Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.3595796A= | CA2318945856 | TBXA2R | c.924T= (p.Tyr308=) c.535T= (p.Tyr179=) | |
19 | g.3595796A>C | CA403330552 | TBXA2R | c.924T>G (p.Tyr308Ter) c.535T>G (p.Tyr179Asp) | |
19 | g.3595796A>G | CA9080740 | TBXA2R | c.924T>C (p.Tyr308=) c.535T>C (p.Tyr179His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.3595796A>T | CA403330554 | TBXA2R | c.924T>A (p.Tyr308Ter) c.535T>A (p.Tyr179Asn) | |
19 | g.3595796_3595797insCACCCAGGGGTCCACCTGGAACCAGATCCTGGACCCCTGCGGAACAGGATG | CA992743728 | TBXA2R | c.923_924insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Tyr308_Ile309insIleLeuPheArgArgGlyProGlySerGlySerArgTrpThrProGlyCys) c.534_535insCATCCTGTTCCGCAGGGGTCCAGGATCTGGTTCCAGGTGGACCCCTGGGTG (p.Val178_Tyr179insHisProValProGlnGlySerArgIleTrpPheGlnValAspProTrpVal) | gnomAD v3 gnomAD v4 |
19 | g.3595797T>A | CA403330558 | TBXA2R | c.923A>T (p.Tyr308Phe) c.534A>T (p.Val178=) | |
19 | g.3595797T>C | CA403330555 | TBXA2R | c.923A>G (p.Tyr308Cys) c.534A>G (p.Val178=) | |
19 | g.3595797T>G | CA403330556 | TBXA2R | c.923A>C (p.Tyr308Ser) c.534A>C (p.Val178=) | |
19 | g.3595798A>C | CA403330559 | TBXA2R | c.922T>G (p.Tyr308Asp) c.533T>G (p.Val178Gly) | |
19 | g.3595798A>G | CA403330560 | TBXA2R | c.922T>C (p.Tyr308His) c.533T>C (p.Val178Ala) | |
19 | g.3595798A>T | CA403330562 | TBXA2R | c.922T>A (p.Tyr308Asn) c.533T>A (p.Val178Glu) | |
19 | g.3595799C>A | CA403330563 | TBXA2R | c.921G>T (p.Val307=) c.532G>T (p.Val178Leu) | |
19 | g.3595799C>G | CA403330565 | TBXA2R | c.921G>C (p.Val307=) c.532G>C (p.Val178Leu) | |
19 | g.3595799C>T | CA403330567 | TBXA2R | c.921G>A (p.Val307=) c.532G>A (p.Val178Ile) | |
19 | g.3595800A>C | CA403330573 | TBXA2R | c.920T>G (p.Val307Gly) c.531T>G (p.Gly177=) | gnomAD v4 |
19 | g.3595800A>G | CA403330571 | TBXA2R | c.920T>C (p.Val307Ala) c.531T>C (p.Gly177=) | |
19 | g.3595800A>T | CA403330570 | TBXA2R | c.920T>A (p.Val307Glu) c.531T>A (p.Gly177=) | |
19 | g.3595801C>A | CA403330574 | TBXA2R | c.919G>T (p.Val307Leu) c.530G>T (p.Gly177Val) | |
19 | g.3595801C= | CA2318945857 | TBXA2R | c.919G= (p.Val307=) c.530G= (p.Gly177=) | |
19 | g.3595801C>G | CA403330575 | TBXA2R | c.919G>C (p.Val307Leu) c.530G>C (p.Gly177Ala) | dbSNP |
19 | g.3595801C>T | CA403330576 | TBXA2R | c.919G>A (p.Val307Met) c.530G>A (p.Gly177Asp) | dbSNP gnomAD v4 |
19 | g.3595802C>A | CA403330578 | TBXA2R | c.918G>T (p.Trp306Cys) c.529G>T (p.Gly177Cys) | |
19 | g.3595802C= | CA2318945858 | TBXA2R | c.918G= (p.Trp306=) c.529G= (p.Gly177=) | |
