| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47844920_47844921insAGGCAGCGTTACTGCTTGGAGTGCTCCTCATTGAGGCTGCGCAGGTCGGCTAGCTTCTGGATCATCTTGGCATAGAGCAGGTGGCTGCCCGGGGGCGGGTGG | CA2618497253 | VDR | c.1202_1203insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr401Ter) c.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (n.*1204_*1205insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA) c.1352_1353insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr451Ter) c.1271_1272insACGCTGCCTCCACCCGCCCCCGGGCAGCCACCTGCTCTATGCCAAGATGATCCAGAAGCTAGCCGACCTGCGCAGCCTCAATGAGGAGCACTCCAAGCAGTA (p.Tyr424Ter) | gnomAD v4 |
| 12 | g.47844860C>A | CA479696488 | VDR | c.1170G>T (p.Leu390=) c.*1172G>T (n.*1172G>T) c.1320G>T (p.Leu440=) c.1239G>T (p.Leu413=) | |
| 12 | g.47844860C>G | CA479696489 | VDR | c.1170G>C (p.Leu390=) c.*1172G>C (n.*1172G>C) c.1320G>C (p.Leu440=) c.1239G>C (p.Leu413=) | |
| 12 | g.47844860C>T | CA479696490 | VDR | c.1170G>A (p.Leu390=) c.*1172G>A (n.*1172G>A) c.1320G>A (p.Leu440=) c.1239G>A (p.Leu413=) | ClinVar |
| 12 | g.47844861A>C | CA384514165 | VDR | c.1169T>G (p.Leu390Arg) c.*1171T>G (n.*1171T>G) c.1319T>G (p.Leu440Arg) c.1238T>G (p.Leu413Arg) | |
| 12 | g.47844861A>G | CA384514168 | VDR | c.1169T>C (p.Leu390Pro) c.*1171T>C (n.*1171T>C) c.1319T>C (p.Leu440Pro) c.1238T>C (p.Leu413Pro) | |
| 12 | g.47844861A>T | CA384514167 | VDR | c.1169T>A (p.Leu390Gln) c.*1171T>A (n.*1171T>A) c.1319T>A (p.Leu440Gln) c.1238T>A (p.Leu413Gln) | |
| 12 | g.47844862G>A | CA479696491 | VDR | c.1168C>T (p.Leu390=) c.*1170C>T (n.*1170C>T) c.1318C>T (p.Leu440=) c.1237C>T (p.Leu413=) | |
| 12 | g.47844862G>C | CA384514170 | VDR | c.1168C>G (p.Leu390Val) c.*1170C>G (n.*1170C>G) c.1318C>G (p.Leu440Val) c.1237C>G (p.Leu413Val) | |
| 12 | g.47844862G>T | CA384514171 | VDR | c.1168C>A (p.Leu390Met) c.*1170C>A (n.*1170C>A) c.1318C>A (p.Leu440Met) c.1237C>A (p.Leu413Met) | |
| 12 | g.47844863G>A | CA479696492 | VDR | c.1167C>T (p.Asp389=) c.*1169C>T (n.*1169C>T) c.1317C>T (p.Asp439=) c.1236C>T (p.Asp412=) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844863G>C | CA384514173 | VDR | c.1167C>G (p.Asp389Glu) c.*1169C>G (n.*1169C>G) c.1317C>G (p.Asp439Glu) c.1236C>G (p.Asp412Glu) | |
| 12 | g.47844863G>T | CA384514175 | VDR | c.1167C>A (p.Asp389Glu) c.*1169C>A (n.*1169C>A) c.1317C>A (p.Asp439Glu) c.1236C>A (p.Asp412Glu) | |
| 12 | g.47844864T>A | CA384514176 | VDR | c.1166A>T (p.Asp389Val) c.*1168A>T (n.*1168A>T) c.1316A>T (p.Asp439Val) c.1235A>T (p.Asp412Val) | |
| 12 | g.47844864T>C | CA384514178 | VDR | c.1166A>G (p.Asp389Gly) c.*1168A>G (n.*1168A>G) c.1316A>G (p.Asp439Gly) c.1235A>G (p.Asp412Gly) | |
| 12 | g.47844864T>G | CA384514180 | VDR | c.1166A>C (p.Asp389Ala) c.*1168A>C (n.*1168A>C) c.1316A>C (p.Asp439Ala) c.1235A>C (p.Asp412Ala) | |
| 12 | g.47844865C>A | CA384514181 | VDR | c.1165G>T (p.Asp389Tyr) c.*1167G>T (n.*1167G>T) c.1315G>T (p.Asp439Tyr) c.1234G>T (p.Asp412Tyr) | |
| 12 | g.47844865C= | CA2034408960 | VDR | c.1165G= (p.Asp389=) c.*1167G= (n.*1167G=) c.1315G= (p.Asp439=) c.1234G= (p.Asp412=) | |
| 12 | g.47844865C>G | CA384514183 | VDR | c.1165G>C (p.Asp389His) c.*1167G>C (n.*1167G>C) c.1315G>C (p.Asp439His) c.1234G>C (p.Asp412His) | |
| 12 | g.47844865C>T | CA6533731 | VDR | c.1165G>A (p.Asp389Asn) c.*1167G>A (n.*1167G>A) c.1315G>A (p.Asp439Asn) c.1234G>A (p.Asp412Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844866G>A | CA6533732 | VDR | c.1164C>T (p.Ala388=) c.*1166C>T (n.*1166C>T) c.1314C>T (p.Ala438=) c.1233C>T (p.Ala411=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844866G>C | CA479696493 | VDR | c.1164C>G (p.Ala388=) c.*1166C>G (n.*1166C>G) c.1314C>G (p.Ala438=) c.1233C>G (p.Ala411=) | |
| 12 | g.47844866G= | CA2034408961 | VDR | c.1164C= (p.Ala388=) c.*1166C= (n.*1166C=) c.1314C= (p.Ala438=) c.1233C= (p.Ala411=) | |
| 12 | g.47844866G>T | CA479696494 | VDR | c.1164C>A (p.Ala388=) c.*1166C>A (n.*1166C>A) c.1314C>A (p.Ala438=) c.1233C>A (p.Ala411=) | |
| 12 | g.47844867G>A | CA384514189 | VDR | c.1163C>T (p.Ala388Val) c.*1165C>T (n.*1165C>T) c.1313C>T (p.Ala438Val) c.1232C>T (p.Ala411Val) | gnomAD v4 |
| 12 | g.47844867G>C | CA384514187 | VDR | c.1163C>G (p.Ala388Gly) c.*1165C>G (n.*1165C>G) c.1313C>G (p.Ala438Gly) c.1232C>G (p.Ala411Gly) | dbSNP |
| 12 | g.47844867G= | CA2034408962 | VDR | c.1163C= (p.Ala388=) c.*1165C= (n.*1165C=) c.1313C= (p.Ala438=) c.1232C= (p.Ala411=) | |
| 12 | g.47844867G>T | CA384514186 | VDR | c.1163C>A (p.Ala388Asp) c.*1165C>A (n.*1165C>A) c.1313C>A (p.Ala438Asp) c.1232C>A (p.Ala411Asp) | ClinVar dbSNP |
| 12 | g.47844868C>A | CA384514190 | VDR | c.1162G>T (p.Ala388Ser) c.*1164G>T (n.*1164G>T) c.1312G>T (p.Ala438Ser) c.1231G>T (p.Ala411Ser) | |
| 12 | g.47844868C>G | CA384514191 | VDR | c.1162G>C (p.Ala388Pro) c.*1164G>C (n.*1164G>C) c.1312G>C (p.Ala438Pro) c.1231G>C (p.Ala411Pro) | |
| 12 | g.47844868C>T | CA384514192 | VDR | c.1162G>A (p.Ala388Thr) c.*1164G>A (n.*1164G>A) c.1312G>A (p.Ala438Thr) c.1231G>A (p.Ala411Thr) | |
| 12 | g.47844869T>A | CA479696495 | VDR | c.1161A>T (p.Leu387=) c.*1163A>T (n.*1163A>T) c.1311A>T (p.Leu437=) c.1230A>T (p.Leu410=) | |
| 12 | g.47844869T>C | CA479696496 | VDR | c.1161A>G (p.Leu387=) c.*1163A>G (n.*1163A>G) c.1311A>G (p.Leu437=) c.1230A>G (p.Leu410=) | gnomAD v4 |
| 12 | g.47844869T>G | CA479696497 | VDR | c.1161A>C (p.Leu387=) c.*1163A>C (n.*1163A>C) c.1311A>C (p.Leu437=) c.1230A>C (p.Leu410=) | |
| 12 | g.47844870A= | CA2034408963 | VDR | c.1160T= (p.Leu387=) c.*1162T= (n.*1162T=) c.1310T= (p.Leu437=) c.1229T= (p.Leu410=) | |
| 12 | g.47844870A>C | CA384514194 | VDR | c.1160T>G (p.Leu387Arg) c.*1162T>G (n.*1162T>G) c.1310T>G (p.Leu437Arg) c.1229T>G (p.Leu410Arg) | |
| 12 | g.47844870A>G | CA384514196 | VDR | c.1160T>C (p.Leu387Pro) c.*1162T>C (n.*1162T>C) c.1310T>C (p.Leu437Pro) c.1229T>C (p.Leu410Pro) | dbSNP |
| 12 | g.47844870A>T | CA384514198 | VDR | c.1160T>A (p.Leu387Gln) c.*1162T>A (n.*1162T>A) c.1310T>A (p.Leu437Gln) c.1229T>A (p.Leu410Gln) | |
| 12 | g.47844871G>A | CA479696498 | VDR | c.1159C>T (p.Leu387=) c.*1161C>T (n.*1161C>T) c.1309C>T (p.Leu437=) c.1228C>T (p.Leu410=) | gnomAD v4 |
| 12 | g.47844871G>C | CA384514199 | VDR | c.1159C>G (p.Leu387Val) c.*1161C>G (n.*1161C>G) c.1309C>G (p.Leu437Val) c.1228C>G (p.Leu410Val) | |
| 12 | g.47844871G>T | CA384514200 | VDR | c.1159C>A (p.Leu387Ile) c.*1161C>A (n.*1161C>A) c.1309C>A (p.Leu437Ile) c.1228C>A (p.Leu410Ile) | |
| 12 | g.47844872C>A | CA384514202 | VDR | c.1158G>T (p.Lys386Asn) c.*1160G>T (n.*1160G>T) c.1308G>T (p.Lys436Asn) c.1227G>T (p.Lys409Asn) | |
| 12 | g.47844872C= | CA2034408964 | VDR | c.1158G= (p.Lys386=) c.*1160G= (n.*1160G=) c.1308G= (p.Lys436=) c.1227G= (p.Lys409=) | |
| 12 | g.47844872C>G | CA384514204 | VDR | c.1158G>C (p.Lys386Asn) c.*1160G>C (n.*1160G>C) c.1308G>C (p.Lys436Asn) c.1227G>C (p.Lys409Asn) | |
| 12 | g.47844872C>T | CA236506075 | VDR | c.1158G>A (p.Lys386=) c.*1160G>A (n.*1160G>A) c.1308G>A (p.Lys436=) c.1227G>A (p.Lys409=) | dbSNP gnomAD v4 |
| 12 | g.47844873T>A | CA384514205 | VDR | c.1157A>T (p.Lys386Met) c.*1159A>T (n.*1159A>T) c.1307A>T (p.Lys436Met) c.1226A>T (p.Lys409Met) | |
| 12 | g.47844873T>C | CA236506086 | VDR | c.1157A>G (p.Lys386Arg) c.*1159A>G (n.*1159A>G) c.1307A>G (p.Lys436Arg) c.1226A>G (p.Lys409Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844873T>G | CA384514208 | VDR | c.1157A>C (p.Lys386Thr) c.*1159A>C (n.*1159A>C) c.1307A>C (p.Lys436Thr) c.1226A>C (p.Lys409Thr) | |
| 12 | g.47844873T= | CA2034408965 | VDR | c.1157A= (p.Lys386=) c.*1159A= (n.*1159A=) c.1307A= (p.Lys436=) c.1226A= (p.Lys409=) | |
| 12 | g.47844874T>A | CA384514212 | VDR | c.1156A>T (p.Lys386Ter) c.*1158A>T (n.*1158A>T) c.1306A>T (p.Lys436Ter) c.1225A>T (p.Lys409Ter) | |
| 12 | g.47844874T>C | CA384514211 | VDR | c.1156A>G (p.Lys386Glu) c.*1158A>G (n.*1158A>G) c.1306A>G (p.Lys436Glu) c.1225A>G (p.Lys409Glu) | |
| 12 | g.47844874T>G | CA384514209 | VDR | c.1156A>C (p.Lys386Gln) c.*1158A>C (n.*1158A>C) c.1306A>C (p.Lys436Gln) c.1225A>C (p.Lys409Gln) | |
| 12 | g.47844875C>A | CA384514216 | VDR | c.1155G>T (p.Gln385His) c.*1157G>T (n.*1157G>T) c.1305G>T (p.Gln435His) c.1224G>T (p.Gln408His) | |
| 12 | g.47844875C>G | CA384514214 | VDR | c.1155G>C (p.Gln385His) c.*1157G>C (n.*1157G>C) c.1305G>C (p.Gln435His) c.1224G>C (p.Gln408His) | |
| 12 | g.47844875C>T | CA479696499 | VDR | c.1155G>A (p.Gln385=) c.*1157G>A (n.*1157G>A) c.1305G>A (p.Gln435=) c.1224G>A (p.Gln408=) | dbSNP |
| 12 | g.47844876T>A | CA384514217 | VDR | c.1154A>T (p.Gln385Leu) c.*1156A>T (n.*1156A>T) c.1304A>T (p.Gln435Leu) c.1223A>T (p.Gln408Leu) | |
| 12 | g.47844876T>C | CA384514219 | VDR | c.1154A>G (p.Gln385Arg) c.*1156A>G (n.*1156A>G) c.1304A>G (p.Gln435Arg) c.1223A>G (p.Gln408Arg) | |
| 12 | g.47844876T>G | CA384514220 | VDR | c.1154A>C (p.Gln385Pro) c.*1156A>C (n.*1156A>C) c.1304A>C (p.Gln435Pro) c.1223A>C (p.Gln408Pro) | |
| 12 | g.47844877G>A | CA384514221 | VDR | c.1153C>T (p.Gln385Ter) c.*1155C>T (n.*1155C>T) c.1303C>T (p.Gln435Ter) c.1222C>T (p.Gln408Ter) | |
| 12 | g.47844877G>C | CA384514222 | VDR | c.1153C>G (p.Gln385Glu) c.*1155C>G (n.*1155C>G) c.1303C>G (p.Gln435Glu) c.1222C>G (p.Gln408Glu) | |
| 12 | g.47844877G>T | CA384514224 | VDR | c.1153C>A (p.Gln385Lys) c.*1155C>A (n.*1155C>A) c.1303C>A (p.Gln435Lys) c.1222C>A (p.Gln408Lys) | |
| 12 | g.47844878G>A | CA479696500 | VDR | c.1152C>T (p.Ile384=) c.*1154C>T (n.*1154C>T) c.1302C>T (p.Ile434=) c.1221C>T (p.Ile407=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844878G>C | CA384514226 | VDR | c.1152C>G (p.Ile384Met) c.*1154C>G (n.*1154C>G) c.1302C>G (p.Ile434Met) c.1221C>G (p.Ile407Met) | gnomAD v4 |
| 12 | g.47844878G= | CA2034408966 | VDR | c.1152C= (p.Ile384=) c.*1154C= (n.*1154C=) c.1302C= (p.Ile434=) c.1221C= (p.Ile407=) | |
| 12 | g.47844878G>T | CA6533733 | VDR | c.1152C>A (p.Ile384=) c.*1154C>A (n.*1154C>A) c.1302C>A (p.Ile434=) c.1221C>A (p.Ile407=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844879A= | CA2034408967 | VDR | c.1151T= (p.Ile384=) c.*1153T= (n.*1153T=) c.1301T= (p.Ile434=) c.1220T= (p.Ile407=) | |
| 12 | g.47844879A>C | CA384514227 | VDR | c.1151T>G (p.Ile384Ser) c.*1153T>G (n.*1153T>G) c.1301T>G (p.Ile434Ser) c.1220T>G (p.Ile407Ser) | |
| 12 | g.47844879A>G | CA384514228 | VDR | c.1151T>C (p.Ile384Thr) c.*1153T>C (n.*1153T>C) c.1301T>C (p.Ile434Thr) c.1220T>C (p.Ile407Thr) | dbSNP |
| 12 | g.47844879A>T | CA384514230 | VDR | c.1151T>A (p.Ile384Asn) c.*1153T>A (n.*1153T>A) c.1301T>A (p.Ile434Asn) c.1220T>A (p.Ile407Asn) | |
| 12 | g.47844880T>A | CA384514233 | VDR | c.1150A>T (p.Ile384Phe) c.*1152A>T (n.*1152A>T) c.1300A>T (p.Ile434Phe) c.1219A>T (p.Ile407Phe) | |
| 12 | g.47844880T>C | CA384514235 | VDR | c.1150A>G (p.Ile384Val) c.*1152A>G (n.*1152A>G) c.1300A>G (p.Ile434Val) c.1219A>G (p.Ile407Val) | |
| 12 | g.47844880T>G | CA384514232 | VDR | c.1150A>C (p.Ile384Leu) c.*1152A>C (n.*1152A>C) c.1300A>C (p.Ile434Leu) c.1219A>C (p.Ile407Leu) | |
| 12 | g.47844881C>A | CA384514237 | VDR | c.1149G>T (p.Met383Ile) c.*1151G>T (n.*1151G>T) c.1299G>T (p.Met433Ile) c.1218G>T (p.Met406Ile) | |
| 12 | g.47844881C>G | CA384514238 | VDR | c.1149G>C (p.Met383Ile) c.*1151G>C (n.*1151G>C) c.1299G>C (p.Met433Ile) c.1218G>C (p.Met406Ile) | |
| 12 | g.47844881C>T | CA384514240 | VDR | c.1149G>A (p.Met383Ile) c.*1151G>A (n.*1151G>A) c.1299G>A (p.Met433Ile) c.1218G>A (p.Met406Ile) | |
| 12 | g.47844882A>C | CA384514241 | VDR | c.1148T>G (p.Met383Arg) c.*1150T>G (n.*1150T>G) c.1298T>G (p.Met433Arg) c.1217T>G (p.Met406Arg) | |
| 12 | g.47844882A>G | CA384514243 | VDR | c.1148T>C (p.Met383Thr) c.*1150T>C (n.*1150T>C) c.1298T>C (p.Met433Thr) c.1217T>C (p.Met406Thr) | |
| 12 | g.47844882A>T | CA384514244 | VDR | c.1148T>A (p.Met383Lys) c.*1150T>A (n.*1150T>A) c.1298T>A (p.Met433Lys) c.1217T>A (p.Met406Lys) | |
| 12 | g.47844883T>A | CA384514245 | VDR | c.1147A>T (p.Met383Leu) c.*1149A>T (n.*1149A>T) c.1297A>T (p.Met433Leu) c.1216A>T (p.Met406Leu) | |
| 12 | g.47844883T>C | CA384514248 | VDR | c.1147A>G (p.Met383Val) c.*1149A>G (n.*1149A>G) c.1297A>G (p.Met433Val) c.1216A>G (p.Met406Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844883T>G | CA384514247 | VDR | c.1147A>C (p.Met383Leu) c.*1149A>C (n.*1149A>C) c.1297A>C (p.Met433Leu) c.1216A>C (p.Met406Leu) | |
| 12 | g.47844883T= | CA2034408968 | VDR | c.1147A= (p.Met383=) c.*1149A= (n.*1149A=) c.1297A= (p.Met433=) c.1216A= (p.Met406=) | |
| 12 | g.47844884C>A | CA384514249 | VDR | c.1146G>T (p.Lys382Asn) c.*1148G>T (n.*1148G>T) c.1296G>T (p.Lys432Asn) c.1215G>T (p.Lys405Asn) | |
| 12 | g.47844884C>G | CA384514250 | VDR | c.1146G>C (p.Lys382Asn) c.*1148G>C (n.*1148G>C) c.1296G>C (p.Lys432Asn) c.1215G>C (p.Lys405Asn) | |
| 12 | g.47844884C>T | CA479696501 | VDR | c.1146G>A (p.Lys382=) c.*1148G>A (n.*1148G>A) c.1296G>A (p.Lys432=) c.1215G>A (p.Lys405=) | |
| 12 | g.47844885T>A | CA384514251 | VDR | c.1145A>T (p.Lys382Met) c.*1147A>T (n.*1147A>T) c.1295A>T (p.Lys432Met) c.1214A>T (p.Lys405Met) | |
| 12 | g.47844885T>C | CA6533734 | VDR | c.1145A>G (p.Lys382Arg) c.*1147A>G (n.*1147A>G) c.1295A>G (p.Lys432Arg) c.1214A>G (p.Lys405Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844885T>G | CA384514253 | VDR | c.1145A>C (p.Lys382Thr) c.*1147A>C (n.*1147A>C) c.1295A>C (p.Lys432Thr) c.1214A>C (p.Lys405Thr) | |
| 12 | g.47844885T= | CA2034408969 | VDR | c.1145A= (p.Lys382=) c.*1147A= (n.*1147A=) c.1295A= (p.Lys432=) c.1214A= (p.Lys405=) | |
| 12 | g.47844886T>A | CA384514256 | VDR | c.1144A>T (p.Lys382Ter) c.*1146A>T (n.*1146A>T) c.1294A>T (p.Lys432Ter) c.1213A>T (p.Lys405Ter) | |
| 12 | g.47844886T>C | CA384514257 | VDR | c.1144A>G (p.Lys382Glu) c.*1146A>G (n.*1146A>G) c.1294A>G (p.Lys432Glu) c.1213A>G (p.Lys405Glu) | |
| 12 | g.47844886T>G | CA384514254 | VDR | c.1144A>C (p.Lys382Gln) c.*1146A>C (n.*1146A>C) c.1294A>C (p.Lys432Gln) c.1213A>C (p.Lys405Gln) | |
| 12 | g.47844887G>A | CA479696504 | VDR | c.1143C>T (p.Ala381=) c.*1145C>T (n.*1145C>T) c.1293C>T (p.Ala431=) c.1212C>T (p.Ala404=) | |
| 12 | g.47844887G>C | CA479696503 | VDR | c.1143C>G (p.Ala381=) c.*1145C>G (n.*1145C>G) c.1293C>G (p.Ala431=) c.1212C>G (p.Ala404=) | |
| 12 | g.47844887G>T | CA479696502 | VDR | c.1143C>A (p.Ala381=) c.*1145C>A (n.*1145C>A) c.1293C>A (p.Ala431=) c.1212C>A (p.Ala404=) | |
| 12 | g.47844888G>A | CA384514259 | VDR | c.1142C>T (p.Ala381Val) c.*1144C>T (n.*1144C>T) c.1292C>T (p.Ala431Val) c.1211C>T (p.Ala404Val) | |
| 12 | g.47844888G>C | CA384514261 | VDR | c.1142C>G (p.Ala381Gly) c.*1144C>G (n.*1144C>G) c.1292C>G (p.Ala431Gly) c.1211C>G (p.Ala404Gly) | |
| 12 | g.47844888G>T | CA384514263 | VDR | c.1142C>A (p.Ala381Asp) c.*1144C>A (n.*1144C>A) c.1292C>A (p.Ala431Asp) c.1211C>A (p.Ala404Asp) | |
| 12 | g.47844889C>A | CA384514264 | VDR | c.1141G>T (p.Ala381Ser) c.*1143G>T (n.*1143G>T) c.1291G>T (p.Ala431Ser) c.1210G>T (p.Ala404Ser) | |
| 12 | g.47844889C>G | CA384514266 | VDR | c.1141G>C (p.Ala381Pro) c.*1143G>C (n.*1143G>C) c.1291G>C (p.Ala431Pro) c.1210G>C (p.Ala404Pro) | |
| 12 | g.47844889C>T | CA384514268 | VDR | c.1141G>A (p.Ala381Thr) c.*1143G>A (n.*1143G>A) c.1291G>A (p.Ala431Thr) c.1210G>A (p.Ala404Thr) | |
| 12 | g.47844890A>C | CA384514269 | VDR | c.1140T>G (p.Tyr380Ter) c.*1142T>G (n.*1142T>G) c.1290T>G (p.Tyr430Ter) c.1209T>G (p.Tyr403Ter) | |
| 12 | g.47844890A>G | CA479696505 | VDR | c.1140T>C (p.Tyr380=) c.*1142T>C (n.*1142T>C) c.1290T>C (p.Tyr430=) c.1209T>C (p.Tyr403=) | gnomAD v4 |
| 12 | g.47844890A>T | CA384514271 | VDR | c.1140T>A (p.Tyr380Ter) c.*1142T>A (n.*1142T>A) c.1290T>A (p.Tyr430Ter) c.1209T>A (p.Tyr403Ter) | |
| 12 | g.47844891T>A | CA384514272 | VDR | c.1139A>T (p.Tyr380Phe) c.*1141A>T (n.*1141A>T) c.1289A>T (p.Tyr430Phe) c.1208A>T (p.Tyr403Phe) | |
| 12 | g.47844891T>C | CA384514276 | VDR | c.1139A>G (p.Tyr380Cys) c.*1141A>G (n.*1141A>G) c.1289A>G (p.Tyr430Cys) c.1208A>G (p.Tyr403Cys) | |
| 12 | g.47844891T>G | CA384514274 | VDR | c.1139A>C (p.Tyr380Ser) c.*1141A>C (n.*1141A>C) c.1289A>C (p.Tyr430Ser) c.1208A>C (p.Tyr403Ser) | |
| 12 | g.47844892A>C | CA384514278 | VDR | c.1138T>G (p.Tyr380Asp) c.*1140T>G (n.*1140T>G) c.1288T>G (p.Tyr430Asp) c.1207T>G (p.Tyr403Asp) | |
| 12 | g.47844892A>G | CA384514279 | VDR | c.1138T>C (p.Tyr380His) c.*1140T>C (n.*1140T>C) c.1288T>C (p.Tyr430His) c.1207T>C (p.Tyr403His) | |
| 12 | g.47844892A>T | CA384514281 | VDR | c.1138T>A (p.Tyr380Asn) c.*1140T>A (n.*1140T>A) c.1288T>A (p.Tyr430Asn) c.1207T>A (p.Tyr403Asn) | |
| 12 | g.47844893G>A | CA479696506 | VDR | c.1137C>T (p.Leu379=) c.*1139C>T (n.*1139C>T) c.1287C>T (p.Leu429=) c.1206C>T (p.Leu402=) | gnomAD v4 |
| 12 | g.47844893G>C | CA6533735 | VDR | c.1137C>G (p.Leu379=) c.*1139C>G (n.*1139C>G) c.1287C>G (p.Leu429=) c.1206C>G (p.Leu402=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844893G= | CA2034408970 | VDR | c.1137C= (p.Leu379=) c.*1139C= (n.*1139C=) c.1287C= (p.Leu429=) c.1206C= (p.Leu402=) | |
| 12 | g.47844893G>T | CA479696507 | VDR | c.1137C>A (p.Leu379=) c.*1139C>A (n.*1139C>A) c.1287C>A (p.Leu429=) c.1206C>A (p.Leu402=) | |
| 12 | g.47844894A>C | CA384514283 | VDR | c.1136T>G (p.Leu379Arg) c.*1138T>G (n.*1138T>G) c.1286T>G (p.Leu429Arg) c.1205T>G (p.Leu402Arg) | |
| 12 | g.47844894A>G | CA384514286 | VDR | c.1136T>C (p.Leu379Pro) c.*1138T>C (n.*1138T>C) c.1286T>C (p.Leu429Pro) c.1205T>C (p.Leu402Pro) | |
| 12 | g.47844894A>T | CA384514285 | VDR | c.1136T>A (p.Leu379His) c.*1138T>A (n.*1138T>A) c.1286T>A (p.Leu429His) c.1205T>A (p.Leu402His) | |
| 12 | g.47844895G>A | CA384514289 | VDR | c.1135C>T (p.Leu379Phe) c.*1137C>T (n.*1137C>T) c.1285C>T (p.Leu429Phe) c.1204C>T (p.Leu402Phe) | COSMIC |
| 12 | g.47844895G>C | CA384514290 | VDR | c.1135C>G (p.Leu379Val) c.*1137C>G (n.*1137C>G) c.1285C>G (p.Leu429Val) c.1204C>G (p.Leu402Val) | |
| 12 | g.47844895G>T | CA384514291 | VDR | c.1135C>A (p.Leu379Ile) c.*1137C>A (n.*1137C>A) c.1285C>A (p.Leu429Ile) c.1204C>A (p.Leu402Ile) | gnomAD v4 |
| 12 | g.47844896C>A | CA6533736 | VDR | c.1134G>T (p.Leu378=) c.*1136G>T (n.*1136G>T) c.1284G>T (p.Leu428=) c.1203G>T (p.Leu401=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844896C= | CA2034408971 | VDR | c.1134G= (p.Leu378=) c.*1136G= (n.*1136G=) c.1284G= (p.Leu428=) c.1203G= (p.Leu401=) | |
| 12 | g.47844896C>G | CA479696508 | VDR | c.1134G>C (p.Leu378=) c.*1136G>C (n.*1136G>C) c.1284G>C (p.Leu428=) c.1203G>C (p.Leu401=) | gnomAD v4 |
| 12 | g.47844896C>T | CA479696509 | VDR | c.1134G>A (p.Leu378=) c.*1136G>A (n.*1136G>A) c.1284G>A (p.Leu428=) c.1203G>A (p.Leu401=) | ClinVar |
| 12 | g.47844897A= | CA2034408973 | VDR | c.1133T= (p.Leu378=) c.*1135T= (n.*1135T=) c.1283T= (p.Leu428=) c.1202T= (p.Leu401=) | |
| 12 | g.47844897A>C | CA384514293 | VDR | c.1133T>G (p.Leu378Arg) c.*1135T>G (n.*1135T>G) c.1283T>G (p.Leu428Arg) c.1202T>G (p.Leu401Arg) | |
| 12 | g.47844897A>G | CA384514295 | VDR | c.1133T>C (p.Leu378Pro) c.*1135T>C (n.*1135T>C) c.1283T>C (p.Leu428Pro) c.1202T>C (p.Leu401Pro) | dbSNP gnomAD v2 |
