1 | g.216324167C>A | CA344911318 | USH2A | c.1328+1G>T (n.1328+1G>T)
| |
1 | g.216324167C>G | CA344911319 | USH2A | c.1328+1G>C (n.1328+1G>C)
| ClinVar |
1 | g.216324167C>T | CA344911320 | USH2A | c.1328+1G>A (n.1328+1G>A)
| gnomAD v4 |
1 | g.216324168T>A | CA344911321 | USH2A | c.1328A>T (p.Asn443Ile)
| |
1 | g.216324168T>C | CA344911322 | USH2A | c.1328A>G (p.Asn443Ser)
| dbSNP gnomAD v4 |
1 | g.216324168T>G | CA344911323 | USH2A | c.1328A>C (p.Asn443Thr)
| |
1 | g.216324168T= | CA1220652431 | USH2A | c.1328A= (p.Asn443=)
| |
1 | g.216324169T>A | CA344911324 | USH2A | c.1327A>T (p.Asn443Tyr)
| |
1 | g.216324169T>C | CA10609866 | USH2A | c.1327A>G (p.Asn443Asp)
| ClinVar dbSNP |
1 | g.216324169T>G | CA1396554 | USH2A | c.1327A>C (p.Asn443His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324169T= | CA1220652432 | USH2A | c.1327A= (p.Asn443=)
| |
1 | g.216324169_216324184dup | CA731446559 | USH2A | c.1312_1327dup (p.Asn443MetfsTer18)
| ClinVar dbSNP |
1 | g.216324170G>A | CA37898303 | USH2A | c.1326C>T (p.Ser442=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324170G>C | CA423397831 | USH2A | c.1326C>G (p.Ser442=)
| |
1 | g.216324170G= | CA1220652433 | USH2A | c.1326C= (p.Ser442=)
| |
1 | g.216324170G>T | CA423397830 | USH2A | c.1326C>A (p.Ser442=)
| |
1 | g.216324171G>A | CA1396555 | USH2A | c.1325C>T (p.Ser442Phe)
| dbSNP ExAC gnomAD v2 |
1 | g.216324171G>C | CA344911325 | USH2A | c.1325C>G (p.Ser442Cys)
| |
1 | g.216324171G= | CA1220652434 | USH2A | c.1325C= (p.Ser442=)
| |
1 | g.216324171G>T | CA344911326 | USH2A | c.1325C>A (p.Ser442Tyr)
| gnomAD v4 |
1 | g.216324172A>C | CA344911328 | USH2A | c.1324T>G (p.Ser442Ala)
| |
1 | g.216324172A>G | CA344911330 | USH2A | c.1324T>C (p.Ser442Pro)
| |
1 | g.216324172A>T | CA344911332 | USH2A | c.1324T>A (p.Ser442Thr)
| |
1 | g.216324174del | CA2586968399 | USH2A | c.1324del (p.Ser442ProfsTer16)
| |
1 | g.216324173A>C | CA423397832 | USH2A | c.1323T>G (p.Leu441=)
| |
1 | g.216324173A>G | CA423397833 | USH2A | c.1323T>C (p.Leu441=)
| |
1 | g.216324173A>T | CA423397834 | USH2A | c.1323T>A (p.Leu441=)
| |
1 | g.216324174A>C | CA344911334 | USH2A | c.1322T>G (p.Leu441Arg)
| |
1 | g.216324174A>G | CA344911336 | USH2A | c.1322T>C (p.Leu441Pro)
| |
1 | g.216324174A>T | CA344911338 | USH2A | c.1322T>A (p.Leu441His)
| |
1 | g.216324175G>A | CA344911340 | USH2A | c.1321C>T (p.Leu441Phe)
| |
1 | g.216324175G>C | CA344911342 | USH2A | c.1321C>G (p.Leu441Val)
| |
1 | g.216324175G>T | CA344911343 | USH2A | c.1321C>A (p.Leu441Ile)
| gnomAD v4 |
1 | g.216324176C>A | CA344911346 | USH2A | c.1320G>T (p.Gln440His)
| |
1 | g.216324176C>G | CA344911347 | USH2A | c.1320G>C (p.Gln440His)
| |
1 | g.216324176C>T | CA423397835 | USH2A | c.1320G>A (p.Gln440=)
| COSMIC COSMIC COSMIC |
1 | g.216324177T>A | CA344911353 | USH2A | c.1319A>T (p.Gln440Leu)
| |
1 | g.216324177T>C | CA344911352 | USH2A | c.1319A>G (p.Gln440Arg)
| |
1 | g.216324177T>G | CA344911350 | USH2A | c.1319A>C (p.Gln440Pro)
| |
1 | g.216324178G>A | CA344911355 | USH2A | c.1318C>T (p.Gln440Ter)
| |
1 | g.216324178G>C | CA344911357 | USH2A | c.1318C>G (p.Gln440Glu)
| |
1 | g.216324178G>T | CA344911358 | USH2A | c.1318C>A (p.Gln440Lys)
| |
1 | g.216324179A>C | CA423397836 | USH2A | c.1317T>G (p.Leu439=)
| |
1 | g.216324179A>G | CA423397837 | USH2A | c.1317T>C (p.Leu439=)
| |
1 | g.216324179A>T | CA423397838 | USH2A | c.1317T>A (p.Leu439=)
| |
1 | g.216324180A= | CA1220652435 | USH2A | c.1316T= (p.Leu439=)
| |
1 | g.216324180A>C | CA344911361 | USH2A | c.1316T>G (p.Leu439Arg)
| |
1 | g.216324180A>G | CA344911363 | USH2A | c.1316T>C (p.Leu439Pro)
| ClinVar dbSNP |
1 | g.216324180A>T | CA344911364 | USH2A | c.1316T>A (p.Leu439His)
| |
1 | g.216324181G>A | CA344911369 | USH2A | c.1315C>T (p.Leu439Phe)
| gnomAD v4 |
1 | g.216324181G>C | CA344911367 | USH2A | c.1315C>G (p.Leu439Val)
| |
1 | g.216324181G>T | CA344911368 | USH2A | c.1315C>A (p.Leu439Ile)
| |
1 | g.216324182A>C | CA344911372 | USH2A | c.1314T>G (p.Cys438Trp)
| |
1 | g.216324182A>G | CA423397839 | USH2A | c.1314T>C (p.Cys438=)
| |
1 | g.216324182A>T | CA344911373 | USH2A | c.1314T>A (p.Cys438Ter)
| |
1 | g.216324183C>A | CA344911375 | USH2A | c.1313G>T (p.Cys438Phe)
| |
1 | g.216324183C= | CA1220652436 | USH2A | c.1313G= (p.Cys438=)
| |
1 | g.216324183C>G | CA344911377 | USH2A | c.1313G>C (p.Cys438Ser)
| |
1 | g.216324183C>T | CA344911379 | USH2A | c.1313G>A (p.Cys438Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.216324184A>C | CA344911381 | USH2A | c.1312T>G (p.Cys438Gly)
| |
1 | g.216324184A>G | CA344911384 | USH2A | c.1312T>C (p.Cys438Arg)
| |
1 | g.216324184A>T | CA344911383 | USH2A | c.1312T>A (p.Cys438Ser)
| ClinVar dbSNP |
1 | g.216324185G>A | CA423397840 | USH2A | c.1311C>T (p.Asn437=)
| |
1 | g.216324185G>C | CA344911386 | USH2A | c.1311C>G (p.Asn437Lys)
| |
1 | g.216324185G>T | CA344911388 | USH2A | c.1311C>A (p.Asn437Lys)
| |
1 | g.216324186T>A | CA344911390 | USH2A | c.1310A>T (p.Asn437Ile)
| |
1 | g.216324186T>C | CA344911392 | USH2A | c.1310A>G (p.Asn437Ser)
| gnomAD v4 |
1 | g.216324186T>G | CA344911393 | USH2A | c.1310A>C (p.Asn437Thr)
| |
1 | g.216324187T>A | CA344911395 | USH2A | c.1309A>T (p.Asn437Tyr)
| |
1 | g.216324187T>C | CA344911397 | USH2A | c.1309A>G (p.Asn437Asp)
| |
1 | g.216324187T>G | CA344911399 | USH2A | c.1309A>C (p.Asn437His)
| |
1 | g.216324188G>A | CA423397841 | USH2A | c.1308C>T (p.Val436=)
| |
1 | g.216324188G>C | CA423397842 | USH2A | c.1308C>G (p.Val436=)
