1 | g.216324241A= | CA1220652451 | USH2A | c.1255T= (p.Cys419=)
| |
1 | g.216324241A>C | CA344911624 | USH2A | c.1255T>G (p.Cys419Gly)
| |
1 | g.216324241A>G | CA1396564 | USH2A | c.1255T>C (p.Cys419Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324241A>T | CA344911627 | USH2A | c.1255T>A (p.Cys419Ser)
| |
1 | g.216324242A= | CA1220652452 | USH2A | c.1254T= (p.Asn418=)
| |
1 | g.216324242A>C | CA344911628 | USH2A | c.1254T>G (p.Asn418Lys)
| dbSNP |
1 | g.216324242A>G | CA423397873 | USH2A | c.1254T>C (p.Asn418=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324242A>T | CA344911629 | USH2A | c.1254T>A (p.Asn418Lys)
| |
1 | g.216324243T>A | CA344911632 | USH2A | c.1253A>T (p.Asn418Ile)
| |
1 | g.216324243T>C | CA344911637 | USH2A | c.1253A>G (p.Asn418Ser)
| |
1 | g.216324243T>G | CA344911633 | USH2A | c.1253A>C (p.Asn418Thr)
| |
1 | g.216324244T>A | CA344911639 | USH2A | c.1252A>T (p.Asn418Tyr)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324244T>C | CA344911640 | USH2A | c.1252A>G (p.Asn418Asp)
| |
1 | g.216324244T>G | CA344911645 | USH2A | c.1252A>C (p.Asn418His)
| |
1 | g.216324245C>A | CA344911647 | USH2A | c.1251G>T (p.Arg417Ser)
| |
1 | g.216324245C= | CA1220652453 | USH2A | c.1251G= (p.Arg417=)
| |
1 | g.216324245C>G | CA344911649 | USH2A | c.1251G>C (p.Arg417Ser)
| |
1 | g.216324245C>T | CA37898322 | USH2A | c.1251G>A (p.Arg417=)
| ClinVar dbSNP gnomAD v2 |
1 | g.216324246C>A | CA344911651 | USH2A | c.1250G>T (p.Arg417Met)
| |
1 | g.216324246C>G | CA344911653 | USH2A | c.1250G>C (p.Arg417Thr)
| |
1 | g.216324246C>T | CA344911655 | USH2A | c.1250G>A (p.Arg417Lys)
| COSMIC COSMIC COSMIC |
1 | g.216324247T>A | CA344911656 | USH2A | c.1249A>T (p.Arg417Trp)
| |
1 | g.216324247T>C | CA344911657 | USH2A | c.1249A>G (p.Arg417Gly)
| |
1 | g.216324247T>G | CA423397874 | USH2A | c.1249A>C (p.Arg417=)
| dbSNP |
1 | g.216324247T= | CA1220652454 | USH2A | c.1249A= (p.Arg417=)
| |
1 | g.216324248G>A | CA423397875 | USH2A | c.1248C>T (p.Ala416=)
| |
1 | g.216324248G>C | CA423397876 | USH2A | c.1248C>G (p.Ala416=)
| |
1 | g.216324248G>T | CA423397877 | USH2A | c.1248C>A (p.Ala416=)
| |
1 | g.216324249G>A | CA344911658 | USH2A | c.1247C>T (p.Ala416Val)
| |
1 | g.216324249G>C | CA344911659 | USH2A | c.1247C>G (p.Ala416Gly)
| |
1 | g.216324249G>T | CA344911660 | USH2A | c.1247C>A (p.Ala416Asp)
| |
1 | g.216324250C>A | CA1396565 | USH2A | c.1246G>T (p.Ala416Ser)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.216324250C= | CA1142955932 | USH2A | c.1246G= (p.Ala416=)
| |
1 | g.216324250C>G | CA344911664 | USH2A | c.1246G>C (p.Ala416Pro)
| gnomAD v4 |
1 | g.216324250C>T | CA1396566 | USH2A | c.1246G>A (p.Ala416Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324251A>C | CA344911666 | USH2A | c.1245T>G (p.Phe415Leu)
| |
1 | g.216324251A>G | CA423397879 | USH2A | c.1245T>C (p.Phe415=)
| |
1 | g.216324251A>T | CA344911667 | USH2A | c.1245T>A (p.Phe415Leu)
| |
1 | g.216324252A>C | CA344911668 | USH2A | c.1244T>G (p.Phe415Cys)
| |
1 | g.216324252A>G | CA344911669 | USH2A | c.1244T>C (p.Phe415Ser)
| |
1 | g.216324252A>T | CA344911670 | USH2A | c.1244T>A (p.Phe415Tyr)
| |
1 | g.216324253A>C | CA344911671 | USH2A | c.1243T>G (p.Phe415Val)
| |
1 | g.216324253A>G | CA344911673 | USH2A | c.1243T>C (p.Phe415Leu)
| |
1 | g.216324253A>T | CA344911675 | USH2A | c.1243T>A (p.Phe415Ile)
| |
1 | g.216324254A>C | CA344911678 | USH2A | c.1242T>G (p.Tyr414Ter)
| |
1 | g.216324254A>G | CA423397880 | USH2A | c.1242T>C (p.Tyr414=)
| ClinVar |
1 | g.216324254A>T | CA344911684 | USH2A | c.1242T>A (p.Tyr414Ter)
| |
1 | g.216324255T>A | CA344911690 | USH2A | c.1241A>T (p.Tyr414Phe)
| |
1 | g.216324255T>C | CA344911689 | USH2A | c.1241A>G (p.Tyr414Cys)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324255T>G | CA344911687 | USH2A | c.1241A>C (p.Tyr414Ser)
| |
1 | g.216324255T= | CA1220652455 | USH2A | c.1241A= (p.Tyr414=)
| |
1 | g.216324256A>C | CA344911696 | USH2A | c.1240T>G (p.Tyr414Asp)
| |
1 | g.216324256A>G | CA344911693 | USH2A | c.1240T>C (p.Tyr414His)
| |
1 | g.216324256A>T | CA344911695 | USH2A | c.1240T>A (p.Tyr414Asn)
| gnomAD v4 |
1 | g.216324256_216324257delinsAT | CA1220652456 | USH2A | c.1239_1240delinsAT (p.Gln413=)
| |
1 | g.216324257T>A | CA344911700 | USH2A | c.1239A>T (p.Gln413His)
| |
1 | g.216324257T>C | CA423397881 | USH2A | c.1239A>G (p.Gln413=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324257T>G | CA344911703 | USH2A | c.1239A>C (p.Gln413His)
| |
1 | g.216324257T= | CA1220652457 | USH2A | c.1239A= (p.Gln413=)
| |
1 | g.216324258del | CA529004291 | USH2A | c.1239del (p.Gln413HisfsTer12)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324258T>A | CA344911705 | USH2A | c.1238A>T (p.Gln413Leu)
| |
1 | g.216324258T>C | CA344911706 | USH2A | c.1238A>G (p.Gln413Arg)
| |
1 | g.216324258T>G | CA344911707 | USH2A | c.1238A>C (p.Gln413Pro)
| |
1 | g.216324259G>A | CA344911708 | USH2A | c.1237C>T (p.Gln413Ter)
| |
1 | g.216324259G>C | CA344911710 | USH2A | c.1237C>G (p.Gln413Glu)
| |
1 | g.216324259G= | CA1220652458 | USH2A | c.1237C= (p.Gln413=)
| |
1 | g.216324259G>T | CA344911711 | USH2A | c.1237C>A (p.Gln413Lys)
| dbSNP gnomAD v4 |
1 | g.216324260C>A | CA344911712 | USH2A | c.1236G>T (p.Trp412Cys)
| |
1 | g.216324260C= | CA1220652459 | USH2A | c.1236G= (p.Trp412=)
| |
1 | g.216324260C>G | CA1396567 | USH2A | c.1236G>C (p.Trp412Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324260C>T | CA344911713 | USH2A | c.1236G>A (p.Trp412Ter)
| ClinVar dbSNP |
1 | g.216324261C>A | CA344911716 | USH2A | c.1235G>T (p.Trp412Leu)
| |
1 | g.216324261C= | CA1220652460 | USH2A | c.1235G= (p.Trp412=)
| |
1 | g.216324261C>G | CA344911714 | USH2A | c.1235G>C (p.Trp412Ser)
| |
1 | g.216324261C>T | CA344911715 | USH2A | c.1235G>A (p.Trp412Ter)
| ClinVar dbSNP |
1 | g.216324262A>C | CA344911724 | USH2A | c.1234T>G (p.Trp412Gly)
| |
1 | g.216324262A>G | CA344911726 | USH2A | c.1234T>C (p.Trp412Arg)
| gnomAD v4 |
1 | g.216324262A>T | CA344911727 | USH2A | c.1234T>A (p.Trp412Arg)
| ClinVar |
1 | g.216324263G>A | CA423397882 | USH2A | c.1233C>T (p.Asp411=)
| |
1 | g.216324263G>C | CA344911729 | USH2A | c.1233C>G (p.Asp411Glu)
| gnomAD v4 |
1 | g.216324263G>T | CA344911730 | USH2A | c.1233C>A (p.Asp411Glu)
| ClinVar |
1 | g.216324264T>A | CA344911732 | USH2A | c.1232A>T (p.Asp411Val)
| |
1 | g.216324264T>C | CA344911733 | USH2A | c.1232A>G (p.Asp411Gly)
| |
1 | g.216324264T>G | CA344911734 | USH2A | c.1232A>C (p.Asp411Ala)
| |
1 | g.216324265C>A | CA344911736 | USH2A | c.1231G>T (p.Asp411Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324265C= | CA1220652461 | USH2A | c.1231G= (p.Asp411=)
| |
1 | g.216324265C>G | CA344911738 | USH2A | c.1231G>C (p.Asp411His)
| gnomAD v4 |
1 | g.216324265C>T | CA344911741 | USH2A | c.1231G>A (p.Asp411Asn)
| gnomAD v4 |
1 | g.216324266C>A | CA344911742 | USH2A | c.1230G>T (p.Glu410Asp)
| |
1 | g.216324266C= | CA1220652462 | USH2A | c.1230G= (p.Glu410=)
| |
1 | g.216324266C>G | CA344911744 | USH2A | c.1230G>C (p.Glu410Asp)
| |
1 | g.216324266C>T | CA423397883 | USH2A | c.1230G>A (p.Glu410=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324267T>A | CA344911747 | USH2A | c.1229A>T (p.Glu410Val)
| |
1 | g.216324267T>C | CA344911749 | USH2A | c.1229A>G (p.Glu410Gly)
| |
1 | g.216324267T>G | CA344911746 | USH2A | c.1229A>C (p.Glu410Ala)
| |
1 | g.216324268C>A | CA344911754 | USH2A | c.1228G>T (p.Glu410Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324268C= | CA1220652463 | USH2A | c.1228G= (p.Glu410=)
| |
1 | g.216324268C>G | CA344911757 | USH2A | c.1228G>C (p.Glu410Gln)
| |
1 | g.216324268C>T | CA344911755 | USH2A | c.1228G>A (p.Glu410Lys)
| dbSNP |
1 | g.216324269C>A | CA344911759 | USH2A | c.1227G>T (p.Trp409Cys)
| |
1 | g.216324269C= | CA1144229210 | USH2A | c.1227G= (p.Trp409=)
| |
1 | g.216324269C>G | CA262075 | USH2A | c.1227G>C (p.Trp409Cys)
| ClinVar dbSNP |
1 | g.216324269C>T | CA16603533 | USH2A | c.1227G>A (p.Trp409Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324270C>A | CA344911763 | USH2A | c.1226G>T (p.Trp409Leu)
| |
1 | g.216324270C= | CA1220652464 | USH2A | c.1226G= (p.Trp409=)
| |
1 | g.216324270C>G | CA344911766 | USH2A | c.1226G>C (p.Trp409Ser)
| |
1 | g.216324270C>T | CA344911767 | USH2A | c.1226G>A (p.Trp409Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216324271A= | CA1220652465 | USH2A | c.1225T= (p.Trp409=)
| |
1 | g.216324271A>C | CA344911768 | USH2A | c.1225T>G (p.Trp409Gly)
| |
1 | g.216324271A>G | CA344911769 | USH2A | c.1225T>C (p.Trp409Arg)
| dbSNP |
1 | g.216324271A>T | CA344911770 | USH2A | c.1225T>A (p.Trp409Arg)
| |
1 | g.216324272A>C | CA344911771 | USH2A | c.1224T>G (p.Asp408Glu)
| gnomAD v4 |
1 | g.216324272A>G | CA423397884 | USH2A | c.1224T>C (p.Asp408=)
| |
1 | g.216324272A>T | CA344911773 | USH2A | c.1224T>A (p.Asp408Glu)
| |
1 | g.216324273T>A | CA344911780 | USH2A | c.1223A>T (p.Asp408Val)
| |
1 | g.216324273T>C | CA344911779 | USH2A | c.1223A>G (p.Asp408Gly)
| dbSNP gnomAD v2 |
1 | g.216324273T>G | CA344911776 | USH2A | c.1223A>C (p.Asp408Ala)
| |
1 | g.216324273T= | CA1220652466 | USH2A | c.1223A= (p.Asp408=)
| |
1 | g.216324274C>A | CA344911781 | USH2A | c.1222G>T (p.Asp408Tyr)
| |
1 | g.216324274C= | CA1220652467 | USH2A | c.1222G= (p.Asp408=)
| |
1 | g.216324274C>G | CA344911782 | USH2A | c.1222G>C (p.Asp408His)
| |
1 | g.216324274C>T | CA344911783 | USH2A | c.1222G>A (p.Asp408Asn)
| dbSNP COSMIC COSMIC COSMIC |
1 | g.216324275T>A | CA344911784 | USH2A | c.1221A>T (p.Leu407Phe)
| |
1 | g.216324275T>C | CA423397885 | USH2A | c.1221A>G (p.Leu407=)
| |
1 | g.216324275T>G | CA344911791 | USH2A | c.1221A>C (p.Leu407Phe)
| |
1 | g.216324276A= | CA1220652468 | USH2A | c.1220T= (p.Leu407=)
| |
1 | g.216324276A>C | CA344911793 | USH2A | c.1220T>G (p.Leu407Ter)
| |
1 | g.216324276A>G | CA1396568 | USH2A | c.1220T>C (p.Leu407Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.216324276A>T | CA344911797 | USH2A | c.1220T>A (p.Leu407Ter)
| |
1 | g.216324277A>C | CA344911799 | USH2A | c.1219T>G (p.Leu407Val)
| |
1 | g.216324277A>G | CA423397886 | USH2A | c.1219T>C (p.Leu407=)
| |
1 | g.216324277A>T | CA344911800 | USH2A | c.1219T>A (p.Leu407Ile)
| |
1 | g.216324278A= | CA1220652469 | USH2A | c.1218T= (p.Ser406=)
| |
1 | g.216324278A>C | CA344911801 | USH2A | c.1218T>G (p.Ser406Arg)
| |
1 | g.216324278A>G | CA423397887 | USH2A | c.1218T>C (p.Ser406=)
| ClinVar dbSNP |
1 | g.216324278A>T | CA344911803 | USH2A | c.1218T>A (p.Ser406Arg)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324279C>A | CA344911810 | USH2A | c.1217G>T (p.Ser406Ile)
| |
1 | g.216324279C>G | CA344911809 | USH2A | c.1217G>C (p.Ser406Thr)
| |
1 | g.216324279C>T | CA344911806 | USH2A | c.1217G>A (p.Ser406Asn)
| |
1 | g.216324280T>A | CA344911812 | USH2A | c.1216A>T (p.Ser406Cys)
| |
1 | g.216324280T>C | CA344911814 | USH2A | c.1216A>G (p.Ser406Gly)
| ClinVar |
1 | g.216324280T>G | CA344911816 | USH2A | c.1216A>C (p.Ser406Arg)
| |
1 | g.216324281_216324282del | CA2586968401 | USH2A | c.1215_1216del (p.Asn405LysfsTer29)
| |
1 | g.216324281A= | CA1148246689 | USH2A | c.1215T= (p.Asn405=)
| |
1 | g.216324281A>C | CA344911819 | USH2A | c.1215T>G (p.Asn405Lys)
| |
1 | g.216324281A>G | CA1396569 | USH2A | c.1215T>C (p.Asn405=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324281A>T | CA344911821 | USH2A | c.1215T>A (p.Asn405Lys)
| |
1 | g.216324281_216324282delinsAT | CA1220652470 | USH2A | c.1214_1215delinsAT (p.Asn405=)
| |
1 | g.216324282T>A | CA344911824 | USH2A | c.1214A>T (p.Asn405Ile)
| ClinVar gnomAD v4 |
1 | g.216324282T>C | CA344911826 | USH2A | c.1214A>G (p.Asn405Ser)
| gnomAD v4 |
1 | g.216324282T>G | CA344911828 | USH2A | c.1214A>C (p.Asn405Thr)
| |
1 | g.216324285del | CA274501 | USH2A | c.1214del (p.Asn405IlefsTer3)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324283T>A | CA344911830 | USH2A | c.1213A>T (p.Asn405Tyr)
| |
1 | g.216324283T>C | CA1396570 | USH2A | c.1213A>G (p.Asn405Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324283T>G | CA344911831 | USH2A | c.1213A>C (p.Asn405His)
| gnomAD v4 |
1 | g.216324283T= | CA1144048215 | USH2A | c.1213A= (p.Asn405=)
| |
1 | g.216324284T>A | CA344911835 | USH2A | c.1212A>T (p.Glu404Asp)
| |
1 | g.216324284T>C | CA423397888 | USH2A | c.1212A>G (p.Glu404=)
| |
1 | g.216324284T>G | CA344911834 | USH2A | c.1212A>C (p.Glu404Asp)
| |
1 | g.216324285T>A | CA344911837 | USH2A | c.1211A>T (p.Glu404Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324285T>C | CA344911839 | USH2A | c.1211A>G (p.Glu404Gly)
| |
1 | g.216324285T>G | CA344911841 | USH2A | c.1211A>C (p.Glu404Ala)
| |
1 | g.216324285T= | CA1220652471 | USH2A | c.1211A= (p.Glu404=)
| |
1 | g.216324286C>A | CA344911844 | USH2A | c.1210G>T (p.Glu404Ter)
| gnomAD v3 gnomAD v4 |
1 | g.216324286C= | CA1220652472 | USH2A | c.1210G= (p.Glu404=)
| |
1 | g.216324286C>G | CA344911848 | USH2A | c.1210G>C (p.Glu404Gln)
| gnomAD v4 |
1 | g.216324286C>T | CA1396571 | USH2A | c.1210G>A (p.Glu404Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324287C>A | CA344911851 | USH2A | c.1209G>T (p.Lys403Asn)
| |
1 | g.216324287C= | CA1149075946 | USH2A | c.1209G= (p.Lys403=)
| |
1 | g.216324287C>G | CA344911852 | USH2A | c.1209G>C (p.Lys403Asn)
| |
1 | g.216324287C>T | CA1396572 | USH2A | c.1209G>A (p.Lys403=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324291_216324293del | CA2740090871 | USH2A | c.1207_1209del (p.Lys403del)
| ClinVar |
1 | g.216324288T>A | CA344911854 | USH2A | c.1208A>T (p.Lys403Met)
| |
1 | g.216324288T>C | CA344911857 | USH2A | c.1208A>G (p.Lys403Arg)
| |
1 | g.216324288T>G | CA344911859 | USH2A | c.1208A>C (p.Lys403Thr)
| |
1 | g.216324289T>A | CA344911869 | USH2A | c.1207A>T (p.Lys403Ter)
| |
1 | g.216324289T>C | CA344911864 | USH2A | c.1207A>G (p.Lys403Glu)
| gnomAD v4 |
1 | g.216324289T>G | CA344911862 | USH2A | c.1207A>C (p.Lys403Gln)
| |
1 | g.216324290C>A | CA344911872 | USH2A | c.1206G>T (p.Lys402Asn)
| ClinVar |
1 | g.216324290C>G | CA344911874 | USH2A | c.1206G>C (p.Lys402Asn)
| |
1 | g.216324290C>T | CA423397889 | USH2A | c.1206G>A (p.Lys402=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324291T>A | CA344911878 | USH2A | c.1205A>T (p.Lys402Met)
| |
1 | g.216324291T>C | CA1396573 | USH2A | c.1205A>G (p.Lys402Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324291T>G | CA1396574 | USH2A | c.1205A>C (p.Lys402Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324291T= | CA1220652473 | USH2A | c.1205A= (p.Lys402=)
| |
1 | g.216324292T>A | CA344911884 | USH2A | c.1204A>T (p.Lys402Ter)
| |
1 | g.216324292T>C | CA344911887 | USH2A | c.1204A>G (p.Lys402Glu)
| |
1 | g.216324292T>G | CA344911889 | USH2A | c.1204A>C (p.Lys402Gln)
| |
1 | g.216324293C>A | CA344911892 | USH2A | c.1203G>T (p.Arg401Ser)
| |
1 | g.216324293C= | CA1220652474 | USH2A | c.1203G= (p.Arg401=)
| |
1 | g.216324293C>G | CA344911894 | USH2A | c.1203G>C (p.Arg401Ser)
| |
1 | g.216324293C>T | CA423397890 | USH2A | c.1203G>A (p.Arg401=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324294C>A | CA344911897 | USH2A | c.1202G>T (p.Arg401Met)
| |
1 | g.216324294C>G | CA344911899 | USH2A | c.1202G>C (p.Arg401Thr)
| |
1 | g.216324294C>T | CA344911901 | USH2A | c.1202G>A (p.Arg401Lys)
| gnomAD v4 |
1 | g.216324295T>A | CA344911904 | USH2A | c.1201A>T (p.Arg401Trp)
| |
1 | g.216324295T>C | CA344911906 | USH2A | c.1201A>G (p.Arg401Gly)
| |
1 | g.216324295T>G | CA423397891 | USH2A | c.1201A>C (p.Arg401=)
| |
1 | g.216324296T>A | CA344911909 | USH2A | c.1200A>T (p.Gln400His)
| |
1 | g.216324296T>C | CA1396575 | USH2A | c.1200A>G (p.Gln400=)
| ClinVar dbSNP ExAC gnomAD v2 |
1 | g.216324296T>G | CA344911911 | USH2A | c.1200A>C (p.Gln400His)
| |
1 | g.216324296T= | CA1148566065 | USH2A | c.1200A= (p.Gln400=)
| |
1 | g.216324297T>A | CA344911916 | USH2A | c.1199A>T (p.Gln400Leu)
| |
1 | g.216324297T>C | CA1396576 | USH2A | c.1199A>G (p.Gln400Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324297T>G | CA344911915 | USH2A | c.1199A>C (p.Gln400Pro)
| |
1 | g.216324297T= | CA1220652475 | USH2A | c.1199A= (p.Gln400=)
| |
1 | g.216324297_216324298del | CA2747737984 | USH2A | c.1198_1199del (p.Gln400LysfsTer6)
| |
1 | g.216324298G>A | CA344911918 | USH2A | c.1198C>T (p.Gln400Ter)
| |
1 | g.216324298G>C | CA344911920 | USH2A | c.1198C>G (p.Gln400Glu)
| |
1 | g.216324298G>T | CA344911921 | USH2A | c.1198C>A (p.Gln400Lys)
| |
1 | g.216324299A= | CA1220652476 | USH2A | c.1197T= (p.Ile399=)
| |
1 | g.216324299A>C | CA344911924 | USH2A | c.1197T>G (p.Ile399Met)
| |
1 | g.216324299A>G | CA1396577 | USH2A | c.1197T>C (p.Ile399=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324299A>T | CA423397892 | USH2A | c.1197T>A (p.Ile399=)
| |
1 | g.216324300A>C | CA344911928 | USH2A | c.1196T>G (p.Ile399Ser)
| |
1 | g.216324300A>G | CA344911930 | USH2A | c.1196T>C (p.Ile399Thr)
| |
1 | g.216324300A>T | CA344911932 | USH2A | c.1196T>A (p.Ile399Asn)
| |
1 | g.216324301T>A | CA344911935 | USH2A | c.1195A>T (p.Ile399Phe)
| COSMIC |
1 | g.216324301T>C | CA344911937 | USH2A | c.1195A>G (p.Ile399Val)
| |
1 | g.216324301T>G | CA344911939 | USH2A | c.1195A>C (p.Ile399Leu)
| |
1 | g.216324302C>A | CA344911943 | USH2A | c.1194G>T (p.Arg398Ser)
| |
1 | g.216324302C= | CA1220652477 | USH2A | c.1194G= (p.Arg398=)
| |
1 | g.216324302C>G | CA344911945 | USH2A | c.1194G>C (p.Arg398Ser)
| |
1 | g.216324302C>T | CA423397893 | USH2A | c.1194G>A (p.Arg398=)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324303C>A | CA344911949 | USH2A | c.1193G>T (p.Arg398Met)
| ClinVar dbSNP |
1 | g.216324303C= | CA1220652478 | USH2A | c.1193G= (p.Arg398=)
| |
1 | g.216324303C>G | CA344911951 | USH2A | c.1193G>C (p.Arg398Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324303C>T | CA344911947 | USH2A | c.1193G>A (p.Arg398Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324304T>A | CA344911953 | USH2A | c.1192A>T (p.Arg398Trp)
| |
1 | g.216324304T>C | CA344911955 | USH2A | c.1192A>G (p.Arg398Gly)
| |
1 | g.216324304T>G | CA423397895 | USH2A | c.1192A>C (p.Arg398=)
| |
1 | g.216324305T>A | CA423397896 | USH2A | c.1191A>T (p.Ile397=)
| |
1 | g.216324305T>C | CA1396578 | USH2A | c.1191A>G (p.Ile397Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324305T>G | CA423397897 | USH2A | c.1191A>C (p.Ile397=)
| |
1 | g.216324305T= | CA1220652479 | USH2A | c.1191A= (p.Ile397=)
| |
1 | g.216324306A= | CA1220652480 | USH2A | c.1190T= (p.Ile397=)
| |
1 | g.216324306A>C | CA344911959 | USH2A | c.1190T>G (p.Ile397Arg)
| |
1 | g.216324306A>G | CA344911961 | USH2A | c.1190T>C (p.Ile397Thr)
| dbSNP |
1 | g.216324306A>T | CA344911963 | USH2A | c.1190T>A (p.Ile397Lys)
| ClinVar dbSNP |
1 | g.216324307T>A | CA344911965 | USH2A | c.1189A>T (p.Ile397Leu)
| |
1 | g.216324307T>C | CA37898345 | USH2A | c.1189A>G (p.Ile397Val)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216324307T>G | CA344911968 | USH2A | c.1189A>C (p.Ile397Leu)
| |
1 | g.216324307T= | CA1220652481 | USH2A | c.1189A= (p.Ile397=)
| |
1 | g.216324308T>A | CA344911972 | USH2A | c.1188A>T (p.Glu396Asp)
| |
1 | g.216324308T>C | CA423397898 | USH2A | c.1188A>G (p.Glu396=)
| |
1 | g.216324308T>G | CA344911974 | USH2A | c.1188A>C (p.Glu396Asp)
| |
1 | g.216324309T>A | CA344911982 | USH2A | c.1187A>T (p.Glu396Val)
| |
1 | g.216324309T>C | CA344911979 | USH2A | c.1187A>G (p.Glu396Gly)
| |
1 | g.216324309T>G | CA344911976 | USH2A | c.1187A>C (p.Glu396Ala)
| |
1 | g.216324310C>A | CA344911985 | USH2A | c.1186G>T (p.Glu396Ter)
| |
1 | g.216324310C>G | CA344911987 | USH2A | c.1186G>C (p.Glu396Gln)
| |
1 | g.216324310C>T | CA344911989 | USH2A | c.1186G>A (p.Glu396Lys)
| COSMIC COSMIC COSMIC |
1 | g.216324311C>A | CA423397899 | USH2A | c.1185G>T (p.Thr395=)
| |
1 | g.216324311C= | CA1220652482 | USH2A | c.1185G= (p.Thr395=)
| |
1 | g.216324311C>G | CA423397900 | USH2A | c.1185G>C (p.Thr395=)
| |
1 | g.216324311C>T | CA37898347 | USH2A | c.1185G>A (p.Thr395=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324312G>A | CA1396579 | USH2A | c.1184C>T (p.Thr395Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324312G>C | CA344911995 | USH2A | c.1184C>G (p.Thr395Arg)
| |
1 | g.216324312G= | CA1142125457 | USH2A | c.1184C= (p.Thr395=)
| |
1 | g.216324312G>T | CA344911998 | USH2A | c.1184C>A (p.Thr395Lys)
| |
1 | g.216324313T>A | CA344912001 | USH2A | c.1183A>T (p.Thr395Ser)
| |
1 | g.216324313T>C | CA37898351 | USH2A | c.1183A>G (p.Thr395Ala)
| dbSNP gnomAD v4 |
1 | g.216324313T>G | CA344912006 | USH2A | c.1183A>C (p.Thr395Pro)
| |
1 | g.216324313T= | CA1220652483 | USH2A | c.1183A= (p.Thr395=)
| |
1 | g.216324314T>A | CA423397901 | USH2A | c.1182A>T (p.Pro394=)
| |
1 | g.216324314T>C | CA423397902 | USH2A | c.1182A>G (p.Pro394=)
| |
1 | g.216324314T>G | CA423397903 | USH2A | c.1182A>C (p.Pro394=)
| |
1 | g.216324315G>A | CA344912008 | USH2A | c.1181C>T (p.Pro394Leu)
| gnomAD v4 |
1 | g.216324315G>C | CA1396580 | USH2A | c.1181C>G (p.Pro394Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324315G= | CA1220652484 | USH2A | c.1181C= (p.Pro394=)
| |
1 | g.216324315G>T | CA344912013 | USH2A | c.1181C>A (p.Pro394Gln)
| |
1 | g.216324316G>A | CA344912022 | USH2A | c.1180C>T (p.Pro394Ser)
| dbSNP gnomAD v4 |
1 | g.216324316G>C | CA344912020 | USH2A | c.1180C>G (p.Pro394Ala)
| |
1 | g.216324316G= | CA1220652485 | USH2A | c.1180C= (p.Pro394=)
| |
1 | g.216324316G>T | CA344912018 | USH2A | c.1180C>A (p.Pro394Thr)
| ClinVar |
1 | g.216324317T>A | CA344912027 | USH2A | c.1179A>T (p.Gln393His)
| |
1 | g.216324317T>C | CA143271 | USH2A | c.1179A>G (p.Gln393=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324317T>G | CA344912029 | USH2A | c.1179A>C (p.Gln393His)
