| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.42726386T>A | CA342452 | CDAN1 | c.3128A>T (p.Asp1043Val) c.*2259A>T (n.*2259A>T) c.1074A>T (n.1074A>T) c.3131A>T (p.Asp1044Val) c.3155A>T (p.Asp1052Val) c.3152A>T (p.Asp1051Val) c.*30A>T (n.*30A>T) c.2120A>T (p.Asp707Val) c.2372A>T (p.Asp791Val) n.3185A>T n.3138A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.42726386T>G | CA7515272 | CDAN1 | c.3128A>C (p.Asp1043Ala) c.*2259A>C (n.*2259A>C) c.1074A>C (n.1074A>C) c.3131A>C (p.Asp1044Ala) c.3155A>C (p.Asp1052Ala) c.3152A>C (p.Asp1051Ala) c.*30A>C (n.*30A>C) c.2120A>C (p.Asp707Ala) c.2372A>C (p.Asp791Ala) n.3185A>C n.3138A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.42726386T= | CA2172867525 | CDAN1 | c.3128A= (p.Asp1043=) c.*2259A= (n.*2259A=) c.1074A= (n.1074A=) c.3131A= (p.Asp1044=) c.3155A= (p.Asp1052=) c.3152A= (p.Asp1051=) c.*30A= (n.*30A=) c.2120A= (p.Asp707=) c.2372A= (p.Asp791=) n.3185A= n.3138A= | dbSNP |