Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.33114450G>A | CA352008718 | CRTAP | c.373G>A (p.Gly125Ser) | gnomAD v4 |
3 | g.33114450G>C | CA2300256 | CRTAP | c.373G>C (p.Gly125Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114450G= | CA1356029805 | CRTAP | c.373G= (p.Gly125=) | |
3 | g.33114450G>T | CA352008719 | CRTAP | c.373G>T (p.Gly125Cys) | gnomAD v4 |
3 | g.33114451G>A | CA352008720 | CRTAP | c.374G>A (p.Gly125Asp) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.33114451G>C | CA352008721 | CRTAP | c.374G>C (p.Gly125Ala) | |
3 | g.33114451G= | CA1356029806 | CRTAP | c.374G= (p.Gly125=) | |
3 | g.33114451G>T | CA352008722 | CRTAP | c.374G>T (p.Gly125Val) | gnomAD v4 |
3 | g.33114452C>A | CA433063792 | CRTAP | c.375C>A (p.Gly125=) | gnomAD v2 |
3 | g.33114452C= | CA1356029807 | CRTAP | c.375C= (p.Gly125=) | |
3 | g.33114452C>G | CA2300257 | CRTAP | c.375C>G (p.Gly125=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.33114452C>T | CA433063793 | CRTAP | c.375C>T (p.Gly125=) | gnomAD v4 |
3 | g.33114453C>A | CA352008723 | CRTAP | c.376C>A (p.Leu126Met) | gnomAD v4 |
3 | g.33114453C= | CA1356029808 | CRTAP | c.376C= (p.Leu126=) | |
3 | g.33114453C>G | CA352008724 | CRTAP | c.376C>G (p.Leu126Val) | gnomAD v4 |
3 | g.33114453C>T | CA2300258 | CRTAP | c.376C>T (p.Leu126=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114454T>A | CA352008725 | CRTAP | c.377T>A (p.Leu126Gln) | |
3 | g.33114454T>C | CA352008726 | CRTAP | c.377T>C (p.Leu126Pro) | gnomAD v4 |
3 | g.33114454T>G | CA352008727 | CRTAP | c.377T>G (p.Leu126Arg) | |
3 | g.33114455G>A | CA433063802 | CRTAP | c.378G>A (p.Leu126=) | dbSNP gnomAD v4 |
3 | g.33114455G>C | CA433063797 | CRTAP | c.378G>C (p.Leu126=) | |
3 | g.33114455G= | CA1356029809 | CRTAP | c.378G= (p.Leu126=) | |
3 | g.33114455G>T | CA433063799 | CRTAP | c.378G>T (p.Leu126=) | gnomAD v4 |
3 | g.33114456C>A | CA352008728 | CRTAP | c.379C>A (p.Pro127Thr) | |
3 | g.33114456C>G | CA352008729 | CRTAP | c.379C>G (p.Pro127Ala) | |
3 | g.33114456C>T | CA352008730 | CRTAP | c.379C>T (p.Pro127Ser) | gnomAD v4 |
3 | g.33114457C>A | CA72699679 | CRTAP | c.380C>A (p.Pro127Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.33114457C= | CA1356029810 | CRTAP | c.380C= (p.Pro127=) | |
3 | g.33114457C>G | CA352008731 | CRTAP | c.380C>G (p.Pro127Arg) | |
3 | g.33114457C>T | CA352008732 | CRTAP | c.380C>T (p.Pro127Leu) | |
3 | g.33114458A= | CA1356029811 | CRTAP | c.381A= (p.Pro127=) | |
3 | g.33114458A>C | CA433063808 | CRTAP | c.381A>C (p.Pro127=) | |
3 | g.33114458A>G | CA433063810 | CRTAP | c.381A>G (p.Pro127=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.33114458A>T | CA433063811 | CRTAP | c.381A>T (p.Pro127=) | |
3 | g.33114459G>A | CA352008734 | CRTAP | c.382G>A (p.Ala128Thr) | gnomAD v4 |
3 | g.33114459G>C | CA352008735 | CRTAP | c.382G>C (p.Ala128Pro) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.33114459G= | CA1356029812 | CRTAP | c.382G= (p.Ala128=) | |
3 | g.33114459G>T | CA352008733 | CRTAP | c.382G>T (p.Ala128Ser) | gnomAD v4 |
3 | g.33114460C>A | CA352008736 | CRTAP | c.383C>A (p.Ala128Asp) | |
3 | g.33114460C= | CA1356029813 | CRTAP | c.383C= (p.Ala128=) | |
3 | g.33114460C>G | CA352008737 | CRTAP | c.383C>G (p.Ala128Gly) | dbSNP |
3 | g.33114460C>T | CA352008738 | CRTAP | c.383C>T (p.Ala128Val) | dbSNP gnomAD v4 |
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) | gnomAD v4 |