| 12 | g.47844897A>T | CA384514297 | VDR | c.1133T>A (p.Leu378Gln) c.*1135T>A (n.*1135T>A) c.1283T>A (p.Leu428Gln) c.1202T>A (p.Leu401Gln) | |
| 12 | g.47844897_47844900delinsAGGT | CA2034408972 | VDR | c.1130_1133delinsACCT (p.His377=) c.*1132_*1135delinsACCT (n.*1132_*1135delinsACCT) c.1280_1283delinsACCT (p.His427=) c.1199_1202delinsACCT (p.His400=) | |
| 12 | g.47844898G>A | CA479696510 | VDR | c.1132C>T (p.Leu378=) c.*1134C>T (n.*1134C>T) c.1282C>T (p.Leu428=) c.1201C>T (p.Leu401=) | gnomAD v4 |
| 12 | g.47844898G>C | CA384514298 | VDR | c.1132C>G (p.Leu378Val) c.*1134C>G (n.*1134C>G) c.1282C>G (p.Leu428Val) c.1201C>G (p.Leu401Val) | |
| 12 | g.47844898G>T | CA384514300 | VDR | c.1132C>A (p.Leu378Met) c.*1134C>A (n.*1134C>A) c.1282C>A (p.Leu428Met) c.1201C>A (p.Leu401Met) | gnomAD v4 |
| 12 | g.47844900_47844902del | CA689460477 | VDR | c.1130_1132del (p.His377del) c.*1132_*1134del (n.*1132_*1134del) c.1280_1282del (p.His427del) c.1199_1201del (p.His400del) | dbSNP |
| 12 | g.47844899G>A | CA6533737 | VDR | c.1131C>T (p.His377=) c.*1133C>T (n.*1133C>T) c.1281C>T (p.His427=) c.1200C>T (p.His400=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844899G>C | CA384514303 | VDR | c.1131C>G (p.His377Gln) c.*1133C>G (n.*1133C>G) c.1281C>G (p.His427Gln) c.1200C>G (p.His400Gln) | |
| 12 | g.47844899G= | CA2034408974 | VDR | c.1131C= (p.His377=) c.*1133C= (n.*1133C=) c.1281C= (p.His427=) c.1200C= (p.His400=) | |
| 12 | g.47844899G>T | CA384514305 | VDR | c.1131C>A (p.His377Gln) c.*1133C>A (n.*1133C>A) c.1281C>A (p.His427Gln) c.1200C>A (p.His400Gln) | |
| 12 | g.47844900T>A | CA384514307 | VDR | c.1130A>T (p.His377Leu) c.*1132A>T (n.*1132A>T) c.1280A>T (p.His427Leu) c.1199A>T (p.His400Leu) | |
| 12 | g.47844900T>C | CA384514310 | VDR | c.1130A>G (p.His377Arg) c.*1132A>G (n.*1132A>G) c.1280A>G (p.His427Arg) c.1199A>G (p.His400Arg) | gnomAD v4 |
| 12 | g.47844900T>G | CA384514308 | VDR | c.1130A>C (p.His377Pro) c.*1132A>C (n.*1132A>C) c.1280A>C (p.His427Pro) c.1199A>C (p.His400Pro) | |
| 12 | g.47844901G>A | CA236506132 | VDR | c.1129C>T (p.His377Tyr) c.*1131C>T (n.*1131C>T) c.1279C>T (p.His427Tyr) c.1198C>T (p.His400Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844901G>C | CA384514313 | VDR | c.1129C>G (p.His377Asp) c.*1131C>G (n.*1131C>G) c.1279C>G (p.His427Asp) c.1198C>G (p.His400Asp) | |
| 12 | g.47844901G= | CA2034408975 | VDR | c.1129C= (p.His377=) c.*1131C= (n.*1131C=) c.1279C= (p.His427=) c.1198C= (p.His400=) | |
| 12 | g.47844901G>T | CA384514315 | VDR | c.1129C>A (p.His377Asn) c.*1131C>A (n.*1131C>A) c.1279C>A (p.His427Asn) c.1198C>A (p.His400Asn) | |
| 12 | g.47844902G>A | CA479696511 | VDR | c.1128C>T (p.Ser376=) c.*1130C>T (n.*1130C>T) c.1278C>T (p.Ser426=) c.1197C>T (p.Ser399=) | ClinVar |
| 12 | g.47844902G>C | CA384514317 | VDR | c.1128C>G (p.Ser376Arg) c.*1130C>G (n.*1130C>G) c.1278C>G (p.Ser426Arg) c.1197C>G (p.Ser399Arg) | |
| 12 | g.47844902G>T | CA384514319 | VDR | c.1128C>A (p.Ser376Arg) c.*1130C>A (n.*1130C>A) c.1278C>A (p.Ser426Arg) c.1197C>A (p.Ser399Arg) | |
| 12 | g.47844903C>A | CA384514321 | VDR | c.1127G>T (p.Ser376Ile) c.*1129G>T (n.*1129G>T) c.1277G>T (p.Ser426Ile) c.1196G>T (p.Ser399Ile) | |
| 12 | g.47844903C>G | CA384514322 | VDR | c.1127G>C (p.Ser376Thr) c.*1129G>C (n.*1129G>C) c.1277G>C (p.Ser426Thr) c.1196G>C (p.Ser399Thr) | |
| 12 | g.47844903C>T | CA384514323 | VDR | c.1127G>A (p.Ser376Asn) c.*1129G>A (n.*1129G>A) c.1277G>A (p.Ser426Asn) c.1196G>A (p.Ser399Asn) | |
| 12 | g.47844904T>A | CA384514325 | VDR | c.1126A>T (p.Ser376Cys) c.*1128A>T (n.*1128A>T) c.1276A>T (p.Ser426Cys) c.1195A>T (p.Ser399Cys) | |
| 12 | g.47844904T>C | CA384514326 | VDR | c.1126A>G (p.Ser376Gly) c.*1128A>G (n.*1128A>G) c.1276A>G (p.Ser426Gly) c.1195A>G (p.Ser399Gly) | gnomAD v4 |
| 12 | g.47844904T>G | CA384514328 | VDR | c.1126A>C (p.Ser376Arg) c.*1128A>C (n.*1128A>C) c.1276A>C (p.Ser426Arg) c.1195A>C (p.Ser399Arg) | |
| 12 | g.47844905G>A | CA479696512 | VDR | c.1125C>T (p.Gly375=) c.*1127C>T (n.*1127C>T) c.1275C>T (p.Gly425=) c.1194C>T (p.Gly398=) | |
| 12 | g.47844905G>C | CA479696513 | VDR | c.1125C>G (p.Gly375=) c.*1127C>G (n.*1127C>G) c.1275C>G (p.Gly425=) c.1194C>G (p.Gly398=) | |
| 12 | g.47844905G= | CA2034408976 | VDR | c.1125C= (p.Gly375=) c.*1127C= (n.*1127C=) c.1275C= (p.Gly425=) c.1194C= (p.Gly398=) | |
| 12 | g.47844905G>T | CA6533738 | VDR | c.1125C>A (p.Gly375=) c.*1127C>A (n.*1127C>A) c.1275C>A (p.Gly425=) c.1194C>A (p.Gly398=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844906C>A | CA384514334 | VDR | c.1124G>T (p.Gly375Val) c.*1126G>T (n.*1126G>T) c.1274G>T (p.Gly425Val) c.1193G>T (p.Gly398Val) | |
| 12 | g.47844906C= | CA2034408977 | VDR | c.1124G= (p.Gly375=) c.*1126G= (n.*1126G=) c.1274G= (p.Gly425=) c.1193G= (p.Gly398=) | |
| 12 | g.47844906C>G | CA384514331 | VDR | c.1124G>C (p.Gly375Ala) c.*1126G>C (n.*1126G>C) c.1274G>C (p.Gly425Ala) c.1193G>C (p.Gly398Ala) | |
| 12 | g.47844906C>T | CA384514333 | VDR | c.1124G>A (p.Gly375Asp) c.*1126G>A (n.*1126G>A) c.1274G>A (p.Gly425Asp) c.1193G>A (p.Gly398Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844907C>A | CA384514336 | VDR | c.1123G>T (p.Gly375Cys) c.*1125G>T (n.*1125G>T) c.1273G>T (p.Gly425Cys) c.1192G>T (p.Gly398Cys) | |
| 12 | g.47844907C>G | CA384514338 | VDR | c.1123G>C (p.Gly375Arg) c.*1125G>C (n.*1125G>C) c.1273G>C (p.Gly425Arg) c.1192G>C (p.Gly398Arg) | |
| 12 | g.47844907C>T | CA384514340 | VDR | c.1123G>A (p.Gly375Ser) c.*1125G>A (n.*1125G>A) c.1273G>A (p.Gly425Ser) c.1192G>A (p.Gly398Ser) | |
| 12 | g.47844908C>A | CA6533740 | VDR | c.1122G>T (p.Pro374=) c.*1124G>T (n.*1124G>T) c.1272G>T (p.Pro424=) c.1191G>T (p.Pro397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844908C= | CA2034408978 | VDR | c.1122G= (p.Pro374=) c.*1124G= (n.*1124G=) c.1272G= (p.Pro424=) c.1191G= (p.Pro397=) | |
| 12 | g.47844908C>G | CA479696514 | VDR | c.1122G>C (p.Pro374=) c.*1124G>C (n.*1124G>C) c.1272G>C (p.Pro424=) c.1191G>C (p.Pro397=) | ClinVar |
| 12 | g.47844908C>T | CA6533739 | VDR | c.1122G>A (p.Pro374=) c.*1124G>A (n.*1124G>A) c.1272G>A (p.Pro424=) c.1191G>A (p.Pro397=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844909G>A | CA6533741 | VDR | c.1121C>T (p.Pro374Leu) c.*1123C>T (n.*1123C>T) c.1271C>T (p.Pro424Leu) c.1190C>T (p.Pro397Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844909G>C | CA6533742 | VDR | c.1121C>G (p.Pro374Arg) c.*1123C>G (n.*1123C>G) c.1271C>G (p.Pro424Arg) c.1190C>G (p.Pro397Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844909G= | CA2034408979 | VDR | c.1121C= (p.Pro374=) c.*1123C= (n.*1123C=) c.1271C= (p.Pro424=) c.1190C= (p.Pro397=) | |
