| 1 | g.215680270_215680292del | CA2586968200 | USH2A | c.12153_12175del (p.Glu4051AspfsTer?)
| |
| 1 | g.215680277A>C | CA344816346 | USH2A | c.12166T>G (p.Trp4056Gly)
| |
| 1 | g.215680277A>G | CA344816344 | USH2A | c.12166T>C (p.Trp4056Arg)
| |
| 1 | g.215680277A>T | CA344816342 | USH2A | c.12166T>A (p.Trp4056Arg)
| |
| 1 | g.215680279_215680286del | CA2650501212 | USH2A | c.12159_12166del (p.Ser4054AspfsTer?)
| gnomAD v4 |
| 1 | g.215680278A= | CA1220376375 | USH2A | c.12165T= (p.Pro4055=)
| |
| 1 | g.215680278A>C | CA423429915 | USH2A | c.12165T>G (p.Pro4055=)
| |
| 1 | g.215680278A>G | CA1393525 | USH2A | c.12165T>C (p.Pro4055=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215680278A>T | CA423429916 | USH2A | c.12165T>A (p.Pro4055=)
| |
| 1 | g.215680279G>A | CA344816356 | USH2A | c.12164C>T (p.Pro4055Leu)
| |
| 1 | g.215680279G>C | CA344816353 | USH2A | c.12164C>G (p.Pro4055Arg)
| |
| 1 | g.215680279G>T | CA344816358 | USH2A | c.12164C>A (p.Pro4055His)
| |
| 1 | g.215680281del | CA2573131610 | USH2A | c.12164del (p.Pro4055LeufsTer4)
| ClinVar dbSNP |
| 1 | g.215680280G>A | CA344816362 | USH2A | c.12163C>T (p.Pro4055Ser)
| |
| 1 | g.215680280G>C | CA344816368 | USH2A | c.12163C>G (p.Pro4055Ala)
| gnomAD v4 |
| 1 | g.215680280G>T | CA344816365 | USH2A | c.12163C>A (p.Pro4055Thr)
| |
| 1 | g.215680281G>A | CA423429918 | USH2A | c.12162C>T (p.Ser4054=)
| |
| 1 | g.215680281G>C | CA344816373 | USH2A | c.12162C>G (p.Ser4054Arg)
| |
| 1 | g.215680281G>T | CA344816376 | USH2A | c.12162C>A (p.Ser4054Arg)
| COSMIC COSMIC |
| 1 | g.215680282C>A | CA344816379 | USH2A | c.12161G>T (p.Ser4054Ile)
| ClinVar dbSNP |
| 1 | g.215680282C= | CA1220376378 | USH2A | c.12161G= (p.Ser4054=)
| |
| 1 | g.215680282C>G | CA344816382 | USH2A | c.12161G>C (p.Ser4054Thr)
| |
| 1 | g.215680282C>T | CA344816384 | USH2A | c.12161G>A (p.Ser4054Asn)
| |
| 1 | g.215680283T>A | CA344816387 | USH2A | c.12160A>T (p.Ser4054Cys)
| |
| 1 | g.215680283T>C | CA344816401 | USH2A | c.12160A>G (p.Ser4054Gly)
| |
| 1 | g.215680283T>G | CA344816403 | USH2A | c.12160A>C (p.Ser4054Arg)
| |
| 1 | g.215680284T>A | CA344816408 | USH2A | c.12159A>T (p.Leu4053Phe)
| |
| 1 | g.215680284T>C | CA423429921 | USH2A | c.12159A>G (p.Leu4053=)
| |
| 1 | g.215680284T>G | CA344816410 | USH2A | c.12159A>C (p.Leu4053Phe)
| |
| 1 | g.215680285A>C | CA344816414 | USH2A | c.12158T>G (p.Leu4053Ter)
| |
| 1 | g.215680285A>G | CA344816416 | USH2A | c.12158T>C (p.Leu4053Ser)
| |
| 1 | g.215680285A>T | CA344816419 | USH2A | c.12158T>A (p.Leu4053Ter)
| |
| 1 | g.215680286A>C | CA344816422 | USH2A | c.12157T>G (p.Leu4053Val)
| COSMIC COSMIC |
| 1 | g.215680286A>G | CA423429923 | USH2A | c.12157T>C (p.Leu4053=)
| |
| 1 | g.215680286A>T | CA344816425 | USH2A | c.12157T>A (p.Leu4053Ile)
| |
| 1 | g.215680287A>C | CA344816428 | USH2A | c.12156T>G (p.Ile4052Met)
| |
| 1 | g.215680287A>G | CA423429925 | USH2A | c.12156T>C (p.Ile4052=)
| |
| 1 | g.215680287A>T | CA423429924 | USH2A | c.12156T>A (p.Ile4052=)
| |
| 1 | g.215680288A= | CA1220376382 | USH2A | c.12155T= (p.Ile4052=)
| |
| 1 | g.215680288A>C | CA344816430 | USH2A | c.12155T>G (p.Ile4052Ser)
| |
| 1 | g.215680288A>G | CA344816436 | USH2A | c.12155T>C (p.Ile4052Thr)
| |
| 1 | g.215680288A>T | CA344816433 | USH2A | c.12155T>A (p.Ile4052Asn)
| dbSNP |
| 1 | g.215680289T>A | CA344816438 | USH2A | c.12154A>T (p.Ile4052Phe)
| |
| 1 | g.215680289T>C | CA344816452 | USH2A | c.12154A>G (p.Ile4052Val)
| |
| 1 | g.215680289T>G | CA344816455 | USH2A | c.12154A>C (p.Ile4052Leu)
| |
| 1 | g.215680291del | CA2580062358 | USH2A | c.12154del (p.Ile4052PhefsTer2)
| ClinVar |
| 1 | g.215680290T>A | CA344816459 | USH2A | c.12153A>T (p.Glu4051Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215680290T>C | CA423429927 | USH2A | c.12153A>G (p.Glu4051=)
| |
| 1 | g.215680290T>G | CA344816462 | USH2A | c.12153A>C (p.Glu4051Asp)
| |
| 1 | g.215680290T= | CA1220376384 | USH2A | c.12153A= (p.Glu4051=)
| |
