| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.40396401C>T | CA220090 | PRX | c.1951G>A (p.Asp651Asn) c.1534G>A (p.Asp512Asn) c.2236G>A (p.Asp746Asn) c.1826G>A c.1812G>A c.1913G>A c.1838G>A c.*2156G>A (n.*2156G>A) c.1849G>A (p.Asp617Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396401C>G | CA405897321 | PRX | c.1951G>C (p.Asp651His) c.1534G>C (p.Asp512His) c.2236G>C (p.Asp746His) c.1826G>C c.1812G>C c.1913G>C c.1838G>C c.*2156G>C (n.*2156G>C) c.1849G>C (p.Asp617His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.40396401C>A | CA405897320 | PRX | c.1951G>T (p.Asp651Tyr) c.1534G>T (p.Asp512Tyr) c.2236G>T (p.Asp746Tyr) c.1826G>T c.1812G>T c.1913G>T c.1838G>T c.*2156G>T (n.*2156G>T) c.1849G>T (p.Asp617Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.40396401C= | CA2335961624 | PRX | c.1951G= (p.Asp651=) c.1534G= (p.Asp512=) c.2236G= (p.Asp746=) c.1826G= c.1812G= c.1913G= c.1838G= c.*2156G= (n.*2156G=) c.1849G= (p.Asp617=) | dbSNP |