| 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 |
| 3 | g.38722372G= | CA1358639189 | SCN10A | c.3393C= (p.Thr1131=) c.3390C= (p.Thr1130=) c.3417C= (p.Thr1139=) c.3099C= (p.Thr1033=) c.3402C= (p.Thr1134=) c.3399C= (p.Thr1133=) c.3108C= (p.Thr1036=) | dbSNP |
| 3 | g.38722372G>A | CA433137959 | SCN10A | c.3393C>T (p.Thr1131=) c.3390C>T (p.Thr1130=) c.3417C>T (p.Thr1139=) c.3099C>T (p.Thr1033=) c.3402C>T (p.Thr1134=) c.3399C>T (p.Thr1133=) c.3108C>T (p.Thr1036=) | ClinVar dbSNP |