| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| 13 | g.20189246_20189248delinsCTT | CA2077139478 | GJB2 | c.334_336delinsAAG (p.Lys112=) | |
| 13 | g.20189247T>A | CA387461364 | GJB2 | c.335A>T (p.Lys112Met) | |
| 13 | g.20189247T>C | CA387461365 | GJB2 | c.335A>G (p.Lys112Arg) | |
| 13 | g.20189247T>G | CA387461366 | GJB2 | c.335A>C (p.Lys112Thr) | |
| 13 | g.20189248_20189249del | CA274322 | GJB2 | c.334_335del (p.Lys112GlufsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189248T>A | CA387461367 | GJB2 | c.334A>T (p.Lys112Ter) | |
| 13 | g.20189248T>C | CA387461368 | GJB2 | c.334A>G (p.Lys112Glu) | |
| 13 | g.20189248T>G | CA387461369 | GJB2 | c.334A>C (p.Lys112Gln) | |
| 13 | g.20189249T>A | CA483154016 | GJB2 | c.333A>T (p.Ile111=) | |
| 13 | g.20189249T>C | CA387461370 | GJB2 | c.333A>G (p.Ile111Met) | gnomAD v4 |
| 13 | g.20189249T>G | CA483154017 | GJB2 | c.333A>C (p.Ile111=) | |
| 13 | g.20189250A= | CA2077139482 | GJB2 | c.332T= (p.Ile111=) | |
| 13 | g.20189250A>C | CA387461371 | GJB2 | c.332T>G (p.Ile111Arg) | |
| 13 | g.20189250A>G | CA387461372 | GJB2 | c.332T>C (p.Ile111Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189250A>T | CA387461373 | GJB2 | c.332T>A (p.Ile111Lys) | |
| 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) |