Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.135028924_135028959delinsGGAGTGCCGTACGGGCAAGCGCCCGGCGACATGGCC | CA1584338948 | PITX1 | c.765_800delinsGGCCATGTCGCCGGGCGCTTGCCCGTACGGCACTCC (p.Ser255=) | |
5 | g.135028929_135028963del | CA213051 | PITX1 | c.765_799del (p.Ala256ArgfsTer?) | ClinVar dbSNP |
5 | g.135028936G>A | CA128009332 | PITX1 | c.788C>T (p.Pro263Leu) | ClinVar dbSNP gnomAD v4 |
5 | g.135028936G>C | CA3417547 | PITX1 | c.788C>G (p.Pro263Arg) | dbSNP ExAC gnomAD v4 |
5 | g.135028936G= | CA1584338980 | PITX1 | c.788C= (p.Pro263=) | |
5 | g.135028936G>T | CA361027507 | PITX1 | c.788C>A (p.Pro263Gln) | |
5 | g.135028937G>A | CA361027508 | PITX1 | c.787C>T (p.Pro263Ser) | |
5 | g.135028937G>C | CA361027509 | PITX1 | c.787C>G (p.Pro263Ala) | |
5 | g.135028937G>T | CA361027510 | PITX1 | c.787C>A (p.Pro263Thr) | |
5 | g.135028938_135028939insGCGG | CA2675353694 | PITX1 | c.787_788insGCCC (p.Pro263ArgfsTer?) | gnomAD v4 |
5 | g.135028938G>A | CA446784013 | PITX1 | c.786C>T (p.Cys262=) | |
5 | g.135028938G>C | CA361027511 | PITX1 | c.786C>G (p.Cys262Trp) | |
5 | g.135028938G>T | CA361027512 | PITX1 | c.786C>A (p.Cys262Ter) | |
5 | g.135028939C>A | CA361027515 | PITX1 | c.785G>T (p.Cys262Phe) | |
5 | g.135028939C>G | CA361027514 | PITX1 | c.785G>C (p.Cys262Ser) | |
5 | g.135028939C>T | CA361027513 | PITX1 | c.785G>A (p.Cys262Tyr) | |
5 | g.135028940A>C | CA361027516 | PITX1 | c.784T>G (p.Cys262Gly) | gnomAD v4 |
5 | g.135028940A>G | CA361027517 | PITX1 | c.784T>C (p.Cys262Arg) | |
5 | g.135028940A>T | CA361027518 | PITX1 | c.784T>A (p.Cys262Ser) | |
5 | g.135028941A= | CA1584338984 | PITX1 | c.783T= (p.Ala261=) | |
5 | g.135028941A>C | CA446784036 | PITX1 | c.783T>G (p.Ala261=) | |
5 | g.135028941A>G | CA446784039 | PITX1 | c.783T>C (p.Ala261=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028941A>T | CA446784042 | PITX1 | c.783T>A (p.Ala261=) | |
5 | g.135028942G>A | CA361027519 | PITX1 | c.782C>T (p.Ala261Val) | gnomAD v4 |
5 | g.135028942G>C | CA361027520 | PITX1 | c.782C>G (p.Ala261Gly) | |
5 | g.135028942G>T | CA361027521 | PITX1 | c.782C>A (p.Ala261Asp) | |
5 | g.135028943C>A | CA361027522 | PITX1 | c.781G>T (p.Ala261Ser) | gnomAD v4 COSMIC |
5 | g.135028943C= | CA1584338987 | PITX1 | c.781G= (p.Ala261=) | |
5 | g.135028943C>G | CA361027523 | PITX1 | c.781G>C (p.Ala261Pro) | |
5 | g.135028943C>T | CA361027524 | PITX1 | c.781G>A (p.Ala261Thr) | dbSNP |
5 | g.135028944G>A | CA3417548 | PITX1 | c.780C>T (p.Gly260=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.135028944G>C | CA446784063 | PITX1 | c.780C>G (p.Gly260=) | gnomAD v4 |
5 | g.135028944G= | CA1584338990 | PITX1 | c.780C= (p.Gly260=) | |
5 | g.135028944G>T | CA446784059 | PITX1 | c.780C>A (p.Gly260=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028945C>A | CA361027525 | PITX1 | c.779G>T (p.Gly260Val) | dbSNP |
5 | g.135028945C= | CA1584338995 | PITX1 | c.779G= (p.Gly260=) | |
5 | g.135028945C>G | CA361027526 | PITX1 | c.779G>C (p.Gly260Ala) | |
5 | g.135028945C>T | CA361027527 | PITX1 | c.779G>A (p.Gly260Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028946C>A | CA361027528 | PITX1 | c.778G>T (p.Gly260Cys) | |
5 | g.135028946C= | CA1584339001 | PITX1 | c.778G= (p.Gly260=) | |
5 | g.135028946C>G | CA361027529 | PITX1 | c.778G>C (p.Gly260Arg) | gnomAD v4 |
5 | g.135028946C>T | CA128009366 | PITX1 | c.778G>A (p.Gly260Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028947C>A | CA446784074 | PITX1 | c.777G>T (p.Pro259=) | dbSNP gnomAD v2 |
5 | g.135028947C= | CA1584339006 | PITX1 | c.777G= (p.Pro259=) | |
5 | g.135028947C>G | CA446784076 | PITX1 | c.777G>C (p.Pro259=) | gnomAD v4 |
5 | g.135028947C>T | CA446784078 | PITX1 | c.777G>A (p.Pro259=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
5 | g.135028948G>A | CA361027530 | PITX1 | c.776C>T (p.Pro259Leu) | dbSNP gnomAD v4 |
5 | g.135028948G>C | CA361027532 | PITX1 | c.776C>G (p.Pro259Arg) | |
5 | g.135028948G= | CA1584339011 | PITX1 | c.776C= (p.Pro259=) | |
5 | g.135028948G>T | CA361027531 | PITX1 | c.776C>A (p.Pro259Gln) |