Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.33114352_33114424del | CA2664934103 | CRTAP | c.275_347del (p.Pro92ArgfsTer?) | gnomAD v4 |
3 | g.33114355_33114370dup | CA72699539 | CRTAP | c.278_293dup (p.Gly99AlafsTer?) | ClinVar dbSNP gnomAD v4 |
3 | g.33114353_33114364del | CA2664934104 | CRTAP | c.276_287del (p.Gln93_Pro96del) | gnomAD v4 |
3 | g.33114364_33114393dup | CA1356029746 | CRTAP | c.287_316dup (p.Glu105_Leu106insProAlaAlaGlyLeuAlaSerTyrProGlu) | dbSNP |
3 | g.33114363C>A | CA352008542 | CRTAP | c.286C>A (p.Pro96Thr) | gnomAD v4 |
3 | g.33114363C= | CA1356029751 | CRTAP | c.286C= (p.Pro96=) | |
3 | g.33114363C>G | CA352008543 | CRTAP | c.286C>G (p.Pro96Ala) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.33114363C>T | CA352008544 | CRTAP | c.286C>T (p.Pro96Ser) | gnomAD v4 |
3 | g.33114364C>A | CA352008545 | CRTAP | c.287C>A (p.Pro96His) | gnomAD v4 |
3 | g.33114364C= | CA1356029752 | CRTAP | c.287C= (p.Pro96=) | |
3 | g.33114364C>G | CA352008546 | CRTAP | c.287C>G (p.Pro96Arg) | dbSNP |
3 | g.33114364C>T | CA352008547 | CRTAP | c.287C>T (p.Pro96Leu) | gnomAD v4 |
3 | g.33114365C>A | CA433063582 | CRTAP | c.288C>A (p.Pro96=) | gnomAD v4 |
3 | g.33114365C= | CA1356029753 | CRTAP | c.288C= (p.Pro96=) | |
3 | g.33114365C>G | CA433063581 | CRTAP | c.288C>G (p.Pro96=) | |
3 | g.33114365C>T | CA433063583 | CRTAP | c.288C>T (p.Pro96=) | ClinVar dbSNP gnomAD v4 |
3 | g.33114366G>A | CA352008549 | CRTAP | c.289G>A (p.Ala97Thr) | gnomAD v4 |
3 | g.33114366G>C | CA2300240 | CRTAP | c.289G>C (p.Ala97Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114366G= | CA1356029754 | CRTAP | c.289G= (p.Ala97=) | |
3 | g.33114366G>T | CA352008548 | CRTAP | c.289G>T (p.Ala97Ser) | gnomAD v4 |
3 | g.33114367C>A | CA352008550 | CRTAP | c.290C>A (p.Ala97Asp) | gnomAD v4 |
3 | g.33114367C>G | CA352008551 | CRTAP | c.290C>G (p.Ala97Gly) | |
3 | g.33114367C>T | CA352008552 | CRTAP | c.290C>T (p.Ala97Val) | gnomAD v4 |
3 | g.33114368C>A | CA433063589 | CRTAP | c.291C>A (p.Ala97=) | gnomAD v4 |
3 | g.33114368C>G | CA433063590 | CRTAP | c.291C>G (p.Ala97=) | |
3 | g.33114368C>T | CA433063591 | CRTAP | c.291C>T (p.Ala97=) | ClinVar gnomAD v4 |
3 | g.33114369G>A | CA352008553 | CRTAP | c.292G>A (p.Ala98Thr) | gnomAD v4 |
3 | g.33114369G>C | CA352008554 | CRTAP | c.292G>C (p.Ala98Pro) | gnomAD v4 |
3 | g.33114369G>T | CA352008555 | CRTAP | c.292G>T (p.Ala98Ser) | gnomAD v4 |
3 | g.33114370C>A | CA352008556 | CRTAP | c.293C>A (p.Ala98Asp) | |
3 | g.33114370C= | CA1356029755 | CRTAP | c.293C= (p.Ala98=) | |
3 | g.33114370C>G | CA352008557 | CRTAP | c.293C>G (p.Ala98Gly) | |
3 | g.33114370C>T | CA2300241 | CRTAP | c.293C>T (p.Ala98Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.33114371C>A | CA433063598 | CRTAP | c.294C>A (p.Ala98=) | gnomAD v4 |
3 | g.33114371C= | CA1356029756 | CRTAP | c.294C= (p.Ala98=) | |
3 | g.33114371C>G | CA433063599 | CRTAP | c.294C>G (p.Ala98=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.33114371C>T | CA433063600 | CRTAP | c.294C>T (p.Ala98=) | gnomAD v4 |
3 | g.33114372G>A | CA352008558 | CRTAP | c.295G>A (p.Gly99Ser) | gnomAD v4 |
3 | g.33114372G>C | CA352008559 | CRTAP | c.295G>C (p.Gly99Arg) | dbSNP |
3 | g.33114372G= | CA1356029757 | CRTAP | c.295G= (p.Gly99=) | |
3 | g.33114372G>T | CA2300242 | CRTAP | c.295G>T (p.Gly99Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114373G>A | CA352008562 | CRTAP | c.296G>A (p.Gly99Asp) | gnomAD v4 |
3 | g.33114373G>C | CA352008561 | CRTAP | c.296G>C (p.Gly99Ala) | gnomAD v4 |
3 | g.33114373G>T | CA352008560 | CRTAP | c.296G>T (p.Gly99Val) | gnomAD v4 |
3 | g.33114374C>A | CA433063605 | CRTAP | c.297C>A (p.Gly99=) | gnomAD v4 |
3 | g.33114374C>G | CA433063608 | CRTAP | c.297C>G (p.Gly99=) | |
3 | g.33114374C>T | CA433063610 | CRTAP | c.297C>T (p.Gly99=) | gnomAD v4 |
3 | g.33114375C>A | CA352008563 | CRTAP | c.298C>A (p.Leu100Ile) | gnomAD v4 |
3 | g.33114375C>G | CA352008564 | CRTAP | c.298C>G (p.Leu100Val) | |
3 | g.33114375C>T | CA352008565 | CRTAP | c.298C>T (p.Leu100Phe) | gnomAD v4 |