Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.119342984dup | CA116878 | C1QTNF5,MFRP | c.1150dup (p.His384ProfsTer8) c.924dup (p.Thr309HisfsTer?) c.-1487dup (n.-1487dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.119342982_119342984del | CA602181610 | C1QTNF5,MFRP | c.1148_1150del (p.Pro383del) c.922_924del (p.Pro308del) c.-1489_-1487del (n.-1489_-1487del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.119342984del | CA6320223 | C1QTNF5,MFRP | c.1150del (p.His384ThrfsTer?) c.924del (p.Thr309ProfsTer7) c.-1487del (n.-1487del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |