| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.44320424C>A | CA127835 | PREPL,SLC3A1 | c.1843C>A (p.Pro615Thr) c.*932G>T (n.*932G>T) c.1009C>A (p.Pro337Thr) c.736C>A (p.Pro246Thr) c.425G>T (n.425G>T) c.*1005G>T (n.*1005G>T) c.*2229C>A (n.*2229C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.44320424C>T | CA346687165 | PREPL,SLC3A1 | c.1843C>T (p.Pro615Ser) c.*932G>A (n.*932G>A) c.1009C>T (p.Pro337Ser) c.736C>T (p.Pro246Ser) c.425G>A (n.425G>A) c.*1005G>A (n.*1005G>A) c.*2229C>T (n.*2229C>T) | dbSNP gnomAD v2 COSMIC |
| 2 | g.44320424C= | CA2494221146 | PREPL,SLC3A1 | c.1843C= (p.Pro615=) c.*932G= (n.*932G=) c.1009C= (p.Pro337=) c.736C= (p.Pro246=) c.425G= (n.425G=) c.*1005G= (n.*1005G=) c.*2229C= (n.*2229C=) | dbSNP |