Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189199A>C | CA387461263 | GJB2 | c.383T>G (p.Ile128Ser) | |
13 | g.20189199A>G | CA387461262 | GJB2 | c.383T>C (p.Ile128Thr) | |
13 | g.20189199A>T | CA387461261 | GJB2 | c.383T>A (p.Ile128Asn) | |
13 | g.20189199_20189205dup | CA2695217670 | GJB2 | c.377_383dup (p.Glu129ProfsTer?) | |
13 | g.20189200T>A | CA387461264 | GJB2 | c.382A>T (p.Ile128Phe) | |
13 | g.20189200T>C | CA387461265 | GJB2 | c.382A>G (p.Ile128Val) | ClinVar dbSNP gnomAD v4 |
13 | g.20189200T>G | CA387461266 | GJB2 | c.382A>C (p.Ile128Leu) | |
13 | g.20189200T= | CA2077139357 | GJB2 | c.382A= (p.Ile128=) | |
13 | g.20189201G>A | CA483153994 | GJB2 | c.381C>T (p.Arg127=) | |
13 | g.20189201G>C | CA483153993 | GJB2 | c.381C>G (p.Arg127=) | |
13 | g.20189201G= | CA2077139360 | GJB2 | c.381C= (p.Arg127=) | |
13 | g.20189201G>T | CA483153992 | GJB2 | c.381C>A (p.Arg127=) | dbSNP |
13 | g.20189202C>A | CA241521 | GJB2 | c.380G>T (p.Arg127Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189202C= | CA2077139366 | GJB2 | c.380G= (p.Arg127=) | |
13 | g.20189202C>G | CA387461267 | GJB2 | c.380G>C (p.Arg127Pro) | |
13 | g.20189202C>T | CA134966 | GJB2 | c.380G>A (p.Arg127His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189203G>A | CA176158 | GJB2 | c.379C>T (p.Arg127Cys) | ClinVar dbSNP gnomAD v4 |
13 | g.20189203G>C | CA246460225 | GJB2 | c.379C>G (p.Arg127Gly) | ClinVar dbSNP |
13 | g.20189203G= | CA2077139371 | GJB2 | c.379C= (p.Arg127=) | |
13 | g.20189203G>T | CA387461268 | GJB2 | c.379C>A (p.Arg127Ser) | |
13 | g.20189204G>A | CA483153995 | GJB2 | c.378C>T (p.Val126=) | gnomAD v4 |
13 | g.20189204G>C | CA483153996 | GJB2 | c.378C>G (p.Val126=) | |
13 | g.20189204G>T | CA483153997 | GJB2 | c.378C>A (p.Val126=) | ClinVar dbSNP |
13 | g.20189204_20189205insTCCGCAT | CA2695217671 | GJB2 | c.377_378insATGCGGA (p.Arg127CysfsTer?) | |
13 | g.20189205A>C | CA387461269 | GJB2 | c.377T>G (p.Val126Gly) | |
13 | g.20189205A>G | CA387461270 | GJB2 | c.377T>C (p.Val126Ala) | gnomAD v4 |
13 | g.20189205A>T | CA387461271 | GJB2 | c.377T>A (p.Val126Asp) | |
13 | g.20189206C>A | CA387461272 | GJB2 | c.376G>T (p.Val126Phe) | |
13 | g.20189206C= | CA2077139375 | GJB2 | c.376G= (p.Val126=) | |
13 | g.20189206C>G | CA387461273 | GJB2 | c.376G>C (p.Val126Leu) | |
13 | g.20189206C>T | CA6904275 | GJB2 | c.376G>A (p.Val126Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189207C>A | CA387461274 | GJB2 | c.375G>T (p.Lys125Asn) | |
13 | g.20189207C= | CA2077139380 | GJB2 | c.375G= (p.Lys125=) | |
13 | g.20189207C>G | CA387461275 | GJB2 | c.375G>C (p.Lys125Asn) | |
13 | g.20189207C>T | CA483153998 | GJB2 | c.375G>A (p.Lys125=) | dbSNP gnomAD v4 |
13 | g.20189208T>A | CA387461276 | GJB2 | c.374A>T (p.Lys125Met) | |
13 | g.20189208T>C | CA387461277 | GJB2 | c.374A>G (p.Lys125Arg) | gnomAD v4 |
13 | g.20189208T>G | CA387461278 | GJB2 | c.374A>C (p.Lys125Thr) | |
13 | g.20189209T>A | CA387461279 | GJB2 | c.373A>T (p.Lys125Ter) | |
13 | g.20189209T>C | CA387461281 | GJB2 | c.373A>G (p.Lys125Glu) | |
13 | g.20189209T>G | CA387461280 | GJB2 | c.373A>C (p.Lys125Gln) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189209T= | CA2077139383 | GJB2 | c.373A= (p.Lys125=) | |
13 | g.20189210C>A | CA387461282 | GJB2 | c.372G>T (p.Gln124His) | |
13 | g.20189210C>G | CA387461283 | GJB2 | c.372G>C (p.Gln124His) | |
13 | g.20189210C>T | CA483153999 | GJB2 | c.372G>A (p.Gln124=) | |
13 | g.20189211T>A | CA387461284 | GJB2 | c.371A>T (p.Gln124Leu) | |
13 | g.20189211T>C | CA387461285 | GJB2 | c.371A>G (p.Gln124Arg) | |
13 | g.20189211T>G | CA387461286 | GJB2 | c.371A>C (p.Gln124Pro) | ClinVar |
13 | g.20189211_20189212delinsTG | CA2077139387 | GJB2 | c.370_371delinsCA (p.Gln124=) | |
13 | g.20189212G>A | CA261645 | GJB2 | c.370C>T (p.Gln124Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |