1 | g.215779942C>A | CA344833876 | USH2A | c.10840G>T (p.Glu3614Ter)
| |
1 | g.215779942C>G | CA344833881 | USH2A | c.10840G>C (p.Glu3614Gln)
| |
1 | g.215779942C>T | CA344833879 | USH2A | c.10840G>A (p.Glu3614Lys)
| gnomAD v4 |
1 | g.215779943A= | CA1220414604 | USH2A | c.10839T= (p.Pro3613=)
| |
1 | g.215779943A>C | CA423312976 | USH2A | c.10839T>G (p.Pro3613=)
| |
1 | g.215779943A>G | CA37435785 | USH2A | c.10839T>C (p.Pro3613=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215779943A>T | CA423312977 | USH2A | c.10839T>A (p.Pro3613=)
| COSMIC |
1 | g.215779944G>A | CA344833886 | USH2A | c.10838C>T (p.Pro3613Leu)
| |
1 | g.215779944G>C | CA344833891 | USH2A | c.10838C>G (p.Pro3613Arg)
| |
1 | g.215779944G= | CA1220414609 | USH2A | c.10838C= (p.Pro3613=)
| |
1 | g.215779944G>T | CA344833895 | USH2A | c.10838C>A (p.Pro3613His)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.215779945G>A | CA344833899 | USH2A | c.10837C>T (p.Pro3613Ser)
| |
1 | g.215779945G>C | CA344833904 | USH2A | c.10837C>G (p.Pro3613Ala)
| |
1 | g.215779945G= | CA1220414611 | USH2A | c.10837C= (p.Pro3613=)
| |
1 | g.215779945G>T | CA344833914 | USH2A | c.10837C>A (p.Pro3613Thr)
| dbSNP gnomAD v4 |
1 | g.215779946G>A | CA423312978 | USH2A | c.10836C>T (p.Val3612=)
| |
1 | g.215779946G>C | CA423312979 | USH2A | c.10836C>G (p.Val3612=)
| |
1 | g.215779946G= | CA1140717723 | USH2A | c.10836C= (p.Val3612=)
| |
1 | g.215779946G>T | CA143233 | USH2A | c.10836C>A (p.Val3612=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779947A>C | CA344833922 | USH2A | c.10835T>G (p.Val3612Gly)
| |
1 | g.215779947A>G | CA344833931 | USH2A | c.10835T>C (p.Val3612Ala)
| |
1 | g.215779947A>T | CA344833933 | USH2A | c.10835T>A (p.Val3612Asp)
| |
1 | g.215779948C>A | CA344833947 | USH2A | c.10834G>T (p.Val3612Phe)
| |
1 | g.215779948C= | CA1220414616 | USH2A | c.10834G= (p.Val3612=)
| |
1 | g.215779948C>G | CA344833944 | USH2A | c.10834G>C (p.Val3612Leu)
| |
1 | g.215779948C>T | CA1393910 | USH2A | c.10834G>A (p.Val3612Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215779949A>C | CA344833952 | USH2A | c.10833T>G (p.Ser3611Arg)
| |
1 | g.215779949A>G | CA423312980 | USH2A | c.10833T>C (p.Ser3611=)
| ClinVar dbSNP |
1 | g.215779949A>T | CA344833955 | USH2A | c.10833T>A (p.Ser3611Arg)
| gnomAD v4 |
1 | g.215779950C>A | CA344833958 | USH2A | c.10832G>T (p.Ser3611Ile)
| |
1 | g.215779950C>G | CA344833962 | USH2A | c.10832G>C (p.Ser3611Thr)
| |
1 | g.215779950C>T | CA344833965 | USH2A | c.10832G>A (p.Ser3611Asn)
| |
1 | g.215779951T>A | CA344833969 | USH2A | c.10831A>T (p.Ser3611Cys)
| |
1 | g.215779951T>C | CA344833971 | USH2A | c.10831A>G (p.Ser3611Gly)
| |
1 | g.215779951T>G | CA344833974 | USH2A | c.10831A>C (p.Ser3611Arg)
| |
1 | g.215779952C>A | CA344833979 | USH2A | c.10830G>T (p.Trp3610Cys)
| |
1 | g.215779952C>G | CA344833983 | USH2A | c.10830G>C (p.Trp3610Cys)
| |
1 | g.215779952C>T | CA344833987 | USH2A | c.10830G>A (p.Trp3610Ter)
| ClinVar |
1 | g.215779953C>A | CA344834000 | USH2A | c.10829G>T (p.Trp3610Leu)
| |
1 | g.215779953C>G | CA344834003 | USH2A | c.10829G>C (p.Trp3610Ser)
| |
1 | g.215779953C>T | CA344833996 | USH2A | c.10829G>A (p.Trp3610Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215779954A= | CA1220414625 | USH2A | c.10828T= (p.Trp3610=)
| |
1 | g.215779954A>C | CA344834008 | USH2A | c.10828T>G (p.Trp3610Gly)
| |
1 | g.215779954A>G | CA1393911 | USH2A | c.10828T>C (p.Trp3610Arg)
| dbSNP ExAC gnomAD v4 |
1 | g.215779954A>T | CA344834014 | USH2A | c.10828T>A (p.Trp3610Arg)
| |
1 | g.215779955G>A | CA1393912 | USH2A | c.10827C>T (p.Ser3609=)
| dbSNP ExAC |
1 | g.215779955G>C | CA344834020 | USH2A | c.10827C>G (p.Ser3609Arg)
| |
1 | g.215779955G= | CA1141733210 | USH2A | c.10827C= (p.Ser3609=)
| |
1 | g.215779955G>T | CA344834025 | USH2A | c.10827C>A (p.Ser3609Arg)
| |
1 | g.215779956C>A | CA180688 | USH2A | c.10826G>T (p.Ser3609Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |