Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189251T>A | CA387461374 | GJB2 | c.331A>T (p.Ile111Leu) | |
13 | g.20189251T>C | CA246460323 | GJB2 | c.331A>G (p.Ile111Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189251T>G | CA387461375 | GJB2 | c.331A>C (p.Ile111Leu) | |
13 | g.20189251T= | CA2077139486 | GJB2 | c.331A= (p.Ile111=) | |
13 | g.20189252C>A | CA387461376 | GJB2 | c.330G>T (p.Glu110Asp) | |
13 | g.20189252C>G | CA387461377 | GJB2 | c.330G>C (p.Glu110Asp) | |
13 | g.20189252C>T | CA483153736 | GJB2 | c.330G>A (p.Glu110=) | ClinVar |
13 | g.20189252_20189268delinsCTCCCCCTTGATGAACT | CA2077139491 | GJB2 | c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=) | |
13 | g.20189253del | CA2695217677 | GJB2 | c.329del (p.Glu110GlyfsTer2) | |
13 | g.20189253T>A | CA387461378 | GJB2 | c.329A>T (p.Glu110Val) | |
13 | g.20189253T>C | CA387461379 | GJB2 | c.329A>G (p.Glu110Gly) | gnomAD v4 |
13 | g.20189253T>G | CA387461380 | GJB2 | c.329A>C (p.Glu110Ala) | |
13 | g.20189253_20189255delinsTCC | CA2077139497 | GJB2 | c.327_329delinsGGA (p.Gly109=) | |
13 | g.20189256_20189271del | CA277273 | GJB2 | c.314_329del (p.Lys105ArgfsTer2) | ClinVar dbSNP |
13 | g.20189254C>A | CA6904280 | GJB2 | c.328G>T (p.Glu110Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189254C= | CA2077139502 | GJB2 | c.328G= (p.Glu110=) | |
13 | g.20189254C>G | CA387461381 | GJB2 | c.328G>C (p.Glu110Gln) | |
13 | g.20189254C>T | CA387461382 | GJB2 | c.328G>A (p.Glu110Lys) | |
13 | g.20189254_20189255delinsT | CA658823452 | GJB2 | c.327_328delinsA (p.Glu110ArgfsTer2) | ClinVar dbSNP |
13 | g.20189258del | CA2580086790 | GJB2 | c.328del (p.Glu110ArgfsTer2) | ClinVar gnomAD v4 |
13 | g.20189257_20189258del | CA2695217678 | GJB2 | c.327_328del (p.Glu110AspfsTer4) | |
13 | g.20189255C>A | CA246460332 | GJB2 | c.327G>T (p.Gly109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189255C= | CA2077139508 | GJB2 | c.327G= (p.Gly109=) | |
13 | g.20189255C>G | CA483153737 | GJB2 | c.327G>C (p.Gly109=) | |
13 | g.20189255C>T | CA246460335 | GJB2 | c.327G>A (p.Gly109=) | ClinVar dbSNP gnomAD v4 |
13 | g.20189255_20189268del | CA2695217679 | GJB2 | c.314_327del (p.Lys105ArgfsTer5) | |
13 | g.20189255_20189269delinsCCCCTTGATGAACTT | CA2077139507 | GJB2 | c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=) | |
13 | g.20189256C>A | CA387461383 | GJB2 | c.326G>T (p.Gly109Val) | ClinVar dbSNP |
13 | g.20189256C= | CA2077139513 | GJB2 | c.326G= (p.Gly109=) | |
13 | g.20189256C>G | CA387461384 | GJB2 | c.326G>C (p.Gly109Ala) | |
13 | g.20189256C>T | CA6904281 | GJB2 | c.326G>A (p.Gly109Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189258_20189271del | CA172223 | GJB2 | c.313_326del (p.Lys105GlyfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189257C>A | CA387461386 | GJB2 | c.325G>T (p.Gly109Trp) | dbSNP |
13 | g.20189257C= | CA2077139516 | GJB2 | c.325G= (p.Gly109=) | |
13 | g.20189257C>G | CA246460357 | GJB2 | c.325G>C (p.Gly109Arg) | dbSNP |
13 | g.20189257C>T | CA387461385 | GJB2 | c.325G>A (p.Gly109Arg) | COSMIC |
13 | g.20189258C>A | CA387461387 | GJB2 | c.324G>T (p.Lys108Asn) | |
13 | g.20189258C= | CA2077139518 | GJB2 | c.324G= (p.Lys108=) | |
13 | g.20189258C>G | CA387461388 | GJB2 | c.324G>C (p.Lys108Asn) | |
13 | g.20189258C>T | CA483153738 | GJB2 | c.324G>A (p.Lys108=) | ClinVar dbSNP |
13 | g.20189259T>A | CA387461389 | GJB2 | c.323A>T (p.Lys108Met) | |
13 | g.20189259T>C | CA387461390 | GJB2 | c.323A>G (p.Lys108Arg) | |
13 | g.20189259T>G | CA387461391 | GJB2 | c.323A>C (p.Lys108Thr) | dbSNP gnomAD v4 |
13 | g.20189259T= | CA2077139524 | GJB2 | c.323A= (p.Lys108=) | |
13 | g.20189259_20189272del | CA2695217680 | GJB2 | c.310_323del (p.Arg104GlyfsTer6) | |
13 | g.20189260T>A | CA387461392 | GJB2 | c.322A>T (p.Lys108Ter) | |
13 | g.20189260T>C | CA387461393 | GJB2 | c.322A>G (p.Lys108Glu) | ClinVar dbSNP |
13 | g.20189260T>G | CA387461394 | GJB2 | c.322A>C (p.Lys108Gln) | |
13 | g.20189260T= | CA2077139528 | GJB2 | c.322A= (p.Lys108=) | |
13 | g.20189261G>A | CA246460358 | GJB2 | c.321C>T (p.Ile107=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |