Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.33114461C>A | CA433063829 | CRTAP | c.384C>A (p.Ala128=) | |
3 | g.33114461C= | CA1356029814 | CRTAP | c.384C= (p.Ala128=) | |
3 | g.33114461C>G | CA433063822 | CRTAP | c.384C>G (p.Ala128=) | |
3 | g.33114461C>T | CA433063825 | CRTAP | c.384C>T (p.Ala128=) | dbSNP gnomAD v4 |
3 | g.33114462T>A | CA352008739 | CRTAP | c.385T>A (p.Phe129Ile) | |
3 | g.33114462T>C | CA352008740 | CRTAP | c.385T>C (p.Phe129Leu) | gnomAD v4 |
3 | g.33114462T>G | CA352008741 | CRTAP | c.385T>G (p.Phe129Val) | |
3 | g.33114463T>A | CA352008742 | CRTAP | c.386T>A (p.Phe129Tyr) | ClinVar gnomAD v4 |
3 | g.33114463T>C | CA352008743 | CRTAP | c.386T>C (p.Phe129Ser) | gnomAD v4 |
3 | g.33114463T>G | CA352008744 | CRTAP | c.386T>G (p.Phe129Cys) | |
3 | g.33114464C>A | CA352008745 | CRTAP | c.387C>A (p.Phe129Leu) | gnomAD v4 |
3 | g.33114464C= | CA1356029815 | CRTAP | c.387C= (p.Phe129=) | |
3 | g.33114464C>G | CA352008746 | CRTAP | c.387C>G (p.Phe129Leu) | ClinVar dbSNP |
3 | g.33114464C>T | CA2300259 | CRTAP | c.387C>T (p.Phe129=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.33114465C>A | CA352008747 | CRTAP | c.388C>A (p.Arg130Ser) | dbSNP gnomAD v4 |
3 | g.33114465C= | CA1356029816 | CRTAP | c.388C= (p.Arg130=) | |
3 | g.33114465C>G | CA352008748 | CRTAP | c.388C>G (p.Arg130Gly) | dbSNP |
3 | g.33114465C>T | CA72699689 | CRTAP | c.388C>T (p.Arg130Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.33114466G>A | CA352008749 | CRTAP | c.389G>A (p.Arg130His) | dbSNP gnomAD v4 |
3 | g.33114466G>C | CA352008750 | CRTAP | c.389G>C (p.Arg130Pro) | |
3 | g.33114466G= | CA1356029817 | CRTAP | c.389G= (p.Arg130=) | |
3 | g.33114466G>T | CA352008751 | CRTAP | c.389G>T (p.Arg130Leu) | gnomAD v4 |
3 | g.33114467C>A | CA433063852 | CRTAP | c.390C>A (p.Arg130=) | |
3 | g.33114467C>G | CA433063853 | CRTAP | c.390C>G (p.Arg130=) | |
3 | g.33114467C>T | CA433063859 | CRTAP | c.390C>T (p.Arg130=) | gnomAD v4 |
3 | g.33114468C>A | CA352008752 | CRTAP | c.391C>A (p.Gln131Lys) | gnomAD v4 |
3 | g.33114468C= | CA1356029818 | CRTAP | c.391C= (p.Gln131=) | |
3 | g.33114468C>G | CA352008753 | CRTAP | c.391C>G (p.Gln131Glu) | |
3 | g.33114468C>T | CA352008754 | CRTAP | c.391C>T (p.Gln131Ter) | dbSNP gnomAD v2 |
3 | g.33114469A= | CA1356029819 | CRTAP | c.392A= (p.Gln131=) | |
3 | g.33114469A>C | CA352008756 | CRTAP | c.392A>C (p.Gln131Pro) | |
3 | g.33114469A>G | CA72699690 | CRTAP | c.392A>G (p.Gln131Arg) | dbSNP gnomAD v4 |
3 | g.33114469A>T | CA352008755 | CRTAP | c.392A>T (p.Gln131Leu) | |
3 | g.33114470G>A | CA433063867 | CRTAP | c.393G>A (p.Gln131=) | gnomAD v4 |
3 | g.33114470G>C | CA352008757 | CRTAP | c.393G>C (p.Gln131His) | |
3 | g.33114470G>T | CA352008758 | CRTAP | c.393G>T (p.Gln131His) | gnomAD v4 |
3 | g.33114471T>A | CA352008759 | CRTAP | c.394T>A (p.Ser132Thr) | |
3 | g.33114471T>C | CA352008760 | CRTAP | c.394T>C (p.Ser132Pro) | |
3 | g.33114471T>G | CA352008761 | CRTAP | c.394T>G (p.Ser132Ala) | |
3 | g.33114472C>A | CA352008762 | CRTAP | c.395C>A (p.Ser132Tyr) | |
3 | g.33114472C>G | CA352008764 | CRTAP | c.395C>G (p.Ser132Cys) | |
3 | g.33114472C>T | CA352008763 | CRTAP | c.395C>T (p.Ser132Phe) | gnomAD v4 |
3 | g.33114473C>A | CA433063882 | CRTAP | c.396C>A (p.Ser132=) | gnomAD v4 |
3 | g.33114473C= | CA1356029820 | CRTAP | c.396C= (p.Ser132=) | |
3 | g.33114473C>G | CA433063883 | CRTAP | c.396C>G (p.Ser132=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.33114473C>T | CA433063885 | CRTAP | c.396C>T (p.Ser132=) | ClinVar |
3 | g.33114474C>A | CA352008765 | CRTAP | c.397C>A (p.Gln133Lys) | gnomAD v4 |
3 | g.33114474C>G | CA352008767 | CRTAP | c.397C>G (p.Gln133Glu) | gnomAD v4 |
3 | g.33114474C>T | CA352008766 | CRTAP | c.397C>T (p.Gln133Ter) | gnomAD v4 |
3 | g.33114475A= | CA1356029821 | CRTAP | c.398A= (p.Gln133=) |