Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.51744647G>A | CA16044244 | GSPT2 | c.1021G>A (p.Val341Ile) | ClinVar dbSNP gnomAD v4 |
X | g.51744647G>C | CA413207698 | GSPT2 | c.1021G>C (p.Val341Leu) | |
X | g.51744647G= | CA2429310703 | GSPT2 | c.1021G= (p.Val341=) | |
X | g.51744647G>T | CA413207697 | GSPT2 | c.1021G>T (p.Val341Leu) | |
X | g.51744648T>A | CA413207699 | GSPT2 | c.1022T>A (p.Val341Glu) | |
X | g.51744648T>C | CA413207700 | GSPT2 | c.1022T>C (p.Val341Ala) | |
X | g.51744648T>G | CA10417296 | GSPT2 | c.1022T>G (p.Val341Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.51744648T= | CA2429310704 | GSPT2 | c.1022T= (p.Val341=) | |
X | g.51744649A>C | CA516683889 | GSPT2 | c.1023A>C (p.Val341=) | |
X | g.51744649A>G | CA516683890 | GSPT2 | c.1023A>G (p.Val341=) | gnomAD v4 |
X | g.51744649A>T | CA516683891 | GSPT2 | c.1023A>T (p.Val341=) | |
X | g.51744650A>C | CA413207701 | GSPT2 | c.1024A>C (p.Lys342Gln) | |
X | g.51744650A>G | CA413207702 | GSPT2 | c.1024A>G (p.Lys342Glu) | |
X | g.51744650A>T | CA413207703 | GSPT2 | c.1024A>T (p.Lys342Ter) | |
X | g.51744651A>C | CA413207704 | GSPT2 | c.1025A>C (p.Lys342Thr) | |
X | g.51744651A>G | CA413207705 | GSPT2 | c.1025A>G (p.Lys342Arg) | |
X | g.51744651A>T | CA413207706 | GSPT2 | c.1025A>T (p.Lys342Ile) | |
X | g.51744652A>C | CA413207707 | GSPT2 | c.1026A>C (p.Lys342Asn) | |
X | g.51744652A>G | CA516683894 | GSPT2 | c.1026A>G (p.Lys342=) | |
X | g.51744652A>T | CA413207708 | GSPT2 | c.1026A>T (p.Lys342Asn) | |
X | g.51744653C>A | CA413207712 | GSPT2 | c.1027C>A (p.His343Asn) | |
X | g.51744653C>G | CA413207711 | GSPT2 | c.1027C>G (p.His343Asp) | |
X | g.51744653C>T | CA413207710 | GSPT2 | c.1027C>T (p.His343Tyr) | gnomAD v4 |
X | g.51744654A>C | CA413207713 | GSPT2 | c.1028A>C (p.His343Pro) | |
X | g.51744654A>G | CA413207714 | GSPT2 | c.1028A>G (p.His343Arg) | |
X | g.51744654A>T | CA413207715 | GSPT2 | c.1028A>T (p.His343Leu) | |
X | g.51744655T>A | CA413207716 | GSPT2 | c.1029T>A (p.His343Gln) | |
X | g.51744655T>C | CA516683900 | GSPT2 | c.1029T>C (p.His343=) | |
X | g.51744655T>G | CA413207717 | GSPT2 | c.1029T>G (p.His343Gln) | |
X | g.51744656T>A | CA413207718 | GSPT2 | c.1030T>A (p.Leu344Ile) | |
X | g.51744656T>C | CA516683901 | GSPT2 | c.1030T>C (p.Leu344=) | |
X | g.51744656T>G | CA413207719 | GSPT2 | c.1030T>G (p.Leu344Val) | |
X | g.51744657T>A | CA413207720 | GSPT2 | c.1031T>A (p.Leu344Ter) | |
X | g.51744657T>C | CA413207721 | GSPT2 | c.1031T>C (p.Leu344Ser) | |
X | g.51744657T>G | CA413207722 | GSPT2 | c.1031T>G (p.Leu344Ter) | |
X | g.51744658A>C | CA413207723 | GSPT2 | c.1032A>C (p.Leu344Phe) | |
X | g.51744658A>G | CA516683906 | GSPT2 | c.1032A>G (p.Leu344=) | |
X | g.51744658A>T | CA413207724 | GSPT2 | c.1032A>T (p.Leu344Phe) | |
X | g.51744659A= | CA2429310705 | GSPT2 | c.1033A= (p.Ile345=) | |
X | g.51744659A>C | CA413207727 | GSPT2 | c.1033A>C (p.Ile345Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.51744659A>G | CA413207726 | GSPT2 | c.1033A>G (p.Ile345Val) | |
X | g.51744659A>T | CA413207725 | GSPT2 | c.1033A>T (p.Ile345Leu) | |
X | g.51744660T>A | CA413207728 | GSPT2 | c.1034T>A (p.Ile345Lys) | |
X | g.51744660T>C | CA413207730 | GSPT2 | c.1034T>C (p.Ile345Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.51744660T>G | CA413207729 | GSPT2 | c.1034T>G (p.Ile345Arg) | |
X | g.51744660T= | CA2429310706 | GSPT2 | c.1034T= (p.Ile345=) | |
X | g.51744661A>C | CA516683908 | GSPT2 | c.1035A>C (p.Ile345=) | |
X | g.51744661A>G | CA413207731 | GSPT2 | c.1035A>G (p.Ile345Met) | gnomAD v4 |
X | g.51744661A>T | CA516683910 | GSPT2 | c.1035A>T (p.Ile345=) | |
X | g.51744662del | CA2693760115 | GSPT2 | c.1036del (p.Val346CysfsTer11) | gnomAD v4 |