| 1 | g.215782752G>A | CA344837307 | USH2A | c.10571C>T (p.Pro3524Leu)
| |
| 1 | g.215782752G>C | CA344837309 | USH2A | c.10571C>G (p.Pro3524Arg)
| |
| 1 | g.215782752G= | CA1220417352 | USH2A | c.10571C= (p.Pro3524=)
| |
| 1 | g.215782752G>T | CA16617055 | USH2A | c.10571C>A (p.Pro3524His)
| ClinVar dbSNP |
| 1 | g.215782753G>A | CA344837312 | USH2A | c.10570C>T (p.Pro3524Ser)
| |
| 1 | g.215782753G>C | CA344837316 | USH2A | c.10570C>G (p.Pro3524Ala)
| gnomAD v4 |
| 1 | g.215782753G>T | CA344837318 | USH2A | c.10570C>A (p.Pro3524Thr)
| |
| 1 | g.215782754T>A | CA344837323 | USH2A | c.10569A>T (p.Lys3523Asn)
| |
| 1 | g.215782754T>C | CA423313409 | USH2A | c.10569A>G (p.Lys3523=)
| |
| 1 | g.215782754T>G | CA344837321 | USH2A | c.10569A>C (p.Lys3523Asn)
| |
| 1 | g.215782757dup | CA2739275687 | USH2A | c.10569dup (p.Pro3524ThrfsTer19)
| ClinVar |
| 1 | g.215782755T>A | CA344837326 | USH2A | c.10568A>T (p.Lys3523Ile)
| |
| 1 | g.215782755T>C | CA344837329 | USH2A | c.10568A>G (p.Lys3523Arg)
| |
| 1 | g.215782755T>G | CA344837332 | USH2A | c.10568A>C (p.Lys3523Thr)
| |
| 1 | g.215782756T>A | CA344837335 | USH2A | c.10567A>T (p.Lys3523Ter)
| |
| 1 | g.215782756T>C | CA344837338 | USH2A | c.10567A>G (p.Lys3523Glu)
| |
| 1 | g.215782756T>G | CA344837340 | USH2A | c.10567A>C (p.Lys3523Gln)
| |
| 1 | g.215782757T>A | CA344837343 | USH2A | c.10566A>T (p.Arg3522Ser)
| |
| 1 | g.215782757T>C | CA423313412 | USH2A | c.10566A>G (p.Arg3522=)
| |
| 1 | g.215782757T>G | CA344837345 | USH2A | c.10566A>C (p.Arg3522Ser)
| |
| 1 | g.215782758C>A | CA344837348 | USH2A | c.10565G>T (p.Arg3522Ile)
| |
| 1 | g.215782758C>G | CA344837350 | USH2A | c.10565G>C (p.Arg3522Thr)
| gnomAD v4 |
| 1 | g.215782758C>T | CA344837353 | USH2A | c.10565G>A (p.Arg3522Lys)
| gnomAD v4 |
| 1 | g.215782759T>A | CA344837356 | USH2A | c.10564A>T (p.Arg3522Ter)
| |
| 1 | g.215782759T>C | CA1393991 | USH2A | c.10564A>G (p.Arg3522Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782759T>G | CA423313413 | USH2A | c.10564A>C (p.Arg3522=)
| |
| 1 | g.215782759T= | CA1142175080 | USH2A | c.10564A= (p.Arg3522=)
| |
| 1 | g.215782760C>A | CA344837363 | USH2A | c.10563G>T (p.Trp3521Cys)
| |
| 1 | g.215782760C>G | CA344837359 | USH2A | c.10563G>C (p.Trp3521Cys)
| |
| 1 | g.215782760C>T | CA344837360 | USH2A | c.10563G>A (p.Trp3521Ter)
| |
| 1 | g.215782761C>A | CA344837365 | USH2A | c.10562G>T (p.Trp3521Leu)
| |
| 1 | g.215782761C>G | CA344837367 | USH2A | c.10562G>C (p.Trp3521Ser)
| |
| 1 | g.215782761C>T | CA344837369 | USH2A | c.10562G>A (p.Trp3521Ter)
| |
| 1 | g.215782762A= | CA1141189278 | USH2A | c.10561T= (p.Trp3521=)
| |
| 1 | g.215782762A>C | CA344837372 | USH2A | c.10561T>G (p.Trp3521Gly)
| |
| 1 | g.215782762A>G | CA262058 | USH2A | c.10561T>C (p.Trp3521Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782762A>T | CA344837377 | USH2A | c.10561T>A (p.Trp3521Arg)
| ClinVar dbSNP |
| 1 | g.215782763G>A | CA37437802 | USH2A | c.10560C>T (p.Asn3520=)
| dbSNP |
| 1 | g.215782763G>C | CA344837379 | USH2A | c.10560C>G (p.Asn3520Lys)
| |
| 1 | g.215782763G= | CA1220417369 | USH2A | c.10560C= (p.Asn3520=)
| |
| 1 | g.215782763G>T | CA344837382 | USH2A | c.10560C>A (p.Asn3520Lys)
| |
| 1 | g.215782764T>A | CA344837385 | USH2A | c.10559A>T (p.Asn3520Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782764T>C | CA1393992 | USH2A | c.10559A>G (p.Asn3520Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782764T>G | CA344837388 | USH2A | c.10559A>C (p.Asn3520Thr)
| |
| 1 | g.215782764T= | CA1220417375 | USH2A | c.10559A= (p.Asn3520=)
| |
| 1 | g.215782765T>A | CA344837403 | USH2A | c.10558A>T (p.Asn3520Tyr)
| |
| 1 | g.215782765T>C | CA344837394 | USH2A | c.10558A>G (p.Asn3520Asp)
| |
| 1 | g.215782765T>G | CA344837392 | USH2A | c.10558A>C (p.Asn3520His)
| |
| 1 | g.215782766T>A | CA344837406 | USH2A | c.10557A>T (p.Leu3519Phe)
| |
| 1 | g.215782766T>C | CA423313418 | USH2A | c.10557A>G (p.Leu3519=)
| |
| 1 | g.215782766T>G | CA344837413 | USH2A | c.10557A>C (p.Leu3519Phe)
| |
| 1 | g.215782767A>C | CA344837417 | USH2A | c.10556T>G (p.Leu3519Ter)
| |
| 1 | g.215782767A>G | CA344837418 | USH2A | c.10556T>C (p.Leu3519Ser)
| |
| 1 | g.215782767A>T | CA344837420 | USH2A | c.10556T>A (p.Leu3519Ter)
| |
| 1 | g.215782768A>C | CA344837422 | USH2A | c.10555T>G (p.Leu3519Val)
| |
| 1 | g.215782768A>G | CA423313419 | USH2A | c.10555T>C (p.Leu3519=)
| COSMIC COSMIC |
| 1 | g.215782768A>T | CA344837424 | USH2A | c.10555T>A (p.Leu3519Ile)
| |
| 1 | g.215782769G>A | CA423313420 | USH2A | c.10554C>T (p.Val3518=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782769G>C | CA423313421 | USH2A | c.10554C>G (p.Val3518=)
| |
| 1 | g.215782769G= | CA1220417379 | USH2A | c.10554C= (p.Val3518=)
| |
| 1 | g.215782769G>T | CA423313422 | USH2A | c.10554C>A (p.Val3518=)
| |
| 1 | g.215782770A= | CA1220417382 | USH2A | c.10553T= (p.Val3518=)
| |
| 1 | g.215782770A>C | CA344837427 | USH2A | c.10553T>G (p.Val3518Gly)
| |
| 1 | g.215782770A>G | CA344837428 | USH2A | c.10553T>C (p.Val3518Ala)
| |
| 1 | g.215782770A>T | CA344837430 | USH2A | c.10553T>A (p.Val3518Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782771C>A | CA344837434 | USH2A | c.10552G>T (p.Val3518Phe)
| |
| 1 | g.215782771C= | CA1140941763 | USH2A | c.10552G= (p.Val3518=)
| |
| 1 | g.215782771C>G | CA344837437 | USH2A | c.10552G>C (p.Val3518Leu)
| |
| 1 | g.215782771C>T | CA143225 | USH2A | c.10552G>A (p.Val3518Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782772A>C | CA344837441 | USH2A | c.10551T>G (p.Ile3517Met)
| |
| 1 | g.215782772A>G | CA423313425 | USH2A | c.10551T>C (p.Ile3517=)
| |
| 1 | g.215782772A>T | CA423313424 | USH2A | c.10551T>A (p.Ile3517=)
| |
| 1 | g.215782773A>C | CA344837449 | USH2A | c.10550T>G (p.Ile3517Ser)
| |
| 1 | g.215782773A>G | CA344837444 | USH2A | c.10550T>C (p.Ile3517Thr)
| |
| 1 | g.215782773A>T | CA344837447 | USH2A | c.10550T>A (p.Ile3517Asn)
| |
| 1 | g.215782774T>A | CA344837452 | USH2A | c.10549A>T (p.Ile3517Phe)
| gnomAD v4 |
| 1 | g.215782774T>C | CA344837454 | USH2A | c.10549A>G (p.Ile3517Val)
| gnomAD v4 |
| 1 | g.215782774T>G | CA344837456 | USH2A | c.10549A>C (p.Ile3517Leu)
| |
| 1 | g.215782775T>A | CA423313427 | USH2A | c.10548A>T (p.Thr3516=)
| |
| 1 | g.215782775T>C | CA423313428 | USH2A | c.10548A>G (p.Thr3516=)
| |
| 1 | g.215782775T>G | CA423313429 | USH2A | c.10548A>C (p.Thr3516=)
| |
| 1 | g.215782776G>A | CA344837459 | USH2A | c.10547C>T (p.Thr3516Ile)
| |
| 1 | g.215782776G>C | CA344837462 | USH2A | c.10547C>G (p.Thr3516Arg)
| |
| 1 | g.215782776G= | CA1220417399 | USH2A | c.10547C= (p.Thr3516=)
| |
| 1 | g.215782776G>T | CA344837464 | USH2A | c.10547C>A (p.Thr3516Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782777T>A | CA344837467 | USH2A | c.10546A>T (p.Thr3516Ser)
| |
| 1 | g.215782777T>C | CA344837469 | USH2A | c.10546A>G (p.Thr3516Ala)
| COSMIC COSMIC |
| 1 | g.215782777T>G | CA344837470 | USH2A | c.10546A>C (p.Thr3516Pro)
| |
| 1 | g.215782778A= | CA1220417401 | USH2A | c.10545T= (p.Asp3515=)
| |
| 1 | g.215782778A>C | CA344837473 | USH2A | c.10545T>G (p.Asp3515Glu)
| |
| 1 | g.215782778A>G | CA423313431 | USH2A | c.10545T>C (p.Asp3515=)
| ClinVar dbSNP |
| 1 | g.215782778A>T | CA344837475 | USH2A | c.10545T>A (p.Asp3515Glu)
| |
| 1 | g.215782779T>A | CA344837483 | USH2A | c.10544A>T (p.Asp3515Val)
| |
| 1 | g.215782779T>C | CA270133 | USH2A | c.10544A>G (p.Asp3515Gly)
| ClinVar dbSNP |
| 1 | g.215782779T>G | CA37437810 | USH2A | c.10544A>C (p.Asp3515Ala)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782779T= | CA1144233407 | USH2A | c.10544A= (p.Asp3515=)
| |
| 1 | g.215782780C>A | CA344837487 | USH2A | c.10543G>T (p.Asp3515Tyr)
| dbSNP |
| 1 | g.215782780C= | CA1220417410 | USH2A | c.10543G= (p.Asp3515=)
| |
| 1 | g.215782780C>G | CA344837489 | USH2A | c.10543G>C (p.Asp3515His)
| |
| 1 | g.215782780C>T | CA344837492 | USH2A | c.10543G>A (p.Asp3515Asn)
| |
| 1 | g.215782781T>A | CA344837494 | USH2A | c.10542A>T (p.Glu3514Asp)
| |
| 1 | g.215782781T>C | CA423313433 | USH2A | c.10542A>G (p.Glu3514=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782781T>G | CA344837497 | USH2A | c.10542A>C (p.Glu3514Asp)
| |
| 1 | g.215782781T= | CA1220417412 | USH2A | c.10542A= (p.Glu3514=)
| |
| 1 | g.215782782T>A | CA344837498 | USH2A | c.10541A>T (p.Glu3514Val)
| |
| 1 | g.215782782T>C | CA344837499 | USH2A | c.10541A>G (p.Glu3514Gly)
| gnomAD v4 |
| 1 | g.215782782T>G | CA344837501 | USH2A | c.10541A>C (p.Glu3514Ala)
| |
| 1 | g.215782783C>A | CA344837503 | USH2A | c.10540G>T (p.Glu3514Ter)
| |
| 1 | g.215782783C= | CA1220417416 | USH2A | c.10540G= (p.Glu3514=)
| |
| 1 | g.215782783C>G | CA1393993 | USH2A | c.10540G>C (p.Glu3514Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215782783C>T | CA344837507 | USH2A | c.10540G>A (p.Glu3514Lys)
| gnomAD v4 |
| 1 | g.215782784A= | CA1220417418 | USH2A | c.10539T= (p.Leu3513=)
| |
| 1 | g.215782784A>C | CA1393994 | USH2A | c.10539T>G (p.Leu3513=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782784A>G | CA423313434 | USH2A | c.10539T>C (p.Leu3513=)
| |
| 1 | g.215782784A>T | CA423313435 | USH2A | c.10539T>A (p.Leu3513=)
| |
| 1 | g.215782785A>C | CA344837515 | USH2A | c.10538T>G (p.Leu3513Arg)
| |
| 1 | g.215782785A>G | CA344837513 | USH2A | c.10538T>C (p.Leu3513Pro)
| |
| 1 | g.215782785A>T | CA344837511 | USH2A | c.10538T>A (p.Leu3513His)
| COSMIC COSMIC |
| 1 | g.215782786G>A | CA344837519 | USH2A | c.10537C>T (p.Leu3513Phe)
| |
| 1 | g.215782786G>C | CA344837524 | USH2A | c.10537C>G (p.Leu3513Val)
| |
| 1 | g.215782786G>T | CA344837527 | USH2A | c.10537C>A (p.Leu3513Ile)
| COSMIC COSMIC |
| 1 | g.215782787A>C | CA344837529 | USH2A | c.10536T>G (p.Asn3512Lys)
| |
| 1 | g.215782787A>G | CA423313436 | USH2A | c.10536T>C (p.Asn3512=)
| |
| 1 | g.215782787A>T | CA344837533 | USH2A | c.10536T>A (p.Asn3512Lys)
| |
| 1 | g.215782788T>A | CA344837536 | USH2A | c.10535A>T (p.Asn3512Ile)
| |
| 1 | g.215782788T>C | CA344837538 | USH2A | c.10535A>G (p.Asn3512Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782788T>G | CA344837540 | USH2A | c.10535A>C (p.Asn3512Thr)
| |
| 1 | g.215782788T= | CA1220417420 | USH2A | c.10535A= (p.Asn3512=)
| |
| 1 | g.215782788_215782821dup | CA2573131603 | USH2A | c.10502_10535dup (p.Asn3512LysfsTer14)
| ClinVar dbSNP |
| 1 | g.215782789T>A | CA344837543 | USH2A | c.10534A>T (p.Asn3512Tyr)
| |
| 1 | g.215782789T>C | CA344837545 | USH2A | c.10534A>G (p.Asn3512Asp)
| |
| 1 | g.215782789T>G | CA1393995 | USH2A | c.10534A>C (p.Asn3512His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782789T= | CA1220417426 | USH2A | c.10534A= (p.Asn3512=)
| |
| 1 | g.215782790G>A | CA423313440 | USH2A | c.10533C>T (p.Asp3511=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782790G>C | CA344837548 | USH2A | c.10533C>G (p.Asp3511Glu)
| |
| 1 | g.215782790G= | CA1220417432 | USH2A | c.10533C= (p.Asp3511=)
| |
| 1 | g.215782790G>T | CA344837550 | USH2A | c.10533C>A (p.Asp3511Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782791T>A | CA344837558 | USH2A | c.10532A>T (p.Asp3511Val)
| |
| 1 | g.215782791T>C | CA1393996 | USH2A | c.10532A>G (p.Asp3511Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782791T>G | CA344837554 | USH2A | c.10532A>C (p.Asp3511Ala)
| |
| 1 | g.215782791T= | CA1143519571 | USH2A | c.10532A= (p.Asp3511=)
| |
| 1 | g.215782792C>A | CA344837564 | USH2A | c.10531G>T (p.Asp3511Tyr)
| |
| 1 | g.215782792C>G | CA344837561 | USH2A | c.10531G>C (p.Asp3511His)
| |
| 1 | g.215782792C>T | CA344837566 | USH2A | c.10531G>A (p.Asp3511Asn)
| |
| 1 | g.215782793T>A | CA423313441 | USH2A | c.10530A>T (p.Ile3510=)
| |
| 1 | g.215782793T>C | CA344837569 | USH2A | c.10530A>G (p.Ile3510Met)
| |
| 1 | g.215782793T>G | CA423313442 | USH2A | c.10530A>C (p.Ile3510=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782793T= | CA1220417439 | USH2A | c.10530A= (p.Ile3510=)
| |
| 1 | g.215782794A= | CA1142459099 | USH2A | c.10529T= (p.Ile3510=)
| |
| 1 | g.215782794A>C | CA344837573 | USH2A | c.10529T>G (p.Ile3510Arg)
| |
| 1 | g.215782794A>G | CA37437825 | USH2A | c.10529T>C (p.Ile3510Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782794A>T | CA344837571 | USH2A | c.10529T>A (p.Ile3510Lys)
| |
| 1 | g.215782795T>A | CA344837576 | USH2A | c.10528A>T (p.Ile3510Leu)
| |
| 1 | g.215782795T>C | CA344837578 | USH2A | c.10528A>G (p.Ile3510Val)
| |
| 1 | g.215782795T>G | CA344837580 | USH2A | c.10528A>C (p.Ile3510Leu)
| |
| 1 | g.215782796T>A | CA344837584 | USH2A | c.10527A>T (p.Lys3509Asn)
| |
| 1 | g.215782796T>C | CA423313444 | USH2A | c.10527A>G (p.Lys3509=)
| |
| 1 | g.215782796T>G | CA344837586 | USH2A | c.10527A>C (p.Lys3509Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782796T= | CA1220417442 | USH2A | c.10527A= (p.Lys3509=)
| |
| 1 | g.215782797T>A | CA344837588 | USH2A | c.10526A>T (p.Lys3509Ile)
| |
| 1 | g.215782797T>C | CA344837591 | USH2A | c.10526A>G (p.Lys3509Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782797T>G | CA344837594 | USH2A | c.10526A>C (p.Lys3509Thr)
| |
| 1 | g.215782798T>A | CA37437831 | USH2A | c.10525A>T (p.Lys3509Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782798T>C | CA344837598 | USH2A | c.10525A>G (p.Lys3509Glu)
| |
| 1 | g.215782798T>G | CA344837600 | USH2A | c.10525A>C (p.Lys3509Gln)
| |
| 1 | g.215782798T= | CA1220417447 | USH2A | c.10525A= (p.Lys3509=)
| |
| 1 | g.215782799G>A | CA423313446 | USH2A | c.10524C>T (p.Thr3508=)
| |
| 1 | g.215782799G>C | CA423313447 | USH2A | c.10524C>G (p.Thr3508=)
| |
| 1 | g.215782799G= | CA1144229152 | USH2A | c.10524C= (p.Thr3508=)
| |
| 1 | g.215782799G>T | CA143223 | USH2A | c.10524C>A (p.Thr3508=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782800G>A | CA344837605 | USH2A | c.10523C>T (p.Thr3508Ile)
| ClinVar |
| 1 | g.215782800G>C | CA344837607 | USH2A | c.10523C>G (p.Thr3508Ser)
| |
| 1 | g.215782800G= | CA1220417458 | USH2A | c.10523C= (p.Thr3508=)
| |
| 1 | g.215782800G>T | CA344837609 | USH2A | c.10523C>A (p.Thr3508Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782801T>A | CA344837612 | USH2A | c.10522A>T (p.Thr3508Ser)
| |
| 1 | g.215782801T>C | CA344837614 | USH2A | c.10522A>G (p.Thr3508Ala)
| gnomAD v4 |
| 1 | g.215782801T>G | CA344837617 | USH2A | c.10522A>C (p.Thr3508Pro)
| |
| 1 | g.215782802C>A | CA344837620 | USH2A | c.10521G>T (p.Trp3507Cys)
| |
| 1 | g.215782802C= | CA1220417461 | USH2A | c.10521G= (p.Trp3507=)
| |
| 1 | g.215782802C>G | CA344837622 | USH2A | c.10521G>C (p.Trp3507Cys)
| gnomAD v4 |
| 1 | g.215782802C>T | CA344837623 | USH2A | c.10521G>A (p.Trp3507Ter)
| dbSNP gnomAD v4 |
| 1 | g.215782803C>A | CA344837627 | USH2A | c.10520G>T (p.Trp3507Leu)
| |
| 1 | g.215782803C>G | CA344837628 | USH2A | c.10520G>C (p.Trp3507Ser)
| |
| 1 | g.215782803C>T | CA344837630 | USH2A | c.10520G>A (p.Trp3507Ter)
| |
| 1 | g.215782804A>C | CA344837641 | USH2A | c.10519T>G (p.Trp3507Gly)
| |
| 1 | g.215782804A>G | CA344837639 | USH2A | c.10519T>C (p.Trp3507Arg)
| |
| 1 | g.215782804A>T | CA344837633 | USH2A | c.10519T>A (p.Trp3507Arg)
| |
| 1 | g.215782805C>A | CA423313448 | USH2A | c.10518G>T (p.Thr3506=)
| |
| 1 | g.215782805C= | CA1141420249 | USH2A | c.10518G= (p.Thr3506=)
| |
| 1 | g.215782805C>G | CA423313449 | USH2A | c.10518G>C (p.Thr3506=)
| |
| 1 | g.215782805C>T | CA1393997 | USH2A | c.10518G>A (p.Thr3506=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782806G>A | CA143221 | USH2A | c.10517C>T (p.Thr3506Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782806G>C | CA344837646 | USH2A | c.10517C>G (p.Thr3506Arg)
| gnomAD v4 |
| 1 | g.215782806G= | CA1144229153 | USH2A | c.10517C= (p.Thr3506=)
| |
| 1 | g.215782806G>T | CA344837649 | USH2A | c.10517C>A (p.Thr3506Lys)
| dbSNP COSMIC COSMIC |
| 1 | g.215782807T>A | CA344837650 | USH2A | c.10516A>T (p.Thr3506Ser)
| |
| 1 | g.215782807T>C | CA344837651 | USH2A | c.10516A>G (p.Thr3506Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782807T>G | CA344837653 | USH2A | c.10516A>C (p.Thr3506Pro)
| ClinVar dbSNP |
| 1 | g.215782807T= | CA1220417475 | USH2A | c.10516A= (p.Thr3506=)
| |
| 1 | g.215782808A= | CA1220417479 | USH2A | c.10515T= (p.Pro3505=)
| |
| 1 | g.215782808A>C | CA423313450 | USH2A | c.10515T>G (p.Pro3505=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782808A>G | CA423313451 | USH2A | c.10515T>C (p.Pro3505=)
| ClinVar |
| 1 | g.215782808A>T | CA423313452 | USH2A | c.10515T>A (p.Pro3505=)
| |
| 1 | g.215782809G>A | CA1393998 | USH2A | c.10514C>T (p.Pro3505Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782809G>C | CA344837659 | USH2A | c.10514C>G (p.Pro3505Arg)
| |
| 1 | g.215782809G= | CA1142857818 | USH2A | c.10514C= (p.Pro3505=)
| |
| 1 | g.215782809G>T | CA344837660 | USH2A | c.10514C>A (p.Pro3505His)
| |
| 1 | g.215782812_215782813del | CA2740090502 | USH2A | c.10513_10514del (p.Pro3505TyrfsTer9)
| ClinVar |
| 1 | g.215782810G>A | CA344837663 | USH2A | c.10513C>T (p.Pro3505Ser)
| gnomAD v4 |
| 1 | g.215782810G>C | CA344837665 | USH2A | c.10513C>G (p.Pro3505Ala)
| |
| 1 | g.215782810G>T | CA344837667 | USH2A | c.10513C>A (p.Pro3505Thr)
| |
| 1 | g.215782811G>A | CA423313453 | USH2A | c.10512C>T (p.Pro3504=)
| ClinVar dbSNP |
| 1 | g.215782811G>C | CA423313454 | USH2A | c.10512C>G (p.Pro3504=)
| |
| 1 | g.215782811G>T | CA423313455 | USH2A | c.10512C>A (p.Pro3504=)
| |
| 1 | g.215782812G>A | CA1393999 | USH2A | c.10511C>T (p.Pro3504Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.215782812G>C | CA344837673 | USH2A | c.10511C>G (p.Pro3504Arg)
| |
| 1 | g.215782812G= | CA1148251729 | USH2A | c.10511C= (p.Pro3504=)
| |
| 1 | g.215782812G>T | CA344837672 | USH2A | c.10511C>A (p.Pro3504His)
| gnomAD v4 |
| 1 | g.215782813G>A | CA344837676 | USH2A | c.10510C>T (p.Pro3504Ser)
| dbSNP |
| 1 | g.215782813G>C | CA182594 | USH2A | c.10510C>G (p.Pro3504Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782813G= | CA1143413522 | USH2A | c.10510C= (p.Pro3504=)
| |
| 1 | g.215782813G>T | CA344837680 | USH2A | c.10510C>A (p.Pro3504Thr)
| dbSNP gnomAD v4 |
| 1 | g.215782814A= | CA1141684349 | USH2A | c.10509T= (p.Ser3503=)
| |
| 1 | g.215782814A>C | CA344837683 | USH2A | c.10509T>G (p.Ser3503Arg)
| |
