| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.31028454A>G | CA489358423 | TRPM1 | c.3123T>C (p.Tyr1041=) c.3105T>C (p.Tyr1035=) c.3222T>C (p.Tyr1074=) c.567T>C (p.Tyr189=) c.3171T>C (p.Tyr1057=) n.546T>C n.394T>C c.2874T>C (p.Tyr958=) c.450T>C (p.Tyr150=) c.2747T>C (n.2747T>C) n.260+1343A>G n.89+1343A>G n.88+1343A>G n.278+1343A>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.31028454A>T | CA118065 | TRPM1 | c.3123T>A (p.Tyr1041Ter) c.3105T>A (p.Tyr1035Ter) c.3222T>A (p.Tyr1074Ter) c.567T>A (p.Tyr189Ter) c.3171T>A (p.Tyr1057Ter) n.546T>A n.394T>A c.2874T>A (p.Tyr958Ter) c.450T>A (p.Tyr150Ter) c.2747T>A (n.2747T>A) n.260+1343A>T n.89+1343A>T n.88+1343A>T n.278+1343A>T | ClinVar dbSNP gnomAD v4 |