |
17 | g.42404722C>G | CA399582210 | CAVIN1 | c.1138G>C (p.Asp380His)
| ClinVar dbSNP gnomAD v4 |
17 | g.42404722C>T | CA399582212 | CAVIN1 | c.1138G>A (p.Asp380Asn)
| gnomAD v4 |
17 | g.42404722_42404723insGGT | CA2260466773 | CAVIN1 | c.1137_1138insACC (p.Ser379_Asp380insThr)
| dbSNP |
17 | g.42404723C>A | CA8575745 | CAVIN1 | c.1137G>T (p.Ser379=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404723C= | CA2260466772 | CAVIN1 | c.1137G= (p.Ser379=)
| |
17 | g.42404723C>G | CA500215454 | CAVIN1 | c.1137G>C (p.Ser379=)
| dbSNP gnomAD v4 |
17 | g.42404723C>T | CA500215455 | CAVIN1 | c.1137G>A (p.Ser379=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
17 | g.42404724G>A | CA399582222 | CAVIN1 | c.1136C>T (p.Ser379Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404724G>C | CA399582233 | CAVIN1 | c.1136C>G (p.Ser379Trp)
| |
17 | g.42404724G= | CA2260466774 | CAVIN1 | c.1136C= (p.Ser379=)
| |
17 | g.42404724G>T | CA8575746 | CAVIN1 | c.1136C>A (p.Ser379Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404725A>C | CA399582240 | CAVIN1 | c.1135T>G (p.Ser379Ala)
| gnomAD v4 |
17 | g.42404725A>G | CA399582244 | CAVIN1 | c.1135T>C (p.Ser379Pro)
| dbSNP |
17 | g.42404725A>T | CA399582246 | CAVIN1 | c.1135T>A (p.Ser379Thr)
| gnomAD v4 |
17 | g.42404726C>A | CA399582251 | CAVIN1 | c.1134G>T (p.Glu378Asp)
| gnomAD v4 |
17 | g.42404726C>G | CA399582254 | CAVIN1 | c.1134G>C (p.Glu378Asp)
| |
17 | g.42404726C>T | CA500215456 | CAVIN1 | c.1134G>A (p.Glu378=)
| gnomAD v4 |
17 | g.42404729_42404731dup | CA2594068998 | CAVIN1 | c.1132_1134dup (p.Glu378_Ser379insGlu)
| gnomAD v3 gnomAD v4 |
17 | g.42404727T>A | CA399582259 | CAVIN1 | c.1133A>T (p.Glu378Val)
| |
17 | g.42404727T>C | CA399582263 | CAVIN1 | c.1133A>G (p.Glu378Gly)
| gnomAD v4 |
17 | g.42404727T>G | CA399582266 | CAVIN1 | c.1133A>C (p.Glu378Ala)
| |
17 | g.42404728C>A | CA399582278 | CAVIN1 | c.1132G>T (p.Glu378Ter)
| gnomAD v4 |
17 | g.42404728C= | CA2260466775 | CAVIN1 | c.1132G= (p.Glu378=)
| |
17 | g.42404728C>G | CA399582275 | CAVIN1 | c.1132G>C (p.Glu378Gln)
| dbSNP |
17 | g.42404728C>T | CA399582271 | CAVIN1 | c.1132G>A (p.Glu378Lys)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404729C>A | CA399582288 | CAVIN1 | c.1131G>T (p.Glu377Asp)
| dbSNP gnomAD v4 |
17 | g.42404729C= | CA2260466776 | CAVIN1 | c.1131G= (p.Glu377=)
| |
17 | g.42404729C>G | CA399582283 | CAVIN1 | c.1131G>C (p.Glu377Asp)
| gnomAD v4 |
17 | g.42404729C>T | CA500215457 | CAVIN1 | c.1131G>A (p.Glu377=)
| gnomAD v4 |
17 | g.42404730T>A | CA399582290 | CAVIN1 | c.1130A>T (p.Glu377Val)
| |
17 | g.42404730T>C | CA399582297 | CAVIN1 | c.1130A>G (p.Glu377Gly)
| gnomAD v4 |
17 | g.42404730T>G | CA399582300 | CAVIN1 | c.1130A>C (p.Glu377Ala)
| |
17 | g.42404731C>A | CA399582303 | CAVIN1 | c.1129G>T (p.Glu377Ter)
| gnomAD v4 |
17 | g.42404731C>G | CA399582306 | CAVIN1 | c.1129G>C (p.Glu377Gln)
| gnomAD v4 |
17 | g.42404731C>T | CA399582308 | CAVIN1 | c.1129G>A (p.Glu377Lys)
| gnomAD v4 |
17 | g.42404732G>A | CA8575747 | CAVIN1 | c.1128C>T (p.Thr376=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42404732G>C | CA500215459 | CAVIN1 | c.1128C>G (p.Thr376=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404732G= | CA2260466777 | CAVIN1 | c.1128C= (p.Thr376=)
| |
17 | g.42404732G>T | CA500215458 | CAVIN1 | c.1128C>A (p.Thr376=)
| gnomAD v4 |
17 | g.42404732_42404735dup | CA2637956456 | CAVIN1 | c.1125_1128dup (p.Glu377HisfsTer?)
| gnomAD v4 |
17 | g.42404733G>A | CA399582315 | CAVIN1 | c.1127C>T (p.Thr376Ile)
| gnomAD v4 |
17 | g.42404733G>C | CA399582319 | CAVIN1 | c.1127C>G (p.Thr376Ser)
| |
17 | g.42404733G>T | CA399582321 | CAVIN1 | c.1127C>A (p.Thr376Asn)
| gnomAD v4 |
17 | g.42404734T>A | CA399582323 | CAVIN1 | c.1126A>T (p.Thr376Ser)
| gnomAD v4 |
17 | g.42404734T>C | CA399582324 | CAVIN1 | c.1126A>G (p.Thr376Ala)
| |
17 | g.42404734T>G | CA399582325 | CAVIN1 | c.1126A>C (p.Thr376Pro)
| |
17 | g.42404736_42404765dup | CA2637956457 | CAVIN1 | c.1097_1126dup (p.Ile375_Thr376insSerProAspValHisAlaLeuLeuGluIle)
| gnomAD v4 |
17 | g.42404735G>A | CA500215460 | CAVIN1 | c.1125C>T (p.Ile375=)
| |
17 | g.42404735G>C | CA399582326 | CAVIN1 | c.1125C>G (p.Ile375Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404735G= | CA2260466778 | CAVIN1 | c.1125C= (p.Ile375=)
| |
17 | g.42404735G>T | CA500215461 | CAVIN1 | c.1125C>A (p.Ile375=)
| dbSNP gnomAD v4 |
17 | g.42404736A>C | CA399582327 | CAVIN1 | c.1124T>G (p.Ile375Ser)
| |
17 | g.42404736A>G | CA399582329 | CAVIN1 | c.1124T>C (p.Ile375Thr)
| gnomAD v4 |
17 | g.42404736A>T | CA399582333 | CAVIN1 | c.1124T>A (p.Ile375Asn)
| |
17 | g.42404737T>A | CA399582336 | CAVIN1 | c.1123A>T (p.Ile375Phe)
| dbSNP |
17 | g.42404737T>C | CA399582337 | CAVIN1 | c.1123A>G (p.Ile375Val)
| gnomAD v4 |
17 | g.42404737T>G | CA399582339 | CAVIN1 | c.1123A>C (p.Ile375Leu)
| |
17 | g.42404737T= | CA2260466779 | CAVIN1 | c.1123A= (p.Ile375=)
| |
17 | g.42404738C>A | CA399582342 | CAVIN1 | c.1122G>T (p.Glu374Asp)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404738C= | CA2260466780 | CAVIN1 | c.1122G= (p.Glu374=)
| |
17 | g.42404738C>G | CA399582344 | CAVIN1 | c.1122G>C (p.Glu374Asp)
| gnomAD v4 |
17 | g.42404738C>T | CA500215462 | CAVIN1 | c.1122G>A (p.Glu374=)
| |
17 | g.42404739T>A | CA399582346 | CAVIN1 | c.1121A>T (p.Glu374Val)
| dbSNP |
17 | g.42404739T>C | CA399582349 | CAVIN1 | c.1121A>G (p.Glu374Gly)
| gnomAD v4 |
17 | g.42404739T>G | CA399582352 | CAVIN1 | c.1121A>C (p.Glu374Ala)
| |
17 | g.42404739T= | CA2260466781 | CAVIN1 | c.1121A= (p.Glu374=)
| |
17 | g.42404740C>A | CA399582354 | CAVIN1 | c.1120G>T (p.Glu374Ter)
| gnomAD v4 |
17 | g.42404740C>G | CA399582357 | CAVIN1 | c.1120G>C (p.Glu374Gln)
| |
17 | g.42404740C>T | CA399582360 | CAVIN1 | c.1120G>A (p.Glu374Lys)
| gnomAD v4 |
17 | g.42404741C>A | CA500215464 | CAVIN1 | c.1119G>T (p.Leu373=)
| gnomAD v4 |
17 | g.42404741C>G | CA500215465 | CAVIN1 | c.1119G>C (p.Leu373=)
| |
17 | g.42404741C>T | CA500215463 | CAVIN1 | c.1119G>A (p.Leu373=)
| gnomAD v4 |
17 | g.42404742A>C | CA399582366 | CAVIN1 | c.1118T>G (p.Leu373Arg)
| |
17 | g.42404742A>G | CA399582369 | CAVIN1 | c.1118T>C (p.Leu373Pro)
| gnomAD v4 |
17 | g.42404742A>T | CA399582363 | CAVIN1 | c.1118T>A (p.Leu373Gln)
| |
17 | g.42404743G>A | CA500215466 | CAVIN1 | c.1117C>T (p.Leu373=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404743G>C | CA399582372 | CAVIN1 | c.1117C>G (p.Leu373Val)
| gnomAD v4 |
17 | g.42404743G= | CA2260466782 | CAVIN1 | c.1117C= (p.Leu373=)
| |
17 | g.42404743G>T | CA399582376 | CAVIN1 | c.1117C>A (p.Leu373Met)
| gnomAD v4 |
17 | g.42404744C>A | CA500215469 | CAVIN1 | c.1116G>T (p.Leu372=)
| dbSNP gnomAD v4 |
17 | g.42404744C= | CA2260466783 | CAVIN1 | c.1116G= (p.Leu372=)
| |
17 | g.42404744C>G | CA500215467 | CAVIN1 | c.1116G>C (p.Leu372=)
| |
17 | g.42404744C>T | CA500215468 | CAVIN1 | c.1116G>A (p.Leu372=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404745A>C | CA399582379 | CAVIN1 | c.1115T>G (p.Leu372Arg)
| |
17 | g.42404745A>G | CA399582380 | CAVIN1 | c.1115T>C (p.Leu372Pro)
| gnomAD v4 |
17 | g.42404745A>T | CA399582382 | CAVIN1 | c.1115T>A (p.Leu372Gln)
| |
17 | g.42404746G>A | CA500215470 | CAVIN1 | c.1114C>T (p.Leu372=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404746G>C | CA399582386 | CAVIN1 | c.1114C>G (p.Leu372Val)
| |
17 | g.42404746G= | CA2260466784 | CAVIN1 | c.1114C= (p.Leu372=)
| |
17 | g.42404746G>T | CA399582389 | CAVIN1 | c.1114C>A (p.Leu372Met)
| gnomAD v4 |
17 | g.42404746_42404747delinsGC | CA2260466785 | CAVIN1 | c.1113_1114delinsGC (p.Ala371=)
| |
17 | g.42404747del | CA2260466786 | CAVIN1 | c.1113del (p.Leu372CysfsTer?)
