Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
17 | g.42901027T>G | CA399650889 | G6PC1 | c.151T>G (p.Phe51Val) n.216T>G | |
17 | g.42901028T>A | CA399650892 | G6PC1 | c.152T>A (p.Phe51Tyr) n.217T>A | |
17 | g.42901028T>C | CA399650896 | G6PC1 | c.152T>C (p.Phe51Ser) n.217T>C | COSMIC |
17 | g.42901028T>G | CA399650899 | G6PC1 | c.152T>G (p.Phe51Cys) n.217T>G | |
17 | g.42901029C>A | CA399650902 | G6PC1 | c.153C>A (p.Phe51Leu) n.218C>A | |
17 | g.42901029C>G | CA399650905 | G6PC1 | c.153C>G (p.Phe51Leu) n.218C>G | |
17 | g.42901029C>T | CA500229370 | G6PC1 | c.153C>T (p.Phe51=) n.218C>T | |
17 | g.42901030C>A | CA399650913 | G6PC1 | c.154C>A (p.His52Asn) n.219C>A | |
17 | g.42901030C>G | CA399650906 | G6PC1 | c.154C>G (p.His52Asp) n.219C>G | |
17 | g.42901030C>T | CA399650909 | G6PC1 | c.154C>T (p.His52Tyr) n.219C>T | |
17 | g.42901031A= | CA2260692900 | G6PC1 | c.155A= (p.His52=) n.220A= | |
17 | g.42901031A>C | CA399650919 | G6PC1 | c.155A>C (p.His52Pro) n.220A>C | |
17 | g.42901031A>G | CA399650923 | G6PC1 | c.155A>G (p.His52Arg) n.220A>G | dbSNP |
17 | g.42901031A>T | CA399650927 | G6PC1 | c.155A>T (p.His52Leu) n.220A>T | ClinVar |
17 | g.42901032T>A | CA290783742 | G6PC1 | c.156T>A (p.His52Gln) n.221T>A | dbSNP |
17 | g.42901032T>C | CA500229371 | G6PC1 | c.156T>C (p.His52=) n.221T>C | ClinVar gnomAD v4 |
17 | g.42901032T>G | CA399650933 | G6PC1 | c.156T>G (p.His52Gln) n.221T>G | |
17 | g.42901032T= | CA2260692901 | G6PC1 | c.156T= (p.His52=) n.221T= | |
17 | g.42901036_42901100dup | CA2499224334 | G6PC1 | c.160_224dup (p.Lys76ArgfsTer11) n.225_289dup | ClinVar dbSNP |
17 | g.42901033C>A | CA399650937 | G6PC1 | c.157C>A (p.Leu53Ile) n.222C>A | |
17 | g.42901033C>G | CA399650939 | G6PC1 | c.157C>G (p.Leu53Val) n.222C>G | |
17 | g.42901033C>T | CA399650949 | G6PC1 | c.157C>T (p.Leu53Phe) n.222C>T | gnomAD v4 |
17 | g.42901034T>A | CA399650952 | G6PC1 | c.158T>A (p.Leu53His) n.223T>A | |
17 | g.42901034T>C | CA399650954 | G6PC1 | c.158T>C (p.Leu53Pro) n.223T>C | gnomAD v4 |
17 | g.42901034T>G | CA399650957 | G6PC1 | c.158T>G (p.Leu53Arg) n.223T>G | |
17 | g.42901035T>A | CA500229374 | G6PC1 | c.159T>A (p.Leu53=) n.224T>A | |
17 | g.42901035T>C | CA500229372 | G6PC1 | c.159T>C (p.Leu53=) n.224T>C | |
17 | g.42901035T>G | CA500229373 | G6PC1 | c.159T>G (p.Leu53=) n.224T>G | |
17 | g.42901036C>A | CA399650961 | G6PC1 | c.160C>A (p.Gln54Lys) n.225C>A |