Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.102267912_102267964del | CA2504066873 | SLC39A8 | c.981_1033del (p.Trp327CysfsTer3) c.956_1008del (p.Gly319ValfsTer7) c.*1102_*1154del (n.*1102_*1154del) c.*1077_*1129del (n.*1077_*1129del) n.889_941del c.360_412del (p.Trp120CysfsTer3) c.*631_*683del (n.*631_*683del) c.*170_*222del (n.*170_*222del) c.755_807del (p.Gly252ValfsTer7) c.314_366del (p.Gly105ValfsTer7) | |
4 | g.102267942G>A | CA440807898 | SLC39A8 | c.1003C>T (p.His335Tyr) c.978C>T (p.Cys326=) c.*1124C>T (n.*1124C>T) c.*1099C>T (n.*1099C>T) n.911C>T c.382C>T (p.His128Tyr) c.*653C>T (n.*653C>T) c.*192C>T (n.*192C>T) c.777C>T (p.Cys259=) c.336C>T (p.Cys112=) | |
4 | g.102267942G>C | CA357749946 | SLC39A8 | c.1003C>G (p.His335Asp) c.978C>G (p.Cys326Trp) c.*1124C>G (n.*1124C>G) c.*1099C>G (n.*1099C>G) n.911C>G c.382C>G (p.His128Asp) c.*653C>G (n.*653C>G) c.*192C>G (n.*192C>G) c.777C>G (p.Cys259Trp) c.336C>G (p.Cys112Trp) | |
4 | g.102267942G= | CA1481301235 | SLC39A8 | c.1003C= (p.His335=) c.978C= (p.Cys326=) c.*1124C= (n.*1124C=) c.*1099C= (n.*1099C=) n.911C= c.382C= (p.His128=) c.*653C= (n.*653C=) c.*192C= (n.*192C=) c.777C= (p.Cys259=) c.336C= (p.Cys112=) | |
4 | g.102267942G>T | CA16604535 | SLC39A8 | c.1003C>A (p.His335Asn) c.978C>A (p.Cys326Ter) c.*1124C>A (n.*1124C>A) c.*1099C>A (n.*1099C>A) n.911C>A c.382C>A (p.His128Asn) c.*653C>A (n.*653C>A) c.*192C>A (n.*192C>A) c.777C>A (p.Cys259Ter) c.336C>A (p.Cys112Ter) | ClinVar dbSNP |
4 | g.102267943C>A | CA357749947 | SLC39A8 | c.1002G>T (p.Leu334=) c.977G>T (p.Cys326Phe) c.*1123G>T (n.*1123G>T) c.*1098G>T (n.*1098G>T) n.910G>T c.381G>T (p.Leu127=) c.*652G>T (n.*652G>T) c.*191G>T (n.*191G>T) c.776G>T (p.Cys259Phe) c.335G>T (p.Cys112Phe) | |
4 | g.102267943C= | CA1481301236 | SLC39A8 | c.1002G= (p.Leu334=) c.977G= (p.Cys326=) c.*1123G= (n.*1123G=) c.*1098G= (n.*1098G=) n.910G= c.381G= (p.Leu127=) c.*652G= (n.*652G=) c.*191G= (n.*191G=) c.776G= (p.Cys259=) c.335G= (p.Cys112=) | |
4 | g.102267943C>G | CA357749948 | SLC39A8 | c.1002G>C (p.Leu334=) c.977G>C (p.Cys326Ser) c.*1123G>C (n.*1123G>C) c.*1098G>C (n.*1098G>C) n.910G>C c.381G>C (p.Leu127=) c.*652G>C (n.*652G>C) c.*191G>C (n.*191G>C) c.776G>C (p.Cys259Ser) c.335G>C (p.Cys112Ser) | |
4 | g.102267943C>T | CA357749949 | SLC39A8 | c.1002G>A (p.Leu334=) c.977G>A (p.Cys326Tyr) c.*1123G>A (n.*1123G>A) c.*1098G>A (n.*1098G>A) n.910G>A c.381G>A (p.Leu127=) c.*652G>A (n.*652G>A) c.*191G>A (n.*191G>A) c.776G>A (p.Cys259Tyr) c.335G>A (p.Cys112Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267944A= | CA1481301237 | SLC39A8 | c.1001T= (p.Leu334=) c.976T= (p.Cys326=) c.*1122T= (n.*1122T=) c.*1097T= (n.*1097T=) n.909T= c.380T= (p.Leu127=) c.*651T= (n.*651T=) c.*190T= (n.*190T=) c.775T= (p.Cys259=) c.334T= (p.Cys112=) | |
4 | g.102267944A>C | CA357749950 | SLC39A8 | c.1001T>G (p.Leu334Arg) c.976T>G (p.Cys326Gly) c.*1122T>G (n.*1122T>G) c.*1097T>G (n.*1097T>G) n.909T>G c.380T>G (p.Leu127Arg) c.*651T>G (n.*651T>G) c.*190T>G (n.*190T>G) c.775T>G (p.Cys259Gly) c.334T>G (p.Cys112Gly) | |
4 | g.102267944A>G | CA357749951 | SLC39A8 | c.1001T>C (p.Leu334Pro) c.976T>C (p.Cys326Arg) c.*1122T>C (n.*1122T>C) c.*1097T>C (n.*1097T>C) n.909T>C c.380T>C (p.Leu127Pro) c.*651T>C (n.*651T>C) c.*190T>C (n.*190T>C) c.775T>C (p.Cys259Arg) c.334T>C (p.Cys112Arg) | |
4 | g.102267944A>T | CA357749952 | SLC39A8 | c.1001T>A (p.Leu334Gln) c.976T>A (p.Cys326Ser) c.*1122T>A (n.*1122T>A) c.*1097T>A (n.*1097T>A) n.909T>A c.380T>A (p.Leu127Gln) c.*651T>A (n.*651T>A) c.*190T>A (n.*190T>A) c.775T>A (p.Cys259Ser) c.334T>A (p.Cys112Ser) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.102267945G>A | CA440807899 | SLC39A8 | c.1000C>T (p.Leu334=) c.975C>T (p.Ser325=) c.*1121C>T (n.*1121C>T) c.*1096C>T (n.*1096C>T) n.908C>T c.379C>T (p.Leu127=) c.*650C>T (n.*650C>T) c.*189C>T (n.*189C>T) c.774C>T (p.Ser258=) c.333C>T (p.Ser111=) | dbSNP gnomAD v4 |
4 | g.102267945G>C | CA440807901 | SLC39A8 | c.1000C>G (p.Leu334Val) c.975C>G (p.Ser325=) c.*1121C>G (n.*1121C>G) c.*1096C>G (n.*1096C>G) n.908C>G c.379C>G (p.Leu127Val) c.*650C>G (n.*650C>G) c.*189C>G (n.*189C>G) c.774C>G (p.Ser258=) c.333C>G (p.Ser111=) | |
4 | g.102267945G= | CA1481301238 | SLC39A8 | c.1000C= (p.Leu334=) c.975C= (p.Ser325=) c.*1121C= (n.*1121C=) c.*1096C= (n.*1096C=) n.908C= c.379C= (p.Leu127=) c.*650C= (n.*650C=) c.*189C= (n.*189C=) c.774C= (p.Ser258=) c.333C= (p.Ser111=) | |
4 | g.102267945G>T | CA440807902 | SLC39A8 | c.1000C>A (p.Leu334Met) c.975C>A (p.Ser325=) c.*1121C>A (n.*1121C>A) c.*1096C>A (n.*1096C>A) n.908C>A c.379C>A (p.Leu127Met) c.*650C>A (n.*650C>A) c.*189C>A (n.*189C>A) c.774C>A (p.Ser258=) c.333C>A (p.Ser111=) | |
4 | g.102267946G>A | CA357749953 | SLC39A8 | c.999C>T (p.Phe333=) c.974C>T (p.Ser325Phe) c.*1120C>T (n.*1120C>T) c.*1095C>T (n.*1095C>T) n.907C>T c.378C>T (p.Phe126=) c.*649C>T (n.*649C>T) c.*188C>T (n.*188C>T) c.773C>T (p.Ser258Phe) c.332C>T (p.Ser111Phe) | |
4 | g.102267946G>C | CA357749954 | SLC39A8 | c.999C>G (p.Phe333Leu) c.974C>G (p.Ser325Cys) c.*1120C>G (n.*1120C>G) c.*1095C>G (n.*1095C>G) n.907C>G c.378C>G (p.Phe126Leu) c.*649C>G (n.*649C>G) c.*188C>G (n.*188C>G) c.773C>G (p.Ser258Cys) c.332C>G (p.Ser111Cys) | |
4 | g.102267946G>T | CA357749955 | SLC39A8 | c.999C>A (p.Phe333Leu) c.974C>A (p.Ser325Tyr) c.*1120C>A (n.*1120C>A) c.*1095C>A (n.*1095C>A) n.907C>A c.378C>A (p.Phe126Leu) c.*649C>A (n.*649C>A) c.*188C>A (n.*188C>A) c.773C>A (p.Ser258Tyr) c.332C>A (p.Ser111Tyr) | |
4 | g.102267947A>C | CA357749956 | SLC39A8 | c.998T>G (p.Phe333Cys) c.973T>G (p.Ser325Ala) c.*1119T>G (n.*1119T>G) c.*1094T>G (n.*1094T>G) n.906T>G c.377T>G (p.Phe126Cys) c.*648T>G (n.*648T>G) c.*187T>G (n.*187T>G) c.772T>G (p.Ser258Ala) c.331T>G (p.Ser111Ala) | |
4 | g.102267947A>G | CA357749958 | SLC39A8 | c.998T>C (p.Phe333Ser) c.973T>C (p.Ser325Pro) c.*1119T>C (n.*1119T>C) c.*1094T>C (n.*1094T>C) n.906T>C c.377T>C (p.Phe126Ser) c.*648T>C (n.*648T>C) c.*187T>C (n.*187T>C) c.772T>C (p.Ser258Pro) c.331T>C (p.Ser111Pro) | |
4 | g.102267947A>T | CA357749957 | SLC39A8 | c.998T>A (p.Phe333Tyr) c.973T>A (p.Ser325Thr) c.*1119T>A (n.*1119T>A) c.*1094T>A (n.*1094T>A) n.906T>A c.377T>A (p.Phe126Tyr) c.*648T>A (n.*648T>A) c.*187T>A (n.*187T>A) c.772T>A (p.Ser258Thr) c.331T>A (p.Ser111Thr) | |
4 | g.102267948A>C | CA440807903 | SLC39A8 | c.997T>G (p.Phe333Val) c.972T>G (p.Ala324=) c.*1118T>G (n.*1118T>G) c.*1093T>G (n.*1093T>G) n.905T>G c.376T>G (p.Phe126Val) c.*647T>G (n.*647T>G) c.*186T>G (n.*186T>G) c.771T>G (p.Ala257=) c.330T>G (p.Ala110=) | |
4 | g.102267948A>G | CA440807904 | SLC39A8 | c.997T>C (p.Phe333Leu) c.972T>C (p.Ala324=) c.*1118T>C (n.*1118T>C) c.*1093T>C (n.*1093T>C) n.905T>C c.376T>C (p.Phe126Leu) c.*647T>C (n.*647T>C) c.*186T>C (n.*186T>C) c.771T>C (p.Ala257=) c.330T>C (p.Ala110=) | gnomAD v4 |
4 | g.102267948A>T | CA440807906 | SLC39A8 | c.997T>A (p.Phe333Ile) c.972T>A (p.Ala324=) c.*1118T>A (n.*1118T>A) c.*1093T>A (n.*1093T>A) n.905T>A c.376T>A (p.Phe126Ile) c.*647T>A (n.*647T>A) c.*186T>A (n.*186T>A) c.771T>A (p.Ala257=) c.330T>A (p.Ala110=) | |
4 | g.102267949G>A | CA357749959 | SLC39A8 | c.996C>T (p.Gly332=) c.971C>T (p.Ala324Val) c.*1117C>T (n.*1117C>T) c.*1092C>T (n.*1092C>T) n.904C>T c.375C>T (p.Gly125=) c.*646C>T (n.*646C>T) c.*185C>T (n.*185C>T) c.770C>T (p.Ala257Val) c.329C>T (p.Ala110Val) | gnomAD v4 |
4 | g.102267949G>C | CA357749961 | SLC39A8 | c.996C>G (p.Gly332=) c.971C>G (p.Ala324Gly) c.*1117C>G (n.*1117C>G) c.*1092C>G (n.*1092C>G) n.904C>G c.375C>G (p.Gly125=) c.*646C>G (n.*646C>G) c.*185C>G (n.*185C>G) c.770C>G (p.Ala257Gly) c.329C>G (p.Ala110Gly) | |
4 | g.102267949G>T | CA357749960 | SLC39A8 | c.996C>A (p.Gly332=) c.971C>A (p.Ala324Asp) c.*1117C>A (n.*1117C>A) c.*1092C>A (n.*1092C>A) n.904C>A c.375C>A (p.Gly125=) c.*646C>A (n.*646C>A) c.*185C>A (n.*185C>A) c.770C>A (p.Ala257Asp) c.329C>A (p.Ala110Asp) | |
4 | g.102267950C>A | CA357749962 | SLC39A8 | c.995G>T (p.Gly332Val) c.970G>T (p.Ala324Ser) c.*1116G>T (n.*1116G>T) c.*1091G>T (n.*1091G>T) n.903G>T c.374G>T (p.Gly125Val) c.*645G>T (n.*645G>T) c.*184G>T (n.*184G>T) c.769G>T (p.Ala257Ser) c.328G>T (p.Ala110Ser) | gnomAD v4 |
4 | g.102267950C>G | CA357749963 | SLC39A8 | c.995G>C (p.Gly332Ala) c.970G>C (p.Ala324Pro) c.*1116G>C (n.*1116G>C) c.*1091G>C (n.*1091G>C) n.903G>C c.374G>C (p.Gly125Ala) c.*645G>C (n.*645G>C) c.*184G>C (n.*184G>C) c.769G>C (p.Ala257Pro) c.328G>C (p.Ala110Pro) | |
4 | g.102267950C>T | CA357749964 | SLC39A8 | c.995G>A (p.Gly332Asp) c.970G>A (p.Ala324Thr) c.*1116G>A (n.*1116G>A) c.*1091G>A (n.*1091G>A) n.903G>A c.374G>A (p.Gly125Asp) c.*645G>A (n.*645G>A) c.*184G>A (n.*184G>A) c.769G>A (p.Ala257Thr) c.328G>A (p.Ala110Thr) | |
4 | g.102267951C>A | CA440807907 | SLC39A8 | c.994G>T (p.Gly332Cys) c.969G>T (p.Gly323=) c.*1115G>T (n.*1115G>T) c.*1090G>T (n.*1090G>T) n.902G>T c.373G>T (p.Gly125Cys) c.*644G>T (n.*644G>T) c.*183G>T (n.*183G>T) c.768G>T (p.Gly256=) c.327G>T (p.Gly109=) | |
4 | g.102267951C>G | CA440807908 | SLC39A8 | c.994G>C (p.Gly332Arg) c.969G>C (p.Gly323=) c.*1115G>C (n.*1115G>C) c.*1090G>C (n.*1090G>C) n.902G>C c.373G>C (p.Gly125Arg) c.*644G>C (n.*644G>C) c.*183G>C (n.*183G>C) c.768G>C (p.Gly256=) c.327G>C (p.Gly109=) | |
4 | g.102267951C>T | CA440807909 | SLC39A8 | c.994G>A (p.Gly332Ser) c.969G>A (p.Gly323=) c.*1115G>A (n.*1115G>A) c.*1090G>A (n.*1090G>A) n.902G>A c.373G>A (p.Gly125Ser) c.*644G>A (n.*644G>A) c.*183G>A (n.*183G>A) c.768G>A (p.Gly256=) c.327G>A (p.Gly109=) | |
4 | g.102267952C>A | CA357749965 | SLC39A8 | c.993G>T (p.Trp331Cys) c.968G>T (p.Gly323Val) c.*1114G>T (n.*1114G>T) c.*1089G>T (n.*1089G>T) n.901G>T c.372G>T (p.Trp124Cys) c.*643G>T (n.*643G>T) c.*182G>T (n.*182G>T) c.767G>T (p.Gly256Val) c.326G>T (p.Gly109Val) | |
4 | g.102267952C>G | CA357749966 | SLC39A8 | c.993G>C (p.Trp331Cys) c.968G>C (p.Gly323Ala) c.*1114G>C (n.*1114G>C) c.*1089G>C (n.*1089G>C) n.901G>C c.372G>C (p.Trp124Cys) c.*643G>C (n.*643G>C) c.*182G>C (n.*182G>C) c.767G>C (p.Gly256Ala) c.326G>C (p.Gly109Ala) | |
4 | g.102267952C>T | CA357749967 | SLC39A8 | c.993G>A (p.Trp331Ter) c.968G>A (p.Gly323Glu) c.*1114G>A (n.*1114G>A) c.*1089G>A (n.*1089G>A) n.901G>A c.372G>A (p.Trp124Ter) c.*643G>A (n.*643G>A) c.*182G>A (n.*182G>A) c.767G>A (p.Gly256Glu) c.326G>A (p.Gly109Glu) | |
4 | g.102267953C>A | CA357749968 | SLC39A8 | c.992G>T (p.Trp331Leu) c.967G>T (p.Gly323Trp) c.*1113G>T (n.*1113G>T) c.*1088G>T (n.*1088G>T) n.900G>T c.371G>T (p.Trp124Leu) c.*642G>T (n.*642G>T) c.*181G>T (n.*181G>T) c.766G>T (p.Gly256Trp) c.325G>T (p.Gly109Trp) | |
4 | g.102267953C>G | CA357749969 | SLC39A8 | c.992G>C (p.Trp331Ser) c.967G>C (p.Gly323Arg) c.*1113G>C (n.*1113G>C) c.*1088G>C (n.*1088G>C) n.900G>C c.371G>C (p.Trp124Ser) c.*642G>C (n.*642G>C) c.*181G>C (n.*181G>C) c.766G>C (p.Gly256Arg) c.325G>C (p.Gly109Arg) | |
4 | g.102267953C>T | CA357749970 | SLC39A8 | c.992G>A (p.Trp331Ter) c.967G>A (p.Gly323Arg) c.*1113G>A (n.*1113G>A) c.*1088G>A (n.*1088G>A) n.900G>A c.371G>A (p.Trp124Ter) c.*642G>A (n.*642G>A) c.*181G>A (n.*181G>A) c.766G>A (p.Gly256Arg) c.325G>A (p.Gly109Arg) | |
4 | g.102267954A>C | CA357749971 | SLC39A8 | c.991T>G (p.Trp331Gly) c.966T>G (p.Ile322Met) c.*1112T>G (n.*1112T>G) c.*1087T>G (n.*1087T>G) n.899T>G c.370T>G (p.Trp124Gly) c.*641T>G (n.*641T>G) c.*180T>G (n.*180T>G) c.765T>G (p.Ile255Met) c.324T>G (p.Ile108Met) | |
4 | g.102267954A>G | CA440807913 | SLC39A8 | c.991T>C (p.Trp331Arg) c.966T>C (p.Ile322=) c.*1112T>C (n.*1112T>C) c.*1087T>C (n.*1087T>C) n.899T>C c.370T>C (p.Trp124Arg) c.*641T>C (n.*641T>C) c.*180T>C (n.*180T>C) c.765T>C (p.Ile255=) c.324T>C (p.Ile108=) | |
4 | g.102267954A>T | CA440807914 | SLC39A8 | c.991T>A (p.Trp331Arg) c.966T>A (p.Ile322=) c.*1112T>A (n.*1112T>A) c.*1087T>A (n.*1087T>A) n.899T>A c.370T>A (p.Trp124Arg) c.*641T>A (n.*641T>A) c.*180T>A (n.*180T>A) c.765T>A (p.Ile255=) c.324T>A (p.Ile108=) | |
4 | g.102267955del | CA2499217032 | SLC39A8 | c.991del (p.Trp331GlyfsTer?) c.966del (p.Ile322MetfsTer17) c.*1112del (n.*1112del) c.*1087del (n.*1087del) n.899del c.370del (p.Trp124GlyfsTer?) c.*641del (n.*641del) c.*180del (n.*180del) c.765del (p.Ile255MetfsTer17) c.324del (p.Ile108MetfsTer17) | ClinVar dbSNP |
4 | g.102267955A= | CA1481301239 | SLC39A8 | c.990T= (p.Asp330=) c.965T= (p.Ile322=) c.*1111T= (n.*1111T=) c.*1086T= (n.*1086T=) n.898T= c.369T= (p.Asp123=) c.*640T= (n.*640T=) c.*179T= (n.*179T=) c.764T= (p.Ile255=) c.323T= (p.Ile108=) | |
4 | g.102267955A>C | CA357749973 | SLC39A8 | c.990T>G (p.Asp330Glu) c.965T>G (p.Ile322Ser) c.*1111T>G (n.*1111T>G) c.*1086T>G (n.*1086T>G) n.898T>G c.369T>G (p.Asp123Glu) c.*640T>G (n.*640T>G) c.*179T>G (n.*179T>G) c.764T>G (p.Ile255Ser) c.323T>G (p.Ile108Ser) | |
4 | g.102267955A>G | CA3025537 | SLC39A8 | c.990T>C (p.Asp330=) c.965T>C (p.Ile322Thr) c.*1111T>C (n.*1111T>C) c.*1086T>C (n.*1086T>C) n.898T>C c.369T>C (p.Asp123=) c.*640T>C (n.*640T>C) c.*179T>C (n.*179T>C) c.764T>C (p.Ile255Thr) c.323T>C (p.Ile108Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267955A>T | CA357749972 | SLC39A8 | c.990T>A (p.Asp330Glu) c.965T>A (p.Ile322Asn) c.*1111T>A (n.*1111T>A) c.*1086T>A (n.*1086T>A) n.898T>A c.369T>A (p.Asp123Glu) c.*640T>A (n.*640T>A) c.*179T>A (n.*179T>A) c.764T>A (p.Ile255Asn) c.323T>A (p.Ile108Asn) | |
4 | g.102267956T>A | CA357749974 | SLC39A8 | c.989A>T (p.Asp330Val) c.964A>T (p.Ile322Phe) c.*1110A>T (n.*1110A>T) c.*1085A>T (n.*1085A>T) n.897A>T c.368A>T (p.Asp123Val) c.*639A>T (n.*639A>T) c.*178A>T (n.*178A>T) c.763A>T (p.Ile255Phe) c.322A>T (p.Ile108Phe) | |
4 | g.102267956T>C | CA357749975 | SLC39A8 | c.989A>G (p.Asp330Gly) c.964A>G (p.Ile322Val) c.*1110A>G (n.*1110A>G) c.*1085A>G (n.*1085A>G) n.897A>G c.368A>G (p.Asp123Gly) c.*639A>G (n.*639A>G) c.*178A>G (n.*178A>G) c.763A>G (p.Ile255Val) c.322A>G (p.Ile108Val) | |
4 | g.102267956T>G | CA3025538 | SLC39A8 | c.989A>C (p.Asp330Ala) c.964A>C (p.Ile322Leu) c.*1110A>C (n.*1110A>C) c.*1085A>C (n.*1085A>C) n.897A>C c.368A>C (p.Asp123Ala) c.*639A>C (n.*639A>C) c.*178A>C (n.*178A>C) c.763A>C (p.Ile255Leu) c.322A>C (p.Ile108Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102267956T= | CA1481301240 | SLC39A8 | c.989A= (p.Asp330=) c.964A= (p.Ile322=) c.*1110A= (n.*1110A=) c.*1085A= (n.*1085A=) n.897A= c.368A= (p.Asp123=) c.*639A= (n.*639A=) c.*178A= (n.*178A=) c.763A= (p.Ile255=) c.322A= (p.Ile108=) | |
4 | g.102267957C>A | CA440807916 | SLC39A8 | c.988G>T (p.Asp330Tyr) c.963G>T (p.Ala321=) c.*1109G>T (n.*1109G>T) c.*1084G>T (n.*1084G>T) n.896G>T c.367G>T (p.Asp123Tyr) c.*638G>T (n.*638G>T) c.*177G>T (n.*177G>T) c.762G>T (p.Ala254=) c.321G>T (p.Ala107=) | |
4 | g.102267957C= | CA1481301241 | SLC39A8 | c.988G= (p.Asp330=) c.963G= (p.Ala321=) c.*1109G= (n.*1109G=) c.*1084G= (n.*1084G=) n.896G= c.367G= (p.Asp123=) c.*638G= (n.*638G=) c.*177G= (n.*177G=) c.762G= (p.Ala254=) c.321G= (p.Ala107=) | |
4 | g.102267957C>G | CA440807917 | SLC39A8 | c.988G>C (p.Asp330His) c.963G>C (p.Ala321=) c.*1109G>C (n.*1109G>C) c.*1084G>C (n.*1084G>C) n.896G>C c.367G>C (p.Asp123His) c.*638G>C (n.*638G>C) c.*177G>C (n.*177G>C) c.762G>C (p.Ala254=) c.321G>C (p.Ala107=) | |
4 | g.102267957C>T | CA3025539 | SLC39A8 | c.988G>A (p.Asp330Asn) c.963G>A (p.Ala321=) c.*1109G>A (n.*1109G>A) c.*1084G>A (n.*1084G>A) n.896G>A c.367G>A (p.Asp123Asn) c.*638G>A (n.*638G>A) c.*177G>A (n.*177G>A) c.762G>A (p.Ala254=) c.321G>A (p.Ala107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267958G>A | CA3025540 | SLC39A8 | c.987C>T (p.Gly329=) c.962C>T (p.Ala321Val) c.*1108C>T (n.*1108C>T) c.*1083C>T (n.*1083C>T) n.895C>T c.366C>T (p.Gly122=) c.*637C>T (n.*637C>T) c.*176C>T (n.*176C>T) c.761C>T (p.Ala254Val) c.320C>T (p.Ala107Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102267958G>C | CA357749976 | SLC39A8 | c.987C>G (p.Gly329=) c.962C>G (p.Ala321Gly) c.*1108C>G (n.*1108C>G) c.*1083C>G (n.*1083C>G) n.895C>G c.366C>G (p.Gly122=) c.*637C>G (n.*637C>G) c.*176C>G (n.*176C>G) c.761C>G (p.Ala254Gly) c.320C>G (p.Ala107Gly) | |
4 | g.102267958G= | CA1481301242 | SLC39A8 | c.987C= (p.Gly329=) c.962C= (p.Ala321=) c.*1108C= (n.*1108C=) c.*1083C= (n.*1083C=) n.895C= c.366C= (p.Gly122=) c.*637C= (n.*637C=) c.*176C= (n.*176C=) c.761C= (p.Ala254=) c.320C= (p.Ala107=) | |
4 | g.102267958G>T | CA357749977 | SLC39A8 | c.987C>A (p.Gly329=) c.962C>A (p.Ala321Glu) c.*1108C>A (n.*1108C>A) c.*1083C>A (n.*1083C>A) n.895C>A c.366C>A (p.Gly122=) c.*637C>A (n.*637C>A) c.*176C>A (n.*176C>A) c.761C>A (p.Ala254Glu) c.320C>A (p.Ala107Glu) | |
4 | g.102267959C>A | CA357749978 | SLC39A8 | c.986G>T (p.Gly329Val) c.961G>T (p.Ala321Ser) c.*1107G>T (n.*1107G>T) c.*1082G>T (n.*1082G>T) n.894G>T c.365G>T (p.Gly122Val) c.*636G>T (n.*636G>T) c.*175G>T (n.*175G>T) c.760G>T (p.Ala254Ser) c.319G>T (p.Ala107Ser) | |
4 | g.102267959C>G | CA357749979 | SLC39A8 | c.986G>C (p.Gly329Ala) c.961G>C (p.Ala321Pro) c.*1107G>C (n.*1107G>C) c.*1082G>C (n.*1082G>C) n.894G>C c.365G>C (p.Gly122Ala) c.*636G>C (n.*636G>C) c.*175G>C (n.*175G>C) c.760G>C (p.Ala254Pro) c.319G>C (p.Ala107Pro) | |
4 | g.102267959C>T | CA357749980 | SLC39A8 | c.986G>A (p.Gly329Asp) c.961G>A (p.Ala321Thr) c.*1107G>A (n.*1107G>A) c.*1082G>A (n.*1082G>A) n.894G>A c.365G>A (p.Gly122Asp) c.*636G>A (n.*636G>A) c.*175G>A (n.*175G>A) c.760G>A (p.Ala254Thr) c.319G>A (p.Ala107Thr) | |
4 | g.102267960C>A | CA440807921 | SLC39A8 | c.985G>T (p.Gly329Cys) c.960G>T (p.Leu320=) c.*1106G>T (n.*1106G>T) c.*1081G>T (n.*1081G>T) n.893G>T c.364G>T (p.Gly122Cys) c.*635G>T (n.*635G>T) c.*174G>T (n.*174G>T) c.759G>T (p.Leu253=) c.318G>T (p.Leu106=) | |
4 | g.102267960C= | CA1481301243 | SLC39A8 | c.985G= (p.Gly329=) c.960G= (p.Leu320=) c.*1106G= (n.*1106G=) c.*1081G= (n.*1081G=) n.893G= c.364G= (p.Gly122=) c.*635G= (n.*635G=) c.*174G= (n.*174G=) c.759G= (p.Leu253=) c.318G= (p.Leu106=) | |
4 | g.102267960C>G | CA3025541 | SLC39A8 | c.985G>C (p.Gly329Arg) c.960G>C (p.Leu320=) c.*1106G>C (n.*1106G>C) c.*1081G>C (n.*1081G>C) n.893G>C c.364G>C (p.Gly122Arg) c.*635G>C (n.*635G>C) c.*174G>C (n.*174G>C) c.759G>C (p.Leu253=) c.318G>C (p.Leu106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267960C>T | CA440807922 | SLC39A8 | c.985G>A (p.Gly329Ser) c.960G>A (p.Leu320=) c.*1106G>A (n.*1106G>A) c.*1081G>A (n.*1081G>A) n.893G>A c.364G>A (p.Gly122Ser) c.*635G>A (n.*635G>A) c.*174G>A (n.*174G>A) c.759G>A (p.Leu253=) c.318G>A (p.Leu106=) | |
4 | g.102267961A>C | CA357749982 | SLC39A8 | c.984T>G (p.Pro328=) c.959T>G (p.Leu320Arg) c.*1105T>G (n.*1105T>G) c.*1080T>G (n.*1080T>G) n.892T>G c.363T>G (p.Pro121=) c.*634T>G (n.*634T>G) c.*173T>G (n.*173T>G) c.758T>G (p.Leu253Arg) c.317T>G (p.Leu106Arg) | |
4 | g.102267961A>G | CA357749983 | SLC39A8 | c.984T>C (p.Pro328=) c.959T>C (p.Leu320Pro) c.*1105T>C (n.*1105T>C) c.*1080T>C (n.*1080T>C) n.892T>C c.363T>C (p.Pro121=) c.*634T>C (n.*634T>C) c.*173T>C (n.*173T>C) c.758T>C (p.Leu253Pro) c.317T>C (p.Leu106Pro) | |
4 | g.102267961A>T | CA357749981 | SLC39A8 | c.984T>A (p.Pro328=) c.959T>A (p.Leu320Gln) c.*1105T>A (n.*1105T>A) c.*1080T>A (n.*1080T>A) n.892T>A c.363T>A (p.Pro121=) c.*634T>A (n.*634T>A) c.*173T>A (n.*173T>A) c.758T>A (p.Leu253Gln) c.317T>A (p.Leu106Gln) | |
4 | g.102267962G>A | CA3025542 | SLC39A8 | c.983C>T (p.Pro328Leu) c.958C>T (p.Leu320=) c.*1104C>T (n.*1104C>T) c.*1079C>T (n.*1079C>T) n.891C>T c.362C>T (p.Pro121Leu) c.*633C>T (n.*633C>T) c.*172C>T (n.*172C>T) c.757C>T (p.Leu253=) c.316C>T (p.Leu106=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267962G>C | CA357749984 | SLC39A8 | c.983C>G (p.Pro328Arg) c.958C>G (p.Leu320Val) c.*1104C>G (n.*1104C>G) c.*1079C>G (n.*1079C>G) n.891C>G c.362C>G (p.Pro121Arg) c.*633C>G (n.*633C>G) c.*172C>G (n.*172C>G) c.757C>G (p.Leu253Val) c.316C>G (p.Leu106Val) | |
4 | g.102267962G= | CA1481301244 | SLC39A8 | c.983C= (p.Pro328=) c.958C= (p.Leu320=) c.*1104C= (n.*1104C=) c.*1079C= (n.*1079C=) n.891C= c.362C= (p.Pro121=) c.*633C= (n.*633C=) c.*172C= (n.*172C=) c.757C= (p.Leu253=) c.316C= (p.Leu106=) | |
4 | g.102267962G>T | CA357749985 | SLC39A8 | c.983C>A (p.Pro328His) c.958C>A (p.Leu320Met) c.*1104C>A (n.*1104C>A) c.*1079C>A (n.*1079C>A) n.891C>A c.362C>A (p.Pro121His) c.*633C>A (n.*633C>A) c.*172C>A (n.*172C>A) c.757C>A (p.Leu253Met) c.316C>A (p.Leu106Met) | |
4 | g.102267963G>A | CA440807926 | SLC39A8 | c.982C>T (p.Pro328Ser) c.957C>T (p.Gly319=) c.*1103C>T (n.*1103C>T) c.*1078C>T (n.*1078C>T) n.890C>T c.361C>T (p.Pro121Ser) c.*632C>T (n.*632C>T) c.*171C>T (n.*171C>T) c.756C>T (p.Gly252=) c.315C>T (p.Gly105=) | |
4 | g.102267963G>C | CA440807927 | SLC39A8 | c.982C>G (p.Pro328Ala) c.957C>G (p.Gly319=) c.*1103C>G (n.*1103C>G) c.*1078C>G (n.*1078C>G) n.890C>G c.361C>G (p.Pro121Ala) c.*632C>G (n.*632C>G) c.*171C>G (n.*171C>G) c.756C>G (p.Gly252=) c.315C>G (p.Gly105=) | |
4 | g.102267963G>T | CA440807928 | SLC39A8 | c.982C>A (p.Pro328Thr) c.957C>A (p.Gly319=) c.*1103C>A (n.*1103C>A) c.*1078C>A (n.*1078C>A) n.890C>A c.361C>A (p.Pro121Thr) c.*632C>A (n.*632C>A) c.*171C>A (n.*171C>A) c.756C>A (p.Gly252=) c.315C>A (p.Gly105=) | |
4 | g.102267964C>A | CA357749986 | SLC39A8 | c.981G>T (p.Trp327Cys) c.956G>T (p.Gly319Val) c.*1102G>T (n.*1102G>T) c.*1077G>T (n.*1077G>T) n.889G>T c.360G>T (p.Trp120Cys) c.*631G>T (n.*631G>T) c.*170G>T (n.*170G>T) c.755G>T (p.Gly252Val) c.314G>T (p.Gly105Val) | |
4 | g.102267964C>G | CA357749987 | SLC39A8 | c.981G>C (p.Trp327Cys) c.956G>C (p.Gly319Ala) c.*1102G>C (n.*1102G>C) c.*1077G>C (n.*1077G>C) n.889G>C c.360G>C (p.Trp120Cys) c.*631G>C (n.*631G>C) c.*170G>C (n.*170G>C) c.755G>C (p.Gly252Ala) c.314G>C (p.Gly105Ala) | |
4 | g.102267964C>T | CA357749988 | SLC39A8 | c.981G>A (p.Trp327Ter) c.956G>A (p.Gly319Asp) c.*1102G>A (n.*1102G>A) c.*1077G>A (n.*1077G>A) n.889G>A c.360G>A (p.Trp120Ter) c.*631G>A (n.*631G>A) c.*170G>A (n.*170G>A) c.755G>A (p.Gly252Asp) c.314G>A (p.Gly105Asp) | |
4 | g.102267965C>A | CA357749989 | SLC39A8 | c.980G>T (p.Trp327Leu) c.955G>T (p.Gly319Cys) c.*1101G>T (n.*1101G>T) c.*1076G>T (n.*1076G>T) n.888G>T c.359G>T (p.Trp120Leu) c.*630G>T (n.*630G>T) c.*169G>T (n.*169G>T) c.754G>T (p.Gly252Cys) c.313G>T (p.Gly105Cys) | |
4 | g.102267965C>G | CA357749990 | SLC39A8 | c.980G>C (p.Trp327Ser) c.955G>C (p.Gly319Arg) c.*1101G>C (n.*1101G>C) c.*1076G>C (n.*1076G>C) n.888G>C c.359G>C (p.Trp120Ser) c.*630G>C (n.*630G>C) c.*169G>C (n.*169G>C) c.754G>C (p.Gly252Arg) c.313G>C (p.Gly105Arg) | |
4 | g.102267965C>T | CA357749991 | SLC39A8 | c.980G>A (p.Trp327Ter) c.955G>A (p.Gly319Ser) c.*1101G>A (n.*1101G>A) c.*1076G>A (n.*1076G>A) n.888G>A c.359G>A (p.Trp120Ter) c.*630G>A (n.*630G>A) c.*169G>A (n.*169G>A) c.754G>A (p.Gly252Ser) c.313G>A (p.Gly105Ser) | |
4 | g.102267966A>C | CA357749992 | SLC39A8 | c.979T>G (p.Trp327Gly) c.954T>G (p.Asp318Glu) c.*1100T>G (n.*1100T>G) c.*1075T>G (n.*1075T>G) n.887T>G c.358T>G (p.Trp120Gly) c.*629T>G (n.*629T>G) c.*168T>G (n.*168T>G) c.753T>G (p.Asp251Glu) c.312T>G (p.Asp104Glu) | |
4 | g.102267966A>G | CA440807933 | SLC39A8 | c.979T>C (p.Trp327Arg) c.954T>C (p.Asp318=) c.*1100T>C (n.*1100T>C) c.*1075T>C (n.*1075T>C) n.887T>C c.358T>C (p.Trp120Arg) c.*629T>C (n.*629T>C) c.*168T>C (n.*168T>C) c.753T>C (p.Asp251=) c.312T>C (p.Asp104=) | gnomAD v4 |
4 | g.102267966A>T | CA357749993 | SLC39A8 | c.979T>A (p.Trp327Arg) c.954T>A (p.Asp318Glu) c.*1100T>A (n.*1100T>A) c.*1075T>A (n.*1075T>A) n.887T>A c.358T>A (p.Trp120Arg) c.*629T>A (n.*629T>A) c.*168T>A (n.*168T>A) c.753T>A (p.Asp251Glu) c.312T>A (p.Asp104Glu) | |
4 | g.102267967T>A | CA357749995 | SLC39A8 | c.978A>T (p.Arg326=) c.953A>T (p.Asp318Val) c.*1099A>T (n.*1099A>T) c.*1074A>T (n.*1074A>T) n.886A>T c.357A>T (p.Arg119=) c.*628A>T (n.*628A>T) c.*167A>T (n.*167A>T) c.752A>T (p.Asp251Val) c.311A>T (p.Asp104Val) | |
4 | g.102267967T>C | CA357749996 | SLC39A8 | c.978A>G (p.Arg326=) c.953A>G (p.Asp318Gly) c.*1099A>G (n.*1099A>G) c.*1074A>G (n.*1074A>G) n.886A>G c.357A>G (p.Arg119=) c.*628A>G (n.*628A>G) c.*167A>G (n.*167A>G) c.752A>G (p.Asp251Gly) c.311A>G (p.Asp104Gly) | |
4 | g.102267967T>G | CA357749994 | SLC39A8 | c.978A>C (p.Arg326=) c.953A>C (p.Asp318Ala) c.*1099A>C (n.*1099A>C) c.*1074A>C (n.*1074A>C) n.886A>C c.357A>C (p.Arg119=) c.*628A>C (n.*628A>C) c.*167A>C (n.*167A>C) c.752A>C (p.Asp251Ala) c.311A>C (p.Asp104Ala) | |
4 | g.102267968C>A | CA357749997 | SLC39A8 | c.977G>T (p.Arg326Leu) c.952G>T (p.Asp318Tyr) c.*1098G>T (n.*1098G>T) c.*1073G>T (n.*1073G>T) n.885G>T c.356G>T (p.Arg119Leu) c.*627G>T (n.*627G>T) c.*166G>T (n.*166G>T) c.751G>T (p.Asp251Tyr) c.310G>T (p.Asp104Tyr) | |
4 | g.102267968C>G | CA357749998 | SLC39A8 | c.977G>C (p.Arg326Pro) c.952G>C (p.Asp318His) c.*1098G>C (n.*1098G>C) c.*1073G>C (n.*1073G>C) n.885G>C c.356G>C (p.Arg119Pro) c.*627G>C (n.*627G>C) c.*166G>C (n.*166G>C) c.751G>C (p.Asp251His) c.310G>C (p.Asp104His) | gnomAD v4 |
4 | g.102267968C>T | CA357749999 | SLC39A8 | c.977G>A (p.Arg326Gln) c.952G>A (p.Asp318Asn) c.*1098G>A (n.*1098G>A) c.*1073G>A (n.*1073G>A) n.885G>A c.356G>A (p.Arg119Gln) c.*627G>A (n.*627G>A) c.*166G>A (n.*166G>A) c.751G>A (p.Asp251Asn) c.310G>A (p.Asp104Asn) | gnomAD v4 COSMIC COSMIC |
4 | g.102267969G>A | CA3025543 | SLC39A8 | c.976C>T (p.Arg326Ter) c.951C>T (p.Ile317=) c.*1097C>T (n.*1097C>T) c.*1072C>T (n.*1072C>T) n.884C>T c.355C>T (p.Arg119Ter) c.*626C>T (n.*626C>T) c.*165C>T (n.*165C>T) c.750C>T (p.Ile250=) c.309C>T (p.Ile103=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267969G>C | CA357750000 | SLC39A8 | c.976C>G (p.Arg326Gly) c.951C>G (p.Ile317Met) c.*1097C>G (n.*1097C>G) c.*1072C>G (n.*1072C>G) n.884C>G c.355C>G (p.Arg119Gly) c.*626C>G (n.*626C>G) c.*165C>G (n.*165C>G) c.750C>G (p.Ile250Met) c.309C>G (p.Ile103Met) | |
4 | g.102267969G= | CA1481301245 | SLC39A8 | c.976C= (p.Arg326=) c.951C= (p.Ile317=) c.*1097C= (n.*1097C=) c.*1072C= (n.*1072C=) n.884C= c.355C= (p.Arg119=) c.*626C= (n.*626C=) c.*165C= (n.*165C=) c.750C= (p.Ile250=) c.309C= (p.Ile103=) | |
4 | g.102267969G>T | CA440807937 | SLC39A8 | c.976C>A (p.Arg326=) c.951C>A (p.Ile317=) c.*1097C>A (n.*1097C>A) c.*1072C>A (n.*1072C>A) n.884C>A c.355C>A (p.Arg119=) c.*626C>A (n.*626C>A) c.*165C>A (n.*165C>A) c.750C>A (p.Ile250=) c.309C>A (p.Ile103=) | |
4 | g.102267970A>C | CA357750003 | SLC39A8 | c.975T>G (p.His325Gln) c.950T>G (p.Ile317Ser) c.*1096T>G (n.*1096T>G) c.*1071T>G (n.*1071T>G) n.883T>G c.354T>G (p.His118Gln) c.*625T>G (n.*625T>G) c.*164T>G (n.*164T>G) c.749T>G (p.Ile250Ser) c.308T>G (p.Ile103Ser) | |
4 | g.102267970A>G | CA357750001 | SLC39A8 | c.975T>C (p.His325=) c.950T>C (p.Ile317Thr) c.*1096T>C (n.*1096T>C) c.*1071T>C (n.*1071T>C) n.883T>C c.354T>C (p.His118=) c.*625T>C (n.*625T>C) c.*164T>C (n.*164T>C) c.749T>C (p.Ile250Thr) c.308T>C (p.Ile103Thr) | gnomAD v4 |
4 | g.102267970A>T | CA357750002 | SLC39A8 | c.975T>A (p.His325Gln) c.950T>A (p.Ile317Asn) c.*1096T>A (n.*1096T>A) c.*1071T>A (n.*1071T>A) n.883T>A c.354T>A (p.His118Gln) c.*625T>A (n.*625T>A) c.*164T>A (n.*164T>A) c.749T>A (p.Ile250Asn) c.308T>A (p.Ile103Asn) | |
4 | g.102267971T>A | CA357750004 | SLC39A8 | c.974A>T (p.His325Leu) c.949A>T (p.Ile317Phe) c.*1095A>T (n.*1095A>T) c.*1070A>T (n.*1070A>T) n.882A>T c.353A>T (p.His118Leu) c.*624A>T (n.*624A>T) c.*163A>T (n.*163A>T) c.748A>T (p.Ile250Phe) c.307A>T (p.Ile103Phe) | |
4 | g.102267971T>C | CA357750005 | SLC39A8 | c.974A>G (p.His325Arg) c.949A>G (p.Ile317Val) c.*1095A>G (n.*1095A>G) c.*1070A>G (n.*1070A>G) n.882A>G c.353A>G (p.His118Arg) c.*624A>G (n.*624A>G) c.*163A>G (n.*163A>G) c.748A>G (p.Ile250Val) c.307A>G (p.Ile103Val) | |
4 | g.102267971T>G | CA357750006 | SLC39A8 | c.974A>C (p.His325Pro) c.949A>C (p.Ile317Leu) c.*1095A>C (n.*1095A>C) c.*1070A>C (n.*1070A>C) n.882A>C c.353A>C (p.His118Pro) c.*624A>C (n.*624A>C) c.*163A>C (n.*163A>C) c.748A>C (p.Ile250Leu) c.307A>C (p.Ile103Leu) | |
4 | g.102267972G>A | CA440807938 | SLC39A8 | c.973C>T (p.His325Tyr) c.948C>T (p.Phe316=) c.*1094C>T (n.*1094C>T) c.*1069C>T (n.*1069C>T) n.881C>T c.352C>T (p.His118Tyr) c.*623C>T (n.*623C>T) c.*162C>T (n.*162C>T) c.747C>T (p.Phe249=) c.306C>T (p.Phe102=) | |
4 | g.102267972G>C | CA357750007 | SLC39A8 | c.973C>G (p.His325Asp) c.948C>G (p.Phe316Leu) c.*1094C>G (n.*1094C>G) c.*1069C>G (n.*1069C>G) n.881C>G c.352C>G (p.His118Asp) c.*623C>G (n.*623C>G) c.*162C>G (n.*162C>G) c.747C>G (p.Phe249Leu) c.306C>G (p.Phe102Leu) | |
4 | g.102267972G>T | CA357750008 | SLC39A8 | c.973C>A (p.His325Asn) c.948C>A (p.Phe316Leu) c.*1094C>A (n.*1094C>A) c.*1069C>A (n.*1069C>A) n.881C>A c.352C>A (p.His118Asn) c.*623C>A (n.*623C>A) c.*162C>A (n.*162C>A) c.747C>A (p.Phe249Leu) c.306C>A (p.Phe102Leu) | |
4 | g.102267974_102267982dup | CA2580071260 | SLC39A8 | c.965_973dup (p.Phe324_His325insProGlnPhe) c.940_948dup (p.Phe316_Ile317insHisAsnPhe) c.*1086_*1094dup (n.*1086_*1094dup) c.*1061_*1069dup (n.*1061_*1069dup) n.873_881dup c.344_352dup (p.Phe117_His118insProGlnPhe) c.*615_*623dup (n.*615_*623dup) c.*154_*162dup (n.*154_*162dup) c.739_747dup (p.Phe249_Ile250insHisAsnPhe) c.298_306dup (p.Phe102_Ile103insHisAsnPhe) | ClinVar |
4 | g.102267973A= | CA1481301246 | SLC39A8 | c.972T= (p.Phe324=) c.947T= (p.Phe316=) c.*1093T= (n.*1093T=) c.*1068T= (n.*1068T=) n.880T= c.351T= (p.Phe117=) c.*622T= (n.*622T=) c.*161T= (n.*161T=) c.746T= (p.Phe249=) c.305T= (p.Phe102=) | |
4 | g.102267973A>C | CA3025544 | SLC39A8 | c.972T>G (p.Phe324Leu) c.947T>G (p.Phe316Cys) c.*1093T>G (n.*1093T>G) c.*1068T>G (n.*1068T>G) n.880T>G c.351T>G (p.Phe117Leu) c.*622T>G (n.*622T>G) c.*161T>G (n.*161T>G) c.746T>G (p.Phe249Cys) c.305T>G (p.Phe102Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267973A>G | CA357750010 | SLC39A8 | c.972T>C (p.Phe324=) c.947T>C (p.Phe316Ser) c.*1093T>C (n.*1093T>C) c.*1068T>C (n.*1068T>C) n.880T>C c.351T>C (p.Phe117=) c.*622T>C (n.*622T>C) c.*161T>C (n.*161T>C) c.746T>C (p.Phe249Ser) c.305T>C (p.Phe102Ser) | |
4 | g.102267973A>T | CA357750009 | SLC39A8 | c.972T>A (p.Phe324Leu) c.947T>A (p.Phe316Tyr) c.*1093T>A (n.*1093T>A) c.*1068T>A (n.*1068T>A) n.880T>A c.351T>A (p.Phe117Leu) c.*622T>A (n.*622T>A) c.*161T>A (n.*161T>A) c.746T>A (p.Phe249Tyr) c.305T>A (p.Phe102Tyr) | |
4 | g.102267974_102267975del | CA2508559053 | SLC39A8 | c.971_972del (p.Phe324SerfsTer23) c.946_947del (p.Phe316HisfsTer27) c.*1092_*1093del (n.*1092_*1093del) c.*1067_*1068del (n.*1067_*1068del) n.879_880del c.350_351del (p.Phe117SerfsTer23) c.*621_*622del (n.*621_*622del) c.*160_*161del (n.*160_*161del) c.745_746del (p.Phe249HisfsTer27) c.304_305del (p.Phe102HisfsTer27) | |
4 | g.102267974A>C | CA357750011 | SLC39A8 | c.971T>G (p.Phe324Cys) c.946T>G (p.Phe316Val) c.*1092T>G (n.*1092T>G) c.*1067T>G (n.*1067T>G) n.879T>G c.350T>G (p.Phe117Cys) c.*621T>G (n.*621T>G) c.*160T>G (n.*160T>G) c.745T>G (p.Phe249Val) c.304T>G (p.Phe102Val) | |
4 | g.102267974A>G | CA357750013 | SLC39A8 | c.971T>C (p.Phe324Ser) c.946T>C (p.Phe316Leu) c.*1092T>C (n.*1092T>C) c.*1067T>C (n.*1067T>C) n.879T>C c.350T>C (p.Phe117Ser) c.*621T>C (n.*621T>C) c.*160T>C (n.*160T>C) c.745T>C (p.Phe249Leu) c.304T>C (p.Phe102Leu) | |
4 | g.102267974A>T | CA357750012 | SLC39A8 | c.971T>A (p.Phe324Tyr) c.946T>A (p.Phe316Ile) c.*1092T>A (n.*1092T>A) c.*1067T>A (n.*1067T>A) n.879T>A c.350T>A (p.Phe117Tyr) c.*621T>A (n.*621T>A) c.*160T>A (n.*160T>A) c.745T>A (p.Phe249Ile) c.304T>A (p.Phe102Ile) | |
4 | g.102267975A= | CA1481301247 | SLC39A8 | c.970T= (p.Phe324=) c.945T= (p.Asn315=) c.*1091T= (n.*1091T=) c.*1066T= (n.*1066T=) n.878T= c.349T= (p.Phe117=) c.*620T= (n.*620T=) c.*159T= (n.*159T=) c.744T= (p.Asn248=) c.303T= (p.Asn101=) | |
4 | g.102267975A>C | CA357750014 | SLC39A8 | c.970T>G (p.Phe324Val) c.945T>G (p.Asn315Lys) c.*1091T>G (n.*1091T>G) c.*1066T>G (n.*1066T>G) n.878T>G c.349T>G (p.Phe117Val) c.*620T>G (n.*620T>G) c.*159T>G (n.*159T>G) c.744T>G (p.Asn248Lys) c.303T>G (p.Asn101Lys) | |
4 | g.102267975A>G | CA440807940 | SLC39A8 | c.970T>C (p.Phe324Leu) c.945T>C (p.Asn315=) c.*1091T>C (n.*1091T>C) c.*1066T>C (n.*1066T>C) n.878T>C c.349T>C (p.Phe117Leu) c.*620T>C (n.*620T>C) c.*159T>C (n.*159T>C) c.744T>C (p.Asn248=) c.303T>C (p.Asn101=) | dbSNP gnomAD v4 COSMIC |
4 | g.102267975A>T | CA357750015 | SLC39A8 | c.970T>A (p.Phe324Ile) c.945T>A (p.Asn315Lys) c.*1091T>A (n.*1091T>A) c.*1066T>A (n.*1066T>A) n.878T>A c.349T>A (p.Phe117Ile) c.*620T>A (n.*620T>A) c.*159T>A (n.*159T>A) c.744T>A (p.Asn248Lys) c.303T>A (p.Asn101Lys) | |
4 | g.102267976T>A | CA357750016 | SLC39A8 | c.969A>T (p.Gln323His) c.944A>T (p.Asn315Ile) c.*1090A>T (n.*1090A>T) c.*1065A>T (n.*1065A>T) n.877A>T c.348A>T (p.Gln116His) c.*619A>T (n.*619A>T) c.*158A>T (n.*158A>T) c.743A>T (p.Asn248Ile) c.302A>T (p.Asn101Ile) | |
4 | g.102267976T>C | CA357750017 | SLC39A8 | c.969A>G (p.Gln323=) c.944A>G (p.Asn315Ser) c.*1090A>G (n.*1090A>G) c.*1065A>G (n.*1065A>G) n.877A>G c.348A>G (p.Gln116=) c.*619A>G (n.*619A>G) c.*158A>G (n.*158A>G) c.743A>G (p.Asn248Ser) c.302A>G (p.Asn101Ser) | gnomAD v4 |
4 | g.102267976T>G | CA357750018 | SLC39A8 | c.969A>C (p.Gln323His) c.944A>C (p.Asn315Thr) c.*1090A>C (n.*1090A>C) c.*1065A>C (n.*1065A>C) n.877A>C c.348A>C (p.Gln116His) c.*619A>C (n.*619A>C) c.*158A>C (n.*158A>C) c.743A>C (p.Asn248Thr) c.302A>C (p.Asn101Thr) | |
4 | g.102267977T>A | CA357750019 | SLC39A8 | c.968A>T (p.Gln323Leu) c.943A>T (p.Asn315Tyr) c.*1089A>T (n.*1089A>T) c.*1064A>T (n.*1064A>T) n.876A>T c.347A>T (p.Gln116Leu) c.*618A>T (n.*618A>T) c.*157A>T (n.*157A>T) c.742A>T (p.Asn248Tyr) c.301A>T (p.Asn101Tyr) | |
4 | g.102267977T>C | CA357750020 | SLC39A8 | c.968A>G (p.Gln323Arg) c.943A>G (p.Asn315Asp) c.*1089A>G (n.*1089A>G) c.*1064A>G (n.*1064A>G) n.876A>G c.347A>G (p.Gln116Arg) c.*618A>G (n.*618A>G) c.*157A>G (n.*157A>G) c.742A>G (p.Asn248Asp) c.301A>G (p.Asn101Asp) | |
4 | g.102267977T>G | CA357750021 | SLC39A8 | c.968A>C (p.Gln323Pro) c.943A>C (p.Asn315His) c.*1089A>C (n.*1089A>C) c.*1064A>C (n.*1064A>C) n.876A>C c.347A>C (p.Gln116Pro) c.*618A>C (n.*618A>C) c.*157A>C (n.*157A>C) c.742A>C (p.Asn248His) c.301A>C (p.Asn101His) | |
4 | g.102267978G>A | CA440807943 | SLC39A8 | c.967C>T (p.Gln323Ter) c.942C>T (p.His314=) c.*1088C>T (n.*1088C>T) c.*1063C>T (n.*1063C>T) n.875C>T c.346C>T (p.Gln116Ter) c.*617C>T (n.*617C>T) c.*156C>T (n.*156C>T) c.741C>T (p.His247=) c.300C>T (p.His100=) | COSMIC |
4 | g.102267978G>C | CA357750022 | SLC39A8 | c.967C>G (p.Gln323Glu) c.942C>G (p.His314Gln) c.*1088C>G (n.*1088C>G) c.*1063C>G (n.*1063C>G) n.875C>G c.346C>G (p.Gln116Glu) c.*617C>G (n.*617C>G) c.*156C>G (n.*156C>G) c.741C>G (p.His247Gln) c.300C>G (p.His100Gln) | |
4 | g.102267978G>T | CA357750023 | SLC39A8 | c.967C>A (p.Gln323Lys) c.942C>A (p.His314Gln) c.*1088C>A (n.*1088C>A) c.*1063C>A (n.*1063C>A) n.875C>A c.346C>A (p.Gln116Lys) c.*617C>A (n.*617C>A) c.*156C>A (n.*156C>A) c.741C>A (p.His247Gln) c.300C>A (p.His100Gln) | |
4 | g.102267978_102267986del | CA2561237362 | SLC39A8 | c.959_967del (p.Cys320Ter) c.934_942del (p.Ala312_His314del) c.*1080_*1088del (n.*1080_*1088del) c.*1055_*1063del (n.*1055_*1063del) n.867_875del c.338_346del (p.Cys113Ter) c.*609_*617del (n.*609_*617del) c.*148_*156del (n.*148_*156del) c.733_741del (p.Ala245_His247del) c.292_300del (p.Ala98_His100del) | |
4 | g.102267979T>A | CA357750024 | SLC39A8 | c.966A>T (p.Pro322=) c.941A>T (p.His314Leu) c.*1087A>T (n.*1087A>T) c.*1062A>T (n.*1062A>T) n.874A>T c.345A>T (p.Pro115=) c.*616A>T (n.*616A>T) c.*155A>T (n.*155A>T) c.740A>T (p.His247Leu) c.299A>T (p.His100Leu) | |
4 | g.102267979T>C | CA357750025 | SLC39A8 | c.966A>G (p.Pro322=) c.941A>G (p.His314Arg) c.*1087A>G (n.*1087A>G) c.*1062A>G (n.*1062A>G) n.874A>G c.345A>G (p.Pro115=) c.*616A>G (n.*616A>G) c.*155A>G (n.*155A>G) c.740A>G (p.His247Arg) c.299A>G (p.His100Arg) | |
4 | g.102267979T>G | CA357750026 | SLC39A8 | c.966A>C (p.Pro322=) c.941A>C (p.His314Pro) c.*1087A>C (n.*1087A>C) c.*1062A>C (n.*1062A>C) n.874A>C c.345A>C (p.Pro115=) c.*616A>C (n.*616A>C) c.*155A>C (n.*155A>C) c.740A>C (p.His247Pro) c.299A>C (p.His100Pro) | |
4 | g.102267980G>A | CA357750029 | SLC39A8 | c.965C>T (p.Pro322Leu) c.940C>T (p.His314Tyr) c.*1086C>T (n.*1086C>T) c.*1061C>T (n.*1061C>T) n.873C>T c.344C>T (p.Pro115Leu) c.*615C>T (n.*615C>T) c.*154C>T (n.*154C>T) c.739C>T (p.His247Tyr) c.298C>T (p.His100Tyr) | |
4 | g.102267980G>C | CA357750028 | SLC39A8 | c.965C>G (p.Pro322Arg) c.940C>G (p.His314Asp) c.*1086C>G (n.*1086C>G) c.*1061C>G (n.*1061C>G) n.873C>G c.344C>G (p.Pro115Arg) c.*615C>G (n.*615C>G) c.*154C>G (n.*154C>G) c.739C>G (p.His247Asp) c.298C>G (p.His100Asp) | |
4 | g.102267980G>T | CA357750027 | SLC39A8 | c.965C>A (p.Pro322Gln) c.940C>A (p.His314Asn) c.*1086C>A (n.*1086C>A) c.*1061C>A (n.*1061C>A) n.873C>A c.344C>A (p.Pro115Gln) c.*615C>A (n.*615C>A) c.*154C>A (n.*154C>A) c.739C>A (p.His247Asn) c.298C>A (p.His100Asn) | |
4 | g.102267981G>A | CA440807945 | SLC39A8 | c.964C>T (p.Pro322Ser) c.939C>T (p.Leu313=) c.*1085C>T (n.*1085C>T) c.*1060C>T (n.*1060C>T) n.872C>T c.343C>T (p.Pro115Ser) c.*614C>T (n.*614C>T) c.*153C>T (n.*153C>T) c.738C>T (p.Leu246=) c.297C>T (p.Leu99=) | COSMIC COSMIC |
4 | g.102267981G>C | CA440807946 | SLC39A8 | c.964C>G (p.Pro322Ala) c.939C>G (p.Leu313=) c.*1085C>G (n.*1085C>G) c.*1060C>G (n.*1060C>G) n.872C>G c.343C>G (p.Pro115Ala) c.*614C>G (n.*614C>G) c.*153C>G (n.*153C>G) c.738C>G (p.Leu246=) c.297C>G (p.Leu99=) | |
4 | g.102267981G>T | CA440807948 | SLC39A8 | c.964C>A (p.Pro322Thr) c.939C>A (p.Leu313=) c.*1085C>A (n.*1085C>A) c.*1060C>A (n.*1060C>A) n.872C>A c.343C>A (p.Pro115Thr) c.*614C>A (n.*614C>A) c.*153C>A (n.*153C>A) c.738C>A (p.Leu246=) c.297C>A (p.Leu99=) | |
4 | g.102267982A>C | CA357750030 | SLC39A8 | c.963T>G (p.Pro321=) c.938T>G (p.Leu313Arg) c.*1084T>G (n.*1084T>G) c.*1059T>G (n.*1059T>G) n.871T>G c.342T>G (p.Pro114=) c.*613T>G (n.*613T>G) c.*152T>G (n.*152T>G) c.737T>G (p.Leu246Arg) c.296T>G (p.Leu99Arg) | |
4 | g.102267982A>G | CA357750031 | SLC39A8 | c.963T>C (p.Pro321=) c.938T>C (p.Leu313Pro) c.*1084T>C (n.*1084T>C) c.*1059T>C (n.*1059T>C) n.871T>C c.342T>C (p.Pro114=) c.*613T>C (n.*613T>C) c.*152T>C (n.*152T>C) c.737T>C (p.Leu246Pro) c.296T>C (p.Leu99Pro) | |
4 | g.102267982A>T | CA357750032 | SLC39A8 | c.963T>A (p.Pro321=) c.938T>A (p.Leu313His) c.*1084T>A (n.*1084T>A) c.*1059T>A (n.*1059T>A) n.871T>A c.342T>A (p.Pro114=) c.*613T>A (n.*613T>A) c.*152T>A (n.*152T>A) c.737T>A (p.Leu246His) c.296T>A (p.Leu99His) | |
4 | g.102267983G>A | CA357750033 | SLC39A8 | c.962C>T (p.Pro321Leu) c.937C>T (p.Leu313Phe) c.*1083C>T (n.*1083C>T) c.*1058C>T (n.*1058C>T) n.870C>T c.341C>T (p.Pro114Leu) c.*612C>T (n.*612C>T) c.*151C>T (n.*151C>T) c.736C>T (p.Leu246Phe) c.295C>T (p.Leu99Phe) | |
4 | g.102267983G>C | CA357750034 | SLC39A8 | c.962C>G (p.Pro321Arg) c.937C>G (p.Leu313Val) c.*1083C>G (n.*1083C>G) c.*1058C>G (n.*1058C>G) n.870C>G c.341C>G (p.Pro114Arg) c.*612C>G (n.*612C>G) c.*151C>G (n.*151C>G) c.736C>G (p.Leu246Val) c.295C>G (p.Leu99Val) | |
4 | g.102267983G>T | CA357750035 | SLC39A8 | c.962C>A (p.Pro321His) c.937C>A (p.Leu313Ile) c.*1083C>A (n.*1083C>A) c.*1058C>A (n.*1058C>A) n.870C>A c.341C>A (p.Pro114His) c.*612C>A (n.*612C>A) c.*151C>A (n.*151C>A) c.736C>A (p.Leu246Ile) c.295C>A (p.Leu99Ile) | |
4 | g.102267984G>A | CA440807949 | SLC39A8 | c.961C>T (p.Pro321Ser) c.936C>T (p.Ala312=) c.*1082C>T (n.*1082C>T) c.*1057C>T (n.*1057C>T) n.869C>T c.340C>T (p.Pro114Ser) c.*611C>T (n.*611C>T) c.*150C>T (n.*150C>T) c.735C>T (p.Ala245=) c.294C>T (p.Ala98=) | |
4 | g.102267984G>C | CA440807951 | SLC39A8 | c.961C>G (p.Pro321Ala) c.936C>G (p.Ala312=) c.*1082C>G (n.*1082C>G) c.*1057C>G (n.*1057C>G) n.869C>G c.340C>G (p.Pro114Ala) c.*611C>G (n.*611C>G) c.*150C>G (n.*150C>G) c.735C>G (p.Ala245=) c.294C>G (p.Ala98=) | |
4 | g.102267984G>T | CA440807953 | SLC39A8 | c.961C>A (p.Pro321Thr) c.936C>A (p.Ala312=) c.*1082C>A (n.*1082C>A) c.*1057C>A (n.*1057C>A) n.869C>A c.340C>A (p.Pro114Thr) c.*611C>A (n.*611C>A) c.*150C>A (n.*150C>A) c.735C>A (p.Ala245=) c.294C>A (p.Ala98=) | |
4 | g.102267985G>A | CA357750036 | SLC39A8 | c.960C>T (p.Cys320=) c.935C>T (p.Ala312Val) c.*1081C>T (n.*1081C>T) c.*1056C>T (n.*1056C>T) n.868C>T c.339C>T (p.Cys113=) c.*610C>T (n.*610C>T) c.*149C>T (n.*149C>T) c.734C>T (p.Ala245Val) c.293C>T (p.Ala98Val) | |
4 | g.102267985G>C | CA3025545 | SLC39A8 | c.960C>G (p.Cys320Trp) c.935C>G (p.Ala312Gly) c.*1081C>G (n.*1081C>G) c.*1056C>G (n.*1056C>G) n.868C>G c.339C>G (p.Cys113Trp) c.*610C>G (n.*610C>G) c.*149C>G (n.*149C>G) c.734C>G (p.Ala245Gly) c.293C>G (p.Ala98Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102267985G= | CA1481301248 | SLC39A8 | c.960C= (p.Cys320=) c.935C= (p.Ala312=) c.*1081C= (n.*1081C=) c.*1056C= (n.*1056C=) n.868C= c.339C= (p.Cys113=) c.*610C= (n.*610C=) c.*149C= (n.*149C=) c.734C= (p.Ala245=) c.293C= (p.Ala98=) | |
4 | g.102267985G>T | CA357750037 | SLC39A8 | c.960C>A (p.Cys320Ter) c.935C>A (p.Ala312Asp) c.*1081C>A (n.*1081C>A) c.*1056C>A (n.*1056C>A) n.868C>A c.339C>A (p.Cys113Ter) c.*610C>A (n.*610C>A) c.*149C>A (n.*149C>A) c.734C>A (p.Ala245Asp) c.293C>A (p.Ala98Asp) | |
4 | g.102267986C>A | CA357750038 | SLC39A8 | c.959G>T (p.Cys320Phe) c.934G>T (p.Ala312Ser) c.*1080G>T (n.*1080G>T) c.*1055G>T (n.*1055G>T) n.867G>T c.338G>T (p.Cys113Phe) c.*609G>T (n.*609G>T) c.*148G>T (n.*148G>T) c.733G>T (p.Ala245Ser) c.292G>T (p.Ala98Ser) | |
4 | g.102267986C>G | CA357750039 | SLC39A8 | c.959G>C (p.Cys320Ser) c.934G>C (p.Ala312Pro) c.*1080G>C (n.*1080G>C) c.*1055G>C (n.*1055G>C) n.867G>C c.338G>C (p.Cys113Ser) c.*609G>C (n.*609G>C) c.*148G>C (n.*148G>C) c.733G>C (p.Ala245Pro) c.292G>C (p.Ala98Pro) | |
4 | g.102267986C>T | CA357750040 | SLC39A8 | c.959G>A (p.Cys320Tyr) c.934G>A (p.Ala312Thr) c.*1080G>A (n.*1080G>A) c.*1055G>A (n.*1055G>A) n.867G>A c.338G>A (p.Cys113Tyr) c.*609G>A (n.*609G>A) c.*148G>A (n.*148G>A) c.733G>A (p.Ala245Thr) c.292G>A (p.Ala98Thr) | |
4 | g.102267987A>C | CA357750041 | SLC39A8 | c.958T>G (p.Cys320Gly) c.933T>G (p.Asp311Glu) c.*1079T>G (n.*1079T>G) c.*1054T>G (n.*1054T>G) n.866T>G c.337T>G (p.Cys113Gly) c.*608T>G (n.*608T>G) c.*147T>G (n.*147T>G) c.732T>G (p.Asp244Glu) c.291T>G (p.Asp97Glu) | |
4 | g.102267987A>G | CA440807956 | SLC39A8 | c.958T>C (p.Cys320Arg) c.933T>C (p.Asp311=) c.*1079T>C (n.*1079T>C) c.*1054T>C (n.*1054T>C) n.866T>C c.337T>C (p.Cys113Arg) c.*608T>C (n.*608T>C) c.*147T>C (n.*147T>C) c.732T>C (p.Asp244=) c.291T>C (p.Asp97=) | gnomAD v4 |
4 | g.102267987A>T | CA357750042 | SLC39A8 | c.958T>A (p.Cys320Ser) c.933T>A (p.Asp311Glu) c.*1079T>A (n.*1079T>A) c.*1054T>A (n.*1054T>A) n.866T>A c.337T>A (p.Cys113Ser) c.*608T>A (n.*608T>A) c.*147T>A (n.*147T>A) c.732T>A (p.Asp244Glu) c.291T>A (p.Asp97Glu) | |
4 | g.102267988T>A | CA357750043 | SLC39A8 | c.957A>T (p.Arg319=) c.932A>T (p.Asp311Val) c.*1078A>T (n.*1078A>T) c.*1053A>T (n.*1053A>T) n.865A>T c.336A>T (p.Arg112=) c.*607A>T (n.*607A>T) c.*146A>T (n.*146A>T) c.731A>T (p.Asp244Val) c.290A>T (p.Asp97Val) | |
4 | g.102267988T>C | CA357750044 | SLC39A8 | c.957A>G (p.Arg319=) c.932A>G (p.Asp311Gly) c.*1078A>G (n.*1078A>G) c.*1053A>G (n.*1053A>G) n.865A>G c.336A>G (p.Arg112=) c.*607A>G (n.*607A>G) c.*146A>G (n.*146A>G) c.731A>G (p.Asp244Gly) c.290A>G (p.Asp97Gly) | |
4 | g.102267988T>G | CA357750045 | SLC39A8 | c.957A>C (p.Arg319=) c.932A>C (p.Asp311Ala) c.*1078A>C (n.*1078A>C) c.*1053A>C (n.*1053A>C) n.865A>C c.336A>C (p.Arg112=) c.*607A>C (n.*607A>C) c.*146A>C (n.*146A>C) c.731A>C (p.Asp244Ala) c.290A>C (p.Asp97Ala) | |
4 | g.102267989C>A | CA357750046 | SLC39A8 | c.956G>T (p.Arg319Leu) c.931G>T (p.Asp311Tyr) c.*1077G>T (n.*1077G>T) c.*1052G>T (n.*1052G>T) n.864G>T c.335G>T (p.Arg112Leu) c.*606G>T (n.*606G>T) c.*145G>T (n.*145G>T) c.730G>T (p.Asp244Tyr) c.289G>T (p.Asp97Tyr) | |
4 | g.102267989C= | CA1481301249 | SLC39A8 | c.956G= (p.Arg319=) c.931G= (p.Asp311=) c.*1077G= (n.*1077G=) c.*1052G= (n.*1052G=) n.864G= c.335G= (p.Arg112=) c.*606G= (n.*606G=) c.*145G= (n.*145G=) c.730G= (p.Asp244=) c.289G= (p.Asp97=) | |
4 | g.102267989C>G | CA357750047 | SLC39A8 | c.956G>C (p.Arg319Pro) c.931G>C (p.Asp311His) c.*1077G>C (n.*1077G>C) c.*1052G>C (n.*1052G>C) n.864G>C c.335G>C (p.Arg112Pro) c.*606G>C (n.*606G>C) c.*145G>C (n.*145G>C) c.730G>C (p.Asp244His) c.289G>C (p.Asp97His) | |
4 | g.102267989C>T | CA3025546 | SLC39A8 | c.956G>A (p.Arg319Gln) c.931G>A (p.Asp311Asn) c.*1077G>A (n.*1077G>A) c.*1052G>A (n.*1052G>A) n.864G>A c.335G>A (p.Arg112Gln) c.*606G>A (n.*606G>A) c.*145G>A (n.*145G>A) c.730G>A (p.Asp244Asn) c.289G>A (p.Asp97Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102267990G>A | CA3025547 | SLC39A8 | c.955C>T (p.Arg319Ter) c.930C>T (p.Cys310=) c.*1076C>T (n.*1076C>T) c.*1051C>T (n.*1051C>T) n.863C>T c.334C>T (p.Arg112Ter) c.*605C>T (n.*605C>T) c.*144C>T (n.*144C>T) c.729C>T (p.Cys243=) c.288C>T (p.Cys96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.102267990G>C | CA357750048 | SLC39A8 | c.955C>G (p.Arg319Gly) c.930C>G (p.Cys310Trp) c.*1076C>G (n.*1076C>G) c.*1051C>G (n.*1051C>G) n.863C>G c.334C>G (p.Arg112Gly) c.*605C>G (n.*605C>G) c.*144C>G (n.*144C>G) c.729C>G (p.Cys243Trp) c.288C>G (p.Cys96Trp) | |
4 | g.102267990G= | CA1481301250 | SLC39A8 | c.955C= (p.Arg319=) c.930C= (p.Cys310=) c.*1076C= (n.*1076C=) c.*1051C= (n.*1051C=) n.863C= c.334C= (p.Arg112=) c.*605C= (n.*605C=) c.*144C= (n.*144C=) c.729C= (p.Cys243=) c.288C= (p.Cys96=) | |
4 | g.102267990G>T | CA357750049 | SLC39A8 | c.955C>A (p.Arg319=) c.930C>A (p.Cys310Ter) c.*1076C>A (n.*1076C>A) c.*1051C>A (n.*1051C>A) n.863C>A c.334C>A (p.Arg112=) c.*605C>A (n.*605C>A) c.*144C>A (n.*144C>A) c.729C>A (p.Cys243Ter) c.288C>A (p.Cys96Ter) | |
4 | g.102267991C>A | CA357750050 | SLC39A8 | c.954G>T (p.Leu318=) c.929G>T (p.Cys310Phe) c.*1075G>T (n.*1075G>T) c.*1050G>T (n.*1050G>T) n.862G>T c.333G>T (p.Leu111=) c.*604G>T (n.*604G>T) c.*143G>T (n.*143G>T) c.728G>T (p.Cys243Phe) c.287G>T (p.Cys96Phe) | |
4 | g.102267991C>G | CA357750051 | SLC39A8 | c.954G>C (p.Leu318=) c.929G>C (p.Cys310Ser) c.*1075G>C (n.*1075G>C) c.*1050G>C (n.*1050G>C) n.862G>C c.333G>C (p.Leu111=) c.*604G>C (n.*604G>C) c.*143G>C (n.*143G>C) c.728G>C (p.Cys243Ser) c.287G>C (p.Cys96Ser) | |