| |
1 | g.216324317T= | CA1142241288 | USH2A | c.1179A= (p.Gln393=)
| |
1 | g.216324318T>A | CA344912032 | USH2A | c.1178A>T (p.Gln393Leu)
| |
1 | g.216324318T>C | CA344912033 | USH2A | c.1178A>G (p.Gln393Arg)
| |
1 | g.216324318T>G | CA344912035 | USH2A | c.1178A>C (p.Gln393Pro)
| |
1 | g.216324320_216324321del | CA2698063140 | USH2A | c.1177_1178del (p.Gln393ThrfsTer13)
| dbSNP |
1 | g.216324318_216324319insATTTCCG | CA2573132654 | USH2A | c.1177_1178insCGGAAAT (p.Gln393ProfsTer16)
| dbSNP |
1 | g.216324319G>A | CA344912039 | USH2A | c.1177C>T (p.Gln393Ter)
| gnomAD v4 |
1 | g.216324319G>C | CA344912041 | USH2A | c.1177C>G (p.Gln393Glu)
| |
1 | g.216324319G>T | CA344912043 | USH2A | c.1177C>A (p.Gln393Lys)
| |
1 | g.216324320T>A | CA423397904 | USH2A | c.1176A>T (p.Pro392=)
| |
1 | g.216324320T>C | CA423397905 | USH2A | c.1176A>G (p.Pro392=)
| |
1 | g.216324320T>G | CA423397906 | USH2A | c.1176A>C (p.Pro392=)
| |
1 | g.216324320_216324326del | CA2580062223 | USH2A | c.1170_1176del (p.Ser391AsnfsTer5)
| ClinVar |
1 | g.216324321G>A | CA344912050 | USH2A | c.1175C>T (p.Pro392Leu)
| |
1 | g.216324321G>C | CA344912046 | USH2A | c.1175C>G (p.Pro392Arg)
| |
1 | g.216324321G>T | CA344912048 | USH2A | c.1175C>A (p.Pro392Gln)
| gnomAD v4 |
1 | g.216324322G>A | CA37898355 | USH2A | c.1174C>T (p.Pro392Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324322G>C | CA344912056 | USH2A | c.1174C>G (p.Pro392Ala)
| |
1 | g.216324322G= | CA1146976935 | USH2A | c.1174C= (p.Pro392=)
| |
1 | g.216324322G>T | CA344912058 | USH2A | c.1174C>A (p.Pro392Thr)
| |
1 | g.216324323A= | CA1144378885 | USH2A | c.1173T= (p.Ser391=)
| |
1 | g.216324323A>C | CA344912061 | USH2A | c.1173T>G (p.Ser391Arg)
| |
1 | g.216324323A>G | CA423397907 | USH2A | c.1173T>C (p.Ser391=)
| |
1 | g.216324323A>T | CA1396581 | USH2A | c.1173T>A (p.Ser391Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324324C>A | CA37898360 | USH2A | c.1172G>T (p.Ser391Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324324C= | CA1220652486 | USH2A | c.1172G= (p.Ser391=)
| |
1 | g.216324324C>G | CA344912070 | USH2A | c.1172G>C (p.Ser391Thr)
| |
1 | g.216324324C>T | CA344912067 | USH2A | c.1172G>A (p.Ser391Asn)
| |
1 | g.216324325T>A | CA344912073 | USH2A | c.1171A>T (p.Ser391Cys)
| |
1 | g.216324325T>C | CA344912074 | USH2A | c.1171A>G (p.Ser391Gly)
| |
1 | g.216324325T>G | CA344912077 | USH2A | c.1171A>C (p.Ser391Arg)
| |
1 | g.216324326A= | CA1220652487 | USH2A | c.1170T= (p.Phe390=)
| |
1 | g.216324326A>C | CA1396582 | USH2A | c.1170T>G (p.Phe390Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324326A>G | CA423397908 | USH2A | c.1170T>C (p.Phe390=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324326A>T | CA344912081 | USH2A | c.1170T>A (p.Phe390Leu)
| |
1 | g.216324327A= | CA1220652488 | USH2A | c.1169T= (p.Phe390=)
| |
1 | g.216324327A>C | CA344912084 | USH2A | c.1169T>G (p.Phe390Cys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216324327A>G | CA344912087 | USH2A | c.1169T>C (p.Phe390Ser)
| |
1 | g.216324327A>T | CA344912088 | USH2A | c.1169T>A (p.Phe390Tyr)
| |
1 | g.216324328A>C | CA344912089 | USH2A | c.1168T>G (p.Phe390Val)
| |
1 | g.216324328A>G | CA344912090 | USH2A | c.1168T>C (p.Phe390Leu)
| |
1 | g.216324328A>T | CA344912091 | USH2A | c.1168T>A (p.Phe390Ile)
| |
1 | g.216324329G>A | CA423397909 | USH2A | c.1167C>T (p.Phe389=)
| |
1 | g.216324329G>C | CA344912092 | USH2A | c.1167C>G (p.Phe389Leu)
| |
1 | g.216324329G= | CA1220652489 | USH2A | c.1167C= (p.Phe389=)
| |
1 | g.216324329G>T | CA344912093 | USH2A | c.1167C>A (p.Phe389Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324330A>C | CA344912094 | USH2A | c.1166T>G (p.Phe389Cys)
| |
1 | g.216324330A>G | CA344912095 | USH2A | c.1166T>C (p.Phe389Ser)
| |
1 | g.216324330A>T | CA344912096 | USH2A | c.1166T>A (p.Phe389Tyr)
| |
1 | g.216324331A>C | CA344912097 | USH2A | c.1165T>G (p.Phe389Val)
| |
1 | g.216324331A>G | CA344912098 | USH2A | c.1165T>C (p.Phe389Leu)
| |
1 | g.216324331A>T | CA344912099 | USH2A | c.1165T>A (p.Phe389Ile)
| |
1 | g.216324332C>A | CA344912100 | USH2A | c.1164G>T (p.Gln388His)
| |
1 | g.216324332C>G | CA344912101 | USH2A | c.1164G>C (p.Gln388His)
| gnomAD v4 |
1 | g.216324332C>T | CA423397910 | USH2A | c.1164G>A (p.Gln388=)
| |
1 | g.216324333T>A | CA344912102 | USH2A | c.1163A>T (p.Gln388Leu)
| |
1 | g.216324333T>C | CA344912103 | USH2A | c.1163A>G (p.Gln388Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324333T>G | CA344912104 | USH2A | c.1163A>C (p.Gln388Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324333T= | CA1220652490 | USH2A | c.1163A= (p.Gln388=)
| |
1 | g.216324334G>A | CA344912105 | USH2A | c.1162C>T (p.Gln388Ter)
| |
1 | g.216324334G>C | CA344912106 | USH2A | c.1162C>G (p.Gln388Glu)
| |
1 | g.216324334G>T | CA344912107 | USH2A | c.1162C>A (p.Gln388Lys)
| |
1 | g.216324335A>C | CA344912108 | USH2A | c.1161T>G (p.Ile387Met)
| |
1 | g.216324335A>G | CA423397912 | USH2A | c.1161T>C (p.Ile387=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324335A>T | CA423397911 | USH2A | c.1161T>A (p.Ile387=)
| |
1 | g.216324336A>C | CA344912109 | USH2A | c.1160T>G (p.Ile387Ser)
| |
1 | g.216324336A>G | CA344912110 | USH2A | c.1160T>C (p.Ile387Thr)
| ClinVar gnomAD v4 |
1 | g.216324336A>T | CA344912111 | USH2A | c.1160T>A (p.Ile387Asn)
| |
1 | g.216324336_216324337insCT | CA2747737985 | USH2A | c.1159_1160insAG (p.Ile387LysfsTer12)
| |
1 | g.216324337T>A | CA344912112 | USH2A | c.1159A>T (p.Ile387Phe)
| |
1 | g.216324337T>C | CA1396583 | USH2A | c.1159A>G (p.Ile387Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324337T>G | CA344912113 | USH2A | c.1159A>C (p.Ile387Leu)
| COSMIC COSMIC COSMIC |
1 | g.216324337T= | CA1220652491 | USH2A | c.1159A= (p.Ile387=)
| |
1 | g.216324338G>A | CA423397913 | USH2A | c.1158C>T (p.Ile386=)
| |
1 | g.216324338G>C | CA344912114 | USH2A | c.1158C>G (p.Ile386Met)
| gnomAD v4 |
1 | g.216324338G= | CA1220652492 | USH2A | c.1158C= (p.Ile386=)
| |
1 | g.216324338G>T | CA37898366 | USH2A | c.1158C>A (p.Ile386=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324339A= | CA1145402229 | USH2A | c.1157T= (p.Ile386=)
| |
1 | g.216324339A>C | CA344912115 | USH2A | c.1157T>G (p.Ile386Ser)
| |
1 | g.216324339A>G | CA344912116 | USH2A | c.1157T>C (p.Ile386Thr)
| gnomAD v4 |
1 | g.216324339A>T | CA37898368 | USH2A | c.1157T>A (p.Ile386Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.216324343_216324347del | CA2573132655 | USH2A | c.1153_1157del (p.Ile385HisfsTer5)
| ClinVar dbSNP |
1 | g.216324340T>A | CA344912117 | USH2A | c.1156A>T (p.Ile386Phe)
| |
1 | g.216324340T>C | CA344912118 | USH2A | c.1156A>G (p.Ile386Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324340T>G | CA344912119 | USH2A | c.1156A>C (p.Ile386Leu)
| |
1 | g.216324340T= | CA1220652493 | USH2A | c.1156A= (p.Ile386=)
| |
1 | g.216324341A= | CA1220652494 | USH2A | c.1155T= (p.Ile385=)
| |
1 | g.216324341A>C | CA344912120 | USH2A | c.1155T>G (p.Ile385Met)
| |
1 | g.216324341A>G | CA423397914 | USH2A | c.1155T>C (p.Ile385=)
| dbSNP gnomAD v4 |
1 | g.216324341A>T | CA423397915 | USH2A | c.1155T>A (p.Ile385=)
| |