| dbSNP |
17 | g.42404747C>A | CA500215473 | CAVIN1 | c.1113G>T (p.Ala371=)
| gnomAD v4 |
17 | g.42404747C>G | CA500215471 | CAVIN1 | c.1113G>C (p.Ala371=)
| |
17 | g.42404747C>T | CA500215472 | CAVIN1 | c.1113G>A (p.Ala371=)
| gnomAD v4 |
17 | g.42404748G>A | CA399582390 | CAVIN1 | c.1112C>T (p.Ala371Val)
| gnomAD v4 |
17 | g.42404748G>C | CA399582397 | CAVIN1 | c.1112C>G (p.Ala371Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404748G= | CA2260466787 | CAVIN1 | c.1112C= (p.Ala371=)
| |
17 | g.42404748G>T | CA399582400 | CAVIN1 | c.1112C>A (p.Ala371Glu)
| gnomAD v4 |
17 | g.42404749C>A | CA399582402 | CAVIN1 | c.1111G>T (p.Ala371Ser)
| gnomAD v4 |
17 | g.42404749C= | CA2260466788 | CAVIN1 | c.1111G= (p.Ala371=)
| |
17 | g.42404749C>G | CA8575748 | CAVIN1 | c.1111G>C (p.Ala371Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404749C>T | CA399582406 | CAVIN1 | c.1111G>A (p.Ala371Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.42404750G>A | CA290750293 | CAVIN1 | c.1110C>T (p.His370=)
| dbSNP gnomAD v4 |
17 | g.42404750G>C | CA399582410 | CAVIN1 | c.1110C>G (p.His370Gln)
| |
17 | g.42404750G= | CA2260466789 | CAVIN1 | c.1110C= (p.His370=)
| |
17 | g.42404750G>T | CA399582413 | CAVIN1 | c.1110C>A (p.His370Gln)
| gnomAD v4 |
17 | g.42404751T>A | CA399582421 | CAVIN1 | c.1109A>T (p.His370Leu)
| gnomAD v4 |
17 | g.42404751T>C | CA399582416 | CAVIN1 | c.1109A>G (p.His370Arg)
| |
17 | g.42404751T>G | CA399582418 | CAVIN1 | c.1109A>C (p.His370Pro)
| |
17 | g.42404752G>A | CA399582424 | CAVIN1 | c.1108C>T (p.His370Tyr)
| gnomAD v4 |
17 | g.42404752G>C | CA399582427 | CAVIN1 | c.1108C>G (p.His370Asp)
| gnomAD v4 |
17 | g.42404752G>T | CA399582429 | CAVIN1 | c.1108C>A (p.His370Asn)
| gnomAD v4 |
17 | g.42404753C>A | CA500215476 | CAVIN1 | c.1107G>T (p.Val369=)
| gnomAD v4 |
17 | g.42404753C>G | CA500215474 | CAVIN1 | c.1107G>C (p.Val369=)
| gnomAD v4 |
17 | g.42404753C>T | CA500215475 | CAVIN1 | c.1107G>A (p.Val369=)
| gnomAD v4 |
17 | g.42404754A= | CA2260466790 | CAVIN1 | c.1106T= (p.Val369=)
| |
17 | g.42404754A>C | CA290750294 | CAVIN1 | c.1106T>G (p.Val369Gly)
| dbSNP |
17 | g.42404754A>G | CA399582434 | CAVIN1 | c.1106T>C (p.Val369Ala)
| |
17 | g.42404754A>T | CA399582437 | CAVIN1 | c.1106T>A (p.Val369Glu)
| |
17 | g.42404755C>A | CA399582440 | CAVIN1 | c.1105G>T (p.Val369Leu)
| gnomAD v4 |
17 | g.42404755C>G | CA399582443 | CAVIN1 | c.1105G>C (p.Val369Leu)
| |
17 | g.42404755C>T | CA399582445 | CAVIN1 | c.1105G>A (p.Val369Met)
| gnomAD v4 |
17 | g.42404757_42404759dup | CA2576275144 | CAVIN1 | c.1103_1105dup (p.Asp368_Val369insAsp)
| |
17 | g.42404756del | CA2637956458 | CAVIN1 | c.1104del (p.Asp368GlufsTer?)
| gnomAD v4 |
17 | g.42404756G>A | CA500215477 | CAVIN1 | c.1104C>T (p.Asp368=)
| dbSNP gnomAD v4 |
17 | g.42404756G>C | CA399582448 | CAVIN1 | c.1104C>G (p.Asp368Glu)
| |
17 | g.42404756G= | CA2260466791 | CAVIN1 | c.1104C= (p.Asp368=)
| |
17 | g.42404756G>T | CA399582449 | CAVIN1 | c.1104C>A (p.Asp368Glu)
| gnomAD v4 |
17 | g.42404757T>A | CA399582456 | CAVIN1 | c.1103A>T (p.Asp368Val)
| |
17 | g.42404757T>C | CA399582454 | CAVIN1 | c.1103A>G (p.Asp368Gly)
| gnomAD v4 |
17 | g.42404757T>G | CA399582452 | CAVIN1 | c.1103A>C (p.Asp368Ala)
| |
17 | g.42404757_42404758insTGGCTT | CA2809521821 | CAVIN1 | c.1103_1104insAGCCAA (p.Asp368delinsGluAlaAsn)
| |
17 | g.42404761_42404844del | CA2637956459 | CAVIN1 | c.1020_1103del (p.Glu340_Pro367del)
| gnomAD v4 |
17 | g.42404758C>A | CA399582460 | CAVIN1 | c.1102G>T (p.Asp368Tyr)
| gnomAD v4 |
17 | g.42404758C= | CA2260466792 | CAVIN1 | c.1102G= (p.Asp368=)
| |
17 | g.42404758C>G | CA399582463 | CAVIN1 | c.1102G>C (p.Asp368His)
| |
17 | g.42404758C>T | CA8575749 | CAVIN1 | c.1102G>A (p.Asp368Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404759G>A | CA500215480 | CAVIN1 | c.1101C>T (p.Pro367=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404759G>C | CA500215478 | CAVIN1 | c.1101C>G (p.Pro367=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404759G= | CA2260466793 | CAVIN1 | c.1101C= (p.Pro367=)
| |
17 | g.42404759G>T | CA500215479 | CAVIN1 | c.1101C>A (p.Pro367=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404762del | CA2637956460 | CAVIN1 | c.1101del (p.Asp368ThrfsTer?)
| gnomAD v4 |
17 | g.42404760G>A | CA399582466 | CAVIN1 | c.1100C>T (p.Pro367Leu)
| |
17 | g.42404760G>C | CA399582468 | CAVIN1 | c.1100C>G (p.Pro367Arg)
| |
17 | g.42404760G= | CA2260466794 | CAVIN1 | c.1100C= (p.Pro367=)
| |
17 | g.42404760G>T | CA290750300 | CAVIN1 | c.1100C>A (p.Pro367His)
| dbSNP |
17 | g.42404760_42404761insT | CA2809521822 | CAVIN1 | c.1099_1100insA (p.Pro367HisfsTer?)
| |
17 | g.42404761G>A | CA8575750 | CAVIN1 | c.1099C>T (p.Pro367Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404761G>C | CA399582475 | CAVIN1 | c.1099C>G (p.Pro367Ala)
| gnomAD v4 |
17 | g.42404761G= | CA2260466795 | CAVIN1 | c.1099C= (p.Pro367=)
| |
17 | g.42404761G>T | CA399582477 | CAVIN1 | c.1099C>A (p.Pro367Thr)
| gnomAD v4 |
17 | g.42404762G>A | CA500215481 | CAVIN1 | c.1098C>T (p.Ser366=)
| gnomAD v4 |
17 | g.42404762G>C | CA399582480 | CAVIN1 | c.1098C>G (p.Ser366Arg)
| |
17 | g.42404762G>T | CA399582482 | CAVIN1 | c.1098C>A (p.Ser366Arg)
| gnomAD v4 |
17 | g.42404763C>A | CA399582483 | CAVIN1 | c.1097G>T (p.Ser366Ile)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404763C= | CA2260466796 | CAVIN1 | c.1097G= (p.Ser366=)
| |
17 | g.42404763C>G | CA399582486 | CAVIN1 | c.1097G>C (p.Ser366Thr)
| |
17 | g.42404763C>T | CA399582488 | CAVIN1 | c.1097G>A (p.Ser366Asn)
| |
17 | g.42404764T>A | CA399582490 | CAVIN1 | c.1096A>T (p.Ser366Cys)
| |
17 | g.42404764T>C | CA399582494 | CAVIN1 | c.1096A>G (p.Ser366Gly)
| gnomAD v4 |
17 | g.42404764T>G | CA399582492 | CAVIN1 | c.1096A>C (p.Ser366Arg)
| |
17 | g.42404765G>A | CA500215482 | CAVIN1 | c.1095C>T (p.Ser365=)
| gnomAD v4 |
17 | g.42404765G>C | CA399582496 | CAVIN1 | c.1095C>G (p.Ser365Arg)
| |
17 | g.42404765G>T | CA399582498 | CAVIN1 | c.1095C>A (p.Ser365Arg)
| gnomAD v4 |
17 | g.42404766C>A | CA399582499 | CAVIN1 | c.1094G>T (p.Ser365Ile)
| gnomAD v4 COSMIC |
17 | g.42404766C>G | CA399582501 | CAVIN1 | c.1094G>C (p.Ser365Thr)
| |
17 | g.42404766C>T | CA399582503 | CAVIN1 | c.1094G>A (p.Ser365Asn)
| gnomAD v4 |
17 | g.42404767T>A | CA399582505 | CAVIN1 | c.1093A>T (p.Ser365Cys)
| |
17 | g.42404767T>C | CA399582507 | CAVIN1 | c.1093A>G (p.Ser365Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404767T>G | CA399582509 | CAVIN1 | c.1093A>C (p.Ser365Arg)
| |
17 | g.42404767T= | CA2260466797 | CAVIN1 | c.1093A= (p.Ser365=)
| |
17 | g.42404768C>A | CA500215484 | CAVIN1 | c.1092G>T (p.Gly364=)
| |
17 | g.42404768C>G | CA500215485 | CAVIN1 | c.1092G>C (p.Gly364=)
| |
17 | g.42404768C>T | CA500215483 | CAVIN1 | c.1092G>A (p.Gly364=)
| gnomAD v4 |
17 | g.42404769_42404798del | CA2637956461 | CAVIN1 | c.1063_1092del (p.Arg355_Gly364del)
| gnomAD v4 |
17 | g.42404768_42404799delinsCCCGCGCCGCAGGTCGCCGGCCTCCCCGCGCT | CA2260466798 | CAVIN1 | c.1061_1092delinsAGCGCGGGGAGGCCGGCGACCTGCGGCGCGGG (p.Glu354=)
| |
17 | g.42404769C>A | CA399582511 | CAVIN1 | c.1091G>T (p.Gly364Val)
| gnomAD v4 |
17 | g.42404769C= | CA2260466799 | CAVIN1 | c.1091G= (p.Gly364=)
| |
17 | g.42404769C>G | CA399582513 | CAVIN1 | c.1091G>C (p.Gly364Ala)
| |
17 | g.42404769C>T | CA290750306 | CAVIN1 | c.1091G>A (p.Gly364Glu)
| dbSNP gnomAD v4 |
17 | g.42404778_42404808del | CA626218338 | CAVIN1 | c.1061_1091del (p.Glu354GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404770C>A | CA399582516 | CAVIN1 | c.1090G>T (p.Gly364Trp)
| gnomAD v4 |
17 | g.42404770C= | CA2260466800 | CAVIN1 | c.1090G= (p.Gly364=)
| |
17 | g.42404770C>G | CA399582520 | CAVIN1 | c.1090G>C (p.Gly364Arg)
| gnomAD v4 |
17 | g.42404770C>T | CA399582518 | CAVIN1 | c.1090G>A (p.Gly364Arg)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404771G>A | CA500215486 | CAVIN1 | c.1089C>T (p.Arg363=)
| dbSNP |
17 | g.42404771G>C | CA500215487 | CAVIN1 | c.1089C>G (p.Arg363=)
| dbSNP |
17 | g.42404771G= | CA2260466801 | CAVIN1 | c.1089C= (p.Arg363=)
| |
17 | g.42404771G>T | CA500215488 | CAVIN1 | c.1089C>A (p.Arg363=)
| gnomAD v4 |
17 | g.42404772C>A | CA399582523 | CAVIN1 | c.1088G>T (p.Arg363Leu)
| gnomAD v4 |
17 | g.42404772C= | CA2260466802 | CAVIN1 | c.1088G= (p.Arg363=)
| |
17 | g.42404772C>G | CA399582526 | CAVIN1 | c.1088G>C (p.Arg363Pro)
| |
17 | g.42404772C>T | CA290750307 | CAVIN1 | c.1088G>A (p.Arg363His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404773G>A | CA399582528 | CAVIN1 | c.1087C>T (p.Arg363Cys)
| ClinVar gnomAD v4 |
17 | g.42404773G>C | CA399582532 | CAVIN1 | c.1087C>G (p.Arg363Gly)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404773G= | CA2260466803 | CAVIN1 | c.1087C= (p.Arg363=)
| |
17 | g.42404773G>T | CA399582530 | CAVIN1 | c.1087C>A (p.Arg363Ser)
| gnomAD v4 |
17 | g.42404774C>A | CA500215489 | CAVIN1 | c.1086G>T (p.Arg362=)
| gnomAD v4 |
17 | g.42404774C>G | CA500215491 | CAVIN1 | c.1086G>C (p.Arg362=)
| |
17 | g.42404774C>T | CA500215490 | CAVIN1 | c.1086G>A (p.Arg362=)
| |
17 | g.42404775C>A | CA399582534 | CAVIN1 | c.1085G>T (p.Arg362Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404775C= | CA2260466804 | CAVIN1 | c.1085G= (p.Arg362=)
| |
17 | g.42404775C>G | CA399582536 | CAVIN1 | c.1085G>C (p.Arg362Pro)
| |
17 | g.42404775C>T | CA399582538 | CAVIN1 | c.1085G>A (p.Arg362Gln)
| gnomAD v4 |
17 | g.42404776G>A | CA399582541 | CAVIN1 | c.1084C>T (p.Arg362Trp)
| dbSNP gnomAD v3 gnomAD v4 |
17 | g.42404776G>C | CA399582542 | CAVIN1 | c.1084C>G (p.Arg362Gly)
| dbSNP gnomAD v4 |
17 | g.42404776G= | CA2260466805 | CAVIN1 | c.1084C= (p.Arg362=)
| |
17 | g.42404776G>T | CA500215492 | CAVIN1 | c.1084C>A (p.Arg362=)
| gnomAD v4 |
17 | g.42404777C>A | CA500215495 | CAVIN1 | c.1083G>T (p.Leu361=)
| |
17 | g.42404777C>G | CA500215493 | CAVIN1 | c.1083G>C (p.Leu361=)
| |
17 | g.42404777C>T | CA500215494 | CAVIN1 | c.1083G>A (p.Leu361=)
| gnomAD v4 |
17 | g.42404778A>C | CA399582545 | CAVIN1 | c.1082T>G (p.Leu361Arg)
| |
17 | g.42404778A>G | CA399582547 | CAVIN1 | c.1082T>C (p.Leu361Pro)
| gnomAD v4 |
17 | g.42404778A>T | CA399582548 | CAVIN1 | c.1082T>A (p.Leu361Gln)
| |
17 | g.42404779G>A | CA500215496 | CAVIN1 | c.1081C>T (p.Leu361=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404779G>C | CA399582551 | CAVIN1 | c.1081C>G (p.Leu361Val)
| |
17 | g.42404779G= | CA2260466806 | CAVIN1 | c.1081C= (p.Leu361=)
| |
17 | g.42404779G>T | CA399582553 | CAVIN1 | c.1081C>A (p.Leu361Met)
| |
17 | g.42404780G>A | CA8575751 | CAVIN1 | c.1080C>T (p.Asp360=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404780G>C | CA399582557 | CAVIN1 | c.1080C>G (p.Asp360Glu)
| |
17 | g.42404780G= | CA2260466807 | CAVIN1 | c.1080C= (p.Asp360=)
| |
17 | g.42404780G>T | CA399582555 | CAVIN1 | c.1080C>A (p.Asp360Glu)
| |
17 | g.42404781T>A | CA399582560 | CAVIN1 | c.1079A>T (p.Asp360Val)
| |
17 | g.42404781T>C | CA399582562 | CAVIN1 | c.1079A>G (p.Asp360Gly)
| gnomAD v3 gnomAD v4 |
17 | g.42404781T>G | CA399582563 | CAVIN1 | c.1079A>C (p.Asp360Ala)
| |
17 | g.42404782C>A | CA399582564 | CAVIN1 | c.1078G>T (p.Asp360Tyr)
| dbSNP gnomAD v4 |
17 | g.42404782C= | CA2260466808 | CAVIN1 | c.1078G= (p.Asp360=)
| |
17 | g.42404782C>G | CA399582565 | CAVIN1 | c.1078G>C (p.Asp360His)
| |
17 | g.42404782C>T | CA399582567 | CAVIN1 | c.1078G>A (p.Asp360Asn)
| |
17 | g.42404783del | CA2637956462 | CAVIN1 | c.1077del (p.Asp360ThrfsTer?)
