Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189199_20189205dup | CA2695217670 | GJB2 | c.377_383dup (p.Glu129ProfsTer?) | |
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 |
13 | g.20189212G>C | CA387461287 | GJB2 | c.370C>G (p.Gln124Glu) | |
13 | g.20189212G= | CA2077139394 | GJB2 | c.370C= (p.Gln124=) | |
13 | g.20189212G>T | CA387461288 | GJB2 | c.370C>A (p.Gln124Lys) | |
13 | g.20189214del | CA696362935 | GJB2 | c.370del (p.Gln124ArgfsTer?) | dbSNP |
13 | g.20189213G>A | CA483154000 | GJB2 | c.369C>T (p.Thr123=) | gnomAD v4 |
13 | g.20189213G>C | CA483154001 | GJB2 | c.369C>G (p.Thr123=) | |
13 | g.20189213G>T | CA483154002 | GJB2 | c.369C>A (p.Thr123=) | |
13 | g.20189214G>A | CA387461289 | GJB2 | c.368C>T (p.Thr123Ile) | |
13 | g.20189214G>C | CA387461290 | GJB2 | c.368C>G (p.Thr123Ser) | |
13 | g.20189214G= | CA2077139401 | GJB2 | c.368C= (p.Thr123=) | |
13 | g.20189214G>T | CA134964 | GJB2 | c.368C>A (p.Thr123Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189215T>A | CA387461293 | GJB2 | c.367A>T (p.Thr123Ser) | |
13 | g.20189215T>C | CA387461292 | GJB2 | c.367A>G (p.Thr123Ala) | |
13 | g.20189215T>G | CA387461291 | GJB2 | c.367A>C (p.Thr123Pro) | |
13 | g.20189218del | CA2695217672 | GJB2 | c.367del (p.Thr123ProfsTer?) |