| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.4576680T>A | CA463728605 | SLC1A1,SPATA6L | c.1110T>A (p.Thr370=) c.397T>A c.*782-22292A>T (n.*782-22292A>T) c.1179T>A (p.Thr393=) c.1119T>A (p.Thr373=) c.1050T>A (p.Thr350=) c.969T>A (p.Thr323=) c.*1+27499A>T (n.*1+27499A>T) c.1071T>A (p.Thr357=) c.1002T>A (p.Thr334=) n.1478+23973A>T | dbSNP |
| 9 | g.4576680T>C | CA4969234 | SLC1A1,SPATA6L | c.1110T>C (p.Thr370=) c.397T>C c.*782-22292A>G (n.*782-22292A>G) c.1179T>C (p.Thr393=) c.1119T>C (p.Thr373=) c.1050T>C (p.Thr350=) c.969T>C (p.Thr323=) c.*1+27499A>G (n.*1+27499A>G) c.1071T>C (p.Thr357=) c.1002T>C (p.Thr334=) n.1478+23973A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.4576680T>G | CA463728606 | SLC1A1,SPATA6L | c.1110T>G (p.Thr370=) c.397T>G c.*782-22292A>C (n.*782-22292A>C) c.1179T>G (p.Thr393=) c.1119T>G (p.Thr373=) c.1050T>G (p.Thr350=) c.969T>G (p.Thr323=) c.*1+27499A>C (n.*1+27499A>C) c.1071T>G (p.Thr357=) c.1002T>G (p.Thr334=) n.1478+23973A>C | dbSNP |