| 1 | g.215648603T>A | CA344833434 | USH2A | c.14507A>T (p.Gln4836Leu)
| |
| 1 | g.215648603T>C | CA1393009 | USH2A | c.14507A>G (p.Gln4836Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648603T>G | CA344833437 | USH2A | c.14507A>C (p.Gln4836Pro)
| |
| 1 | g.215648603T= | CA1143415420 | USH2A | c.14507A= (p.Gln4836=)
| dbSNP |
| 1 | g.215648604G>A | CA344833441 | USH2A | c.14506C>T (p.Gln4836Ter)
| |
| 1 | g.215648604G>C | CA344833443 | USH2A | c.14506C>G (p.Gln4836Glu)
| |
| 1 | g.215648604G>T | CA344833439 | USH2A | c.14506C>A (p.Gln4836Lys)
| |
| 1 | g.215648605T>A | CA423425549 | USH2A | c.14505A>T (p.Pro4835=)
| |
| 1 | g.215648605T>C | CA423425550 | USH2A | c.14505A>G (p.Pro4835=)
| COSMIC COSMIC |
| 1 | g.215648605T>G | CA423425551 | USH2A | c.14505A>C (p.Pro4835=)
| |
| 1 | g.215648607_215648654del | CA2586968104 | USH2A | c.14458_14505del (p.Ala4820_Pro4835del)
| ClinVar |
| 1 | g.215648606G>A | CA344833447 | USH2A | c.14504C>T (p.Pro4835Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648606G>C | CA344833450 | USH2A | c.14504C>G (p.Pro4835Arg)
| |
| 1 | g.215648606G= | CA1220363177 | USH2A | c.14504C= (p.Pro4835=)
| dbSNP |
| 1 | g.215648606G>T | CA1393010 | USH2A | c.14504C>A (p.Pro4835Gln)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215648606_215648608delinsGGA | CA1220363178 | USH2A | c.14502_14504delinsTCC (p.Ser4834=)
| |
| 1 | g.215648607G>A | CA344833456 | USH2A | c.14503C>T (p.Pro4835Ser)
| dbSNP gnomAD v4 |
| 1 | g.215648607G>C | CA344833458 | USH2A | c.14503C>G (p.Pro4835Ala)
| |
| 1 | g.215648607G= | CA3077339192 | USH2A | c.14503C= (p.Pro4835=)
| dbSNP |
| 1 | g.215648607G>T | CA344833460 | USH2A | c.14503C>A (p.Pro4835Thr)
| |
| 1 | g.215648610_215648611del | CA275371 | USH2A | c.14502_14503del (p.Pro4835ThrfsTer28)
| ClinVar dbSNP |
| 1 | g.215648608A= | CA1220363179 | USH2A | c.14502T= (p.Ser4834=)
| dbSNP |
| 1 | g.215648608A>C | CA423425554 | USH2A | c.14502T>G (p.Ser4834=)
| |
| 1 | g.215648608A>G | CA1393011 | USH2A | c.14502T>C (p.Ser4834=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215648608A>T | CA423425555 | USH2A | c.14502T>A (p.Ser4834=)
| |
| 1 | g.215648609G>A | CA344833471 | USH2A | c.14501C>T (p.Ser4834Phe)
| dbSNP gnomAD v4 |
| 1 | g.215648609G>C | CA344833474 | USH2A | c.14501C>G (p.Ser4834Cys)
| |
| 1 | g.215648609G= | CA1220363180 | USH2A | c.14501C= (p.Ser4834=)
| dbSNP |
| 1 | g.215648609G>T | CA37390312 | USH2A | c.14501C>A (p.Ser4834Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648611_215648613del | CA2747716804 | USH2A | c.14499_14501del (p.Ser4834del)
| |
| 1 | g.215648610A>C | CA344833482 | USH2A | c.14500T>G (p.Ser4834Ala)
| |
| 1 | g.215648610A>G | CA344833479 | USH2A | c.14500T>C (p.Ser4834Pro)
| |
| 1 | g.215648610A>T | CA344833477 | USH2A | c.14500T>A (p.Ser4834Thr)
| |
| 1 | g.215648611G>A | CA1393012 | USH2A | c.14499C>T (p.Ser4833=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215648611G>C | CA423425557 | USH2A | c.14499C>G (p.Ser4833=)
| dbSNP gnomAD v4 |
| 1 | g.215648611G= | CA1220363181 | USH2A | c.14499C= (p.Ser4833=)
| dbSNP |
| 1 | g.215648611G>T | CA423425558 | USH2A | c.14499C>A (p.Ser4833=)
| |
| 1 | g.215648612G>A | CA1393013 | USH2A | c.14498C>T (p.Ser4833Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648612G>C | CA344833486 | USH2A | c.14498C>G (p.Ser4833Cys)
| |
| 1 | g.215648612G= | CA1143455195 | USH2A | c.14498C= (p.Ser4833=)
| dbSNP |
| 1 | g.215648612G>T | CA344833488 | USH2A | c.14498C>A (p.Ser4833Tyr)
| |
| 1 | g.215648613A= | CA1220363182 | USH2A | c.14497T= (p.Ser4833=)
| dbSNP |
| 1 | g.215648613A>C | CA344833492 | USH2A | c.14497T>G (p.Ser4833Ala)
| |
| 1 | g.215648613A>G | CA344833495 | USH2A | c.14497T>C (p.Ser4833Pro)
| dbSNP |
| 1 | g.215648613A>T | CA344833497 | USH2A | c.14497T>A (p.Ser4833Thr)
| |
| 1 | g.215648614C>A | CA423425560 | USH2A | c.14496G>T (p.Leu4832=)
| |
| 1 | g.215648614C= | CA3077339196 | USH2A | c.14496G= (p.Leu4832=)
| dbSNP |
| 1 | g.215648614C>G | CA423425562 | USH2A | c.14496G>C (p.Leu4832=)
| dbSNP gnomAD v4 |
| 1 | g.215648614C>T | CA423425561 | USH2A | c.14496G>A (p.Leu4832=)
| |
| 1 | g.215648615A= | CA1220363183 | USH2A | c.14495T= (p.Leu4832=)
| dbSNP |
