| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.148118456G>T | CA361644670 | SPINK5 | c.2132G>T (p.Arg711Leu) n.2296G>T c.2075G>T (p.Arg692Leu) c.2048G>T (p.Arg683Leu) | dbSNP |
| 5 | g.148118456G>A | CA3495877 | SPINK5 | c.2132G>A (p.Arg711Gln) n.2296G>A c.2075G>A (p.Arg692Gln) c.2048G>A (p.Arg683Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.148118456G= | CA1589897163 | SPINK5 | c.2132G= (p.Arg711=) n.2296G= c.2075G= (p.Arg692=) c.2048G= (p.Arg683=) | dbSNP |