| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189463G>A | CA387461910 | GJB2 | c.119C>T (p.Ala40Val) | |
| 13 | g.20189463G>C | CA274135 | GJB2 | c.119C>G (p.Ala40Gly) | ClinVar dbSNP |
| 13 | g.20189463G= | CA2077140332 | GJB2 | c.119C= (p.Ala40=) | |
| 13 | g.20189463G>T | CA261635 | GJB2 | c.119C>A (p.Ala40Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189464C>A | CA387461913 | GJB2 | c.118G>T (p.Ala40Ser) | |
| 13 | g.20189464C= | CA2077140336 | GJB2 | c.118G= (p.Ala40=) | |
| 13 | g.20189464C>G | CA387461916 | GJB2 | c.118G>C (p.Ala40Pro) | |
| 13 | g.20189464C>T | CA6904316 | GJB2 | c.118G>A (p.Ala40Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189465A>C | CA483153892 | GJB2 | c.117T>G (p.Ala39=) | |
| 13 | g.20189465A>G | CA483153893 | GJB2 | c.117T>C (p.Ala39=) | |
| 13 | g.20189465A>T | CA483153894 | GJB2 | c.117T>A (p.Ala39=) | |
| 13 | g.20189466G>A | CA387461917 | GJB2 | c.116C>T (p.Ala39Val) | |
| 13 | g.20189466G>C | CA387461918 | GJB2 | c.116C>G (p.Ala39Gly) | |
| 13 | g.20189466G>T | CA387461920 | GJB2 | c.116C>A (p.Ala39Asp) | |
| 13 | g.20189467C>A | CA387461922 | GJB2 | c.115G>T (p.Ala39Ser) | |
| 13 | g.20189467C>G | CA387461924 | GJB2 | c.115G>C (p.Ala39Pro) | |
| 13 | g.20189467C>T | CA387461925 | GJB2 | c.115G>A (p.Ala39Thr) | |
| 13 | g.20189468C>A | CA483153896 | GJB2 | c.114G>T (p.Val38=) | |
| 13 | g.20189468C>G | CA483153897 | GJB2 | c.114G>C (p.Val38=) | |
| 13 | g.20189468C>T | CA483153898 | GJB2 | c.114G>A (p.Val38=) | ClinVar |
| 13 | g.20189468_20189471delinsCACA | CA2077140339 | GJB2 | c.111_114delinsTGTG (p.Val37=) | |
| 13 | g.20189469A>C | CA387461927 | GJB2 | c.113T>G (p.Val38Gly) | |
| 13 | g.20189469A>G | CA387461929 | GJB2 | c.113T>C (p.Val38Ala) | |
| 13 | g.20189469A>T | CA387461931 | GJB2 | c.113T>A (p.Val38Glu) | |
| 13 | g.20189471_20189473del | CA1139663003 | GJB2 | c.111_113del (p.Val38del) | ClinVar dbSNP |
| 13 | g.20189470C>A | CA387461933 | GJB2 | c.112G>T (p.Val38Leu) | |
| 13 | g.20189470C>G | CA387461934 | GJB2 | c.112G>C (p.Val38Leu) | gnomAD v4 |
| 13 | g.20189470C>T | CA387461936 | GJB2 | c.112G>A (p.Val38Met) | |
| 13 | g.20189471A>C | CA483153902 | GJB2 | c.111T>G (p.Val37=) | |
| 13 | g.20189471A>G | CA483153901 | GJB2 | c.111T>C (p.Val37=) | |
| 13 | g.20189471A>T | CA483153899 | GJB2 | c.111T>A (p.Val37=) | |
| 13 | g.20189472A= | CA2077140347 | GJB2 | c.110T= (p.Val37=) | |
| 13 | g.20189472A>C | CA387461940 | GJB2 | c.110T>G (p.Val37Gly) | |
| 13 | g.20189472A>G | CA6904317 | GJB2 | c.110T>C (p.Val37Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189472A>T | CA387461938 | GJB2 | c.110T>A (p.Val37Asp) | |
| 13 | g.20189473C>A | CA273605 | GJB2 | c.109G>T (p.Val37Phe) | ClinVar dbSNP |
| 13 | g.20189473C= | CA2077140354 | GJB2 | c.109G= (p.Val37=) | |
| 13 | g.20189473C>G | CA387461942 | GJB2 | c.109G>C (p.Val37Leu) | |
| 13 | g.20189473C>T | CA172210 | GJB2 | c.109G>A (p.Val37Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189473dup | CA2695217725 | GJB2 | c.109dup (p.Val37GlyfsTer11) | |
| 13 | g.20189474G>A | CA6904318 | GJB2 | c.108C>T (p.Leu36=) | ClinVar dbSNP ExAC gnomAD v4 |
| 13 | g.20189474G>C | CA246460895 | GJB2 | c.108C>G (p.Leu36=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189474G= | CA2077140363 | GJB2 | c.108C= (p.Leu36=) | |
| 13 | g.20189474G>T | CA483153905 | GJB2 | c.108C>A (p.Leu36=) | gnomAD v4 |
| 13 | g.20189475A= | CA2077140370 | GJB2 | c.107T= (p.Leu36=) | |
| 13 | g.20189475A>C | CA387461945 | GJB2 | c.107T>G (p.Leu36Arg) | |
| 13 | g.20189475A>G | CA172208 | GJB2 | c.107T>C (p.Leu36Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189475A>T | CA387461947 | GJB2 | c.107T>A (p.Leu36His) | |
| 13 | g.20189476G>A | CA387461950 | GJB2 | c.106C>T (p.Leu36Phe) | COSMIC |
| 13 | g.20189476G>C | CA387461952 | GJB2 | c.106C>G (p.Leu36Val) |