| 1 | g.215867152A= | CA1220455703 | USH2A | c.8700T= (p.Tyr2900=)
| |
| 1 | g.215867152A>C | CA344851492 | USH2A | c.8700T>G (p.Tyr2900Ter)
| |
| 1 | g.215867152A>G | CA423313987 | USH2A | c.8700T>C (p.Tyr2900=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867152A>T | CA344851493 | USH2A | c.8700T>A (p.Tyr2900Ter)
| |
| 1 | g.215867153T>A | CA344851494 | USH2A | c.8699A>T (p.Tyr2900Phe)
| |
| 1 | g.215867153T>C | CA344851496 | USH2A | c.8699A>G (p.Tyr2900Cys)
| |
| 1 | g.215867153T>G | CA344851495 | USH2A | c.8699A>C (p.Tyr2900Ser)
| |
| 1 | g.215867154A>C | CA344851497 | USH2A | c.8698T>G (p.Tyr2900Asp)
| |
| 1 | g.215867154A>G | CA344851499 | USH2A | c.8698T>C (p.Tyr2900His)
| |
| 1 | g.215867154A>T | CA344851498 | USH2A | c.8698T>A (p.Tyr2900Asn)
| |
| 1 | g.215867155T>A | CA344851500 | USH2A | c.8697A>T (p.Glu2899Asp)
| |
| 1 | g.215867155T>C | CA423313988 | USH2A | c.8697A>G (p.Glu2899=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867155T>G | CA344851501 | USH2A | c.8697A>C (p.Glu2899Asp)
| |
| 1 | g.215867155T= | CA1220455704 | USH2A | c.8697A= (p.Glu2899=)
| |
| 1 | g.215867155_215867156insAGTC | CA2747724325 | USH2A | c.8696_8697insGACT (p.Tyr2900ThrfsTer?)
| |
| 1 | g.215867156T>A | CA344851502 | USH2A | c.8696A>T (p.Glu2899Val)
| |
| 1 | g.215867156T>C | CA344851503 | USH2A | c.8696A>G (p.Glu2899Gly)
| dbSNP |
| 1 | g.215867156T>G | CA344851504 | USH2A | c.8696A>C (p.Glu2899Ala)
| |
| 1 | g.215867156T= | CA1220455705 | USH2A | c.8696A= (p.Glu2899=)
| |
| 1 | g.215867157C>A | CA344851505 | USH2A | c.8695G>T (p.Glu2899Ter)
| |
| 1 | g.215867157C= | CA1220455706 | USH2A | c.8695G= (p.Glu2899=)
| |
| 1 | g.215867157C>G | CA344851506 | USH2A | c.8695G>C (p.Glu2899Gln)
| |
| 1 | g.215867157C>T | CA37459536 | USH2A | c.8695G>A (p.Glu2899Lys)
| dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 1 | g.215867158A>C | CA344851507 | USH2A | c.8694T>G (p.Tyr2898Ter)
| |
| 1 | g.215867158A>G | CA423313990 | USH2A | c.8694T>C (p.Tyr2898=)
| ClinVar dbSNP |
| 1 | g.215867158A>T | CA344851508 | USH2A | c.8694T>A (p.Tyr2898Ter)
| dbSNP |
| 1 | g.215867159T>A | CA344851509 | USH2A | c.8693A>T (p.Tyr2898Phe)
| |
| 1 | g.215867159T>C | CA344851510 | USH2A | c.8693A>G (p.Tyr2898Cys)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215867159T>G | CA344851511 | USH2A | c.8693A>C (p.Tyr2898Ser)
| ClinVar dbSNP |
| 1 | g.215867159T= | CA1220455707 | USH2A | c.8693A= (p.Tyr2898=)
| |
| 1 | g.215867160A= | CA1220455708 | USH2A | c.8692T= (p.Tyr2898=)
| |
| 1 | g.215867160A>C | CA344851514 | USH2A | c.8692T>G (p.Tyr2898Asp)
| |
| 1 | g.215867160A>G | CA344851513 | USH2A | c.8692T>C (p.Tyr2898His)
| dbSNP |
| 1 | g.215867160A>T | CA344851512 | USH2A | c.8692T>A (p.Tyr2898Asn)
| |
| 1 | g.215867161G>A | CA423313992 | USH2A | c.8691C>T (p.Thr2897=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867161G>C | CA423313994 | USH2A | c.8691C>G (p.Thr2897=)
| |
| 1 | g.215867161G= | CA1220455709 | USH2A | c.8691C= (p.Thr2897=)
| |
| 1 | g.215867161G>T | CA423313995 | USH2A | c.8691C>A (p.Thr2897=)
| |
| 1 | g.215867162G>A | CA344851515 | USH2A | c.8690C>T (p.Thr2897Ile)
| gnomAD v4 |
| 1 | g.215867162G>C | CA344851516 | USH2A | c.8690C>G (p.Thr2897Ser)
| |
| 1 | g.215867162G>T | CA344851517 | USH2A | c.8690C>A (p.Thr2897Asn)
| COSMIC |
| 1 | g.215867163T>A | CA344851518 | USH2A | c.8689A>T (p.Thr2897Ser)
| |
| 1 | g.215867163T>C | CA1394534 | USH2A | c.8689A>G (p.Thr2897Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867163T>G | CA344851519 | USH2A | c.8689A>C (p.Thr2897Pro)
| |
| 1 | g.215867163T= | CA1220455710 | USH2A | c.8689A= (p.Thr2897=)
| |
| 1 | g.215867163_215867164insACA | CA2747724326 | USH2A | c.8688_8689insTGT (p.Thr2896_Thr2897insCys)
| |
| 1 | g.215867164T>A | CA423313997 | USH2A | c.8688A>T (p.Thr2896=)
| |
| 1 | g.215867164T>C | CA423313998 | USH2A | c.8688A>G (p.Thr2896=)
| |
| 1 | g.215867164T>G | CA423313999 | USH2A | c.8688A>C (p.Thr2896=)
| |
| 1 | g.215867165del | CA2830534970 | USH2A | c.8687del (p.Thr2896LysfsTer21)
| |
| 1 | g.215867165G>A | CA344851520 | USH2A | c.8687C>T (p.Thr2896Ile)
| ClinVar dbSNP |
| 1 | g.215867165G>C | CA344851521 | USH2A | c.8687C>G (p.Thr2896Arg)
| |
| 1 | g.215867165G= | CA1220455711 | USH2A | c.8687C= (p.Thr2896=)
| |
| 1 | g.215867165G>T | CA344851522 | USH2A | c.8687C>A (p.Thr2896Lys)
| |
| 1 | g.215867166T>A | CA344851523 | USH2A | c.8686A>T (p.Thr2896Ser)
| |
| 1 | g.215867166T>C | CA344851524 | USH2A | c.8686A>G (p.Thr2896Ala)
| gnomAD v4 |
| 1 | g.215867166T>G | CA344851525 | USH2A | c.8686A>C (p.Thr2896Pro)
| |
| 1 | g.215867170_215867175del | CA2650504862 | USH2A | c.8682-1_8686del
| gnomAD v4 |
| 1 | g.215867167A= | CA1220455712 | USH2A | c.8685T= (p.Phe2895=)
| |
| 1 | g.215867167A>C | CA37459548 | USH2A | c.8685T>G (p.Phe2895Leu)
| dbSNP |
| 1 | g.215867167A>G | CA423314000 | USH2A | c.8685T>C (p.Phe2895=)
| |
| 1 | g.215867167A>T | CA344851526 | USH2A | c.8685T>A (p.Phe2895Leu)
| |
| 1 | g.215867167_215867168insC | CA2830534974 | USH2A | c.8684_8685insG (p.Phe2895LeufsTer5)
| |
| 1 | g.215867168A>C | CA344851527 | USH2A | c.8684T>G (p.Phe2895Cys)
| |
| 1 | g.215867168A>G | CA344851528 | USH2A | c.8684T>C (p.Phe2895Ser)
| |
| 1 | g.215867168A>T | CA344851529 | USH2A | c.8684T>A (p.Phe2895Tyr)
| |
| 1 | g.215867169A= | CA1220455714 | USH2A | c.8683T= (p.Phe2895=)
| |
| 1 | g.215867169A>C | CA344851530 | USH2A | c.8683T>G (p.Phe2895Val)
| |
| 1 | g.215867169A>G | CA37459549 | USH2A | c.8683T>C (p.Phe2895Leu)
| dbSNP gnomAD v4 |
| 1 | g.215867169A>T | CA344851531 | USH2A | c.8683T>A (p.Phe2895Ile)
| |
| 1 | g.215867169_215867170delinsAC | CA1220455713 | USH2A | c.8682_8683delinsGT (p.Arg2894=)
| |
| 1 | g.215867170C>A | CA344851532 | USH2A | c.8682G>T (p.Arg2894Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867170C= | CA1220455715 | USH2A | c.8682G= (p.Arg2894=)
| |
| 1 | g.215867170C>G | CA344851533 | USH2A | c.8682G>C (p.Arg2894Ser)
| |
| 1 | g.215867170C>T | CA1394535 | USH2A | c.8682G>A (p.Arg2894=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867170_215867171delinsCC | CA1144233394 | USH2A | c.8682-1_8682delinsGG
| |
| 1 | g.215867171del | CA270161 | USH2A | c.8682del
| ClinVar dbSNP |
| 1 | g.215867171C>A | CA344851534 | USH2A | c.8682-1G>T (n.8682-1G>T)
| COSMIC COSMIC |
| 1 | g.215867171C= | CA1220455716 | USH2A | c.8682-1G= (n.8682-1G=)
| |
| 1 | g.215867171C>G | CA344851535 | USH2A | c.8682-1G>C (n.8682-1G>C)
| |
| 1 | g.215867171C>T | CA344851536 | USH2A | c.8682-1G>A (n.8682-1G>A)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867171_215867173delinsTT | CA2695199997 | USH2A | c.8682-3_8682-1delinsAA (n.8682-3_8682-1delinsAA)
| ClinVar |
| 1 | g.215867172T>A | CA344851539 | USH2A | c.8682-2A>T (n.8682-2A>T)
| |
| 1 | g.215867172T>C | CA344851537 | USH2A | c.8682-2A>G (n.8682-2A>G)
| |
| 1 | g.215867172T>G | CA344851538 | USH2A | c.8682-2A>C (n.8682-2A>C)
| ClinVar dbSNP |
| 1 | g.215867172T= | CA1220455717 | USH2A | c.8682-2A= (n.8682-2A=)
| |
| 1 | g.215867173A= | CA1220455718 | USH2A | c.8682-3T= (n.8682-3T=)
| |
| 1 | g.215867173A>C | CA1394536 | USH2A | c.8682-3T>G (n.8682-3T>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867174_215867176del | CA2830534975 | USH2A | c.8682-5_8682-3del (n.8682-5_8682-3del)
| |
| 1 | g.215867178_215867313del | CA2747724327 | USH2A | c.8682-138_8682-3del (n.8682-138_8682-3del)
| |
| 1 | g.215867173_215867174insGTC | CA2747724328 | USH2A | c.8682-4_8682-3insGAC (n.8682-4_8682-3insGAC)
| |
| 1 | g.215867174A>C | CA2574133185 | USH2A | c.8682-4T>G (n.8682-4T>G)
| gnomAD v4 |
| 1 | g.215867175A= | CA1220455719 | USH2A | c.8682-5T= (n.8682-5T=)
| |
| 1 | g.215867175A>G | CA916082123 | USH2A | c.8682-5T>C (n.8682-5T>C)
| ClinVar dbSNP |
| 1 | g.215867176A= | CA1220455720 | USH2A | c.8682-6T= (n.8682-6T=)
| |
| 1 | g.215867181_215867183dup | CA529002456 | USH2A | c.8682-9_8682-7dup (n.8682-9_8682-7dup)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867181_215867183del | CA2650504863 | USH2A | c.8682-9_8682-7del (n.8682-9_8682-7del)
| gnomAD v4 |
| 1 | g.215867178G>A | CA529002457 | USH2A | c.8682-8C>T (n.8682-8C>T)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867178G= | CA1220455721 | USH2A | c.8682-8C= (n.8682-8C=)
| |
| 1 | g.215867179T>C | CA275277 | USH2A | c.8682-9A>G (n.8682-9A>G)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867179T= | CA1143856721 | USH2A | c.8682-9A= (n.8682-9A=)
| |
| 1 | g.215867184_215867188del | CA2747724329 | USH2A | c.8682-13_8682-9del (n.8682-13_8682-9del)
| |
| 1 | g.215867185del | CA2739275591 | USH2A | c.8682-12del (n.8682-12del)
| ClinVar |
| 1 | g.215867182_215867183insAG | CA2747724330 | USH2A | c.8682-13_8682-12insCT (n.8682-13_8682-12insCT)
| |
| 1 | g.215867183T>C | CA2650504864 | USH2A | c.8682-13A>G (n.8682-13A>G)
| gnomAD v4 |
| 1 | g.215867186_215867188del | CA2747724331 | USH2A | c.8682-16_8682-14del (n.8682-16_8682-14del)
| |
| 1 | g.215867184_215867185insAC | CA2747724332 | USH2A | c.8682-15_8682-14insGT (n.8682-15_8682-14insGT)
| |
| 1 | g.215867185T>A | CA2747724333 | USH2A | c.8682-15A>T (n.8682-15A>T)