| |
1 | g.216324188G>T | CA423397843 | USH2A | c.1308C>A (p.Val436=)
| |
1 | g.216324189A= | CA1220652437 | USH2A | c.1307T= (p.Val436=)
| |
1 | g.216324189A>C | CA344911401 | USH2A | c.1307T>G (p.Val436Gly)
| |
1 | g.216324189A>G | CA344911402 | USH2A | c.1307T>C (p.Val436Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324189A>T | CA344911403 | USH2A | c.1307T>A (p.Val436Asp)
| |
1 | g.216324190C>A | CA344911407 | USH2A | c.1306G>T (p.Val436Phe)
| |
1 | g.216324190C>G | CA344911409 | USH2A | c.1306G>C (p.Val436Leu)
| |
1 | g.216324190C>T | CA344911406 | USH2A | c.1306G>A (p.Val436Ile)
| |
1 | g.216324191A>C | CA423397846 | USH2A | c.1305T>G (p.Ser435=)
| ClinVar |
1 | g.216324191A>G | CA423397845 | USH2A | c.1305T>C (p.Ser435=)
| |
1 | g.216324191A>T | CA423397844 | USH2A | c.1305T>A (p.Ser435=)
| |
1 | g.216324192G>A | CA344911414 | USH2A | c.1304C>T (p.Ser435Phe)
| gnomAD v4 |
1 | g.216324192G>C | CA344911411 | USH2A | c.1304C>G (p.Ser435Cys)
| gnomAD v4 |
1 | g.216324192G>T | CA344911415 | USH2A | c.1304C>A (p.Ser435Tyr)
| |
1 | g.216324193A>C | CA344911417 | USH2A | c.1303T>G (p.Ser435Ala)
| |
1 | g.216324193A>G | CA344911420 | USH2A | c.1303T>C (p.Ser435Pro)
| |
1 | g.216324193A>T | CA344911421 | USH2A | c.1303T>A (p.Ser435Thr)
| |
1 | g.216324194A>C | CA344911424 | USH2A | c.1302T>G (p.Asp434Glu)
| |
1 | g.216324194A>G | CA423397847 | USH2A | c.1302T>C (p.Asp434=)
| |
1 | g.216324194A>T | CA344911428 | USH2A | c.1302T>A (p.Asp434Glu)
| |
1 | g.216324195T>A | CA344911434 | USH2A | c.1301A>T (p.Asp434Val)
| |
1 | g.216324195T>C | CA344911433 | USH2A | c.1301A>G (p.Asp434Gly)
| |
1 | g.216324195T>G | CA344911431 | USH2A | c.1301A>C (p.Asp434Ala)
| |
1 | g.216324196C>A | CA344911437 | USH2A | c.1300G>T (p.Asp434Tyr)
| COSMIC COSMIC COSMIC |
1 | g.216324196C= | CA1220652438 | USH2A | c.1300G= (p.Asp434=)
| |
1 | g.216324196C>G | CA344911438 | USH2A | c.1300G>C (p.Asp434His)
| |
1 | g.216324196C>T | CA37898307 | USH2A | c.1300G>A (p.Asp434Asn)
| dbSNP |
1 | g.216324197A= | CA1220652439 | USH2A | c.1299T= (p.Pro433=)
| |
1 | g.216324197A>C | CA423397848 | USH2A | c.1299T>G (p.Pro433=)
| |
1 | g.216324197A>G | CA423397849 | USH2A | c.1299T>C (p.Pro433=)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324197A>T | CA423397850 | USH2A | c.1299T>A (p.Pro433=)
| |
1 | g.216324198G>A | CA344911439 | USH2A | c.1298C>T (p.Pro433Leu)
| gnomAD v4 |
1 | g.216324198G>C | CA344911440 | USH2A | c.1298C>G (p.Pro433Arg)
| |
1 | g.216324198G= | CA1220652440 | USH2A | c.1298C= (p.Pro433=)
| |
1 | g.216324198G>T | CA344911441 | USH2A | c.1298C>A (p.Pro433His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324199G>A | CA1396556 | USH2A | c.1297C>T (p.Pro433Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324199G>C | CA344911442 | USH2A | c.1297C>G (p.Pro433Ala)
| |
1 | g.216324199G= | CA1141687445 | USH2A | c.1297C= (p.Pro433=)
| |
1 | g.216324199G>T | CA344911444 | USH2A | c.1297C>A (p.Pro433Thr)
| |
1 | g.216324200T>A | CA344911447 | USH2A | c.1296A>T (p.Lys432Asn)
| |
1 | g.216324200T>C | CA423397851 | USH2A | c.1296A>G (p.Lys432=)
| |
1 | g.216324200T>G | CA344911448 | USH2A | c.1296A>C (p.Lys432Asn)
| |
1 | g.216324201T>A | CA344911450 | USH2A | c.1295A>T (p.Lys432Ile)
| |
1 | g.216324201T>C | CA344911452 | USH2A | c.1295A>G (p.Lys432Arg)
| |
1 | g.216324201T>G | CA344911454 | USH2A | c.1295A>C (p.Lys432Thr)
| |
1 | g.216324202T>A | CA344911455 | USH2A | c.1294A>T (p.Lys432Ter)
| |
1 | g.216324202T>C | CA344911457 | USH2A | c.1294A>G (p.Lys432Glu)
| |
1 | g.216324202T>G | CA344911458 | USH2A | c.1294A>C (p.Lys432Gln)
| gnomAD v4 |
1 | g.216324203T>A | CA344911460 | USH2A | c.1293A>T (p.Glu431Asp)
| |
1 | g.216324203T>C | CA423397852 | USH2A | c.1293A>G (p.Glu431=)
| |
1 | g.216324203T>G | CA344911462 | USH2A | c.1293A>C (p.Glu431Asp)
| |
1 | g.216324204T>A | CA344911464 | USH2A | c.1292A>T (p.Glu431Val)
| |
1 | g.216324204T>C | CA344911466 | USH2A | c.1292A>G (p.Glu431Gly)
| |
1 | g.216324204T>G | CA344911468 | USH2A | c.1292A>C (p.Glu431Ala)
| |
1 | g.216324205C>A | CA344911470 | USH2A | c.1291G>T (p.Glu431Ter)
| |
1 | g.216324205C>G | CA344911472 | USH2A | c.1291G>C (p.Glu431Gln)
| |
1 | g.216324205C>T | CA344911471 | USH2A | c.1291G>A (p.Glu431Lys)
| COSMIC COSMIC COSMIC |
1 | g.216324206C>A | CA344911473 | USH2A | c.1290G>T (p.Leu430Phe)
| |
1 | g.216324206C>G | CA344911474 | USH2A | c.1290G>C (p.Leu430Phe)
| |
1 | g.216324206C>T | CA423397853 | USH2A | c.1290G>A (p.Leu430=)
| |
1 | g.216324207A>C | CA344911476 | USH2A | c.1289T>G (p.Leu430Trp)
| |
1 | g.216324207A>G | CA344911478 | USH2A | c.1289T>C (p.Leu430Ser)
| |
1 | g.216324207A>T | CA344911480 | USH2A | c.1289T>A (p.Leu430Ter)
| |
1 | g.216324208A>C | CA344911481 | USH2A | c.1288T>G (p.Leu430Val)
| |
1 | g.216324208A>G | CA423397854 | USH2A | c.1288T>C (p.Leu430=)
| |
1 | g.216324208A>T | CA344911486 | USH2A | c.1288T>A (p.Leu430Met)
| |
1 | g.216324209A>C | CA344911488 | USH2A | c.1287T>G (p.Asp429Glu)
| |
1 | g.216324209A>G | CA423397855 | USH2A | c.1287T>C (p.Asp429=)
| |
1 | g.216324209A>T | CA344911489 | USH2A | c.1287T>A (p.Asp429Glu)
| |
1 | g.216324210T>A | CA344911491 | USH2A | c.1286A>T (p.Asp429Val)
| |
1 | g.216324210T>C | CA344911493 | USH2A | c.1286A>G (p.Asp429Gly)
| |
1 | g.216324210T>G | CA344911494 | USH2A | c.1286A>C (p.Asp429Ala)
| |
1 | g.216324211C>A | CA344911499 | USH2A | c.1285G>T (p.Asp429Tyr)
| |
1 | g.216324211C>G | CA344911496 | USH2A | c.1285G>C (p.Asp429His)
| |
1 | g.216324211C>T | CA344911497 | USH2A | c.1285G>A (p.Asp429Asn)
| gnomAD v4 |
1 | g.216324212T>A | CA423397856 | USH2A | c.1284A>T (p.Gly428=)
| gnomAD v4 |
1 | g.216324212T>C | CA423397858 | USH2A | c.1284A>G (p.Gly428=)
| gnomAD v4 |
1 | g.216324212T>G | CA423397857 | USH2A | c.1284A>C (p.Gly428=)
| gnomAD v4 |
1 | g.216324213C>A | CA344911501 | USH2A | c.1283G>T (p.Gly428Val)
| |
1 | g.216324213C= | CA1143403951 | USH2A | c.1283G= (p.Gly428=)
| |
1 | g.216324213C>G | CA344911502 | USH2A | c.1283G>C (p.Gly428Ala)
| |
1 | g.216324213C>T | CA1396557 | USH2A | c.1283G>A (p.Gly428Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216324214C>A | CA344911507 | USH2A | c.1282G>T (p.Gly428Ter)
| |
1 | g.216324214C>G | CA344911509 | USH2A | c.1282G>C (p.Gly428Arg)
| |
1 | g.216324214C>T | CA344911511 | USH2A | c.1282G>A (p.Gly428Arg)
| |
1 | g.216324215A= | CA1220652441 | USH2A | c.1281T= (p.Asn427=)
| |
1 | g.216324215A>C | CA344911512 | USH2A | c.1281T>G (p.Asn427Lys)
| |
1 | g.216324215A>G | CA423397859 | USH2A | c.1281T>C (p.Asn427=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.216324215A>T | CA344911514 | USH2A | c.1281T>A (p.Asn427Lys)
| |
1 | g.216324216T>A | CA344911517 | USH2A | c.1280A>T (p.Asn427Ile)
| |
1 | g.216324216T>C | CA344911518 | USH2A | c.1280A>G (p.Asn427Ser)
| dbSNP gnomAD v4 |
1 | g.216324216T>G | CA344911519 | USH2A | c.1280A>C (p.Asn427Thr)
| |
1 | g.216324216T= | CA1220652442 | USH2A | c.1280A= (p.Asn427=)
| |
1 | g.216324216_216324217del | CA2695200018 | USH2A | c.1279_1280del (p.Asn427TrpfsTer7)
| ClinVar |
1 | g.216324217T>A | CA344911525 | USH2A | c.1279A>T (p.Asn427Tyr)
| gnomAD v4 |
1 | g.216324217T>C | CA344911523 | USH2A | c.1279A>G (p.Asn427Asp)
| |
1 | g.216324217T>G | CA344911522 | USH2A | c.1279A>C (p.Asn427His)
| |
1 | g.216324218G>A | CA423397860 | USH2A | c.1278C>T (p.Asn426=)
| |
1 | g.216324218G>C | CA344911528 | USH2A | c.1278C>G (p.Asn426Lys)
| |
1 | g.216324218G= | CA1220652443 | USH2A | c.1278C= (p.Asn426=)
| |
1 | g.216324218G>T | CA344911529 | USH2A | c.1278C>A (p.Asn426Lys)
| dbSNP gnomAD v2 |
1 | g.216324219T>A | CA344911530 | USH2A | c.1277A>T (p.Asn426Ile)
| |
1 | g.216324219T>C | CA1396558 | USH2A | c.1277A>G (p.Asn426Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324219T>G | CA344911532 | USH2A | c.1277A>C (p.Asn426Thr)
| |
1 | g.216324219T= | CA1220652444 | USH2A | c.1277A= (p.Asn426=)
| |
1 | g.216324223dup | CA916082150 | USH2A | c.1277dup (p.Asn426LysfsTer9)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324220T>A | CA344911534 | USH2A | c.1276A>T (p.Asn426Tyr)
| |
1 | g.216324220T>C | CA344911536 | USH2A | c.1276A>G (p.Asn426Asp)
| |
1 | g.216324220T>G | CA344911537 | USH2A | c.1276A>C (p.Asn426His)
| |
1 | g.216324221T>A | CA344911544 | USH2A | c.1275A>T (p.Lys425Asn)
| |
1 | g.216324221T>C | CA423397861 | USH2A | c.1275A>G (p.Lys425=)
| |
1 | g.216324221T>G | CA344911539 | USH2A | c.1275A>C (p.Lys425Asn)
| |
1 | g.216324222T>A | CA344911545 | USH2A | c.1274A>T (p.Lys425Ile)
| |
1 | g.216324222T>C | CA344911547 | USH2A | c.1274A>G (p.Lys425Arg)
| |
1 | g.216324222T>G | CA344911549 | USH2A | c.1274A>C (p.Lys425Thr)
| |
1 | g.216324223T>A | CA344911551 | USH2A | c.1273A>T (p.Lys425Ter)
| |
1 | g.216324223T>C | CA344911553 | USH2A | c.1273A>G (p.Lys425Glu)
| gnomAD v4 |
1 | g.216324223T>G | CA344911555 | USH2A | c.1273A>C (p.Lys425Gln)
| |
1 | g.216324224C>A | CA344911557 | USH2A | c.1272G>T (p.Met424Ile)
| |
1 | g.216324224C>G | CA344911560 | USH2A | c.1272G>C (p.Met424Ile)
| |
1 | g.216324224C>T | CA344911559 | USH2A | c.1272G>A (p.Met424Ile)
| |
1 | g.216324225del | CA2586968400 | USH2A | c.1271del (p.Met424ArgfsTer?)
| |
1 | g.216324225A>C | CA344911561 | USH2A | c.1271T>G (p.Met424Arg)
| |
1 | g.216324225A>G | CA344911562 | USH2A | c.1271T>C (p.Met424Thr)
| |
1 | g.216324225A>T | CA344911563 | USH2A | c.1271T>A (p.Met424Lys)
| |
1 | g.216324226T>A | CA344911564 | USH2A | c.1270A>T (p.Met424Leu)
| ClinVar dbSNP |
1 | g.216324226T>C | CA344911566 | USH2A | c.1270A>G (p.Met424Val)
| |
1 | g.216324226T>G | CA344911567 | USH2A | c.1270A>C (p.Met424Leu)
| |
1 | g.216324227T>A | CA423397862 | USH2A | c.1269A>T (p.Gly423=)
| |
1 | g.216324227T>C | CA1396559 | USH2A | c.1269A>G (p.Gly423=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324227T>G | CA423397863 | USH2A | c.1269A>C (p.Gly423=)
| |
1 | g.216324227T= | CA1146571727 | USH2A | c.1269A= (p.Gly423=)
| |
1 | g.216324228C>A | CA344911569 | USH2A | c.1268G>T (p.Gly423Val)
| |
1 | g.216324228C= | CA1220652445 | USH2A | c.1268G= (p.Gly423=)
| |
1 | g.216324228C>G | CA344911571 | USH2A | c.1268G>C (p.Gly423Ala)
| gnomAD v4 |
1 | g.216324228C>T | CA1396560 | USH2A | c.1268G>A (p.Gly423Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324229C>A | CA344911578 | USH2A | c.1267G>T (p.Gly423Ter)
| ClinVar |
1 | g.216324229C= | CA1220652446 | USH2A | c.1267G= (p.Gly423=)
| |
1 | g.216324229C>G | CA344911577 | USH2A | c.1267G>C (p.Gly423Arg)
| gnomAD v4 |
1 | g.216324229C>T | CA344911576 | USH2A | c.1267G>A (p.Gly423Arg)
| dbSNP gnomAD v4 |
1 | g.216324230A>C | CA344911579 | USH2A | c.1266T>G (p.Phe422Leu)
| |
1 | g.216324230A>G | CA423397864 | USH2A | c.1266T>C (p.Phe422=)
| |
1 | g.216324230A>T | CA344911580 | USH2A | c.1266T>A (p.Phe422Leu)
| |
1 | g.216324231A>C | CA344911582 | USH2A | c.1265T>G (p.Phe422Cys)
| |