4 | g.102267991C>T | CA357750052 | SLC39A8 | c.954G>A (p.Leu318=) c.929G>A (p.Cys310Tyr) c.*1075G>A (n.*1075G>A) c.*1050G>A (n.*1050G>A) n.862G>A c.333G>A (p.Leu111=) c.*604G>A (n.*604G>A) c.*143G>A (n.*143G>A) c.728G>A (p.Cys243Tyr) c.287G>A (p.Cys96Tyr) | |
4 | g.102267992A>C | CA357750055 | SLC39A8 | c.953T>G (p.Leu318Arg) c.928T>G (p.Cys310Gly) c.*1074T>G (n.*1074T>G) c.*1049T>G (n.*1049T>G) n.861T>G c.332T>G (p.Leu111Arg) c.*603T>G (n.*603T>G) c.*142T>G (n.*142T>G) c.727T>G (p.Cys243Gly) c.286T>G (p.Cys96Gly) | |
4 | g.102267992A>G | CA357750053 | SLC39A8 | c.953T>C (p.Leu318Pro) c.928T>C (p.Cys310Arg) c.*1074T>C (n.*1074T>C) c.*1049T>C (n.*1049T>C) n.861T>C c.332T>C (p.Leu111Pro) c.*603T>C (n.*603T>C) c.*142T>C (n.*142T>C) c.727T>C (p.Cys243Arg) c.286T>C (p.Cys96Arg) | |
4 | g.102267992A>T | CA357750054 | SLC39A8 | c.953T>A (p.Leu318Gln) c.928T>A (p.Cys310Ser) c.*1074T>A (n.*1074T>A) c.*1049T>A (n.*1049T>A) n.861T>A c.332T>A (p.Leu111Gln) c.*603T>A (n.*603T>A) c.*142T>A (n.*142T>A) c.727T>A (p.Cys243Ser) c.286T>A (p.Cys96Ser) | |
4 | g.102267993G>A | CA3025548 | SLC39A8 | c.952C>T (p.Leu318=) c.927C>T (p.Leu309=) c.*1073C>T (n.*1073C>T) c.*1048C>T (n.*1048C>T) n.860C>T c.331C>T (p.Leu111=) c.*602C>T (n.*602C>T) c.*141C>T (n.*141C>T) c.726C>T (p.Leu242=) c.285C>T (p.Leu95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267993G>C | CA440807962 | SLC39A8 | c.952C>G (p.Leu318Val) c.927C>G (p.Leu309=) c.*1073C>G (n.*1073C>G) c.*1048C>G (n.*1048C>G) n.860C>G c.331C>G (p.Leu111Val) c.*602C>G (n.*602C>G) c.*141C>G (n.*141C>G) c.726C>G (p.Leu242=) c.285C>G (p.Leu95=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267993G= | CA1481301251 | SLC39A8 | c.952C= (p.Leu318=) c.927C= (p.Leu309=) c.*1073C= (n.*1073C=) c.*1048C= (n.*1048C=) n.860C= c.331C= (p.Leu111=) c.*602C= (n.*602C=) c.*141C= (n.*141C=) c.726C= (p.Leu242=) c.285C= (p.Leu95=) | |
4 | g.102267993G>T | CA440807964 | SLC39A8 | c.952C>A (p.Leu318Met) c.927C>A (p.Leu309=) c.*1073C>A (n.*1073C>A) c.*1048C>A (n.*1048C>A) n.860C>A c.331C>A (p.Leu111Met) c.*602C>A (n.*602C>A) c.*141C>A (n.*141C>A) c.726C>A (p.Leu242=) c.285C>A (p.Leu95=) | |
4 | g.102267994A>C | CA357750056 | SLC39A8 | c.951T>G (p.Ala317=) c.926T>G (p.Leu309Arg) c.*1072T>G (n.*1072T>G) c.*1047T>G (n.*1047T>G) n.859T>G c.330T>G (p.Ala110=) c.*601T>G (n.*601T>G) c.*140T>G (n.*140T>G) c.725T>G (p.Leu242Arg) c.284T>G (p.Leu95Arg) | |
4 | g.102267994A>G | CA357750057 | SLC39A8 | c.951T>C (p.Ala317=) c.926T>C (p.Leu309Pro) c.*1072T>C (n.*1072T>C) c.*1047T>C (n.*1047T>C) n.859T>C c.330T>C (p.Ala110=) c.*601T>C (n.*601T>C) c.*140T>C (n.*140T>C) c.725T>C (p.Leu242Pro) c.284T>C (p.Leu95Pro) | |
4 | g.102267994A>T | CA357750058 | SLC39A8 | c.951T>A (p.Ala317=) c.926T>A (p.Leu309His) c.*1072T>A (n.*1072T>A) c.*1047T>A (n.*1047T>A) n.859T>A c.330T>A (p.Ala110=) c.*601T>A (n.*601T>A) c.*140T>A (n.*140T>A) c.725T>A (p.Leu242His) c.284T>A (p.Leu95His) | |
4 | g.102267995G>A | CA357750059 | SLC39A8 | c.950C>T (p.Ala317Val) c.925C>T (p.Leu309Phe) c.*1071C>T (n.*1071C>T) c.*1046C>T (n.*1046C>T) n.858C>T c.329C>T (p.Ala110Val) c.*600C>T (n.*600C>T) c.*139C>T (n.*139C>T) c.724C>T (p.Leu242Phe) c.283C>T (p.Leu95Phe) | |
4 | g.102267995G>C | CA357750060 | SLC39A8 | c.950C>G (p.Ala317Gly) c.925C>G (p.Leu309Val) c.*1071C>G (n.*1071C>G) c.*1046C>G (n.*1046C>G) n.858C>G c.329C>G (p.Ala110Gly) c.*600C>G (n.*600C>G) c.*139C>G (n.*139C>G) c.724C>G (p.Leu242Val) c.283C>G (p.Leu95Val) | |
4 | g.102267995G>T | CA357750061 | SLC39A8 | c.950C>A (p.Ala317Asp) c.925C>A (p.Leu309Ile) c.*1071C>A (n.*1071C>A) c.*1046C>A (n.*1046C>A) n.858C>A c.329C>A (p.Ala110Asp) c.*600C>A (n.*600C>A) c.*139C>A (n.*139C>A) c.724C>A (p.Leu242Ile) c.283C>A (p.Leu95Ile) | |
4 | g.102267995_102267998del | CA2525898141 | SLC39A8 | c.947_950del (p.Asn316IlefsTer?) c.922_925del (p.Thr308SerfsTer30) c.*1068_*1071del (n.*1068_*1071del) c.*1043_*1046del (n.*1043_*1046del) n.855_858del c.326_329del (p.Asn109IlefsTer?) c.*597_*600del (n.*597_*600del) c.*136_*139del (n.*136_*139del) c.721_724del (p.Thr241SerfsTer30) c.280_283del (p.Thr94SerfsTer30) | |
4 | g.102267996C>A | CA440807965 | SLC39A8 | c.949G>T (p.Ala317Ser) c.924G>T (p.Thr308=) c.*1070G>T (n.*1070G>T) c.*1045G>T (n.*1045G>T) n.857G>T c.328G>T (p.Ala110Ser) c.*599G>T (n.*599G>T) c.*138G>T (n.*138G>T) c.723G>T (p.Thr241=) c.282G>T (p.Thr94=) | |
4 | g.102267996C= | CA1481301252 | SLC39A8 | c.949G= (p.Ala317=) c.924G= (p.Thr308=) c.*1070G= (n.*1070G=) c.*1045G= (n.*1045G=) n.857G= c.328G= (p.Ala110=) c.*599G= (n.*599G=) c.*138G= (n.*138G=) c.723G= (p.Thr241=) c.282G= (p.Thr94=) | |
4 | g.102267996C>G | CA440807967 | SLC39A8 | c.949G>C (p.Ala317Pro) c.924G>C (p.Thr308=) c.*1070G>C (n.*1070G>C) c.*1045G>C (n.*1045G>C) n.857G>C c.328G>C (p.Ala110Pro) c.*599G>C (n.*599G>C) c.*138G>C (n.*138G>C) c.723G>C (p.Thr241=) c.282G>C (p.Thr94=) | |
4 | g.102267996C>T | CA3025549 | SLC39A8 | c.949G>A (p.Ala317Thr) c.924G>A (p.Thr308=) c.*1070G>A (n.*1070G>A) c.*1045G>A (n.*1045G>A) n.857G>A c.328G>A (p.Ala110Thr) c.*599G>A (n.*599G>A) c.*138G>A (n.*138G>A) c.723G>A (p.Thr241=) c.282G>A (p.Thr94=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
4 | g.102267997G>A | CA3025550 | SLC39A8 | c.948C>T (p.Asn316=) c.923C>T (p.Thr308Met) c.*1069C>T (n.*1069C>T) c.*1044C>T (n.*1044C>T) n.856C>T c.327C>T (p.Asn109=) c.*598C>T (n.*598C>T) c.*137C>T (n.*137C>T) c.722C>T (p.Thr241Met) c.281C>T (p.Thr94Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102267997G>C | CA357750062 | SLC39A8 | c.948C>G (p.Asn316Lys) c.923C>G (p.Thr308Arg) c.*1069C>G (n.*1069C>G) c.*1044C>G (n.*1044C>G) n.856C>G c.327C>G (p.Asn109Lys) c.*598C>G (n.*598C>G) c.*137C>G (n.*137C>G) c.722C>G (p.Thr241Arg) c.281C>G (p.Thr94Arg) | |
4 | g.102267997G= | CA1481301253 | SLC39A8 | c.948C= (p.Asn316=) c.923C= (p.Thr308=) c.*1069C= (n.*1069C=) c.*1044C= (n.*1044C=) n.856C= c.327C= (p.Asn109=) c.*598C= (n.*598C=) c.*137C= (n.*137C=) c.722C= (p.Thr241=) c.281C= (p.Thr94=) | |
4 | g.102267997G>T | CA357750063 | SLC39A8 | c.948C>A (p.Asn316Lys) c.923C>A (p.Thr308Lys) c.*1069C>A (n.*1069C>A) c.*1044C>A (n.*1044C>A) n.856C>A c.327C>A (p.Asn109Lys) c.*598C>A (n.*598C>A) c.*137C>A (n.*137C>A) c.722C>A (p.Thr241Lys) c.281C>A (p.Thr94Lys) | |
4 | g.102267998T>A | CA357750065 | SLC39A8 | c.947A>T (p.Asn316Ile) c.922A>T (p.Thr308Ser) c.*1068A>T (n.*1068A>T) c.*1043A>T (n.*1043A>T) n.855A>T c.326A>T (p.Asn109Ile) c.*597A>T (n.*597A>T) c.*136A>T (n.*136A>T) c.721A>T (p.Thr241Ser) c.280A>T (p.Thr94Ser) | |
4 | g.102267998T>C | CA357750066 | SLC39A8 | c.947A>G (p.Asn316Ser) c.922A>G (p.Thr308Ala) c.*1068A>G (n.*1068A>G) c.*1043A>G (n.*1043A>G) n.855A>G c.326A>G (p.Asn109Ser) c.*597A>G (n.*597A>G) c.*136A>G (n.*136A>G) c.721A>G (p.Thr241Ala) c.280A>G (p.Thr94Ala) | |
4 | g.102267998T>G | CA357750064 | SLC39A8 | c.947A>C (p.Asn316Thr) c.922A>C (p.Thr308Pro) c.*1068A>C (n.*1068A>C) c.*1043A>C (n.*1043A>C) n.855A>C c.326A>C (p.Asn109Thr) c.*597A>C (n.*597A>C) c.*136A>C (n.*136A>C) c.721A>C (p.Thr241Pro) c.280A>C (p.Thr94Pro) | |
4 | g.102267999T>A | CA440807968 | SLC39A8 | c.946A>T (p.Asn316Tyr) c.921A>T (p.Ile307=) c.*1067A>T (n.*1067A>T) c.*1042A>T (n.*1042A>T) n.854A>T c.325A>T (p.Asn109Tyr) c.*596A>T (n.*596A>T) c.*135A>T (n.*135A>T) c.720A>T (p.Ile240=) c.279A>T (p.Ile93=) | |
4 | g.102267999T>C | CA357750067 | SLC39A8 | c.946A>G (p.Asn316Asp) c.921A>G (p.Ile307Met) c.*1067A>G (n.*1067A>G) c.*1042A>G (n.*1042A>G) n.854A>G c.325A>G (p.Asn109Asp) c.*596A>G (n.*596A>G) c.*135A>G (n.*135A>G) c.720A>G (p.Ile240Met) c.279A>G (p.Ile93Met) | |
4 | g.102267999T>G | CA440807969 | SLC39A8 | c.946A>C (p.Asn316His) c.921A>C (p.Ile307=) c.*1067A>C (n.*1067A>C) c.*1042A>C (n.*1042A>C) n.854A>C c.325A>C (p.Asn109His) c.*596A>C (n.*596A>C) c.*135A>C (n.*135A>C) c.720A>C (p.Ile240=) c.279A>C (p.Ile93=) | |
4 | g.102268000A>C | CA357750068 | SLC39A8 | c.945T>G (p.Asp315Glu) c.920T>G (p.Ile307Arg) c.*1066T>G (n.*1066T>G) c.*1041T>G (n.*1041T>G) n.853T>G c.324T>G (p.Asp108Glu) c.*595T>G (n.*595T>G) c.*134T>G (n.*134T>G) c.719T>G (p.Ile240Arg) c.278T>G (p.Ile93Arg) | |
4 | g.102268000A>G | CA357750069 | SLC39A8 | c.945T>C (p.Asp315=) c.920T>C (p.Ile307Thr) c.*1066T>C (n.*1066T>C) c.*1041T>C (n.*1041T>C) n.853T>C c.324T>C (p.Asp108=) c.*595T>C (n.*595T>C) c.*134T>C (n.*134T>C) c.719T>C (p.Ile240Thr) c.278T>C (p.Ile93Thr) | |
4 | g.102268000A>T | CA357750070 | SLC39A8 | c.945T>A (p.Asp315Glu) c.920T>A (p.Ile307Lys) c.*1066T>A (n.*1066T>A) c.*1041T>A (n.*1041T>A) n.853T>A c.324T>A (p.Asp108Glu) c.*595T>A (n.*595T>A) c.*134T>A (n.*134T>A) c.719T>A (p.Ile240Lys) c.278T>A (p.Ile93Lys) | |
4 | g.102268001T>A | CA357750071 | SLC39A8 | c.944A>T (p.Asp315Val) c.919A>T (p.Ile307Leu) c.*1065A>T (n.*1065A>T) c.*1040A>T (n.*1040A>T) n.852A>T c.323A>T (p.Asp108Val) c.*594A>T (n.*594A>T) c.*133A>T (n.*133A>T) c.718A>T (p.Ile240Leu) c.277A>T (p.Ile93Leu) | dbSNP |
4 | g.102268001T>C | CA357750072 | SLC39A8 | c.944A>G (p.Asp315Gly) c.919A>G (p.Ile307Val) c.*1065A>G (n.*1065A>G) c.*1040A>G (n.*1040A>G) n.852A>G c.323A>G (p.Asp108Gly) c.*594A>G (n.*594A>G) c.*133A>G (n.*133A>G) c.718A>G (p.Ile240Val) c.277A>G (p.Ile93Val) | |
4 | g.102268001T>G | CA357750073 | SLC39A8 | c.944A>C (p.Asp315Ala) c.919A>C (p.Ile307Leu) c.*1065A>C (n.*1065A>C) c.*1040A>C (n.*1040A>C) n.852A>C c.323A>C (p.Asp108Ala) c.*594A>C (n.*594A>C) c.*133A>C (n.*133A>C) c.718A>C (p.Ile240Leu) c.277A>C (p.Ile93Leu) | |
4 | g.102268001T= | CA1481301254 | SLC39A8 | c.944A= (p.Asp315=) c.919A= (p.Ile307=) c.*1065A= (n.*1065A=) c.*1040A= (n.*1040A=) n.852A= c.323A= (p.Asp108=) c.*594A= (n.*594A=) c.*133A= (n.*133A=) c.718A= (p.Ile240=) c.277A= (p.Ile93=) | |
4 | g.102268002C>A | CA357750074 | SLC39A8 | c.943G>T (p.Asp315Tyr) c.918G>T (p.Met306Ile) c.*1064G>T (n.*1064G>T) c.*1039G>T (n.*1039G>T) n.851G>T c.322G>T (p.Asp108Tyr) c.*593G>T (n.*593G>T) c.*132G>T (n.*132G>T) c.717G>T (p.Met239Ile) c.276G>T (p.Met92Ile) | COSMIC COSMIC |
4 | g.102268002C>G | CA357750075 | SLC39A8 | c.943G>C (p.Asp315His) c.918G>C (p.Met306Ile) c.*1064G>C (n.*1064G>C) c.*1039G>C (n.*1039G>C) n.851G>C c.322G>C (p.Asp108His) c.*593G>C (n.*593G>C) c.*132G>C (n.*132G>C) c.717G>C (p.Met239Ile) c.276G>C (p.Met92Ile) | |
4 | g.102268002C>T | CA357750076 | SLC39A8 | c.943G>A (p.Asp315Asn) c.918G>A (p.Met306Ile) c.*1064G>A (n.*1064G>A) c.*1039G>A (n.*1039G>A) n.851G>A c.322G>A (p.Asp108Asn) c.*593G>A (n.*593G>A) c.*132G>A (n.*132G>A) c.717G>A (p.Met239Ile) c.276G>A (p.Met92Ile) | |
4 | g.102268003A>C | CA357750077 | SLC39A8 | c.942T>G (p.Asp314Glu) c.917T>G (p.Met306Arg) c.*1063T>G (n.*1063T>G) c.*1038T>G (n.*1038T>G) n.850T>G c.321T>G (p.Asp107Glu) c.*592T>G (n.*592T>G) c.*131T>G (n.*131T>G) c.716T>G (p.Met239Arg) c.275T>G (p.Met92Arg) | |
4 | g.102268003A>G | CA357750078 | SLC39A8 | c.942T>C (p.Asp314=) c.917T>C (p.Met306Thr) c.*1063T>C (n.*1063T>C) c.*1038T>C (n.*1038T>C) n.850T>C c.321T>C (p.Asp107=) c.*592T>C (n.*592T>C) c.*131T>C (n.*131T>C) c.716T>C (p.Met239Thr) c.275T>C (p.Met92Thr) | |
4 | g.102268003A>T | CA357750079 | SLC39A8 | c.942T>A (p.Asp314Glu) c.917T>A (p.Met306Lys) c.*1063T>A (n.*1063T>A) c.*1038T>A (n.*1038T>A) n.850T>A c.321T>A (p.Asp107Glu) c.*592T>A (n.*592T>A) c.*131T>A (n.*131T>A) c.716T>A (p.Met239Lys) c.275T>A (p.Met92Lys) | |
4 | g.102268004T>A | CA357750082 | SLC39A8 | c.941A>T (p.Asp314Val) c.916A>T (p.Met306Leu) c.*1062A>T (n.*1062A>T) c.*1037A>T (n.*1037A>T) n.849A>T c.320A>T (p.Asp107Val) c.*591A>T (n.*591A>T) c.*130A>T (n.*130A>T) c.715A>T (p.Met239Leu) c.274A>T (p.Met92Leu) | gnomAD v4 |
4 | g.102268004T>C | CA357750081 | SLC39A8 | c.941A>G (p.Asp314Gly) c.916A>G (p.Met306Val) c.*1062A>G (n.*1062A>G) c.*1037A>G (n.*1037A>G) n.849A>G c.320A>G (p.Asp107Gly) c.*591A>G (n.*591A>G) c.*130A>G (n.*130A>G) c.715A>G (p.Met239Val) c.274A>G (p.Met92Val) | |
4 | g.102268004T>G | CA357750080 | SLC39A8 | c.941A>C (p.Asp314Ala) c.916A>C (p.Met306Leu) c.*1062A>C (n.*1062A>C) c.*1037A>C (n.*1037A>C) n.849A>C c.320A>C (p.Asp107Ala) c.*591A>C (n.*591A>C) c.*130A>C (n.*130A>C) c.715A>C (p.Met239Leu) c.274A>C (p.Met92Leu) | |
4 | g.102268005C>A | CA357750083 | SLC39A8 | c.940G>T (p.Asp314Tyr) c.915G>T (p.Trp305Cys) c.*1061G>T (n.*1061G>T) c.*1036G>T (n.*1036G>T) n.848G>T c.319G>T (p.Asp107Tyr) c.*590G>T (n.*590G>T) c.*129G>T (n.*129G>T) c.714G>T (p.Trp238Cys) c.273G>T (p.Trp91Cys) | |
4 | g.102268005C= | CA1481301255 | SLC39A8 | c.940G= (p.Asp314=) c.915G= (p.Trp305=) c.*1061G= (n.*1061G=) c.*1036G= (n.*1036G=) n.848G= c.319G= (p.Asp107=) c.*590G= (n.*590G=) c.*129G= (n.*129G=) c.714G= (p.Trp238=) c.273G= (p.Trp91=) | |
4 | g.102268005C>G | CA357750084 | SLC39A8 | c.940G>C (p.Asp314His) c.915G>C (p.Trp305Cys) c.*1061G>C (n.*1061G>C) c.*1036G>C (n.*1036G>C) n.848G>C c.319G>C (p.Asp107His) c.*590G>C (n.*590G>C) c.*129G>C (n.*129G>C) c.714G>C (p.Trp238Cys) c.273G>C (p.Trp91Cys) | ClinVar dbSNP |
4 | g.102268005C>T | CA357750085 | SLC39A8 | c.940G>A (p.Asp314Asn) c.915G>A (p.Trp305Ter) c.*1061G>A (n.*1061G>A) c.*1036G>A (n.*1036G>A) n.848G>A c.319G>A (p.Asp107Asn) c.*590G>A (n.*590G>A) c.*129G>A (n.*129G>A) c.714G>A (p.Trp238Ter) c.273G>A (p.Trp91Ter) | |
4 | g.102268006C>A | CA357750086 | SLC39A8 | c.939G>T (p.Leu313=) c.914G>T (p.Trp305Leu) c.*1060G>T (n.*1060G>T) c.*1035G>T (n.*1035G>T) n.847G>T c.318G>T (p.Leu106=) c.*589G>T (n.*589G>T) c.*128G>T (n.*128G>T) c.713G>T (p.Trp238Leu) c.272G>T (p.Trp91Leu) | |
4 | g.102268006C>G | CA357750087 | SLC39A8 | c.939G>C (p.Leu313=) c.914G>C (p.Trp305Ser) c.*1060G>C (n.*1060G>C) c.*1035G>C (n.*1035G>C) n.847G>C c.318G>C (p.Leu106=) c.*589G>C (n.*589G>C) c.*128G>C (n.*128G>C) c.713G>C (p.Trp238Ser) c.272G>C (p.Trp91Ser) | |
4 | g.102268006C>T | CA357750088 | SLC39A8 | c.939G>A (p.Leu313=) c.914G>A (p.Trp305Ter) c.*1060G>A (n.*1060G>A) c.*1035G>A (n.*1035G>A) n.847G>A c.318G>A (p.Leu106=) c.*589G>A (n.*589G>A) c.*128G>A (n.*128G>A) c.713G>A (p.Trp238Ter) c.272G>A (p.Trp91Ter) | gnomAD v4 |
4 | g.102268007A>C | CA357750089 | SLC39A8 | c.938T>G (p.Leu313Arg) c.913T>G (p.Trp305Gly) c.*1059T>G (n.*1059T>G) c.*1034T>G (n.*1034T>G) n.846T>G c.317T>G (p.Leu106Arg) c.*588T>G (n.*588T>G) c.*127T>G (n.*127T>G) c.712T>G (p.Trp238Gly) c.271T>G (p.Trp91Gly) | |
4 | g.102268007A>G | CA357750090 | SLC39A8 | c.938T>C (p.Leu313Pro) c.913T>C (p.Trp305Arg) c.*1059T>C (n.*1059T>C) c.*1034T>C (n.*1034T>C) n.846T>C c.317T>C (p.Leu106Pro) c.*588T>C (n.*588T>C) c.*127T>C (n.*127T>C) c.712T>C (p.Trp238Arg) c.271T>C (p.Trp91Arg) | |
4 | g.102268007A>T | CA357750091 | SLC39A8 | c.938T>A (p.Leu313Gln) c.913T>A (p.Trp305Arg) c.*1059T>A (n.*1059T>A) c.*1034T>A (n.*1034T>A) n.846T>A c.317T>A (p.Leu106Gln) c.*588T>A (n.*588T>A) c.*127T>A (n.*127T>A) c.712T>A (p.Trp238Arg) c.271T>A (p.Trp91Arg) | |
4 | g.102268008G>A | CA440807974 | SLC39A8 | c.937C>T (p.Leu313=) c.912C>T (p.Ala304=) c.*1058C>T (n.*1058C>T) c.*1033C>T (n.*1033C>T) n.845C>T c.316C>T (p.Leu106=) c.*587C>T (n.*587C>T) c.*126C>T (n.*126C>T) c.711C>T (p.Ala237=) c.270C>T (p.Ala90=) | |
4 | g.102268008G>C | CA440807975 | SLC39A8 | c.937C>G (p.Leu313Val) c.912C>G (p.Ala304=) c.*1058C>G (n.*1058C>G) c.*1033C>G (n.*1033C>G) n.845C>G c.316C>G (p.Leu106Val) c.*587C>G (n.*587C>G) c.*126C>G (n.*126C>G) c.711C>G (p.Ala237=) c.270C>G (p.Ala90=) | |
4 | g.102268008G>T | CA440807977 | SLC39A8 | c.937C>A (p.Leu313Met) c.912C>A (p.Ala304=) c.*1058C>A (n.*1058C>A) c.*1033C>A (n.*1033C>A) n.845C>A c.316C>A (p.Leu106Met) c.*587C>A (n.*587C>A) c.*126C>A (n.*126C>A) c.711C>A (p.Ala237=) c.270C>A (p.Ala90=) | |
4 | g.102268009G>A | CA357750092 | SLC39A8 | c.936C>T (p.Cys312=) c.911C>T (p.Ala304Val) c.*1057C>T (n.*1057C>T) c.*1032C>T (n.*1032C>T) n.844C>T c.315C>T (p.Cys105=) c.*586C>T (n.*586C>T) c.*125C>T (n.*125C>T) c.710C>T (p.Ala237Val) c.269C>T (p.Ala90Val) | |
4 | g.102268009G>C | CA357750093 | SLC39A8 | c.936C>G (p.Cys312Trp) c.911C>G (p.Ala304Gly) c.*1057C>G (n.*1057C>G) c.*1032C>G (n.*1032C>G) n.844C>G c.315C>G (p.Cys105Trp) c.*586C>G (n.*586C>G) c.*125C>G (n.*125C>G) c.710C>G (p.Ala237Gly) c.269C>G (p.Ala90Gly) | |
4 | g.102268009G>T | CA357750094 | SLC39A8 | c.936C>A (p.Cys312Ter) c.911C>A (p.Ala304Asp) c.*1057C>A (n.*1057C>A) c.*1032C>A (n.*1032C>A) n.844C>A c.315C>A (p.Cys105Ter) c.*586C>A (n.*586C>A) c.*125C>A (n.*125C>A) c.710C>A (p.Ala237Asp) c.269C>A (p.Ala90Asp) | |
4 | g.102268010C>A | CA357750097 | SLC39A8 | c.935G>T (p.Cys312Phe) c.910G>T (p.Ala304Ser) c.*1056G>T (n.*1056G>T) c.*1031G>T (n.*1031G>T) n.843G>T c.314G>T (p.Cys105Phe) c.*585G>T (n.*585G>T) c.*124G>T (n.*124G>T) c.709G>T (p.Ala237Ser) c.268G>T (p.Ala90Ser) | |
4 | g.102268010C>G | CA357750096 | SLC39A8 | c.935G>C (p.Cys312Ser) c.910G>C (p.Ala304Pro) c.*1056G>C (n.*1056G>C) c.*1031G>C (n.*1031G>C) n.843G>C c.314G>C (p.Cys105Ser) c.*585G>C (n.*585G>C) c.*124G>C (n.*124G>C) c.709G>C (p.Ala237Pro) c.268G>C (p.Ala90Pro) | |
4 | g.102268010C>T | CA357750095 | SLC39A8 | c.935G>A (p.Cys312Tyr) c.910G>A (p.Ala304Thr) c.*1056G>A (n.*1056G>A) c.*1031G>A (n.*1031G>A) n.843G>A c.314G>A (p.Cys105Tyr) c.*585G>A (n.*585G>A) c.*124G>A (n.*124G>A) c.709G>A (p.Ala237Thr) c.268G>A (p.Ala90Thr) | |
4 | g.102268011A= | CA1481301256 | SLC39A8 | c.934T= (p.Cys312=) c.909T= (p.Ile303=) c.*1055T= (n.*1055T=) c.*1030T= (n.*1030T=) n.842T= c.313T= (p.Cys105=) c.*584T= (n.*584T=) c.*123T= (n.*123T=) c.708T= (p.Ile236=) c.267T= (p.Ile89=) | |
4 | g.102268011A>C | CA357750098 | SLC39A8 | c.934T>G (p.Cys312Gly) c.909T>G (p.Ile303Met) c.*1055T>G (n.*1055T>G) c.*1030T>G (n.*1030T>G) n.842T>G c.313T>G (p.Cys105Gly) c.*584T>G (n.*584T>G) c.*123T>G (n.*123T>G) c.708T>G (p.Ile236Met) c.267T>G (p.Ile89Met) | gnomAD v4 |
4 | g.102268011A>G | CA3025551 | SLC39A8 | c.934T>C (p.Cys312Arg) c.909T>C (p.Ile303=) c.*1055T>C (n.*1055T>C) c.*1030T>C (n.*1030T>C) n.842T>C c.313T>C (p.Cys105Arg) c.*584T>C (n.*584T>C) c.*123T>C (n.*123T>C) c.708T>C (p.Ile236=) c.267T>C (p.Ile89=) | dbSNP ExAC gnomAD v2 |
4 | g.102268011A>T | CA440807981 | SLC39A8 | c.934T>A (p.Cys312Ser) c.909T>A (p.Ile303=) c.*1055T>A (n.*1055T>A) c.*1030T>A (n.*1030T>A) n.842T>A c.313T>A (p.Cys105Ser) c.*584T>A (n.*584T>A) c.*123T>A (n.*123T>A) c.708T>A (p.Ile236=) c.267T>A (p.Ile89=) | |
4 | g.102268012A= | CA1481301257 | SLC39A8 | c.933T= (p.Asp311=) c.908T= (p.Ile303=) c.*1054T= (n.*1054T=) c.*1029T= (n.*1029T=) n.841T= c.312T= (p.Asp104=) c.*583T= (n.*583T=) c.*122T= (n.*122T=) c.707T= (p.Ile236=) c.266T= (p.Ile89=) | |
4 | g.102268012A>C | CA357750099 | SLC39A8 | c.933T>G (p.Asp311Glu) c.908T>G (p.Ile303Ser) c.*1054T>G (n.*1054T>G) c.*1029T>G (n.*1029T>G) n.841T>G c.312T>G (p.Asp104Glu) c.*583T>G (n.*583T>G) c.*122T>G (n.*122T>G) c.707T>G (p.Ile236Ser) c.266T>G (p.Ile89Ser) | |
4 | g.102268012A>G | CA3025552 | SLC39A8 | c.933T>C (p.Asp311=) c.908T>C (p.Ile303Thr) c.*1054T>C (n.*1054T>C) c.*1029T>C (n.*1029T>C) n.841T>C c.312T>C (p.Asp104=) c.*583T>C (n.*583T>C) c.*122T>C (n.*122T>C) c.707T>C (p.Ile236Thr) c.266T>C (p.Ile89Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102268012A>T | CA357750100 | SLC39A8 | c.933T>A (p.Asp311Glu) c.908T>A (p.Ile303Asn) c.*1054T>A (n.*1054T>A) c.*1029T>A (n.*1029T>A) n.841T>A c.312T>A (p.Asp104Glu) c.*583T>A (n.*583T>A) c.*122T>A (n.*122T>A) c.707T>A (p.Ile236Asn) c.266T>A (p.Ile89Asn) | dbSNP |
4 | g.102268013T>A | CA357750103 | SLC39A8 | c.932A>T (p.Asp311Val) c.907A>T (p.Ile303Phe) c.*1053A>T (n.*1053A>T) c.*1028A>T (n.*1028A>T) n.840A>T c.311A>T (p.Asp104Val) c.*582A>T (n.*582A>T) c.*121A>T (n.*121A>T) c.706A>T (p.Ile236Phe) c.265A>T (p.Ile89Phe) | |
4 | g.102268013T>C | CA357750102 | SLC39A8 | c.932A>G (p.Asp311Gly) c.907A>G (p.Ile303Val) c.*1053A>G (n.*1053A>G) c.*1028A>G (n.*1028A>G) n.840A>G c.311A>G (p.Asp104Gly) c.*582A>G (n.*582A>G) c.*121A>G (n.*121A>G) c.706A>G (p.Ile236Val) c.265A>G (p.Ile89Val) | |
4 | g.102268013T>G | CA357750101 | SLC39A8 | c.932A>C (p.Asp311Ala) c.907A>C (p.Ile303Leu) c.*1053A>C (n.*1053A>C) c.*1028A>C (n.*1028A>C) n.840A>C c.311A>C (p.Asp104Ala) c.*582A>C (n.*582A>C) c.*121A>C (n.*121A>C) c.706A>C (p.Ile236Leu) c.265A>C (p.Ile89Leu) | |
4 | g.102268014C>A | CA440807983 | SLC39A8 | c.931G>T (p.Asp311Tyr) c.906G>T (p.Thr302=) c.*1052G>T (n.*1052G>T) c.*1027G>T (n.*1027G>T) n.839G>T c.310G>T (p.Asp104Tyr) c.*581G>T (n.*581G>T) c.*120G>T (n.*120G>T) c.705G>T (p.Thr235=) c.264G>T (p.Thr88=) | |
4 | g.102268014C= | CA1481301258 | SLC39A8 | c.931G= (p.Asp311=) c.906G= (p.Thr302=) c.*1052G= (n.*1052G=) c.*1027G= (n.*1027G=) n.839G= c.310G= (p.Asp104=) c.*581G= (n.*581G=) c.*120G= (n.*120G=) c.705G= (p.Thr235=) c.264G= (p.Thr88=) | |
4 | g.102268014C>G | CA440807984 | SLC39A8 | c.931G>C (p.Asp311His) c.906G>C (p.Thr302=) c.*1052G>C (n.*1052G>C) c.*1027G>C (n.*1027G>C) n.839G>C c.310G>C (p.Asp104His) c.*581G>C (n.*581G>C) c.*120G>C (n.*120G>C) c.705G>C (p.Thr235=) c.264G>C (p.Thr88=) | |
4 | g.102268014C>T | CA440807985 | SLC39A8 | c.931G>A (p.Asp311Asn) c.906G>A (p.Thr302=) c.*1052G>A (n.*1052G>A) c.*1027G>A (n.*1027G>A) n.839G>A c.310G>A (p.Asp104Asn) c.*581G>A (n.*581G>A) c.*120G>A (n.*120G>A) c.705G>A (p.Thr235=) c.264G>A (p.Thr88=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102268015G>A | CA102674198 | SLC39A8 | c.930C>T (p.Asp310=) c.905C>T (p.Thr302Met) c.*1051C>T (n.*1051C>T) c.*1026C>T (n.*1026C>T) n.838C>T c.309C>T (p.Asp103=) c.*580C>T (n.*580C>T) c.*119C>T (n.*119C>T) c.704C>T (p.Thr235Met) c.263C>T (p.Thr88Met) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
4 | g.102268015G>C | CA357750104 | SLC39A8 | c.930C>G (p.Asp310Glu) c.905C>G (p.Thr302Arg) c.*1051C>G (n.*1051C>G) c.*1026C>G (n.*1026C>G) n.838C>G c.309C>G (p.Asp103Glu) c.*580C>G (n.*580C>G) c.*119C>G (n.*119C>G) c.704C>G (p.Thr235Arg) c.263C>G (p.Thr88Arg) | |
4 | g.102268015G= | CA1481301259 | SLC39A8 | c.930C= (p.Asp310=) c.905C= (p.Thr302=) c.*1051C= (n.*1051C=) c.*1026C= (n.*1026C=) n.838C= c.309C= (p.Asp103=) c.*580C= (n.*580C=) c.*119C= (n.*119C=) c.704C= (p.Thr235=) c.263C= (p.Thr88=) | |
4 | g.102268015G>T | CA357750105 | SLC39A8 | c.930C>A (p.Asp310Glu) c.905C>A (p.Thr302Lys) c.*1051C>A (n.*1051C>A) c.*1026C>A (n.*1026C>A) n.838C>A c.309C>A (p.Asp103Glu) c.*580C>A (n.*580C>A) c.*119C>A (n.*119C>A) c.704C>A (p.Thr235Lys) c.263C>A (p.Thr88Lys) | |
4 | g.102268016T>A | CA357750106 | SLC39A8 | c.929A>T (p.Asp310Val) c.904A>T (p.Thr302Ser) c.*1050A>T (n.*1050A>T) c.*1025A>T (n.*1025A>T) n.837A>T c.308A>T (p.Asp103Val) c.*579A>T (n.*579A>T) c.*118A>T (n.*118A>T) c.703A>T (p.Thr235Ser) c.262A>T (p.Thr88Ser) | |
4 | g.102268016T>C | CA357750107 | SLC39A8 | c.929A>G (p.Asp310Gly) c.904A>G (p.Thr302Ala) c.*1050A>G (n.*1050A>G) c.*1025A>G (n.*1025A>G) n.837A>G c.308A>G (p.Asp103Gly) c.*579A>G (n.*579A>G) c.*118A>G (n.*118A>G) c.703A>G (p.Thr235Ala) c.262A>G (p.Thr88Ala) | gnomAD v4 |
4 | g.102268016T>G | CA357750108 | SLC39A8 | c.929A>C (p.Asp310Ala) c.904A>C (p.Thr302Pro) c.*1050A>C (n.*1050A>C) c.*1025A>C (n.*1025A>C) n.837A>C c.308A>C (p.Asp103Ala) c.*579A>C (n.*579A>C) c.*118A>C (n.*118A>C) c.703A>C (p.Thr235Pro) c.262A>C (p.Thr88Pro) | |
4 | g.102268017C>A | CA440807989 | SLC39A8 | c.928G>T (p.Asp310Tyr) c.903G>T (p.Gly301=) c.*1049G>T (n.*1049G>T) c.*1024G>T (n.*1024G>T) n.836G>T c.307G>T (p.Asp103Tyr) c.*578G>T (n.*578G>T) c.*117G>T (n.*117G>T) c.702G>T (p.Gly234=) c.261G>T (p.Gly87=) | |
4 | g.102268017C>G | CA440807990 | SLC39A8 | c.928G>C (p.Asp310His) c.903G>C (p.Gly301=) c.*1049G>C (n.*1049G>C) c.*1024G>C (n.*1024G>C) n.836G>C c.307G>C (p.Asp103His) c.*578G>C (n.*578G>C) c.*117G>C (n.*117G>C) c.702G>C (p.Gly234=) c.261G>C (p.Gly87=) | |
4 | g.102268017C>T | CA440807991 | SLC39A8 | c.928G>A (p.Asp310Asn) c.903G>A (p.Gly301=) c.*1049G>A (n.*1049G>A) c.*1024G>A (n.*1024G>A) n.836G>A c.307G>A (p.Asp103Asn) c.*578G>A (n.*578G>A) c.*117G>A (n.*117G>A) c.702G>A (p.Gly234=) c.261G>A (p.Gly87=) | |
4 | g.102268018C>A | CA357750109 | SLC39A8 | c.927G>T (p.Arg309Ser) c.902G>T (p.Gly301Val) c.*1048G>T (n.*1048G>T) c.*1023G>T (n.*1023G>T) n.835G>T c.306G>T (p.Arg102Ser) c.*577G>T (n.*577G>T) c.*116G>T (n.*116G>T) c.701G>T (p.Gly234Val) c.260G>T (p.Gly87Val) | |
4 | g.102268018C= | CA1481301260 | SLC39A8 | c.927G= (p.Arg309=) c.902G= (p.Gly301=) c.*1048G= (n.*1048G=) c.*1023G= (n.*1023G=) n.835G= c.306G= (p.Arg102=) c.*577G= (n.*577G=) c.*116G= (n.*116G=) c.701G= (p.Gly234=) c.260G= (p.Gly87=) | |
4 | g.102268018C>G | CA357750111 | SLC39A8 | c.927G>C (p.Arg309Ser) c.902G>C (p.Gly301Ala) c.*1048G>C (n.*1048G>C) c.*1023G>C (n.*1023G>C) n.835G>C c.306G>C (p.Arg102Ser) c.*577G>C (n.*577G>C) c.*116G>C (n.*116G>C) c.701G>C (p.Gly234Ala) c.260G>C (p.Gly87Ala) | |
4 | g.102268018C>T | CA357750110 | SLC39A8 | c.927G>A (p.Arg309=) c.902G>A (p.Gly301Glu) c.*1048G>A (n.*1048G>A) c.*1023G>A (n.*1023G>A) n.835G>A c.306G>A (p.Arg102=) c.*577G>A (n.*577G>A) c.*116G>A (n.*116G>A) c.701G>A (p.Gly234Glu) c.260G>A (p.Gly87Glu) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.102268019C>A | CA357750112 | SLC39A8 | c.926G>T (p.Arg309Met) c.901G>T (p.Gly301Trp) c.*1047G>T (n.*1047G>T) c.*1022G>T (n.*1022G>T) n.834G>T c.305G>T (p.Arg102Met) c.*576G>T (n.*576G>T) c.*115G>T (n.*115G>T) c.700G>T (p.Gly234Trp) c.259G>T (p.Gly87Trp) | |
4 | g.102268019C>G | CA357750113 | SLC39A8 | c.926G>C (p.Arg309Thr) c.901G>C (p.Gly301Arg) c.*1047G>C (n.*1047G>C) c.*1022G>C (n.*1022G>C) n.834G>C c.305G>C (p.Arg102Thr) c.*576G>C (n.*576G>C) c.*115G>C (n.*115G>C) c.700G>C (p.Gly234Arg) c.259G>C (p.Gly87Arg) | gnomAD v4 |
4 | g.102268019C>T | CA357750114 | SLC39A8 | c.926G>A (p.Arg309Lys) c.901G>A (p.Gly301Arg) c.*1047G>A (n.*1047G>A) c.*1022G>A (n.*1022G>A) n.834G>A c.305G>A (p.Arg102Lys) c.*576G>A (n.*576G>A) c.*115G>A (n.*115G>A) c.700G>A (p.Gly234Arg) c.259G>A (p.Gly87Arg) | |
4 | g.102268020T>A | CA440807996 | SLC39A8 | c.925A>T (p.Arg309Trp) c.900A>T (p.Ile300=) c.*1046A>T (n.*1046A>T) c.*1021A>T (n.*1021A>T) n.833A>T c.304A>T (p.Arg102Trp) c.*575A>T (n.*575A>T) c.*114A>T (n.*114A>T) c.699A>T (p.Ile233=) c.258A>T (p.Ile86=) | |
4 | g.102268020T>C | CA357750115 | SLC39A8 | c.925A>G (p.Arg309Gly) c.900A>G (p.Ile300Met) c.*1046A>G (n.*1046A>G) c.*1021A>G (n.*1021A>G) n.833A>G c.304A>G (p.Arg102Gly) c.*575A>G (n.*575A>G) c.*114A>G (n.*114A>G) c.699A>G (p.Ile233Met) c.258A>G (p.Ile86Met) | |
4 | g.102268020T>G | CA440807997 | SLC39A8 | c.925A>C (p.Arg309=) c.900A>C (p.Ile300=) c.*1046A>C (n.*1046A>C) c.*1021A>C (n.*1021A>C) n.833A>C c.304A>C (p.Arg102=) c.*575A>C (n.*575A>C) c.*114A>C (n.*114A>C) c.699A>C (p.Ile233=) c.258A>C (p.Ile86=) | |
4 | g.102268021A>C | CA357750116 | SLC39A8 | c.924T>G (p.Asn308Lys) c.899T>G (p.Ile300Arg) c.*1045T>G (n.*1045T>G) c.*1020T>G (n.*1020T>G) n.832T>G c.303T>G (p.Asn101Lys) c.*574T>G (n.*574T>G) c.*113T>G (n.*113T>G) c.698T>G (p.Ile233Arg) c.257T>G (p.Ile86Arg) | |
4 | g.102268021A>G | CA357750117 | SLC39A8 | c.924T>C (p.Asn308=) c.899T>C (p.Ile300Thr) c.*1045T>C (n.*1045T>C) c.*1020T>C (n.*1020T>C) n.832T>C c.303T>C (p.Asn101=) c.*574T>C (n.*574T>C) c.*113T>C (n.*113T>C) c.698T>C (p.Ile233Thr) c.257T>C (p.Ile86Thr) | |
4 | g.102268021A>T | CA357750118 | SLC39A8 | c.924T>A (p.Asn308Lys) c.899T>A (p.Ile300Lys) c.*1045T>A (n.*1045T>A) c.*1020T>A (n.*1020T>A) n.832T>A c.303T>A (p.Asn101Lys) c.*574T>A (n.*574T>A) c.*113T>A (n.*113T>A) c.698T>A (p.Ile233Lys) c.257T>A (p.Ile86Lys) | |
4 | g.102268022T>A | CA357750119 | SLC39A8 | c.923A>T (p.Asn308Ile) c.898A>T (p.Ile300Leu) c.*1044A>T (n.*1044A>T) c.*1019A>T (n.*1019A>T) n.831A>T c.302A>T (p.Asn101Ile) c.*573A>T (n.*573A>T) c.*112A>T (n.*112A>T) c.697A>T (p.Ile233Leu) c.256A>T (p.Ile86Leu) | |
4 | g.102268022T>C | CA357750120 | SLC39A8 | c.923A>G (p.Asn308Ser) c.898A>G (p.Ile300Val) c.*1044A>G (n.*1044A>G) c.*1019A>G (n.*1019A>G) n.831A>G c.302A>G (p.Asn101Ser) c.*573A>G (n.*573A>G) c.*112A>G (n.*112A>G) c.697A>G (p.Ile233Val) c.256A>G (p.Ile86Val) | |
4 | g.102268022T>G | CA357750121 | SLC39A8 | c.923A>C (p.Asn308Thr) c.898A>C (p.Ile300Leu) c.*1044A>C (n.*1044A>C) c.*1019A>C (n.*1019A>C) n.831A>C c.302A>C (p.Asn101Thr) c.*573A>C (n.*573A>C) c.*112A>C (n.*112A>C) c.697A>C (p.Ile233Leu) c.256A>C (p.Ile86Leu) | |
4 | g.102268023T>A | CA357750122 | SLC39A8 | c.922A>T (p.Asn308Tyr) c.897A>T (p.Glu299Asp) c.*1043A>T (n.*1043A>T) c.*1018A>T (n.*1018A>T) n.830A>T c.301A>T (p.Asn101Tyr) c.*572A>T (n.*572A>T) c.*111A>T (n.*111A>T) c.696A>T (p.Glu232Asp) c.255A>T (p.Glu85Asp) | |
4 | g.102268023T>C | CA440807999 | SLC39A8 | c.922A>G (p.Asn308Asp) c.897A>G (p.Glu299=) c.*1043A>G (n.*1043A>G) c.*1018A>G (n.*1018A>G) n.830A>G c.301A>G (p.Asn101Asp) c.*572A>G (n.*572A>G) c.*111A>G (n.*111A>G) c.696A>G (p.Glu232=) c.255A>G (p.Glu85=) | |
4 | g.102268023T>G | CA357750123 | SLC39A8 | c.922A>C (p.Asn308His) c.897A>C (p.Glu299Asp) c.*1043A>C (n.*1043A>C) c.*1018A>C (n.*1018A>C) n.830A>C c.301A>C (p.Asn101His) c.*572A>C (n.*572A>C) c.*111A>C (n.*111A>C) c.696A>C (p.Glu232Asp) c.255A>C (p.Glu85Asp) | |
4 | g.102268024T>A | CA357750125 | SLC39A8 | c.921A>T (p.Arg307Ser) c.896A>T (p.Glu299Val) c.*1042A>T (n.*1042A>T) c.*1017A>T (n.*1017A>T) n.829A>T c.300A>T (p.Arg100Ser) c.*571A>T (n.*571A>T) c.*110A>T (n.*110A>T) c.695A>T (p.Glu232Val) c.254A>T (p.Glu85Val) | |
4 | g.102268024T>C | CA357750126 | SLC39A8 | c.921A>G (p.Arg307=) c.896A>G (p.Glu299Gly) c.*1042A>G (n.*1042A>G) c.*1017A>G (n.*1017A>G) n.829A>G c.300A>G (p.Arg100=) c.*571A>G (n.*571A>G) c.*110A>G (n.*110A>G) c.695A>G (p.Glu232Gly) c.254A>G (p.Glu85Gly) | |
4 | g.102268024T>G | CA357750124 | SLC39A8 | c.921A>C (p.Arg307Ser) c.896A>C (p.Glu299Ala) c.*1042A>C (n.*1042A>C) c.*1017A>C (n.*1017A>C) n.829A>C c.300A>C (p.Arg100Ser) c.*571A>C (n.*571A>C) c.*110A>C (n.*110A>C) c.695A>C (p.Glu232Ala) c.254A>C (p.Glu85Ala) | dbSNP |
4 | g.102268024T= | CA1481301261 | SLC39A8 | c.921A= (p.Arg307=) c.896A= (p.Glu299=) c.*1042A= (n.*1042A=) c.*1017A= (n.*1017A=) n.829A= c.300A= (p.Arg100=) c.*571A= (n.*571A=) c.*110A= (n.*110A=) c.695A= (p.Glu232=) c.254A= (p.Glu85=) | |
4 | g.102268025C>A | CA357750128 | SLC39A8 | c.920G>T (p.Arg307Ile) c.895G>T (p.Glu299Ter) c.*1041G>T (n.*1041G>T) c.*1016G>T (n.*1016G>T) n.828G>T c.299G>T (p.Arg100Ile) c.*570G>T (n.*570G>T) c.*109G>T (n.*109G>T) c.694G>T (p.Glu232Ter) c.253G>T (p.Glu85Ter) | |
4 | g.102268025C>G | CA357750127 | SLC39A8 | c.920G>C (p.Arg307Thr) c.895G>C (p.Glu299Gln) c.*1041G>C (n.*1041G>C) c.*1016G>C (n.*1016G>C) n.828G>C c.299G>C (p.Arg100Thr) c.*570G>C (n.*570G>C) c.*109G>C (n.*109G>C) c.694G>C (p.Glu232Gln) c.253G>C (p.Glu85Gln) | |
4 | g.102268025C>T | CA357750129 | SLC39A8 | c.920G>A (p.Arg307Lys) c.895G>A (p.Glu299Lys) c.*1041G>A (n.*1041G>A) c.*1016G>A (n.*1016G>A) n.828G>A c.299G>A (p.Arg100Lys) c.*570G>A (n.*570G>A) c.*109G>A (n.*109G>A) c.694G>A (p.Glu232Lys) c.253G>A (p.Glu85Lys) | |
4 | g.102268026T>A | CA440520577 | SLC39A8 | c.919A>T (p.Arg307Ter) c.894A>T (p.Ser298=) c.*1040A>T (n.*1040A>T) c.*1015A>T (n.*1015A>T) n.827A>T c.298A>T (p.Arg100Ter) c.*569A>T (n.*569A>T) c.*108A>T (n.*108A>T) c.693A>T (p.Ser231=) c.252A>T (p.Ser84=) | |
4 | g.102268026T>C | CA440520575 | SLC39A8 | c.919A>G (p.Arg307Gly) c.894A>G (p.Ser298=) c.*1040A>G (n.*1040A>G) c.*1015A>G (n.*1015A>G) n.827A>G c.298A>G (p.Arg100Gly) c.*569A>G (n.*569A>G) c.*108A>G (n.*108A>G) c.693A>G (p.Ser231=) c.252A>G (p.Ser84=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.102268026T>G | CA440520573 | SLC39A8 | c.919A>C (p.Arg307=) c.894A>C (p.Ser298=) c.*1040A>C (n.*1040A>C) c.*1015A>C (n.*1015A>C) n.827A>C c.298A>C (p.Arg100=) c.*569A>C (n.*569A>C) c.*108A>C (n.*108A>C) c.693A>C (p.Ser231=) c.252A>C (p.Ser84=) | |
4 | g.102268026T= | CA1481301262 | SLC39A8 | c.919A= (p.Arg307=) c.894A= (p.Ser298=) c.*1040A= (n.*1040A=) c.*1015A= (n.*1015A=) n.827A= c.298A= (p.Arg100=) c.*569A= (n.*569A=) c.*108A= (n.*108A=) c.693A= (p.Ser231=) c.252A= (p.Ser84=) | |
4 | g.102268027G>A | CA357750130 | SLC39A8 | c.918C>T (p.Val306=) c.893C>T (p.Ser298Leu) c.*1039C>T (n.*1039C>T) c.*1014C>T (n.*1014C>T) n.826C>T c.297C>T (p.Val99=) c.*568C>T (n.*568C>T) c.*107C>T (n.*107C>T) c.692C>T (p.Ser231Leu) c.251C>T (p.Ser84Leu) | |
4 | g.102268027G>C | CA357750132 | SLC39A8 | c.918C>G (p.Val306=) c.893C>G (p.Ser298Ter) c.*1039C>G (n.*1039C>G) c.*1014C>G (n.*1014C>G) n.826C>G c.297C>G (p.Val99=) c.*568C>G (n.*568C>G) c.*107C>G (n.*107C>G) c.692C>G (p.Ser231Ter) c.251C>G (p.Ser84Ter) | |
4 | g.102268027G>T | CA357750131 | SLC39A8 | c.918C>A (p.Val306=) c.893C>A (p.Ser298Ter) c.*1039C>A (n.*1039C>A) c.*1014C>A (n.*1014C>A) n.826C>A c.297C>A (p.Val99=) c.*568C>A (n.*568C>A) c.*107C>A (n.*107C>A) c.692C>A (p.Ser231Ter) c.251C>A (p.Ser84Ter) | |
4 | g.102268028A= | CA1481301263 | SLC39A8 | c.917T= (p.Val306=) c.892T= (p.Ser298=) c.*1038T= (n.*1038T=) c.*1013T= (n.*1013T=) n.825T= c.296T= (p.Val99=) c.*567T= (n.*567T=) c.*106T= (n.*106T=) c.691T= (p.Ser231=) c.250T= (p.Ser84=) | |
4 | g.102268028A>C | CA357750133 | SLC39A8 | c.917T>G (p.Val306Gly) c.892T>G (p.Ser298Ala) c.*1038T>G (n.*1038T>G) c.*1013T>G (n.*1013T>G) n.825T>G c.296T>G (p.Val99Gly) c.*567T>G (n.*567T>G) c.*106T>G (n.*106T>G) c.691T>G (p.Ser231Ala) c.250T>G (p.Ser84Ala) | |
4 | g.102268028A>G | CA3025553 | SLC39A8 | c.917T>C (p.Val306Ala) c.892T>C (p.Ser298Pro) c.*1038T>C (n.*1038T>C) c.*1013T>C (n.*1013T>C) n.825T>C c.296T>C (p.Val99Ala) c.*567T>C (n.*567T>C) c.*106T>C (n.*106T>C) c.691T>C (p.Ser231Pro) c.250T>C (p.Ser84Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.102268028A>T | CA357750134 | SLC39A8 | c.917T>A (p.Val306Asp) c.892T>A (p.Ser298Thr) c.*1038T>A (n.*1038T>A) c.*1013T>A (n.*1013T>A) n.825T>A c.296T>A (p.Val99Asp) c.*567T>A (n.*567T>A) c.*106T>A (n.*106T>A) c.691T>A (p.Ser231Thr) c.250T>A (p.Ser84Thr) | |
4 | g.102268029C>A | CA440520587 | SLC39A8 | c.916G>T (p.Val306Phe) c.891G>T (p.Leu297=) c.*1037G>T (n.*1037G>T) c.*1012G>T (n.*1012G>T) n.824G>T c.295G>T (p.Val99Phe) c.*566G>T (n.*566G>T) c.*105G>T (n.*105G>T) c.690G>T (p.Leu230=) c.249G>T (p.Leu83=) | |
4 | g.102268029C>G | CA440520589 | SLC39A8 | c.916G>C (p.Val306Leu) c.891G>C (p.Leu297=) c.*1037G>C (n.*1037G>C) c.*1012G>C (n.*1012G>C) n.824G>C c.295G>C (p.Val99Leu) c.*566G>C (n.*566G>C) c.*105G>C (n.*105G>C) c.690G>C (p.Leu230=) c.249G>C (p.Leu83=) | |
4 | g.102268029C>T | CA440520592 | SLC39A8 | c.916G>A (p.Val306Ile) c.891G>A (p.Leu297=) c.*1037G>A (n.*1037G>A) c.*1012G>A (n.*1012G>A) n.824G>A c.295G>A (p.Val99Ile) c.*566G>A (n.*566G>A) c.*105G>A (n.*105G>A) c.690G>A (p.Leu230=) c.249G>A (p.Leu83=) | |
4 | g.102268030A>C | CA357750135 | SLC39A8 | c.915T>G (p.Thr305=) c.890T>G (p.Leu297Arg) c.*1036T>G (n.*1036T>G) c.*1011T>G (n.*1011T>G) n.823T>G c.294T>G (p.Thr98=) c.*565T>G (n.*565T>G) c.*104T>G (n.*104T>G) c.689T>G (p.Leu230Arg) c.248T>G (p.Leu83Arg) | |
4 | g.102268030A>G | CA357750136 | SLC39A8 | c.915T>C (p.Thr305=) c.890T>C (p.Leu297Pro) c.*1036T>C (n.*1036T>C) c.*1011T>C (n.*1011T>C) n.823T>C c.294T>C (p.Thr98=) c.*565T>C (n.*565T>C) c.*104T>C (n.*104T>C) c.689T>C (p.Leu230Pro) c.248T>C (p.Leu83Pro) | |
4 | g.102268030A>T | CA357750137 | SLC39A8 | c.915T>A (p.Thr305=) c.890T>A (p.Leu297Gln) c.*1036T>A (n.*1036T>A) c.*1011T>A (n.*1011T>A) n.823T>A c.294T>A (p.Thr98=) c.*565T>A (n.*565T>A) c.*104T>A (n.*104T>A) c.689T>A (p.Leu230Gln) c.248T>A (p.Leu83Gln) | |
4 | g.102268031G>A | CA440520602 | SLC39A8 | c.914C>T (p.Thr305Ile) c.889C>T (p.Leu297=) c.*1035C>T (n.*1035C>T) c.*1010C>T (n.*1010C>T) n.822C>T c.293C>T (p.Thr98Ile) c.*564C>T (n.*564C>T) c.*103C>T (n.*103C>T) c.688C>T (p.Leu230=) c.247C>T (p.Leu83=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.102268031G>C | CA357750138 | SLC39A8 | c.914C>G (p.Thr305Ser) c.889C>G (p.Leu297Val) c.*1035C>G (n.*1035C>G) c.*1010C>G (n.*1010C>G) n.822C>G c.293C>G (p.Thr98Ser) c.*564C>G (n.*564C>G) c.*103C>G (n.*103C>G) c.688C>G (p.Leu230Val) c.247C>G (p.Leu83Val) | gnomAD v4 |
4 | g.102268031G= | CA1481301264 | SLC39A8 | c.914C= (p.Thr305=) c.889C= (p.Leu297=) c.*1035C= (n.*1035C=) c.*1010C= (n.*1010C=) n.822C= c.293C= (p.Thr98=) c.*564C= (n.*564C=) c.*103C= (n.*103C=) c.688C= (p.Leu230=) c.247C= (p.Leu83=) | |
4 | g.102268031G>T | CA357750139 | SLC39A8 | c.914C>A (p.Thr305Asn) c.889C>A (p.Leu297Met) c.*1035C>A (n.*1035C>A) c.*1010C>A (n.*1010C>A) n.822C>A c.293C>A (p.Thr98Asn) c.*564C>A (n.*564C>A) c.*103C>A (n.*103C>A) c.688C>A (p.Leu230Met) c.247C>A (p.Leu83Met) | |
4 | g.102268032T>A | CA357750140 | SLC39A8 | c.913A>T (p.Thr305Ser) c.888A>T (p.Lys296Asn) c.*1034A>T (n.*1034A>T) c.*1009A>T (n.*1009A>T) n.821A>T c.292A>T (p.Thr98Ser) c.*563A>T (n.*563A>T) c.*102A>T (n.*102A>T) c.687A>T (p.Lys229Asn) c.246A>T (p.Lys82Asn) | COSMIC |
4 | g.102268032T>C | CA440520604 | SLC39A8 | c.913A>G (p.Thr305Ala) c.888A>G (p.Lys296=) c.*1034A>G (n.*1034A>G) c.*1009A>G (n.*1009A>G) n.821A>G c.292A>G (p.Thr98Ala) c.*563A>G (n.*563A>G) c.*102A>G (n.*102A>G) c.687A>G (p.Lys229=) c.246A>G (p.Lys82=) | gnomAD v4 |
4 | g.102268032T>G | CA357750141 | SLC39A8 | c.913A>C (p.Thr305Pro) c.888A>C (p.Lys296Asn) c.*1034A>C (n.*1034A>C) c.*1009A>C (n.*1009A>C) n.821A>C c.292A>C (p.Thr98Pro) c.*563A>C (n.*563A>C) c.*102A>C (n.*102A>C) c.687A>C (p.Lys229Asn) c.246A>C (p.Lys82Asn) | |
4 | g.102268033T>A | CA357750144 | SLC39A8 | c.912A>T (p.Gln304His) c.887A>T (p.Lys296Ile) c.*1033A>T (n.*1033A>T) c.*1008A>T (n.*1008A>T) n.820A>T c.291A>T (p.Gln97His) c.*562A>T (n.*562A>T) c.*101A>T (n.*101A>T) c.686A>T (p.Lys229Ile) c.245A>T (p.Lys82Ile) | |
4 | g.102268033T>C | CA357750143 | SLC39A8 | c.912A>G (p.Gln304=) c.887A>G (p.Lys296Arg) c.*1033A>G (n.*1033A>G) c.*1008A>G (n.*1008A>G) n.820A>G c.291A>G (p.Gln97=) c.*562A>G (n.*562A>G) c.*101A>G (n.*101A>G) c.686A>G (p.Lys229Arg) c.245A>G (p.Lys82Arg) | |
4 | g.102268033T>G | CA357750142 | SLC39A8 | c.912A>C (p.Gln304His) c.887A>C (p.Lys296Thr) c.*1033A>C (n.*1033A>C) c.*1008A>C (n.*1008A>C) n.820A>C c.291A>C (p.Gln97His) c.*562A>C (n.*562A>C) c.*101A>C (n.*101A>C) c.686A>C (p.Lys229Thr) c.245A>C (p.Lys82Thr) | |
4 | g.102268034T>A | CA357750145 | SLC39A8 | c.911A>T (p.Gln304Leu) c.886A>T (p.Lys296Ter) c.*1032A>T (n.*1032A>T) c.*1007A>T (n.*1007A>T) n.819A>T c.290A>T (p.Gln97Leu) c.*561A>T (n.*561A>T) c.*100A>T (n.*100A>T) c.685A>T (p.Lys229Ter) c.244A>T (p.Lys82Ter) | |
4 | g.102268034T>C | CA102674204 | SLC39A8 | c.911A>G (p.Gln304Arg) c.886A>G (p.Lys296Glu) c.*1032A>G (n.*1032A>G) c.*1007A>G (n.*1007A>G) n.819A>G c.290A>G (p.Gln97Arg) c.*561A>G (n.*561A>G) c.*100A>G (n.*100A>G) c.685A>G (p.Lys229Glu) c.244A>G (p.Lys82Glu) | dbSNP gnomAD v4 |
4 | g.102268034T>G | CA357750146 | SLC39A8 | c.911A>C (p.Gln304Pro) c.886A>C (p.Lys296Gln) c.*1032A>C (n.*1032A>C) c.*1007A>C (n.*1007A>C) n.819A>C c.290A>C (p.Gln97Pro) c.*561A>C (n.*561A>C) c.*100A>C (n.*100A>C) c.685A>C (p.Lys229Gln) c.244A>C (p.Lys82Gln) | |
4 | g.102268034T= | CA1481301265 | SLC39A8 | c.911A= (p.Gln304=) c.886A= (p.Lys296=) c.*1032A= (n.*1032A=) c.*1007A= (n.*1007A=) n.819A= c.290A= (p.Gln97=) c.*561A= (n.*561A=) c.*100A= (n.*100A=) c.685A= (p.Lys229=) c.244A= (p.Lys82=) | |
4 | g.102268035G>A | CA440520611 | SLC39A8 | c.910C>T (p.Gln304Ter) c.885C>T (p.Pro295=) c.*1031C>T (n.*1031C>T) c.*1006C>T (n.*1006C>T) n.818C>T c.289C>T (p.Gln97Ter) c.*560C>T (n.*560C>T) c.*99C>T (n.*99C>T) c.684C>T (p.Pro228=) c.243C>T (p.Pro81=) | |
4 | g.102268035G>C | CA440520612 | SLC39A8 | c.910C>G (p.Gln304Glu) c.885C>G (p.Pro295=) c.*1031C>G (n.*1031C>G) c.*1006C>G (n.*1006C>G) n.818C>G c.289C>G (p.Gln97Glu) c.*560C>G (n.*560C>G) c.*99C>G (n.*99C>G) c.684C>G (p.Pro228=) c.243C>G (p.Pro81=) | |
4 | g.102268035G>T | CA440520615 | SLC39A8 | c.910C>A (p.Gln304Lys) c.885C>A (p.Pro295=) c.*1031C>A (n.*1031C>A) c.*1006C>A (n.*1006C>A) n.818C>A c.289C>A (p.Gln97Lys) c.*560C>A (n.*560C>A) c.*99C>A (n.*99C>A) c.684C>A (p.Pro228=) c.243C>A (p.Pro81=) | |
4 | g.102268036G>A | CA357750147 | SLC39A8 | c.909C>T (p.Ala303=) c.884C>T (p.Pro295Leu) c.*1030C>T (n.*1030C>T) c.*1005C>T (n.*1005C>T) n.817C>T c.288C>T (p.Ala96=) c.*559C>T (n.*559C>T) c.*98C>T (n.*98C>T) c.683C>T (p.Pro228Leu) c.242C>T (p.Pro81Leu) | gnomAD v4 |
4 | g.102268036G>C | CA357750148 | SLC39A8 | c.909C>G (p.Ala303=) c.884C>G (p.Pro295Arg) c.*1030C>G (n.*1030C>G) c.*1005C>G (n.*1005C>G) n.817C>G c.288C>G (p.Ala96=) c.*559C>G (n.*559C>G) c.*98C>G (n.*98C>G) c.683C>G (p.Pro228Arg) c.242C>G (p.Pro81Arg) | |
4 | g.102268036G>T | CA357750149 | SLC39A8 | c.909C>A (p.Ala303=) c.884C>A (p.Pro295His) c.*1030C>A (n.*1030C>A) c.*1005C>A (n.*1005C>A) n.817C>A c.288C>A (p.Ala96=) c.*559C>A (n.*559C>A) c.*98C>A (n.*98C>A) c.683C>A (p.Pro228His) c.242C>A (p.Pro81His) | |
4 | g.102268037G>A | CA357750150 | SLC39A8 | c.908C>T (p.Ala303Val) c.883C>T (p.Pro295Ser) c.*1029C>T (n.*1029C>T) c.*1004C>T (n.*1004C>T) n.816C>T c.287C>T (p.Ala96Val) c.*558C>T (n.*558C>T) c.*97C>T (n.*97C>T) c.682C>T (p.Pro228Ser) c.241C>T (p.Pro81Ser) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.102268037G>C | CA357750151 | SLC39A8 | c.908C>G (p.Ala303Gly) c.883C>G (p.Pro295Ala) c.*1029C>G (n.*1029C>G) c.*1004C>G (n.*1004C>G) n.816C>G c.287C>G (p.Ala96Gly) c.*558C>G (n.*558C>G) c.*97C>G (n.*97C>G) c.682C>G (p.Pro228Ala) c.241C>G (p.Pro81Ala) | |
4 | g.102268037G= | CA1481301266 | SLC39A8 | c.908C= (p.Ala303=) c.883C= (p.Pro295=) c.*1029C= (n.*1029C=) c.*1004C= (n.*1004C=) n.816C= c.287C= (p.Ala96=) c.*558C= (n.*558C=) c.*97C= (n.*97C=) c.682C= (p.Pro228=) c.241C= (p.Pro81=) | |
4 | g.102268037G>T | CA357750152 | SLC39A8 | c.908C>A (p.Ala303Asp) c.883C>A (p.Pro295Thr) c.*1029C>A (n.*1029C>A) c.*1004C>A (n.*1004C>A) n.816C>A c.287C>A (p.Ala96Asp) c.*558C>A (n.*558C>A) c.*97C>A (n.*97C>A) c.682C>A (p.Pro228Thr) c.241C>A (p.Pro81Thr) | |
4 | g.102268038C>A | CA440520623 | SLC39A8 | c.907G>T (p.Ala303Ser) c.882G>T (p.Gly294=) c.*1028G>T (n.*1028G>T) c.*1003G>T (n.*1003G>T) n.815G>T c.286G>T (p.Ala96Ser) c.*557G>T (n.*557G>T) c.*96G>T (n.*96G>T) c.681G>T (p.Gly227=) c.240G>T (p.Gly80=) | |
4 | g.102268038C>G | CA440520625 | SLC39A8 | c.907G>C (p.Ala303Pro) c.882G>C (p.Gly294=) c.*1028G>C (n.*1028G>C) c.*1003G>C (n.*1003G>C) n.815G>C c.286G>C (p.Ala96Pro) c.*557G>C (n.*557G>C) c.*96G>C (n.*96G>C) c.681G>C (p.Gly227=) c.240G>C (p.Gly80=) | |
4 | g.102268038C>T | CA440520627 | SLC39A8 | c.907G>A (p.Ala303Thr) c.882G>A (p.Gly294=) c.*1028G>A (n.*1028G>A) c.*1003G>A (n.*1003G>A) n.815G>A c.286G>A (p.Ala96Thr) c.*557G>A (n.*557G>A) c.*96G>A (n.*96G>A) c.681G>A (p.Gly227=) c.240G>A (p.Gly80=) | gnomAD v4 |
4 | g.102268041del | CA2671572109 | SLC39A8 | c.907del (p.Ala303ProfsTer?) c.882del (p.Lys296AsnfsTer5) c.*1028del (n.*1028del) c.*1003del (n.*1003del) n.815del c.286del (p.Ala96ProfsTer?) c.*557del (n.*557del) c.*96del (n.*96del) c.681del (p.Lys229AsnfsTer5) c.240del (p.Lys82AsnfsTer5) | gnomAD v4 |
4 | g.102268039C>A | CA357750153 | SLC39A8 | c.906G>T (p.Gly302=) c.881G>T (p.Gly294Val) c.*1027G>T (n.*1027G>T) c.*1002G>T (n.*1002G>T) n.814G>T c.285G>T (p.Gly95=) c.*556G>T (n.*556G>T) c.*95G>T (n.*95G>T) c.680G>T (p.Gly227Val) c.239G>T (p.Gly80Val) | |
4 | g.102268039C>G | CA357750154 | SLC39A8 | c.906G>C (p.Gly302=) c.881G>C (p.Gly294Ala) c.*1027G>C (n.*1027G>C) c.*1002G>C (n.*1002G>C) n.814G>C c.285G>C (p.Gly95=) c.*556G>C (n.*556G>C) c.*95G>C (n.*95G>C) c.680G>C (p.Gly227Ala) c.239G>C (p.Gly80Ala) | gnomAD v4 |
4 | g.102268039C>T | CA357750155 | SLC39A8 | c.906G>A (p.Gly302=) c.881G>A (p.Gly294Glu) c.*1027G>A (n.*1027G>A) c.*1002G>A (n.*1002G>A) n.814G>A c.285G>A (p.Gly95=) c.*556G>A (n.*556G>A) c.*95G>A (n.*95G>A) c.680G>A (p.Gly227Glu) c.239G>A (p.Gly80Glu) | |
4 | g.102268040C>A | CA357750157 | SLC39A8 | c.905G>T (p.Gly302Val) c.880G>T (p.Gly294Trp) c.*1026G>T (n.*1026G>T) c.*1001G>T (n.*1001G>T) n.813G>T c.284G>T (p.Gly95Val) c.*555G>T (n.*555G>T) c.*94G>T (n.*94G>T) c.679G>T (p.Gly227Trp) c.238G>T (p.Gly80Trp) | |
4 | g.102268040C= | CA1481301267 | SLC39A8 | c.905G= (p.Gly302=) c.880G= (p.Gly294=) c.*1026G= (n.*1026G=) c.*1001G= (n.*1001G=) n.813G= c.284G= (p.Gly95=) c.*555G= (n.*555G=) c.*94G= (n.*94G=) c.679G= (p.Gly227=) c.238G= (p.Gly80=) | |
4 | g.102268040C>G | CA357750158 | SLC39A8 | c.905G>C (p.Gly302Ala) c.880G>C (p.Gly294Arg) c.*1026G>C (n.*1026G>C) c.*1001G>C (n.*1001G>C) n.813G>C c.284G>C (p.Gly95Ala) c.*555G>C (n.*555G>C) c.*94G>C (n.*94G>C) c.679G>C (p.Gly227Arg) c.238G>C (p.Gly80Arg) | |
4 | g.102268040C>T | CA357750156 | SLC39A8 | c.905G>A (p.Gly302Glu) c.880G>A (p.Gly294Arg) c.*1026G>A (n.*1026G>A) c.*1001G>A (n.*1001G>A) n.813G>A c.284G>A (p.Gly95Glu) c.*555G>A (n.*555G>A) c.*94G>A (n.*94G>A) c.679G>A (p.Gly227Arg) c.238G>A (p.Gly80Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.102268041C>A | CA357750159 | SLC39A8 | c.904G>T (p.Gly302Trp) c.879G>T (p.Lys293Asn) c.*1025G>T (n.*1025G>T) c.*1000G>T (n.*1000G>T) n.812G>T c.283G>T (p.Gly95Trp) c.*554G>T (n.*554G>T) c.*93G>T (n.*93G>T) c.678G>T (p.Lys226Asn) c.237G>T (p.Lys79Asn) | |
4 | g.102268041C>G | CA357750160 | SLC39A8 | c.904G>C (p.Gly302Arg) c.879G>C (p.Lys293Asn) c.*1025G>C (n.*1025G>C) c.*1000G>C (n.*1000G>C) n.812G>C c.283G>C (p.Gly95Arg) c.*554G>C (n.*554G>C) c.*93G>C (n.*93G>C) c.678G>C (p.Lys226Asn) c.237G>C (p.Lys79Asn) | |
4 | g.102268041C>T | CA440520638 | SLC39A8 | c.904G>A (p.Gly302Arg) c.879G>A (p.Lys293=) c.*1025G>A (n.*1025G>A) c.*1000G>A (n.*1000G>A) n.812G>A c.283G>A (p.Gly95Arg) c.*554G>A (n.*554G>A) c.*93G>A (n.*93G>A) c.678G>A (p.Lys226=) c.237G>A (p.Lys79=) | COSMIC |
4 | g.102268042T>A | CA357750161 | SLC39A8 | c.903A>T (p.Glu301Asp) c.878A>T (p.Lys293Met) c.*1024A>T (n.*1024A>T) c.*999A>T (n.*999A>T) n.811A>T c.282A>T (p.Glu94Asp) c.*553A>T (n.*553A>T) c.*92A>T (n.*92A>T) c.677A>T (p.Lys226Met) c.236A>T (p.Lys79Met) | |
4 | g.102268042T>C | CA357750162 | SLC39A8 | c.903A>G (p.Glu301=) c.878A>G (p.Lys293Arg) c.*1024A>G (n.*1024A>G) c.*999A>G (n.*999A>G) n.811A>G c.282A>G (p.Glu94=) c.*553A>G (n.*553A>G) c.*92A>G (n.*92A>G) c.677A>G (p.Lys226Arg) c.236A>G (p.Lys79Arg) | |
4 | g.102268042T>G | CA357750163 | SLC39A8 | c.903A>C (p.Glu301Asp) c.878A>C (p.Lys293Thr) c.*1024A>C (n.*1024A>C) c.*999A>C (n.*999A>C) n.811A>C c.282A>C (p.Glu94Asp) c.*553A>C (n.*553A>C) c.*92A>C (n.*92A>C) c.677A>C (p.Lys226Thr) c.236A>C (p.Lys79Thr) |