| 1 | g.215648607_215648654del | CA2586968104 | USH2A | c.14458_14505del (p.Ala4820_Pro4835del)
| ClinVar |
| 1 | g.215648610_215648611del | CA275371 | USH2A | c.14502_14503del (p.Pro4835ThrfsTer28)
| ClinVar dbSNP |
| 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 |
| 1 | g.215648615A>C | CA344833499 | USH2A | c.14495T>G (p.Leu4832Arg)
| ClinVar dbSNP |
| 1 | g.215648615A>G | CA344833502 | USH2A | c.14495T>C (p.Leu4832Pro)
| |
| 1 | g.215648615A>T | CA1393014 | USH2A | c.14495T>A (p.Leu4832Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648616G>A | CA423425563 | USH2A | c.14494C>T (p.Leu4832=)
| dbSNP gnomAD v4 |
| 1 | g.215648616G>C | CA344833505 | USH2A | c.14494C>G (p.Leu4832Val)
| COSMIC COSMIC |
| 1 | g.215648616G= | CA3077339200 | USH2A | c.14494C= (p.Leu4832=)
| dbSNP |
| 1 | g.215648616G>T | CA344833507 | USH2A | c.14494C>A (p.Leu4832Met)
| dbSNP gnomAD v4 |
| 1 | g.215648617T>A | CA1393015 | USH2A | c.14493A>T (p.Gly4831=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648617T>C | CA423425568 | USH2A | c.14493A>G (p.Gly4831=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215648617T>G | CA423425567 | USH2A | c.14493A>C (p.Gly4831=)
| |
| 1 | g.215648617T= | CA1141355512 | USH2A | c.14493A= (p.Gly4831=)
| dbSNP |
| 1 | g.215648618C>A | CA1393016 | USH2A | c.14492G>T (p.Gly4831Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648618C= | CA1149122078 | USH2A | c.14492G= (p.Gly4831=)
| dbSNP |
| 1 | g.215648618C>G | CA344833510 | USH2A | c.14492G>C (p.Gly4831Ala)
| |
| 1 | g.215648618C>T | CA344833512 | USH2A | c.14492G>A (p.Gly4831Glu)
| |
| 1 | g.215648619C>A | CA344833515 | USH2A | c.14491G>T (p.Gly4831Ter)
| |
| 1 | g.215648619C= | CA1141960492 | USH2A | c.14491G= (p.Gly4831=)
| dbSNP |
| 1 | g.215648619C>G | CA344833518 | USH2A | c.14491G>C (p.Gly4831Arg)
| |
| 1 | g.215648619C>T | CA1393017 | USH2A | c.14491G>A (p.Gly4831Arg)
| dbSNP ExAC |
| 1 | g.215648620T>A | CA423425573 | USH2A | c.14490A>T (p.Ser4830=)
| |
| 1 | g.215648620T>C | CA423425575 | USH2A | c.14490A>G (p.Ser4830=)
| |
| 1 | g.215648620T>G | CA423425574 | USH2A | c.14490A>C (p.Ser4830=)
| |
| 1 | g.215648621G>A | CA344833522 | USH2A | c.14489C>T (p.Ser4830Leu)
| |
