1 | g.215650592C>A | CA423308831 | USH2A | c.14343G>T (p.Val4781=)
| |
1 | g.215650592C>G | CA423308834 | USH2A | c.14343G>C (p.Val4781=)
| |
1 | g.215650592C>T | CA423308832 | USH2A | c.14343G>A (p.Val4781=)
| |
1 | g.215650593A>C | CA344834791 | USH2A | c.14342T>G (p.Val4781Gly)
| |
1 | g.215650593A>G | CA344834792 | USH2A | c.14342T>C (p.Val4781Ala)
| |
1 | g.215650593A>T | CA344834793 | USH2A | c.14342T>A (p.Val4781Glu)
| |
1 | g.215650594C>A | CA344834796 | USH2A | c.14341G>T (p.Val4781Leu)
| gnomAD v4 |
1 | g.215650594C>G | CA344834795 | USH2A | c.14341G>C (p.Val4781Leu)
| gnomAD v4 |
1 | g.215650594C>T | CA344834794 | USH2A | c.14341G>A (p.Val4781Met)
| |
1 | g.215650595T>A | CA423308844 | USH2A | c.14340A>T (p.Thr4780=)
| gnomAD v4 |
1 | g.215650595T>C | CA423308849 | USH2A | c.14340A>G (p.Thr4780=)
| |
1 | g.215650595T>G | CA423308851 | USH2A | c.14340A>C (p.Thr4780=)
| |
1 | g.215650596G>A | CA344834797 | USH2A | c.14339C>T (p.Thr4780Ile)
| COSMIC COSMIC |
1 | g.215650596G>C | CA344834798 | USH2A | c.14339C>G (p.Thr4780Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215650596G= | CA1220363918 | USH2A | c.14339C= (p.Thr4780=)
| |
1 | g.215650596G>T | CA344834799 | USH2A | c.14339C>A (p.Thr4780Lys)
| |
1 | g.215650597T>A | CA344834800 | USH2A | c.14338A>T (p.Thr4780Ser)
| |
1 | g.215650597T>C | CA1393058 | USH2A | c.14338A>G (p.Thr4780Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215650597T>G | CA344834802 | USH2A | c.14338A>C (p.Thr4780Pro)
| |
1 | g.215650597T= | CA1148266455 | USH2A | c.14338A= (p.Thr4780=)
| |
1 | g.215650598C>A | CA344834808 | USH2A | c.14337G>T (p.Glu4779Asp)
| |
1 | g.215650598C>G | CA344834805 | USH2A | c.14337G>C (p.Glu4779Asp)
| |
1 | g.215650598C>T | CA423308860 | USH2A | c.14337G>A (p.Glu4779=)
| |
1 | g.215650598_215650599delinsCT | CA1220363919 | USH2A | c.14336_14337delinsAG (p.Glu4779=)
| |
1 | g.215650599del | CA529002138 | USH2A | c.14336del (p.Glu4779GlyfsTer27)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.215650599T>A | CA344834812 | USH2A | c.14336A>T (p.Glu4779Val)
| |
1 | g.215650599T>C | CA344834815 | USH2A | c.14336A>G (p.Glu4779Gly)
| |
1 | g.215650599T>G | CA344834818 | USH2A | c.14336A>C (p.Glu4779Ala)
| |
1 | g.215650600C>A | CA344834822 | USH2A | c.14335G>T (p.Glu4779Ter)
| |
1 | g.215650600C= | CA1220363920 | USH2A | c.14335G= (p.Glu4779=)
| |
1 | g.215650600C>G | CA344834827 | USH2A | c.14335G>C (p.Glu4779Gln)
| |
1 | g.215650600C>T | CA1393059 | USH2A | c.14335G>A (p.Glu4779Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215650601A>C | CA423308865 | USH2A | c.14334T>G (p.Ala4778=)
| |
1 | g.215650601A>G | CA423308867 | USH2A | c.14334T>C (p.Ala4778=)
| |
1 | g.215650601A>T | CA423308864 | USH2A | c.14334T>A (p.Ala4778=)
| |
1 | g.215650602del | CA423308872 | USH2A | c.14333del (p.Ala4778ValfsTer28)
| |
1 | g.215650602G>A | CA344834830 | USH2A | c.14333C>T (p.Ala4778Val)
| |
1 | g.215650602G>C | CA344834834 | USH2A | c.14333C>G (p.Ala4778Gly)
| |
1 | g.215650602G= | CA1141337670 | USH2A | c.14333C= (p.Ala4778=)
| |
1 | g.215650602G>T | CA143348 | USH2A | c.14333C>A (p.Ala4778Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215650603C>A | CA183758 | USH2A | c.14332G>T (p.Ala4778Ser)
| ClinVar dbSNP |
1 | g.215650603C= | CA1148224954 | USH2A | c.14332G= (p.Ala4778=)
| |
1 | g.215650603C>G | CA344834837 | USH2A | c.14332G>C (p.Ala4778Pro)
| |
1 | g.215650603C>T | CA344834838 | USH2A | c.14332G>A (p.Ala4778Thr)
| |
1 | g.215650604C>A | CA423308876 | USH2A | c.14331G>T (p.Gly4777=)
| |
1 | g.215650604C= | CA1220363921 | USH2A | c.14331G= (p.Gly4777=)
| |
1 | g.215650604C>G | CA423308881 | USH2A | c.14331G>C (p.Gly4777=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215650604C>T | CA423308883 | USH2A | c.14331G>A (p.Gly4777=)
| gnomAD v4 |
1 | g.215650605C>A | CA344834839 | USH2A | c.14330G>T (p.Gly4777Val)
| |
1 | g.215650605C>G | CA344834840 | USH2A | c.14330G>C (p.Gly4777Ala)
| gnomAD v4 |