| 1 | g.215782814A>G | CA423313456 | USH2A | c.10509T>C (p.Ser3503=)
| ClinVar dbSNP |
| 1 | g.215782814A>T | CA37437904 | USH2A | c.10509T>A (p.Ser3503Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782815C>A | CA344837687 | USH2A | c.10508G>T (p.Ser3503Ile)
| gnomAD v4 |
| 1 | g.215782815C= | CA1220417497 | USH2A | c.10508G= (p.Ser3503=)
| |
| 1 | g.215782815C>G | CA344837689 | USH2A | c.10508G>C (p.Ser3503Thr)
| |
| 1 | g.215782815C>T | CA37437923 | USH2A | c.10508G>A (p.Ser3503Asn)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 1 | g.215782816T>A | CA344837692 | USH2A | c.10507A>T (p.Ser3503Cys)
| |
| 1 | g.215782816T>C | CA344837694 | USH2A | c.10507A>G (p.Ser3503Gly)
| |
| 1 | g.215782816T>G | CA344837697 | USH2A | c.10507A>C (p.Ser3503Arg)
| |
| 1 | g.215782817C>A | CA423313457 | USH2A | c.10506G>T (p.Val3502=)
| |
| 1 | g.215782817C>G | CA423313458 | USH2A | c.10506G>C (p.Val3502=)
| |
| 1 | g.215782817C>T | CA423313459 | USH2A | c.10506G>A (p.Val3502=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782818A>C | CA344837703 | USH2A | c.10505T>G (p.Val3502Gly)
| |
| 1 | g.215782818A>G | CA344837705 | USH2A | c.10505T>C (p.Val3502Ala)
| |
| 1 | g.215782818A>T | CA344837701 | USH2A | c.10505T>A (p.Val3502Glu)
| |
| 1 | g.215782819C>A | CA344837711 | USH2A | c.10504G>T (p.Val3502Leu)
| |
| 1 | g.215782819C= | CA1220417501 | USH2A | c.10504G= (p.Val3502=)
| |
| 1 | g.215782819C>G | CA1394000 | USH2A | c.10504G>C (p.Val3502Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215782819C>T | CA344837709 | USH2A | c.10504G>A (p.Val3502Met)
| |
| 1 | g.215782820T>A | CA423313462 | USH2A | c.10503A>T (p.Gly3501=)
| |
| 1 | g.215782820T>C | CA423313461 | USH2A | c.10503A>G (p.Gly3501=)
| |
| 1 | g.215782820T>G | CA423313460 | USH2A | c.10503A>C (p.Gly3501=)
| |
| 1 | g.215782821C>A | CA344837714 | USH2A | c.10502G>T (p.Gly3501Val)
| |
| 1 | g.215782821C>G | CA344837716 | USH2A | c.10502G>C (p.Gly3501Ala)
| |
| 1 | g.215782821C>T | CA344837717 | USH2A | c.10502G>A (p.Gly3501Glu)
| |
| 1 | g.215782822C>A | CA344837719 | USH2A | c.10501G>T (p.Gly3501Ter)
| |
| 1 | g.215782822C>G | CA344837720 | USH2A | c.10501G>C (p.Gly3501Arg)
| |
| 1 | g.215782822C>T | CA344837723 | USH2A | c.10501G>A (p.Gly3501Arg)
| |
| 1 | g.215782823T>A | CA344837725 | USH2A | c.10500A>T (p.Gln3500His)
| |
| 1 | g.215782823T>C | CA423313463 | USH2A | c.10500A>G (p.Gln3500=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782823T>G | CA344837727 | USH2A | c.10500A>C (p.Gln3500His)
| |
| 1 | g.215782824T>A | CA344837730 | USH2A | c.10499A>T (p.Gln3500Leu)
| |
| 1 | g.215782824T>C | CA344837731 | USH2A | c.10499A>G (p.Gln3500Arg)
| |
| 1 | g.215782824T>G | CA344837732 | USH2A | c.10499A>C (p.Gln3500Pro)
| |
| 1 | g.215782825G>A | CA37437933 | USH2A | c.10498C>T (p.Gln3500Ter)
| ClinVar dbSNP |
| 1 | g.215782825G>C | CA344837733 | USH2A | c.10498C>G (p.Gln3500Glu)
| |
| 1 | g.215782825G= | CA1145963894 | USH2A | c.10498C= (p.Gln3500=)
| |
| 1 | g.215782825G>T | CA344837734 | USH2A | c.10498C>A (p.Gln3500Lys)
| |
| 1 | g.215782826A= | CA1149071124 | USH2A | c.10497T= (p.Pro3499=)
| |
| 1 | g.215782826A>C | CA423313465 | USH2A | c.10497T>G (p.Pro3499=)
| |
| 1 | g.215782826A>G | CA1394001 | USH2A | c.10497T>C (p.Pro3499=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782826A>T | CA423313466 | USH2A | c.10497T>A (p.Pro3499=)
| |
| 1 | g.215782827G>A | CA344837735 | USH2A | c.10496C>T (p.Pro3499Leu)
| |
| 1 | g.215782827G>C | CA344837736 | USH2A | c.10496C>G (p.Pro3499Arg)
| |
| 1 | g.215782827G>T | CA344837737 | USH2A | c.10496C>A (p.Pro3499His)
| |
| 1 | g.215782828G>A | CA344837738 | USH2A | c.10495C>T (p.Pro3499Ser)
| |
| 1 | g.215782828G>C | CA344837739 | USH2A | c.10495C>G (p.Pro3499Ala)
| |
| 1 | g.215782828G= | CA1220417513 | USH2A | c.10495C= (p.Pro3499=)
| |
| 1 | g.215782828G>T | CA344837740 | USH2A | c.10495C>A (p.Pro3499Thr)
| ClinVar dbSNP |
| 1 | g.215782829C>A | CA423313467 | USH2A | c.10494G>T (p.Val3498=)
| ClinVar |
| 1 | g.215782829C>G | CA423313468 | USH2A | c.10494G>C (p.Val3498=)
| |
| 1 | g.215782829C>T | CA423313469 | USH2A | c.10494G>A (p.Val3498=)
| gnomAD v4 |
| 1 | g.215782830A>C | CA344837741 | USH2A | c.10493T>G (p.Val3498Gly)
| |
| 1 | g.215782830A>G | CA344837742 | USH2A | c.10493T>C (p.Val3498Ala)
| |
| 1 | g.215782830A>T | CA344837743 | USH2A | c.10493T>A (p.Val3498Glu)
| |
| 1 | g.215782831C>A | CA344837744 | USH2A | c.10492G>T (p.Val3498Leu)
| |
| 1 | g.215782831C= | CA1220417518 | USH2A | c.10492G= (p.Val3498=)
| |
| 1 | g.215782831C>G | CA344837745 | USH2A | c.10492G>C (p.Val3498Leu)
| |
| 1 | g.215782831C>T | CA344837746 | USH2A | c.10492G>A (p.Val3498Met)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782832A= | CA1220417521 | USH2A | c.10491T= (p.Asp3497=)
| |
| 1 | g.215782832A>C | CA344837747 | USH2A | c.10491T>G (p.Asp3497Glu)
| |
| 1 | g.215782832A>G | CA423313470 | USH2A | c.10491T>C (p.Asp3497=)
| gnomAD v4 |
| 1 | g.215782832A>T | CA344837748 | USH2A | c.10491T>A (p.Asp3497Glu)
| dbSNP gnomAD v4 |
| 1 | g.215782832_215782835delinsATCT | CA1220417524 | USH2A | c.10488_10491delinsAGAT (p.Glu3496=)
| |
| 1 | g.215782833T>A | CA344837749 | USH2A | c.10490A>T (p.Asp3497Val)
| dbSNP gnomAD v4 |
| 1 | g.215782833T>C | CA1394002 | USH2A | c.10490A>G (p.Asp3497Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782833T>G | CA344837750 | USH2A | c.10490A>C (p.Asp3497Ala)
| |
| 1 | g.215782833T= | CA1142124448 | USH2A | c.10490A= (p.Asp3497=)
| |
| 1 | g.215782837_215782839del | CA529002351 | USH2A | c.10488_10490del (p.Glu3496del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782834C>A | CA344837751 | USH2A | c.10489G>T (p.Asp3497Tyr)
| |
| 1 | g.215782834C= | CA1220417542 | USH2A | c.10489G= (p.Asp3497=)
| |
| 1 | g.215782834C>G | CA344837752 | USH2A | c.10489G>C (p.Asp3497His)
| |
| 1 | g.215782834C>T | CA344837753 | USH2A | c.10489G>A (p.Asp3497Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782835T>A | CA344837754 | USH2A | c.10488A>T (p.Glu3496Asp)
| |
| 1 | g.215782835T>C | CA423313471 | USH2A | c.10488A>G (p.Glu3496=)
| |
| 1 | g.215782835T>G | CA344837755 | USH2A | c.10488A>C (p.Glu3496Asp)
| |
| 1 | g.215782836T>A | CA344837756 | USH2A | c.10487A>T (p.Glu3496Val)
| |
| 1 | g.215782836T>C | CA344837757 | USH2A | c.10487A>G (p.Glu3496Gly)
| gnomAD v4 |
| 1 | g.215782836T>G | CA1394003 | USH2A | c.10487A>C (p.Glu3496Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782836T= | CA1141876969 | USH2A | c.10487A= (p.Glu3496=)
| |
| 1 | g.215782837C>A | CA344837758 | USH2A | c.10486G>T (p.Glu3496Ter)
| ClinVar |
| 1 | g.215782837C>G | CA344837759 | USH2A | c.10486G>C (p.Glu3496Gln)
| |
| 1 | g.215782837C>T | CA344837760 | USH2A | c.10486G>A (p.Glu3496Lys)
| |
| 1 | g.215782838T>A | CA344837762 | USH2A | c.10485A>T (p.Lys3495Asn)
| |
| 1 | g.215782838T>C | CA423313472 | USH2A | c.10485A>G (p.Lys3495=)
| |
| 1 | g.215782838T>G | CA344837761 | USH2A | c.10485A>C (p.Lys3495Asn)
| |
| 1 | g.215782839T>A | CA344837763 | USH2A | c.10484A>T (p.Lys3495Ile)
| |
| 1 | g.215782839T>C | CA344837764 | USH2A | c.10484A>G (p.Lys3495Arg)
| gnomAD v4 |
| 1 | g.215782839T>G | CA344837765 | USH2A | c.10484A>C (p.Lys3495Thr)
| |
| 1 | g.215782840T>A | CA344837766 | USH2A | c.10483A>T (p.Lys3495Ter)
