| 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.135028929G>A | CA446783947 | PITX1 | c.795C>T (p.Gly265=) | |
| 5 | g.135028929G>C | CA446783950 | PITX1 | c.795C>G (p.Gly265=) | |
| 5 | g.135028929G>T | CA446783952 | PITX1 | c.795C>A (p.Gly265=) | |
| 5 | g.135028930C>A | CA361027495 | PITX1 | c.794G>T (p.Gly265Val) | gnomAD v4 |
| 5 | g.135028930C= | CA1584338958 | PITX1 | c.794G= (p.Gly265=) | |
| 5 | g.135028930C>G | CA361027496 | PITX1 | c.794G>C (p.Gly265Ala) | gnomAD v4 |
| 5 | g.135028930C>T | CA361027497 | PITX1 | c.794G>A (p.Gly265Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028931C>A | CA361027498 | PITX1 | c.793G>T (p.Gly265Cys) | ClinVar dbSNP |
| 5 | g.135028931C= | CA1584338963 | PITX1 | c.793G= (p.Gly265=) | |
| 5 | g.135028931C>G | CA3417543 | PITX1 | c.793G>C (p.Gly265Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028931C>T | CA3417544 | PITX1 | c.793G>A (p.Gly265Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135028931_135028933del | CA2675353692 | PITX1 | c.791_793del (p.Tyr264_Gly265delinsCys) | gnomAD v4 |
| 5 | g.135028932G>A | CA446783971 | PITX1 | c.792C>T (p.Tyr264=) | gnomAD v4 |
| 5 | g.135028932G>C | CA361027499 | PITX1 | c.792C>G (p.Tyr264Ter) | |
| 5 | g.135028932G>T | CA361027500 | PITX1 | c.792C>A (p.Tyr264Ter) | gnomAD v4 COSMIC |
| 5 | g.135028933T>A | CA361027503 | PITX1 | c.791A>T (p.Tyr264Phe) | |
| 5 | g.135028933T>C | CA361027502 | PITX1 | c.791A>G (p.Tyr264Cys) | |
| 5 | g.135028933T>G | CA361027501 | PITX1 | c.791A>C (p.Tyr264Ser) | dbSNP |
| 5 | g.135028933T= | CA1584338969 | PITX1 | c.791A= (p.Tyr264=) | |
| 5 | g.135028934A>C | CA361027504 | PITX1 | c.790T>G (p.Tyr264Asp) | |
| 5 | g.135028934A>G | CA361027505 | PITX1 | c.790T>C (p.Tyr264His) | gnomAD v4 |
| 5 | g.135028934A>T | CA361027506 | PITX1 | c.790T>A (p.Tyr264Asn) | |
| 5 | g.135028934_135028935insAGGG | CA2675353693 | PITX1 | c.789_790insCCCT (p.Tyr264ProfsTer?) | gnomAD v4 |
| 5 | g.135028935C>A | CA446783990 | PITX1 | c.789G>T (p.Pro263=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028935C= | CA1584338972 | PITX1 | c.789G= (p.Pro263=) | |
| 5 | g.135028935C>G | CA3417545 | PITX1 | c.789G>C (p.Pro263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028935C>T | CA3417546 | PITX1 | c.789G>A (p.Pro263=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) |