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.33114356G>A | CA433063568 | CRTAP | c.279G>A (p.Gln93=) | ClinVar gnomAD v4 |
3 | g.33114356G>C | CA352008528 | CRTAP | c.279G>C (p.Gln93His) | gnomAD v4 |
3 | g.33114356G= | CA1356029745 | CRTAP | c.279G= (p.Gln93=) | |
3 | g.33114356G>T | CA352008529 | CRTAP | c.279G>T (p.Gln93His) | gnomAD v4 |
3 | g.33114357C>A | CA352008530 | CRTAP | c.280C>A (p.Pro94Thr) | gnomAD v4 |
3 | g.33114357C>G | CA352008531 | CRTAP | c.280C>G (p.Pro94Ala) | |
3 | g.33114357C>T | CA352008532 | CRTAP | c.280C>T (p.Pro94Ser) | ClinVar gnomAD v4 |
3 | g.33114364_33114393dup | CA1356029746 | CRTAP | c.287_316dup (p.Glu105_Leu106insProAlaAlaGlyLeuAlaSerTyrProGlu) | dbSNP |
3 | g.33114358C>A | CA352008533 | CRTAP | c.281C>A (p.Pro94His) | gnomAD v4 |
3 | g.33114358C= | CA1356029747 | CRTAP | c.281C= (p.Pro94=) | |
3 | g.33114358C>G | CA352008534 | CRTAP | c.281C>G (p.Pro94Arg) | dbSNP gnomAD v4 |
3 | g.33114358C>T | CA2300238 | CRTAP | c.281C>T (p.Pro94Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114359C>A | CA433063572 | CRTAP | c.282C>A (p.Pro94=) | gnomAD v4 |
3 | g.33114359C= | CA1356029748 | CRTAP | c.282C= (p.Pro94=) | |
3 | g.33114359C>G | CA433063570 | CRTAP | c.282C>G (p.Pro94=) | |
3 | g.33114359C>T | CA2300239 | CRTAP | c.282C>T (p.Pro94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.33114360G>A | CA72699555 | CRTAP | c.283G>A (p.Glu95Lys) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.33114360G>C | CA352008536 | CRTAP | c.283G>C (p.Glu95Gln) | |
3 | g.33114360G= | CA1356029749 | CRTAP | c.283G= (p.Glu95=) | |
3 | g.33114360G>T | CA352008535 | CRTAP | c.283G>T (p.Glu95Ter) | gnomAD v4 |
3 | g.33114361A= | CA1356029750 | CRTAP | c.284A= (p.Glu95=) | |
3 | g.33114361A>C | CA352008537 | CRTAP | c.284A>C (p.Glu95Ala) | |
3 | g.33114361A>G | CA352008538 | CRTAP | c.284A>G (p.Glu95Gly) | gnomAD v4 |
3 | g.33114361A>T | CA352008539 | CRTAP | c.284A>T (p.Glu95Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.33114362G>A | CA433063576 | CRTAP | c.285G>A (p.Glu95=) | |
3 | g.33114362G>C | CA352008540 | CRTAP | c.285G>C (p.Glu95Asp) | |
3 | g.33114362G>T | CA352008541 | CRTAP | c.285G>T (p.Glu95Asp) | gnomAD v4 |
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 |