| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.135028829C>A | CA361027282 | PITX1 | c.895G>T (p.Gly299Cys) | |
| 5 | g.135028829C= | CA1584338785 | PITX1 | c.895G= (p.Gly299=) | |
| 5 | g.135028829C>G | CA361027283 | PITX1 | c.895G>C (p.Gly299Arg) | |
| 5 | g.135028829C>T | CA3417526 | PITX1 | c.895G>A (p.Gly299Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028830G>A | CA446781704 | PITX1 | c.894C>T (p.Gly298=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.135028830G>C | CA446781707 | PITX1 | c.894C>G (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028830G= | CA1584338786 | PITX1 | c.894C= (p.Gly298=) | |
| 5 | g.135028830G>T | CA446781709 | PITX1 | c.894C>A (p.Gly298=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028831C>A | CA361027284 | PITX1 | c.893G>T (p.Gly298Val) | |
| 5 | g.135028831C= | CA1584338791 | PITX1 | c.893G= (p.Gly298=) | |
| 5 | g.135028831C>G | CA361027286 | PITX1 | c.893G>C (p.Gly298Ala) | |
| 5 | g.135028831C>T | CA361027285 | PITX1 | c.893G>A (p.Gly298Asp) | dbSNP |
| 5 | g.135028832C>A | CA361027287 | PITX1 | c.892G>T (p.Gly298Cys) | |
| 5 | g.135028832C>G | CA361027288 | PITX1 | c.892G>C (p.Gly298Arg) | |
| 5 | g.135028832C>T | CA361027289 | PITX1 | c.892G>A (p.Gly298Ser) | |
| 5 | g.135028833G>A | CA446781720 | PITX1 | c.891C>T (p.Tyr297=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028833G>C | CA361027290 | PITX1 | c.891C>G (p.Tyr297Ter) | |
| 5 | g.135028833G= | CA1584338795 | PITX1 | c.891C= (p.Tyr297=) | |
| 5 | g.135028833G>T | CA361027291 | PITX1 | c.891C>A (p.Tyr297Ter) | |
| 5 | g.135028834T>A | CA361027292 | PITX1 | c.890A>T (p.Tyr297Phe) | |
| 5 | g.135028834T>C | CA361027293 | PITX1 | c.890A>G (p.Tyr297Cys) | COSMIC |
| 5 | g.135028834T>G | CA361027294 | PITX1 | c.890A>C (p.Tyr297Ser) | gnomAD v4 |
| 5 | g.135028835A= | CA1584338797 | PITX1 | c.889T= (p.Tyr297=) | |
| 5 | g.135028835A>C | CA361027295 | PITX1 | c.889T>G (p.Tyr297Asp) | |
| 5 | g.135028835A>G | CA361027296 | PITX1 | c.889T>C (p.Tyr297His) | |
| 5 | g.135028835A>T | CA361027297 | PITX1 | c.889T>A (p.Tyr297Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028836G>A | CA446781737 | PITX1 | c.888C>T (p.Gly296=) | dbSNP gnomAD v2 |
| 5 | g.135028836G>C | CA446781733 | PITX1 | c.888C>G (p.Gly296=) | |
| 5 | g.135028836G= | CA1584338799 | PITX1 | c.888C= (p.Gly296=) | |
| 5 | g.135028836G>T | CA446781735 | PITX1 | c.888C>A (p.Gly296=) | |
| 5 | g.135028837C>A | CA361027300 | PITX1 | c.887G>T (p.Gly296Val) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028837C= | CA1584338803 | PITX1 | c.887G= (p.Gly296=) | |
| 5 | g.135028837C>G | CA361027299 | PITX1 | c.887G>C (p.Gly296Ala) | |
| 5 | g.135028837C>T | CA361027298 | PITX1 | c.887G>A (p.Gly296Asp) | gnomAD v4 |
| 5 | g.135028838C>A | CA361027303 | PITX1 | c.886G>T (p.Gly296Cys) | |
| 5 | g.135028838C>G | CA361027301 | PITX1 | c.886G>C (p.Gly296Arg) | |
| 5 | g.135028838C>T | CA361027302 | PITX1 | c.886G>A (p.Gly296Ser) | |
| 5 | g.135028839A= | CA1584338806 | PITX1 | c.885T= (p.Phe295=) | |
| 5 | g.135028839A>C | CA361027304 | PITX1 | c.885T>G (p.Phe295Leu) | |
| 5 | g.135028839A>G | CA446781748 | PITX1 | c.885T>C (p.Phe295=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.135028839A>T | CA361027305 | PITX1 | c.885T>A (p.Phe295Leu) | |
| 5 | g.135028840A>C | CA361027306 | PITX1 | c.884T>G (p.Phe295Cys) | |
| 5 | g.135028840A>G | CA361027307 | PITX1 | c.884T>C (p.Phe295Ser) | gnomAD v4 |
| 5 | g.135028840A>T | CA361027308 | PITX1 | c.884T>A (p.Phe295Tyr) | gnomAD v4 |
| 5 | g.135028841A= | CA1584338811 | PITX1 | c.883T= (p.Phe295=) | |
| 5 | g.135028841A>C | CA361027309 | PITX1 | c.883T>G (p.Phe295Val) | |
| 5 | g.135028841A>G | CA3417527 | PITX1 | c.883T>C (p.Phe295Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.135028841A>T | CA361027310 | PITX1 | c.883T>A (p.Phe295Ile) | |
| 5 | g.135028845_135028847del | CA2675353691 | PITX1 | c.881_883del (p.Ser294del) | gnomAD v4 |
| 5 | g.135028842C>A | CA446781761 | PITX1 | c.882G>T (p.Ser294=) |