Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.144413406_144414398del | CA2580078692 | SLC39A4 | c.1023_1475-7del c.948_1400-7del c.1023_1474+117del c.741_1193-7del c.741_1192+117del | ClinVar |
8 | g.144413980_144414021dup | CA586163377 | SLC39A4 | c.1225_1266dup (p.Leu422_Leu423insGlyLeuTyrAlaPhePheLeuPheGluAsnLeuPheAsnLeu) c.1150_1191dup (p.Leu397_Leu398insGlyLeuTyrAlaPhePheLeuPheGluAsnLeuPheAsnLeu) n.62_103dup c.943_984dup (p.Leu328_Leu329insGlyLeuTyrAlaPhePheLeuPheGluAsnLeuPheAsnLeu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144413993T>A | CA372619694 | SLC39A4 | c.1252A>T (p.Asn418Tyr) c.1177A>T (p.Asn393Tyr) n.89A>T c.970A>T (p.Asn324Tyr) | |
8 | g.144413993T>C | CA372619691 | SLC39A4 | c.1252A>G (p.Asn418Asp) c.1177A>G (p.Asn393Asp) n.89A>G c.970A>G (p.Asn324Asp) | |
8 | g.144413993T>G | CA372619689 | SLC39A4 | c.1252A>C (p.Asn418His) c.1177A>C (p.Asn393His) n.89A>C c.970A>C (p.Asn324His) | |
8 | g.144413994C>A | CA372619697 | SLC39A4 | c.1251G>T (p.Glu417Asp) c.1176G>T (p.Glu392Asp) n.88G>T c.969G>T (p.Glu323Asp) | |
8 | g.144413994C= | CA1826306875 | SLC39A4 | c.1251G= (p.Glu417=) c.1176G= (p.Glu392=) n.88G= c.969G= (p.Glu323=) | |
8 | g.144413994C>G | CA372619699 | SLC39A4 | c.1251G>C (p.Glu417Asp) c.1176G>C (p.Glu392Asp) n.88G>C c.969G>C (p.Glu323Asp) | |
8 | g.144413994C>T | CA4941318 | SLC39A4 | c.1251G>A (p.Glu417=) c.1176G>A (p.Glu392=) n.88G>A c.969G>A (p.Glu323=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144413995T>A | CA372619709 | SLC39A4 | c.1250A>T (p.Glu417Val) c.1175A>T (p.Glu392Val) n.87A>T c.968A>T (p.Glu323Val) | |
8 | g.144413995T>C | CA372619711 | SLC39A4 | c.1250A>G (p.Glu417Gly) c.1175A>G (p.Glu392Gly) n.87A>G c.968A>G (p.Glu323Gly) | |
8 | g.144413995T>G | CA372619712 | SLC39A4 | c.1250A>C (p.Glu417Ala) c.1175A>C (p.Glu392Ala) n.87A>C c.968A>C (p.Glu323Ala) | |
8 | g.144413996C>A | CA372619716 | SLC39A4 | c.1249G>T (p.Glu417Ter) c.1174G>T (p.Glu392Ter) n.86G>T c.967G>T (p.Glu323Ter) | gnomAD v4 |
8 | g.144413996C>G | CA372619718 | SLC39A4 | c.1249G>C (p.Glu417Gln) c.1174G>C (p.Glu392Gln) n.86G>C c.967G>C (p.Glu323Gln) | |
8 | g.144413996C>T | CA372619721 | SLC39A4 | c.1249G>A (p.Glu417Lys) c.1174G>A (p.Glu392Lys) n.86G>A c.967G>A (p.Glu323Lys) | gnomAD v4 |
8 | g.144413996_144413997insT | CA2580078703 | SLC39A4 | c.1248_1249insA (p.Glu417ArgfsTer26) c.1173_1174insA (p.Glu392ArgfsTer26) n.85_86insA c.966_967insA (p.Glu323ArgfsTer26) | ClinVar |
8 | g.144413997A= | CA1826306876 | SLC39A4 | c.1248T= (p.Phe416=) c.1173T= (p.Phe391=) n.85T= c.966T= (p.Phe322=) | |
8 | g.144413997A>C | CA372619725 | SLC39A4 | c.1248T>G (p.Phe416Leu) c.1173T>G (p.Phe391Leu) n.85T>G c.966T>G (p.Phe322Leu) | |
8 | g.144413997A>G | CA463556086 | SLC39A4 | c.1248T>C (p.Phe416=) c.1173T>C (p.Phe391=) n.85T>C c.966T>C (p.Phe322=) | dbSNP |
8 | g.144413997A>T | CA372619727 | SLC39A4 | c.1248T>A (p.Phe416Leu) c.1173T>A (p.Phe391Leu) n.85T>A c.966T>A (p.Phe322Leu) | |
8 | g.144413998A= | CA1826306877 | SLC39A4 | c.1247T= (p.Phe416=) c.1172T= (p.Phe391=) n.84T= c.965T= (p.Phe322=) | |
8 | g.144413998A>C | CA372619730 | SLC39A4 | c.1247T>G (p.Phe416Cys) c.1172T>G (p.Phe391Cys) n.84T>G c.965T>G (p.Phe322Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144413998A>G | CA372619732 | SLC39A4 | c.1247T>C (p.Phe416Ser) c.1172T>C (p.Phe391Ser) n.84T>C c.965T>C (p.Phe322Ser) | gnomAD v4 |
8 | g.144413998A>T | CA372619734 | SLC39A4 | c.1247T>A (p.Phe416Tyr) c.1172T>A (p.Phe391Tyr) n.84T>A c.965T>A (p.Phe322Tyr) | gnomAD v4 |
8 | g.144413999A>C | CA372619740 | SLC39A4 | c.1246T>G (p.Phe416Val) c.1171T>G (p.Phe391Val) n.83T>G c.964T>G (p.Phe322Val) | |
8 | g.144413999A>G | CA372619742 | SLC39A4 | c.1246T>C (p.Phe416Leu) c.1171T>C (p.Phe391Leu) n.83T>C c.964T>C (p.Phe322Leu) | |
8 | g.144413999A>T | CA372619737 | SLC39A4 | c.1246T>A (p.Phe416Ile) c.1171T>A (p.Phe391Ile) n.83T>A c.964T>A (p.Phe322Ile) | |
8 | g.144414000C>A | CA463556091 | SLC39A4 | c.1245G>T (p.Leu415=) c.1170G>T (p.Leu390=) n.82G>T c.963G>T (p.Leu321=) | ClinVar dbSNP |
8 | g.144414000C>G | CA463556089 | SLC39A4 | c.1245G>C (p.Leu415=) c.1170G>C (p.Leu390=) n.82G>C c.963G>C (p.Leu321=) | |
8 | g.144414000C>T | CA463556090 | SLC39A4 | c.1245G>A (p.Leu415=) c.1170G>A (p.Leu390=) n.82G>A c.963G>A (p.Leu321=) | ClinVar gnomAD v4 |
8 | g.144414001A>C | CA372619746 | SLC39A4 | c.1244T>G (p.Leu415Arg) c.1169T>G (p.Leu390Arg) n.81T>G c.962T>G (p.Leu321Arg) | |
8 | g.144414001A>G | CA372619748 | SLC39A4 | c.1244T>C (p.Leu415Pro) c.1169T>C (p.Leu390Pro) n.81T>C c.962T>C (p.Leu321Pro) | gnomAD v4 |
8 | g.144414001A>T | CA372619750 | SLC39A4 | c.1244T>A (p.Leu415Gln) c.1169T>A (p.Leu390Gln) n.81T>A c.962T>A (p.Leu321Gln) | |
8 | g.144414002G>A | CA463556094 | SLC39A4 | c.1243C>T (p.Leu415=) c.1168C>T (p.Leu390=) n.80C>T c.961C>T (p.Leu321=) | |
8 | g.144414002G>C | CA372619752 | SLC39A4 | c.1243C>G (p.Leu415Val) c.1168C>G (p.Leu390Val) n.80C>G c.961C>G (p.Leu321Val) | |
8 | g.144414002G>T | CA372619754 | SLC39A4 | c.1243C>A (p.Leu415Met) c.1168C>A (p.Leu390Met) n.80C>A c.961C>A (p.Leu321Met) | gnomAD v4 |
8 | g.144414002_144414005delinsGGAA | CA1826306878 | SLC39A4 | c.1240_1243delinsTTCC (p.Phe414=) c.1165_1168delinsTTCC (p.Phe389=) n.77_80delinsTTCC c.958_961delinsTTCC (p.Phe320=) | |
8 | g.144414003G>A | CA463556096 | SLC39A4 | c.1242C>T (p.Phe414=) c.1167C>T (p.Phe389=) n.79C>T c.960C>T (p.Phe320=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414003G>C | CA372619757 | SLC39A4 | c.1242C>G (p.Phe414Leu) c.1167C>G (p.Phe389Leu) n.79C>G c.960C>G (p.Phe320Leu) | |
8 | g.144414003G= | CA1826306880 | SLC39A4 | c.1242C= (p.Phe414=) c.1167C= (p.Phe389=) n.79C= c.960C= (p.Phe320=) | |
8 | g.144414003G>T | CA372619760 | SLC39A4 | c.1242C>A (p.Phe414Leu) c.1167C>A (p.Phe389Leu) n.79C>A c.960C>A (p.Phe320Leu) | gnomAD v4 |
8 | g.144414007_144414009del | CA1826306879 | SLC39A4 | c.1240_1242del (p.Phe414del) c.1165_1167del (p.Phe389del) n.77_79del c.958_960del (p.Phe320del) | dbSNP |
8 | g.144414004A>C | CA372619762 | SLC39A4 | c.1241T>G (p.Phe414Cys) c.1166T>G (p.Phe389Cys) n.78T>G c.959T>G (p.Phe320Cys) | |
8 | g.144414004A>G | CA372619763 | SLC39A4 | c.1241T>C (p.Phe414Ser) c.1166T>C (p.Phe389Ser) n.78T>C c.959T>C (p.Phe320Ser) | |
8 | g.144414004A>T | CA372619766 | SLC39A4 | c.1241T>A (p.Phe414Tyr) c.1166T>A (p.Phe389Tyr) n.78T>A c.959T>A (p.Phe320Tyr) | |
8 | g.144414005A= | CA1826306881 | SLC39A4 | c.1240T= (p.Phe414=) c.1165T= (p.Phe389=) n.77T= c.958T= (p.Phe320=) | |
8 | g.144414005A>C | CA372619769 | SLC39A4 | c.1240T>G (p.Phe414Val) c.1165T>G (p.Phe389Val) n.77T>G c.958T>G (p.Phe320Val) | |
8 | g.144414005A>G | CA4941319 | SLC39A4 | c.1240T>C (p.Phe414Leu) c.1165T>C (p.Phe389Leu) n.77T>C c.958T>C (p.Phe320Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414005A>T | CA372619774 | SLC39A4 | c.1240T>A (p.Phe414Ile) c.1165T>A (p.Phe389Ile) n.77T>A c.958T>A (p.Phe320Ile) | |
8 | g.144414005_144414006delinsAG | CA1826306882 | SLC39A4 | c.1239_1240delinsCT (p.Phe413=) c.1164_1165delinsCT (p.Phe388=) n.76_77delinsCT c.957_958delinsCT (p.Phe319=) | |
8 | g.144414006del | CA1826306883 | SLC39A4 | c.1239del (p.Phe414SerfsTer?) c.1164del (p.Phe389SerfsTer?) n.76del c.957del (p.Phe320SerfsTer?) | dbSNP |
8 | g.144414006G>A | CA463556098 | SLC39A4 | c.1239C>T (p.Phe413=) c.1164C>T (p.Phe388=) n.76C>T c.957C>T (p.Phe319=) | ClinVar gnomAD v4 |
8 | g.144414006G>C | CA372619777 | SLC39A4 | c.1239C>G (p.Phe413Leu) c.1164C>G (p.Phe388Leu) n.76C>G c.957C>G (p.Phe319Leu) | |
8 | g.144414006G>T | CA372619780 | SLC39A4 | c.1239C>A (p.Phe413Leu) c.1164C>A (p.Phe388Leu) n.76C>A c.957C>A (p.Phe319Leu) | |
8 | g.144414007A= | CA1826306884 | SLC39A4 | c.1238T= (p.Phe413=) c.1163T= (p.Phe388=) n.75T= c.956T= (p.Phe319=) | |
8 | g.144414007A>C | CA372619783 | SLC39A4 | c.1238T>G (p.Phe413Cys) c.1163T>G (p.Phe388Cys) n.75T>G c.956T>G (p.Phe319Cys) | |
8 | g.144414007A>G | CA372619784 | SLC39A4 | c.1238T>C (p.Phe413Ser) c.1163T>C (p.Phe388Ser) n.75T>C c.956T>C (p.Phe319Ser) | |
8 | g.144414007A>T | CA372619787 | SLC39A4 | c.1238T>A (p.Phe413Tyr) c.1163T>A (p.Phe388Tyr) n.75T>A c.956T>A (p.Phe319Tyr) | |
8 | g.144414007_144414008insT | CA1139660826 | SLC39A4 | c.1237_1238insA (p.Phe413TyrfsTer5) c.1162_1163insA (p.Phe388TyrfsTer5) n.74_75insA c.955_956insA (p.Phe319TyrfsTer5) | ClinVar dbSNP |
8 | g.144414008A= | CA1826306885 | SLC39A4 | c.1237T= (p.Phe413=) c.1162T= (p.Phe388=) n.74T= c.955T= (p.Phe319=) | |
8 | g.144414008A>C | CA372619790 | SLC39A4 | c.1237T>G (p.Phe413Val) c.1162T>G (p.Phe388Val) n.74T>G c.955T>G (p.Phe319Val) | |
8 | g.144414008A>G | CA4941320 | SLC39A4 | c.1237T>C (p.Phe413Leu) c.1162T>C (p.Phe388Leu) n.74T>C c.955T>C (p.Phe319Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414008A>T | CA372619793 | SLC39A4 | c.1237T>A (p.Phe413Ile) c.1162T>A (p.Phe388Ile) n.74T>A c.955T>A (p.Phe319Ile) | gnomAD v4 |
8 | g.144414009G>A | CA463556102 | SLC39A4 | c.1236C>T (p.Ala412=) c.1161C>T (p.Ala387=) n.73C>T c.954C>T (p.Ala318=) | gnomAD v4 |
8 | g.144414009G>C | CA463556103 | SLC39A4 | c.1236C>G (p.Ala412=) c.1161C>G (p.Ala387=) n.73C>G c.954C>G (p.Ala318=) | |
8 | g.144414009G>T | CA463556104 | SLC39A4 | c.1236C>A (p.Ala412=) c.1161C>A (p.Ala387=) n.73C>A c.954C>A (p.Ala318=) | gnomAD v4 |
8 | g.144414010G>A | CA372619796 | SLC39A4 | c.1235C>T (p.Ala412Val) c.1160C>T (p.Ala387Val) n.72C>T c.953C>T (p.Ala318Val) | gnomAD v4 |
8 | g.144414010G>C | CA372619798 | SLC39A4 | c.1235C>G (p.Ala412Gly) c.1160C>G (p.Ala387Gly) n.72C>G c.953C>G (p.Ala318Gly) | |
8 | g.144414010G>T | CA372619800 | SLC39A4 | c.1235C>A (p.Ala412Asp) c.1160C>A (p.Ala387Asp) n.72C>A c.953C>A (p.Ala318Asp) | |
8 | g.144414011C>A | CA372619805 | SLC39A4 | c.1234G>T (p.Ala412Ser) c.1159G>T (p.Ala387Ser) n.71G>T c.952G>T (p.Ala318Ser) | |
8 | g.144414011C= | CA1826306886 | SLC39A4 | c.1234G= (p.Ala412=) c.1159G= (p.Ala387=) n.71G= c.952G= (p.Ala318=) | |
8 | g.144414011C>G | CA372619807 | SLC39A4 | c.1234G>C (p.Ala412Pro) c.1159G>C (p.Ala387Pro) n.71G>C c.952G>C (p.Ala318Pro) | |
8 | g.144414011C>T | CA4941321 | SLC39A4 | c.1234G>A (p.Ala412Thr) c.1159G>A (p.Ala387Thr) n.71G>A c.952G>A (p.Ala318Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414012G>A | CA463556107 | SLC39A4 | c.1233C>T (p.Tyr411=) c.1158C>T (p.Tyr386=) n.70C>T c.951C>T (p.Tyr317=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414012G>C | CA372619811 | SLC39A4 | c.1233C>G (p.Tyr411Ter) c.1158C>G (p.Tyr386Ter) n.70C>G c.951C>G (p.Tyr317Ter) | |
8 | g.144414012G= | CA1826306887 | SLC39A4 | c.1233C= (p.Tyr411=) c.1158C= (p.Tyr386=) n.70C= c.951C= (p.Tyr317=) | |
8 | g.144414012G>T | CA372619813 | SLC39A4 | c.1233C>A (p.Tyr411Ter) c.1158C>A (p.Tyr386Ter) n.70C>A c.951C>A (p.Tyr317Ter) | |
8 | g.144414013T>A | CA372619817 | SLC39A4 | c.1232A>T (p.Tyr411Phe) c.1157A>T (p.Tyr386Phe) n.69A>T c.950A>T (p.Tyr317Phe) | dbSNP |
8 | g.144414013T>C | CA372619821 | SLC39A4 | c.1232A>G (p.Tyr411Cys) c.1157A>G (p.Tyr386Cys) n.69A>G c.950A>G (p.Tyr317Cys) | |
8 | g.144414013T>G | CA372619818 | SLC39A4 | c.1232A>C (p.Tyr411Ser) c.1157A>C (p.Tyr386Ser) n.69A>C c.950A>C (p.Tyr317Ser) | |
8 | g.144414013T= | CA1826306888 | SLC39A4 | c.1232A= (p.Tyr411=) c.1157A= (p.Tyr386=) n.69A= c.950A= (p.Tyr317=) | |
8 | g.144414014A>C | CA372619823 | SLC39A4 | c.1231T>G (p.Tyr411Asp) c.1156T>G (p.Tyr386Asp) n.68T>G c.949T>G (p.Tyr317Asp) | |
8 | g.144414014A>G | CA372619826 | SLC39A4 | c.1231T>C (p.Tyr411His) c.1156T>C (p.Tyr386His) n.68T>C c.949T>C (p.Tyr317His) | gnomAD v4 |
8 | g.144414014A>T | CA372619828 | SLC39A4 | c.1231T>A (p.Tyr411Asn) c.1156T>A (p.Tyr386Asn) n.68T>A c.949T>A (p.Tyr317Asn) | |
8 | g.144414015G>A | CA463556112 | SLC39A4 | c.1230C>T (p.Leu410=) c.1155C>T (p.Leu385=) n.67C>T c.948C>T (p.Leu316=) | |
8 | g.144414015G>C | CA463556113 | SLC39A4 | c.1230C>G (p.Leu410=) c.1155C>G (p.Leu385=) n.67C>G c.948C>G (p.Leu316=) | gnomAD v4 |
8 | g.144414015G>T | CA463556114 | SLC39A4 | c.1230C>A (p.Leu410=) c.1155C>A (p.Leu385=) n.67C>A c.948C>A (p.Leu316=) | gnomAD v4 |
8 | g.144414016A>C | CA372619832 | SLC39A4 | c.1229T>G (p.Leu410Arg) c.1154T>G (p.Leu385Arg) n.66T>G c.947T>G (p.Leu316Arg) | |
8 | g.144414016A>G | CA372619835 | SLC39A4 | c.1229T>C (p.Leu410Pro) c.1154T>C (p.Leu385Pro) n.66T>C c.947T>C (p.Leu316Pro) | |
8 | g.144414016A>T | CA372619838 | SLC39A4 | c.1229T>A (p.Leu410His) c.1154T>A (p.Leu385His) n.66T>A c.947T>A (p.Leu316His) | |
8 | g.144414017G>A | CA372619840 | SLC39A4 | c.1228C>T (p.Leu410Phe) c.1153C>T (p.Leu385Phe) n.65C>T c.946C>T (p.Leu316Phe) | gnomAD v4 |
8 | g.144414017G>C | CA372619843 | SLC39A4 | c.1228C>G (p.Leu410Val) c.1153C>G (p.Leu385Val) n.65C>G c.946C>G (p.Leu316Val) | |
8 | g.144414017G>T | CA372619845 | SLC39A4 | c.1228C>A (p.Leu410Ile) c.1153C>A (p.Leu385Ile) n.65C>A c.946C>A (p.Leu316Ile) | |
8 | g.144414020_144414024del | CA2580078704 | SLC39A4 | c.1224_1228del (p.Gly409LeufsTer7) c.1149_1153del (p.Gly384LeufsTer7) n.61_65del c.942_946del (p.Gly315LeufsTer7) | ClinVar dbSNP |
8 | g.144414018C>A | CA463556117 | SLC39A4 | c.1227G>T (p.Gly409=) c.1152G>T (p.Gly384=) n.64G>T c.945G>T (p.Gly315=) | ClinVar dbSNP gnomAD v4 |
8 | g.144414018C= | CA1826306889 | SLC39A4 | c.1227G= (p.Gly409=) c.1152G= (p.Gly384=) n.64G= c.945G= (p.Gly315=) | |
8 | g.144414018C>G | CA463556116 | SLC39A4 | c.1227G>C (p.Gly409=) c.1152G>C (p.Gly384=) n.64G>C c.945G>C (p.Gly315=) | dbSNP gnomAD v2 |
8 | g.144414018C>T | CA463556118 | SLC39A4 | c.1227G>A (p.Gly409=) c.1152G>A (p.Gly384=) n.64G>A c.945G>A (p.Gly315=) | gnomAD v4 |
8 | g.144414019C>A | CA372619849 | SLC39A4 | c.1226G>T (p.Gly409Val) c.1151G>T (p.Gly384Val) n.63G>T c.944G>T (p.Gly315Val) | gnomAD v4 |
8 | g.144414019C= | CA1826306890 | SLC39A4 | c.1226G= (p.Gly409=) c.1151G= (p.Gly384=) n.63G= c.944G= (p.Gly315=) | |
8 | g.144414019C>G | CA372619851 | SLC39A4 | c.1226G>C (p.Gly409Ala) c.1151G>C (p.Gly384Ala) n.63G>C c.944G>C (p.Gly315Ala) | gnomAD v4 |
8 | g.144414019C>T | CA372619853 | SLC39A4 | c.1226G>A (p.Gly409Glu) c.1151G>A (p.Gly384Glu) n.63G>A c.944G>A (p.Gly315Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414020C>A | CA372619861 | SLC39A4 | c.1225G>T (p.Gly409Trp) c.1150G>T (p.Gly384Trp) n.62G>T c.943G>T (p.Gly315Trp) | gnomAD v4 |
8 | g.144414020C= | CA1826306892 | SLC39A4 | c.1225G= (p.Gly409=) c.1150G= (p.Gly384=) n.62G= c.943G= (p.Gly315=) | |
8 | g.144414020C>G | CA372619857 | SLC39A4 | c.1225G>C (p.Gly409Arg) c.1150G>C (p.Gly384Arg) n.62G>C c.943G>C (p.Gly315Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414020C>T | CA372619859 | SLC39A4 | c.1225G>A (p.Gly409Arg) c.1150G>A (p.Gly384Arg) n.62G>A c.943G>A (p.Gly315Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414020_144414021delinsCG | CA1826306891 | SLC39A4 | c.1224_1225delinsCG (p.Ala408=) c.1149_1150delinsCG (p.Ala383=) n.61_62delinsCG c.942_943delinsCG (p.Ala314=) | |
8 | g.144414021G>A | CA4941323 | SLC39A4 | c.1224C>T (p.Ala408=) c.1149C>T (p.Ala383=) n.61C>T c.942C>T (p.Ala314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414021G>C | CA463556120 | SLC39A4 | c.1224C>G (p.Ala408=) c.1149C>G (p.Ala383=) n.61C>G c.942C>G (p.Ala314=) | ClinVar |
8 | g.144414021G= | CA1826306893 | SLC39A4 | c.1224C= (p.Ala408=) c.1149C= (p.Ala383=) n.61C= c.942C= (p.Ala314=) | |
8 | g.144414021G>T | CA463556122 | SLC39A4 | c.1224C>A (p.Ala408=) c.1149C>A (p.Ala383=) n.61C>A c.942C>A (p.Ala314=) | ClinVar |
8 | g.144414022del | CA4941322 | SLC39A4 | c.1224del (p.Leu410SerfsTer?) c.1149del (p.Leu385SerfsTer?) n.61del c.942del (p.Leu316SerfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414022G>A | CA4941324 | SLC39A4 | c.1223C>T (p.Ala408Val) c.1148C>T (p.Ala383Val) n.60C>T c.941C>T (p.Ala314Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414022G>C | CA372619874 | SLC39A4 | c.1223C>G (p.Ala408Gly) c.1148C>G (p.Ala383Gly) n.60C>G c.941C>G (p.Ala314Gly) | |
8 | g.144414022G= | CA1826306894 | SLC39A4 | c.1223C= (p.Ala408=) c.1148C= (p.Ala383=) n.60C= c.941C= (p.Ala314=) | |
8 | g.144414022G>T | CA372619876 | SLC39A4 | c.1223C>A (p.Ala408Asp) c.1148C>A (p.Ala383Asp) n.60C>A c.941C>A (p.Ala314Asp) | |
8 | g.144414023C>A | CA372619880 | SLC39A4 | c.1222G>T (p.Ala408Ser) c.1147G>T (p.Ala383Ser) n.59G>T c.940G>T (p.Ala314Ser) | gnomAD v4 |
8 | g.144414023C= | CA1826306895 | SLC39A4 | c.1222G= (p.Ala408=) c.1147G= (p.Ala383=) n.59G= c.940G= (p.Ala314=) | |
8 | g.144414023C>G | CA187646749 | SLC39A4 | c.1222G>C (p.Ala408Pro) c.1147G>C (p.Ala383Pro) n.59G>C c.940G>C (p.Ala314Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414023C>T | CA372619883 | SLC39A4 | c.1222G>A (p.Ala408Thr) c.1147G>A (p.Ala383Thr) n.59G>A c.940G>A (p.Ala314Thr) | ClinVar dbSNP gnomAD v4 |
8 | g.144414024C>A | CA463556123 | SLC39A4 | c.1221G>T (p.Leu407=) c.1146G>T (p.Leu382=) n.58G>T c.939G>T (p.Leu313=) | gnomAD v4 |
8 | g.144414024C>G | CA463556124 | SLC39A4 | c.1221G>C (p.Leu407=) c.1146G>C (p.Leu382=) n.58G>C c.939G>C (p.Leu313=) | |
8 | g.144414024C>T | CA463556125 | SLC39A4 | c.1221G>A (p.Leu407=) c.1146G>A (p.Leu382=) n.58G>A c.939G>A (p.Leu313=) | |
8 | g.144414025A= | CA1826306896 | SLC39A4 | c.1220T= (p.Leu407=) c.1145T= (p.Leu382=) n.57T= c.938T= (p.Leu313=) | |
8 | g.144414025A>C | CA372619885 | SLC39A4 | c.1220T>G (p.Leu407Arg) c.1145T>G (p.Leu382Arg) n.57T>G c.938T>G (p.Leu313Arg) | |
8 | g.144414025A>G | CA372619887 | SLC39A4 | c.1220T>C (p.Leu407Pro) c.1145T>C (p.Leu382Pro) n.57T>C c.938T>C (p.Leu313Pro) | dbSNP gnomAD v4 |
8 | g.144414025A>T | CA372619889 | SLC39A4 | c.1220T>A (p.Leu407Gln) c.1145T>A (p.Leu382Gln) n.57T>A c.938T>A (p.Leu313Gln) | |
8 | g.144414026G>A | CA463556126 | SLC39A4 | c.1219C>T (p.Leu407=) c.1144C>T (p.Leu382=) n.56C>T c.937C>T (p.Leu313=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414026G>C | CA372619893 | SLC39A4 | c.1219C>G (p.Leu407Val) c.1144C>G (p.Leu382Val) n.56C>G c.937C>G (p.Leu313Val) | |
8 | g.144414026G= | CA1826306897 | SLC39A4 | c.1219C= (p.Leu407=) c.1144C= (p.Leu382=) n.56C= c.937C= (p.Leu313=) | |
8 | g.144414026G>T | CA372619895 | SLC39A4 | c.1219C>A (p.Leu407Met) c.1144C>A (p.Leu382Met) n.56C>A c.937C>A (p.Leu313Met) | gnomAD v4 |
8 | g.144414027C>A | CA372619898 | SLC39A4 | c.1218G>T (p.Met406Ile) c.1143G>T (p.Met381Ile) n.55G>T c.936G>T (p.Met312Ile) | gnomAD v4 |
8 | g.144414027C= | CA1826306898 | SLC39A4 | c.1218G= (p.Met406=) c.1143G= (p.Met381=) n.55G= c.936G= (p.Met312=) | |
8 | g.144414027C>G | CA372619900 | SLC39A4 | c.1218G>C (p.Met406Ile) c.1143G>C (p.Met381Ile) n.55G>C c.936G>C (p.Met312Ile) | dbSNP gnomAD v4 |
8 | g.144414027C>T | CA4941325 | SLC39A4 | c.1218G>A (p.Met406Ile) c.1143G>A (p.Met381Ile) n.55G>A c.936G>A (p.Met312Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414028A>C | CA372619905 | SLC39A4 | c.1217T>G (p.Met406Arg) c.1142T>G (p.Met381Arg) n.54T>G c.935T>G (p.Met312Arg) | |
8 | g.144414028A>G | CA372619907 | SLC39A4 | c.1217T>C (p.Met406Thr) c.1142T>C (p.Met381Thr) n.54T>C c.935T>C (p.Met312Thr) | gnomAD v4 |
8 | g.144414028A>T | CA372619909 | SLC39A4 | c.1217T>A (p.Met406Lys) c.1142T>A (p.Met381Lys) n.54T>A c.935T>A (p.Met312Lys) | gnomAD v4 |
8 | g.144414028_144414029insAGAAACCCACCGCTGAGATGGCCTTGAGGTCCATCTTGCCTGACATGCCCTGGCCAATTAAGTTAGTCATTTCTTCCAAC | CA2782585157 | SLC39A4 | c.1216_1217insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT (p.Met406SerfsTer5) c.1141_1142insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT (p.Met381SerfsTer5) n.53_54insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT c.934_935insGTTGGAAGAAATGACTAACTTAATTGGCCAGGGCATGTCAGGCAAGATGGACCTCAAGGCCATCTCAGCGGTGGGTTTCT (p.Met312SerfsTer5) | |
8 | g.144414029T>A | CA372619912 | SLC39A4 | c.1216A>T (p.Met406Leu) c.1141A>T (p.Met381Leu) n.53A>T c.934A>T (p.Met312Leu) | |
8 | g.144414029T>C | CA372619914 | SLC39A4 | c.1216A>G (p.Met406Val) c.1141A>G (p.Met381Val) n.53A>G c.934A>G (p.Met312Val) | |
8 | g.144414029T>G | CA372619916 | SLC39A4 | c.1216A>C (p.Met406Leu) c.1141A>C (p.Met381Leu) n.53A>C c.934A>C (p.Met312Leu) | |
8 | g.144414030A= | CA1826306899 | SLC39A4 | c.1215T= (p.Ala405=) c.1140T= (p.Ala380=) n.52T= c.933T= (p.Ala311=) | |
8 | g.144414030A>C | CA463556131 | SLC39A4 | c.1215T>G (p.Ala405=) c.1140T>G (p.Ala380=) n.52T>G c.933T>G (p.Ala311=) | |
8 | g.144414030A>G | CA4941326 | SLC39A4 | c.1215T>C (p.Ala405=) c.1140T>C (p.Ala380=) n.52T>C c.933T>C (p.Ala311=) | dbSNP ExAC gnomAD v2 |
8 | g.144414030A>T | CA463556130 | SLC39A4 | c.1215T>A (p.Ala405=) c.1140T>A (p.Ala380=) n.52T>A c.933T>A (p.Ala311=) | |
8 | g.144414031G>A | CA372619923 | SLC39A4 | c.1214C>T (p.Ala405Val) c.1139C>T (p.Ala380Val) n.51C>T c.932C>T (p.Ala311Val) | gnomAD v4 |
8 | g.144414031G>C | CA372619925 | SLC39A4 | c.1214C>G (p.Ala405Gly) c.1139C>G (p.Ala380Gly) n.51C>G c.932C>G (p.Ala311Gly) | gnomAD v4 |
8 | g.144414031G>T | CA372619926 | SLC39A4 | c.1214C>A (p.Ala405Asp) c.1139C>A (p.Ala380Asp) n.51C>A c.932C>A (p.Ala311Asp) | gnomAD v4 |
8 | g.144414032C>A | CA372619933 | SLC39A4 | c.1213G>T (p.Ala405Ser) c.1138G>T (p.Ala380Ser) n.50G>T c.931G>T (p.Ala311Ser) | gnomAD v4 |
8 | g.144414032C= | CA1826306900 | SLC39A4 | c.1213G= (p.Ala405=) c.1138G= (p.Ala380=) n.50G= c.931G= (p.Ala311=) | |
8 | g.144414032C>G | CA187646766 | SLC39A4 | c.1213G>C (p.Ala405Pro) c.1138G>C (p.Ala380Pro) n.50G>C c.931G>C (p.Ala311Pro) | dbSNP |
8 | g.144414032C>T | CA372619931 | SLC39A4 | c.1213G>A (p.Ala405Thr) c.1138G>A (p.Ala380Thr) n.50G>A c.931G>A (p.Ala311Thr) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414033C>A | CA463556133 | SLC39A4 | c.1212G>T (p.Leu404=) c.1137G>T (p.Leu379=) n.49G>T c.930G>T (p.Leu310=) | gnomAD v4 |
8 | g.144414033C= | CA1826306901 | SLC39A4 | c.1212G= (p.Leu404=) c.1137G= (p.Leu379=) n.49G= c.930G= (p.Leu310=) | |
8 | g.144414033C>G | CA463556134 | SLC39A4 | c.1212G>C (p.Leu404=) c.1137G>C (p.Leu379=) n.49G>C c.930G>C (p.Leu310=) | |
8 | g.144414033C>T | CA187646769 | SLC39A4 | c.1212G>A (p.Leu404=) c.1137G>A (p.Leu379=) n.49G>A c.930G>A (p.Leu310=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414034A= | CA1826306902 | SLC39A4 | c.1211T= (p.Leu404=) c.1136T= (p.Leu379=) n.48T= c.929T= (p.Leu310=) | |
8 | g.144414034A>C | CA372619938 | SLC39A4 | c.1211T>G (p.Leu404Arg) c.1136T>G (p.Leu379Arg) n.48T>G c.929T>G (p.Leu310Arg) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414034A>G | CA372619940 | SLC39A4 | c.1211T>C (p.Leu404Pro) c.1136T>C (p.Leu379Pro) n.48T>C c.929T>C (p.Leu310Pro) | dbSNP gnomAD v4 |
8 | g.144414034A>T | CA372619941 | SLC39A4 | c.1211T>A (p.Leu404Gln) c.1136T>A (p.Leu379Gln) n.48T>A c.929T>A (p.Leu310Gln) | gnomAD v4 COSMIC COSMIC |
8 | g.144414035G>A | CA463556138 | SLC39A4 | c.1210C>T (p.Leu404=) c.1135C>T (p.Leu379=) n.47C>T c.928C>T (p.Leu310=) | |
8 | g.144414035G>C | CA372619945 | SLC39A4 | c.1210C>G (p.Leu404Val) c.1135C>G (p.Leu379Val) n.47C>G c.928C>G (p.Leu310Val) | |
8 | g.144414035G>T | CA372619947 | SLC39A4 | c.1210C>A (p.Leu404Met) c.1135C>A (p.Leu379Met) n.47C>A c.928C>A (p.Leu310Met) | gnomAD v4 |
8 | g.144414036G>A | CA463556141 | SLC39A4 | c.1209C>T (p.Leu403=) c.1134C>T (p.Leu378=) n.46C>T c.927C>T (p.Leu309=) | gnomAD v4 |
8 | g.144414036G>C | CA463556139 | SLC39A4 | c.1209C>G (p.Leu403=) c.1134C>G (p.Leu378=) n.46C>G c.927C>G (p.Leu309=) | |
8 | g.144414036G>T | CA463556140 | SLC39A4 | c.1209C>A (p.Leu403=) c.1134C>A (p.Leu378=) n.46C>A c.927C>A (p.Leu309=) | |
8 | g.144414037A>C | CA372619950 | SLC39A4 | c.1208T>G (p.Leu403Arg) c.1133T>G (p.Leu378Arg) n.45T>G c.926T>G (p.Leu309Arg) | |
8 | g.144414037A>G | CA372619952 | SLC39A4 | c.1208T>C (p.Leu403Pro) c.1133T>C (p.Leu378Pro) n.45T>C c.926T>C (p.Leu309Pro) | gnomAD v4 |
8 | g.144414037A>T | CA372619954 | SLC39A4 | c.1208T>A (p.Leu403His) c.1133T>A (p.Leu378His) n.45T>A c.926T>A (p.Leu309His) | |
8 | g.144414038G>A | CA372619958 | SLC39A4 | c.1207C>T (p.Leu403Phe) c.1132C>T (p.Leu378Phe) n.44C>T c.925C>T (p.Leu309Phe) | gnomAD v4 |
8 | g.144414038G>C | CA372619960 | SLC39A4 | c.1207C>G (p.Leu403Val) c.1132C>G (p.Leu378Val) n.44C>G c.925C>G (p.Leu309Val) | |
8 | g.144414038G>T | CA372619962 | SLC39A4 | c.1207C>A (p.Leu403Ile) c.1132C>A (p.Leu378Ile) n.44C>A c.925C>A (p.Leu309Ile) | |
8 | g.144414039G>A | CA463556142 | SLC39A4 | c.1206C>T (p.Arg402=) c.1131C>T (p.Arg377=) n.43C>T c.924C>T (p.Arg308=) | |
8 | g.144414039G>C | CA463556143 | SLC39A4 | c.1206C>G (p.Arg402=) c.1131C>G (p.Arg377=) n.43C>G c.924C>G (p.Arg308=) | |
8 | g.144414039G>T | CA463556146 | SLC39A4 | c.1206C>A (p.Arg402=) c.1131C>A (p.Arg377=) n.43C>A c.924C>A (p.Arg308=) | |
8 | g.144414040C>A | CA372619968 | SLC39A4 | c.1205G>T (p.Arg402Leu) c.1130G>T (p.Arg377Leu) n.42G>T c.923G>T (p.Arg308Leu) | gnomAD v4 |
8 | g.144414040C= | CA1826306903 | SLC39A4 | c.1205G= (p.Arg402=) c.1130G= (p.Arg377=) n.42G= c.923G= (p.Arg308=) | |
8 | g.144414040C>G | CA372619966 | SLC39A4 | c.1205G>C (p.Arg402Pro) c.1130G>C (p.Arg377Pro) n.42G>C c.923G>C (p.Arg308Pro) | |
8 | g.144414040C>T | CA4941327 | SLC39A4 | c.1205G>A (p.Arg402His) c.1130G>A (p.Arg377His) n.42G>A c.923G>A (p.Arg308His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414041G>A | CA4941328 | SLC39A4 | c.1204C>T (p.Arg402Cys) c.1129C>T (p.Arg377Cys) n.41C>T c.922C>T (p.Arg308Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414041G>C | CA372619972 | SLC39A4 | c.1204C>G (p.Arg402Gly) c.1129C>G (p.Arg377Gly) n.41C>G c.922C>G (p.Arg308Gly) | |
8 | g.144414041G= | CA1826306904 | SLC39A4 | c.1204C= (p.Arg402=) c.1129C= (p.Arg377=) n.41C= c.922C= (p.Arg308=) | |
8 | g.144414041G>T | CA372619975 | SLC39A4 | c.1204C>A (p.Arg402Ser) c.1129C>A (p.Arg377Ser) n.41C>A c.922C>A (p.Arg308Ser) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414042C>A | CA372619978 | SLC39A4 | c.1203G>T (p.Trp401Cys) c.1128G>T (p.Trp376Cys) n.40G>T c.921G>T (p.Trp307Cys) | gnomAD v4 |
8 | g.144414042C= | CA1826306905 | SLC39A4 | c.1203G= (p.Trp401=) c.1128G= (p.Trp376=) n.40G= c.921G= (p.Trp307=) | |
8 | g.144414042C>G | CA372619981 | SLC39A4 | c.1203G>C (p.Trp401Cys) c.1128G>C (p.Trp376Cys) n.40G>C c.921G>C (p.Trp307Cys) | |
8 | g.144414042C>T | CA187646778 | SLC39A4 | c.1203G>A (p.Trp401Ter) c.1128G>A (p.Trp376Ter) n.40G>A c.921G>A (p.Trp307Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414043C>A | CA372619986 | SLC39A4 | c.1202G>T (p.Trp401Leu) c.1127G>T (p.Trp376Leu) n.39G>T c.920G>T (p.Trp307Leu) | |
8 | g.144414043C>G | CA372619989 | SLC39A4 | c.1202G>C (p.Trp401Ser) c.1127G>C (p.Trp376Ser) n.39G>C c.920G>C (p.Trp307Ser) | |
8 | g.144414043C>T | CA372619991 | SLC39A4 | c.1202G>A (p.Trp401Ter) c.1127G>A (p.Trp376Ter) n.39G>A c.920G>A (p.Trp307Ter) | ClinVar dbSNP |
8 | g.144414044A>C | CA372619993 | SLC39A4 | c.1201T>G (p.Trp401Gly) c.1126T>G (p.Trp376Gly) n.38T>G c.919T>G (p.Trp307Gly) | |
8 | g.144414044A>G | CA372619996 | SLC39A4 | c.1201T>C (p.Trp401Arg) c.1126T>C (p.Trp376Arg) n.38T>C c.919T>C (p.Trp307Arg) | gnomAD v4 |
8 | g.144414044A>T | CA372619998 | SLC39A4 | c.1201T>A (p.Trp401Arg) c.1126T>A (p.Trp376Arg) n.38T>A c.919T>A (p.Trp307Arg) | gnomAD v4 |
8 | g.144414045G>A | CA187646779 | SLC39A4 | c.1200C>T (p.Thr400=) c.1125C>T (p.Thr375=) n.37C>T c.918C>T (p.Thr306=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414045G>C | CA463556151 | SLC39A4 | c.1200C>G (p.Thr400=) c.1125C>G (p.Thr375=) n.37C>G c.918C>G (p.Thr306=) | |
8 | g.144414045G= | CA1826306906 | SLC39A4 | c.1200C= (p.Thr400=) c.1125C= (p.Thr375=) n.37C= c.918C= (p.Thr306=) | |
8 | g.144414045G>T | CA463556152 | SLC39A4 | c.1200C>A (p.Thr400=) c.1125C>A (p.Thr375=) n.37C>A c.918C>A (p.Thr306=) | |
8 | g.144414046G>A | CA372620003 | SLC39A4 | c.1199C>T (p.Thr400Ile) c.1124C>T (p.Thr375Ile) n.36C>T c.917C>T (p.Thr306Ile) | dbSNP gnomAD v4 |
8 | g.144414046G>C | CA372620005 | SLC39A4 | c.1199C>G (p.Thr400Ser) c.1124C>G (p.Thr375Ser) n.36C>G c.917C>G (p.Thr306Ser) | |
8 | g.144414046G= | CA1826306907 | SLC39A4 | c.1199C= (p.Thr400=) c.1124C= (p.Thr375=) n.36C= c.917C= (p.Thr306=) | |
8 | g.144414046G>T | CA372620007 | SLC39A4 | c.1199C>A (p.Thr400Asn) c.1124C>A (p.Thr375Asn) n.36C>A c.917C>A (p.Thr306Asn) | |
8 | g.144414054_144414060dup | CA463556153 | SLC39A4 | c.1193_1199dup (p.Trp401AlafsTer19) c.1118_1124dup (p.Trp376AlafsTer19) n.30_36dup c.911_917dup (p.Trp307AlafsTer19) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414047T>A | CA372620011 | SLC39A4 | c.1198A>T (p.Thr400Ser) c.1123A>T (p.Thr375Ser) n.35A>T c.916A>T (p.Thr306Ser) | |
8 | g.144414047T>C | CA372620014 | SLC39A4 | c.1198A>G (p.Thr400Ala) c.1123A>G (p.Thr375Ala) n.35A>G c.916A>G (p.Thr306Ala) | gnomAD v4 |
8 | g.144414047T>G | CA372620013 | SLC39A4 | c.1198A>C (p.Thr400Pro) c.1123A>C (p.Thr375Pro) n.35A>C c.916A>C (p.Thr306Pro) | |
8 | g.144414048G>A | CA463556160 | SLC39A4 | c.1197C>T (p.Pro399=) c.1122C>T (p.Pro374=) n.34C>T c.915C>T (p.Pro305=) | gnomAD v4 |
8 | g.144414048G>C | CA463556157 | SLC39A4 | c.1197C>G (p.Pro399=) c.1122C>G (p.Pro374=) n.34C>G c.915C>G (p.Pro305=) | |
8 | g.144414048G>T | CA463556155 | SLC39A4 | c.1197C>A (p.Pro399=) c.1122C>A (p.Pro374=) n.34C>A c.915C>A (p.Pro305=) | gnomAD v4 |
8 | g.144414049G>A | CA372620018 | SLC39A4 | c.1196C>T (p.Pro399Leu) c.1121C>T (p.Pro374Leu) n.33C>T c.914C>T (p.Pro305Leu) | gnomAD v4 |
8 | g.144414049G>C | CA372620021 | SLC39A4 | c.1196C>G (p.Pro399Arg) c.1121C>G (p.Pro374Arg) n.33C>G c.914C>G (p.Pro305Arg) | |
8 | g.144414049G>T | CA372620023 | SLC39A4 | c.1196C>A (p.Pro399His) c.1121C>A (p.Pro374His) n.33C>A c.914C>A (p.Pro305His) | |
8 | g.144414049_144414071delinsGGCTGTGGGCTGAGGCCCTCTTC | CA1826306908 | SLC39A4 | c.1174_1196delinsGAAGAGGGCCTCAGCCCACAGCC (p.Glu392=) c.1099_1121delinsGAAGAGGGCCTCAGCCCACAGCC (p.Glu367=) n.11_33delinsGAAGAGGGCCTCAGCCCACAGCC c.892_914delinsGAAGAGGGCCTCAGCCCACAGCC (p.Glu298=) | |
8 | g.144414050G>A | CA372620027 | SLC39A4 | c.1195C>T (p.Pro399Ser) c.1120C>T (p.Pro374Ser) n.32C>T c.913C>T (p.Pro305Ser) | |
8 | g.144414050G>C | CA372620028 | SLC39A4 | c.1195C>G (p.Pro399Ala) c.1120C>G (p.Pro374Ala) n.32C>G c.913C>G (p.Pro305Ala) | |
8 | g.144414050G>T | CA372620030 | SLC39A4 | c.1195C>A (p.Pro399Thr) c.1120C>A (p.Pro374Thr) n.32C>A c.913C>A (p.Pro305Thr) | gnomAD v4 |
8 | g.144414056_144414077del | CA586163391 | SLC39A4 | c.1174_1195del (p.Glu392ProfsTer?) c.1099_1120del (p.Glu367ProfsTer?) n.11_32del c.892_913del (p.Glu298ProfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414051C>A | CA372620034 | SLC39A4 | c.1194G>T (p.Gln398His) c.1119G>T (p.Gln373His) n.31G>T c.912G>T (p.Gln304His) | gnomAD v4 |
8 | g.144414051C>G | CA372620036 | SLC39A4 | c.1194G>C (p.Gln398His) c.1119G>C (p.Gln373His) n.31G>C c.912G>C (p.Gln304His) | |
8 | g.144414051C>T | CA463556164 | SLC39A4 | c.1194G>A (p.Gln398=) c.1119G>A (p.Gln373=) n.31G>A c.912G>A (p.Gln304=) | |
8 | g.144414052T>A | CA372620038 | SLC39A4 | c.1193A>T (p.Gln398Leu) c.1118A>T (p.Gln373Leu) n.30A>T c.911A>T (p.Gln304Leu) | |
8 | g.144414052T>C | CA372620040 | SLC39A4 | c.1193A>G (p.Gln398Arg) c.1118A>G (p.Gln373Arg) n.30A>G c.911A>G (p.Gln304Arg) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414052T>G | CA372620042 | SLC39A4 | c.1193A>C (p.Gln398Pro) c.1118A>C (p.Gln373Pro) n.30A>C c.911A>C (p.Gln304Pro) | |
8 | g.144414052T= | CA1826306909 | SLC39A4 | c.1193A= (p.Gln398=) c.1118A= (p.Gln373=) n.30A= c.911A= (p.Gln304=) | |
8 | g.144414053G>A | CA372620046 | SLC39A4 | c.1192C>T (p.Gln398Ter) c.1117C>T (p.Gln373Ter) n.29C>T c.910C>T (p.Gln304Ter) | |
8 | g.144414053G>C | CA372620045 | SLC39A4 | c.1192C>G (p.Gln398Glu) c.1117C>G (p.Gln373Glu) n.29C>G c.910C>G (p.Gln304Glu) | gnomAD v4 |
8 | g.144414053G>T | CA372620044 | SLC39A4 | c.1192C>A (p.Gln398Lys) c.1117C>A (p.Gln373Lys) n.29C>A c.910C>A (p.Gln304Lys) | gnomAD v4 |
