X | g.54470722del | CA10425253 | FGD1 | c.527del (p.Pro176HisfsTer?)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
X | g.54470722_54470723insGGGGGGGGCTCGAGGGGGGGGGG | CA1133232686 | FGD1 | c.527_528insCCTCGAGCCCCCCCCCCCCCCCC (p.Ile180ProfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
X | g.54470722dup | CA202352 | FGD1 | c.527dup (p.Leu177ThrfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.54470722_54470723insGTGGGGCCCCTGGGGGGGGGG | CA2693845684 | FGD1 | c.527_528insCCAGGGGCCCCACCCCCCCCC (p.Pro176_Leu177insGlnGlyProHisProProPro)
| dbSNP gnomAD v4 |
X | g.54470722_54470723insGGGGGGGAGGGGCTCCGGGGGGGGGGG | CA920413355 | FGD1 | c.527_528insCCCGGAGCCCCTCCCCCCCCCCCCCCC (p.Pro176_Leu177insProGluProLeuProProProProPro)
| dbSNP |
X | g.54470722_54470723insGAGGGGCCCCAGGGGGGGGGG | CA2693845692 | FGD1 | c.527_528insCCTGGGGCCCCTCCCCCCCCC (p.Pro176_Leu177insLeuGlyProLeuProProPro)
| dbSNP gnomAD v4 |
X | g.54470721_54470722del | CA2430190390 | FGD1 | c.526_527del (p.Pro176ThrfsTer?)
| dbSNP gnomAD v4 |