| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224311A>C | CA413503273 | GJB1 | c.604A>C (p.Ile202Leu) | |
| X | g.71224311A>G | CA413503274 | GJB1 | c.604A>G (p.Ile202Val) | |
| X | g.71224311A>T | CA413503275 | GJB1 | c.604A>T (p.Ile202Phe) | |
| X | g.71224312T>A | CA413503276 | GJB1 | c.605T>A (p.Ile202Asn) | ClinVar dbSNP |
| X | g.71224312T>C | CA413503277 | GJB1 | c.605T>C (p.Ile202Thr) | |
| X | g.71224312T>G | CA413503278 | GJB1 | c.605T>G (p.Ile202Ser) | |
| X | g.71224312T= | CA2436388484 | GJB1 | c.605T= (p.Ile202=) | |
| X | g.71224312_71224313delinsTC | CA2436388483 | GJB1 | c.605_606delinsTC (p.Ile202=) | |
| X | g.71224313del | CA915951215 | GJB1 | c.606del (p.Ile203SerfsTer?) | ClinVar dbSNP |
| X | g.71224313C>A | CA516820981 | GJB1 | c.606C>A (p.Ile202=) | |
| X | g.71224313C= | CA2436388485 | GJB1 | c.606C= (p.Ile202=) | |
| X | g.71224313C>G | CA413503279 | GJB1 | c.606C>G (p.Ile202Met) | |
| X | g.71224313C>T | CA516820982 | GJB1 | c.606C>T (p.Ile202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224314A>C | CA413503280 | GJB1 | c.607A>C (p.Ile203Leu) | |
| X | g.71224314A>G | CA413503281 | GJB1 | c.607A>G (p.Ile203Val) | |
| X | g.71224314A>T | CA413503282 | GJB1 | c.607A>T (p.Ile203Phe) | |
| X | g.71224315T>A | CA413503285 | GJB1 | c.608T>A (p.Ile203Asn) | ClinVar dbSNP |
| X | g.71224315T>C | CA413503284 | GJB1 | c.608T>C (p.Ile203Thr) | ClinVar dbSNP |
| X | g.71224315T>G | CA413503283 | GJB1 | c.608T>G (p.Ile203Ser) | |
| X | g.71224315T= | CA2436388486 | GJB1 | c.608T= (p.Ile203=) | |
| X | g.71224315_71224316dup | CA2695234574 | GJB1 | c.608_609dup (p.Leu204SerfsTer?) | |
| X | g.71224316C>A | CA516820987 | GJB1 | c.609C>A (p.Ile203=) | |
| X | g.71224316C= | CA2436388487 | GJB1 | c.609C= (p.Ile203=) | |
| X | g.71224316C>G | CA413503286 | GJB1 | c.609C>G (p.Ile203Met) | COSMIC |
| X | g.71224316C>T | CA516820989 | GJB1 | c.609C>T (p.Ile203=) | dbSNP |
| X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile) | ClinVar dbSNP |
| X | g.71224317C= | CA2436388488 | GJB1 | c.610C= (p.Leu204=) | |
| X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val) | ClinVar dbSNP |
| X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
| X | g.71224318T>A | CA413503289 | GJB1 | c.611T>A (p.Leu204His) | |
| X | g.71224318T>C | CA413503290 | GJB1 | c.611T>C (p.Leu204Pro) | |
| X | g.71224318T>G | CA413503291 | GJB1 | c.611T>G (p.Leu204Arg) | |
| X | g.71224319C>A | CA516820994 | GJB1 | c.612C>A (p.Leu204=) | |
| X | g.71224319C>G | CA516820993 | GJB1 | c.612C>G (p.Leu204=) | |
| X | g.71224319C>T | CA516820992 | GJB1 | c.612C>T (p.Leu204=) | |
| X | g.71224320A>C | CA413503292 | GJB1 | c.613A>C (p.Asn205His) | |
| X | g.71224320A>G | CA413503293 | GJB1 | c.613A>G (p.Asn205Asp) | |
| X | g.71224320A>T | CA413503294 | GJB1 | c.613A>T (p.Asn205Tyr) | |
| X | g.71224321A= | CA2436388489 | GJB1 | c.614A= (p.Asn205=) | |
| X | g.71224321A>C | CA413503295 | GJB1 | c.614A>C (p.Asn205Thr) | |
| X | g.71224321A>G | CA340970 | GJB1 | c.614A>G (p.Asn205Ser) | ClinVar dbSNP |
| X | g.71224321A>T | CA413503296 | GJB1 | c.614A>T (p.Asn205Ile) | ClinVar dbSNP |
| X | g.71224322T>A | CA413503297 | GJB1 | c.615T>A (p.Asn205Lys) | ClinVar dbSNP |
| X | g.71224322T>C | CA516821000 | GJB1 | c.615T>C (p.Asn205=) | dbSNP |
| X | g.71224322T>G | CA413503298 | GJB1 | c.615T>G (p.Asn205Lys) | |
| X | g.71224322T= | CA2436388490 | GJB1 | c.615T= (p.Asn205=) | |
| X | g.71224323G>A | CA413503299 | GJB1 | c.616G>A (p.Val206Met) | |
| X | g.71224323G>C | CA413503300 | GJB1 | c.616G>C (p.Val206Leu) | |
| X | g.71224323G= | CA2436388491 | GJB1 | c.616G= (p.Val206=) | |
| X | g.71224323G>T | CA413503302 | GJB1 | c.616G>T (p.Val206Leu) | gnomAD v4 |