| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7122658G>T | CA124257 | INSR | c.3485C>A (p.Ala1162Glu) c.3449C>A (p.Ala1150Glu) n.331C>A n.396C>A c.3560C>A (p.Ala1187Glu) c.3524C>A (p.Ala1175Glu) c.3482C>A (p.Ala1161Glu) c.3446C>A (p.Ala1149Glu) | ClinVar dbSNP |
| 19 | g.7122658G>A | CA403670207 | INSR | c.3485C>T (p.Ala1162Val) c.3449C>T (p.Ala1150Val) n.331C>T n.396C>T c.3560C>T (p.Ala1187Val) c.3524C>T (p.Ala1175Val) c.3482C>T (p.Ala1161Val) c.3446C>T (p.Ala1149Val) | ClinVar dbSNP gnomAD v4 |
| 19 | g.7122658G= | CA2320766378 | INSR | c.3485C= (p.Ala1162=) c.3449C= (p.Ala1150=) n.331C= n.396C= c.3560C= (p.Ala1187=) c.3524C= (p.Ala1175=) c.3482C= (p.Ala1161=) c.3446C= (p.Ala1149=) | dbSNP |