| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.95210754C>A | CA7019781 | ABCC4 | c.*592G>T (n.*592G>T) c.559G>T (p.Gly187Trp) c.700G>T (n.700G>T) n.842G>T c.*605G>T (n.*605G>T) n.655G>T c.598G>T (p.Gly200Trp) c.334G>T (p.Gly112Trp) c.430G>T (p.Gly144Trp) c.10G>T (p.Gly4Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.95210754C= | CA2112127316 | ABCC4 | c.*592G= (n.*592G=) c.559G= (p.Gly187=) c.700G= (n.700G=) n.842G= c.*605G= (n.*605G=) n.655G= c.598G= (p.Gly200=) c.334G= (p.Gly112=) c.430G= (p.Gly144=) c.10G= (p.Gly4=) | dbSNP |
| 13 | g.95210754C>G | CA388396557 | ABCC4 | c.*592G>C (n.*592G>C) c.559G>C (p.Gly187Arg) c.700G>C (n.700G>C) n.842G>C c.*605G>C (n.*605G>C) n.655G>C c.598G>C (p.Gly200Arg) c.334G>C (p.Gly112Arg) c.430G>C (p.Gly144Arg) c.10G>C (p.Gly4Arg) | dbSNP |
| 13 | g.95210754C>T | CA388396554 | ABCC4 | c.*592G>A (n.*592G>A) c.559G>A (p.Gly187Arg) c.700G>A (n.700G>A) n.842G>A c.*605G>A (n.*605G>A) n.655G>A c.598G>A (p.Gly200Arg) c.334G>A (p.Gly112Arg) c.430G>A (p.Gly144Arg) c.10G>A (p.Gly4Arg) | dbSNP |