| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189026T>A | CA387460908 | GJB2 | c.556A>T (p.Thr186Ser) | |
| 13 | g.20189026T>C | CA246459866 | GJB2 | c.556A>G (p.Thr186Ala) | dbSNP gnomAD v4 |
| 13 | g.20189026T>G | CA387460909 | GJB2 | c.556A>C (p.Thr186Pro) | |
| 13 | g.20189026T= | CA2077138895 | GJB2 | c.556A= (p.Thr186=) | |
| 13 | g.20189027G>A | CA6904239 | GJB2 | c.555C>T (p.Pro185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189027G>C | CA483153834 | GJB2 | c.555C>G (p.Pro185=) | |
| 13 | g.20189027G= | CA2077138898 | GJB2 | c.555C= (p.Pro185=) | |
| 13 | g.20189027G>T | CA483153837 | GJB2 | c.555C>A (p.Pro185=) | |
| 13 | g.20189028G>A | CA387460910 | GJB2 | c.554C>T (p.Pro185Leu) | |
| 13 | g.20189028G>C | CA387460911 | GJB2 | c.554C>G (p.Pro185Arg) | |
| 13 | g.20189028G>T | CA387460912 | GJB2 | c.554C>A (p.Pro185His) | |
| 13 | g.20189029G>A | CA387460913 | GJB2 | c.553C>T (p.Pro185Ser) | |
| 13 | g.20189029G>C | CA387460914 | GJB2 | c.553C>G (p.Pro185Ala) | |
| 13 | g.20189029G>T | CA387460915 | GJB2 | c.553C>A (p.Pro185Thr) | |
| 13 | g.20189030C>A | CA483153840 | GJB2 | c.552G>T (p.Arg184=) | |
| 13 | g.20189030C>G | CA483153841 | GJB2 | c.552G>C (p.Arg184=) | |
| 13 | g.20189030C>T | CA483153842 | GJB2 | c.552G>A (p.Arg184=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189031C>A | CA387460916 | GJB2 | c.551G>T (p.Arg184Leu) | |
| 13 | g.20189031C= | CA2077138903 | GJB2 | c.551G= (p.Arg184=) | |
| 13 | g.20189031C>G | CA341438 | GJB2 | c.551G>C (p.Arg184Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189031C>T | CA172235 | GJB2 | c.551G>A (p.Arg184Gln) | ClinVar dbSNP |
| 13 | g.20189032G>A | CA246459909 | GJB2 | c.550C>T (p.Arg184Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189032G>C | CA387460917 | GJB2 | c.550C>G (p.Arg184Gly) | |
| 13 | g.20189032G= | CA2077138906 | GJB2 | c.550C= (p.Arg184=) | |
| 13 | g.20189032G>T | CA483153843 | GJB2 | c.550C>A (p.Arg184=) | |
| 13 | g.20189033G>A | CA483153845 | GJB2 | c.549C>T (p.Ser183=) | |
| 13 | g.20189033G>C | CA483153846 | GJB2 | c.549C>G (p.Ser183=) | |
| 13 | g.20189033G>T | CA483153844 | GJB2 | c.549C>A (p.Ser183=) | |
| 13 | g.20189034G>A | CA387460920 | GJB2 | c.548C>T (p.Ser183Phe) | ClinVar |
| 13 | g.20189034G>C | CA387460919 | GJB2 | c.548C>G (p.Ser183Cys) | |
| 13 | g.20189034G>T | CA387460918 | GJB2 | c.548C>A (p.Ser183Tyr) | |
| 13 | g.20189035A>C | CA387460921 | GJB2 | c.547T>G (p.Ser183Ala) | |
| 13 | g.20189035A>G | CA387460922 | GJB2 | c.547T>C (p.Ser183Pro) | |
| 13 | g.20189035A>T | CA387460923 | GJB2 | c.547T>A (p.Ser183Thr) | |
| 13 | g.20189036C>A | CA483153850 | GJB2 | c.546G>T (p.Val182=) | ClinVar |
| 13 | g.20189036C= | CA2077138912 | GJB2 | c.546G= (p.Val182=) | |
| 13 | g.20189036C>G | CA483153851 | GJB2 | c.546G>C (p.Val182=) | |
| 13 | g.20189036C>T | CA6904240 | GJB2 | c.546G>A (p.Val182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189037A>C | CA387460924 | GJB2 | c.545T>G (p.Val182Gly) | |
| 13 | g.20189037A>G | CA387460925 | GJB2 | c.545T>C (p.Val182Ala) | |
| 13 | g.20189037A>T | CA387460926 | GJB2 | c.545T>A (p.Val182Glu) | |
| 13 | g.20189038C>A | CA387460927 | GJB2 | c.544G>T (p.Val182Leu) | |
| 13 | g.20189038C>G | CA387460928 | GJB2 | c.544G>C (p.Val182Leu) | |
| 13 | g.20189038C>T | CA387460929 | GJB2 | c.544G>A (p.Val182Met) | |
| 13 | g.20189039A= | CA2077138917 | GJB2 | c.543T= (p.Phe181=) | |
| 13 | g.20189039A>C | CA387460930 | GJB2 | c.543T>G (p.Phe181Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189039A>G | CA483153856 | GJB2 | c.543T>C (p.Phe181=) | |
| 13 | g.20189039A>T | CA387460931 | GJB2 | c.543T>A (p.Phe181Leu) | |
| 13 | g.20189040A>C | CA387460932 | GJB2 | c.542T>G (p.Phe181Cys) | |
| 13 | g.20189040A>G | CA387460934 | GJB2 | c.542T>C (p.Phe181Ser) |