| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88715687_88715698dup | CA2241246775 | PIEZO1 | c.7477_7488dup (p.Glu2496_Glu2497insLeuGluLeuGlu) n.2536_2547dup c.309_320dup c.1043_1054dup (p.Gly351_Gly352insAlaGlyAlaGly) c.1284_1295dup (n.1284_1295dup) n.2113_2124dup n.441_452dup | dbSNP |
| 16 | g.88715693_88715698del | CA8231306 | PIEZO1 | c.7483_7488del (p.Leu2495_Glu2496del) n.2542_2547del c.315_320del c.1049_1054del (p.Ala350_Gly351del) c.1290_1295del (n.1290_1295del) n.2119_2124del n.447_452del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88715693_88715698dup | CA211291 | PIEZO1 | c.7483_7488dup (p.Glu2496_Glu2497insLeuGlu) n.2542_2547dup c.315_320dup c.1049_1054dup (p.Gly351_Gly352insAlaGly) c.1290_1295dup (n.1290_1295dup) n.2119_2124dup n.447_452dup | ClinVar dbSNP |