| 1 | g.215675449A= | CA1148224964 | USH2A | c.12462T= (p.Pro4154=)
| |
| 1 | g.215675449A>C | CA423311478 | USH2A | c.12462T>G (p.Pro4154=)
| ClinVar |
| 1 | g.215675449A>G | CA179515 | USH2A | c.12462T>C (p.Pro4154=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675449A>T | CA423311479 | USH2A | c.12462T>A (p.Pro4154=)
| |
| 1 | g.215675449_215675450insTTTTAA | CA529002111 | USH2A | c.12462_12463insTAAAAT
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675450G>A | CA344850848 | USH2A | c.12461C>T (p.Pro4154Leu)
| gnomAD v4 |
| 1 | g.215675450G>C | CA344850849 | USH2A | c.12461C>G (p.Pro4154Arg)
| |
| 1 | g.215675450G>T | CA344850850 | USH2A | c.12461C>A (p.Pro4154His)
| gnomAD v4 |
| 1 | g.215675451G>A | CA344850851 | USH2A | c.12460C>T (p.Pro4154Ser)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675451G>C | CA344850852 | USH2A | c.12460C>G (p.Pro4154Ala)
| |
| 1 | g.215675451G= | CA1220373930 | USH2A | c.12460C= (p.Pro4154=)
| |
| 1 | g.215675451G>T | CA344850853 | USH2A | c.12460C>A (p.Pro4154Thr)
| dbSNP |
| 1 | g.215675451_215675452insTCATGAATCCTAA | CA529002112 | USH2A | c.12459_12460insTTAGGATTCATGA (p.Pro4154LeufsTer23)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675452G>A | CA423311486 | USH2A | c.12459C>T (p.Ala4153=)
| |
| 1 | g.215675452G>C | CA423311489 | USH2A | c.12459C>G (p.Ala4153=)
| |
| 1 | g.215675452G>T | CA423311491 | USH2A | c.12459C>A (p.Ala4153=)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215675453G>A | CA1393461 | USH2A | c.12458C>T (p.Ala4153Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215675453G>C | CA344850855 | USH2A | c.12458C>G (p.Ala4153Gly)
| |
| 1 | g.215675453G= | CA1220373931 | USH2A | c.12458C= (p.Ala4153=)
| |
| 1 | g.215675453G>T | CA344850854 | USH2A | c.12458C>A (p.Ala4153Asp)
| gnomAD v4 |
| 1 | g.215675454del | CA2586968182 | USH2A | c.12457del (p.Ala4153ProfsTer14)
| |
| 1 | g.215675454C>A | CA344850856 | USH2A | c.12457G>T (p.Ala4153Ser)
| |
| 1 | g.215675454C= | CA1142059701 | USH2A | c.12457G= (p.Ala4153=)
| |
| 1 | g.215675454C>G | CA344850857 | USH2A | c.12457G>C (p.Ala4153Pro)
| |
| 1 | g.215675454C>T | CA1393462 | USH2A | c.12457G>A (p.Ala4153Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675455T>A | CA344850858 | USH2A | c.12456A>T (p.Glu4152Asp)
| |
| 1 | g.215675455T>C | CA423311498 | USH2A | c.12456A>G (p.Glu4152=)
| |
| 1 | g.215675455T>G | CA344850859 | USH2A | c.12456A>C (p.Glu4152Asp)
| |
| 1 | g.215675456del | CA529002113 | USH2A | c.12456del (p.Ala4153ProfsTer14)
| gnomAD v2 gnomAD v4 |
| 1 | g.215675456T>A | CA344850860 | USH2A | c.12455A>T (p.Glu4152Val)
| |
| 1 | g.215675456T>C | CA1393463 | USH2A | c.12455A>G (p.Glu4152Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675456T>G | CA344850861 | USH2A | c.12455A>C (p.Glu4152Ala)
| |
| 1 | g.215675456T= | CA1220373932 | USH2A | c.12455A= (p.Glu4152=)
| |
| 1 | g.215675457C>A | CA344850862 | USH2A | c.12454G>T (p.Glu4152Ter)
| |
| 1 | g.215675457C>G | CA344850863 | USH2A | c.12454G>C (p.Glu4152Gln)
| |
| 1 | g.215675457C>T | CA344850864 | USH2A | c.12454G>A (p.Glu4152Lys)
| gnomAD v4 |
| 1 | g.215675458A= | CA1220373933 | USH2A | c.12453T= (p.Asp4151=)
| |
| 1 | g.215675458A>C | CA344850865 | USH2A | c.12453T>G (p.Asp4151Glu)
| |
| 1 | g.215675458A>G | CA423311511 | USH2A | c.12453T>C (p.Asp4151=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675458A>T | CA344850866 | USH2A | c.12453T>A (p.Asp4151Glu)
| |
| 1 | g.215675458_215675459insAGCCTCTTGCCCCAGGGGGGAGAAGTCTGGCT | CA529002114 | USH2A | c.12452_12453insAGCCAGACTTCTCCCCCCTGGGGCAAGAGGCT (p.Asp4151GlufsTer27)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675459T>A | CA344850867 | USH2A | c.12452A>T (p.Asp4151Val)
| |
| 1 | g.215675459T>C | CA344850868 | USH2A | c.12452A>G (p.Asp4151Gly)
| COSMIC COSMIC |
| 1 | g.215675459T>G | CA344850869 | USH2A | c.12452A>C (p.Asp4151Ala)
| COSMIC |
| 1 | g.215675460C>A | CA344850870 | USH2A | c.12451G>T (p.Asp4151Tyr)
| |
| 1 | g.215675460C= | CA1148712095 | USH2A | c.12451G= (p.Asp4151=)
| |
| 1 | g.215675460C>G | CA1393464 | USH2A | c.12451G>C (p.Asp4151His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675460C>T | CA344850871 | USH2A | c.12451G>A (p.Asp4151Asn)
| |
| 1 | g.215675461T>A | CA423311522 | USH2A | c.12450A>T (p.Thr4150=)
| |
| 1 | g.215675461T>C | CA423311524 | USH2A | c.12450A>G (p.Thr4150=)
| ClinVar dbSNP |
| 1 | g.215675461T>G | CA423311526 | USH2A | c.12450A>C (p.Thr4150=)
| |
| 1 | g.215675462G>A | CA344850872 | USH2A | c.12449C>T (p.Thr4150Ile)
| |
| 1 | g.215675462G>C | CA344850873 | USH2A | c.12449C>G (p.Thr4150Arg)
| |
| 1 | g.215675462G>T | CA344850874 | USH2A | c.12449C>A (p.Thr4150Lys)
| |
| 1 | g.215675463T>A | CA344850875 | USH2A | c.12448A>T (p.Thr4150Ser)
| |
| 1 | g.215675463T>C | CA344850876 | USH2A | c.12448A>G (p.Thr4150Ala)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.[215675463T>C;216084853C>T] | CA916079398 | USH2A | c.[5012G>A;12448A>G] (p.[Gly1671Asp;Thr4150Ala])
| |
| 1 | g.215675463T>G | CA344850877 | USH2A | c.12448A>C (p.Thr4150Pro)
| |
| 1 | g.215675463T= | CA1220373934 | USH2A | c.12448A= (p.Thr4150=)
| |
| 1 | g.215675464C>A | CA344850878 | USH2A | c.12447G>T (p.Trp4149Cys)
| |
| 1 | g.215675464C>G | CA344850879 | USH2A | c.12447G>C (p.Trp4149Cys)
| |
| 1 | g.215675464C>T | CA344850880 | USH2A | c.12447G>A (p.Trp4149Ter)
| ClinVar |
| 1 | g.215675465C>A | CA344850884 | USH2A | c.12446G>T (p.Trp4149Leu)
| |
| 1 | g.215675465C= | CA1220373935 | USH2A | c.12446G= (p.Trp4149=)
| |
| 1 | g.215675465C>G | CA344850882 | USH2A | c.12446G>C (p.Trp4149Ser)
| |
| 1 | g.215675465C>T | CA344850881 | USH2A | c.12446G>A (p.Trp4149Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675467_215675468del | CA2650500663 | USH2A | c.12445_12446del (p.Trp4149AspfsTer3)
| gnomAD v4 |
| 1 | g.215675466A= | CA1141495405 | USH2A | c.12445T= (p.Trp4149=)
| |
| 1 | g.215675466A>C | CA344850885 | USH2A | c.12445T>G (p.Trp4149Gly)
| |
| 1 | g.215675466A>G | CA143290 | USH2A | c.12445T>C (p.Trp4149Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675466A>T | CA344850887 | USH2A | c.12445T>A (p.Trp4149Arg)
| |
| 1 | g.215675467C>A | CA423311538 | USH2A | c.12444G>T (p.Leu4148=)
| |
| 1 | g.215675467C= | CA1220373936 | USH2A | c.12444G= (p.Leu4148=)
| |
| 1 | g.215675467C>G | CA423311540 | USH2A | c.12444G>C (p.Leu4148=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675467C>T | CA37413162 | USH2A | c.12444G>A (p.Leu4148=)
| dbSNP gnomAD v4 |
| 1 | g.215675468A= | CA1220373937 | USH2A | c.12443T= (p.Leu4148=)
| |
| 1 | g.215675468A>C | CA344850889 | USH2A | c.12443T>G (p.Leu4148Arg)
| |
| 1 | g.215675468A>G | CA10604658 | USH2A | c.12443T>C (p.Leu4148Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675468A>T | CA344850891 | USH2A | c.12443T>A (p.Leu4148Gln)
| |
| 1 | g.215675469G>A | CA423311547 | USH2A | c.12442C>T (p.Leu4148=)
| |
| 1 | g.215675469G>C | CA344850892 | USH2A | c.12442C>G (p.Leu4148Val)
| |
| 1 | g.215675469G>T | CA344850894 | USH2A | c.12442C>A (p.Leu4148Met)
| |
| 1 | g.215675470A>C | CA423311549 | USH2A | c.12441T>G (p.Pro4147=)
| |
| 1 | g.215675470A>G | CA423311551 | USH2A | c.12441T>C (p.Pro4147=)
| |
| 1 | g.215675470A>T | CA423311553 | USH2A | c.12441T>A (p.Pro4147=)
| |
| 1 | g.215675471G>A | CA344850896 | USH2A | c.12440C>T (p.Pro4147Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675471G>C | CA344850897 | USH2A | c.12440C>G (p.Pro4147Arg)
| |
| 1 | g.215675471G= | CA1220373938 | USH2A | c.12440C= (p.Pro4147=)
| |
| 1 | g.215675471G>T | CA344850898 | USH2A | c.12440C>A (p.Pro4147His)
| COSMIC COSMIC |
| 1 | g.215675472G>A | CA344850900 | USH2A | c.12439C>T (p.Pro4147Ser)
| |
| 1 | g.215675472G>C | CA344850902 | USH2A | c.12439C>G (p.Pro4147Ala)
| |
| 1 | g.215675472G>T | CA344850903 | USH2A | c.12439C>A (p.Pro4147Thr)
| |
| 1 | g.215675473C>A | CA344850905 | USH2A | c.12438G>T (p.Gln4146His)
| |
| 1 | g.215675473C>G | CA344850906 | USH2A | c.12438G>C (p.Gln4146His)
| |
| 1 | g.215675473C>T | CA423311568 | USH2A | c.12438G>A (p.Gln4146=)
| |
| 1 | g.215675474T>A | CA344850908 | USH2A | c.12437A>T (p.Gln4146Leu)
| |
| 1 | g.215675474T>C | CA344850910 | USH2A | c.12437A>G (p.Gln4146Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675474T>G | CA344850912 | USH2A | c.12437A>C (p.Gln4146Pro)
