| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.128400120A>C | CA124382 | IMPDH1 | c.741T>G (p.Asn247Lys) n.724T>G c.849T>G (p.Asn283Lys) c.481T>G c.819T>G (p.Asn273Lys) c.750T>G (p.Asn250Lys) n.438T>G c.614T>G c.591T>G (p.Asn197Lys) c.579T>G (p.Asn193Lys) c.724T>G (n.724T>G) c.519T>G (p.Asn173Lys) c.642T>G (p.Asn214Lys) c.594T>G (p.Asn198Lys) c.618T>G (p.Asn206Lys) c.231T>G (p.Asn77Lys) | ClinVar dbSNP gnomAD v4 |
| 7 | g.128400120A>G | CA4471017 | IMPDH1 | c.741T>C (p.Asn247=) n.724T>C c.849T>C (p.Asn283=) c.481T>C c.819T>C (p.Asn273=) c.750T>C (p.Asn250=) n.438T>C c.614T>C c.591T>C (p.Asn197=) c.579T>C (p.Asn193=) c.724T>C (n.724T>C) c.519T>C (p.Asn173=) c.642T>C (p.Asn214=) c.594T>C (p.Asn198=) c.618T>C (p.Asn206=) c.231T>C (p.Asn77=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.128400120A>T | CA369171839 | IMPDH1 | c.741T>A (p.Asn247Lys) n.724T>A c.849T>A (p.Asn283Lys) c.481T>A c.819T>A (p.Asn273Lys) c.750T>A (p.Asn250Lys) n.438T>A c.614T>A c.591T>A (p.Asn197Lys) c.579T>A (p.Asn193Lys) c.724T>A (n.724T>A) c.519T>A (p.Asn173Lys) c.642T>A (p.Asn214Lys) c.594T>A (p.Asn198Lys) c.618T>A (p.Asn206Lys) c.231T>A (p.Asn77Lys) | ClinVar dbSNP |