Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
5 | g.135028846G>C | CA361027316 | PITX1 | c.878C>G (p.Ser293Trp) | |
5 | g.135028846G= | CA1584338830 | PITX1 | c.878C= (p.Ser293=) | |
5 | g.135028846G>T | CA361027317 | PITX1 | c.878C>A (p.Ser293Ter) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.135028847A>C | CA361027318 | PITX1 | c.877T>G (p.Ser293Ala) | |
5 | g.135028847A>G | CA361027319 | PITX1 | c.877T>C (p.Ser293Pro) | gnomAD v4 |
5 | g.135028847A>T | CA361027320 | PITX1 | c.877T>A (p.Ser293Thr) | |
5 | g.135028848G>A | CA446781790 | PITX1 | c.876C>T (p.His292=) | |
5 | g.135028848G>C | CA361027321 | PITX1 | c.876C>G (p.His292Gln) | |
5 | g.135028848G= | CA1584338832 | PITX1 | c.876C= (p.His292=) | |
5 | g.135028848G>T | CA128009249 | PITX1 | c.876C>A (p.His292Gln) | dbSNP |
5 | g.135028849T>A | CA361027322 | PITX1 | c.875A>T (p.His292Leu) | |
5 | g.135028849T>C | CA361027323 | PITX1 | c.875A>G (p.His292Arg) | gnomAD v4 |
5 | g.135028849T>G | CA361027324 | PITX1 | c.875A>C (p.His292Pro) | |
5 | g.135028851_135028853del | CA2768505078 | PITX1 | c.873_875del (p.Gln291del) | |
5 | g.135028850G>A | CA361027325 | PITX1 | c.874C>T (p.His292Tyr) | |
5 | g.135028850G>C | CA361027327 | PITX1 | c.874C>G (p.His292Asp) | |
5 | g.135028850G>T | CA361027326 | PITX1 | c.874C>A (p.His292Asn) | |
5 | g.135028851C>A | CA361027328 | PITX1 | c.873G>T (p.Gln291His) | |
5 | g.135028851C>G | CA361027329 | PITX1 | c.873G>C (p.Gln291His) | |
5 | g.135028851C>T | CA446781807 | PITX1 | c.873G>A (p.Gln291=) | |
5 | g.135028852T>A | CA361027330 | PITX1 | c.872A>T (p.Gln291Leu) | |
5 | g.135028852T>C | CA361027331 | PITX1 | c.872A>G (p.Gln291Arg) | |
5 | g.135028852T>G | CA361027332 | PITX1 | c.872A>C (p.Gln291Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.135028852T= | CA1584338834 | PITX1 | c.872A= (p.Gln291=) | |
5 | g.135028853G>A | CA361027333 | PITX1 | c.871C>T (p.Gln291Ter) | dbSNP gnomAD v2 |
5 | g.135028853G>C | CA361027334 | PITX1 | c.871C>G (p.Gln291Glu) | |
5 | g.135028853G= | CA1584338839 | PITX1 | c.871C= (p.Gln291=) | |
5 | g.135028853G>T | CA361027335 | PITX1 | c.871C>A (p.Gln291Lys) | |
5 | g.135028854T>A | CA361027336 | PITX1 | c.870A>T (p.Lys290Asn) |