Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189236T>A | CA387461338 | GJB2 | c.346A>T (p.Lys116Ter) | |
13 | g.20189236T>C | CA387461339 | GJB2 | c.346A>G (p.Lys116Glu) | dbSNP |
13 | g.20189236T>G | CA387461340 | GJB2 | c.346A>C (p.Lys116Gln) | |
13 | g.20189236T= | CA2077139454 | GJB2 | c.346A= (p.Lys116=) | |
13 | g.20189237A= | CA2077139455 | GJB2 | c.345T= (p.Phe115=) | |
13 | g.20189237A>C | CA387461341 | GJB2 | c.345T>G (p.Phe115Leu) | dbSNP gnomAD v4 |
13 | g.20189237A>G | CA483154012 | GJB2 | c.345T>C (p.Phe115=) | |
13 | g.20189237A>T | CA387461342 | GJB2 | c.345T>A (p.Phe115Leu) | |
13 | g.20189239dup | CA2695217676 | GJB2 | c.345dup (p.Lys116Ter) | ClinVar |
13 | g.20189238A= | CA2077139456 | GJB2 | c.344T= (p.Phe115=) | |
13 | g.20189238A>C | CA387461343 | GJB2 | c.344T>G (p.Phe115Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189238A>G | CA387461344 | GJB2 | c.344T>C (p.Phe115Ser) | |
13 | g.20189238A>T | CA387461345 | GJB2 | c.344T>A (p.Phe115Tyr) | |
13 | g.20189239A= | CA2077139459 | GJB2 | c.343T= (p.Phe115=) | |
13 | g.20189239A>C | CA387461348 | GJB2 | c.343T>G (p.Phe115Val) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189239A>G | CA387461346 | GJB2 | c.343T>C (p.Phe115Leu) | |
13 | g.20189239A>T | CA387461347 | GJB2 | c.343T>A (p.Phe115Ile) | |
13 | g.20189240T>A | CA387461349 | GJB2 | c.342A>T (p.Glu114Asp) | |
13 | g.20189240T>C | CA483154013 | GJB2 | c.342A>G (p.Glu114=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189240T>G | CA387461350 | GJB2 | c.342A>C (p.Glu114Asp) | dbSNP |
13 | g.20189240T= | CA2077139461 | GJB2 | c.342A= (p.Glu114=) | |
13 | g.20189240_20189241delinsTT | CA2077139462 | GJB2 | c.341_342delinsAA (p.Glu114=) | |
13 | g.20189241dup | CA912980094 | GJB2 | c.342dup (p.Phe115IlefsTer2) | |
13 | g.20189241T>A | CA387461351 | GJB2 | c.341A>T (p.Glu114Val) | |
13 | g.20189241T>C | CA134960 | GJB2 | c.341A>G (p.Glu114Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.[20189241T>C;20189503C>T] | CA354398 | GJB2 | c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly]) | ClinVar |
13 | g.20189241T>G | CA387461352 | GJB2 | c.341A>C (p.Glu114Ala) | |
13 | g.20189241T= | CA2077139464 | GJB2 | c.341A= (p.Glu114=) | |
13 | g.20189241delinsAG | CA919221226 | GJB2 | c.341delinsCT (p.Glu114AlafsTer3) | dbSNP |
13 | g.20189243_20189246dup | CA608984165 | GJB2 | c.338_341dup (p.Phe115Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189242C>A | CA387461353 | GJB2 | c.340G>T (p.Glu114Ter) | |
13 | g.20189242C= | CA2077139466 | GJB2 | c.340G= (p.Glu114=) | |
13 | g.20189242C>G | CA387461354 | GJB2 | c.340G>C (p.Glu114Gln) | |
13 | g.20189242C>T | CA6904279 | GJB2 | c.340G>A (p.Glu114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189243A= | CA2077139470 | GJB2 | c.339T= (p.Ser113=) | |
13 | g.20189243A>C | CA342004 | GJB2 | c.339T>G (p.Ser113Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189243A>G | CA483154014 | GJB2 | c.339T>C (p.Ser113=) | |
13 | g.20189243A>T | CA387461355 | GJB2 | c.339T>A (p.Ser113Arg) | |
13 | g.20189244C>A | CA387461356 | GJB2 | c.338G>T (p.Ser113Ile) | |
13 | g.20189244C>G | CA387461357 | GJB2 | c.338G>C (p.Ser113Thr) | |
13 | g.20189244C>T | CA387461358 | GJB2 | c.338G>A (p.Ser113Asn) | |
13 | g.20189245T>A | CA387461360 | GJB2 | c.337A>T (p.Ser113Cys) | |
13 | g.20189245T>C | CA387461361 | GJB2 | c.337A>G (p.Ser113Gly) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189245T>G | CA387461359 | GJB2 | c.337A>C (p.Ser113Arg) | |
13 | g.20189245T= | CA2077139475 | GJB2 | c.337A= (p.Ser113=) | |
13 | g.20189246_20189249del | CA2575364820 | GJB2 | c.334_337del (p.Lys112ValfsTer?) | |
13 | g.20189246C>A | CA387461362 | GJB2 | c.336G>T (p.Lys112Asn) | dbSNP |
13 | g.20189246C= | CA2077139479 | GJB2 | c.336G= (p.Lys112=) | |
13 | g.20189246C>G | CA387461363 | GJB2 | c.336G>C (p.Lys112Asn) | |
13 | g.20189246C>T | CA483154015 | GJB2 | c.336G>A (p.Lys112=) | dbSNP |