| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.6425489G>A | CA203312 | AIPL1 | c.1126C>T (p.Pro376Ser) c.937C>T (p.Pro313Ser) c.*998C>T (n.*998C>T) c.1060C>T (p.Pro354Ser) c.251+8430C>T c.1090C>T (p.Pro364Ser) c.*1097C>T (n.*1097C>T) c.946C>T (p.Pro316Ser) c.1054C>T (p.Pro352Ser) c.*144C>T (n.*144C>T) c.1009C>T (p.Pro337Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425489G>C | CA397394213 | AIPL1 | c.1126C>G (p.Pro376Ala) c.937C>G (p.Pro313Ala) c.*998C>G (n.*998C>G) c.1060C>G (p.Pro354Ala) c.251+8430C>G c.1090C>G (p.Pro364Ala) c.*1097C>G (n.*1097C>G) c.946C>G (p.Pro316Ala) c.1054C>G (p.Pro352Ala) c.*144C>G (n.*144C>G) c.1009C>G (p.Pro337Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.6425489G= | CA2245346518 | AIPL1 | c.1126C= (p.Pro376=) c.937C= (p.Pro313=) c.*998C= (n.*998C=) c.1060C= (p.Pro354=) c.251+8430C= c.1090C= (p.Pro364=) c.*1097C= (n.*1097C=) c.946C= (p.Pro316=) c.1054C= (p.Pro352=) c.*144C= (n.*144C=) c.1009C= (p.Pro337=) | dbSNP |