| |
| 1 | g.215675474T= | CA1220373939 | USH2A | c.12437A= (p.Gln4146=)
| |
| 1 | g.215675475G>A | CA344850913 | USH2A | c.12436C>T (p.Gln4146Ter)
| |
| 1 | g.215675475G>C | CA344850914 | USH2A | c.12436C>G (p.Gln4146Glu)
| |
| 1 | g.215675475G= | CA1220373940 | USH2A | c.12436C= (p.Gln4146=)
| |
| 1 | g.215675475G>T | CA344850915 | USH2A | c.12436C>A (p.Gln4146Lys)
| dbSNP |
| 1 | g.215675476A>C | CA423311572 | USH2A | c.12435T>G (p.Pro4145=)
| |
| 1 | g.215675476A>G | CA423311574 | USH2A | c.12435T>C (p.Pro4145=)
| |
| 1 | g.215675476A>T | CA423311576 | USH2A | c.12435T>A (p.Pro4145=)
| |
| 1 | g.215675477G>A | CA344850917 | USH2A | c.12434C>T (p.Pro4145Leu)
| gnomAD v4 |
| 1 | g.215675477G>C | CA344850919 | USH2A | c.12434C>G (p.Pro4145Arg)
| |
| 1 | g.215675477G>T | CA344850920 | USH2A | c.12434C>A (p.Pro4145His)
| |
| 1 | g.215675478G>A | CA344850921 | USH2A | c.12433C>T (p.Pro4145Ser)
| |
| 1 | g.215675478G>C | CA344850923 | USH2A | c.12433C>G (p.Pro4145Ala)
| |
| 1 | g.215675478G>T | CA344850924 | USH2A | c.12433C>A (p.Pro4145Thr)
| |
| 1 | g.215675479C>A | CA423311598 | USH2A | c.12432G>T (p.Ala4144=)
| dbSNP gnomAD v4 |
| 1 | g.215675479C= | CA1220373941 | USH2A | c.12432G= (p.Ala4144=)
| |
| 1 | g.215675479C>G | CA423311596 | USH2A | c.12432G>C (p.Ala4144=)
| |
| 1 | g.215675479C>T | CA1393465 | USH2A | c.12432G>A (p.Ala4144=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675480del | CA2586968185 | USH2A | c.12431del (p.Ala4144GlyfsTer23)
| |
| 1 | g.215675480G>A | CA1393466 | USH2A | c.12431C>T (p.Ala4144Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675480G>C | CA344850925 | USH2A | c.12431C>G (p.Ala4144Gly)
| COSMIC |
| 1 | g.215675480G= | CA1147872004 | USH2A | c.12431C= (p.Ala4144=)
| |
| 1 | g.215675480G>T | CA344850927 | USH2A | c.12431C>A (p.Ala4144Glu)
| gnomAD v4 |
| 1 | g.215675481C>A | CA344850929 | USH2A | c.12430G>T (p.Ala4144Ser)
| |
| 1 | g.215675481C= | CA1220373942 | USH2A | c.12430G= (p.Ala4144=)
| |
| 1 | g.215675481C>G | CA344850931 | USH2A | c.12430G>C (p.Ala4144Pro)
| |
| 1 | g.215675481C>T | CA344850932 | USH2A | c.12430G>A (p.Ala4144Thr)
| dbSNP gnomAD v2 |
| 1 | g.215675482C>A | CA423311603 | USH2A | c.12429G>T (p.Ser4143=)
| gnomAD v4 |
| 1 | g.215675482C= | CA1220373943 | USH2A | c.12429G= (p.Ser4143=)
| |
| 1 | g.215675482C>G | CA423311604 | USH2A | c.12429G>C (p.Ser4143=)
| |
| 1 | g.215675482C>T | CA1393467 | USH2A | c.12429G>A (p.Ser4143=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675483G>A | CA1393468 | USH2A | c.12428C>T (p.Ser4143Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675483G>C | CA344850936 | USH2A | c.12428C>G (p.Ser4143Trp)
| |
