| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135031406_135031411del | CA2675354040 | PITX1 | c.269_274del (p.Arg90_Arg91del) c.391_396del n.602_607del | gnomAD v4 |
| 5 | g.135031410G>A | CA361028672 | PITX1 | c.268C>T (p.Arg90Trp) c.390C>T n.601C>T | |
| 5 | g.135031410G>C | CA361028673 | PITX1 | c.268C>G (p.Arg90Gly) c.390C>G n.601C>G | |
| 5 | g.135031410G>T | CA446784602 | PITX1 | c.268C>A (p.Arg90=) c.390C>A n.601C>A | |
| 5 | g.135031413_135031415dup | CA563059442 | PITX1 | c.266_268dup (p.Gln89_Arg90insGln) c.388_390dup n.599_601dup | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135031411C>A | CA361028674 | PITX1 | c.267G>T (p.Gln89His) c.389G>T n.600G>T | |
| 5 | g.135031411C>G | CA361028675 | PITX1 | c.267G>C (p.Gln89His) c.389G>C n.600G>C | |
| 5 | g.135031411C>T | CA446784603 | PITX1 | c.267G>A (p.Gln89=) c.389G>A n.600G>A | |
| 5 | g.135031412T>A | CA361028676 | PITX1 | c.266A>T (p.Gln89Leu) c.388A>T n.599A>T | |
| 5 | g.135031412T>C | CA361028677 | PITX1 | c.266A>G (p.Gln89Arg) c.388A>G n.599A>G | |
| 5 | g.135031412T>G | CA361028678 | PITX1 | c.266A>C (p.Gln89Pro) c.388A>C n.599A>C | |
| 5 | g.135031413G>A | CA361028680 | PITX1 | c.265C>T (p.Gln89Ter) c.387C>T n.598C>T | |
| 5 | g.135031413G>C | CA128011197 | PITX1 | c.265C>G (p.Gln89Glu) c.387C>G n.598C>G | dbSNP gnomAD v4 |
| 5 | g.135031413G= | CA1584341805 | PITX1 | c.265C= (p.Gln89=) c.387C= n.598C= | |
| 5 | g.135031413G>T | CA361028679 | PITX1 | c.265C>A (p.Gln89Lys) c.387C>A n.598C>A | |
| 5 | g.135031413_135031416delinsGCTT | CA1584341804 | PITX1 | c.262_265delinsAAGC (p.Lys88=) c.384_387delinsAAGC n.595_598delinsAAGC | |
| 5 | g.135031414C>A | CA361028681 | PITX1 | c.264G>T (p.Lys88Asn) c.386G>T n.597G>T | |
| 5 | g.135031414C>G | CA361028682 | PITX1 | c.264G>C (p.Lys88Asn) c.386G>C n.597G>C | |
| 5 | g.135031414C>T | CA446784604 | PITX1 | c.264G>A (p.Lys88=) c.386G>A n.597G>A | |
| 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.135031415T>A | CA361028683 | PITX1 | c.263A>T (p.Lys88Met) c.385A>T n.596A>T | |
| 5 | g.135031415T>C | CA361028684 | PITX1 | c.263A>G (p.Lys88Arg) c.385A>G n.596A>G | |
| 5 | g.135031415T>G | CA361028685 | PITX1 | c.263A>C (p.Lys88Thr) c.385A>C n.596A>C | |
| 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 |