| 12 | g.47844909G>T | CA384514344 | VDR | c.1121C>A (p.Pro374Gln) c.*1123C>A (n.*1123C>A) c.1271C>A (p.Pro424Gln) c.1190C>A (p.Pro397Gln) | |
| 12 | g.47844913dup | CA2618497441 | VDR | c.1121dup (p.Ser376GlnfsTer20) c.*1123dup (n.*1123dup) c.1271dup (p.Ser426GlnfsTer20) c.1190dup (p.Ser399GlnfsTer20) | gnomAD v4 |
| 12 | g.47844910G>A | CA384514346 | VDR | c.1120C>T (p.Pro374Ser) c.*1122C>T (n.*1122C>T) c.1270C>T (p.Pro424Ser) c.1189C>T (p.Pro397Ser) | |
| 12 | g.47844910G>C | CA384514348 | VDR | c.1120C>G (p.Pro374Ala) c.*1122C>G (n.*1122C>G) c.1270C>G (p.Pro424Ala) c.1189C>G (p.Pro397Ala) | |
| 12 | g.47844910G>T | CA384514350 | VDR | c.1120C>A (p.Pro374Thr) c.*1122C>A (n.*1122C>A) c.1270C>A (p.Pro424Thr) c.1189C>A (p.Pro397Thr) | |
| 12 | g.47844911G>A | CA479696515 | VDR | c.1119C>T (p.Pro373=) c.*1121C>T (n.*1121C>T) c.1269C>T (p.Pro423=) c.1188C>T (p.Pro396=) | COSMIC COSMIC |
| 12 | g.47844911G>C | CA479696516 | VDR | c.1119C>G (p.Pro373=) c.*1121C>G (n.*1121C>G) c.1269C>G (p.Pro423=) c.1188C>G (p.Pro396=) | |
| 12 | g.47844911G>T | CA479696517 | VDR | c.1119C>A (p.Pro373=) c.*1121C>A (n.*1121C>A) c.1269C>A (p.Pro423=) c.1188C>A (p.Pro396=) | |
| 12 | g.47844912G>A | CA384514352 | VDR | c.1118C>T (p.Pro373Leu) c.*1120C>T (n.*1120C>T) c.1268C>T (p.Pro423Leu) c.1187C>T (p.Pro396Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844912G>C | CA384514354 | VDR | c.1118C>G (p.Pro373Arg) c.*1120C>G (n.*1120C>G) c.1268C>G (p.Pro423Arg) c.1187C>G (p.Pro396Arg) | |
| 12 | g.47844912G= | CA2034408980 | VDR | c.1118C= (p.Pro373=) c.*1120C= (n.*1120C=) c.1268C= (p.Pro423=) c.1187C= (p.Pro396=) | |
| 12 | g.47844912G>T | CA236506150 | VDR | c.1118C>A (p.Pro373His) c.*1120C>A (n.*1120C>A) c.1268C>A (p.Pro423His) c.1187C>A (p.Pro396His) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844913G>A | CA384514357 | VDR | c.1117C>T (p.Pro373Ser) c.*1119C>T (n.*1119C>T) c.1267C>T (p.Pro423Ser) c.1186C>T (p.Pro396Ser) | gnomAD v4 |
| 12 | g.47844913G>C | CA384514361 | VDR | c.1117C>G (p.Pro373Ala) c.*1119C>G (n.*1119C>G) c.1267C>G (p.Pro423Ala) c.1186C>G (p.Pro396Ala) | dbSNP |
| 12 | g.47844913G= | CA2034408981 | VDR | c.1117C= (p.Pro373=) c.*1119C= (n.*1119C=) c.1267C= (p.Pro423=) c.1186C= (p.Pro396=) | |
| 12 | g.47844913G>T | CA384514359 | VDR | c.1117C>A (p.Pro373Thr) c.*1119C>A (n.*1119C>A) c.1267C>A (p.Pro423Thr) c.1186C>A (p.Pro396Thr) | |
| 12 | g.47844914C>A | CA479696518 | VDR | c.1116G>T (p.Pro372=) c.*1118G>T (n.*1118G>T) c.1266G>T (p.Pro422=) c.1185G>T (p.Pro395=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844914C= | CA2034408982 | VDR | c.1116G= (p.Pro372=) c.*1118G= (n.*1118G=) c.1266G= (p.Pro422=) c.1185G= (p.Pro395=) | |
| 12 | g.47844914C>G | CA479696519 | VDR | c.1116G>C (p.Pro372=) c.*1118G>C (n.*1118G>C) c.1266G>C (p.Pro422=) c.1185G>C (p.Pro395=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844914C>T | CA236506155 | VDR | c.1116G>A (p.Pro372=) c.*1118G>A (n.*1118G>A) c.1266G>A (p.Pro422=) c.1185G>A (p.Pro395=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844915G>A | CA6533743 | VDR | c.1115C>T (p.Pro372Leu) c.*1117C>T (n.*1117C>T) c.1265C>T (p.Pro422Leu) c.1184C>T (p.Pro395Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844915G>C | CA384514366 | VDR | c.1115C>G (p.Pro372Arg) c.*1117C>G (n.*1117C>G) c.1265C>G (p.Pro422Arg) c.1184C>G (p.Pro395Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844915G= | CA2034408983 | VDR | c.1115C= (p.Pro372=) c.*1117C= (n.*1117C=) c.1265C= (p.Pro422=) c.1184C= (p.Pro395=) | |
| 12 | g.47844915G>T | CA384514364 | VDR | c.1115C>A (p.Pro372Gln) c.*1117C>A (n.*1117C>A) c.1265C>A (p.Pro422Gln) c.1184C>A (p.Pro395Gln) | |
| 12 | g.47844916G>A | CA384514368 | VDR | c.1114C>T (p.Pro372Ser) c.*1116C>T (n.*1116C>T) c.1264C>T (p.Pro422Ser) c.1183C>T (p.Pro395Ser) | gnomAD v4 |
| 12 | g.47844916G>C | CA384514369 | VDR | c.1114C>G (p.Pro372Ala) c.*1116C>G (n.*1116C>G) c.1264C>G (p.Pro422Ala) c.1183C>G (p.Pro395Ala) | |
| 12 | g.47844916G>T | CA384514371 | VDR | c.1114C>A (p.Pro372Thr) c.*1116C>A (n.*1116C>A) c.1264C>A (p.Pro422Thr) c.1183C>A (p.Pro395Thr) | |
| 12 | g.47844917G>A | CA6533744 | VDR | c.1113C>T (p.His371=) c.*1115C>T (n.*1115C>T) c.1263C>T (p.His421=) c.1182C>T (p.His394=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844917G>C | CA384514374 | VDR | c.1113C>G (p.His371Gln) c.*1115C>G (n.*1115C>G) c.1263C>G (p.His421Gln) c.1182C>G (p.His394Gln) | |
| 12 | g.47844917G= | CA2034408984 | VDR | c.1113C= (p.His371=) c.*1115C= (n.*1115C=) c.1263C= (p.His421=) c.1182C= (p.His394=) | |
| 12 | g.47844917G>T | CA384514376 | VDR | c.1113C>A (p.His371Gln) c.*1115C>A (n.*1115C>A) c.1263C>A (p.His421Gln) c.1182C>A (p.His394Gln) | |
| 12 | g.47844918T>A | CA384514378 | VDR | c.1112A>T (p.His371Leu) c.*1114A>T (n.*1114A>T) c.1262A>T (p.His421Leu) c.1181A>T (p.His394Leu) | |
| 12 | g.47844918T>C | CA384514380 | VDR | c.1112A>G (p.His371Arg) c.*1114A>G (n.*1114A>G) c.1262A>G (p.His421Arg) c.1181A>G (p.His394Arg) | |
| 12 | g.47844918T>G | CA384514382 | VDR | c.1112A>C (p.His371Pro) c.*1114A>C (n.*1114A>C) c.1262A>C (p.His421Pro) c.1181A>C (p.His394Pro) | |
| 12 | g.47844919G>A | CA384514383 | VDR | c.1111C>T (p.His371Tyr) c.*1113C>T (n.*1113C>T) c.1261C>T (p.His421Tyr) c.1180C>T (p.His394Tyr) | |
| 12 | g.47844919G>C | CA384514384 | VDR | c.1111C>G (p.His371Asp) c.*1113C>G (n.*1113C>G) c.1261C>G (p.His421Asp) c.1180C>G (p.His394Asp) | |
| 12 | g.47844919G>T | CA384514386 | VDR | c.1111C>A (p.His371Asn) c.*1113C>A (n.*1113C>A) c.1261C>A (p.His421Asn) c.1180C>A (p.His394Asn) | |
| 12 | g.47844920G>A | CA479696520 | VDR | c.1110C>T (p.Arg370=) c.*1112C>T (n.*1112C>T) c.1260C>T (p.Arg420=) c.1179C>T (p.Arg393=) | |
| 12 | g.47844920G>C | CA479696521 | VDR | c.1110C>G (p.Arg370=) c.*1112C>G (n.*1112C>G) c.1260C>G (p.Arg420=) c.1179C>G (p.Arg393=) | |
| 12 | g.47844920G>T | CA479696522 | VDR | c.1110C>A (p.Arg370=) c.*1112C>A (n.*1112C>A) c.1260C>A (p.Arg420=) c.1179C>A (p.Arg393=) | |
| 12 | g.47844921C>A | CA384514390 | VDR | c.1109G>T (p.Arg370Leu) c.*1111G>T (n.*1111G>T) c.1259G>T (p.Arg420Leu) c.1178G>T (p.Arg393Leu) | |
| 12 | g.47844921C= | CA2034408985 | VDR | c.1109G= (p.Arg370=) c.*1111G= (n.*1111G=) c.1259G= (p.Arg420=) c.1178G= (p.Arg393=) | |
| 12 | g.47844921C>G | CA384514388 | VDR | c.1109G>C (p.Arg370Pro) c.*1111G>C (n.*1111G>C) c.1259G>C (p.Arg420Pro) c.1178G>C (p.Arg393Pro) | |
| 12 | g.47844921C>T | CA6533745 | VDR | c.1109G>A (p.Arg370His) c.*1111G>A (n.*1111G>A) c.1259G>A (p.Arg420His) c.1178G>A (p.Arg393His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844922G>A | CA6533746 | VDR | c.1108C>T (p.Arg370Cys) c.*1110C>T (n.*1110C>T) c.1258C>T (p.Arg420Cys) c.1177C>T (p.Arg393Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844922G>C | CA6533747 | VDR | c.1108C>G (p.Arg370Gly) c.*1110C>G (n.*1110C>G) c.1258C>G (p.Arg420Gly) c.1177C>G (p.Arg393Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844922G= | CA2034408986 | VDR | c.1108C= (p.Arg370=) c.*1110C= (n.*1110C=) c.1258C= (p.Arg420=) c.1177C= (p.Arg393=) | |
| 12 | g.47844922G>T | CA384514393 | VDR | c.1108C>A (p.Arg370Ser) c.*1110C>A (n.*1110C>A) c.1258C>A (p.Arg420Ser) c.1177C>A (p.Arg393Ser) | |
| 12 | g.47844923G>A | CA479696523 | VDR | c.1107C>T (p.Cys369=) c.*1109C>T (n.*1109C>T) c.1257C>T (p.Cys419=) c.1176C>T (p.Cys392=) | |
| 12 | g.47844923G>C | CA384514395 | VDR | c.1107C>G (p.Cys369Trp) c.*1109C>G (n.*1109C>G) c.1257C>G (p.Cys419Trp) c.1176C>G (p.Cys392Trp) | |
| 12 | g.47844923G>T | CA384514397 | VDR | c.1107C>A (p.Cys369Ter) c.*1109C>A (n.*1109C>A) c.1257C>A (p.Cys419Ter) c.1176C>A (p.Cys392Ter) | |
| 12 | g.47844924C>A | CA384514399 | VDR | c.1106G>T (p.Cys369Phe) c.*1108G>T (n.*1108G>T) c.1256G>T (p.Cys419Phe) c.1175G>T (p.Cys392Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844924C= | CA2034408987 | VDR | c.1106G= (p.Cys369=) c.*1108G= (n.*1108G=) c.1256G= (p.Cys419=) c.1175G= (p.Cys392=) | |
| 12 | g.47844924C>G | CA384514401 | VDR | c.1106G>C (p.Cys369Ser) c.*1108G>C (n.*1108G>C) c.1256G>C (p.Cys419Ser) c.1175G>C (p.Cys392Ser) | |
| 12 | g.47844924C>T | CA384514403 | VDR | c.1106G>A (p.Cys369Tyr) c.*1108G>A (n.*1108G>A) c.1256G>A (p.Cys419Tyr) c.1175G>A (p.Cys392Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844925A= | CA2034408988 | VDR | c.1105T= (p.Cys369=) c.*1107T= (n.*1107T=) c.1255T= (p.Cys419=) c.1174T= (p.Cys392=) | |
| 12 | g.47844925A>C | CA6533748 | VDR | c.1105T>G (p.Cys369Gly) c.*1107T>G (n.*1107T>G) c.1255T>G (p.Cys419Gly) c.1174T>G (p.Cys392Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844925A>G | CA384514405 | VDR | c.1105T>C (p.Cys369Arg) c.*1107T>C (n.*1107T>C) c.1255T>C (p.Cys419Arg) c.1174T>C (p.Cys392Arg) | |
| 12 | g.47844925A>T | CA384514407 | VDR | c.1105T>A (p.Cys369Ser) c.*1107T>A (n.*1107T>A) c.1255T>A (p.Cys419Ser) c.1174T>A (p.Cys392Ser) | |
| 12 | g.47844925_47844926delinsCT | CA2499221643 | VDR | c.1104_1105delinsAG (p.Cys369Gly) c.*1106_*1107delinsAG (n.*1106_*1107delinsAG) c.1254_1255delinsAG (p.Cys419Gly) c.1173_1174delinsAG (p.Cys392Gly) | ClinVar |
| 12 | g.47844926G>A | CA479696524 | VDR | c.1104C>T (p.Arg368=) c.*1106C>T (n.*1106C>T) c.1254C>T (p.Arg418=) c.1173C>T (p.Arg391=) | gnomAD v4 |
| 12 | g.47844926G>C | CA236506187 | VDR | c.1104C>G (p.Arg368=) c.*1106C>G (n.*1106C>G) c.1254C>G (p.Arg418=) c.1173C>G (p.Arg391=) | dbSNP |
| 12 | g.47844926G= | CA2034408989 | VDR | c.1104C= (p.Arg368=) c.*1106C= (n.*1106C=) c.1254C= (p.Arg418=) c.1173C= (p.Arg391=) | |
| 12 | g.47844926G>T | CA6533749 | VDR | c.1104C>A (p.Arg368=) c.*1106C>A (n.*1106C>A) c.1254C>A (p.Arg418=) c.1173C>A (p.Arg391=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844927C>A | CA6533750 | VDR | c.1103G>T (p.Arg368Leu) c.*1105G>T (n.*1105G>T) c.1253G>T (p.Arg418Leu) c.1172G>T (p.Arg391Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844927C= | CA2034408990 | VDR | c.1103G= (p.Arg368=) c.*1105G= (n.*1105G=) c.1253G= (p.Arg418=) c.1172G= (p.Arg391=) | |
| 12 | g.47844927C>G | CA384514412 | VDR | c.1103G>C (p.Arg368Pro) c.*1105G>C (n.*1105G>C) c.1253G>C (p.Arg418Pro) c.1172G>C (p.Arg391Pro) | |
| 12 | g.47844927C>T | CA384514414 | VDR | c.1103G>A (p.Arg368His) c.*1105G>A (n.*1105G>A) c.1253G>A (p.Arg418His) c.1172G>A (p.Arg391His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844928G>A | CA6533751 | VDR | c.1102C>T (p.Arg368Cys) c.*1104C>T (n.*1104C>T) c.1252C>T (p.Arg418Cys) c.1171C>T (p.Arg391Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844928G>C | CA236506205 | VDR | c.1102C>G (p.Arg368Gly) c.*1104C>G (n.*1104C>G) c.1252C>G (p.Arg418Gly) c.1171C>G (p.Arg391Gly) | dbSNP gnomAD v4 |
| 12 | g.47844928G= | CA2034408991 | VDR | c.1102C= (p.Arg368=) c.*1104C= (n.*1104C=) c.1252C= (p.Arg418=) c.1171C= (p.Arg391=) | |
| 12 | g.47844928G>T | CA384514418 | VDR | c.1102C>A (p.Arg368Ser) c.*1104C>A (n.*1104C>A) c.1252C>A (p.Arg418Ser) c.1171C>A (p.Arg391Ser) | |
| 12 | g.47844929G>A | CA479696525 | VDR | c.1101C>T (p.Ile367=) c.*1103C>T (n.*1103C>T) c.1251C>T (p.Ile417=) c.1170C>T (p.Ile390=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844929G>C | CA236506215 | VDR | c.1101C>G (p.Ile367Met) c.*1103C>G (n.*1103C>G) c.1251C>G (p.Ile417Met) c.1170C>G (p.Ile390Met) | dbSNP |
| 12 | g.47844929G= | CA2034408992 | VDR | c.1101C= (p.Ile367=) c.*1103C= (n.*1103C=) c.1251C= (p.Ile417=) c.1170C= (p.Ile390=) | |
| 12 | g.47844929G>T | CA479696526 | VDR | c.1101C>A (p.Ile367=) c.*1103C>A (n.*1103C>A) c.1251C>A (p.Ile417=) c.1170C>A (p.Ile390=) | |
| 12 | g.47844930A>C | CA384514421 | VDR | c.1100T>G (p.Ile367Ser) c.*1102T>G (n.*1102T>G) c.1250T>G (p.Ile417Ser) c.1169T>G (p.Ile390Ser) | |
| 12 | g.47844930A>G | CA384514423 | VDR | c.1100T>C (p.Ile367Thr) c.*1102T>C (n.*1102T>C) c.1250T>C (p.Ile417Thr) c.1169T>C (p.Ile390Thr) | |
| 12 | g.47844930A>T | CA384514425 | VDR | c.1100T>A (p.Ile367Asn) c.*1102T>A (n.*1102T>A) c.1250T>A (p.Ile417Asn) c.1169T>A (p.Ile390Asn) | |
| 12 | g.47844931T>A | CA384514427 | VDR | c.1099A>T (p.Ile367Phe) c.*1101A>T (n.*1101A>T) c.1249A>T (p.Ile417Phe) c.1168A>T (p.Ile390Phe) | |
| 12 | g.47844931T>C | CA384514428 | VDR | c.1099A>G (p.Ile367Val) c.*1101A>G (n.*1101A>G) c.1249A>G (p.Ile417Val) c.1168A>G (p.Ile390Val) | |
| 12 | g.47844931T>G | CA384514430 | VDR | c.1099A>C (p.Ile367Leu) c.*1101A>C (n.*1101A>C) c.1249A>C (p.Ile417Leu) c.1168A>C (p.Ile390Leu) | |
| 12 | g.47844932G>A | CA6533752 | VDR | c.1098C>T (p.Tyr366=) c.*1100C>T (n.*1100C>T) c.1248C>T (p.Tyr416=) c.1167C>T (p.Tyr389=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844932G>C | CA384514434 | VDR | c.1098C>G (p.Tyr366Ter) c.*1100C>G (n.*1100C>G) c.1248C>G (p.Tyr416Ter) c.1167C>G (p.Tyr389Ter) | |
| 12 | g.47844932G= | CA2034408993 | VDR | c.1098C= (p.Tyr366=) c.*1100C= (n.*1100C=) c.1248C= (p.Tyr416=) c.1167C= (p.Tyr389=) | |
| 12 | g.47844932G>T | CA384514432 | VDR | c.1098C>A (p.Tyr366Ter) c.*1100C>A (n.*1100C>A) c.1248C>A (p.Tyr416Ter) c.1167C>A (p.Tyr389Ter) | |
| 12 | g.47844933T>A | CA384514436 | VDR | c.1097A>T (p.Tyr366Phe) c.*1099A>T (n.*1099A>T) c.1247A>T (p.Tyr416Phe) c.1166A>T (p.Tyr389Phe) | |
| 12 | g.47844933T>C | CA384514438 | VDR | c.1097A>G (p.Tyr366Cys) c.*1099A>G (n.*1099A>G) c.1247A>G (p.Tyr416Cys) c.1166A>G (p.Tyr389Cys) | |
| 12 | g.47844933T>G | CA384514440 | VDR | c.1097A>C (p.Tyr366Ser) c.*1099A>C (n.*1099A>C) c.1247A>C (p.Tyr416Ser) c.1166A>C (p.Tyr389Ser) | |
| 12 | g.47844934A>C | CA384514442 | VDR | c.1096T>G (p.Tyr366Asp) c.*1098T>G (n.*1098T>G) c.1246T>G (p.Tyr416Asp) c.1165T>G (p.Tyr389Asp) | |
| 12 | g.47844934A>G | CA384514444 | VDR | c.1096T>C (p.Tyr366His) c.*1098T>C (n.*1098T>C) c.1246T>C (p.Tyr416His) c.1165T>C (p.Tyr389His) | |
| 12 | g.47844934A>T | CA384514446 | VDR | c.1096T>A (p.Tyr366Asn) c.*1098T>A (n.*1098T>A) c.1246T>A (p.Tyr416Asn) c.1165T>A (p.Tyr389Asn) | |
| 12 | g.47844935C>A | CA479696527 | VDR | c.1095G>T (p.Thr365=) c.*1097G>T (n.*1097G>T) c.1245G>T (p.Thr415=) c.1164G>T (p.Thr388=) | gnomAD v4 |
| 12 | g.47844935C= | CA2034408994 | VDR | c.1095G= (p.Thr365=) c.*1097G= (n.*1097G=) c.1245G= (p.Thr415=) c.1164G= (p.Thr388=) | |
| 12 | g.47844935C>G | CA479696528 | VDR | c.1095G>C (p.Thr365=) c.*1097G>C (n.*1097G>C) c.1245G>C (p.Thr415=) c.1164G>C (p.Thr388=) | |
| 12 | g.47844935C>T | CA6533753 | VDR | c.1095G>A (p.Thr365=) c.*1097G>A (n.*1097G>A) c.1245G>A (p.Thr415=) c.1164G>A (p.Thr388=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844936G>A | CA6533754 | VDR | c.1094C>T (p.Thr365Met) c.*1096C>T (n.*1096C>T) c.1244C>T (p.Thr415Met) c.1163C>T (p.Thr388Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844936G>C | CA384514450 | VDR | c.1094C>G (p.Thr365Arg) c.*1096C>G (n.*1096C>G) c.1244C>G (p.Thr415Arg) c.1163C>G (p.Thr388Arg) | |
| 12 | g.47844936G= | CA2034408995 | VDR | c.1094C= (p.Thr365=) c.*1096C= (n.*1096C=) c.1244C= (p.Thr415=) c.1163C= (p.Thr388=) | |
| 12 | g.47844936G>T | CA384514451 | VDR | c.1094C>A (p.Thr365Lys) c.*1096C>A (n.*1096C>A) c.1244C>A (p.Thr415Lys) c.1163C>A (p.Thr388Lys) | |
| 12 | g.47844937T>A | CA384514457 | VDR | c.1093A>T (p.Thr365Ser) c.*1095A>T (n.*1095A>T) c.1243A>T (p.Thr415Ser) c.1162A>T (p.Thr388Ser) | |
| 12 | g.47844937T>C | CA384514455 | VDR | c.1093A>G (p.Thr365Ala) c.*1095A>G (n.*1095A>G) c.1243A>G (p.Thr415Ala) c.1162A>G (p.Thr388Ala) | |
| 12 | g.47844937T>G | CA384514453 | VDR | c.1093A>C (p.Thr365Pro) c.*1095A>C (n.*1095A>C) c.1243A>C (p.Thr415Pro) c.1162A>C (p.Thr388Pro) | |
| 12 | g.47844938C>A | CA384514459 | VDR | c.1092G>T (p.Gln364His) c.*1094G>T (n.*1094G>T) c.1242G>T (p.Gln414His) c.1161G>T (p.Gln387His) | |
| 12 | g.47844938C>G | CA384514461 | VDR | c.1092G>C (p.Gln364His) c.*1094G>C (n.*1094G>C) c.1242G>C (p.Gln414His) c.1161G>C (p.Gln387His) | |
| 12 | g.47844938C>T | CA479696529 | VDR | c.1092G>A (p.Gln364=) c.*1094G>A (n.*1094G>A) c.1242G>A (p.Gln414=) c.1161G>A (p.Gln387=) | gnomAD v4 |
| 12 | g.47844939T>A | CA384514463 | VDR | c.1091A>T (p.Gln364Leu) c.*1093A>T (n.*1093A>T) c.1241A>T (p.Gln414Leu) c.1160A>T (p.Gln387Leu) | |
| 12 | g.47844939T>C | CA384514465 | VDR | c.1091A>G (p.Gln364Arg) c.*1093A>G (n.*1093A>G) c.1241A>G (p.Gln414Arg) c.1160A>G (p.Gln387Arg) | gnomAD v4 |
| 12 | g.47844939T>G | CA384514466 | VDR | c.1091A>C (p.Gln364Pro) c.*1093A>C (n.*1093A>C) c.1241A>C (p.Gln414Pro) c.1160A>C (p.Gln387Pro) | |
| 12 | g.47844940G>A | CA6533755 | VDR | c.1090C>T (p.Gln364Ter) c.*1092C>T (n.*1092C>T) c.1240C>T (p.Gln414Ter) c.1159C>T (p.Gln387Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844940G>C | CA384514469 | VDR | c.1090C>G (p.Gln364Glu) c.*1092C>G (n.*1092C>G) c.1240C>G (p.Gln414Glu) c.1159C>G (p.Gln387Glu) | |
| 12 | g.47844940G= | CA2034408996 | VDR | c.1090C= (p.Gln364=) c.*1092C= (n.*1092C=) c.1240C= (p.Gln414=) c.1159C= (p.Gln387=) | |
| 12 | g.47844940G>T | CA384514471 | VDR | c.1090C>A (p.Gln364Lys) c.*1092C>A (n.*1092C>A) c.1240C>A (p.Gln414Lys) c.1159C>A (p.Gln387Lys) | |
| 12 | g.47844941C>A | CA479696530 | VDR | c.1089G>T (p.Leu363=) c.*1091G>T (n.*1091G>T) c.1239G>T (p.Leu413=) c.1158G>T (p.Leu386=) | |
| 12 | g.47844941C>G | CA479696531 | VDR | c.1089G>C (p.Leu363=) c.*1091G>C (n.*1091G>C) c.1239G>C (p.Leu413=) c.1158G>C (p.Leu386=) | |
| 12 | g.47844941C>T | CA479696532 | VDR | c.1089G>A (p.Leu363=) c.*1091G>A (n.*1091G>A) c.1239G>A (p.Leu413=) c.1158G>A (p.Leu386=) | |
| 12 | g.47844942A>C | CA384514473 | VDR | c.1088T>G (p.Leu363Arg) c.*1090T>G (n.*1090T>G) c.1238T>G (p.Leu413Arg) c.1157T>G (p.Leu386Arg) | |
| 12 | g.47844942A>G | CA384514474 | VDR | c.1088T>C (p.Leu363Pro) c.*1090T>C (n.*1090T>C) c.1238T>C (p.Leu413Pro) c.1157T>C (p.Leu386Pro) | ClinVar |
| 12 | g.47844942A>T | CA384514476 | VDR | c.1088T>A (p.Leu363Gln) c.*1090T>A (n.*1090T>A) c.1238T>A (p.Leu413Gln) c.1157T>A (p.Leu386Gln) | |
| 12 | g.47844943G>A | CA479696533 | VDR | c.1087C>T (p.Leu363=) c.*1089C>T (n.*1089C>T) c.1237C>T (p.Leu413=) c.1156C>T (p.Leu386=) | |
| 12 | g.47844943G>C | CA384514477 | VDR | c.1087C>G (p.Leu363Val) c.*1089C>G (n.*1089C>G) c.1237C>G (p.Leu413Val) c.1156C>G (p.Leu386Val) | |
| 12 | g.47844943G= | CA2034408997 | VDR | c.1087C= (p.Leu363=) c.*1089C= (n.*1089C=) c.1237C= (p.Leu413=) c.1156C= (p.Leu386=) | |
| 12 | g.47844943G>T | CA384514479 | VDR | c.1087C>A (p.Leu363Met) c.*1089C>A (n.*1089C>A) c.1237C>A (p.Leu413Met) c.1156C>A (p.Leu386Met) | dbSNP |
| 12 | g.47844944T>A | CA479696534 | VDR | c.1086A>T (p.Thr362=) c.*1088A>T (n.*1088A>T) c.1236A>T (p.Thr412=) c.1155A>T (p.Thr385=) | |
| 12 | g.47844944T>C | CA479696535 | VDR | c.1086A>G (p.Thr362=) c.*1088A>G (n.*1088A>G) c.1236A>G (p.Thr412=) c.1155A>G (p.Thr385=) | |
