Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215934672G>A | CA344857392 | USH2A | c.7244C>T (p.Ser2415Leu) | |
1 | g.215934672G>C | CA262116 | USH2A | c.7244C>G (p.Ser2415Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.215934672G= | CA1144229178 | USH2A | c.7244C= (p.Ser2415=) | |
1 | g.215934672G>T | CA344857394 | USH2A | c.7244C>A (p.Ser2415Ter) | |
1 | g.215934673A>C | CA344857397 | USH2A | c.7243T>G (p.Ser2415Ala) | |
1 | g.215934673A>G | CA344857399 | USH2A | c.7243T>C (p.Ser2415Pro) | |
1 | g.215934673A>T | CA344857400 | USH2A | c.7243T>A (p.Ser2415Thr) | |
1 | g.215934674A>C | CA344857401 | USH2A | c.7242T>G (p.Ile2414Met) | |
1 | g.215934674A>G | CA423317271 | USH2A | c.7242T>C (p.Ile2414=) | |
1 | g.215934674A>T | CA423317273 | USH2A | c.7242T>A (p.Ile2414=) | |
1 | g.215934675A>C | CA344857406 | USH2A | c.7241T>G (p.Ile2414Ser) | |
1 | g.215934675A>G | CA344857405 | USH2A | c.7241T>C (p.Ile2414Thr) | |
1 | g.215934675A>T | CA344857403 | USH2A | c.7241T>A (p.Ile2414Asn) | |
1 | g.215934676T>A | CA344857408 | USH2A | c.7240A>T (p.Ile2414Phe) | |
1 | g.215934676T>C | CA344857410 | USH2A | c.7240A>G (p.Ile2414Val) | |
1 | g.215934676T>G | CA344857411 | USH2A | c.7240A>C (p.Ile2414Leu) | |
1 | g.215934677A>C | CA344857414 | USH2A | c.7239T>G (p.Asn2413Lys) | |
1 | g.215934677A>G | CA423317287 | USH2A | c.7239T>C (p.Asn2413=) | |
1 | g.215934677A>T | CA344857416 | USH2A | c.7239T>A (p.Asn2413Lys) | |
1 | g.215934678T>A | CA344857419 | USH2A | c.7238A>T (p.Asn2413Ile) | |
1 | g.215934678T>C | CA1394910 | USH2A | c.7238A>G (p.Asn2413Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215934678T>G | CA1394909 | USH2A | c.7238A>C (p.Asn2413Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215934678T= | CA1220483978 | USH2A | c.7238A= (p.Asn2413=) | |
1 | g.215934679T>A | CA344857425 | USH2A | c.7237A>T (p.Asn2413Tyr) | |
1 | g.215934679T>C | CA344857426 | USH2A | c.7237A>G (p.Asn2413Asp) | |
1 | g.215934679T>G | CA344857428 | USH2A | c.7237A>C (p.Asn2413His) | |
1 | g.215934680C>A | CA423317301 | USH2A | c.7236G>T (p.Val2412=) | |
1 | g.215934680C>G | CA423317302 | USH2A | c.7236G>C (p.Val2412=) | |
1 | g.215934680C>T | CA423317306 | USH2A | c.7236G>A (p.Val2412=) | gnomAD v4 |
1 | g.215934681A>C | CA344857430 | USH2A | c.7235T>G (p.Val2412Gly) | |
1 | g.215934681A>G | CA344857431 | USH2A | c.7235T>C (p.Val2412Ala) | |
1 | g.215934681A>T | CA344857433 | USH2A | c.7235T>A (p.Val2412Glu) | |
1 | g.215934682C>A | CA344857447 | USH2A | c.7234G>T (p.Val2412Leu) | |
1 | g.215934682C= | CA1220483979 | USH2A | c.7234G= (p.Val2412=) | |
1 | g.215934682C>G | CA37479440 | USH2A | c.7234G>C (p.Val2412Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215934682C>T | CA1394911 | USH2A | c.7234G>A (p.Val2412Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215934683T>A | CA344857453 | USH2A | c.7233A>T (p.Gln2411His) | |
1 | g.215934683T>C | CA423317323 | USH2A | c.7233A>G (p.Gln2411=) | ClinVar |
1 | g.215934683T>G | CA344857457 | USH2A | c.7233A>C (p.Gln2411His) | |
1 | g.215934684T>A | CA344857460 | USH2A | c.7232A>T (p.Gln2411Leu) | |
1 | g.215934684T>C | CA344857462 | USH2A | c.7232A>G (p.Gln2411Arg) | |
1 | g.215934684T>G | CA344857464 | USH2A | c.7232A>C (p.Gln2411Pro) | ClinVar |
1 | g.215934685G>A | CA344857466 | USH2A | c.7231C>T (p.Gln2411Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.215934685G>C | CA37479458 | USH2A | c.7231C>G (p.Gln2411Glu) | dbSNP |
1 | g.215934685G= | CA1220483980 | USH2A | c.7231C= (p.Gln2411=) | |
1 | g.215934685G>T | CA344857467 | USH2A | c.7231C>A (p.Gln2411Lys) | |
1 | g.215934686T>A | CA1394912 | USH2A | c.7230A>T (p.Val2410=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215934686T>C | CA423317340 | USH2A | c.7230A>G (p.Val2410=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215934686T>G | CA423317344 | USH2A | c.7230A>C (p.Val2410=) | |
1 | g.215934686T= | CA1143530703 | USH2A | c.7230A= (p.Val2410=) |