Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.80172157del | CA16041758 | FAH | n.796-857del c.615del (p.Phe205LeufsTer2) n.2234-5del c.405del (p.Phe135LeufsTer2) n.543del | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
15 | g.80172157dup | CA716072041 | FAH | n.796-857dup c.615dup (p.Val206CysfsTer18) n.2234-5dup c.405dup (p.Val136CysfsTer18) n.543dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |