Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
2 | g.189563951C= | CA1315654212 | SLC40A1 | c.1035G= (p.Leu345=) c.915G= (p.Leu305=) | |
2 | g.189563951C>G | CA349987872 | SLC40A1 | c.1035G>C (p.Leu345Phe) c.915G>C (p.Leu305Phe) | ClinVar dbSNP gnomAD v4 |
2 | g.189563951C>T | CA430502998 | SLC40A1 | c.1035G>A (p.Leu345=) c.915G>A (p.Leu305=) | ClinVar dbSNP gnomAD v4 |
2 | g.189563952A>C | CA349987875 | SLC40A1 | c.1034T>G (p.Leu345Trp) c.914T>G (p.Leu305Trp) | |
2 | g.189563952A>G | CA349987873 | SLC40A1 | c.1034T>C (p.Leu345Ser) c.914T>C (p.Leu305Ser) | |
2 | g.189563952A>T | CA349987874 | SLC40A1 | c.1034T>A (p.Leu345Ter) c.914T>A (p.Leu305Ter) | |
2 | g.189563953A= | CA1315654216 | SLC40A1 | c.1033T= (p.Leu345=) c.913T= (p.Leu305=) | |
2 | g.189563953A>C | CA349987876 | SLC40A1 | c.1033T>G (p.Leu345Val) c.913T>G (p.Leu305Val) | |
2 | g.189563953A>G | CA430503000 | SLC40A1 | c.1033T>C (p.Leu345=) c.913T>C (p.Leu305=) | dbSNP |
2 | g.189563953A>T | CA349987877 | SLC40A1 | c.1033T>A (p.Leu345Met) c.913T>A (p.Leu305Met) | |
2 | g.189563954A>C | CA349987878 | SLC40A1 | c.1032T>G (p.Ile344Met) c.912T>G (p.Ile304Met) | |
2 | g.189563954A>G | CA430503001 | SLC40A1 | c.1032T>C (p.Ile344=) c.912T>C (p.Ile304=) | |
2 | g.189563954A>T | CA430503002 | SLC40A1 | c.1032T>A (p.Ile344=) c.912T>A (p.Ile304=) | |
2 | g.189563955A>C | CA349987879 | SLC40A1 | c.1031T>G (p.Ile344Ser) c.911T>G (p.Ile304Ser) | |
2 | g.189563955A>G | CA349987880 | SLC40A1 | c.1031T>C (p.Ile344Thr) c.911T>C (p.Ile304Thr) | gnomAD v4 |
2 | g.189563955A>T | CA349987881 | SLC40A1 | c.1031T>A (p.Ile344Asn) c.911T>A (p.Ile304Asn) | |
2 | g.189563956T>A | CA349987882 | SLC40A1 | c.1030A>T (p.Ile344Phe) c.910A>T (p.Ile304Phe) | |
2 | g.189563956T>C | CA349987883 | SLC40A1 | c.1030A>G (p.Ile344Val) c.910A>G (p.Ile304Val) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189563956T>G | CA349987884 | SLC40A1 | c.1030A>C (p.Ile344Leu) c.910A>C (p.Ile304Leu) | |
2 | g.189563956T= | CA1315654218 | SLC40A1 | c.1030A= (p.Ile344=) c.910A= (p.Ile304=) | |
2 | g.189563957A>C | CA349987885 | SLC40A1 | c.1029T>G (p.Ser343Arg) c.909T>G (p.Ser303Arg) | |
2 | g.189563957A>G | CA430503007 | SLC40A1 | c.1029T>C (p.Ser343=) c.909T>C (p.Ser303=) | |
2 | g.189563957A>T | CA349987886 | SLC40A1 | c.1029T>A (p.Ser343Arg) c.909T>A (p.Ser303Arg) | |
2 | g.189563958C>A | CA349987888 | SLC40A1 | c.1028G>T (p.Ser343Ile) c.908G>T (p.Ser303Ile) | |
2 | g.189563958C>G | CA349987889 | SLC40A1 | c.1028G>C (p.Ser343Thr) c.908G>C (p.Ser303Thr) | |
2 | g.189563958C>T | CA349987887 | SLC40A1 | c.1028G>A (p.Ser343Asn) c.908G>A (p.Ser303Asn) | |
2 | g.189563959T>A | CA349987890 | SLC40A1 | c.1027A>T (p.Ser343Cys) c.907A>T (p.Ser303Cys) | |
2 | g.189563959T>C | CA2024127 | SLC40A1 | c.1027A>G (p.Ser343Gly) c.907A>G (p.Ser303Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.189563959T>G | CA349987891 | SLC40A1 | c.1027A>C (p.Ser343Arg) c.907A>C (p.Ser303Arg) | gnomAD v4 |
2 | g.189563959T= | CA1315654221 | SLC40A1 | c.1027A= (p.Ser343=) c.907A= (p.Ser303=) | |
2 | g.189563960G>A | CA430503009 | SLC40A1 | c.1026C>T (p.Leu342=) c.906C>T (p.Leu302=) | COSMIC |
2 | g.189563960G>C | CA430503010 | SLC40A1 | c.1026C>G (p.Leu342=) c.906C>G (p.Leu302=) | |
2 | g.189563960G>T | CA430503011 | SLC40A1 | c.1026C>A (p.Leu342=) c.906C>A (p.Leu302=) | |
2 | g.189563961A>C | CA349987892 | SLC40A1 | c.1025T>G (p.Leu342Arg) c.905T>G (p.Leu302Arg) | |
2 | g.189563961A>G | CA349987893 | SLC40A1 | c.1025T>C (p.Leu342Pro) c.905T>C (p.Leu302Pro) | |
2 | g.189563961A>T | CA349987894 | SLC40A1 | c.1025T>A (p.Leu342His) c.905T>A (p.Leu302His) | |
2 | g.189563962G>A | CA62902900 | SLC40A1 | c.1024C>T (p.Leu342Phe) c.904C>T (p.Leu302Phe) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563962G>C | CA349987895 | SLC40A1 | c.1024C>G (p.Leu342Val) c.904C>G (p.Leu302Val) | gnomAD v4 |
2 | g.189563962G= | CA1315654228 | SLC40A1 | c.1024C= (p.Leu342=) c.904C= (p.Leu302=) | |
2 | g.189563962G>T | CA349987896 | SLC40A1 | c.1024C>A (p.Leu342Ile) c.904C>A (p.Leu302Ile) | |
2 | g.189563963G>A | CA430503013 | SLC40A1 | c.1023C>T (p.Ile341=) c.903C>T (p.Ile301=) | gnomAD v4 |
2 | g.189563963G>C | CA349987897 | SLC40A1 | c.1023C>G (p.Ile341Met) c.903C>G (p.Ile301Met) | |
2 | g.189563963G>T | CA430503015 | SLC40A1 | c.1023C>A (p.Ile341=) c.903C>A (p.Ile301=) | |
2 | g.189563964A>C | CA349987898 | SLC40A1 | c.1022T>G (p.Ile341Ser) c.902T>G (p.Ile301Ser) | |
2 | g.189563964A>G | CA349987899 | SLC40A1 | c.1022T>C (p.Ile341Thr) c.902T>C (p.Ile301Thr) | gnomAD v4 |
2 | g.189563964A>T | CA349987900 | SLC40A1 | c.1022T>A (p.Ile341Asn) c.902T>A (p.Ile301Asn) | |
2 | g.189563965T>A | CA349987903 | SLC40A1 | c.1021A>T (p.Ile341Phe) c.901A>T (p.Ile301Phe) | COSMIC |
2 | g.189563965T>C | CA349987902 | SLC40A1 | c.1021A>G (p.Ile341Val) c.901A>G (p.Ile301Val) | COSMIC |
2 | g.189563965T>G | CA349987901 | SLC40A1 | c.1021A>C (p.Ile341Leu) c.901A>C (p.Ile301Leu) | |
2 | g.189563966G>A | CA430503017 | SLC40A1 | c.1020C>T (p.Ser340=) c.900C>T (p.Ser300=) | dbSNP |
2 | g.189563966G>C | CA430503018 | SLC40A1 | c.1020C>G (p.Ser340=) c.900C>G (p.Ser300=) | |
2 | g.189563966G= | CA1315654234 | SLC40A1 | c.1020C= (p.Ser340=) c.900C= (p.Ser300=) | |
2 | g.189563966G>T | CA430503019 | SLC40A1 | c.1020C>A (p.Ser340=) c.900C>A (p.Ser300=) | |
2 | g.189563967G>A | CA349987904 | SLC40A1 | c.1019C>T (p.Ser340Phe) c.899C>T (p.Ser300Phe) | |
2 | g.189563967G>C | CA349987905 | SLC40A1 | c.1019C>G (p.Ser340Cys) c.899C>G (p.Ser300Cys) | |
2 | g.189563967G>T | CA349987906 | SLC40A1 | c.1019C>A (p.Ser340Tyr) c.899C>A (p.Ser300Tyr) | |
2 | g.189563968A>C | CA349987907 | SLC40A1 | c.1018T>G (p.Ser340Ala) c.898T>G (p.Ser300Ala) | |
2 | g.189563968A>G | CA349987908 | SLC40A1 | c.1018T>C (p.Ser340Pro) c.898T>C (p.Ser300Pro) | |
2 | g.189563968A>T | CA349987909 | SLC40A1 | c.1018T>A (p.Ser340Thr) c.898T>A (p.Ser300Thr) | |
2 | g.189563969A= | CA1315654237 | SLC40A1 | c.1017T= (p.Gly339=) c.897T= (p.Gly299=) | |
2 | g.189563969A>C | CA430503022 | SLC40A1 | c.1017T>G (p.Gly339=) c.897T>G (p.Gly299=) | |
2 | g.189563969A>G | CA430503021 | SLC40A1 | c.1017T>C (p.Gly339=) c.897T>C (p.Gly299=) | |
2 | g.189563969A>T | CA2024128 | SLC40A1 | c.1017T>A (p.Gly339=) c.897T>A (p.Gly299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563970C>A | CA349987910 | SLC40A1 | c.1016G>T (p.Gly339Val) c.896G>T (p.Gly299Val) | |
2 | g.189563970C>G | CA349987911 | SLC40A1 | c.1016G>C (p.Gly339Ala) c.896G>C (p.Gly299Ala) | |
2 | g.189563970C>T | CA349987912 | SLC40A1 | c.1016G>A (p.Gly339Asp) c.896G>A (p.Gly299Asp) | |
2 | g.189563971C>A | CA349987913 | SLC40A1 | c.1015G>T (p.Gly339Cys) c.895G>T (p.Gly299Cys) | |
2 | g.189563971C>G | CA349987914 | SLC40A1 | c.1015G>C (p.Gly339Arg) c.895G>C (p.Gly299Arg) | |
2 | g.189563971C>T | CA349987915 | SLC40A1 | c.1015G>A (p.Gly339Ser) c.895G>A (p.Gly299Ser) | |
2 | g.189563972A= | CA1315654240 | SLC40A1 | c.1014T= (p.Ser338=) c.894T= (p.Ser298=) | |
2 | g.189563972A>C | CA349987916 | SLC40A1 | c.1014T>G (p.Ser338Arg) c.894T>G (p.Ser298Arg) | dbSNP gnomAD v4 |
2 | g.189563972A>G | CA430503024 | SLC40A1 | c.1014T>C (p.Ser338=) c.894T>C (p.Ser298=) | |
2 | g.189563972A>T | CA349987917 | SLC40A1 | c.1014T>A (p.Ser338Arg) c.894T>A (p.Ser298Arg) | |
2 | g.189563973C>A | CA349987918 | SLC40A1 | c.1013G>T (p.Ser338Ile) c.893G>T (p.Ser298Ile) | |
2 | g.189563973C= | CA1315654242 | SLC40A1 | c.1013G= (p.Ser338=) c.893G= (p.Ser298=) | |
2 | g.189563973C>G | CA349987920 | SLC40A1 | c.1013G>C (p.Ser338Thr) c.893G>C (p.Ser298Thr) | |
2 | g.189563973C>T | CA349987919 | SLC40A1 | c.1013G>A (p.Ser338Asn) c.893G>A (p.Ser298Asn) | dbSNP gnomAD v4 |
2 | g.189563974T>A | CA349987921 | SLC40A1 | c.1012A>T (p.Ser338Cys) c.892A>T (p.Ser298Cys) | |
2 | g.189563974T>C | CA349987922 | SLC40A1 | c.1012A>G (p.Ser338Gly) c.892A>G (p.Ser298Gly) | |
2 | g.189563974T>G | CA349987923 | SLC40A1 | c.1012A>C (p.Ser338Arg) c.892A>C (p.Ser298Arg) | |
2 | g.189563975C>A | CA430503025 | SLC40A1 | c.1011G>T (p.Leu337=) c.891G>T (p.Leu297=) | |
2 | g.189563975C>G | CA430503028 | SLC40A1 | c.1011G>C (p.Leu337=) c.891G>C (p.Leu297=) | |
2 | g.189563975C>T | CA430503027 | SLC40A1 | c.1011G>A (p.Leu337=) c.891G>A (p.Leu297=) | gnomAD v4 |
2 | g.189563976A>C | CA349987924 | SLC40A1 | c.1010T>G (p.Leu337Arg) c.890T>G (p.Leu297Arg) | |
2 | g.189563976A>G | CA349987925 | SLC40A1 | c.1010T>C (p.Leu337Pro) c.890T>C (p.Leu297Pro) | |
2 | g.189563976A>T | CA349987926 | SLC40A1 | c.1010T>A (p.Leu337Gln) c.890T>A (p.Leu297Gln) | |
2 | g.189563977G>A | CA430503030 | SLC40A1 | c.1009C>T (p.Leu337=) c.889C>T (p.Leu297=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563977G>C | CA2024129 | SLC40A1 | c.1009C>G (p.Leu337Val) c.889C>G (p.Leu297Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.189563977G= | CA1315654245 | SLC40A1 | c.1009C= (p.Leu337=) c.889C= (p.Leu297=) | |
2 | g.189563977G>T | CA349987927 | SLC40A1 | c.1009C>A (p.Leu337Met) c.889C>A (p.Leu297Met) | |
2 | g.189563978T>A | CA430503031 | SLC40A1 | c.1008A>T (p.Gly336=) c.888A>T (p.Gly296=) | |
2 | g.189563978T>C | CA430503032 | SLC40A1 | c.1008A>G (p.Gly336=) c.888A>G (p.Gly296=) | ClinVar dbSNP |
2 | g.189563978T>G | CA430503033 | SLC40A1 | c.1008A>C (p.Gly336=) c.888A>C (p.Gly296=) | gnomAD v4 |
2 | g.189563978T= | CA1315654251 | SLC40A1 | c.1008A= (p.Gly336=) c.888A= (p.Gly296=) | |
2 | g.189563979C>A | CA349987928 | SLC40A1 | c.1007G>T (p.Gly336Val) c.887G>T (p.Gly296Val) | gnomAD v4 |
2 | g.189563979C>G | CA349987929 | SLC40A1 | c.1007G>C (p.Gly336Ala) c.887G>C (p.Gly296Ala) | gnomAD v4 |
2 | g.189563979C>T | CA349987930 | SLC40A1 | c.1007G>A (p.Gly336Glu) c.887G>A (p.Gly296Glu) | |
2 | g.189563980C>A | CA349987933 | SLC40A1 | c.1006G>T (p.Gly336Ter) c.886G>T (p.Gly296Ter) | gnomAD v4 |
2 | g.189563980C>G | CA349987931 | SLC40A1 | c.1006G>C (p.Gly336Arg) c.886G>C (p.Gly296Arg) | |
2 | g.189563980C>T | CA349987932 | SLC40A1 | c.1006G>A (p.Gly336Arg) c.886G>A (p.Gly296Arg) | ClinVar |
2 | g.189563981C>A | CA349987934 | SLC40A1 | c.1005G>T (p.Gln335His) c.885G>T (p.Gln295His) | |
2 | g.189563981C= | CA1315654255 | SLC40A1 | c.1005G= (p.Gln335=) c.885G= (p.Gln295=) | |
2 | g.189563981C>G | CA349987935 | SLC40A1 | c.1005G>C (p.Gln335His) c.885G>C (p.Gln295His) | |
2 | g.189563981C>T | CA62902901 | SLC40A1 | c.1005G>A (p.Gln335=) c.885G>A (p.Gln295=) | ClinVar dbSNP |
2 | g.189563982T>A | CA349987936 | SLC40A1 | c.1004A>T (p.Gln335Leu) c.884A>T (p.Gln295Leu) | |
2 | g.189563982T>C | CA349987937 | SLC40A1 | c.1004A>G (p.Gln335Arg) c.884A>G (p.Gln295Arg) | dbSNP |
2 | g.189563982T>G | CA349987938 | SLC40A1 | c.1004A>C (p.Gln335Pro) c.884A>C (p.Gln295Pro) | |
2 | g.189563982T= | CA1315654258 | SLC40A1 | c.1004A= (p.Gln335=) c.884A= (p.Gln295=) | |
2 | g.189563983G>A | CA349987939 | SLC40A1 | c.1003C>T (p.Gln335Ter) c.883C>T (p.Gln295Ter) | COSMIC |
2 | g.189563983G>C | CA349987940 | SLC40A1 | c.1003C>G (p.Gln335Glu) c.883C>G (p.Gln295Glu) | |
2 | g.189563983G>T | CA349987941 | SLC40A1 | c.1003C>A (p.Gln335Lys) c.883C>A (p.Gln295Lys) | |
2 | g.189563984A>C | CA430503038 | SLC40A1 | c.1002T>G (p.Thr334=) c.882T>G (p.Thr294=) | |
2 | g.189563984A>G | CA430503039 | SLC40A1 | c.1002T>C (p.Thr334=) c.882T>C (p.Thr294=) | |
2 | g.189563984A>T | CA430503040 | SLC40A1 | c.1002T>A (p.Thr334=) c.882T>A (p.Thr294=) | |
2 | g.189563985G>A | CA349987942 | SLC40A1 | c.1001C>T (p.Thr334Ile) c.881C>T (p.Thr294Ile) | |
2 | g.189563985G>C | CA349987943 | SLC40A1 | c.1001C>G (p.Thr334Ser) c.881C>G (p.Thr294Ser) | |
2 | g.189563985G>T | CA349987944 | SLC40A1 | c.1001C>A (p.Thr334Asn) c.881C>A (p.Thr294Asn) | |
2 | g.189563986T>A | CA349987946 | SLC40A1 | c.1000A>T (p.Thr334Ser) c.880A>T (p.Thr294Ser) | |
2 | g.189563986T>C | CA349987947 | SLC40A1 | c.1000A>G (p.Thr334Ala) c.880A>G (p.Thr294Ala) | |
2 | g.189563986T>G | CA349987945 | SLC40A1 | c.1000A>C (p.Thr334Pro) c.880A>C (p.Thr294Pro) | |
2 | g.189563987G>A | CA430503042 | SLC40A1 | c.999C>T (p.Tyr333=) c.879C>T (p.Tyr293=) | gnomAD v4 |
2 | g.189563987G>C | CA349987948 | SLC40A1 | c.999C>G (p.Tyr333Ter) c.879C>G (p.Tyr293Ter) | |
2 | g.189563987G>T | CA349987949 | SLC40A1 | c.999C>A (p.Tyr333Ter) c.879C>A (p.Tyr293Ter) | |
2 | g.189563988T>A | CA349987950 | SLC40A1 | c.998A>T (p.Tyr333Phe) c.878A>T (p.Tyr293Phe) | |
2 | g.189563988T>C | CA349987951 | SLC40A1 | c.998A>G (p.Tyr333Cys) c.878A>G (p.Tyr293Cys) | |
2 | g.189563988T>G | CA349987952 | SLC40A1 | c.998A>C (p.Tyr333Ser) c.878A>C (p.Tyr293Ser) | |
2 | g.189563989A>C | CA349987955 | SLC40A1 | c.997T>G (p.Tyr333Asp) c.877T>G (p.Tyr293Asp) | |
2 | g.189563989A>G | CA349987954 | SLC40A1 | c.997T>C (p.Tyr333His) c.877T>C (p.Tyr293His) | |
2 | g.189563989A>T | CA349987953 | SLC40A1 | c.997T>A (p.Tyr333Asn) c.877T>A (p.Tyr293Asn) | gnomAD v4 |
2 | g.189563990G>A | CA430503046 | SLC40A1 | c.996C>T (p.Ala332=) c.876C>T (p.Ala292=) | |
2 | g.189563990G>C | CA430503048 | SLC40A1 | c.996C>G (p.Ala332=) c.876C>G (p.Ala292=) | |
2 | g.189563990G>T | CA430503044 | SLC40A1 | c.996C>A (p.Ala332=) c.876C>A (p.Ala292=) | |
2 | g.189563991G>A | CA349987956 | SLC40A1 | c.995C>T (p.Ala332Val) c.875C>T (p.Ala292Val) | |
2 | g.189563991G>C | CA349987957 | SLC40A1 | c.995C>G (p.Ala332Gly) c.875C>G (p.Ala292Gly) | |
2 | g.189563991G>T | CA349987958 | SLC40A1 | c.995C>A (p.Ala332Asp) c.875C>A (p.Ala292Asp) | |
2 | g.189563992C>A | CA349987959 | SLC40A1 | c.994G>T (p.Ala332Ser) c.874G>T (p.Ala292Ser) | |
2 | g.189563992C= | CA1315654260 | SLC40A1 | c.994G= (p.Ala332=) c.874G= (p.Ala292=) | |
2 | g.189563992C>G | CA349987960 | SLC40A1 | c.994G>C (p.Ala332Pro) c.874G>C (p.Ala292Pro) | |
2 | g.189563992C>T | CA349987961 | SLC40A1 | c.994G>A (p.Ala332Thr) c.874G>A (p.Ala292Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.189563993G>A | CA2024130 | SLC40A1 | c.993C>T (p.Tyr331=) c.873C>T (p.Tyr291=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.189563993G>C | CA349987963 | SLC40A1 | c.993C>G (p.Tyr331Ter) c.873C>G (p.Tyr291Ter) | |
2 | g.189563993G= | CA1315654263 | SLC40A1 | c.993C= (p.Tyr331=) c.873C= (p.Tyr291=) | |
2 | g.189563993G>T | CA349987962 | SLC40A1 | c.993C>A (p.Tyr331Ter) c.873C>A (p.Tyr291Ter) | |
2 | g.189563994T>A | CA349987964 | SLC40A1 | c.992A>T (p.Tyr331Phe) c.872A>T (p.Tyr291Phe) | |
2 | g.189563994T>C | CA349987965 | SLC40A1 | c.992A>G (p.Tyr331Cys) c.872A>G (p.Tyr291Cys) | |
2 | g.189563994T>G | CA349987966 | SLC40A1 | c.992A>C (p.Tyr331Ser) c.872A>C (p.Tyr291Ser) | |
2 | g.189563995A>C | CA349987967 | SLC40A1 | c.991T>G (p.Tyr331Asp) c.871T>G (p.Tyr291Asp) | |
2 | g.189563995A>G | CA349987968 | SLC40A1 | c.991T>C (p.Tyr331His) c.871T>C (p.Tyr291His) | COSMIC |
2 | g.189563995A>T | CA349987969 | SLC40A1 | c.991T>A (p.Tyr331Asn) c.871T>A (p.Tyr291Asn) | |
2 | g.189563996C>A | CA430503049 | SLC40A1 | c.990G>T (p.Gly330=) c.870G>T (p.Gly290=) | |
2 | g.189563996C= | CA1315654266 | SLC40A1 | c.990G= (p.Gly330=) c.870G= (p.Gly290=) | |
2 | g.189563996C>G | CA430503051 | SLC40A1 | c.990G>C (p.Gly330=) c.870G>C (p.Gly290=) | |
2 | g.189563996C>T | CA430503050 | SLC40A1 | c.990G>A (p.Gly330=) c.870G>A (p.Gly290=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189563997C>A | CA349987970 | SLC40A1 | c.989G>T (p.Gly330Val) c.869G>T (p.Gly290Val) | |
2 | g.189563997C>G | CA349987971 | SLC40A1 | c.989G>C (p.Gly330Ala) c.869G>C (p.Gly290Ala) | |
2 | g.189563997C>T | CA349987972 | SLC40A1 | c.989G>A (p.Gly330Glu) c.869G>A (p.Gly290Glu) | gnomAD v4 |
2 | g.189563998C>A | CA349987973 | SLC40A1 | c.988G>T (p.Gly330Trp) c.868G>T (p.Gly290Trp) | |
2 | g.189563998C>G | CA349987974 | SLC40A1 | c.988G>C (p.Gly330Arg) c.868G>C (p.Gly290Arg) | |
2 | g.189563998C>T | CA349987975 | SLC40A1 | c.988G>A (p.Gly330Arg) c.868G>A (p.Gly290Arg) | |
2 | g.189563999T>A | CA430503055 | SLC40A1 | c.987A>T (p.Thr329=) c.867A>T (p.Thr289=) | |
2 | g.189563999T>C | CA430503056 | SLC40A1 | c.987A>G (p.Thr329=) c.867A>G (p.Thr289=) | |
2 | g.189563999T>G | CA430503057 | SLC40A1 | c.987A>C (p.Thr329=) c.867A>C (p.Thr289=) | |
2 | g.189564000G>A | CA349987977 | SLC40A1 | c.986C>T (p.Thr329Ile) c.866C>T (p.Thr289Ile) | |
2 | g.189564000G>C | CA349987978 | SLC40A1 | c.986C>G (p.Thr329Arg) c.866C>G (p.Thr289Arg) | |
2 | g.189564000G>T | CA349987976 | SLC40A1 | c.986C>A (p.Thr329Lys) c.866C>A (p.Thr289Lys) | |
2 | g.189564001T>A | CA349987979 | SLC40A1 | c.985A>T (p.Thr329Ser) c.865A>T (p.Thr289Ser) | |
2 | g.189564001T>C | CA349987981 | SLC40A1 | c.985A>G (p.Thr329Ala) c.865A>G (p.Thr289Ala) | gnomAD v4 |
2 | g.189564001T>G | CA349987980 | SLC40A1 | c.985A>C (p.Thr329Pro) c.865A>C (p.Thr289Pro) | |
2 | g.189564002G>A | CA430503059 | SLC40A1 | c.984C>T (p.Thr328=) c.864C>T (p.Thr288=) | dbSNP gnomAD v4 |
2 | g.189564002G>C | CA430503060 | SLC40A1 | c.984C>G (p.Thr328=) c.864C>G (p.Thr288=) | |
2 | g.189564002G= | CA1315654268 | SLC40A1 | c.984C= (p.Thr328=) c.864C= (p.Thr288=) | |
2 | g.189564002G>T | CA430503061 | SLC40A1 | c.984C>A (p.Thr328=) c.864C>A (p.Thr288=) | |
2 | g.189564003G>A | CA349987982 | SLC40A1 | c.983C>T (p.Thr328Ile) c.863C>T (p.Thr288Ile) | gnomAD v4 |
2 | g.189564003G>C | CA349987984 | SLC40A1 | c.983C>G (p.Thr328Ser) c.863C>G (p.Thr288Ser) | |
2 | g.189564003G>T | CA349987983 | SLC40A1 | c.983C>A (p.Thr328Asn) c.863C>A (p.Thr288Asn) | gnomAD v4 |
2 | g.189564004T>A | CA349987985 | SLC40A1 | c.982A>T (p.Thr328Ser) c.862A>T (p.Thr288Ser) | |
2 | g.189564004T>C | CA62902902 | SLC40A1 | c.982A>G (p.Thr328Ala) c.862A>G (p.Thr288Ala) | dbSNP |
2 | g.189564004T>G | CA349987986 | SLC40A1 | c.982A>C (p.Thr328Pro) c.862A>C (p.Thr288Pro) | |
2 | g.189564004T= | CA1315654271 | SLC40A1 | c.982A= (p.Thr328=) c.862A= (p.Thr288=) | |
2 | g.189564005G>A | CA62902903 | SLC40A1 | c.981C>T (p.Ile327=) c.861C>T (p.Ile287=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.189564005G>C | CA349987987 | SLC40A1 | c.981C>G (p.Ile327Met) c.861C>G (p.Ile287Met) | |
2 | g.189564005G= | CA1315654274 | SLC40A1 | c.981C= (p.Ile327=) c.861C= (p.Ile287=) | |
2 | g.189564005G>T | CA430503063 | SLC40A1 | c.981C>A (p.Ile327=) c.861C>A (p.Ile287=) | |
2 | g.189564006A>C | CA349987988 | SLC40A1 | c.980T>G (p.Ile327Ser) c.860T>G (p.Ile287Ser) | |
2 | g.189564006A>G | CA349987989 | SLC40A1 | c.980T>C (p.Ile327Thr) c.860T>C (p.Ile287Thr) | |
2 | g.189564006A>T | CA349987990 | SLC40A1 | c.980T>A (p.Ile327Asn) c.860T>A (p.Ile287Asn) | |
2 | g.189564007T>A | CA349987991 | SLC40A1 | c.979A>T (p.Ile327Phe) c.859A>T (p.Ile287Phe) | |
2 | g.189564007T>C | CA349987992 | SLC40A1 | c.979A>G (p.Ile327Val) c.859A>G (p.Ile287Val) | ClinVar dbSNP gnomAD v4 |
2 | g.189564007T>G | CA349987993 | SLC40A1 | c.979A>C (p.Ile327Leu) c.859A>C (p.Ile287Leu) | |
2 | g.189564007T= | CA1315654277 | SLC40A1 | c.979A= (p.Ile327=) c.859A= (p.Ile287=) | |
2 | g.189564008G>A | CA430503065 | SLC40A1 | c.978C>T (p.Cys326=) c.858C>T (p.Cys286=) | |
2 | g.189564008G>C | CA349987995 | SLC40A1 | c.978C>G (p.Cys326Trp) c.858C>G (p.Cys286Trp) | |
2 | g.189564008G>T | CA349987994 | SLC40A1 | c.978C>A (p.Cys326Ter) c.858C>A (p.Cys286Ter) | |
2 | g.189564009C>A | CA349987996 | SLC40A1 | c.977G>T (p.Cys326Phe) c.857G>T (p.Cys286Phe) | ClinVar |
2 | g.189564009C= | CA1315654280 | SLC40A1 | c.977G= (p.Cys326=) c.857G= (p.Cys286=) | |
2 | g.189564009C>G | CA349987997 | SLC40A1 | c.977G>C (p.Cys326Ser) c.857G>C (p.Cys286Ser) | dbSNP |
2 | g.189564009C>T | CA349987998 | SLC40A1 | c.977G>A (p.Cys326Tyr) c.857G>A (p.Cys286Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.189564010A>C | CA349987999 | SLC40A1 | c.976T>G (p.Cys326Gly) c.856T>G (p.Cys286Gly) | |
2 | g.189564010A>G | CA349988000 | SLC40A1 | c.976T>C (p.Cys326Arg) c.856T>C (p.Cys286Arg) | |
2 | g.189564010A>T | CA349988001 | SLC40A1 | c.976T>A (p.Cys326Ser) c.856T>A (p.Cys286Ser) | |
2 | g.189564011G>A | CA430503068 | SLC40A1 | c.975C>T (p.Asp325=) c.855C>T (p.Asp285=) | dbSNP gnomAD v4 |
2 | g.189564011G>C | CA349988002 | SLC40A1 | c.975C>G (p.Asp325Glu) c.855C>G (p.Asp285Glu) | |
2 | g.189564011G= | CA1315654283 | SLC40A1 | c.975C= (p.Asp325=) c.855C= (p.Asp285=) | |
2 | g.189564011G>T | CA349988003 | SLC40A1 | c.975C>A (p.Asp325Glu) c.855C>A (p.Asp285Glu) | |
2 | g.189564012T>A | CA349988004 | SLC40A1 | c.974A>T (p.Asp325Val) c.854A>T (p.Asp285Val) | |
2 | g.189564012T>C | CA349988005 | SLC40A1 | c.974A>G (p.Asp325Gly) c.854A>G (p.Asp285Gly) | |
2 | g.189564012T>G | CA349988006 | SLC40A1 | c.974A>C (p.Asp325Ala) c.854A>C (p.Asp285Ala) | |
2 | g.189564013C>A | CA349988008 | SLC40A1 | c.973G>T (p.Asp325Tyr) c.853G>T (p.Asp285Tyr) | |
2 | g.189564013C>G | CA349988009 | SLC40A1 | c.973G>C (p.Asp325His) c.853G>C (p.Asp285His) | |
2 | g.189564013C>T | CA349988007 | SLC40A1 | c.973G>A (p.Asp325Asn) c.853G>A (p.Asp285Asn) | |
2 | g.189564014A>C | CA349988010 | SLC40A1 | c.972T>G (p.Phe324Leu) c.852T>G (p.Phe284Leu) | |
2 | g.189564014A>G | CA430503072 | SLC40A1 | c.972T>C (p.Phe324=) c.852T>C (p.Phe284=) | |
2 | g.189564014A>T | CA349988011 | SLC40A1 | c.972T>A (p.Phe324Leu) c.852T>A (p.Phe284Leu) | |
2 | g.189564015A= | CA1315654289 | SLC40A1 | c.971T= (p.Phe324=) c.851T= (p.Phe284=) | |
2 | g.189564015A>C | CA349988012 | SLC40A1 | c.971T>G (p.Phe324Cys) c.851T>G (p.Phe284Cys) | |
2 | g.189564015A>G | CA62902904 | SLC40A1 | c.971T>C (p.Phe324Ser) c.851T>C (p.Phe284Ser) | dbSNP |
2 | g.189564015A>T | CA349988013 | SLC40A1 | c.971T>A (p.Phe324Tyr) c.851T>A (p.Phe284Tyr) | |
2 | g.189564016A>C | CA349988014 | SLC40A1 | c.970T>G (p.Phe324Val) c.850T>G (p.Phe284Val) | COSMIC |
2 | g.189564016A>G | CA349988015 | SLC40A1 | c.970T>C (p.Phe324Leu) c.850T>C (p.Phe284Leu) | |
2 | g.189564016A>T | CA349988016 | SLC40A1 | c.970T>A (p.Phe324Ile) c.850T>A (p.Phe284Ile) | |
2 | g.189564017G>A | CA430503074 | SLC40A1 | c.969C>T (p.Gly323=) c.849C>T (p.Gly283=) | gnomAD v4 |
2 | g.189564017G>C | CA430503076 | SLC40A1 | c.969C>G (p.Gly323=) c.849C>G (p.Gly283=) | |
2 | g.189564017G>T | CA430503077 | SLC40A1 | c.969C>A (p.Gly323=) c.849C>A (p.Gly283=) | COSMIC |
2 | g.189564018C>A | CA117523 | SLC40A1 | c.968G>T (p.Gly323Val) c.848G>T (p.Gly283Val) | ClinVar dbSNP |
2 | g.189564018C= | CA1315654296 | SLC40A1 | c.968G= (p.Gly323=) c.848G= (p.Gly283=) | |
2 | g.189564018C>G | CA349988017 | SLC40A1 | c.968G>C (p.Gly323Ala) c.848G>C (p.Gly283Ala) | |
2 | g.189564018C>T | CA349988018 | SLC40A1 | c.968G>A (p.Gly323Asp) c.848G>A (p.Gly283Asp) | ClinVar dbSNP |
2 | g.189564019C>A | CA349988020 | SLC40A1 | c.967G>T (p.Gly323Cys) c.847G>T (p.Gly283Cys) | |
2 | g.189564019C>G | CA349988021 | SLC40A1 | c.967G>C (p.Gly323Arg) c.847G>C (p.Gly283Arg) | |
2 | g.189564019C>T | CA349988019 | SLC40A1 | c.967G>A (p.Gly323Ser) c.847G>A (p.Gly283Ser) | |
2 | g.189564020C>A | CA430503078 | SLC40A1 | c.966G>T (p.Leu322=) c.846G>T (p.Leu282=) | |
2 | g.189564020C= | CA1315654302 | SLC40A1 | c.966G= (p.Leu322=) c.846G= (p.Leu282=) | |
2 | g.189564020C>G | CA430503079 | SLC40A1 | c.966G>C (p.Leu322=) c.846G>C (p.Leu282=) | |
2 | g.189564020C>T | CA430503081 | SLC40A1 | c.966G>A (p.Leu322=) c.846G>A (p.Leu282=) | dbSNP |
2 | g.189564021A>C | CA349988022 | SLC40A1 | c.965T>G (p.Leu322Arg) c.845T>G (p.Leu282Arg) | |
2 | g.189564021A>G | CA349988023 | SLC40A1 | c.965T>C (p.Leu322Pro) c.845T>C (p.Leu282Pro) | |
2 | g.189564021A>T | CA349988024 | SLC40A1 | c.965T>A (p.Leu322Gln) c.845T>A (p.Leu282Gln) | |
2 | g.189564022G>A | CA430503082 | SLC40A1 | c.964C>T (p.Leu322=) c.844C>T (p.Leu282=) | |
2 | g.189564022G>C | CA349988025 | SLC40A1 | c.964C>G (p.Leu322Val) c.844C>G (p.Leu282Val) | |
2 | g.189564022G>T | CA349988026 | SLC40A1 | c.964C>A (p.Leu322Met) c.844C>A (p.Leu282Met) | |
2 | g.189564023G>A | CA430503086 | SLC40A1 | c.963C>T (p.Val321=) c.843C>T (p.Val281=) | |
2 | g.189564023G>C | CA430503088 | SLC40A1 | c.963C>G (p.Val321=) c.843C>G (p.Val281=) | |
2 | g.189564023G>T | CA430503087 | SLC40A1 | c.963C>A (p.Val321=) c.843C>A (p.Val281=) | |
2 | g.189564024A>C | CA349988029 | SLC40A1 | c.962T>G (p.Val321Gly) c.842T>G (p.Val281Gly) | |
2 | g.189564024A>G | CA349988027 | SLC40A1 | c.962T>C (p.Val321Ala) c.842T>C (p.Val281Ala) | |
2 | g.189564024A>T | CA349988028 | SLC40A1 | c.962T>A (p.Val321Asp) c.842T>A (p.Val281Asp) | |
2 | g.189564025C>A | CA349988030 | SLC40A1 | c.961G>T (p.Val321Phe) c.841G>T (p.Val281Phe) | |
2 | g.189564025C= | CA1315654305 | SLC40A1 | c.961G= (p.Val321=) c.841G= (p.Val281=) | |
2 | g.189564025C>G | CA349988031 | SLC40A1 | c.961G>C (p.Val321Leu) c.841G>C (p.Val281Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189564025C>T | CA349988032 | SLC40A1 | c.961G>A (p.Val321Ile) c.841G>A (p.Val281Ile) | |
2 | g.189564027_189564030dup | CA2577188084 | SLC40A1 | c.958_961dup (p.Val321AspfsTer6) c.838_841dup (p.Val281AspfsTer6) | |
2 | g.189564026A>C | CA430503091 | SLC40A1 | c.960T>G (p.Thr320=) c.840T>G (p.Thr280=) | |
2 | g.189564026A>G | CA430503092 | SLC40A1 | c.960T>C (p.Thr320=) c.840T>C (p.Thr280=) | |
2 | g.189564026A>T | CA430503093 | SLC40A1 | c.960T>A (p.Thr320=) c.840T>A (p.Thr280=) | |
2 | g.189564027G>A | CA349988033 | SLC40A1 | c.959C>T (p.Thr320Ile) c.839C>T (p.Thr280Ile) | dbSNP |
2 | g.189564027G>C | CA349988034 | SLC40A1 | c.959C>G (p.Thr320Ser) c.839C>G (p.Thr280Ser) | |
2 | g.189564027G= | CA1315654306 | SLC40A1 | c.959C= (p.Thr320=) c.839C= (p.Thr280=) | |
2 | g.189564027G>T | CA349988035 | SLC40A1 | c.959C>A (p.Thr320Asn) c.839C>A (p.Thr280Asn) | |
2 | g.189564028T>A | CA349988038 | SLC40A1 | c.958A>T (p.Thr320Ser) c.838A>T (p.Thr280Ser) | |
2 | g.189564028T>C | CA349988037 | SLC40A1 | c.958A>G (p.Thr320Ala) c.838A>G (p.Thr280Ala) | |
2 | g.189564028T>G | CA349988036 | SLC40A1 | c.958A>C (p.Thr320Pro) c.838A>C (p.Thr280Pro) | |
2 | g.189564028_189564029delinsTC | CA1315654310 | SLC40A1 | c.957_958delinsGA (p.Met319=) c.837_838delinsGA (p.Met279=) | |
2 | g.189564029del | CA913189702 | SLC40A1 | c.957del (p.Met319IlefsTer19) c.837del (p.Met279IlefsTer19) | ClinVar dbSNP |
2 | g.189564029C>A | CA349988041 | SLC40A1 | c.957G>T (p.Met319Ile) c.837G>T (p.Met279Ile) | |
2 | g.189564029C>G | CA349988039 | SLC40A1 | c.957G>C (p.Met319Ile) c.837G>C (p.Met279Ile) | |
2 | g.189564029C>T | CA349988040 | SLC40A1 | c.957G>A (p.Met319Ile) c.837G>A (p.Met279Ile) | ClinVar |
2 | g.189564030A>C | CA349988042 | SLC40A1 | c.956T>G (p.Met319Arg) c.836T>G (p.Met279Arg) | |
2 | g.189564030A>G | CA349988043 | SLC40A1 | c.956T>C (p.Met319Thr) c.836T>C (p.Met279Thr) | |
2 | g.189564030A>T | CA349988044 | SLC40A1 | c.956T>A (p.Met319Lys) c.836T>A (p.Met279Lys) | |
2 | g.189564031T>A | CA349988045 | SLC40A1 | c.955A>T (p.Met319Leu) c.835A>T (p.Met279Leu) | |
2 | g.189564031T>C | CA349988046 | SLC40A1 | c.955A>G (p.Met319Val) c.835A>G (p.Met279Val) | |
2 | g.189564031T>G | CA349988047 | SLC40A1 | c.955A>C (p.Met319Leu) c.835A>C (p.Met279Leu) | |
2 | g.189564032A= | CA1315654319 | SLC40A1 | c.954T= (p.Tyr318=) c.834T= (p.Tyr278=) | |
2 | g.189564032A>C | CA349988048 | SLC40A1 | c.954T>G (p.Tyr318Ter) c.834T>G (p.Tyr278Ter) | |
2 | g.189564032A>G | CA430503096 | SLC40A1 | c.954T>C (p.Tyr318=) c.834T>C (p.Tyr278=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.189564032A>T | CA349988049 | SLC40A1 | c.954T>A (p.Tyr318Ter) c.834T>A (p.Tyr278Ter) | |
2 | g.189564033T>A | CA349988050 | SLC40A1 | c.953A>T (p.Tyr318Phe) c.833A>T (p.Tyr278Phe) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.189564033T>C | CA349988051 | SLC40A1 | c.953A>G (p.Tyr318Cys) c.833A>G (p.Tyr278Cys) | gnomAD v4 |
2 | g.189564033T>G | CA349988052 | SLC40A1 | c.953A>C (p.Tyr318Ser) c.833A>C (p.Tyr278Ser) | |
2 | g.189564033T= | CA1315654321 | SLC40A1 | c.953A= (p.Tyr318=) c.833A= (p.Tyr278=) | |
2 | g.189564034A>C | CA349988055 | SLC40A1 | c.952T>G (p.Tyr318Asp) c.832T>G (p.Tyr278Asp) | |
2 | g.189564034A>G | CA349988054 | SLC40A1 | c.952T>C (p.Tyr318His) c.832T>C (p.Tyr278His) | |
2 | g.189564034A>T | CA349988053 | SLC40A1 | c.952T>A (p.Tyr318Asn) c.832T>A (p.Tyr278Asn) | |
2 | g.189564038_189564042del | CA2662328693 | SLC40A1 | c.948_952del (p.Phe316LeufsTer8) c.828_832del (p.Phe276LeufsTer8) | gnomAD v4 |
2 | g.189564034_189564035insC | CA2753593829 | SLC40A1 | c.951_952insG (p.Tyr318ValfsTer8) c.831_832insG (p.Tyr278ValfsTer8) | |
2 | g.189564035A>C | CA430502439 | SLC40A1 | c.951T>G (p.Leu317=) c.831T>G (p.Leu277=) | |
2 | g.189564035A>G | CA430502445 | SLC40A1 | c.951T>C (p.Leu317=) c.831T>C (p.Leu277=) | gnomAD v4 |
2 | g.189564035A>T | CA430502440 | SLC40A1 | c.951T>A (p.Leu317=) c.831T>A (p.Leu277=) | |
2 | g.189564036A>C | CA349988056 | SLC40A1 | c.950T>G (p.Leu317Arg) c.830T>G (p.Leu277Arg) | |
2 | g.189564036A>G | CA349988057 | SLC40A1 | c.950T>C (p.Leu317Pro) c.830T>C (p.Leu277Pro) | |
2 | g.189564036A>T | CA349988058 | SLC40A1 | c.950T>A (p.Leu317His) c.830T>A (p.Leu277His) | |
2 | g.189564037G>A | CA349988059 | SLC40A1 | c.949C>T (p.Leu317Phe) c.829C>T (p.Leu277Phe) | COSMIC |
2 | g.189564037G>C | CA349988060 | SLC40A1 | c.949C>G (p.Leu317Val) c.829C>G (p.Leu277Val) | |
2 | g.189564037G>T | CA349988061 | SLC40A1 | c.949C>A (p.Leu317Ile) c.829C>A (p.Leu277Ile) | |
2 | g.189564037_189564038del | CA2753593830 | SLC40A1 | c.948_949del (p.Met319AspfsTer6) c.828_829del (p.Met279AspfsTer6) | |
2 | g.189564038G>A | CA430502449 | SLC40A1 | c.948C>T (p.Phe316=) c.828C>T (p.Phe276=) | gnomAD v4 COSMIC |
2 | g.189564038G>C | CA349988062 | SLC40A1 | c.948C>G (p.Phe316Leu) c.828C>G (p.Phe276Leu) | |
2 | g.189564038G>T | CA349988063 | SLC40A1 | c.948C>A (p.Phe316Leu) c.828C>A (p.Phe276Leu) | |
2 | g.189564039A>C | CA349988064 | SLC40A1 | c.947T>G (p.Phe316Cys) c.827T>G (p.Phe276Cys) | |
2 | g.189564039A>G | CA349988065 | SLC40A1 | c.947T>C (p.Phe316Ser) c.827T>C (p.Phe276Ser) | |
2 | g.189564039A>T | CA349988066 | SLC40A1 | c.947T>A (p.Phe316Tyr) c.827T>A (p.Phe276Tyr) | |
2 | g.189564040A>C | CA349988067 | SLC40A1 | c.946T>G (p.Phe316Val) c.826T>G (p.Phe276Val) | |
2 | g.189564040A>G | CA349988068 | SLC40A1 | c.946T>C (p.Phe316Leu) c.826T>C (p.Phe276Leu) | |
2 | g.189564040A>T | CA349988069 | SLC40A1 | c.946T>A (p.Phe316Ile) c.826T>A (p.Phe276Ile) |