8 | g.144414054T>A | CA463556165 | SLC39A4 | c.1191A>T (p.Pro397=) c.1116A>T (p.Pro372=) n.28A>T c.909A>T (p.Pro303=) | |
8 | g.144414054T>C | CA4941329 | SLC39A4 | c.1191A>G (p.Pro397=) c.1116A>G (p.Pro372=) n.28A>G c.909A>G (p.Pro303=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414054T>G | CA463556166 | SLC39A4 | c.1191A>C (p.Pro397=) c.1116A>C (p.Pro372=) n.28A>C c.909A>C (p.Pro303=) | |
8 | g.144414054T= | CA1826306910 | SLC39A4 | c.1191A= (p.Pro397=) c.1116A= (p.Pro372=) n.28A= c.909A= (p.Pro303=) | |
8 | g.144414055G>A | CA372620052 | SLC39A4 | c.1190C>T (p.Pro397Leu) c.1115C>T (p.Pro372Leu) n.27C>T c.908C>T (p.Pro303Leu) | |
8 | g.144414055G>C | CA372620054 | SLC39A4 | c.1190C>G (p.Pro397Arg) c.1115C>G (p.Pro372Arg) n.27C>G c.908C>G (p.Pro303Arg) | |
8 | g.144414055G>T | CA372620057 | SLC39A4 | c.1190C>A (p.Pro397Gln) c.1115C>A (p.Pro372Gln) n.27C>A c.908C>A (p.Pro303Gln) | gnomAD v4 |
8 | g.144414057dup | CA2695210375 | SLC39A4 | c.1190dup (p.Gln398ThrfsTer20) c.1115dup (p.Gln373ThrfsTer20) n.27dup c.908dup (p.Gln304ThrfsTer20) | |
8 | g.144414056G>A | CA372620060 | SLC39A4 | c.1189C>T (p.Pro397Ser) c.1114C>T (p.Pro372Ser) n.26C>T c.907C>T (p.Pro303Ser) | |
8 | g.144414056G>C | CA372620063 | SLC39A4 | c.1189C>G (p.Pro397Ala) c.1114C>G (p.Pro372Ala) n.26C>G c.907C>G (p.Pro303Ala) | |
8 | g.144414056G>T | CA372620065 | SLC39A4 | c.1189C>A (p.Pro397Thr) c.1114C>A (p.Pro372Thr) n.26C>A c.907C>A (p.Pro303Thr) | |
8 | g.144414057G>A | CA463556171 | SLC39A4 | c.1188C>T (p.Ser396=) c.1113C>T (p.Ser371=) n.25C>T c.906C>T (p.Ser302=) | gnomAD v4 |
8 | g.144414057G>C | CA187646781 | SLC39A4 | c.1188C>G (p.Ser396Arg) c.1113C>G (p.Ser371Arg) n.25C>G c.906C>G (p.Ser302Arg) | dbSNP |
8 | g.144414057G= | CA1826306911 | SLC39A4 | c.1188C= (p.Ser396=) c.1113C= (p.Ser371=) n.25C= c.906C= (p.Ser302=) | |
8 | g.144414057G>T | CA372620068 | SLC39A4 | c.1188C>A (p.Ser396Arg) c.1113C>A (p.Ser371Arg) n.25C>A c.906C>A (p.Ser302Arg) | |
8 | g.144414058C>A | CA372620072 | SLC39A4 | c.1187G>T (p.Ser396Ile) c.1112G>T (p.Ser371Ile) n.24G>T c.905G>T (p.Ser302Ile) | |
8 | g.144414058C>G | CA372620074 | SLC39A4 | c.1187G>C (p.Ser396Thr) c.1112G>C (p.Ser371Thr) n.24G>C c.905G>C (p.Ser302Thr) | |
8 | g.144414058C>T | CA372620075 | SLC39A4 | c.1187G>A (p.Ser396Asn) c.1112G>A (p.Ser371Asn) n.24G>A c.905G>A (p.Ser302Asn) | |
8 | g.144414059T>A | CA372620078 | SLC39A4 | c.1186A>T (p.Ser396Cys) c.1111A>T (p.Ser371Cys) n.23A>T c.904A>T (p.Ser302Cys) | |
8 | g.144414059T>C | CA372620081 | SLC39A4 | c.1186A>G (p.Ser396Gly) c.1111A>G (p.Ser371Gly) n.23A>G c.904A>G (p.Ser302Gly) | |
8 | g.144414059T>G | CA372620083 | SLC39A4 | c.1186A>C (p.Ser396Arg) c.1111A>C (p.Ser371Arg) n.23A>C c.904A>C (p.Ser302Arg) | |
8 | g.144414060G>A | CA463556172 | SLC39A4 | c.1185C>T (p.Leu395=) c.1110C>T (p.Leu370=) n.22C>T c.903C>T (p.Leu301=) | gnomAD v4 |
8 | g.144414060G>C | CA463556173 | SLC39A4 | c.1185C>G (p.Leu395=) c.1110C>G (p.Leu370=) n.22C>G c.903C>G (p.Leu301=) | |
8 | g.144414060G>T | CA463556174 | SLC39A4 | c.1185C>A (p.Leu395=) c.1110C>A (p.Leu370=) n.22C>A c.903C>A (p.Leu301=) | |
8 | g.144414061A= | CA1826306912 | SLC39A4 | c.1184T= (p.Leu395=) c.1109T= (p.Leu370=) n.21T= c.902T= (p.Leu301=) | |
8 | g.144414061A>C | CA372620084 | SLC39A4 | c.1184T>G (p.Leu395Arg) c.1109T>G (p.Leu370Arg) n.21T>G c.902T>G (p.Leu301Arg) | dbSNP gnomAD v4 |
8 | g.144414061A>G | CA372620088 | SLC39A4 | c.1184T>C (p.Leu395Pro) c.1109T>C (p.Leu370Pro) n.21T>C c.902T>C (p.Leu301Pro) | |
8 | g.144414061A>T | CA372620086 | SLC39A4 | c.1184T>A (p.Leu395His) c.1109T>A (p.Leu370His) n.21T>A c.902T>A (p.Leu301His) | gnomAD v4 |
8 | g.144414062G>A | CA372620091 | SLC39A4 | c.1183C>T (p.Leu395Phe) c.1108C>T (p.Leu370Phe) n.20C>T c.901C>T (p.Leu301Phe) | |
8 | g.144414062G>C | CA372620093 | SLC39A4 | c.1183C>G (p.Leu395Val) c.1108C>G (p.Leu370Val) n.20C>G c.901C>G (p.Leu301Val) | |
8 | g.144414062G>T | CA372620095 | SLC39A4 | c.1183C>A (p.Leu395Ile) c.1108C>A (p.Leu370Ile) n.20C>A c.901C>A (p.Leu301Ile) | |
8 | g.144414063G>A | CA463556177 | SLC39A4 | c.1182C>T (p.Gly394=) c.1107C>T (p.Gly369=) n.19C>T c.900C>T (p.Gly300=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414063G>C | CA463556176 | SLC39A4 | c.1182C>G (p.Gly394=) c.1107C>G (p.Gly369=) n.19C>G c.900C>G (p.Gly300=) | gnomAD v3 gnomAD v4 |
8 | g.144414063G= | CA1826306913 | SLC39A4 | c.1182C= (p.Gly394=) c.1107C= (p.Gly369=) n.19C= c.900C= (p.Gly300=) | |
8 | g.144414063G>T | CA463556175 | SLC39A4 | c.1182C>A (p.Gly394=) c.1107C>A (p.Gly369=) n.19C>A c.900C>A (p.Gly300=) | |
8 | g.144414064C>A | CA372620099 | SLC39A4 | c.1181G>T (p.Gly394Val) c.1106G>T (p.Gly369Val) n.18G>T c.899G>T (p.Gly300Val) | dbSNP gnomAD v2 |
8 | g.144414064C= | CA1826306914 | SLC39A4 | c.1181G= (p.Gly394=) c.1106G= (p.Gly369=) n.18G= c.899G= (p.Gly300=) | |
8 | g.144414064C>G | CA372620101 | SLC39A4 | c.1181G>C (p.Gly394Ala) c.1106G>C (p.Gly369Ala) n.18G>C c.899G>C (p.Gly300Ala) | |
8 | g.144414064C>T | CA372620102 | SLC39A4 | c.1181G>A (p.Gly394Asp) c.1106G>A (p.Gly369Asp) n.18G>A c.899G>A (p.Gly300Asp) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414065C>A | CA372620106 | SLC39A4 | c.1180G>T (p.Gly394Cys) c.1105G>T (p.Gly369Cys) n.17G>T c.898G>T (p.Gly300Cys) | |
8 | g.144414065C= | CA1826306915 | SLC39A4 | c.1180G= (p.Gly394=) c.1105G= (p.Gly369=) n.17G= c.898G= (p.Gly300=) | |
8 | g.144414065C>G | CA372620108 | SLC39A4 | c.1180G>C (p.Gly394Arg) c.1105G>C (p.Gly369Arg) n.17G>C c.898G>C (p.Gly300Arg) | |
8 | g.144414065C>T | CA187646788 | SLC39A4 | c.1180G>A (p.Gly394Ser) c.1105G>A (p.Gly369Ser) n.17G>A c.898G>A (p.Gly300Ser) | dbSNP gnomAD v4 |
8 | g.144414066C>A | CA372620113 | SLC39A4 | c.1179G>T (p.Glu393Asp) c.1104G>T (p.Glu368Asp) n.16G>T c.897G>T (p.Glu299Asp) | |
8 | g.144414066C= | CA1826306916 | SLC39A4 | c.1179G= (p.Glu393=) c.1104G= (p.Glu368=) n.16G= c.897G= (p.Glu299=) | |
8 | g.144414066C>G | CA372620115 | SLC39A4 | c.1179G>C (p.Glu393Asp) c.1104G>C (p.Glu368Asp) n.16G>C c.897G>C (p.Glu299Asp) | dbSNP gnomAD v4 |
8 | g.144414066C>T | CA4941330 | SLC39A4 | c.1179G>A (p.Glu393=) c.1104G>A (p.Glu368=) n.16G>A c.897G>A (p.Glu299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414067T>A | CA372620122 | SLC39A4 | c.1178A>T (p.Glu393Val) c.1103A>T (p.Glu368Val) n.15A>T c.896A>T (p.Glu299Val) | |
8 | g.144414067T>C | CA372620124 | SLC39A4 | c.1178A>G (p.Glu393Gly) c.1103A>G (p.Glu368Gly) n.15A>G c.896A>G (p.Glu299Gly) | gnomAD v4 |
8 | g.144414067T>G | CA372620120 | SLC39A4 | c.1178A>C (p.Glu393Ala) c.1103A>C (p.Glu368Ala) n.15A>C c.896A>C (p.Glu299Ala) | |
8 | g.144414068C>A | CA372620128 | SLC39A4 | c.1177G>T (p.Glu393Ter) c.1102G>T (p.Glu368Ter) n.14G>T c.895G>T (p.Glu299Ter) | gnomAD v4 |
8 | g.144414068C>G | CA372620132 | SLC39A4 | c.1177G>C (p.Glu393Gln) c.1102G>C (p.Glu368Gln) n.14G>C c.895G>C (p.Glu299Gln) | |
8 | g.144414068C>T | CA372620130 | SLC39A4 | c.1177G>A (p.Glu393Lys) c.1102G>A (p.Glu368Lys) n.14G>A c.895G>A (p.Glu299Lys) | gnomAD v4 |
8 | g.144414069T>A | CA372620135 | SLC39A4 | c.1176A>T (p.Glu392Asp) c.1101A>T (p.Glu367Asp) n.13A>T c.894A>T (p.Glu298Asp) | |
8 | g.144414069T>C | CA463556182 | SLC39A4 | c.1176A>G (p.Glu392=) c.1101A>G (p.Glu367=) n.13A>G c.894A>G (p.Glu298=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414069T>G | CA372620137 | SLC39A4 | c.1176A>C (p.Glu392Asp) c.1101A>C (p.Glu367Asp) n.13A>C c.894A>C (p.Glu298Asp) | gnomAD v4 |
8 | g.144414069T= | CA1826306917 | SLC39A4 | c.1176A= (p.Glu392=) c.1101A= (p.Glu367=) n.13A= c.894A= (p.Glu298=) | |
8 | g.144414070T>A | CA372620141 | SLC39A4 | c.1175A>T (p.Glu392Val) c.1100A>T (p.Glu367Val) n.12A>T c.893A>T (p.Glu298Val) | |
8 | g.144414070T>C | CA372620142 | SLC39A4 | c.1175A>G (p.Glu392Gly) c.1100A>G (p.Glu367Gly) n.12A>G c.893A>G (p.Glu298Gly) | |
8 | g.144414070T>G | CA372620144 | SLC39A4 | c.1175A>C (p.Glu392Ala) c.1100A>C (p.Glu367Ala) n.12A>C c.893A>C (p.Glu298Ala) | |
8 | g.144414071C>A | CA372620148 | SLC39A4 | c.1174G>T (p.Glu392Ter) c.1099G>T (p.Glu367Ter) n.11G>T c.892G>T (p.Glu298Ter) | gnomAD v4 |
8 | g.144414071C= | CA1826306918 | SLC39A4 | c.1174G= (p.Glu392=) c.1099G= (p.Glu367=) n.11G= c.892G= (p.Glu298=) | |
8 | g.144414071C>G | CA4941332 | SLC39A4 | c.1174G>C (p.Glu392Gln) c.1099G>C (p.Glu367Gln) n.11G>C c.892G>C (p.Glu298Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414071C>T | CA4941331 | SLC39A4 | c.1174G>A (p.Glu392Lys) c.1099G>A (p.Glu367Lys) n.11G>A c.892G>A (p.Glu298Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414072G>A | CA4941333 | SLC39A4 | c.1173C>T (p.Ser391=) c.1098C>T (p.Ser366=) n.10C>T c.891C>T (p.Ser297=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414072G>C | CA187646842 | SLC39A4 | c.1173C>G (p.Ser391Arg) c.1098C>G (p.Ser366Arg) n.10C>G c.891C>G (p.Ser297Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414072G= | CA1826306919 | SLC39A4 | c.1173C= (p.Ser391=) c.1098C= (p.Ser366=) n.10C= c.891C= (p.Ser297=) | |
8 | g.144414072G>T | CA372620157 | SLC39A4 | c.1173C>A (p.Ser391Arg) c.1098C>A (p.Ser366Arg) n.10C>A c.891C>A (p.Ser297Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.144414073C>A | CA372620165 | SLC39A4 | c.1172G>T (p.Ser391Ile) c.1097G>T (p.Ser366Ile) n.9G>T c.890G>T (p.Ser297Ile) | gnomAD v4 |
8 | g.144414073C= | CA1826306920 | SLC39A4 | c.1172G= (p.Ser391=) c.1097G= (p.Ser366=) n.9G= c.890G= (p.Ser297=) | |
8 | g.144414073C>G | CA372620161 | SLC39A4 | c.1172G>C (p.Ser391Thr) c.1097G>C (p.Ser366Thr) n.9G>C c.890G>C (p.Ser297Thr) | |
8 | g.144414073C>T | CA372620163 | SLC39A4 | c.1172G>A (p.Ser391Asn) c.1097G>A (p.Ser366Asn) n.9G>A c.890G>A (p.Ser297Asn) | dbSNP gnomAD v4 |
8 | g.144414074T>A | CA372620167 | SLC39A4 | c.1171A>T (p.Ser391Cys) c.1096A>T (p.Ser366Cys) n.8A>T c.889A>T (p.Ser297Cys) | |
8 | g.144414074T>C | CA372620169 | SLC39A4 | c.1171A>G (p.Ser391Gly) c.1096A>G (p.Ser366Gly) n.8A>G c.889A>G (p.Ser297Gly) | dbSNP gnomAD v4 |
8 | g.144414074T>G | CA372620171 | SLC39A4 | c.1171A>C (p.Ser391Arg) c.1096A>C (p.Ser366Arg) n.8A>C c.889A>C (p.Ser297Arg) | |
8 | g.144414074T= | CA1826306921 | SLC39A4 | c.1171A= (p.Ser391=) c.1096A= (p.Ser366=) n.8A= c.889A= (p.Ser297=) | |
8 | g.144414079_144414080del | CA2689097752 | SLC39A4 | c.1170_1171del (p.His390GlnfsTer27) c.1095_1096del (p.His365GlnfsTer27) n.7_8del c.888_889del (p.His296GlnfsTer27) | gnomAD v4 |
8 | g.144414075G>A | CA463556190 | SLC39A4 | c.1170C>T (p.His390=) c.1095C>T (p.His365=) n.7C>T c.888C>T (p.His296=) | ClinVar dbSNP gnomAD v4 |
8 | g.144414075G>C | CA372620174 | SLC39A4 | c.1170C>G (p.His390Gln) c.1095C>G (p.His365Gln) n.7C>G c.888C>G (p.His296Gln) | gnomAD v4 |
8 | g.144414075G= | CA1826306922 | SLC39A4 | c.1170C= (p.His390=) c.1095C= (p.His365=) n.7C= c.888C= (p.His296=) | |
8 | g.144414075G>T | CA372620176 | SLC39A4 | c.1170C>A (p.His390Gln) c.1095C>A (p.His365Gln) n.7C>A c.888C>A (p.His296Gln) | |
8 | g.144414076T>A | CA372620179 | SLC39A4 | c.1169A>T (p.His390Leu) c.1094A>T (p.His365Leu) n.6A>T c.887A>T (p.His296Leu) | |
8 | g.144414076T>C | CA372620180 | SLC39A4 | c.1169A>G (p.His390Arg) c.1094A>G (p.His365Arg) n.6A>G c.887A>G (p.His296Arg) | |
8 | g.144414076T>G | CA372620181 | SLC39A4 | c.1169A>C (p.His390Pro) c.1094A>C (p.His365Pro) n.6A>C c.887A>C (p.His296Pro) | |
8 | g.144414077G>A | CA372620184 | SLC39A4 | c.1168C>T (p.His390Tyr) c.1093C>T (p.His365Tyr) n.5C>T c.886C>T (p.His296Tyr) | |
8 | g.144414077G>C | CA372620186 | SLC39A4 | c.1168C>G (p.His390Asp) c.1093C>G (p.His365Asp) n.5C>G c.886C>G (p.His296Asp) | |
8 | g.144414077G>T | CA372620188 | SLC39A4 | c.1168C>A (p.His390Asn) c.1093C>A (p.His365Asn) n.5C>A c.886C>A (p.His296Asn) | |
8 | g.144414078T>A | CA463556194 | SLC39A4 | c.1167A>T (p.Thr389=) c.1092A>T (p.Thr364=) n.4A>T c.885A>T (p.Thr295=) | |
8 | g.144414078T>C | CA463556195 | SLC39A4 | c.1167A>G (p.Thr389=) c.1092A>G (p.Thr364=) n.4A>G c.885A>G (p.Thr295=) | |
8 | g.144414078T>G | CA463556196 | SLC39A4 | c.1167A>C (p.Thr389=) c.1092A>C (p.Thr364=) n.4A>C c.885A>C (p.Thr295=) | |
8 | g.144414079G>A | CA372620193 | SLC39A4 | c.1166C>T (p.Thr389Ile) c.1091C>T (p.Thr364Ile) n.3C>T c.884C>T (p.Thr295Ile) | gnomAD v4 |
8 | g.144414079G>C | CA372620195 | SLC39A4 | c.1166C>G (p.Thr389Arg) c.1091C>G (p.Thr364Arg) n.3C>G c.884C>G (p.Thr295Arg) | |
8 | g.144414079G>T | CA372620191 | SLC39A4 | c.1166C>A (p.Thr389Lys) c.1091C>A (p.Thr364Lys) n.3C>A c.884C>A (p.Thr295Lys) | |
8 | g.144414080T>A | CA372620198 | SLC39A4 | c.1165A>T (p.Thr389Ser) c.1090A>T (p.Thr364Ser) n.2A>T c.883A>T (p.Thr295Ser) | |
8 | g.144414080T>C | CA372620201 | SLC39A4 | c.1165A>G (p.Thr389Ala) c.1090A>G (p.Thr364Ala) n.2A>G c.883A>G (p.Thr295Ala) | |
8 | g.144414080T>G | CA372620203 | SLC39A4 | c.1165A>C (p.Thr389Pro) c.1090A>C (p.Thr364Pro) n.2A>C c.883A>C (p.Thr295Pro) | |
8 | g.144414081A>C | CA372620206 | SLC39A4 | c.1164T>G (p.His388Gln) c.1089T>G (p.His363Gln) n.1T>G c.882T>G (p.His294Gln) | |
8 | g.144414081A>G | CA463556198 | SLC39A4 | c.1164T>C (p.His388=) c.1089T>C (p.His363=) n.1T>C c.882T>C (p.His294=) | ClinVar |
8 | g.144414081A>T | CA372620208 | SLC39A4 | c.1164T>A (p.His388Gln) c.1089T>A (p.His363Gln) n.1T>A c.882T>A (p.His294Gln) | |
8 | g.144414082_144414085del | CA2689097763 | SLC39A4 | c.1161_1164del (p.His390AlafsTer?) c.1086_1089del (p.His365AlafsTer?) c.879_882del (p.His296AlafsTer?) | gnomAD v4 |
8 | g.144414082T>A | CA372620212 | SLC39A4 | c.1163A>T (p.His388Leu) c.1088A>T (p.His363Leu) c.881A>T (p.His294Leu) | |
8 | g.144414082T>C | CA372620214 | SLC39A4 | c.1163A>G (p.His388Arg) c.1088A>G (p.His363Arg) c.881A>G (p.His294Arg) | gnomAD v4 |
8 | g.144414082T>G | CA372620217 | SLC39A4 | c.1163A>C (p.His388Pro) c.1088A>C (p.His363Pro) c.881A>C (p.His294Pro) | |
8 | g.144414083G>A | CA372620220 | SLC39A4 | c.1162C>T (p.His388Tyr) c.1087C>T (p.His363Tyr) c.880C>T (p.His294Tyr) | gnomAD v4 |
8 | g.144414083G>C | CA372620222 | SLC39A4 | c.1162C>G (p.His388Asp) c.1087C>G (p.His363Asp) c.880C>G (p.His294Asp) | dbSNP gnomAD v2 |
8 | g.144414083G= | CA1826306923 | SLC39A4 | c.1162C= (p.His388=) c.1087C= (p.His363=) c.880C= (p.His294=) | |
8 | g.144414083G>T | CA372620224 | SLC39A4 | c.1162C>A (p.His388Asn) c.1087C>A (p.His363Asn) c.880C>A (p.His294Asn) | |
8 | g.144414084C>A | CA463556201 | SLC39A4 | c.1161G>T (p.Leu387=) c.1086G>T (p.Leu362=) c.879G>T (p.Leu293=) | |
8 | g.144414084C>G | CA463556203 | SLC39A4 | c.1161G>C (p.Leu387=) c.1086G>C (p.Leu362=) c.879G>C (p.Leu293=) | |
8 | g.144414084C>T | CA463556205 | SLC39A4 | c.1161G>A (p.Leu387=) c.1086G>A (p.Leu362=) c.879G>A (p.Leu293=) | |
8 | g.144414085A= | CA1826306924 | SLC39A4 | c.1160T= (p.Leu387=) c.1085T= (p.Leu362=) c.878T= (p.Leu293=) | |
8 | g.144414085A>C | CA372620229 | SLC39A4 | c.1160T>G (p.Leu387Arg) c.1085T>G (p.Leu362Arg) c.878T>G (p.Leu293Arg) | |
8 | g.144414085A>G | CA372620231 | SLC39A4 | c.1160T>C (p.Leu387Pro) c.1085T>C (p.Leu362Pro) c.878T>C (p.Leu293Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.144414085A>T | CA372620232 | SLC39A4 | c.1160T>A (p.Leu387Gln) c.1085T>A (p.Leu362Gln) c.878T>A (p.Leu293Gln) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414086G>A | CA463556206 | SLC39A4 | c.1159C>T (p.Leu387=) c.1084C>T (p.Leu362=) c.877C>T (p.Leu293=) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.144414086G>C | CA372620234 | SLC39A4 | c.1159C>G (p.Leu387Val) c.1084C>G (p.Leu362Val) c.877C>G (p.Leu293Val) | |
8 | g.144414086G= | CA1826306925 | SLC39A4 | c.1159C= (p.Leu387=) c.1084C= (p.Leu362=) c.877C= (p.Leu293=) | |
8 | g.144414086G>T | CA372620236 | SLC39A4 | c.1159C>A (p.Leu387Met) c.1084C>A (p.Leu362Met) c.877C>A (p.Leu293Met) | |
8 | g.144414087C>A | CA463556207 | SLC39A4 | c.1158G>T (p.Gly386=) c.1083G>T (p.Gly361=) c.876G>T (p.Gly292=) | gnomAD v4 |
8 | g.144414087C= | CA1826306926 | SLC39A4 | c.1158G= (p.Gly386=) c.1083G= (p.Gly361=) c.876G= (p.Gly292=) | |
8 | g.144414087C>G | CA463556208 | SLC39A4 | c.1158G>C (p.Gly386=) c.1083G>C (p.Gly361=) c.876G>C (p.Gly292=) | |
8 | g.144414087C>T | CA463556209 | SLC39A4 | c.1158G>A (p.Gly386=) c.1083G>A (p.Gly361=) c.876G>A (p.Gly292=) | ClinVar dbSNP gnomAD v4 |
8 | g.144414088C>A | CA372620239 | SLC39A4 | c.1157G>T (p.Gly386Val) c.1082G>T (p.Gly361Val) c.875G>T (p.Gly292Val) | |
8 | g.144414088C>G | CA372620242 | SLC39A4 | c.1157G>C (p.Gly386Ala) c.1082G>C (p.Gly361Ala) c.875G>C (p.Gly292Ala) | |
8 | g.144414088C>T | CA372620244 | SLC39A4 | c.1157G>A (p.Gly386Glu) c.1082G>A (p.Gly361Glu) c.875G>A (p.Gly292Glu) | |
8 | g.144414089C>A | CA372620247 | SLC39A4 | c.1156G>T (p.Gly386Trp) c.1081G>T (p.Gly361Trp) c.874G>T (p.Gly292Trp) | |
8 | g.144414089C= | CA1826306927 | SLC39A4 | c.1156G= (p.Gly386=) c.1081G= (p.Gly361=) c.874G= (p.Gly292=) | |
8 | g.144414089C>G | CA372620249 | SLC39A4 | c.1156G>C (p.Gly386Arg) c.1081G>C (p.Gly361Arg) c.874G>C (p.Gly292Arg) | |
8 | g.144414089C>T | CA4941334 | SLC39A4 | c.1156G>A (p.Gly386Arg) c.1081G>A (p.Gly361Arg) c.874G>A (p.Gly292Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414090C>A | CA4941335 | SLC39A4 | c.1155G>T (p.Leu385=) c.1080G>T (p.Leu360=) c.873G>T (p.Leu291=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414090C= | CA1826306928 | SLC39A4 | c.1155G= (p.Leu385=) c.1080G= (p.Leu360=) c.873G= (p.Leu291=) | |
8 | g.144414090C>G | CA463556214 | SLC39A4 | c.1155G>C (p.Leu385=) c.1080G>C (p.Leu360=) c.873G>C (p.Leu291=) | |
8 | g.144414090C>T | CA463556215 | SLC39A4 | c.1155G>A (p.Leu385=) c.1080G>A (p.Leu360=) c.873G>A (p.Leu291=) | dbSNP |
8 | g.144414091A= | CA1826306929 | SLC39A4 | c.1154T= (p.Leu385=) c.1079T= (p.Leu360=) c.872T= (p.Leu291=) | |
8 | g.144414091A>C | CA372620255 | SLC39A4 | c.1154T>G (p.Leu385Arg) c.1079T>G (p.Leu360Arg) c.872T>G (p.Leu291Arg) | |
8 | g.144414091A>G | CA4941336 | SLC39A4 | c.1154T>C (p.Leu385Pro) c.1079T>C (p.Leu360Pro) c.872T>C (p.Leu291Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.144414091A>T | CA372620259 | SLC39A4 | c.1154T>A (p.Leu385Gln) c.1079T>A (p.Leu360Gln) c.872T>A (p.Leu291Gln) | |
8 | g.144414092G>A | CA187646906 | SLC39A4 | c.1153C>T (p.Leu385=) c.1078C>T (p.Leu360=) c.871C>T (p.Leu291=) | dbSNP gnomAD v4 |
8 | g.144414092G>C | CA372620263 | SLC39A4 | c.1153C>G (p.Leu385Val) c.1078C>G (p.Leu360Val) c.871C>G (p.Leu291Val) | dbSNP |
8 | g.144414092G= | CA1826306930 | SLC39A4 | c.1153C= (p.Leu385=) c.1078C= (p.Leu360=) c.871C= (p.Leu291=) | |
8 | g.144414092G>T | CA372620266 | SLC39A4 | c.1153C>A (p.Leu385Met) c.1078C>A (p.Leu360Met) c.871C>A (p.Leu291Met) | |
8 | g.144414093C>A | CA463556219 | SLC39A4 | c.1152G>T (p.Val384=) c.1077G>T (p.Val359=) c.870G>T (p.Val290=) | |
8 | g.144414093C= | CA1826306931 | SLC39A4 | c.1152G= (p.Val384=) c.1077G= (p.Val359=) c.870G= (p.Val290=) | |
8 | g.144414093C>G | CA463556220 | SLC39A4 | c.1152G>C (p.Val384=) c.1077G>C (p.Val359=) c.870G>C (p.Val290=) | |
8 | g.144414093C>T | CA463556221 | SLC39A4 | c.1152G>A (p.Val384=) c.1077G>A (p.Val359=) c.870G>A (p.Val290=) | ClinVar dbSNP gnomAD v4 |