| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20188389G= | CA2077138100 | GJB2 | c.*512C= (n.*512C=) | |
| 13 | g.20188389G>T | CA246459286 | GJB2 | c.*512C>A (n.*512C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188390T>C | CA608562938 | GJB2 | c.*511A>G (n.*511A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188390T= | CA2077138102 | GJB2 | c.*511A= (n.*511A=) | |
| 13 | g.20188393C>A | CA2622251554 | GJB2 | c.*508G>T (n.*508G>T) | gnomAD v4 |
| 13 | g.20188393C= | CA2077138104 | GJB2 | c.*508G= (n.*508G=) | |
| 13 | g.20188393C>T | CA246459292 | GJB2 | c.*508G>A (n.*508G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188393_20188395delinsCAG | CA2077138103 | GJB2 | c.*506_*508delinsCTG (n.*506_*508delinsCTG) | |
| 13 | g.20188396_20188397del | CA919221210 | GJB2 | c.*506_*507del (n.*506_*507del) | dbSNP |
| 13 | g.20188395G>T | CA2622251555 | GJB2 | c.*506C>A (n.*506C>A) | gnomAD v4 |
| 13 | g.20188396A= | CA2077138107 | GJB2 | c.*505T= (n.*505T=) | |
| 13 | g.20188396A>T | CA246459296 | GJB2 | c.*505T>A (n.*505T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188397G>T | CA2622251556 | GJB2 | c.*504C>A (n.*504C>A) | gnomAD v4 |
| 13 | g.20188398T>C | CA246459306 | GJB2 | c.*503A>G (n.*503A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188398T>G | CA2622251557 | GJB2 | c.*503A>C (n.*503A>C) | gnomAD v4 |
| 13 | g.20188398T= | CA2077138110 | GJB2 | c.*503A= (n.*503A=) | |
| 13 | g.20188400T>G | CA953781255 | GJB2 | c.*501A>C (n.*501A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188400T= | CA2077138113 | GJB2 | c.*501A= (n.*501A=) | |
| 13 | g.20188401A= | CA2077138114 | GJB2 | c.*500T= (n.*500T=) | |
| 13 | g.20188401A>C | CA246459309 | GJB2 | c.*500T>G (n.*500T>G) | dbSNP |
| 13 | g.20188404G>A | CA246459312 | GJB2 | c.*497C>T (n.*497C>T) | dbSNP |
| 13 | g.20188404G= | CA2077138116 | GJB2 | c.*497C= (n.*497C=) | |
| 13 | g.20188405C>A | CA2622251558 | GJB2 | c.*496G>T (n.*496G>T) | gnomAD v4 |
| 13 | g.20188405C>T | CA2622251559 | GJB2 | c.*496G>A (n.*496G>A) | gnomAD v4 |
| 13 | g.20188407C>A | CA2622251560 | GJB2 | c.*494G>T (n.*494G>T) | gnomAD v4 |
| 13 | g.20188407C= | CA2077138118 | GJB2 | c.*494G= (n.*494G=) | |
| 13 | g.20188407C>G | CA246459314 | GJB2 | c.*494G>C (n.*494G>C) | dbSNP |
| 13 | g.20188408dup | CA2077138120 | GJB2 | c.*493dup (n.*493dup) | dbSNP |
| 13 | g.20188410G>C | CA2622251561 | GJB2 | c.*491C>G (n.*491C>G) | gnomAD v4 |
| 13 | g.20188412A>C | CA2622251562 | GJB2 | c.*489T>G (n.*489T>G) | gnomAD v4 |
| 13 | g.20188413A= | CA2077138121 | GJB2 | c.*488T= (n.*488T=) | |
| 13 | g.20188413A>C | CA953781259 | GJB2 | c.*488T>G (n.*488T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188417T>C | CA2077138124 | GJB2 | c.*484A>G (n.*484A>G) | dbSNP |
| 13 | g.20188417T= | CA2077138122 | GJB2 | c.*484A= (n.*484A=) | |
| 13 | g.20188418G= | CA2077138126 | GJB2 | c.*483C= (n.*483C=) | |
| 13 | g.20188418G>T | CA2077138127 | GJB2 | c.*483C>A (n.*483C>A) | dbSNP gnomAD v4 |
| 13 | g.20188419T>C | CA10642990 | GJB2 | c.*482A>G (n.*482A>G) | ClinVar dbSNP |
| 13 | g.20188419T= | CA2077138133 | GJB2 | c.*482A= (n.*482A=) | |
| 13 | g.20188420C>A | CA2622251563 | GJB2 | c.*481G>T (n.*481G>T) | gnomAD v4 |
| 13 | g.20188420C>T | CA2622251564 | GJB2 | c.*481G>A (n.*481G>A) | gnomAD v4 |
| 13 | g.20188420_20188421del | CA2559429181 | GJB2 | c.*480_*481del (n.*480_*481del) | |
| 13 | g.20188421C>A | CA2622251565 | GJB2 | c.*480G>T (n.*480G>T) | gnomAD v4 |
| 13 | g.20188423_20188424del | CA2511230080 | GJB2 | c.*477_*478del (n.*477_*478del) | |
| 13 | g.20188424T>C | CA2622251566 | GJB2 | c.*477A>G (n.*477A>G) | gnomAD v4 |
| 13 | g.20188426T>C | CA953781261 | GJB2 | c.*475A>G (n.*475A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188426T= | CA2077138137 | GJB2 | c.*475A= (n.*475A=) | |
| 13 | g.20188428dup | CA2510723370 | GJB2 | c.*473dup (n.*473dup) | |
| 13 | g.20188429G>T | CA2526691644 | GJB2 | c.*472C>A (n.*472C>A) | |
| 13 | g.20188432A= | CA2077138139 | GJB2 | c.*469T= (n.*469T=) | |
| 13 | g.20188432A>T | CA608562939 | GJB2 | c.*469T>A (n.*469T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |