| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.72816175C>T | CA5082049 | TMC1 | c.1728C>T (p.Asn576=) c.1290C>T (p.Asn430=) c.1257+10665C>T (n.1257+10665C>T) c.1602C>T (p.Asn534=) n.1871C>T n.209C>T n.352C>T c.2316C>T (p.Asn772=) c.1731C>T (p.Asn577=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.72816175C>G | CA373668346 | TMC1 | c.1728C>G (p.Asn576Lys) c.1290C>G (p.Asn430Lys) c.1257+10665C>G (n.1257+10665C>G) c.1602C>G (p.Asn534Lys) n.1871C>G n.209C>G n.352C>G c.2316C>G (p.Asn772Lys) c.1731C>G (p.Asn577Lys) | ClinVar dbSNP |