| 1 | g.215675483G= | CA1143920665 | USH2A | c.12428C= (p.Ser4143=)
| |
| 1 | g.215675483G>T | CA344850937 | USH2A | c.12428C>A (p.Ser4143Ter)
| |
| 1 | g.215675484A>C | CA344850938 | USH2A | c.12427T>G (p.Ser4143Ala)
| |
| 1 | g.215675484A>G | CA344850940 | USH2A | c.12427T>C (p.Ser4143Pro)
| |
| 1 | g.215675484A>T | CA344850942 | USH2A | c.12427T>A (p.Ser4143Thr)
| |
| 1 | g.215675485G>A | CA423311613 | USH2A | c.12426C>T (p.His4142=)
| |
| 1 | g.215675485G>C | CA344850943 | USH2A | c.12426C>G (p.His4142Gln)
| |
| 1 | g.215675485G>T | CA344850945 | USH2A | c.12426C>A (p.His4142Gln)
| |
| 1 | g.215675486T>A | CA344850949 | USH2A | c.12425A>T (p.His4142Leu)
| |
| 1 | g.215675486T>C | CA344850947 | USH2A | c.12425A>G (p.His4142Arg)
| |
| 1 | g.215675486T>G | CA344850946 | USH2A | c.12425A>C (p.His4142Pro)
| |
| 1 | g.215675487G>A | CA1393469 | USH2A | c.12424C>T (p.His4142Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215675487G>C | CA344850951 | USH2A | c.12424C>G (p.His4142Asp)
| |
| 1 | g.215675487G= | CA1220373944 | USH2A | c.12424C= (p.His4142=)
| |
| 1 | g.215675487G>T | CA344850953 | USH2A | c.12424C>A (p.His4142Asn)
| |
| 1 | g.215675488T>A | CA423311626 | USH2A | c.12423A>T (p.Ala4141=)
| |
| 1 | g.215675488T>C | CA423311633 | USH2A | c.12423A>G (p.Ala4141=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675488T>G | CA423311634 | USH2A | c.12423A>C (p.Ala4141=)
| |
| 1 | g.215675489G>A | CA344850954 | USH2A | c.12422C>T (p.Ala4141Val)
| dbSNP gnomAD v4 |
| 1 | g.215675489G>C | CA344850955 | USH2A | c.12422C>G (p.Ala4141Gly)
| |
| 1 | g.215675489G= | CA1220373945 | USH2A | c.12422C= (p.Ala4141=)
| |
| 1 | g.215675489G>T | CA344850956 | USH2A | c.12422C>A (p.Ala4141Glu)
| |
| 1 | g.215675490C>A | CA344850958 | USH2A | c.12421G>T (p.Ala4141Ser)
| |
| 1 | g.215675490C>G | CA344850960 | USH2A | c.12421G>C (p.Ala4141Pro)
| |
| 1 | g.215675490C>T | CA344850962 | USH2A | c.12421G>A (p.Ala4141Thr)
| |
| 1 | g.215675491A= | CA1220373946 | USH2A | c.12420T= (p.Cys4140=)
| |
| 1 | g.215675491A>C | CA344850963 | USH2A | c.12420T>G (p.Cys4140Trp)
| |
| 1 | g.215675491A>G | CA423311645 | USH2A | c.12420T>C (p.Cys4140=)
| ClinVar dbSNP |
| 1 | g.215675491A>T | CA344850964 | USH2A | c.12420T>A (p.Cys4140Ter)
| |
| 1 | g.215675492C>A | CA16621587 | USH2A | c.12419G>T (p.Cys4140Phe)
| ClinVar dbSNP |
| 1 | g.215675492C= | CA1220373947 | USH2A | c.12419G= (p.Cys4140=)
| |
| 1 | g.215675492C>G | CA344850966 | USH2A | c.12419G>C (p.Cys4140Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675492C>T | CA344850968 | USH2A | c.12419G>A (p.Cys4140Tyr)
| |
| 1 | g.215675493A= | CA1220373948 | USH2A | c.12418T= (p.Cys4140=)
| |
| 1 | g.215675493A>C | CA344850970 | USH2A | c.12418T>G (p.Cys4140Gly)
| ClinVar dbSNP |
| 1 | g.215675493A>G | CA344850972 | USH2A | c.12418T>C (p.Cys4140Arg)
| |
| 1 | g.215675493A>T | CA344850969 | USH2A | c.12418T>A (p.Cys4140Ser)
| |
| 1 | g.215675494A= | CA1220373949 | USH2A | c.12417T= (p.Gly4139=)
| |
| 1 | g.215675494A>C | CA423311653 | USH2A | c.12417T>G (p.Gly4139=)
| |
| 1 | g.215675494A>G | CA423311655 | USH2A | c.12417T>C (p.Gly4139=)
| ClinVar |
| 1 | g.215675494A>T | CA423311657 | USH2A | c.12417T>A (p.Gly4139=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675495C>A | CA344850974 | USH2A | c.12416G>T (p.Gly4139Val)
| ClinVar dbSNP |
| 1 | g.215675495C= | CA1220373950 | USH2A | c.12416G= (p.Gly4139=)
| |
| 1 | g.215675495C>G | CA344850975 | USH2A | c.12416G>C (p.Gly4139Ala)
| |
| 1 | g.215675495C>T | CA344850977 | USH2A | c.12416G>A (p.Gly4139Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215675496del | CA2740090320 | USH2A | c.12416del (p.Gly4139ValfsTer28)
| ClinVar |
| 1 | g.215675496C>A | CA344850978 | USH2A | c.12415G>T (p.Gly4139Cys)
| |
| 1 | g.215675496C= | CA1141644844 | USH2A | c.12415G= (p.Gly4139=)
| |
| 1 | g.215675496C>G | CA16603530 | USH2A | c.12415G>C (p.Gly4139Arg)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215675496C>T | CA344850980 | USH2A | c.12415G>A (p.Gly4139Ser)
| ClinVar |
| 1 | g.215675497T>A | CA423311662 | USH2A | c.12414A>T (p.Ala4138=)
| |
| 1 | g.215675497T>C | CA423311664 | USH2A | c.12414A>G (p.Ala4138=)
| |
| 1 | g.215675497T>G | CA423311666 | USH2A | c.12414A>C (p.Ala4138=)
| |
| 1 | g.215675498G>A | CA344850984 | USH2A | c.12413C>T (p.Ala4138Val)
| gnomAD v4 |
| 1 | g.215675498G>C | CA344850982 | USH2A | c.12413C>G (p.Ala4138Gly)
| |
| 1 | g.215675498G>T | CA344850983 | USH2A | c.12413C>A (p.Ala4138Glu)
| |
| 1 | g.215675499C>A | CA344850986 | USH2A | c.12412G>T (p.Ala4138Ser)
| |
| 1 | g.215675499C= | CA1220373951 | USH2A | c.12412G= (p.Ala4138=)
| |
| 1 | g.215675499C>G | CA344850988 | USH2A | c.12412G>C (p.Ala4138Pro)
| |
| 1 | g.215675499C>T | CA344850990 | USH2A | c.12412G>A (p.Ala4138Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675500T>A | CA344850991 | USH2A | c.12411A>T (p.Arg4137Ser)
| |
| 1 | g.215675500T>C | CA423311670 | USH2A | c.12411A>G (p.Arg4137=)
| gnomAD v4 |
| 1 | g.215675500T>G | CA344850992 | USH2A | c.12411A>C (p.Arg4137Ser)
| |
| 1 | g.215675501C>A | CA344850994 | USH2A | c.12410G>T (p.Arg4137Ile)
| |
| 1 | g.215675501C>G | CA344850997 | USH2A | c.12410G>C (p.Arg4137Thr)
| gnomAD v4 |
| 1 | g.215675501C>T | CA344850996 | USH2A | c.12410G>A (p.Arg4137Lys)
| gnomAD v4 |
| 1 | g.215675501_215675502delinsCT | CA1220373952 | USH2A | c.12409_12410delinsAG (p.Arg4137=)
| |
| 1 | g.215675502del | CA916082114 | USH2A | c.12409del (p.Arg4137GlufsTer30)
| ClinVar dbSNP |
| 1 | g.215675502T>A | CA344850999 | USH2A | c.12409A>T (p.Arg4137Ter)
| |
| 1 | g.215675502T>C | CA344851000 | USH2A | c.12409A>G (p.Arg4137Gly)
| ClinVar |
| 1 | g.215675502T>G | CA423311674 | USH2A | c.12409A>C (p.Arg4137=)
| ClinVar gnomAD v4 |
| 1 | g.215675503G>A | CA1393470 | USH2A | c.12408C>T (p.Thr4136=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675503G>C | CA423311677 | USH2A | c.12408C>G (p.Thr4136=)
| |
| 1 | g.215675503G= | CA1220373953 | USH2A | c.12408C= (p.Thr4136=)
| |
| 1 | g.215675503G>T | CA423311679 | USH2A | c.12408C>A (p.Thr4136=)
| dbSNP |
| 1 | g.215675504G>A | CA344851002 | USH2A | c.12407C>T (p.Thr4136Ile)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675504G>C | CA344851004 | USH2A | c.12407C>G (p.Thr4136Ser)
| |
| 1 | g.215675504G= | CA1220373954 | USH2A | c.12407C= (p.Thr4136=)
| |
| 1 | g.215675504G>T | CA344851005 | USH2A | c.12407C>A (p.Thr4136Asn)
| |
| 1 | g.215675505T>A | CA344851007 | USH2A | c.12406A>T (p.Thr4136Ser)
| |
| 1 | g.215675505T>C | CA344851009 | USH2A | c.12406A>G (p.Thr4136Ala)
| |
| 1 | g.215675505T>G | CA344851010 | USH2A | c.12406A>C (p.Thr4136Pro)
| dbSNP |
| 1 | g.215675505T= | CA1220373955 | USH2A | c.12406A= (p.Thr4136=)
| |
| 1 | g.215675506G>A | CA423311686 | USH2A | c.12405C>T (p.Cys4135=)
| |
| 1 | g.215675506G>C | CA344851011 | USH2A | c.12405C>G (p.Cys4135Trp)
| |
| 1 | g.215675506G>T | CA344851012 | USH2A | c.12405C>A (p.Cys4135Ter)
| |
| 1 | g.215675507C>A | CA344851013 | USH2A | c.12404G>T (p.Cys4135Phe)
| |
| 1 | g.215675507C>G | CA344851016 | USH2A | c.12404G>C (p.Cys4135Ser)
| |
| 1 | g.215675507C>T | CA344851014 | USH2A | c.12404G>A (p.Cys4135Tyr)
| |
| 1 | g.215675508A= | CA1220373956 | USH2A | c.12403T= (p.Cys4135=)
| |
| 1 | g.215675508A>C | CA344851017 | USH2A | c.12403T>G (p.Cys4135Gly)
| ClinVar dbSNP |
| 1 | g.215675508A>G | CA344851019 | USH2A | c.12403T>C (p.Cys4135Arg)
| gnomAD v4 |
| 1 | g.215675508A>T | CA344851020 | USH2A | c.12403T>A (p.Cys4135Ser)
| |
| 1 | g.215675509G>A | CA423311696 | USH2A | c.12402C>T (p.Ala4134=)
| |
| 1 | g.215675509G>C | CA423311697 | USH2A | c.12402C>G (p.Ala4134=)
| ClinVar dbSNP |
| 1 | g.215675509G= | CA1220373957 | USH2A | c.12402C= (p.Ala4134=)
| |
| 1 | g.215675509G>T | CA423311699 | USH2A | c.12402C>A (p.Ala4134=)
| |
| 1 | g.215675510G>A | CA1393471 | USH2A | c.12401C>T (p.Ala4134Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675510G>C | CA344851022 | USH2A | c.12401C>G (p.Ala4134Gly)
| |
| 1 | g.215675510G= | CA1220373958 | USH2A | c.12401C= (p.Ala4134=)
| |
| 1 | g.215675510G>T | CA344851024 | USH2A | c.12401C>A (p.Ala4134Asp)
| |
| 1 | g.215675511C>A | CA344851029 | USH2A | c.12400G>T (p.Ala4134Ser)
| dbSNP |
| 1 | g.215675511C>G | CA344851027 | USH2A | c.12400G>C (p.Ala4134Pro)
| |
| 1 | g.215675511C>T | CA344851026 | USH2A | c.12400G>A (p.Ala4134Thr)
| |
| 1 | g.215675512C>A | CA344851030 | USH2A | c.12399G>T (p.Glu4133Asp)
| |
| 1 | g.215675512C= | CA1142362401 | USH2A | c.12399G= (p.Glu4133=)
| |
| 1 | g.215675512C>G | CA344851032 | USH2A | c.12399G>C (p.Glu4133Asp)
| |
| 1 | g.215675512C>T | CA1393472 | USH2A | c.12399G>A (p.Glu4133=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675513T>A | CA344851033 | USH2A | c.12398A>T (p.Glu4133Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215675513T>C | CA344851034 | USH2A | c.12398A>G (p.Glu4133Gly)
| |
| 1 | g.215675513T>G | CA344851035 | USH2A | c.12398A>C (p.Glu4133Ala)
| |
| 1 | g.215675513T= | CA1220373959 | USH2A | c.12398A= (p.Glu4133=)
| |
| 1 | g.215675514C>A | CA344851037 | USH2A | c.12397G>T (p.Glu4133Ter)
| |
| 1 | g.215675514C>G | CA344851040 | USH2A | c.12397G>C (p.Glu4133Gln)
| |
| 1 | g.215675514C>T | CA344851038 | USH2A | c.12397G>A (p.Glu4133Lys)
| |
| 1 | g.215675515C>A | CA423311711 | USH2A | c.12396G>T (p.Leu4132=)
| |
| 1 | g.215675515C>G | CA423311716 | USH2A | c.12396G>C (p.Leu4132=)
| |
| 1 | g.215675515C>T | CA423311718 | USH2A | c.12396G>A (p.Leu4132=)
| |
| 1 | g.215675516A= | CA1220373960 | USH2A | c.12395T= (p.Leu4132=)
| |
| 1 | g.215675516A>C | CA344851042 | USH2A | c.12395T>G (p.Leu4132Arg)
| |
| 1 | g.215675516A>G | CA1393473 | USH2A | c.12395T>C (p.Leu4132Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675516A>T | CA1393474 | USH2A | c.12395T>A (p.Leu4132Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215675516_215675517delinsAG | CA1220373961 | USH2A | c.12394_12395delinsCT (p.Leu4132=)
| |
| 1 | g.215675517G>A | CA423311722 | USH2A | c.12394C>T (p.Leu4132=)
| ClinVar gnomAD v4 |
| 1 | g.215675517G>C | CA344851045 | USH2A | c.12394C>G (p.Leu4132Val)
| |
| 1 | g.215675517G>T | CA344851047 | USH2A | c.12394C>A (p.Leu4132Met)
| |
| 1 | g.215675519del | CA658822646 | USH2A | c.12394del (p.Leu4132TrpfsTer?)
| ClinVar dbSNP |
| 1 | g.215675518G>A | CA1393475 | USH2A | c.12393C>T (p.Thr4131=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675518G>C | CA423311728 | USH2A | c.12393C>G (p.Thr4131=)
| |
| 1 | g.215675518G= | CA1220373962 | USH2A | c.12393C= (p.Thr4131=)
| |
| 1 | g.215675518G>T | CA423311729 | USH2A | c.12393C>A (p.Thr4131=)
| |
| 1 | g.215675519G>A | CA1393476 | USH2A | c.12392C>T (p.Thr4131Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215675519G>C | CA344851050 | USH2A | c.12392C>G (p.Thr4131Ser)
| |
| 1 | g.215675519G= | CA1142316094 | USH2A | c.12392C= (p.Thr4131=)
| |
| 1 | g.215675519G>T | CA344851052 | USH2A | c.12392C>A (p.Thr4131Asn)
| gnomAD v4 |
| 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 |