| gnomAD v4 |
17 | g.42404783G>A | CA290750320 | CAVIN1 | c.1077C>T (p.Gly359=)
| dbSNP gnomAD v2 gnomAD v4 |
17 | g.42404783G>C | CA500215497 | CAVIN1 | c.1077C>G (p.Gly359=)
| |
17 | g.42404783G= | CA2260466809 | CAVIN1 | c.1077C= (p.Gly359=)
| |
17 | g.42404783G>T | CA8575752 | CAVIN1 | c.1077C>A (p.Gly359=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404783_42404784insGC | CA2572730115 | CAVIN1 | c.1076_1077insGC (p.Asp360ProfsTer?)
| |
17 | g.42404784C>A | CA399582571 | CAVIN1 | c.1076G>T (p.Gly359Val)
| |
17 | g.42404784C= | CA2260466810 | CAVIN1 | c.1076G= (p.Gly359=)
| |
17 | g.42404784C>G | CA399582573 | CAVIN1 | c.1076G>C (p.Gly359Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404784C>T | CA399582574 | CAVIN1 | c.1076G>A (p.Gly359Asp)
| |
17 | g.42404784_42404785insTG | CA2594068999 | CAVIN1 | c.1075_1076insCA (p.Gly359AlafsTer?)
| gnomAD v3 gnomAD v4 |
17 | g.42404784_42404785insTGCGCTTGATA | CA2637956463 | CAVIN1 | c.1075_1076insTATCAAGCGCA (p.Gly359ValfsTer?)
| gnomAD v4 |
17 | g.42404785C>A | CA399582580 | CAVIN1 | c.1075G>T (p.Gly359Cys)
| |
17 | g.42404785C= | CA2260466811 | CAVIN1 | c.1075G= (p.Gly359=)
| |
17 | g.42404785C>G | CA399582578 | CAVIN1 | c.1075G>C (p.Gly359Arg)
| gnomAD v4 |
17 | g.42404785C>T | CA399582576 | CAVIN1 | c.1075G>A (p.Gly359Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404789_42404824del | CA2637956464 | CAVIN1 | c.1040_1075del (p.Asp347_Ala358del)
| gnomAD v4 |
17 | g.42404786G>A | CA500215498 | CAVIN1 | c.1074C>T (p.Ala358=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42404786G>C | CA500215500 | CAVIN1 | c.1074C>G (p.Ala358=)
| |
17 | g.42404786G= | CA2260466812 | CAVIN1 | c.1074C= (p.Ala358=)
| |
17 | g.42404786G>T | CA500215499 | CAVIN1 | c.1074C>A (p.Ala358=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42404786_42404787del | CA2564259542 | CAVIN1 | c.1073_1074del (p.Ala358GlyfsTer?)
| |
17 | g.42404786_42404787insC | CA2637956465 | CAVIN1 | c.1073_1074insG (p.Gly359ArgfsTer?)
| gnomAD v4 |
17 | g.42404787G>A | CA399582582 | CAVIN1 | c.1073C>T (p.Ala358Val)
| gnomAD v4 |
17 | g.42404787G>C | CA399582583 | CAVIN1 | c.1073C>G (p.Ala358Gly)
| |
17 | g.42404787G>T | CA399582585 | CAVIN1 | c.1073C>A (p.Ala358Asp)
| gnomAD v4 |