| |
| 1 | g.215867185T>G | CA1220455723 | USH2A | c.8682-15A>C (n.8682-15A>C)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215867185T= | CA1220455722 | USH2A | c.8682-15A= (n.8682-15A=)
| |
| 1 | g.215867185_215867186insAGA | CA2747724334 | USH2A | c.8682-16_8682-15insTCT (n.8682-16_8682-15insTCT)
| |
| 1 | g.215867186G>A | CA2574133186 | USH2A | c.8682-16C>T (n.8682-16C>T)
| gnomAD v4 |
| 1 | g.215867186G>C | CA916082124 | USH2A | c.8682-16C>G (n.8682-16C>G)
| ClinVar dbSNP |
| 1 | g.215867186G= | CA1220455724 | USH2A | c.8682-16C= (n.8682-16C=)
| |
| 1 | g.215867186G>T | CA37459582 | USH2A | c.8682-16C>A (n.8682-16C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867187T>A | CA2650504865 | USH2A | c.8682-17A>T (n.8682-17A>T)
| gnomAD v4 |
| 1 | g.215867187T>C | CA658823359 | USH2A | c.8682-17A>G (n.8682-17A>G)
| ClinVar dbSNP |
| 1 | g.215867187T>G | CA1012205728 | USH2A | c.8682-17A>C (n.8682-17A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867187T= | CA1220455725 | USH2A | c.8682-17A= (n.8682-17A=)
| |
| 1 | g.215867188T>C | CA2747724336 | USH2A | c.8682-18A>G (n.8682-18A>G)
| |
| 1 | g.215867188_215867189delinsTA | CA1220455726 | USH2A | c.8682-19_8682-18delinsTA (n.8682-19_8682-18delinsTA)
| |
| 1 | g.215867188_215867192del | CA2747724335 | USH2A | c.8682-22_8682-18del (n.8682-22_8682-18del)
| |
| 1 | g.215867189A= | CA1220455727 | USH2A | c.8682-19T= (n.8682-19T=)
| |
| 1 | g.215867189A>T | CA529002459 | USH2A | c.8682-19T>A (n.8682-19T>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867195dup | CA1394537 | USH2A | c.8682-19dup (n.8682-19dup)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867195del | CA529002458 | USH2A | c.8682-19del (n.8682-19del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215867190A= | CA1220455728 | USH2A | c.8682-20T= (n.8682-20T=)
| |
| 1 | g.215867190A>C | CA2747724337 | USH2A | c.8682-20T>G (n.8682-20T>G)
| |
| 1 | g.215867190A>G | CA37459591 | USH2A | c.8682-20T>C (n.8682-20T>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867191A>C | CA2650504866 | USH2A | c.8682-21T>G (n.8682-21T>G)
| gnomAD v4 |
| 1 | g.215867191A>G | CA2650504867 | USH2A | c.8682-21T>C (n.8682-21T>C)
| gnomAD v4 |
| 1 | g.215867192A>C | CA2650504868 | USH2A | c.8682-22T>G (n.8682-22T>G)
| gnomAD v4 |
| 1 | g.215867194A>C | CA2747724338 | USH2A | c.8682-24T>G (n.8682-24T>G)
| |
| 1 | g.215867194A>G | CA2747724339 | USH2A | c.8682-24T>C (n.8682-24T>C)
| |
| 1 | g.215867195_215867198dup | CA2650504869 | USH2A | c.8682-27_8682-24dup (n.8682-27_8682-24dup)
| gnomAD v4 |
| 1 | g.215867195A>G | CA2650504870 | USH2A | c.8682-25T>C (n.8682-25T>C)
| gnomAD v4 |
| 1 | g.215867198A= | CA1220455729 | USH2A | c.8682-28T= (n.8682-28T=)
| |
| 1 | g.215867198A>G | CA529002460 | USH2A | c.8682-28T>C (n.8682-28T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867199T>C | CA37459598 | USH2A | c.8682-29A>G (n.8682-29A>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867199T>G | CA731386359 | USH2A | c.8682-29A>C (n.8682-29A>C)
| dbSNP |
| 1 | g.215867199T= | CA1220455730 | USH2A | c.8682-29A= (n.8682-29A=)
| |
| 1 | g.215867201T>A | CA2747724340 | USH2A | c.8682-31A>T (n.8682-31A>T)
| |
| 1 | g.215867201T>C | CA1394538 | USH2A | c.8682-31A>G (n.8682-31A>G)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867201T= | CA1220455731 | USH2A | c.8682-31A= (n.8682-31A=)
| |
| 1 | g.215867202G>A | CA2747724341 | USH2A | c.8682-32C>T (n.8682-32C>T)
| |
| 1 | g.215867202G= | CA1220455732 | USH2A | c.8682-32C= (n.8682-32C=)
| |
| 1 | g.215867202G>T | CA1220455733 | USH2A | c.8682-32C>A (n.8682-32C>A)
| dbSNP |
| 1 | g.215867203A>G | CA2747724342 | USH2A | c.8682-33T>C (n.8682-33T>C)
| |
| 1 | g.215867203_215867204insC | CA2747724343 | USH2A | c.8682-34_8682-33insG (n.8682-34_8682-33insG)
| |
| 1 | g.215867204A>G | CA2574133187 | USH2A | c.8682-34T>C (n.8682-34T>C)
| |
| 1 | g.215867205_215867206insACA | CA2747724344 | USH2A | c.8682-36_8682-35insTGT (n.8682-36_8682-35insTGT)
| |
| 1 | g.215867205_215867206insAGG | CA2747724345 | USH2A | c.8682-36_8682-35insCCT (n.8682-36_8682-35insCCT)
| |
| 1 | g.215867206T>G | CA529002461 | USH2A | c.8682-36A>C (n.8682-36A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867206T= | CA1220455734 | USH2A | c.8682-36A= (n.8682-36A=)
| |
| 1 | g.215867207T>C | CA2650504871 | USH2A | c.8682-37A>G (n.8682-37A>G)
| gnomAD v4 |
| 1 | g.215867208C>G | CA2650504872 | USH2A | c.8682-38G>C (n.8682-38G>C)
| gnomAD v4 |
| 1 | g.215867210_215867212del | CA2574133188 | USH2A | c.8682-40_8682-38del (n.8682-40_8682-38del)
| |
| 1 | g.215867209T>C | CA2650504873 | USH2A | c.8682-39A>G (n.8682-39A>G)
| gnomAD v4 |
| 1 | g.215867210A= | CA1220455735 | USH2A | c.8682-40T= (n.8682-40T=)
| |
| 1 | g.215867210A>C | CA1220455736 | USH2A | c.8682-40T>G (n.8682-40T>G)
| dbSNP |
| 1 | g.215867210A>G | CA37459602 | USH2A | c.8682-40T>C (n.8682-40T>C)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867211C= | CA1220455737 | USH2A | c.8682-41G= (n.8682-41G=)
| |
| 1 | g.215867211C>T | CA37459603 | USH2A | c.8682-41G>A (n.8682-41G>A)
| dbSNP gnomAD v4 |
| 1 | g.215867213T>C | CA2650504874 | USH2A | c.8682-43A>G (n.8682-43A>G)
| gnomAD v4 |
| 1 | g.215867214T>C | CA2574133189 | USH2A | c.8682-44A>G (n.8682-44A>G)
| gnomAD v4 |
| 1 | g.215867214_215867216del | CA2747724346 | USH2A | c.8682-46_8682-44del (n.8682-46_8682-44del)
| |
| 1 | g.215867224_215867313del | CA2747724347 | USH2A | c.8682-136_8682-47del (n.8682-136_8682-47del)
| |
| 1 | g.215867218G>C | CA423314012 | USH2A | c.8682-48C>G (n.8682-48C>G)
| |
| 1 | g.215867219A>C | CA2650504875 | USH2A | c.8682-49T>G (n.8682-49T>G)
| gnomAD v4 |
| 1 | g.215867219_215867222del | CA2747724348 | USH2A | c.8682-52_8682-49del (n.8682-52_8682-49del)
| |
| 1 | g.215867219_215867220insGAC | CA2747724349 | USH2A | c.8682-50_8682-49insGTC (n.8682-50_8682-49insGTC)
| |
| 1 | g.215867221A>T | CA2650504876 | USH2A | c.8682-51T>A (n.8682-51T>A)
| gnomAD v4 |
| 1 | g.215867222A= | CA1220455738 | USH2A | c.8682-52T= (n.8682-52T=)
| |
| 1 | g.215867222A>G | CA1394539 | USH2A | c.8682-52T>C (n.8682-52T>C)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215867223T>A | CA2581729680 | USH2A | c.8682-53A>T (n.8682-53A>T)
| |
| 1 | g.215867223T>C | CA37459616 | USH2A | c.8682-53A>G (n.8682-53A>G)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867223T>G | CA2581729681 | USH2A | c.8682-53A>C (n.8682-53A>C)
| |
| 1 | g.215867223T= | CA1141495339 | USH2A | c.8682-53A= (n.8682-53A=)
| |
| 1 | g.215867224_215867225del | CA2747724350 | USH2A | c.8682-54_8682-53del (n.8682-54_8682-53del)
| |
| 1 | g.215867223_215867224insAGC | CA2747724351 | USH2A | c.8682-54_8682-53insGCT (n.8682-54_8682-53insGCT)
| |
| 1 | g.215867224C>G | CA2574133190 | USH2A | c.8682-54G>C (n.8682-54G>C)
| gnomAD v4 |
| 1 | g.215867224_215867226del | CA2747724352 | USH2A | c.8682-56_8682-54del (n.8682-56_8682-54del)
| |
| 1 | g.215867225T>A | CA2747724354 | USH2A | c.8682-55A>T (n.8682-55A>T)
| |
| 1 | g.215867225_215867226del | CA2747724353 | USH2A | c.8682-56_8682-55del (n.8682-56_8682-55del)
| |
| 1 | g.215867226A>C | CA2747724355 | USH2A | c.8682-56T>G (n.8682-56T>G)
| |
| 1 | g.215867228_215867229del | CA2650504877 | USH2A | c.8682-58_8682-57del (n.8682-58_8682-57del)
| gnomAD v4 |
| 1 | g.215867227_215867260del | CA2747724356 | USH2A | c.8682-90_8682-57del (n.8682-90_8682-57del)
| |
| 1 | g.215867228del | CA2747724357 | USH2A | c.8682-58del (n.8682-58del)
| |
| 1 | g.215867228_215867229insTC | CA2747724358 | USH2A | c.8682-58_8682-57insAG (n.8682-58_8682-57insAG)
| |
| 1 | g.215867228_215867229delinsCA | CA1220455740 | USH2A | c.8682-59_8682-58delinsTG (n.8682-59_8682-58delinsTG)
| |
| 1 | g.215867228_215867232delinsCAAAT | CA1220455739 | USH2A | c.8682-62_8682-58delinsATTTG (n.8682-62_8682-58delinsATTTG)
| |
| 1 | g.215867229A>G | CA2565626707 | USH2A | c.8682-59T>C (n.8682-59T>C)
| gnomAD v4 |
| 1 | g.215867231del | CA1220455741 | USH2A | c.8682-59del (n.8682-59del)
| dbSNP gnomAD v4 |
| 1 | g.215867231_215867234del | CA731386369 | USH2A | c.8682-62_8682-59del (n.8682-62_8682-59del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867230A= | CA1220455742 | USH2A | c.8682-60T= (n.8682-60T=)
| |
| 1 | g.215867230A>C | CA2747724359 | USH2A | c.8682-60T>G (n.8682-60T>G)
| |
| 1 | g.215867230A>G | CA1220455743 | USH2A | c.8682-60T>C (n.8682-60T>C)
| dbSNP gnomAD v4 |
| 1 | g.215867230A>T | CA2747724360 | USH2A | c.8682-60T>A (n.8682-60T>A)
| |
| 1 | g.215867232_215867233del | CA2747724361 | USH2A | c.8682-62_8682-61del (n.8682-62_8682-61del)
| |
| 1 | g.215867233A>C | CA2747724362 | USH2A | c.8682-63T>G (n.8682-63T>G)
| |
| 1 | g.215867233A>G | CA2574133191 | USH2A | c.8682-63T>C (n.8682-63T>C)
| gnomAD v4 |
| 1 | g.215867234A>C | CA2650504878 | USH2A | c.8682-64T>G (n.8682-64T>G)
| gnomAD v4 |
| 1 | g.215867234A>G | CA2574133192 | USH2A | c.8682-64T>C (n.8682-64T>C)
| gnomAD v4 |
| 1 | g.215867234_215867235delinsAT | CA1220455744 | USH2A | c.8682-65_8682-64delinsAT (n.8682-65_8682-64delinsAT)
| |
