| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189363G>A | CA184094 | GJB2 | c.219C>T (p.His73=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189363G>C | CA387461595 | GJB2 | c.219C>G (p.His73Gln) | |
| 13 | g.20189363G= | CA2077139972 | GJB2 | c.219C= (p.His73=) | |
| 13 | g.20189363G>T | CA387461596 | GJB2 | c.219C>A (p.His73Gln) | |
| 13 | g.20189364T>A | CA387461597 | GJB2 | c.218A>T (p.His73Leu) | |
| 13 | g.20189364T>C | CA127036 | GJB2 | c.218A>G (p.His73Arg) | ClinVar dbSNP |
| 13 | g.20189364T>G | CA387461598 | GJB2 | c.218A>C (p.His73Pro) | |
| 13 | g.20189364T= | CA2077139977 | GJB2 | c.218A= (p.His73=) | |
| 13 | g.20189364dup | CA2622252303 | GJB2 | c.218dup (p.His73GlnfsTer29) | gnomAD v4 |
| 13 | g.20189365G>A | CA387461599 | GJB2 | c.217C>T (p.His73Tyr) | dbSNP gnomAD v4 |
| 13 | g.20189365G>C | CA387461600 | GJB2 | c.217C>G (p.His73Asp) | |
| 13 | g.20189365G= | CA2077139982 | GJB2 | c.217C= (p.His73=) | |
| 13 | g.20189365G>T | CA387461601 | GJB2 | c.217C>A (p.His73Asn) | gnomAD v4 |
| 13 | g.20189365_20189366insCTAT | CA608984145 | GJB2 | c.216_217insATAG (p.His73IlefsTer30) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189366G>A | CA483153802 | GJB2 | c.216C>T (p.Ser72=) | |
| 13 | g.20189366G>C | CA483153803 | GJB2 | c.216C>G (p.Ser72=) | |
| 13 | g.20189366G>T | CA483153804 | GJB2 | c.216C>A (p.Ser72=) | |
| 13 | g.20189367G>A | CA387461604 | GJB2 | c.215C>T (p.Ser72Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189367G>C | CA387461603 | GJB2 | c.215C>G (p.Ser72Cys) | |
| 13 | g.20189367G= | CA2077139988 | GJB2 | c.215C= (p.Ser72=) | |
| 13 | g.20189367G>T | CA387461602 | GJB2 | c.215C>A (p.Ser72Tyr) | |
| 13 | g.20189368A>C | CA387461605 | GJB2 | c.214T>G (p.Ser72Ala) | |
| 13 | g.20189368A>G | CA387461606 | GJB2 | c.214T>C (p.Ser72Pro) | |
| 13 | g.20189368A>T | CA387461607 | GJB2 | c.214T>A (p.Ser72Thr) | |
| 13 | g.20189369G>A | CA483153805 | GJB2 | c.213C>T (p.Ile71=) | COSMIC |
| 13 | g.20189369G>C | CA387461608 | GJB2 | c.213C>G (p.Ile71Met) | |
| 13 | g.20189369G>T | CA483153806 | GJB2 | c.213C>A (p.Ile71=) | |
| 13 | g.20189370A= | CA2077139991 | GJB2 | c.212T= (p.Ile71=) | |
| 13 | g.20189370A>C | CA387461609 | GJB2 | c.212T>G (p.Ile71Ser) | |
| 13 | g.20189370A>G | CA387461610 | GJB2 | c.212T>C (p.Ile71Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189370A>T | CA387461611 | GJB2 | c.212T>A (p.Ile71Asn) | gnomAD v3 gnomAD v4 |
| 13 | g.20189371_20189377dup | CA2695217715 | GJB2 | c.206_212dup (p.Ser72ProfsTer32) | ClinVar |
| 13 | g.20189371T>A | CA387461612 | GJB2 | c.211A>T (p.Ile71Phe) | |
| 13 | g.20189371T>C | CA387461613 | GJB2 | c.211A>G (p.Ile71Val) | |
| 13 | g.20189371T>G | CA387461614 | GJB2 | c.211A>C (p.Ile71Leu) | |
| 13 | g.20189372G>A | CA483153807 | GJB2 | c.210C>T (p.Pro70=) | gnomAD v4 |
| 13 | g.20189372G>C | CA483153808 | GJB2 | c.210C>G (p.Pro70=) | |
| 13 | g.20189372G>T | CA483153809 | GJB2 | c.210C>A (p.Pro70=) | |
| 13 | g.20189375del | CA2542172164 | GJB2 | c.210del (p.Ile71SerfsTer11) | |
| 13 | g.20189373G>A | CA387461615 | GJB2 | c.209C>T (p.Pro70Leu) | |
| 13 | g.20189373G>C | CA387461616 | GJB2 | c.209C>G (p.Pro70Arg) | gnomAD v4 |
| 13 | g.20189373G>T | CA387461617 | GJB2 | c.209C>A (p.Pro70His) | |
| 13 | g.20189373_20189374insCATGAGAATCGTTTGAACCTAGGAGGC | CA953781931 | GJB2 | c.208_209insGCCTCCTAGGTTCAAACGATTCTCATG (p.Pro70delinsArgLeuLeuGlySerAsnAspSerHisAla) | gnomAD v3 gnomAD v4 |
| 13 | g.20189374G>A | CA387461619 | GJB2 | c.208C>T (p.Pro70Ser) | COSMIC |
| 13 | g.20189374G>C | CA273831 | GJB2 | c.208C>G (p.Pro70Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189374G= | CA2077139993 | GJB2 | c.208C= (p.Pro70=) | |
| 13 | g.20189374G>T | CA387461618 | GJB2 | c.208C>A (p.Pro70Thr) | |
| 13 | g.20189375G>A | CA483153810 | GJB2 | c.207C>T (p.Phe69=) | ClinVar |
| 13 | g.20189375G>C | CA387461621 | GJB2 | c.207C>G (p.Phe69Leu) | ClinVar |
| 13 | g.20189375G>T | CA387461620 | GJB2 | c.207C>A (p.Phe69Leu) |