1 | g.216324231A>G | CA344911584 | USH2A | c.1265T>C (p.Phe422Ser)
| |
1 | g.216324231A>T | CA344911586 | USH2A | c.1265T>A (p.Phe422Tyr)
| |
1 | g.216324232A>C | CA344911591 | USH2A | c.1264T>G (p.Phe422Val)
| |
1 | g.216324232A>G | CA344911596 | USH2A | c.1264T>C (p.Phe422Leu)
| |
1 | g.216324232A>T | CA344911598 | USH2A | c.1264T>A (p.Phe422Ile)
| |
1 | g.216324233A>C | CA423397867 | USH2A | c.1263T>G (p.Ala421=)
| |
1 | g.216324233A>G | CA423397866 | USH2A | c.1263T>C (p.Ala421=)
| |
1 | g.216324233A>T | CA423397865 | USH2A | c.1263T>A (p.Ala421=)
| |
1 | g.216324234G>A | CA344911600 | USH2A | c.1262C>T (p.Ala421Val)
| |
1 | g.216324234G>C | CA344911602 | USH2A | c.1262C>G (p.Ala421Gly)
| |
1 | g.216324234G>T | CA344911603 | USH2A | c.1262C>A (p.Ala421Asp)
| |
1 | g.216324234_216324237delinsGCAC | CA1220652447 | USH2A | c.1259_1262delinsGTGC (p.Gly420=)
| |
1 | g.216324235C>A | CA344911606 | USH2A | c.1261G>T (p.Ala421Ser)
| |
1 | g.216324235C= | CA1220652448 | USH2A | c.1261G= (p.Ala421=)
| |
1 | g.216324235C>G | CA344911607 | USH2A | c.1261G>C (p.Ala421Pro)
| |
1 | g.216324235C>T | CA1396562 | USH2A | c.1261G>A (p.Ala421Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324238_216324240del | CA1396561 | USH2A | c.1259_1261del (p.Gly420del)
| dbSNP ExAC gnomAD v4 |
1 | g.216324236A>C | CA423397870 | USH2A | c.1260T>G (p.Gly420=)
| |
1 | g.216324236A>G | CA423397869 | USH2A | c.1260T>C (p.Gly420=)
| ClinVar gnomAD v4 |
1 | g.216324236A>T | CA423397868 | USH2A | c.1260T>A (p.Gly420=)
| |
1 | g.216324237C>A | CA344911610 | USH2A | c.1259G>T (p.Gly420Val)
| gnomAD v4 |
1 | g.216324237C= | CA1220652449 | USH2A | c.1259G= (p.Gly420=)
| |
1 | g.216324237C>G | CA344911612 | USH2A | c.1259G>C (p.Gly420Ala)
| |
1 | g.216324237C>T | CA1396563 | USH2A | c.1259G>A (p.Gly420Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216324238C>A | CA344911614 | USH2A | c.1258G>T (p.Gly420Cys)
| |
1 | g.216324238C= | CA1220652450 | USH2A | c.1258G= (p.Gly420=)
| |
1 | g.216324238C>G | CA344911616 | USH2A | c.1258G>C (p.Gly420Arg)
| |
1 | g.216324238C>T | CA344911618 | USH2A | c.1258G>A (p.Gly420Ser)
| ClinVar dbSNP gnomAD v4 |
1 | g.216324239A>C | CA344911619 | USH2A | c.1257T>G (p.Cys419Trp)
| |
1 | g.216324239A>G | CA423397872 | USH2A | c.1257T>C (p.Cys419=)
| |
1 | g.216324239A>T | CA344911620 | USH2A | c.1257T>A (p.Cys419Ter)
| |
1 | g.216324240C>A | CA252239 | USH2A | c.1256G>T (p.Cys419Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216324240C= | CA1141581514 | USH2A | c.1256G= (p.Cys419=)
| |
1 | g.216324240C>G | CA344911621 | USH2A | c.1256G>C (p.Cys419Ser)
| |
1 | g.216324240C>T | CA344911622 | USH2A | c.1256G>A (p.Cys419Tyr)
| gnomAD v4 |
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)
| |