19 | g.3595802C>G | CA403330580 | TBXA2R | c.918G>C (p.Trp306Cys) c.529G>C (p.Gly177Arg) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595802C>T | CA403330582 | TBXA2R | c.918G>A (p.Trp306Ter) c.529G>A (p.Gly177Ser) | dbSNP gnomAD v4 |
19 | g.3595803C>A | CA403330584 | TBXA2R | c.917G>T (p.Trp306Leu) c.528G>T (p.Leu176=) | |
19 | g.3595803C>G | CA403330587 | TBXA2R | c.917G>C (p.Trp306Ser) c.528G>C (p.Leu176=) | |
19 | g.3595803C>T | CA403330586 | TBXA2R | c.917G>A (p.Trp306Ter) c.528G>A (p.Leu176=) | ClinVar gnomAD v4 |
19 | g.3595804A>C | CA403330589 | TBXA2R | c.916T>G (p.Trp306Gly) c.527T>G (p.Leu176Arg) | |
19 | g.3595804A>G | CA403330590 | TBXA2R | c.916T>C (p.Trp306Arg) c.527T>C (p.Leu176Pro) | |
19 | g.3595804A>T | CA403330592 | TBXA2R | c.916T>A (p.Trp306Arg) c.527T>A (p.Leu176Gln) | gnomAD v4 |
19 | g.3595805G>A | CA505155054 | TBXA2R | c.915C>T (p.Pro305=) c.526C>T (p.Leu176=) | |
19 | g.3595805G>C | CA403330593 | TBXA2R | c.915C>G (p.Pro305=) c.526C>G (p.Leu176Val) | |
19 | g.3595805G>T | CA403330594 | TBXA2R | c.915C>A (p.Pro305=) c.526C>A (p.Leu176Met) | gnomAD v4 |
19 | g.3595806G>A | CA9080741 | TBXA2R | c.914C>T (p.Pro305Leu) c.525C>T (p.Pro175=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.3595806G>C | CA403330603 | TBXA2R | c.914C>G (p.Pro305Arg) c.525C>G (p.Pro175=) | |
19 | g.3595806G= | CA2318945859 | TBXA2R | c.914C= (p.Pro305=) c.525C= (p.Pro175=) | |
19 | g.3595806G>T | CA403330604 | TBXA2R | c.914C>A (p.Pro305His) c.525C>A (p.Pro175=) | |
19 | g.3595807G>A | CA403330608 | TBXA2R | c.913C>T (p.Pro305Ser) c.524C>T (p.Pro175Leu) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.3595807G>C | CA403330609 | TBXA2R | c.913C>G (p.Pro305Ala) c.524C>G (p.Pro175Arg) | |
19 | g.3595807G= | CA2318945860 | TBXA2R | c.913C= (p.Pro305=) c.524C= (p.Pro175=) | |
19 | g.3595807G>T | CA403330612 | TBXA2R | c.913C>A (p.Pro305Thr) c.524C>A (p.Pro175His) | |
19 | g.3595808G>A | CA403330622 | TBXA2R | c.912C>T (p.Asp304=) c.523C>T (p.Pro175Ser) | |
19 | g.3595808G>C | CA403330616 | TBXA2R | c.912C>G (p.Asp304Glu) c.523C>G (p.Pro175Ala) | gnomAD v4 |
19 | g.3595808G>T | CA403330620 | TBXA2R | c.912C>A (p.Asp304Glu) c.523C>A (p.Pro175Thr) | |
19 | g.3595809T>A | CA403330625 | TBXA2R | c.911A>T (p.Asp304Val) c.522A>T (p.Gly174=) | |
19 | g.3595809T>C | CA403330626 | TBXA2R | c.911A>G (p.Asp304Gly) c.522A>G (p.Gly174=) | gnomAD v4 |
19 | g.3595809T>G | CA403330627 | TBXA2R | c.911A>C (p.Asp304Ala) c.522A>C (p.Gly174=) | |
19 | g.3595810C>A | CA403330628 | TBXA2R | c.910G>T (p.Asp304Tyr) c.521G>T (p.Gly174Val) | |
19 | g.3595810C= | CA2318945861 | TBXA2R | c.910G= (p.Asp304=) c.521G= (p.Gly174=) |