| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.86809827C>T | CA2997134 | PTPN13,SLC10A6 | c.7142C>T (p.Thr2381Ile) c.6569C>T (p.Thr2190Ile) c.7085C>T (p.Thr2362Ile) c.7157C>T (p.Thr2386Ile) c.7160C>T (p.Thr2387Ile) c.1038+13957G>A (n.1038+13957G>A) c.7226C>T (p.Thr2409Ile) c.7211C>T (p.Thr2404Ile) c.7208C>T (p.Thr2403Ile) c.7175C>T (p.Thr2392Ile) c.7169C>T (p.Thr2390Ile) c.7127C>T (p.Thr2376Ile) c.7103C>T (p.Thr2368Ile) c.6665C>T (p.Thr2222Ile) c.6653C>T (p.Thr2218Ile) c.6587C>T (p.Thr2196Ile) c.7193C>T (p.Thr2398Ile) c.7151C>T (p.Thr2384Ile) c.7136C>T (p.Thr2379Ile) c.7100C>T (p.Thr2367Ile) c.6647C>T (p.Thr2216Ile) c.6635C>T (p.Thr2212Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.86809827C>A | CA2997135 | PTPN13,SLC10A6 | c.7142C>A (p.Thr2381Lys) c.6569C>A (p.Thr2190Lys) c.7085C>A (p.Thr2362Lys) c.7157C>A (p.Thr2386Lys) c.7160C>A (p.Thr2387Lys) c.1038+13957G>T (n.1038+13957G>T) c.7226C>A (p.Thr2409Lys) c.7211C>A (p.Thr2404Lys) c.7208C>A (p.Thr2403Lys) c.7175C>A (p.Thr2392Lys) c.7169C>A (p.Thr2390Lys) c.7127C>A (p.Thr2376Lys) c.7103C>A (p.Thr2368Lys) c.6665C>A (p.Thr2222Lys) c.6653C>A (p.Thr2218Lys) c.6587C>A (p.Thr2196Lys) c.7193C>A (p.Thr2398Lys) c.7151C>A (p.Thr2384Lys) c.7136C>A (p.Thr2379Lys) c.7100C>A (p.Thr2367Lys) c.6647C>A (p.Thr2216Lys) c.6635C>A (p.Thr2212Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |