Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42901010_42901011delinsTC | CA2260692889 | G6PC1 | c.134_135delinsTC (p.Val45=) n.199_200delinsTC | |
17 | g.42901011C>A | CA290783724 | G6PC1 | c.135C>A (p.Val45=) n.200C>A | ClinVar dbSNP gnomAD v4 |
17 | g.42901011C= | CA2260692890 | G6PC1 | c.135C= (p.Val45=) n.200C= | |
17 | g.42901011C>G | CA500229359 | G6PC1 | c.135C>G (p.Val45=) n.200C>G | |
17 | g.42901011C>T | CA500229360 | G6PC1 | c.135C>T (p.Val45=) n.200C>T | dbSNP |
17 | g.42901012del | CA16041841 | G6PC1 | c.136del (p.Leu46SerfsTer19) n.201del | ClinVar dbSNP gnomAD v4 |
17 | g.42901012C>A | CA399650798 | G6PC1 | c.136C>A (p.Leu46Ile) n.201C>A | |
17 | g.42901012C= | CA2260692891 | G6PC1 | c.136C= (p.Leu46=) n.201C= | |
17 | g.42901012C>G | CA399650801 | G6PC1 | c.136C>G (p.Leu46Val) n.201C>G | |
17 | g.42901012C>T | CA8587496 | G6PC1 | c.136C>T (p.Leu46Phe) n.201C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901013T>A | CA399650814 | G6PC1 | c.137T>A (p.Leu46His) n.202T>A | |
17 | g.42901013T>C | CA399650811 | G6PC1 | c.137T>C (p.Leu46Pro) n.202T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901013T>G | CA399650812 | G6PC1 | c.137T>G (p.Leu46Arg) n.202T>G | |
17 | g.42901013T= | CA2260692892 | G6PC1 | c.137T= (p.Leu46=) n.202T= | |
17 | g.42901014C>A | CA500229363 | G6PC1 | c.138C>A (p.Leu46=) n.203C>A | |
17 | g.42901014C= | CA2260692893 | G6PC1 | c.138C= (p.Leu46=) n.203C= | |
17 | g.42901014C>G | CA500229361 | G6PC1 | c.138C>G (p.Leu46=) n.203C>G | |
17 | g.42901014C>T | CA500229362 | G6PC1 | c.138C>T (p.Leu46=) n.203C>T | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901015T>A | CA399650818 | G6PC1 | c.139T>A (p.Phe47Ile) n.204T>A | |
17 | g.42901015T>C | CA399650820 | G6PC1 | c.139T>C (p.Phe47Leu) n.204T>C | |
17 | g.42901015T>G | CA399650823 | G6PC1 | c.139T>G (p.Phe47Val) n.204T>G | |
17 | g.42901016T>A | CA399650825 | G6PC1 | c.140T>A (p.Phe47Tyr) n.205T>A | |
17 | g.42901016T>C | CA399650827 | G6PC1 | c.140T>C (p.Phe47Ser) n.205T>C | gnomAD v4 |
17 | g.42901016T>G | CA399650828 | G6PC1 | c.140T>G (p.Phe47Cys) n.205T>G | gnomAD v4 |
17 | g.42901017C>A | CA399650835 | G6PC1 | c.141C>A (p.Phe47Leu) n.206C>A | |
17 | g.42901017C= | CA2260692894 | G6PC1 | c.141C= (p.Phe47=) n.206C= | |
17 | g.42901017C>G | CA399650836 | G6PC1 | c.141C>G (p.Phe47Leu) n.206C>G | ClinVar |
17 | g.42901017C>T | CA500229364 | G6PC1 | c.141C>T (p.Phe47=) n.206C>T | ClinVar dbSNP gnomAD v4 |
17 | g.42901020del | CA2638039655 | G6PC1 | c.144del (p.Ile49SerfsTer16) n.209del | gnomAD v4 |
17 | g.42901018C>A | CA399650839 | G6PC1 | c.142C>A (p.Pro48Thr) n.207C>A | |
17 | g.42901018C= | CA2260692895 | G6PC1 | c.142C= (p.Pro48=) n.207C= | |
17 | g.42901018C>G | CA399650840 | G6PC1 | c.142C>G (p.Pro48Ala) n.207C>G | gnomAD v4 |
17 | g.42901018C>T | CA399650842 | G6PC1 | c.142C>T (p.Pro48Ser) n.207C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901019C>A | CA399650846 | G6PC1 | c.143C>A (p.Pro48His) n.208C>A | |
17 | g.42901019C>G | CA399650849 | G6PC1 | c.143C>G (p.Pro48Arg) n.208C>G | |
17 | g.42901019C>T | CA399650848 | G6PC1 | c.143C>T (p.Pro48Leu) n.208C>T | |
17 | g.42901020C>A | CA500229365 | G6PC1 | c.144C>A (p.Pro48=) n.209C>A | COSMIC |
17 | g.42901020C>G | CA500229366 | G6PC1 | c.144C>G (p.Pro48=) n.209C>G | |
17 | g.42901020C>T | CA500229367 | G6PC1 | c.144C>T (p.Pro48=) n.209C>T | ClinVar dbSNP |
17 | g.42901021A= | CA2260692896 | G6PC1 | c.145A= (p.Ile49=) n.210A= | |
17 | g.42901021A>C | CA399650851 | G6PC1 | c.145A>C (p.Ile49Leu) n.210A>C | gnomAD v4 |
17 | g.42901021A>G | CA399650853 | G6PC1 | c.145A>G (p.Ile49Val) n.210A>G | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42901021A>T | CA399650854 | G6PC1 | c.145A>T (p.Ile49Phe) n.210A>T | |
17 | g.42901022T>A | CA290783739 | G6PC1 | c.146T>A (p.Ile49Asn) n.211T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901022T>C | CA399650855 | G6PC1 | c.146T>C (p.Ile49Thr) n.211T>C | |
17 | g.42901022T>G | CA399650856 | G6PC1 | c.146T>G (p.Ile49Ser) n.211T>G | |
17 | g.42901022T= | CA2260692897 | G6PC1 | c.146T= (p.Ile49=) n.211T= | |
17 | g.42901023C>A | CA500229368 | G6PC1 | c.147C>A (p.Ile49=) n.212C>A | gnomAD v4 |
17 | g.42901023C= | CA2260692898 | G6PC1 | c.147C= (p.Ile49=) n.212C= | |
17 | g.42901023C>G | CA399650858 | G6PC1 | c.147C>G (p.Ile49Met) n.212C>G |