Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.42901023C>T | CA500229369 | G6PC1 | c.147C>T (p.Ile49=) n.212C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42901024T>A | CA399650860 | G6PC1 | c.148T>A (p.Trp50Arg) n.213T>A | |
17 | g.42901024T>C | CA399650862 | G6PC1 | c.148T>C (p.Trp50Arg) n.213T>C | |
17 | g.42901024T>G | CA399650864 | G6PC1 | c.148T>G (p.Trp50Gly) n.213T>G | gnomAD v4 |
17 | g.42901025G>A | CA399650872 | G6PC1 | c.149G>A (p.Trp50Ter) n.214G>A | gnomAD v4 |
17 | g.42901025G>C | CA399650870 | G6PC1 | c.149G>C (p.Trp50Ser) n.214G>C | |
17 | g.42901025G>T | CA399650867 | G6PC1 | c.149G>T (p.Trp50Leu) n.214G>T | |
17 | g.42901025_42901027delinsGGT | CA2260692899 | G6PC1 | c.149_151delinsGGT (p.Trp50=) n.214_216delinsGGT | |
17 | g.42901026G>A | CA399650873 | G6PC1 | c.150G>A (p.Trp50Ter) n.215G>A | |
17 | g.42901026G>C | CA399650874 | G6PC1 | c.150G>C (p.Trp50Cys) n.215G>C | |
17 | g.42901026G>T | CA399650876 | G6PC1 | c.150G>T (p.Trp50Cys) n.215G>T | gnomAD v4 |
17 | g.42901026_42901027del | CA16041842 | G6PC1 | c.150_151del (p.Trp50CysfsTer10) n.215_216del | ClinVar dbSNP gnomAD v4 |
17 | g.42901027T>A | CA399650882 | G6PC1 | c.151T>A (p.Phe51Ile) n.216T>A | |
17 | g.42901027T>C | CA399650887 | G6PC1 | c.151T>C (p.Phe51Leu) n.216T>C |