UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135031413_135031416delinsGCTT | CA1584341804 | PITX1 | c.262_265delinsAAGC (p.Lys88=) c.384_387delinsAAGC n.595_598delinsAAGC | |
| 5 | g.135031423_135031425dup | CA563059443 | PITX1 | c.262_264dup (p.Lys88_Gln89insLys) c.384_386dup n.595_597dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031423_135031425del | CA3417651 | PITX1 | c.262_264del (p.Lys88del) c.384_386del n.595_597del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135031416T>A | CA361028686 | PITX1 | c.262A>T (p.Lys88Ter) c.384A>T n.595A>T | |
| 5 | g.135031416T>C | CA361028687 | PITX1 | c.262A>G (p.Lys88Glu) c.384A>G n.595A>G | |
| 5 | g.135031416T>G | CA3417652 | PITX1 | c.262A>C (p.Lys88Gln) c.384A>C n.595A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031416T= | CA1584341816 | PITX1 | c.262A= (p.Lys88=) c.384A= n.595A= | |
| 5 | g.135031417C>A | CA361028688 | PITX1 | c.261G>T (p.Lys87Asn) c.383G>T n.594G>T | |
| 5 | g.135031417C>G | CA361028689 | PITX1 | c.261G>C (p.Lys87Asn) c.383G>C n.594G>C | |
| 5 | g.135031417C>T | CA446784605 | PITX1 | c.261G>A (p.Lys87=) c.383G>A n.594G>A | |
| 5 | g.135031418T>A | CA361028692 | PITX1 | c.260A>T (p.Lys87Met) c.382A>T n.593A>T | |
| 5 | g.135031418T>C | CA361028690 | PITX1 | c.260A>G (p.Lys87Arg) c.382A>G n.593A>G | |
| 5 | g.135031418T>G | CA361028691 | PITX1 | c.260A>C (p.Lys87Thr) c.382A>C n.593A>C | |
| 5 | g.135031419T>A | CA361028693 | PITX1 | c.259A>T (p.Lys87Ter) c.381A>T n.592A>T | |
| 5 | g.135031419T>C | CA361028694 | PITX1 | c.259A>G (p.Lys87Glu) c.381A>G n.592A>G | |
| 5 | g.135031419T>G | CA361028695 | PITX1 | c.259A>C (p.Lys87Gln) c.381A>C n.592A>C | |
| 5 | g.135031420C>A | CA361028696 | PITX1 | c.258G>T (p.Lys86Asn) c.380G>T n.591G>T | |
| 5 | g.135031420C>G | CA361028697 | PITX1 | c.258G>C (p.Lys86Asn) c.380G>C n.591G>C | |
| 5 | g.135031420C>T | CA446784606 | PITX1 | c.258G>A (p.Lys86=) c.380G>A n.591G>A | |
| 5 | g.135031421T>A | CA361028698 | PITX1 | c.257A>T (p.Lys86Met) c.379A>T n.590A>T | gnomAD v4 |
| 5 | g.135031421T>C | CA361028699 | PITX1 | c.257A>G (p.Lys86Arg) c.379A>G n.590A>G | |
| 5 | g.135031421T>G | CA361028700 | PITX1 | c.257A>C (p.Lys86Thr) c.379A>C n.590A>C | dbSNP |
| 5 | g.135031421T= | CA1584341823 | PITX1 | c.257A= (p.Lys86=) c.379A= n.590A= | |
| 5 | g.135031422T>A | CA361028701 | PITX1 | c.256A>T (p.Lys86Ter) c.378A>T n.589A>T | |
| 5 | g.135031422T>C | CA361028702 | PITX1 | c.256A>G (p.Lys86Glu) c.378A>G n.589A>G | gnomAD v4 |
| 5 | g.135031422T>G | CA361028703 | PITX1 | c.256A>C (p.Lys86Gln) c.378A>C n.589A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031422T= | CA1584341827 | PITX1 | c.256A= (p.Lys86=) c.378A= n.589A= | |
| 5 | g.135031423C>A | CA361028704 | PITX1 | c.255G>T (p.Lys85Asn) c.377G>T n.588G>T | |
| 5 | g.135031423C>G | CA361028705 | PITX1 | c.255G>C (p.Lys85Asn) c.377G>C n.588G>C | |
| 5 | g.135031423C>T | CA446784607 | PITX1 | c.255G>A (p.Lys85=) c.377G>A n.588G>A | |
| 5 | g.135031424T>A | CA361028707 | PITX1 | c.254A>T (p.Lys85Met) c.376A>T n.587A>T | |
| 5 | g.135031424T>C | CA361028708 | PITX1 | c.254A>G (p.Lys85Arg) c.376A>G n.587A>G | |
| 5 | g.135031424T>G | CA361028706 | PITX1 | c.254A>C (p.Lys85Thr) c.376A>C n.587A>C | dbSNP |
| 5 | g.135031424T= | CA1584341831 | PITX1 | c.254A= (p.Lys85=) c.376A= n.587A= | |
| 5 | g.135031425T>A | CA361028711 | PITX1 | c.253A>T (p.Lys85Ter) c.375A>T n.586A>T | |
| 5 | g.135031425T>C | CA361028709 | PITX1 | c.253A>G (p.Lys85Glu) c.375A>G n.586A>G | dbSNP gnomAD v4 |
| 5 | g.135031425T>G | CA361028710 | PITX1 | c.253A>C (p.Lys85Gln) c.375A>C n.586A>C | |
| 5 | g.135031425T= | CA1584341833 | PITX1 | c.253A= (p.Lys85=) c.375A= n.586A= | |
| 5 | g.135031426G>A | CA446784608 | PITX1 | c.252C>T (p.Ala84=) c.374C>T n.585C>T | dbSNP |
| 5 | g.135031426G>C | CA446784609 | PITX1 | c.252C>G (p.Ala84=) c.374C>G n.585C>G | |
| 5 | g.135031426G= | CA1584341835 | PITX1 | c.252C= (p.Ala84=) c.374C= n.585C= | |
| 5 | g.135031426G>T | CA446784610 | PITX1 | c.252C>A (p.Ala84=) c.374C>A n.585C>A | |
| 5 | g.135031427G>A | CA361028712 | PITX1 | c.251C>T (p.Ala84Val) c.373C>T n.584C>T | |
| 5 | g.135031427G>C | CA361028713 | PITX1 | c.251C>G (p.Ala84Gly) c.373C>G n.584C>G | gnomAD v4 |
| 5 | g.135031427G= | CA1584341843 | PITX1 | c.251C= (p.Ala84=) c.373C= n.584C= | |
| 5 | g.135031427G>T | CA3417653 | PITX1 | c.251C>A (p.Ala84Asp) c.373C>A n.584C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031428C>A | CA361028714 | PITX1 | c.250G>T (p.Ala84Ser) c.372G>T n.583G>T | |
| 5 | g.135031428C>G | CA361028715 | PITX1 | c.250G>C (p.Ala84Pro) c.372G>C n.583G>C | |
| 5 | g.135031428C>T | CA361028716 | PITX1 | c.250G>A (p.Ala84Thr) c.372G>A n.583G>A | |
| 5 | g.135031429T>A | CA446784611 | PITX1 | c.249A>T (p.Pro83=) c.371A>T n.582A>T | |
| 5 | g.135031429T>C | CA446784612 | PITX1 | c.249A>G (p.Pro83=) c.371A>G n.582A>G | |
| 5 | g.135031429T>G | CA446784613 | PITX1 | c.249A>C (p.Pro83=) c.371A>C n.582A>C | |
| 5 | g.135031430G>A | CA361028717 | PITX1 | c.248C>T (p.Pro83Leu) c.370C>T n.581C>T | |
| 5 | g.135031430G>C | CA361028718 | PITX1 | c.248C>G (p.Pro83Arg) c.370C>G n.581C>G | |
| 5 | g.135031430G>T | CA361028719 | PITX1 | c.248C>A (p.Pro83Gln) c.370C>A n.581C>A | |
| 5 | g.135031431G>A | CA361028722 | PITX1 | c.247C>T (p.Pro83Ser) c.369C>T n.580C>T | |
| 5 | g.135031431G>C | CA361028721 | PITX1 | c.247C>G (p.Pro83Ala) c.369C>G n.580C>G | |
| 5 | g.135031431G>T | CA361028720 | PITX1 | c.247C>A (p.Pro83Thr) c.369C>A n.580C>A | |
| 5 | g.135031432G>A | CA446784614 | PITX1 | c.246C>T (p.Asp82=) c.368C>T n.579C>T | |
| 5 | g.135031432G>C | CA361028723 | PITX1 | c.246C>G (p.Asp82Glu) c.368C>G n.579C>G | |
| 5 | g.135031432G= | CA1584341849 | PITX1 | c.246C= (p.Asp82=) c.368C= n.579C= | |
| 5 | g.135031432G>T | CA361028724 | PITX1 | c.246C>A (p.Asp82Glu) c.368C>A n.579C>A | dbSNP |
| 5 | g.135031433T>A | CA361028725 | PITX1 | c.245A>T (p.Asp82Val) c.367A>T n.578A>T | |
| 5 | g.135031433T>C | CA361028726 | PITX1 | c.245A>G (p.Asp82Gly) c.367A>G n.578A>G | |
| 5 | g.135031433T>G | CA361028727 | PITX1 | c.245A>C (p.Asp82Ala) c.367A>C n.578A>C | |
| 5 | g.135031434C>A | CA361028728 | PITX1 | c.244G>T (p.Asp82Tyr) c.366G>T n.577G>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031434C= | CA1584341856 | PITX1 | c.244G= (p.Asp82=) c.366G= n.577G= | |
| 5 | g.135031434C>G | CA361028729 | PITX1 | c.244G>C (p.Asp82His) c.366G>C n.577G>C | |
| 5 | g.135031434C>T | CA3417654 | PITX1 | c.244G>A (p.Asp82Asn) c.366G>A n.577G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031436_135031441dup | CA2675354041 | PITX1 | c.239_244dup (p.Asp81_Asp82insAlaAsp) c.361_366dup n.572_577dup | gnomAD v4 |
| 5 | g.135031435G>A | CA446784615 | PITX1 | c.243C>T (p.Asp81=) c.365C>T n.576C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031435G>C | CA361028730 | PITX1 | c.243C>G (p.Asp81Glu) c.365C>G n.576C>G | |
| 5 | g.135031435G= | CA1584341859 | PITX1 | c.243C= (p.Asp81=) c.365C= n.576C= | |
| 5 | g.135031435G>T | CA361028731 | PITX1 | c.243C>A (p.Asp81Glu) c.365C>A n.576C>A | gnomAD v4 |
| 5 | g.135031436T>A | CA361028732 | PITX1 | c.242A>T (p.Asp81Val) c.364A>T n.575A>T | |
| 5 | g.135031436T>C | CA361028733 | PITX1 | c.242A>G (p.Asp81Gly) c.364A>G n.575A>G | |
| 5 | g.135031436T>G | CA361028734 | PITX1 | c.242A>C (p.Asp81Ala) c.364A>C n.575A>C | |
| 5 | g.135031437C>A | CA361028736 | PITX1 | c.241G>T (p.Asp81Tyr) c.363G>T n.574G>T | |
| 5 | g.135031437C>G | CA361028737 | PITX1 | c.241G>C (p.Asp81His) c.363G>C n.574G>C | |
| 5 | g.135031437C>T | CA361028735 | PITX1 | c.241G>A (p.Asp81Asn) c.363G>A n.574G>A | |
| 5 | g.135031438T>A | CA446784616 | PITX1 | c.240A>T (p.Ala80=) c.362A>T n.573A>T | |
| 5 | g.135031438T>C | CA446784617 | PITX1 | c.240A>G (p.Ala80=) c.362A>G n.573A>G | |
| 5 | g.135031438T>G | CA446784618 | PITX1 | c.240A>C (p.Ala80=) c.362A>C n.573A>C | gnomAD v4 |
| 5 | g.135031439G>A | CA361028738 | PITX1 | c.239C>T (p.Ala80Val) c.361C>T n.572C>T | |
| 5 | g.135031439G>C | CA361028739 | PITX1 | c.239C>G (p.Ala80Gly) c.361C>G n.572C>G | |
| 5 | g.135031439G>T | CA361028740 | PITX1 | c.239C>A (p.Ala80Glu) c.361C>A n.572C>A | |
| 5 | g.135031439_135031441dup | CA2578464957 | PITX1 | c.237_239dup (p.Ala80_Asp81insAla) c.359_361dup n.570_572dup | |
| 5 | g.135031440C>A | CA361028741 | PITX1 | c.238G>T (p.Ala80Ser) c.360G>T n.571G>T | |
| 5 | g.135031440C= | CA1584341863 | PITX1 | c.238G= (p.Ala80=) c.360G= n.571G= | |
| 5 | g.135031440C>G | CA361028742 | PITX1 | c.238G>C (p.Ala80Pro) c.360G>C n.571G>C | |
| 5 | g.135031440C>T | CA361028743 | PITX1 | c.238G>A (p.Ala80Thr) c.360G>A n.571G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031440_135031455delinsCGCCGCCGCAGCCCGT | CA1584341862 | PITX1 | c.223_238delinsACGGGCTGCGGCGGCG (p.Thr75=) c.345_360delinsACGGGCTGCGGCGGCG n.556_571delinsACGGGCTGCGGCGGCG | |
| 5 | g.135031441G>A | CA446784620 | PITX1 | c.237C>T (p.Gly79=) c.359C>T n.570C>T | gnomAD v4 |
| 5 | g.135031441G>C | CA446784621 | PITX1 | c.237C>G (p.Gly79=) c.359C>G n.570C>G | |
| 5 | g.135031441G>T | CA446784622 | PITX1 | c.237C>A (p.Gly79=) c.359C>A n.570C>A | |
| 5 | g.135031444_135031458del | CA1584341865 | PITX1 | c.223_237del (p.Thr75_Gly79del) c.345_359del n.556_570del | dbSNP gnomAD v4 |
| 5 | g.135031442C>A | CA361028744 | PITX1 | c.236G>T (p.Gly79Val) c.358G>T n.569G>T | |
| 5 | g.135031442C>G | CA361028745 | PITX1 | c.236G>C (p.Gly79Ala) c.358G>C n.569G>C | |
| 5 | g.135031442C>T | CA361028746 | PITX1 | c.236G>A (p.Gly79Asp) c.358G>A n.569G>A | gnomAD v4 |
| 5 | g.135031443C>A | CA3417655 | PITX1 | c.235G>T (p.Gly79Cys) c.357G>T n.568G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031443C= | CA1584341868 | PITX1 | c.235G= (p.Gly79=) c.357G= n.568G= | |
| 5 | g.135031443C>G | CA361028747 | PITX1 | c.235G>C (p.Gly79Arg) c.357G>C n.568G>C | |
| 5 | g.135031443C>T | CA361028748 | PITX1 | c.235G>A (p.Gly79Ser) c.357G>A n.568G>A | |
| 5 | g.135031444G>A | CA446784624 | PITX1 | c.234C>T (p.Gly78=) c.356C>T n.567C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031444G>C | CA446784625 | PITX1 | c.234C>G (p.Gly78=) c.356C>G n.567C>G | |
| 5 | g.135031444G= | CA1584341871 | PITX1 | c.234C= (p.Gly78=) c.356C= n.567C= | |
| 5 | g.135031444G>T | CA3417656 | PITX1 | c.234C>A (p.Gly78=) c.356C>A n.567C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031445C>A | CA361028751 | PITX1 | c.233G>T (p.Gly78Val) c.355G>T n.566G>T | |
| 5 | g.135031445C>G | CA361028750 | PITX1 | c.233G>C (p.Gly78Ala) c.355G>C n.566G>C | |
| 5 | g.135031445C>T | CA361028749 | PITX1 | c.233G>A (p.Gly78Asp) c.355G>A n.566G>A | |
| 5 | g.135031446C>A | CA361028752 | PITX1 | c.232G>T (p.Gly78Cys) c.354G>T n.565G>T | |
| 5 | g.135031446C= | CA1584341874 | PITX1 | c.232G= (p.Gly78=) c.354G= n.565G= | |
| 5 | g.135031446C>G | CA361028753 | PITX1 | c.232G>C (p.Gly78Arg) c.354G>C n.565G>C | |
| 5 | g.135031446C>T | CA3417657 | PITX1 | c.232G>A (p.Gly78Ser) c.354G>A n.565G>A | dbSNP ExAC gnomAD v2 |
| 5 | g.135031447G>A | CA446784627 | PITX1 | c.231C>T (p.Cys77=) c.353C>T n.564C>T | |
| 5 | g.135031447G>C | CA3417658 | PITX1 | c.231C>G (p.Cys77Trp) c.353C>G n.564C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031447G= | CA1584341878 | PITX1 | c.231C= (p.Cys77=) c.353C= n.564C= | |
| 5 | g.135031447G>T | CA361028754 | PITX1 | c.231C>A (p.Cys77Ter) c.353C>A n.564C>A | |
| 5 | g.135031448C>A | CA361028755 | PITX1 | c.230G>T (p.Cys77Phe) c.352G>T n.563G>T | gnomAD v4 |
| 5 | g.135031448C>G | CA361028756 | PITX1 | c.230G>C (p.Cys77Ser) c.352G>C n.563G>C | |
| 5 | g.135031448C>T | CA361028757 | PITX1 | c.230G>A (p.Cys77Tyr) c.352G>A n.563G>A | |
| 5 | g.135031449A>C | CA361028758 | PITX1 | c.229T>G (p.Cys77Gly) c.351T>G n.562T>G | gnomAD v4 |
| 5 | g.135031449A>G | CA361028759 | PITX1 | c.229T>C (p.Cys77Arg) c.351T>C n.562T>C | |
| 5 | g.135031449A>T | CA361028760 | PITX1 | c.229T>A (p.Cys77Ser) c.351T>A n.562T>A | |
| 5 | g.135031450G>A | CA446784629 | PITX1 | c.228C>T (p.Gly76=) c.350C>T n.561C>T | gnomAD v4 |
| 5 | g.135031450G>C | CA446784630 | PITX1 | c.228C>G (p.Gly76=) c.350C>G n.561C>G | |
| 5 | g.135031450G= | CA1584341880 | PITX1 | c.228C= (p.Gly76=) c.350C= n.561C= | |
| 5 | g.135031450G>T | CA446784631 | PITX1 | c.228C>A (p.Gly76=) c.350C>A n.561C>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031451C>A | CA361028761 | PITX1 | c.227G>T (p.Gly76Val) c.349G>T n.560G>T | |
| 5 | g.135031451C>G | CA361028762 | PITX1 | c.227G>C (p.Gly76Ala) c.349G>C n.560G>C | |
| 5 | g.135031451C>T | CA361028763 | PITX1 | c.227G>A (p.Gly76Asp) c.349G>A n.560G>A | |
| 5 | g.135031452C>A | CA361028765 | PITX1 | c.226G>T (p.Gly76Cys) c.348G>T n.559G>T | |
| 5 | g.135031452C= | CA1584341884 | PITX1 | c.226G= (p.Gly76=) c.348G= n.559G= | |
| 5 | g.135031452C>G | CA361028764 | PITX1 | c.226G>C (p.Gly76Arg) c.348G>C n.559G>C | ClinVar dbSNP |
| 5 | g.135031452C>T | CA3417659 | PITX1 | c.226G>A (p.Gly76Ser) c.348G>A n.559G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031453C>A | CA446784633 | PITX1 | c.225G>T (p.Thr75=) c.347G>T n.558G>T | |
| 5 | g.135031453C= | CA1584341887 | PITX1 | c.225G= (p.Thr75=) c.347G= n.558G= | |
| 5 | g.135031453C>G | CA446784634 | PITX1 | c.225G>C (p.Thr75=) c.347G>C n.558G>C | gnomAD v4 |
| 5 | g.135031453C>T | CA3417660 | PITX1 | c.225G>A (p.Thr75=) c.347G>A n.558G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.135031454G>A | CA128011238 | PITX1 | c.224C>T (p.Thr75Met) c.346C>T n.557C>T | dbSNP gnomAD v4 |
| 5 | g.135031454G>C | CA361028767 | PITX1 | c.224C>G (p.Thr75Arg) c.346C>G n.557C>G | |
| 5 | g.135031454G= | CA1584341890 | PITX1 | c.224C= (p.Thr75=) c.346C= n.557C= | |
| 5 | g.135031454G>T | CA361028766 | PITX1 | c.224C>A (p.Thr75Lys) c.346C>A n.557C>A | |
| 5 | g.135031455T>A | CA361028768 | PITX1 | c.223A>T (p.Thr75Ser) c.345A>T n.556A>T | |
| 5 | g.135031455T>C | CA361028770 | PITX1 | c.223A>G (p.Thr75Ala) c.345A>G n.556A>G | |
| 5 | g.135031455T>G | CA361028769 | PITX1 | c.223A>C (p.Thr75Pro) c.345A>C n.556A>C | |
| 5 | g.135031456G>A | CA446784636 | PITX1 | c.222C>T (p.Gly74=) c.344C>T n.555C>T | |
| 5 | g.135031456G>C | CA446784637 | PITX1 | c.222C>G (p.Gly74=) c.344C>G n.555C>G | |
| 5 | g.135031456G>T | CA446784638 | PITX1 | c.222C>A (p.Gly74=) c.344C>A n.555C>A | |
| 5 | g.135031457C>A | CA361028771 | PITX1 | c.221G>T (p.Gly74Val) c.343G>T n.554G>T | |
| 5 | g.135031457C>G | CA361028773 | PITX1 | c.221G>C (p.Gly74Ala) c.343G>C n.554G>C | |
| 5 | g.135031457C>T | CA361028772 | PITX1 | c.221G>A (p.Gly74Asp) c.343G>A n.554G>A | |
| 5 | g.135031458C>A | CA361028774 | PITX1 | c.220G>T (p.Gly74Cys) c.342G>T n.553G>T | |
| 5 | g.135031458C>G | CA361028776 | PITX1 | c.220G>C (p.Gly74Arg) c.342G>C n.553G>C | |
| 5 | g.135031458C>T | CA361028775 | PITX1 | c.220G>A (p.Gly74Ser) c.342G>A n.553G>A | gnomAD v4 |
| 5 | g.135031459T>A | CA446784642 | PITX1 | c.219A>T (p.Gly73=) c.341A>T n.552A>T | |
| 5 | g.135031459T>C | CA446784643 | PITX1 | c.219A>G (p.Gly73=) c.341A>G n.552A>G | |
| 5 | g.135031459T>G | CA446784644 | PITX1 | c.219A>C (p.Gly73=) c.341A>C n.552A>C | |
| 5 | g.135031460C>A | CA361028777 | PITX1 | c.218G>T (p.Gly73Val) c.340G>T n.551G>T | |
| 5 | g.135031460C= | CA1584341893 | PITX1 | c.218G= (p.Gly73=) c.340G= n.551G= | |
| 5 | g.135031460C>G | CA361028778 | PITX1 | c.218G>C (p.Gly73Ala) c.340G>C n.551G>C | dbSNP |
| 5 | g.135031460C>T | CA361028779 | PITX1 | c.218G>A (p.Gly73Glu) c.340G>A n.551G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031461C>A | CA361028780 | PITX1 | c.217G>T (p.Gly73Ter) c.339G>T n.550G>T | |
| 5 | g.135031461C>G | CA361028781 | PITX1 | c.217G>C (p.Gly73Arg) c.339G>C n.550G>C | |
| 5 | g.135031461C>T | CA361028782 | PITX1 | c.217G>A (p.Gly73Arg) c.339G>A n.550G>A | |
| 5 | g.135031462C>A | CA446784647 | PITX1 | c.216G>T (p.Ala72=) c.338G>T n.549G>T | |
| 5 | g.135031462C= | CA1584341896 | PITX1 | c.216G= (p.Ala72=) c.338G= n.549G= | |
| 5 | g.135031462C>G | CA446784646 | PITX1 | c.216G>C (p.Ala72=) c.338G>C n.549G>C | |
| 5 | g.135031462C>T | CA446784645 | PITX1 | c.216G>A (p.Ala72=) c.338G>A n.549G>A | dbSNP gnomAD v4 |
| 5 | g.135031463G>A | CA3417661 | PITX1 | c.215C>T (p.Ala72Val) c.337C>T n.548C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031463G>C | CA361028783 | PITX1 | c.215C>G (p.Ala72Gly) c.337C>G n.548C>G | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031463G= | CA1584341898 | PITX1 | c.215C= (p.Ala72=) c.337C= n.548C= | |
| 5 | g.135031463G>T | CA361028784 | PITX1 | c.215C>A (p.Ala72Glu) c.337C>A n.548C>A | |
| 5 | g.135031464_135031478del | CA2578464958 | PITX1 | c.201_215del (p.Glu68_Ala72del) c.323_337del n.534_548del | |
| 5 | g.135031464C>A | CA361028785 | PITX1 | c.214G>T (p.Ala72Ser) c.336G>T n.547G>T | |
| 5 | g.135031464C= | CA1584341904 | PITX1 | c.214G= (p.Ala72=) c.336G= n.547G= | |
| 5 | g.135031464C>G | CA361028786 | PITX1 | c.214G>C (p.Ala72Pro) c.336G>C n.547G>C | |
| 5 | g.135031464C>T | CA361028787 | PITX1 | c.214G>A (p.Ala72Thr) c.336G>A n.547G>A | dbSNP gnomAD v4 |
| 5 | g.135031465A= | CA1584341905 | PITX1 | c.213T= (p.Gly71=) c.335T= n.546T= | |
| 5 | g.135031465A>C | CA446784650 | PITX1 | c.213T>G (p.Gly71=) c.335T>G n.546T>G | |
| 5 | g.135031465A>G | CA446784651 | PITX1 | c.213T>C (p.Gly71=) c.335T>C n.546T>C | dbSNP gnomAD v2 |
| 5 | g.135031465A>T | CA446784652 | PITX1 | c.213T>A (p.Gly71=) c.335T>A n.546T>A | |
| 5 | g.135031466C>A | CA361028788 | PITX1 | c.212G>T (p.Gly71Val) c.334G>T n.545G>T | |
| 5 | g.135031466C= | CA1584341912 | PITX1 | c.212G= (p.Gly71=) c.334G= n.545G= | |
| 5 | g.135031466C>G | CA361028789 | PITX1 | c.212G>C (p.Gly71Ala) c.334G>C n.545G>C | |
| 5 | g.135031466C>T | CA128011246 | PITX1 | c.212G>A (p.Gly71Asp) c.334G>A n.545G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031467C>A | CA361028790 | PITX1 | c.211G>T (p.Gly71Cys) c.333G>T n.544G>T | dbSNP gnomAD v4 |
| 5 | g.135031467C= | CA1584341914 | PITX1 | c.211G= (p.Gly71=) c.333G= n.544G= | |
| 5 | g.135031467C>G | CA361028791 | PITX1 | c.211G>C (p.Gly71Arg) c.333G>C n.544G>C | |
| 5 | g.135031467C>T | CA361028792 | PITX1 | c.211G>A (p.Gly71Ser) c.333G>A n.544G>A | |
| 5 | g.135031468A>C | CA361028793 | PITX1 | c.210T>G (p.Ser70Arg) c.332T>G n.543T>G | |
| 5 | g.135031468A>G | CA446784656 | PITX1 | c.210T>C (p.Ser70=) c.332T>C n.543T>C | |
| 5 | g.135031468A>T | CA361028794 | PITX1 | c.210T>A (p.Ser70Arg) c.332T>A n.543T>A | |
| 5 | g.135031469C>A | CA361028795 | PITX1 | c.209G>T (p.Ser70Ile) c.331G>T n.542G>T | |
| 5 | g.135031469C>G | CA361028796 | PITX1 | c.209G>C (p.Ser70Thr) c.331G>C n.542G>C | |
| 5 | g.135031469C>T | CA361028797 | PITX1 | c.209G>A (p.Ser70Asn) c.331G>A n.542G>A | gnomAD v4 |
| 5 | g.135031470T>A | CA361028800 | PITX1 | c.208A>T (p.Ser70Cys) c.330A>T n.541A>T | |
| 5 | g.135031470T>C | CA361028799 | PITX1 | c.208A>G (p.Ser70Gly) c.330A>G n.541A>G | |
| 5 | g.135031470T>G | CA361028798 | PITX1 | c.208A>C (p.Ser70Arg) c.330A>C n.541A>C | |
| 5 | g.135031471G>A | CA446784659 | PITX1 | c.207C>T (p.Asp69=) c.329C>T n.540C>T | |
| 5 | g.135031471G>C | CA361028801 | PITX1 | c.207C>G (p.Asp69Glu) c.329C>G n.540C>G | |
| 5 | g.135031471G>T | CA361028802 | PITX1 | c.207C>A (p.Asp69Glu) c.329C>A n.540C>A | |
| 5 | g.135031472T>A | CA361028803 | PITX1 | c.206A>T (p.Asp69Val) c.328A>T n.539A>T | |
| 5 | g.135031472T>C | CA361028804 | PITX1 | c.206A>G (p.Asp69Gly) c.328A>G n.539A>G | |
| 5 | g.135031472T>G | CA361028805 | PITX1 | c.206A>C (p.Asp69Ala) c.328A>C n.539A>C | |
| 5 | g.135031473C>A | CA361028806 | PITX1 | c.205G>T (p.Asp69Tyr) c.327G>T n.538G>T | |
| 5 | g.135031473C>G | CA361028807 | PITX1 | c.205G>C (p.Asp69His) c.327G>C n.538G>C | |
| 5 | g.135031473C>T | CA361028808 | PITX1 | c.205G>A (p.Asp69Asn) c.327G>A n.538G>A | |
| 5 | g.135031474C>A | CA361028809 | PITX1 | c.204G>T (p.Glu68Asp) c.326G>T n.537G>T | |
| 5 | g.135031474C>G | CA361028810 | PITX1 | c.204G>C (p.Glu68Asp) c.326G>C n.537G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031474C>T | CA446784502 | PITX1 | c.204G>A (p.Glu68=) c.326G>A n.537G>A | dbSNP |
| 5 | g.135031475T>A | CA361028811 | PITX1 | c.203A>T (p.Glu68Val) c.325A>T n.536A>T | |
| 5 | g.135031475T>C | CA361028812 | PITX1 | c.203A>G (p.Glu68Gly) c.325A>G n.536A>G | |
| 5 | g.135031475T>G | CA361028813 | PITX1 | c.203A>C (p.Glu68Ala) c.325A>C n.536A>C | |
| 5 | g.135031476C>A | CA361028814 | PITX1 | c.202G>T (p.Glu68Ter) c.324G>T n.535G>T | |
| 5 | g.135031476C= | CA1584341916 | PITX1 | c.202G= (p.Glu68=) c.324G= n.535G= | |
| 5 | g.135031476C>G | CA361028815 | PITX1 | c.202G>C (p.Glu68Gln) c.324G>C n.535G>C | |
| 5 | g.135031476C>T | CA3417662 | PITX1 | c.202G>A (p.Glu68Lys) c.324G>A n.535G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031477G>A | CA446784503 | PITX1 | c.201C>T (p.Pro67=) c.323C>T n.534C>T | dbSNP gnomAD v4 |
| 5 | g.135031477G>C | CA446784504 | PITX1 | c.201C>G (p.Pro67=) c.323C>G n.534C>G | gnomAD v4 |
| 5 | g.135031477G= | CA1584341921 | PITX1 | c.201C= (p.Pro67=) c.323C= n.534C= | |
| 5 | g.135031477G>T | CA446784505 | PITX1 | c.201C>A (p.Pro67=) c.323C>A n.534C>A | |
| 5 | g.135031478G>A | CA361028816 | PITX1 | c.200C>T (p.Pro67Leu) c.322C>T n.533C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031478G>C | CA361028817 | PITX1 | c.200C>G (p.Pro67Arg) c.322C>G n.533C>G | |
| 5 | g.135031478G= | CA1584341924 | PITX1 | c.200C= (p.Pro67=) c.322C= n.533C= | |
| 5 | g.135031478G>T | CA361028818 | PITX1 | c.200C>A (p.Pro67His) c.322C>A n.533C>A | gnomAD v4 |
| 5 | g.135031479G>A | CA361028819 | PITX1 | c.199C>T (p.Pro67Ser) c.321C>T n.532C>T | |
| 5 | g.135031479G>C | CA361028820 | PITX1 | c.199C>G (p.Pro67Ala) c.321C>G n.532C>G | |
| 5 | g.135031479G>T | CA361028821 | PITX1 | c.199C>A (p.Pro67Thr) c.321C>A n.532C>A | gnomAD v4 |
| 5 | g.135031480C>A | CA3417663 | PITX1 | c.198G>T (p.Gly66=) c.320G>T n.531G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031480C= | CA1584341929 | PITX1 | c.198G= (p.Gly66=) c.320G= n.531G= | |
| 5 | g.135031480C>G | CA446784506 | PITX1 | c.198G>C (p.Gly66=) c.320G>C n.531G>C | dbSNP gnomAD v4 |
| 5 | g.135031480C>T | CA446784507 | PITX1 | c.198G>A (p.Gly66=) c.320G>A n.531G>A | gnomAD v4 COSMIC |
| 5 | g.135031481C>A | CA361028822 | PITX1 | c.197G>T (p.Gly66Val) c.319G>T n.530G>T | |
| 5 | g.135031481C>G | CA361028823 | PITX1 | c.197G>C (p.Gly66Ala) c.319G>C n.530G>C | |
| 5 | g.135031481C>T | CA361028824 | PITX1 | c.197G>A (p.Gly66Glu) c.319G>A n.530G>A | |
| 5 | g.135031482C>A | CA361028826 | PITX1 | c.196G>T (p.Gly66Trp) c.318G>T n.529G>T | gnomAD v4 |
| 5 | g.135031482C>G | CA361028827 | PITX1 | c.196G>C (p.Gly66Arg) c.318G>C n.529G>C | |
| 5 | g.135031482C>T | CA361028825 | PITX1 | c.196G>A (p.Gly66Arg) c.318G>A n.529G>A | gnomAD v4 |
| 5 | g.135031483C>A | CA361028828 | PITX1 | c.195G>T (p.Lys65Asn) c.317G>T n.528G>T | |
| 5 | g.135031483C= | CA1584341934 | PITX1 | c.195G= (p.Lys65=) c.317G= n.528G= | |
| 5 | g.135031483C>G | CA361028829 | PITX1 | c.195G>C (p.Lys65Asn) c.317G>C n.528G>C | |
| 5 | g.135031483C>T | CA3417664 | PITX1 | c.195G>A (p.Lys65=) c.317G>A n.528G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031484T>A | CA361028830 | PITX1 | c.194A>T (p.Lys65Met) c.316A>T n.527A>T | |
| 5 | g.135031484T>C | CA361028831 | PITX1 | c.194A>G (p.Lys65Arg) c.316A>G n.527A>G | |
| 5 | g.135031484T>G | CA361028832 | PITX1 | c.194A>C (p.Lys65Thr) c.316A>C n.527A>C | |
| 5 | g.135031485T>A | CA361028833 | PITX1 | c.193A>T (p.Lys65Ter) c.315A>T n.526A>T | |
| 5 | g.135031485T>C | CA361028834 | PITX1 | c.193A>G (p.Lys65Glu) c.315A>G n.526A>G | gnomAD v4 |
| 5 | g.135031485T>G | CA361028835 | PITX1 | c.193A>C (p.Lys65Gln) c.315A>C n.526A>C | |
| 5 | g.135031486G>A | CA446784508 | PITX1 | c.192C>T (p.Pro64=) c.314C>T n.525C>T | dbSNP gnomAD v2 |
| 5 | g.135031486G>C | CA446784509 | PITX1 | c.192C>G (p.Pro64=) c.314C>G n.525C>G | |
| 5 | g.135031486G= | CA1584341936 | PITX1 | c.192C= (p.Pro64=) c.314C= n.525C= | |
| 5 | g.135031486G>T | CA446784510 | PITX1 | c.192C>A (p.Pro64=) c.314C>A n.525C>A | |
| 5 | g.135031487G>A | CA361028836 | PITX1 | c.191C>T (p.Pro64Leu) c.313C>T n.524C>T | |
| 5 | g.135031487G>C | CA361028837 | PITX1 | c.191C>G (p.Pro64Arg) c.313C>G n.524C>G | |
| 5 | g.135031487G>T | CA361028838 | PITX1 | c.191C>A (p.Pro64His) c.313C>A n.524C>A | gnomAD v4 |
| 5 | g.135031488G>A | CA361028841 | PITX1 | c.190C>T (p.Pro64Ser) c.312C>T n.523C>T | |
| 5 | g.135031488G>C | CA361028840 | PITX1 | c.190C>G (p.Pro64Ala) c.312C>G n.523C>G | |
| 5 | g.135031488G>T | CA361028839 | PITX1 | c.190C>A (p.Pro64Thr) c.312C>A n.523C>A | gnomAD v4 |
| 5 | g.135031488_135031508dup | CA2675354042 | PITX1 | c.170_190dup (p.Glu63_Pro64insGlnLysGluArgGlyGlyGlu) c.292_312dup n.503_523dup | gnomAD v4 |
| 5 | g.135031489T>A | CA361028842 | PITX1 | c.189A>T (p.Glu63Asp) c.311A>T n.522A>T | |
| 5 | g.135031489T>C | CA446784511 | PITX1 | c.189A>G (p.Glu63=) c.311A>G n.522A>G | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031489T>G | CA361028843 | PITX1 | c.189A>C (p.Glu63Asp) c.311A>C n.522A>C | gnomAD v4 |
