Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.57041441C>A | CA254322 | MYO1A | c.1155G>T (p.Glu385Asp) c.669G>T (p.Glu223Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57041441C= | CA2038690724 | MYO1A | c.1155G= (p.Glu385=) c.669G= (p.Glu223=) | |
12 | g.57041441C>G | CA385383317 | MYO1A | c.1155G>C (p.Glu385Asp) c.669G>C (p.Glu223Asp) | |
12 | g.57041441C>T | CA480234389 | MYO1A | c.1155G>A (p.Glu385=) c.669G>A (p.Glu223=) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.57041442T>A | CA6640188 | MYO1A | c.1154A>T (p.Glu385Val) c.668A>T (p.Glu223Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57041442T>C | CA385383322 | MYO1A | c.1154A>G (p.Glu385Gly) c.668A>G (p.Glu223Gly) | gnomAD v4 |
12 | g.57041442T>G | CA385383324 | MYO1A | c.1154A>C (p.Glu385Ala) c.668A>C (p.Glu223Ala) | |
12 | g.57041442T= | CA2038690733 | MYO1A | c.1154A= (p.Glu385=) c.668A= (p.Glu223=) | |
12 | g.57041443C>A | CA385383326 | MYO1A | c.1153G>T (p.Glu385Ter) c.667G>T (p.Glu223Ter) | |
12 | g.57041443C>G | CA385383328 | MYO1A | c.1153G>C (p.Glu385Gln) c.667G>C (p.Glu223Gln) | |
12 | g.57041443C>T | CA385383332 | MYO1A | c.1153G>A (p.Glu385Lys) c.667G>A (p.Glu223Lys) | |
12 | g.57041444A>C | CA385383336 | MYO1A | c.1152T>G (p.Phe384Leu) c.666T>G (p.Phe222Leu) | gnomAD v4 |
12 | g.57041444A>G | CA480234404 | MYO1A | c.1152T>C (p.Phe384=) c.666T>C (p.Phe222=) | |
12 | g.57041444A>T | CA385383334 | MYO1A | c.1152T>A (p.Phe384Leu) c.666T>A (p.Phe222Leu) | |
12 | g.57041445A>C | CA385383341 | MYO1A | c.1151T>G (p.Phe384Cys) c.665T>G (p.Phe222Cys) | dbSNP |
12 | g.57041445A>G | CA385383344 | MYO1A | c.1151T>C (p.Phe384Ser) c.665T>C (p.Phe222Ser) | gnomAD v4 |
12 | g.57041445A>T | CA385383347 | MYO1A | c.1151T>A (p.Phe384Tyr) c.665T>A (p.Phe222Tyr) | |
12 | g.57041446A>C | CA385383351 | MYO1A | c.1150T>G (p.Phe384Val) c.664T>G (p.Phe222Val) | |
12 | g.57041446A>G | CA385383354 | MYO1A | c.1150T>C (p.Phe384Leu) c.664T>C (p.Phe222Leu) | |
12 | g.57041446A>T | CA385383356 | MYO1A | c.1150T>A (p.Phe384Ile) c.664T>A (p.Phe222Ile) | |
12 | g.57041447A>C | CA480234415 | MYO1A | c.1149T>G (p.Gly383=) c.663T>G (p.Gly221=) | |
12 | g.57041447A>G | CA480234417 | MYO1A | c.1149T>C (p.Gly383=) c.663T>C (p.Gly221=) | |
12 | g.57041447A>T | CA480234418 | MYO1A | c.1149T>A (p.Gly383=) c.663T>A (p.Gly221=) | |
12 | g.57041448C>A | CA385383359 | MYO1A | c.1148G>T (p.Gly383Val) c.662G>T (p.Gly221Val) | gnomAD v4 |
12 | g.57041448C= | CA2038690735 | MYO1A | c.1148G= (p.Gly383=) c.662G= (p.Gly221=) | |
12 | g.57041448C>G | CA385383361 | MYO1A | c.1148G>C (p.Gly383Ala) c.662G>C (p.Gly221Ala) | |
12 | g.57041448C>T | CA385383360 | MYO1A | c.1148G>A (p.Gly383Asp) c.662G>A (p.Gly221Asp) | dbSNP |
12 | g.57041449C>A | CA385383362 | MYO1A | c.1147G>T (p.Gly383Cys) c.661G>T (p.Gly221Cys) | dbSNP |
12 | g.57041449C= | CA2038690740 | MYO1A | c.1147G= (p.Gly383=) c.661G= (p.Gly221=) | |
12 | g.57041449C>G | CA385383366 | MYO1A | c.1147G>C (p.Gly383Arg) c.661G>C (p.Gly221Arg) | |
12 | g.57041449C>T | CA6640189 | MYO1A | c.1147G>A (p.Gly383Ser) c.661G>A (p.Gly221Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57041450G>A | CA6640190 | MYO1A | c.1146C>T (p.Tyr382=) c.660C>T (p.Tyr220=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.57041450G>C | CA385383375 | MYO1A | c.1146C>G (p.Tyr382Ter) c.660C>G (p.Tyr220Ter) | |
12 | g.57041450G= | CA2038690744 | MYO1A | c.1146C= (p.Tyr382=) c.660C= (p.Tyr220=) | |
12 | g.57041450G>T | CA385383377 | MYO1A | c.1146C>A (p.Tyr382Ter) c.660C>A (p.Tyr220Ter) | |
12 | g.57041451T>A | CA385383380 | MYO1A | c.1145A>T (p.Tyr382Phe) c.659A>T (p.Tyr220Phe) | |
12 | g.57041451T>C | CA385383382 | MYO1A | c.1145A>G (p.Tyr382Cys) c.659A>G (p.Tyr220Cys) | |
12 | g.57041451T>G | CA385383385 | MYO1A | c.1145A>C (p.Tyr382Ser) c.659A>C (p.Tyr220Ser) | |
12 | g.57041452A= | CA2038690778 | MYO1A | c.1144T= (p.Tyr382=) c.658T= (p.Tyr220=) | |
12 | g.57041452A>C | CA385383387 | MYO1A | c.1144T>G (p.Tyr382Asp) c.658T>G (p.Tyr220Asp) | |
12 | g.57041452A>G | CA237704025 | MYO1A | c.1144T>C (p.Tyr382His) c.658T>C (p.Tyr220His) | dbSNP |
12 | g.57041452A>T | CA385383393 | MYO1A | c.1144T>A (p.Tyr382Asn) c.658T>A (p.Tyr220Asn) | |
12 | g.57041453G>A | CA480234439 | MYO1A | c.1143C>T (p.Ile381=) c.657C>T (p.Ile219=) | |
12 | g.57041453G>C | CA385383396 | MYO1A | c.1143C>G (p.Ile381Met) c.657C>G (p.Ile219Met) | |
12 | g.57041453G>T | CA480234443 | MYO1A | c.1143C>A (p.Ile381=) c.657C>A (p.Ile219=) | |
12 | g.57041454A>C | CA385383403 | MYO1A | c.1142T>G (p.Ile381Ser) c.656T>G (p.Ile219Ser) | gnomAD v4 |
12 | g.57041454A>G | CA385383400 | MYO1A | c.1142T>C (p.Ile381Thr) c.656T>C (p.Ile219Thr) | gnomAD v4 |
12 | g.57041454A>T | CA385383405 | MYO1A | c.1142T>A (p.Ile381Asn) c.656T>A (p.Ile219Asn) | |
12 | g.57041455T>A | CA385383409 | MYO1A | c.1141A>T (p.Ile381Phe) c.655A>T (p.Ile219Phe) | gnomAD v4 |
12 | g.57041455T>C | CA385383415 | MYO1A | c.1141A>G (p.Ile381Val) c.655A>G (p.Ile219Val) | gnomAD v4 |