1 | g.215673953_215675415del | CA1139656543 | USH2A | c.12497_13811+148del
| ClinVar |
1 | g.215674345A>C | CA423427759 | USH2A | c.13566T>G (p.Leu4522=)
| |
1 | g.215674345A>G | CA423427756 | USH2A | c.13566T>C (p.Leu4522=)
| |
1 | g.215674345A>T | CA423427754 | USH2A | c.13566T>A (p.Leu4522=)
| |
1 | g.215674346A>C | CA344844577 | USH2A | c.13565T>G (p.Leu4522Arg)
| |
1 | g.215674346A>G | CA344844582 | USH2A | c.13565T>C (p.Leu4522Pro)
| |
1 | g.215674346A>T | CA344844579 | USH2A | c.13565T>A (p.Leu4522His)
| |
1 | g.215674347G>A | CA344844587 | USH2A | c.13564C>T (p.Leu4522Phe)
| dbSNP gnomAD v4 COSMIC COSMIC |
1 | g.215674347G>C | CA344844588 | USH2A | c.13564C>G (p.Leu4522Val)
| |
1 | g.215674347G= | CA1220373516 | USH2A | c.13564C= (p.Leu4522=)
| |
1 | g.215674347G>T | CA344844590 | USH2A | c.13564C>A (p.Leu4522Ile)
| |
1 | g.215674348A= | CA1141697644 | USH2A | c.13563T= (p.Pro4521=)
| |
1 | g.215674348A>C | CA423427765 | USH2A | c.13563T>G (p.Pro4521=)
| |
1 | g.215674348A>G | CA1393266 | USH2A | c.13563T>C (p.Pro4521=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215674348A>T | CA423427766 | USH2A | c.13563T>A (p.Pro4521=)
| |
1 | g.215674349G>A | CA37412329 | USH2A | c.13562C>T (p.Pro4521Leu)
| dbSNP |
1 | g.215674349G>C | CA344844594 | USH2A | c.13562C>G (p.Pro4521Arg)
| |
1 | g.215674349G= | CA1220373517 | USH2A | c.13562C= (p.Pro4521=)
| |
1 | g.215674349G>T | CA344844596 | USH2A | c.13562C>A (p.Pro4521His)
| gnomAD v4 |
1 | g.215674350G>A | CA344844598 | USH2A | c.13561C>T (p.Pro4521Ser)
| COSMIC COSMIC |
1 | g.215674350G>C | CA344844601 | USH2A | c.13561C>G (p.Pro4521Ala)
| |
1 | g.215674350G>T | CA344844604 | USH2A | c.13561C>A (p.Pro4521Thr)
| |
1 | g.215674351A>C | CA344844606 | USH2A | c.13560T>G (p.Ser4520Arg)
| |
1 | g.215674351A>G | CA423427775 | USH2A | c.13560T>C (p.Ser4520=)
| |
1 | g.215674351A>T | CA344844608 | USH2A | c.13560T>A (p.Ser4520Arg)
| gnomAD v4 |
1 | g.215674352C>A | CA344844616 | USH2A | c.13559G>T (p.Ser4520Ile)
| |
1 | g.215674352C>G | CA344844613 | USH2A | c.13559G>C (p.Ser4520Thr)
| |
1 | g.215674352C>T | CA344844609 | USH2A | c.13559G>A (p.Ser4520Asn)
| COSMIC COSMIC |
1 | g.215674353T>A | CA344844619 | USH2A | c.13558A>T (p.Ser4520Cys)
| |
1 | g.215674353T>C | CA344844624 | USH2A | c.13558A>G (p.Ser4520Gly)
| |
1 | g.215674353T>G | CA344844621 | USH2A | c.13558A>C (p.Ser4520Arg)
| |
1 | g.215674354C>A | CA344844627 | USH2A | c.13557G>T (p.Leu4519Phe)
| |
1 | g.215674354C= | CA1220373518 | USH2A | c.13557G= (p.Leu4519=)
| |
1 | g.215674354C>G | CA344844629 | USH2A | c.13557G>C (p.Leu4519Phe)
| |
1 | g.215674354C>T | CA423427803 | USH2A | c.13557G>A (p.Leu4519=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215674354_215674355del | CA913072751 | USH2A | c.13556_13557del (p.Leu4519Ter)
| |
1 | g.215674354_215674355delinsCA | CA1220373519 | USH2A | c.13556_13557delinsTG (p.Leu4519=)
| |
1 | g.215674355A>C | CA344844632 | USH2A | c.13556T>G (p.Leu4519Trp)
| |
1 | g.215674355A>G | CA344844635 | USH2A | c.13556T>C (p.Leu4519Ser)
| |
1 | g.215674355A>T | CA344844636 | USH2A | c.13556T>A (p.Leu4519Ter)
| |
1 | g.215674358del | CA658822640 | USH2A | c.13556del (p.Leu4519Ter)
| ClinVar dbSNP |
1 | g.215674356A= | CA1220373520 | USH2A | c.13555T= (p.Leu4519=)
| |
1 | g.215674356A>C | CA344844638 | USH2A | c.13555T>G (p.Leu4519Val)
| |
1 | g.215674356A>G | CA423427809 | USH2A | c.13555T>C (p.Leu4519=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215674356A>T | CA344844639 | USH2A | c.13555T>A (p.Leu4519Met)
| |
1 | g.215674356_215674357insG | CA2650500254 | USH2A | c.13554_13555insC (p.Ser4520GlufsTer?)
| gnomAD v4 |
1 | g.215674357A>C | CA344844642 | USH2A | c.13554T>G (p.Ile4518Met)
| |
1 | g.215674357A>G | CA423427814 | USH2A | c.13554T>C (p.Ile4518=)
| |
1 | g.215674357A>T | CA423427815 | USH2A | c.13554T>A (p.Ile4518=)
| |
1 | g.215674358A>C | CA344844643 | USH2A | c.13553T>G (p.Ile4518Ser)
| gnomAD v4 |