| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189182A= | CA2077139317 | GJB2 | c.400T= (p.Trp134=) | |
| 13 | g.20189182A>C | CA387461229 | GJB2 | c.400T>G (p.Trp134Gly) | |
| 13 | g.20189182A>G | CA10581509 | GJB2 | c.400T>C (p.Trp134Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189182A>T | CA387461230 | GJB2 | c.400T>A (p.Trp134Arg) | |
| 13 | g.20189182_20189183insGCCTC | CA2622252291 | GJB2 | c.399_400insGAGGC (p.Trp134GlufsTer?) | gnomAD v4 |
| 13 | g.20189183C>A | CA387461231 | GJB2 | c.399G>T (p.Trp133Cys) | |
| 13 | g.20189183C= | CA2077139322 | GJB2 | c.399G= (p.Trp133=) | |
| 13 | g.20189183C>G | CA387461232 | GJB2 | c.399G>C (p.Trp133Cys) | |
| 13 | g.20189183C>T | CA246460171 | GJB2 | c.399G>A (p.Trp133Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189185_20189194del | CA2695217669 | GJB2 | c.390_399del (p.Ser131GlyfsTer?) | |
| 13 | g.20189184C>A | CA387461233 | GJB2 | c.398G>T (p.Trp133Leu) | |
| 13 | g.20189184C>G | CA387461234 | GJB2 | c.398G>C (p.Trp133Ser) | |
| 13 | g.20189184C>T | CA387461235 | GJB2 | c.398G>A (p.Trp133Ter) | |
| 13 | g.20189185A>C | CA387461236 | GJB2 | c.397T>G (p.Trp133Gly) | |
| 13 | g.20189185A>G | CA387461237 | GJB2 | c.397T>C (p.Trp133Arg) | |
| 13 | g.20189185A>T | CA387461238 | GJB2 | c.397T>A (p.Trp133Arg) | |
| 13 | g.20189186C>A | CA483153981 | GJB2 | c.396G>T (p.Leu132=) | gnomAD v4 |
| 13 | g.20189186C= | CA2077139326 | GJB2 | c.396G= (p.Leu132=) | |
| 13 | g.20189186C>G | CA483153982 | GJB2 | c.396G>C (p.Leu132=) | |
| 13 | g.20189186C>T | CA6904273 | GJB2 | c.396G>A (p.Leu132=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189187A>C | CA387461239 | GJB2 | c.395T>G (p.Leu132Arg) | |
| 13 | g.20189187A>G | CA387461240 | GJB2 | c.395T>C (p.Leu132Pro) | |
| 13 | g.20189187A>T | CA387461241 | GJB2 | c.395T>A (p.Leu132Gln) | |
| 13 | g.20189188G>A | CA483153983 | GJB2 | c.394C>T (p.Leu132=) | |
| 13 | g.20189188G>C | CA387461242 | GJB2 | c.394C>G (p.Leu132Val) | |
| 13 | g.20189188G>T | CA387461243 | GJB2 | c.394C>A (p.Leu132Met) | |
| 13 | g.20189188_20189189insTGTT | CA2622252292 | GJB2 | c.393_394insAACA (p.Leu132AsnfsTer?) | gnomAD v4 |
| 13 | g.20189189G>A | CA483153984 | GJB2 | c.393C>T (p.Ser131=) | |
| 13 | g.20189189G>C | CA483153985 | GJB2 | c.393C>G (p.Ser131=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189189G= | CA2077139332 | GJB2 | c.393C= (p.Ser131=) | |
| 13 | g.20189189G>T | CA483153986 | GJB2 | c.393C>A (p.Ser131=) | |
| 13 | g.20189190G>A | CA387461244 | GJB2 | c.392C>T (p.Ser131Phe) | |
| 13 | g.20189190G>C | CA387461245 | GJB2 | c.392C>G (p.Ser131Cys) | |
| 13 | g.20189190G>T | CA387461246 | GJB2 | c.392C>A (p.Ser131Tyr) | |
| 13 | g.20189190_20189191insGATTATAGGTATA | CA2622252293 | GJB2 | c.391_392insTATACCTATAATC (p.Ser131LeufsTer4) | gnomAD v4 |
| 13 | g.20189191A>C | CA387461247 | GJB2 | c.391T>G (p.Ser131Ala) | |
| 13 | g.20189191A>G | CA387461248 | GJB2 | c.391T>C (p.Ser131Pro) | gnomAD v4 |
| 13 | g.20189191A>T | CA387461249 | GJB2 | c.391T>A (p.Ser131Thr) | |
| 13 | g.20189192G>A | CA483153987 | GJB2 | c.390C>T (p.Gly130=) | |
| 13 | g.20189192G>C | CA483153988 | GJB2 | c.390C>G (p.Gly130=) | |
| 13 | g.20189192G>T | CA483153989 | GJB2 | c.390C>A (p.Gly130=) | |
| 13 | g.20189193C>A | CA387461250 | GJB2 | c.389G>T (p.Gly130Val) | |
| 13 | g.20189193C= | CA2077139339 | GJB2 | c.389G= (p.Gly130=) | |
| 13 | g.20189193C>G | CA10576937 | GJB2 | c.389G>C (p.Gly130Ala) | ClinVar dbSNP |
| 13 | g.20189193C>T | CA6904274 | GJB2 | c.389G>A (p.Gly130Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189194C>A | CA387461251 | GJB2 | c.388G>T (p.Gly130Cys) | |
| 13 | g.20189194C>G | CA387461252 | GJB2 | c.388G>C (p.Gly130Arg) | |
| 13 | g.20189194C>T | CA387461253 | GJB2 | c.388G>A (p.Gly130Ser) | |
| 13 | g.20189195T>A | CA387461255 | GJB2 | c.387A>T (p.Glu129Asp) | |
| 13 | g.20189195T>C | CA483153990 | GJB2 | c.387A>G (p.Glu129=) | ClinVar dbSNP |