| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20188968A>C | CA387460795 | GJB2 | c.614T>G (p.Leu205Arg) | |
| 13 | g.20188968A>G | CA387460796 | GJB2 | c.614T>C (p.Leu205Pro) | |
| 13 | g.20188968A>T | CA387460797 | GJB2 | c.614T>A (p.Leu205Gln) | |
| 13 | g.20188969G>A | CA483154276 | GJB2 | c.613C>T (p.Leu205=) | |
| 13 | g.20188969G>C | CA387460798 | GJB2 | c.613C>G (p.Leu205Val) | |
| 13 | g.20188969G>T | CA387460799 | GJB2 | c.613C>A (p.Leu205Met) | |
| 13 | g.20188970C>A | CA6904223 | GJB2 | c.612G>T (p.Leu204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20188970C= | CA2077138715 | GJB2 | c.612G= (p.Leu204=) | |
| 13 | g.20188970C>G | CA483154278 | GJB2 | c.612G>C (p.Leu204=) | |
| 13 | g.20188970C>T | CA483154280 | GJB2 | c.612G>A (p.Leu204=) | |
| 13 | g.20188971A>C | CA387460800 | GJB2 | c.611T>G (p.Leu204Arg) | |
| 13 | g.20188971A>G | CA387460801 | GJB2 | c.611T>C (p.Leu204Pro) | |
| 13 | g.20188971A>T | CA387460802 | GJB2 | c.611T>A (p.Leu204Gln) | |
| 13 | g.20188972G>A | CA483154281 | GJB2 | c.610C>T (p.Leu204=) | |
| 13 | g.20188972G>C | CA387460803 | GJB2 | c.610C>G (p.Leu204Val) | |
| 13 | g.20188972G>T | CA387460804 | GJB2 | c.610C>A (p.Leu204Met) | |
| 13 | g.20188973G>A | CA483154282 | GJB2 | c.609C>T (p.Ile203=) | ClinVar dbSNP |
| 13 | g.20188973G>C | CA387460805 | GJB2 | c.609C>G (p.Ile203Met) | dbSNP gnomAD v4 |
| 13 | g.20188973G= | CA2077138716 | GJB2 | c.609C= (p.Ile203=) | |
| 13 | g.20188973G>T | CA483154283 | GJB2 | c.609C>A (p.Ile203=) | gnomAD v4 |
| 13 | g.20188973_20188974delinsTT | CA1139532487 | GJB2 | c.608_609delinsAA (p.Ile203Lys) | |
| 13 | g.20188974A= | CA2077138719 | GJB2 | c.608T= (p.Ile203=) | |
| 13 | g.20188974A>C | CA387460806 | GJB2 | c.608T>G (p.Ile203Ser) | |
| 13 | g.20188974A>G | CA134991 | GJB2 | c.608T>C (p.Ile203Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188974A>T | CA387460807 | GJB2 | c.608T>A (p.Ile203Asn) | gnomAD v4 |
| 13 | g.20188975T>A | CA387460808 | GJB2 | c.607A>T (p.Ile203Phe) | |
| 13 | g.20188975T>C | CA387460809 | GJB2 | c.607A>G (p.Ile203Val) | |
| 13 | g.20188975T>G | CA387460810 | GJB2 | c.607A>C (p.Ile203Leu) | ClinVar gnomAD v4 |
| 13 | g.20188976G>A | CA483154284 | GJB2 | c.606C>T (p.Cys202=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188976G>C | CA387460811 | GJB2 | c.606C>G (p.Cys202Trp) | |
| 13 | g.20188976G= | CA2077138722 | GJB2 | c.606C= (p.Cys202=) | |
| 13 | g.20188976G>T | CA387460812 | GJB2 | c.606C>A (p.Cys202Ter) | |
| 13 | g.20188977C>A | CA257678 | GJB2 | c.605G>T (p.Cys202Phe) | ClinVar dbSNP |
| 13 | g.20188977C= | CA2077138729 | GJB2 | c.605G= (p.Cys202=) | |
| 13 | g.20188977C>G | CA387460813 | GJB2 | c.605G>C (p.Cys202Ser) | |
| 13 | g.20188977C>T | CA387460814 | GJB2 | c.605G>A (p.Cys202Tyr) | |
| 13 | g.20188978_20189023dup | CA913191089 | GJB2 | c.560_605dup (p.Cys202Ter) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20188978A= | CA2077138734 | GJB2 | c.604T= (p.Cys202=) | |
| 13 | g.20188978A>C | CA387460815 | GJB2 | c.604T>G (p.Cys202Gly) | |
| 13 | g.20188978A>G | CA387460816 | GJB2 | c.604T>C (p.Cys202Arg) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20188978A>T | CA387460817 | GJB2 | c.604T>A (p.Cys202Ser) | |
| 13 | g.20188979A= | CA2077138737 | GJB2 | c.603T= (p.Ile201=) | |
| 13 | g.20188979A>C | CA6904224 | GJB2 | c.603T>G (p.Ile201Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20188979A>G | CA483154285 | GJB2 | c.603T>C (p.Ile201=) | |
| 13 | g.20188979A>T | CA483154286 | GJB2 | c.603T>A (p.Ile201=) | |
| 13 | g.20188980A>C | CA387460820 | GJB2 | c.602T>G (p.Ile201Ser) | |
| 13 | g.20188980A>G | CA387460819 | GJB2 | c.602T>C (p.Ile201Thr) | |
| 13 | g.20188980A>T | CA387460818 | GJB2 | c.602T>A (p.Ile201Asn) | |
| 13 | g.20188981T>A | CA387460821 | GJB2 | c.601A>T (p.Ile201Phe) | |
| 13 | g.20188981T>C | CA387460822 | GJB2 | c.601A>G (p.Ile201Val) |