| 1 | g.215867237del | CA529002462 | USH2A | c.8682-65del (n.8682-65del)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215867235_215867238delinsTTTC | CA1220455745 | USH2A | c.8682-68_8682-65delinsGAAA (n.8682-68_8682-65delinsGAAA)
| |
| 1 | g.215867238_215867241del | CA2650504879 | USH2A | c.8682-68_8682-65del (n.8682-68_8682-65del)
| gnomAD v4 |
| 1 | g.215867238_215867240del | CA1220455746 | USH2A | c.8682-68_8682-66del (n.8682-68_8682-66del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867237T>C | CA2650504881 | USH2A | c.8682-67A>G (n.8682-67A>G)
| gnomAD v4 |
| 1 | g.215867238_215867239del | CA2650504880 | USH2A | c.8682-68_8682-67del (n.8682-68_8682-67del)
| gnomAD v4 |
| 1 | g.215867238C>A | CA2747724363 | USH2A | c.8682-68G>T (n.8682-68G>T)
| |
| 1 | g.215867238_215867241delinsCTTT | CA1220455747 | USH2A | c.8682-71_8682-68delinsAAAG (n.8682-71_8682-68delinsAAAG)
| |
| 1 | g.215867239T>G | CA2747724365 | USH2A | c.8682-69A>C (n.8682-69A>C)
| |
| 1 | g.215867245dup | CA37459620 | USH2A | c.8682-69dup (n.8682-69dup)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867245del | CA1012205732 | USH2A | c.8682-69del (n.8682-69del)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867244_215867245del | CA2650504882 | USH2A | c.8682-70_8682-69del (n.8682-70_8682-69del)
| gnomAD v4 |
| 1 | g.215867243_215867245del | CA529002463 | USH2A | c.8682-71_8682-69del (n.8682-71_8682-69del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867240_215867256del | CA2747724364 | USH2A | c.8682-85_8682-69del (n.8682-85_8682-69del)
| |
| 1 | g.215867240T>C | CA2650504883 | USH2A | c.8682-70A>G (n.8682-70A>G)
| gnomAD v4 |
| 1 | g.215867240T>G | CA2747724366 | USH2A | c.8682-70A>C (n.8682-70A>C)
| |
| 1 | g.215867241T>A | CA2747724367 | USH2A | c.8682-71A>T (n.8682-71A>T)
| |
| 1 | g.215867241_215867242insACA | CA2747724370 | USH2A | c.8682-72_8682-71insTGT (n.8682-72_8682-71insTGT)
| |
| 1 | g.215867242T>C | CA2650504884 | USH2A | c.8682-72A>G (n.8682-72A>G)
| gnomAD v4 |
| 1 | g.215867242T>G | CA2747724368 | USH2A | c.8682-72A>C (n.8682-72A>C)
| |
| 1 | g.215867242_215867254del | CA2747724369 | USH2A | c.8682-84_8682-72del (n.8682-84_8682-72del)
| |
| 1 | g.215867242_215867243insAC | CA2747724372 | USH2A | c.8682-73_8682-72insGT (n.8682-73_8682-72insGT)
| |
| 1 | g.215867242_215867243insACG | CA2747724371 | USH2A | c.8682-73_8682-72insCGT (n.8682-73_8682-72insCGT)
| |
| 1 | g.215867243T>G | CA2650504885 | USH2A | c.8682-73A>C (n.8682-73A>C)
| gnomAD v4 |
| 1 | g.215867243_215867244insACAG | CA2747724375 | USH2A | c.8682-74_8682-73insCTGT (n.8682-74_8682-73insCTGT)
| |
| 1 | g.215867244T>A | CA2747724374 | USH2A | c.8682-74A>T (n.8682-74A>T)
| |
| 1 | g.215867244_215867249del | CA2747724373 | USH2A | c.8682-79_8682-74del (n.8682-79_8682-74del)
| |
| 1 | g.215867245T>A | CA2747724376 | USH2A | c.8682-75A>T (n.8682-75A>T)
| |
| 1 | g.215867245T>G | CA529002464 | USH2A | c.8682-75A>C (n.8682-75A>C)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867245T= | CA1220455749 | USH2A | c.8682-75A= (n.8682-75A=)
| |
| 1 | g.215867245_215867246delinsTC | CA1220455748 | USH2A | c.8682-76_8682-75delinsGA (n.8682-76_8682-75delinsGA)
| |
| 1 | g.215867245_215867246insA | CA2747724377 | USH2A | c.8682-76_8682-75insT (n.8682-76_8682-75insT)
| |
| 1 | g.215867246del | CA1220455750 | USH2A | c.8682-76del (n.8682-76del)
| dbSNP gnomAD v4 |
| 1 | g.215867246C>A | CA2574133193 | USH2A | c.8682-76G>T (n.8682-76G>T)
| |
| 1 | g.215867246C= | CA1220455751 | USH2A | c.8682-76G= (n.8682-76G=)
| |
| 1 | g.215867246C>T | CA731386380 | USH2A | c.8682-76G>A (n.8682-76G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867246_215867247insA | CA2747724378 | USH2A | c.8682-77_8682-76insT (n.8682-77_8682-76insT)
| |
| 1 | g.215867247T>A | CA2581729683 | USH2A | c.8682-77A>T (n.8682-77A>T)
| |
| 1 | g.215867247T>C | CA2581729682 | USH2A | c.8682-77A>G (n.8682-77A>G)
| |
| 1 | g.215867247T>G | CA37459624 | USH2A | c.8682-77A>C (n.8682-77A>C)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215867247T= | CA1140610951 | USH2A | c.8682-77A= (n.8682-77A=)
| |
| 1 | g.215867247_215867248insAG | CA2747724379 | USH2A | c.8682-78_8682-77insCT (n.8682-78_8682-77insCT)
| |
| 1 | g.215867247_215867248insAGA | CA2747724380 | USH2A | c.8682-78_8682-77insTCT (n.8682-78_8682-77insTCT)
| |
| 1 | g.215867248T>C | CA2650504886 | USH2A | c.8682-78A>G (n.8682-78A>G)
| gnomAD v4 |
| 1 | g.215867248_215867249del | CA2747724381 | USH2A | c.8682-79_8682-78del (n.8682-79_8682-78del)
| |
| 1 | g.215867248_215867258del | CA2747724382 | USH2A | c.8682-88_8682-78del (n.8682-88_8682-78del)
| |
| 1 | g.215867249del | CA2747724386 | USH2A | c.8682-79del (n.8682-79del)
| |
| 1 | g.215867249C>G | CA2747724384 | USH2A | c.8682-79G>C (n.8682-79G>C)
| |
| 1 | g.215867249C>T | CA2650504887 | USH2A | c.8682-79G>A (n.8682-79G>A)
| gnomAD v4 |
| 1 | g.215867251_215867252del | CA2747724383 | USH2A | c.8682-80_8682-79del (n.8682-80_8682-79del)
| |
| 1 | g.215867249_215867258del | CA2747724385 | USH2A | c.8682-88_8682-79del (n.8682-88_8682-79del)
| |
| 1 | g.215867250A= | CA1220455752 | USH2A | c.8682-80T= (n.8682-80T=)
| |
| 1 | g.215867250A>G | CA2574133194 | USH2A | c.8682-80T>C (n.8682-80T>C)
| gnomAD v4 |
| 1 | g.215867250A>T | CA37459632 | USH2A | c.8682-80T>A (n.8682-80T>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215867250_215867251insGT | CA2747724387 | USH2A | c.8682-81_8682-80insAC (n.8682-81_8682-80insAC)
| |
| 1 | g.215867251C>G | CA2747724389 | USH2A | c.8682-81G>C (n.8682-81G>C)
| |
| 1 | g.215867251_215867256del | CA2747724388 | USH2A | c.8682-86_8682-81del (n.8682-86_8682-81del)
| |
| 1 | g.215867252A= | CA1220455753 | USH2A | c.8682-82T= (n.8682-82T=)
| |
| 1 | g.215867252A>C | CA2747724391 | USH2A | c.8682-82T>G (n.8682-82T>G)
| |
| 1 | g.215867252A>G | CA1220455754 | USH2A | c.8682-82T>C (n.8682-82T>C)
| dbSNP gnomAD v4 |
| 1 | g.215867252A>T | CA2747724392 | USH2A | c.8682-82T>A (n.8682-82T>A)
| |
| 1 | g.215867253_215867257del | CA2747724390 | USH2A | c.8682-86_8682-82del (n.8682-86_8682-82del)
| |
