| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.8811660T>C | CA273927 | PMM2 | n.3638T>C c.470T>C (p.Phe157Ser) c.*88T>C (n.*88T>C) c.*92T>C (n.*92T>C) c.*10T>C (n.*10T>C) c.*366T>C (n.*366T>C) c.*192T>C (n.*192T>C) c.437T>C c.*268T>C (n.*268T>C) c.389T>C (p.Phe130Ser) c.197T>C (p.Phe66Ser) c.201T>C (p.Val67=) c.221T>C (p.Phe74Ser) c.95T>C (p.Phe32Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.8811660T>G | CA394696947 | PMM2 | n.3638T>G c.470T>G (p.Phe157Cys) c.*88T>G (n.*88T>G) c.*92T>G (n.*92T>G) c.*10T>G (n.*10T>G) c.*366T>G (n.*366T>G) c.*192T>G (n.*192T>G) c.437T>G c.*268T>G (n.*268T>G) c.389T>G (p.Phe130Cys) c.197T>G (p.Phe66Cys) c.201T>G (p.Val67=) c.221T>G (p.Phe74Cys) c.95T>G (p.Phe32Cys) | ClinVar dbSNP |
| 16 | g.8811660T= | CA2206135999 | PMM2 | n.3638T= c.470T= (p.Phe157=) c.*88T= (n.*88T=) c.*92T= (n.*92T=) c.*10T= (n.*10T=) c.*366T= (n.*366T=) c.*192T= (n.*192T=) c.437T= c.*268T= (n.*268T=) c.389T= (p.Phe130=) c.197T= (p.Phe66=) c.201T= (p.Val67=) c.221T= (p.Phe74=) c.95T= (p.Phe32=) | dbSNP |