Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.189563937G>A | CA349987841 | SLC40A1 | c.1049C>T (p.Ala350Val) c.929C>T (p.Ala310Val) | ClinVar dbSNP |
2 | g.189563937G>C | CA349987839 | SLC40A1 | c.1049C>G (p.Ala350Gly) c.929C>G (p.Ala310Gly) | |
2 | g.189563937G= | CA1315654198 | SLC40A1 | c.1049C= (p.Ala350=) c.929C= (p.Ala310=) | |
2 | g.189563937G>T | CA349987840 | SLC40A1 | c.1049C>A (p.Ala350Asp) c.929C>A (p.Ala310Asp) | ClinVar dbSNP |
2 | g.189563938C>A | CA349987842 | SLC40A1 | c.1048G>T (p.Ala350Ser) c.928G>T (p.Ala310Ser) | gnomAD v4 |
2 | g.189563938C>G | CA349987843 | SLC40A1 | c.1048G>C (p.Ala350Pro) c.928G>C (p.Ala310Pro) | |
2 | g.189563938C>T | CA349987844 | SLC40A1 | c.1048G>A (p.Ala350Thr) c.928G>A (p.Ala310Thr) | ClinVar dbSNP |
2 | g.189563939T>A | CA430502977 | SLC40A1 | c.1047A>T (p.Ser349=) c.927A>T (p.Ser309=) | |
2 | g.189563939T>C | CA430502978 | SLC40A1 | c.1047A>G (p.Ser349=) c.927A>G (p.Ser309=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563939T>G | CA430502979 | SLC40A1 | c.1047A>C (p.Ser349=) c.927A>C (p.Ser309=) | |
2 | g.189563939T= | CA1315654201 | SLC40A1 | c.1047A= (p.Ser349=) c.927A= (p.Ser309=) | |
2 | g.189563940G>A | CA349987845 | SLC40A1 | c.1046C>T (p.Ser349Leu) c.926C>T (p.Ser309Leu) | |
2 | g.189563940G>C | CA349987846 | SLC40A1 | c.1046C>G (p.Ser349Ter) c.926C>G (p.Ser309Ter) | |
2 | g.189563940G>T | CA349987847 | SLC40A1 | c.1046C>A (p.Ser349Ter) c.926C>A (p.Ser309Ter) | |
2 | g.189563941A>C | CA349987848 | SLC40A1 | c.1045T>G (p.Ser349Ala) c.925T>G (p.Ser309Ala) | |
2 | g.189563941A>G | CA349987849 | SLC40A1 | c.1045T>C (p.Ser349Pro) c.925T>C (p.Ser309Pro) | |
2 | g.189563941A>T | CA349987850 | SLC40A1 | c.1045T>A (p.Ser349Thr) c.925T>A (p.Ser309Thr) | |
2 | g.189563942T>A | CA430502983 | SLC40A1 | c.1044A>T (p.Ala348=) c.924A>T (p.Ala308=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563942T>C | CA430502984 | SLC40A1 | c.1044A>G (p.Ala348=) c.924A>G (p.Ala308=) | |
2 | g.189563942T>G | CA430502985 | SLC40A1 | c.1044A>C (p.Ala348=) c.924A>C (p.Ala308=) | |
2 | g.189563942T= | CA1315654203 | SLC40A1 | c.1044A= (p.Ala348=) c.924A= (p.Ala308=) | |
2 | g.189563943G>A | CA349987851 | SLC40A1 | c.1043C>T (p.Ala348Val) c.923C>T (p.Ala308Val) | |
2 | g.189563943G>C | CA349987852 | SLC40A1 | c.1043C>G (p.Ala348Gly) c.923C>G (p.Ala308Gly) | |
2 | g.189563943G>T | CA349987853 | SLC40A1 | c.1043C>A (p.Ala348Glu) c.923C>A (p.Ala308Glu) | |
2 | g.189563944C>A | CA349987856 | SLC40A1 | c.1042G>T (p.Ala348Ser) c.922G>T (p.Ala308Ser) | |
2 | g.189563944C= | CA1315654205 | SLC40A1 | c.1042G= (p.Ala348=) c.922G= (p.Ala308=) | |
2 | g.189563944C>G | CA349987855 | SLC40A1 | c.1042G>C (p.Ala348Pro) c.922G>C (p.Ala308Pro) | |
2 | g.189563944C>T | CA349987854 | SLC40A1 | c.1042G>A (p.Ala348Thr) c.922G>A (p.Ala308Thr) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563945T>A | CA430502989 | SLC40A1 | c.1041A>T (p.Gly347=) c.921A>T (p.Gly307=) | |
2 | g.189563945T>C | CA430502990 | SLC40A1 | c.1041A>G (p.Gly347=) c.921A>G (p.Gly307=) | gnomAD v4 |
2 | g.189563945T>G | CA430502991 | SLC40A1 | c.1041A>C (p.Gly347=) c.921A>C (p.Gly307=) | |
2 | g.189563946C>A | CA349987858 | SLC40A1 | c.1040G>T (p.Gly347Val) c.920G>T (p.Gly307Val) | |
2 | g.189563946C>G | CA349987857 | SLC40A1 | c.1040G>C (p.Gly347Ala) c.920G>C (p.Gly307Ala) | gnomAD v4 |
2 | g.189563946C>T | CA349987859 | SLC40A1 | c.1040G>A (p.Gly347Glu) c.920G>A (p.Gly307Glu) | |
2 | g.189563947C>A | CA349987860 | SLC40A1 | c.1039G>T (p.Gly347Ter) c.919G>T (p.Gly307Ter) | |
2 | g.189563947C>G | CA349987862 | SLC40A1 | c.1039G>C (p.Gly347Arg) c.919G>C (p.Gly307Arg) | |
2 | g.189563947C>T | CA349987861 | SLC40A1 | c.1039G>A (p.Gly347Arg) c.919G>A (p.Gly307Arg) | |
2 | g.189563948C>A | CA349987863 | SLC40A1 | c.1038G>T (p.Met346Ile) c.918G>T (p.Met306Ile) | |
2 | g.189563948C= | CA1315654207 | SLC40A1 | c.1038G= (p.Met346=) c.918G= (p.Met306=) | |
2 | g.189563948C>G | CA349987864 | SLC40A1 | c.1038G>C (p.Met346Ile) c.918G>C (p.Met306Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563948C>T | CA349987865 | SLC40A1 | c.1038G>A (p.Met346Ile) c.918G>A (p.Met306Ile) | COSMIC |
2 | g.189563949A= | CA1315654210 | SLC40A1 | c.1037T= (p.Met346=) c.917T= (p.Met306=) | |
2 | g.189563949A>C | CA349987866 | SLC40A1 | c.1037T>G (p.Met346Arg) c.917T>G (p.Met306Arg) | |
2 | g.189563949A>G | CA2024126 | SLC40A1 | c.1037T>C (p.Met346Thr) c.917T>C (p.Met306Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189563949A>T | CA349987867 | SLC40A1 | c.1037T>A (p.Met346Lys) c.917T>A (p.Met306Lys) | |
2 | g.189563950T>A | CA349987868 | SLC40A1 | c.1036A>T (p.Met346Leu) c.916A>T (p.Met306Leu) | |
2 | g.189563950T>C | CA349987869 | SLC40A1 | c.1036A>G (p.Met346Val) c.916A>G (p.Met306Val) | |
2 | g.189563950T>G | CA349987870 | SLC40A1 | c.1036A>C (p.Met346Leu) c.916A>C (p.Met306Leu) | |
2 | g.189563950_189563951insA | CA2753593828 | SLC40A1 | c.1035_1036insT (p.Met346TyrfsTer?) c.915_916insT (p.Met306TyrfsTer?) | |
2 | g.189563951C>A | CA349987871 | SLC40A1 | c.1035G>T (p.Leu345Phe) c.915G>T (p.Leu305Phe) | ClinVar gnomAD v4 |