| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.7141764G>A | CA9135505 | INSR | c.2595C>T (p.Asn865=) c.2559C>T (p.Asn853=) n.278C>T c.2673C>T (p.Asn891=) c.2637C>T (p.Asn879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.7141764G>C | CA403661884 | INSR | c.2595C>G (p.Asn865Lys) c.2559C>G (p.Asn853Lys) n.278C>G c.2673C>G (p.Asn891Lys) c.2637C>G (p.Asn879Lys) | dbSNP |
| 19 | g.7141764G>T | CA403661886 | INSR | c.2595C>A (p.Asn865Lys) c.2559C>A (p.Asn853Lys) n.278C>A c.2673C>A (p.Asn891Lys) c.2637C>A (p.Asn879Lys) | dbSNP |
| 19 | g.7141764G= | CA2320775579 | INSR | c.2595C= (p.Asn865=) c.2559C= (p.Asn853=) n.278C= c.2673C= (p.Asn891=) c.2637C= (p.Asn879=) | dbSNP |