| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254617G>A | CA127400 | SLC4A1 | c.1936C>T (p.Arg646Trp) c.838C>T (p.Arg280Trp) c.1741C>T (p.Arg581Trp) c.1846C>T (p.Arg616Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254617G>T | CA290928566 | SLC4A1 | c.1936C>A (p.Arg646=) c.838C>A (p.Arg280=) c.1741C>A (p.Arg581=) c.1846C>A (p.Arg616=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44254617G>C | CA399783310 | SLC4A1 | c.1936C>G (p.Arg646Gly) c.838C>G (p.Arg280Gly) c.1741C>G (p.Arg581Gly) c.1846C>G (p.Arg616Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44254617G= | CA2261308291 | SLC4A1 | c.1936C= (p.Arg646=) c.838C= (p.Arg280=) c.1741C= (p.Arg581=) c.1846C= (p.Arg616=) | dbSNP |