Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38722372G>C | CA2320246 | SCN10A | c.3393C>G (p.Thr1131=) c.3390C>G (p.Thr1130=) c.3417C>G (p.Thr1139=) c.3099C>G (p.Thr1033=) c.3402C>G (p.Thr1134=) c.3399C>G (p.Thr1133=) c.3108C>G (p.Thr1036=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38722372G>T | CA433137960 | SCN10A | c.3393C>A (p.Thr1131=) c.3390C>A (p.Thr1130=) c.3417C>A (p.Thr1139=) c.3099C>A (p.Thr1033=) c.3402C>A (p.Thr1134=) c.3399C>A (p.Thr1133=) c.3108C>A (p.Thr1036=) | dbSNP gnomAD v4 |