Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.135028842C= | CA1584338815 | PITX1 | c.882G= (p.Ser294=) | |
5 | g.135028842C>G | CA3417528 | PITX1 | c.882G>C (p.Ser294=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028842C>T | CA446781763 | PITX1 | c.882G>A (p.Ser294=) | gnomAD v4 COSMIC |
5 | g.135028843G>A | CA3417529 | PITX1 | c.881C>T (p.Ser294Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028843G>C | CA361027311 | PITX1 | c.881C>G (p.Ser294Trp) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.135028843G= | CA1584338821 | PITX1 | c.881C= (p.Ser294=) | |
5 | g.135028843G>T | CA128009231 | PITX1 | c.881C>A (p.Ser294Ter) | dbSNP |
5 | g.135028844A>C | CA361027314 | PITX1 | c.880T>G (p.Ser294Ala) | |
5 | g.135028844A>G | CA361027312 | PITX1 | c.880T>C (p.Ser294Pro) | |
5 | g.135028844A>T | CA361027313 | PITX1 | c.880T>A (p.Ser294Thr) | |
5 | g.135028845C>A | CA446781778 | PITX1 | c.879G>T (p.Ser293=) | gnomAD v4 |
5 | g.135028845C= | CA1584338825 | PITX1 | c.879G= (p.Ser293=) | |
5 | g.135028845C>G | CA3417530 | PITX1 | c.879G>C (p.Ser293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028845C>T | CA3417531 | PITX1 | c.879G>A (p.Ser293=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028846G>A | CA361027315 | PITX1 | c.878C>T (p.Ser293Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |