| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189341G>A | CA6904299 | GJB2 | c.241C>T (p.Leu81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189341G>C | CA6904298 | GJB2 | c.241C>G (p.Leu81Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189341G= | CA2077139795 | GJB2 | c.241C= (p.Leu81=) | |
| 13 | g.20189341G>T | CA387461557 | GJB2 | c.241C>A (p.Leu81Met) | |
| 13 | g.20189342C>A | CA387461558 | GJB2 | c.240G>T (p.Gln80His) | |
| 13 | g.20189342C= | CA2077139802 | GJB2 | c.240G= (p.Gln80=) | |
| 13 | g.20189342C>G | CA387461559 | GJB2 | c.240G>C (p.Gln80His) | |
| 13 | g.20189342C>T | CA483153785 | GJB2 | c.240G>A (p.Gln80=) | |
| 13 | g.20189342dup | CA912980097 | GJB2 | c.240dup (p.Leu81AlafsTer21) | |
| 13 | g.20189343T>A | CA387461560 | GJB2 | c.239A>T (p.Gln80Leu) | |
| 13 | g.20189343T>C | CA387461561 | GJB2 | c.239A>G (p.Gln80Arg) | |
| 13 | g.20189343T>G | CA273446 | GJB2 | c.239A>C (p.Gln80Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189343T= | CA2077139891 | GJB2 | c.239A= (p.Gln80=) | |
| 13 | g.20189343dup | CA658823472 | GJB2 | c.239dup (p.Leu81AlafsTer21) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189343_20189346delinsCGGATCT | CA2695217713 | GJB2 | c.236_239delinsAGATCCG (p.Leu79_Gln80delinsGlnIleArg) | |
| 13 | g.20189344G>A | CA6904300 | GJB2 | c.238C>T (p.Gln80Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189344G>C | CA387461562 | GJB2 | c.238C>G (p.Gln80Glu) | |
| 13 | g.20189344G= | CA2077139898 | GJB2 | c.238C= (p.Gln80=) | |
| 13 | g.20189344G>T | CA387461563 | GJB2 | c.238C>A (p.Gln80Lys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189345C>A | CA483153786 | GJB2 | c.237G>T (p.Leu79=) | |
| 13 | g.20189345C>G | CA483153787 | GJB2 | c.237G>C (p.Leu79=) | ClinVar |
| 13 | g.20189345C>T | CA483153788 | GJB2 | c.237G>A (p.Leu79=) | gnomAD v4 COSMIC |
| 13 | g.20189346A= | CA2077139904 | GJB2 | c.236T= (p.Leu79=) | |
| 13 | g.20189346A>C | CA387461565 | GJB2 | c.236T>G (p.Leu79Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189346A>G | CA387461566 | GJB2 | c.236T>C (p.Leu79Pro) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189346A>T | CA387461564 | GJB2 | c.236T>A (p.Leu79Gln) | |
| 13 | g.20189346_20189347delinsAG | CA2077139903 | GJB2 | c.235_236delinsCT (p.Leu79=) | |
| 13 | g.20189347G>A | CA483153789 | GJB2 | c.235C>T (p.Leu79=) | |
| 13 | g.20189347G>C | CA387461568 | GJB2 | c.235C>G (p.Leu79Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189347G= | CA2077139914 | GJB2 | c.235C= (p.Leu79=) | |
| 13 | g.20189347G>T | CA387461567 | GJB2 | c.235C>A (p.Leu79Met) | |
| 13 | g.20189349dup | CA912980098 | GJB2 | c.235dup (p.Leu79ProfsTer23) | |
| 13 | g.20189349del | CA127025 | GJB2 | c.235del (p.Leu79CysfsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189348G>A | CA483153792 | GJB2 | c.234C>T (p.Ala78=) | gnomAD v4 |
| 13 | g.20189348G>C | CA483153790 | GJB2 | c.234C>G (p.Ala78=) | |
| 13 | g.20189348G>T | CA483153791 | GJB2 | c.234C>A (p.Ala78=) | |
| 13 | g.20189349G>A | CA387461569 | GJB2 | c.233C>T (p.Ala78Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189349G>C | CA387461570 | GJB2 | c.233C>G (p.Ala78Gly) | |
| 13 | g.20189349G= | CA2077139917 | GJB2 | c.233C= (p.Ala78=) | |
| 13 | g.20189349G>T | CA387461571 | GJB2 | c.233C>A (p.Ala78Asp) | ClinVar dbSNP |
| 13 | g.20189350C>A | CA387461572 | GJB2 | c.232G>T (p.Ala78Ser) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189350C= | CA2077139924 | GJB2 | c.232G= (p.Ala78=) | |
| 13 | g.20189350C>G | CA387461573 | GJB2 | c.232G>C (p.Ala78Pro) | |
| 13 | g.20189350C>T | CA387461574 | GJB2 | c.232G>A (p.Ala78Thr) | ClinVar dbSNP |
| 13 | g.20189352dup | CA658823475 | GJB2 | c.232dup (p.Ala78GlyfsTer24) | ClinVar dbSNP |
| 13 | g.20189351C>A | CA387461575 | GJB2 | c.231G>T (p.Trp77Cys) | |
| 13 | g.20189351C= | CA2077139933 | GJB2 | c.231G= (p.Trp77=) | |
| 13 | g.20189351C>G | CA387461576 | GJB2 | c.231G>C (p.Trp77Cys) | |
| 13 | g.20189351C>T | CA341437 | GJB2 | c.231G>A (p.Trp77Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189352C>A | CA387461577 | GJB2 | c.230G>T (p.Trp77Leu) |