| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38712340C>T | CA145439 | SCN10A | c.3910G>A (p.Ala1304Thr) c.3907G>A (p.Ala1303Thr) c.3934G>A (p.Ala1312Thr) c.3616G>A (p.Ala1206Thr) c.3919G>A (p.Ala1307Thr) c.3916G>A (p.Ala1306Thr) c.3625G>A (p.Ala1209Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38712340C>A | CA2320072 | SCN10A | c.3910G>T (p.Ala1304Ser) c.3907G>T (p.Ala1303Ser) c.3934G>T (p.Ala1312Ser) c.3616G>T (p.Ala1206Ser) c.3919G>T (p.Ala1307Ser) c.3916G>T (p.Ala1306Ser) c.3625G>T (p.Ala1209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38712340C>G | CA352151194 | SCN10A | c.3910G>C (p.Ala1304Pro) c.3907G>C (p.Ala1303Pro) c.3934G>C (p.Ala1312Pro) c.3616G>C (p.Ala1206Pro) c.3919G>C (p.Ala1307Pro) c.3916G>C (p.Ala1306Pro) c.3625G>C (p.Ala1209Pro) | dbSNP |
| 3 | g.38712340C= | CA1358633369 | SCN10A | c.3910G= (p.Ala1304=) c.3907G= (p.Ala1303=) c.3934G= (p.Ala1312=) c.3616G= (p.Ala1206=) c.3919G= (p.Ala1307=) c.3916G= (p.Ala1306=) c.3625G= (p.Ala1209=) | dbSNP |