| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.69951882C>G | CA213179 | MITF | c.885C>G (p.Asn295Lys) c.882C>G (p.Asn294Lys) n.1107C>G c.858C>G (p.Asn286Lys) c.951C>G (p.Asn317Lys) c.630C>G (p.Asn210Lys) c.930C>G (p.Asn310Lys) c.933C>G (p.Asn311Lys) c.612C>G (p.Asn204Lys) c.903C>G (p.Asn301Lys) c.777C>G (p.Asn259Lys) c.*277C>G (n.*277C>G) c.444C>G (p.Asn148Lys) c.795C>G (p.Asn265Lys) c.948C>G (p.Asn316Lys) c.900C>G (p.Asn300Lys) c.783C>G (p.Asn261Lys) c.765C>G (p.Asn255Lys) | ClinVar dbSNP |
| 3 | g.69951882C>T | CA434306300 | MITF | c.885C>T (p.Asn295=) c.882C>T (p.Asn294=) n.1107C>T c.858C>T (p.Asn286=) c.951C>T (p.Asn317=) c.630C>T (p.Asn210=) c.930C>T (p.Asn310=) c.933C>T (p.Asn311=) c.612C>T (p.Asn204=) c.903C>T (p.Asn301=) c.777C>T (p.Asn259=) c.*277C>T (n.*277C>T) c.444C>T (p.Asn148=) c.795C>T (p.Asn265=) c.948C>T (p.Asn316=) c.900C>T (p.Asn300=) c.783C>T (p.Asn261=) c.765C>T (p.Asn255=) | dbSNP |