| 5 | g.135031489T= | CA1584341939 | PITX1 | c.189A= (p.Glu63=) c.311A= n.522A= | |
| 5 | g.135031490T>A | CA361028844 | PITX1 | c.188A>T (p.Glu63Val) c.310A>T n.521A>T | |
| 5 | g.135031490T>C | CA361028845 | PITX1 | c.188A>G (p.Glu63Gly) c.310A>G n.521A>G | |
| 5 | g.135031490T>G | CA361028846 | PITX1 | c.188A>C (p.Glu63Ala) c.310A>C n.521A>C | |
| 5 | g.135031491C>A | CA361028847 | PITX1 | c.187G>T (p.Glu63Ter) c.309G>T n.520G>T | COSMIC |
| 5 | g.135031491C>G | CA361028848 | PITX1 | c.187G>C (p.Glu63Gln) c.309G>C n.520G>C | |
| 5 | g.135031491C>T | CA361028849 | PITX1 | c.187G>A (p.Glu63Lys) c.309G>A n.520G>A | |
| 5 | g.135031492C>A | CA446784512 | PITX1 | c.186G>T (p.Gly62=) c.308G>T n.519G>T | |
| 5 | g.135031492C>G | CA446784513 | PITX1 | c.186G>C (p.Gly62=) c.308G>C n.519G>C | |
| 5 | g.135031492C>T | CA446784514 | PITX1 | c.186G>A (p.Gly62=) c.308G>A n.519G>A | |
| 5 | g.135031493C>A | CA361028850 | PITX1 | c.185G>T (p.Gly62Val) c.307G>T n.518G>T | |
| 5 | g.135031493C>G | CA361028851 | PITX1 | c.185G>C (p.Gly62Ala) c.307G>C n.518G>C | |
| 5 | g.135031493C>T | CA361028852 | PITX1 | c.185G>A (p.Gly62Glu) c.307G>A n.518G>A | gnomAD v4 |
| 5 | g.135031494C>A | CA128011274 | PITX1 | c.184G>T (p.Gly62Trp) c.306G>T n.517G>T | dbSNP gnomAD v4 COSMIC |
| 5 | g.135031494C= | CA1584341943 | PITX1 | c.184G= (p.Gly62=) c.306G= n.517G= | |
| 5 | g.135031494C>G | CA361028853 | PITX1 | c.184G>C (p.Gly62Arg) c.306G>C n.517G>C | |
| 5 | g.135031494C>T | CA361028854 | PITX1 | c.184G>A (p.Gly62Arg) c.306G>A n.517G>A | dbSNP |
| 5 | g.135031495G>A | CA446784515 | PITX1 | c.183C>T (p.Gly61=) c.305C>T n.516C>T | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031495G>C | CA446784516 | PITX1 | c.183C>G (p.Gly61=) c.305C>G n.516C>G | |
| 5 | g.135031495G= | CA1584341946 | PITX1 | c.183C= (p.Gly61=) c.305C= n.516C= | |
| 5 | g.135031495G>T | CA446784517 | PITX1 | c.183C>A (p.Gly61=) c.305C>A n.516C>A | |
| 5 | g.135031496C>A | CA361028856 | PITX1 | c.182G>T (p.Gly61Val) c.304G>T n.515G>T | |
| 5 | g.135031496C>G | CA361028857 | PITX1 | c.182G>C (p.Gly61Ala) c.304G>C n.515G>C | |
| 5 | g.135031496C>T | CA361028855 | PITX1 | c.182G>A (p.Gly61Asp) c.304G>A n.515G>A | gnomAD v4 |
| 5 | g.135031497C>A | CA361028858 | PITX1 | c.181G>T (p.Gly61Cys) c.303G>T n.514G>T | |
| 5 | g.135031497C= | CA1584341950 | PITX1 | c.181G= (p.Gly61=) c.303G= n.514G= | |
| 5 | g.135031497C>G | CA361028859 | PITX1 | c.181G>C (p.Gly61Arg) c.303G>C n.514G>C | gnomAD v4 |
| 5 | g.135031497C>T | CA3417665 | PITX1 | c.181G>A (p.Gly61Ser) c.303G>A n.514G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031498G>A | CA446784518 | PITX1 | c.180C>T (p.Arg60=) c.302C>T n.513C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.135031498G>C | CA446784519 | PITX1 | c.180C>G (p.Arg60=) c.302C>G n.513C>G | gnomAD v4 |
| 5 | g.135031498G= | CA1584341952 | PITX1 | c.180C= (p.Arg60=) c.302C= n.513C= | |
| 5 | g.135031498G>T | CA446784520 | PITX1 | c.180C>A (p.Arg60=) c.302C>A n.513C>A | |
| 5 | g.135031499C>A | CA361028860 | PITX1 | c.179G>T (p.Arg60Leu) c.301G>T n.512G>T | gnomAD v4 |
| 5 | g.135031499C= | CA1584341956 | PITX1 | c.179G= (p.Arg60=) c.301G= n.512G= | |
| 5 | g.135031499C>G | CA361028861 | PITX1 | c.179G>C (p.Arg60Pro) c.301G>C n.512G>C | gnomAD v4 |
| 5 | g.135031499C>T | CA361028862 | PITX1 | c.179G>A (p.Arg60His) c.301G>A n.512G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031500G>A | CA3417666 | PITX1 | c.178C>T (p.Arg60Cys) c.300C>T n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031500G>C | CA361028863 | PITX1 | c.178C>G (p.Arg60Gly) c.300C>G n.511C>G | |
| 5 | g.135031500G= | CA1584341959 | PITX1 | c.178C= (p.Arg60=) c.300C= n.511C= | |
| 5 | g.135031500G>T | CA3417667 | PITX1 | c.178C>A (p.Arg60Ser) c.300C>A n.511C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031501C>A | CA361028864 | PITX1 | c.177G>T (p.Glu59Asp) c.299G>T n.510G>T | |
| 5 | g.135031501C= | CA1584341961 | PITX1 | c.177G= (p.Glu59=) c.299G= n.510G= | |
| 5 | g.135031501C>G | CA361028865 | PITX1 | c.177G>C (p.Glu59Asp) c.299G>C n.510G>C | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031501C>T | CA446784521 | PITX1 | c.177G>A (p.Glu59=) c.299G>A n.510G>A | dbSNP gnomAD v4 |
| 5 | g.135031502T>A | CA361028868 | PITX1 | c.176A>T (p.Glu59Val) c.298A>T n.509A>T | |
| 5 | g.135031502T>C | CA361028867 | PITX1 | c.176A>G (p.Glu59Gly) c.298A>G n.509A>G | |
| 5 | g.135031502T>G | CA361028866 | PITX1 | c.176A>C (p.Glu59Ala) c.298A>C n.509A>C | |
| 5 | g.135031503C>A | CA361028869 | PITX1 | c.175G>T (p.Glu59Ter) c.297G>T n.508G>T | |
| 5 | g.135031503C>G | CA361028870 | PITX1 | c.175G>C (p.Glu59Gln) c.297G>C n.508G>C | |
| 5 | g.135031503C>T | CA361028871 | PITX1 | c.175G>A (p.Glu59Lys) c.297G>A n.508G>A | gnomAD v4 |
| 5 | g.135031504C>A | CA361028872 | PITX1 | c.174G>T (p.Lys58Asn) c.296G>T n.507G>T | gnomAD v4 |
| 5 | g.135031504C>G | CA361028873 | PITX1 | c.174G>C (p.Lys58Asn) c.296G>C n.507G>C | |
| 5 | g.135031504C>T | CA446784522 | PITX1 | c.174G>A (p.Lys58=) c.296G>A n.507G>A | gnomAD v4 |
| 5 | g.135031505T>A | CA361028874 | PITX1 | c.173A>T (p.Lys58Met) c.295A>T n.506A>T | |
| 5 | g.135031505T>C | CA361028875 | PITX1 | c.173A>G (p.Lys58Arg) c.295A>G n.506A>G | gnomAD v4 |
| 5 | g.135031505T>G | CA361028876 | PITX1 | c.173A>C (p.Lys58Thr) c.295A>C n.506A>C | |
| 5 | g.135031506T>A | CA361028877 | PITX1 | c.172A>T (p.Lys58Ter) c.294A>T n.505A>T | |
| 5 | g.135031506T>C | CA361028878 | PITX1 | c.172A>G (p.Lys58Glu) c.294A>G n.505A>G | gnomAD v4 |
| 5 | g.135031506T>G | CA361028879 | PITX1 | c.172A>C (p.Lys58Gln) c.294A>C n.505A>C | |
| 5 | g.135031507C>A | CA361028880 | PITX1 | c.171G>T (p.Glu57Asp) c.293G>T n.504G>T | |
| 5 | g.135031507C>G | CA361028881 | PITX1 | c.171G>C (p.Glu57Asp) c.293G>C n.504G>C | |
| 5 | g.135031507C>T | CA446784523 | PITX1 | c.171G>A (p.Glu57=) c.293G>A n.504G>A | |
| 5 | g.135031508T>A | CA361028883 | PITX1 | c.170A>T (p.Glu57Val) c.292A>T n.503A>T | |
| 5 | g.135031508T>C | CA361028884 | PITX1 | c.170A>G (p.Glu57Gly) c.292A>G n.503A>G | |
| 5 | g.135031508T>G | CA361028882 | PITX1 | c.170A>C (p.Glu57Ala) c.292A>C n.503A>C | |
| 5 | g.135031509C>A | CA361028886 | PITX1 | c.170-1G>T (n.170-1G>T) c.292-1G>T n.502G>T | |
| 5 | g.135031509C= | CA1584341966 | PITX1 | c.170-1G= (n.170-1G=) c.292-1G= n.502G= | |
| 5 | g.135031509C>G | CA361028885 | PITX1 | c.170-1G>C (n.170-1G>C) c.292-1G>C n.502G>C | |
| 5 | g.135031509C>T | CA361028887 | PITX1 | c.170-1G>A (n.170-1G>A) c.292-1G>A n.502G>A | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031510T>A | CA361028888 | PITX1 | c.170-2A>T (n.170-2A>T) c.292-2A>T n.501A>T | |
| 5 | g.135031510T>C | CA16605274 | PITX1 | c.170-2A>G (n.170-2A>G) c.292-2A>G n.501A>G | ClinVar dbSNP |
| 5 | g.135031510T>G | CA361028889 | PITX1 | c.170-2A>C (n.170-2A>C) c.292-2A>C n.501A>C | |
| 5 | g.135031510T= | CA1584341973 | PITX1 | c.170-2A= (n.170-2A=) c.292-2A= n.501A= | |
| 5 | g.135031511G>A | CA128011285 | PITX1 | c.170-3C>T (n.170-3C>T) c.292-3C>T n.500C>T | dbSNP gnomAD v4 |
| 5 | g.135031511G= | CA1584341976 | PITX1 | c.170-3C= (n.170-3C=) c.292-3C= n.500C= | |
| 5 | g.135031512C>A | CA2524785095 | PITX1 | c.170-4G>T (n.170-4G>T) c.292-4G>T n.499G>T | |
| 5 | g.135031512C= | CA1584341977 | PITX1 | c.170-4G= (n.170-4G=) c.292-4G= n.499G= | |
| 5 | g.135031512C>T | CA128011289 | PITX1 | c.170-4G>A (n.170-4G>A) c.292-4G>A n.499G>A | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135031513A>G | CA2675354043 | PITX1 | c.170-5T>C (n.170-5T>C) c.292-5T>C n.498T>C | gnomAD v4 |
| 5 | g.135031514G>A | CA2675354044 | PITX1 | c.170-6C>T (n.170-6C>T) c.292-6C>T n.497C>T | gnomAD v4 |
| 5 | g.135031515T>C | CA3417668 | PITX1 | c.170-7A>G (n.170-7A>G) c.292-7A>G n.496A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135031515T>G | CA2675354045 | PITX1 | c.170-7A>C (n.170-7A>C) c.292-7A>C n.496A>C | gnomAD v4 |
| 5 | g.135031515T= | CA1584341979 | PITX1 | c.170-7A= (n.170-7A=) c.292-7A= n.496A= | |
| 5 | g.135031516A= | CA1584341981 | PITX1 | c.170-8T= (n.170-8T=) c.292-8T= n.495T= | |
| 5 | g.135031516A>G | CA804235443 | PITX1 | c.170-8T>C (n.170-8T>C) c.292-8T>C n.495T>C | dbSNP gnomAD v4 |
| 5 | g.135031516A>T | CA2710077778 | PITX1 | c.170-8T>A (n.170-8T>A) c.292-8T>A n.495T>A | dbSNP |