| |
| 1 | g.215782840T>C | CA344837767 | USH2A | c.10483A>G (p.Lys3495Glu)
| gnomAD v4 |
| 1 | g.215782840T>G | CA344837768 | USH2A | c.10483A>C (p.Lys3495Gln)
| |
| 1 | g.215782841T>A | CA423313473 | USH2A | c.10482A>T (p.Thr3494=)
| |
| 1 | g.215782841T>C | CA423313474 | USH2A | c.10482A>G (p.Thr3494=)
| |
| 1 | g.215782841T>G | CA423313475 | USH2A | c.10482A>C (p.Thr3494=)
| |
| 1 | g.215782842G>A | CA344837769 | USH2A | c.10481C>T (p.Thr3494Ile)
| |
| 1 | g.215782842G>C | CA344837770 | USH2A | c.10481C>G (p.Thr3494Arg)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782842G= | CA1220417548 | USH2A | c.10481C= (p.Thr3494=)
| |
| 1 | g.215782842G>T | CA344837771 | USH2A | c.10481C>A (p.Thr3494Lys)
| |
| 1 | g.215782843T>A | CA344837772 | USH2A | c.10480A>T (p.Thr3494Ser)
| |
| 1 | g.215782843T>C | CA344837773 | USH2A | c.10480A>G (p.Thr3494Ala)
| |
| 1 | g.215782843T>G | CA344837774 | USH2A | c.10480A>C (p.Thr3494Pro)
| |
| 1 | g.215782844T>A | CA344837775 | USH2A | c.10479A>T (p.Arg3493Ser)
| dbSNP |
| 1 | g.215782844T>C | CA423313476 | USH2A | c.10479A>G (p.Arg3493=)
| |
| 1 | g.215782844T>G | CA344837776 | USH2A | c.10479A>C (p.Arg3493Ser)
| |
| 1 | g.215782845C>A | CA1394004 | USH2A | c.10478G>T (p.Arg3493Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782845C= | CA1143466588 | USH2A | c.10478G= (p.Arg3493=)
| |
| 1 | g.215782845C>G | CA344837778 | USH2A | c.10478G>C (p.Arg3493Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215782845C>T | CA344837777 | USH2A | c.10478G>A (p.Arg3493Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782846T>A | CA344837779 | USH2A | c.10477A>T (p.Arg3493Ter)
| |
| 1 | g.215782846T>C | CA344837780 | USH2A | c.10477A>G (p.Arg3493Gly)
| COSMIC COSMIC |
| 1 | g.215782846T>G | CA423313477 | USH2A | c.10477A>C (p.Arg3493=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215782846T= | CA1220417559 | USH2A | c.10477A= (p.Arg3493=)
| |
| 1 | g.215782847G>A | CA423313478 | USH2A | c.10476C>T (p.Ala3492=)
| |
| 1 | g.215782847G>C | CA423313479 | USH2A | c.10476C>G (p.Ala3492=)
| |
| 1 | g.215782847G>T | CA423313481 | USH2A | c.10476C>A (p.Ala3492=)
| |
| 1 | g.215782848G>A | CA344837785 | USH2A | c.10475C>T (p.Ala3492Val)
| |
| 1 | g.215782848G>C | CA344837787 | USH2A | c.10475C>G (p.Ala3492Gly)
| |
| 1 | g.215782848G>T | CA344837789 | USH2A | c.10475C>A (p.Ala3492Asp)
| |
| 1 | g.215782849C>A | CA1394006 | USH2A | c.10474G>T (p.Ala3492Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782849C= | CA1220417565 | USH2A | c.10474G= (p.Ala3492=)
| |
| 1 | g.215782849C>G | CA344837794 | USH2A | c.10474G>C (p.Ala3492Pro)
| |
| 1 | g.215782849C>T | CA1394005 | USH2A | c.10474G>A (p.Ala3492Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782850T>A | CA344837798 | USH2A | c.10473A>T (p.Arg3491Ser)
| |
| 1 | g.215782850T>C | CA423313484 | USH2A | c.10473A>G (p.Arg3491=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215782850T>G | CA344837799 | USH2A | c.10473A>C (p.Arg3491Ser)
| |
| 1 | g.215782850T= | CA1220417572 | USH2A | c.10473A= (p.Arg3491=)
| |
| 1 | g.215782851C>A | CA344837802 | USH2A | c.10472G>T (p.Arg3491Ile)
| |
| 1 | g.215782851C= | CA1142096411 | USH2A | c.10472G= (p.Arg3491=)
| |
| 1 | g.215782851C>G | CA344837804 | USH2A | c.10472G>C (p.Arg3491Thr)
| |
| 1 | g.215782851C>T | CA1394007 | USH2A | c.10472G>A (p.Arg3491Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215782852T>A | CA344837809 | USH2A | c.10471A>T (p.Arg3491Ter)
| |
| 1 | g.215782852T>C | CA344837812 | USH2A | c.10471A>G (p.Arg3491Gly)
| |
| 1 | g.215782852T>G | CA423313485 | USH2A | c.10471A>C (p.Arg3491=)
| gnomAD v4 |