| 12 | g.47844944T>G | CA479696536 | VDR | c.1086A>C (p.Thr362=) c.*1088A>C (n.*1088A>C) c.1236A>C (p.Thr412=) c.1155A>C (p.Thr385=) | gnomAD v4 |
| 12 | g.47844945G>A | CA6533756 | VDR | c.1085C>T (p.Thr362Ile) c.*1087C>T (n.*1087C>T) c.1235C>T (p.Thr412Ile) c.1154C>T (p.Thr385Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844945G>C | CA384514483 | VDR | c.1085C>G (p.Thr362Arg) c.*1087C>G (n.*1087C>G) c.1235C>G (p.Thr412Arg) c.1154C>G (p.Thr385Arg) | |
| 12 | g.47844945G= | CA2034408998 | VDR | c.1085C= (p.Thr362=) c.*1087C= (n.*1087C=) c.1235C= (p.Thr412=) c.1154C= (p.Thr385=) | |
| 12 | g.47844945G>T | CA384514482 | VDR | c.1085C>A (p.Thr362Lys) c.*1087C>A (n.*1087C>A) c.1235C>A (p.Thr412Lys) c.1154C>A (p.Thr385Lys) | |
| 12 | g.47844946T>A | CA384514485 | VDR | c.1084A>T (p.Thr362Ser) c.*1086A>T (n.*1086A>T) c.1234A>T (p.Thr412Ser) c.1153A>T (p.Thr385Ser) | |
| 12 | g.47844946T>C | CA384514487 | VDR | c.1084A>G (p.Thr362Ala) c.*1086A>G (n.*1086A>G) c.1234A>G (p.Thr412Ala) c.1153A>G (p.Thr385Ala) | |
| 12 | g.47844946T>G | CA384514488 | VDR | c.1084A>C (p.Thr362Pro) c.*1086A>C (n.*1086A>C) c.1234A>C (p.Thr412Pro) c.1153A>C (p.Thr385Pro) | |
| 12 | g.47844947G>A | CA479696537 | VDR | c.1083C>T (p.Asn361=) c.*1085C>T (n.*1085C>T) c.1233C>T (p.Asn411=) c.1152C>T (p.Asn384=) | |
| 12 | g.47844947G>C | CA384514489 | VDR | c.1083C>G (p.Asn361Lys) c.*1085C>G (n.*1085C>G) c.1233C>G (p.Asn411Lys) c.1152C>G (p.Asn384Lys) | |
| 12 | g.47844947G>T | CA384514490 | VDR | c.1083C>A (p.Asn361Lys) c.*1085C>A (n.*1085C>A) c.1233C>A (p.Asn411Lys) c.1152C>A (p.Asn384Lys) | |
| 12 | g.47844948T>A | CA384514493 | VDR | c.1082A>T (p.Asn361Ile) c.*1084A>T (n.*1084A>T) c.1232A>T (p.Asn411Ile) c.1151A>T (p.Asn384Ile) | |
| 12 | g.47844948T>C | CA6533757 | VDR | c.1082A>G (p.Asn361Ser) c.*1084A>G (n.*1084A>G) c.1232A>G (p.Asn411Ser) c.1151A>G (p.Asn384Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844948T>G | CA384514495 | VDR | c.1082A>C (p.Asn361Thr) c.*1084A>C (n.*1084A>C) c.1232A>C (p.Asn411Thr) c.1151A>C (p.Asn384Thr) | |
| 12 | g.47844948T= | CA2034408999 | VDR | c.1082A= (p.Asn361=) c.*1084A= (n.*1084A=) c.1232A= (p.Asn411=) c.1151A= (p.Asn384=) | |
| 12 | g.47844949T>A | CA384514497 | VDR | c.1081A>T (p.Asn361Tyr) c.*1083A>T (n.*1083A>T) c.1231A>T (p.Asn411Tyr) c.1150A>T (p.Asn384Tyr) | |
| 12 | g.47844949T>C | CA384514499 | VDR | c.1081A>G (p.Asn361Asp) c.*1083A>G (n.*1083A>G) c.1231A>G (p.Asn411Asp) c.1150A>G (p.Asn384Asp) | gnomAD v4 |
| 12 | g.47844949T>G | CA384514501 | VDR | c.1081A>C (p.Asn361His) c.*1083A>C (n.*1083A>C) c.1231A>C (p.Asn411His) c.1150A>C (p.Asn384His) | |
| 12 | g.47844950G>A | CA479696538 | VDR | c.1080C>T (p.Ser360=) c.*1082C>T (n.*1082C>T) c.1230C>T (p.Ser410=) c.1149C>T (p.Ser383=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844950G>C | CA479696539 | VDR | c.1080C>G (p.Ser360=) c.*1082C>G (n.*1082C>G) c.1230C>G (p.Ser410=) c.1149C>G (p.Ser383=) | |
| 12 | g.47844950G= | CA2034409000 | VDR | c.1080C= (p.Ser360=) c.*1082C= (n.*1082C=) c.1230C= (p.Ser410=) c.1149C= (p.Ser383=) | |
| 12 | g.47844950G>T | CA479696540 | VDR | c.1080C>A (p.Ser360=) c.*1082C>A (n.*1082C>A) c.1230C>A (p.Ser410=) c.1149C>A (p.Ser383=) | |
| 12 | g.47844951G>A | CA384514503 | VDR | c.1079C>T (p.Ser360Phe) c.*1081C>T (n.*1081C>T) c.1229C>T (p.Ser410Phe) c.1148C>T (p.Ser383Phe) | |
| 12 | g.47844951G>C | CA384514505 | VDR | c.1079C>G (p.Ser360Cys) c.*1081C>G (n.*1081C>G) c.1229C>G (p.Ser410Cys) c.1148C>G (p.Ser383Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844951G= | CA2034409001 | VDR | c.1079C= (p.Ser360=) c.*1081C= (n.*1081C=) c.1229C= (p.Ser410=) c.1148C= (p.Ser383=) | |
| 12 | g.47844951G>T | CA384514506 | VDR | c.1079C>A (p.Ser360Tyr) c.*1081C>A (n.*1081C>A) c.1229C>A (p.Ser410Tyr) c.1148C>A (p.Ser383Tyr) | |
| 12 | g.47844952A>C | CA384514510 | VDR | c.1078T>G (p.Ser360Ala) c.*1080T>G (n.*1080T>G) c.1228T>G (p.Ser410Ala) c.1147T>G (p.Ser383Ala) | |
| 12 | g.47844952A>G | CA384514512 | VDR | c.1078T>C (p.Ser360Pro) c.*1080T>C (n.*1080T>C) c.1228T>C (p.Ser410Pro) c.1147T>C (p.Ser383Pro) | |
| 12 | g.47844952A>T | CA384514509 | VDR | c.1078T>A (p.Ser360Thr) c.*1080T>A (n.*1080T>A) c.1228T>A (p.Ser410Thr) c.1147T>A (p.Ser383Thr) | |
| 12 | g.47844953C>A | CA479696541 | VDR | c.1077G>T (p.Leu359=) c.*1079G>T (n.*1079G>T) c.1227G>T (p.Leu409=) c.1146G>T (p.Leu382=) | |
| 12 | g.47844953C= | CA2034409002 | VDR | c.1077G= (p.Leu359=) c.*1079G= (n.*1079G=) c.1227G= (p.Leu409=) c.1146G= (p.Leu382=) | |
| 12 | g.47844953C>G | CA479696542 | VDR | c.1077G>C (p.Leu359=) c.*1079G>C (n.*1079G>C) c.1227G>C (p.Leu409=) c.1146G>C (p.Leu382=) | |
| 12 | g.47844953C>T | CA479696543 | VDR | c.1077G>A (p.Leu359=) c.*1079G>A (n.*1079G>A) c.1227G>A (p.Leu409=) c.1146G>A (p.Leu382=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844954A= | CA2034409003 | VDR | c.1076T= (p.Leu359=) c.*1078T= (n.*1078T=) c.1226T= (p.Leu409=) c.1145T= (p.Leu382=) | |
| 12 | g.47844954A>C | CA384514513 | VDR | c.1076T>G (p.Leu359Arg) c.*1078T>G (n.*1078T>G) c.1226T>G (p.Leu409Arg) c.1145T>G (p.Leu382Arg) | |
| 12 | g.47844954A>G | CA384514515 | VDR | c.1076T>C (p.Leu359Pro) c.*1078T>C (n.*1078T>C) c.1226T>C (p.Leu409Pro) c.1145T>C (p.Leu382Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844954A>T | CA384514517 | VDR | c.1076T>A (p.Leu359Gln) c.*1078T>A (n.*1078T>A) c.1226T>A (p.Leu409Gln) c.1145T>A (p.Leu382Gln) | |
| 12 | g.47844955G>A | CA479696544 | VDR | c.1075C>T (p.Leu359=) c.*1077C>T (n.*1077C>T) c.1225C>T (p.Leu409=) c.1144C>T (p.Leu382=) | |
| 12 | g.47844955G>C | CA384514519 | VDR | c.1075C>G (p.Leu359Val) c.*1077C>G (n.*1077C>G) c.1225C>G (p.Leu409Val) c.1144C>G (p.Leu382Val) | |
| 12 | g.47844955G>T | CA384514521 | VDR | c.1075C>A (p.Leu359Met) c.*1077C>A (n.*1077C>A) c.1225C>A (p.Leu409Met) c.1144C>A (p.Leu382Met) | gnomAD v4 |
| 12 | g.47844956G>A | CA479696545 | VDR | c.1074C>T (p.Arg358=) c.*1076C>T (n.*1076C>T) c.1224C>T (p.Arg408=) c.1143C>T (p.Arg381=) | |
| 12 | g.47844956G>C | CA479696546 | VDR | c.1074C>G (p.Arg358=) c.*1076C>G (n.*1076C>G) c.1224C>G (p.Arg408=) c.1143C>G (p.Arg381=) | |
| 12 | g.47844956G>T | CA479696547 | VDR | c.1074C>A (p.Arg358=) c.*1076C>A (n.*1076C>A) c.1224C>A (p.Arg408=) c.1143C>A (p.Arg381=) | |
| 12 | g.47844957C>A | CA236506275 | VDR | c.1073G>T (p.Arg358Leu) c.*1075G>T (n.*1075G>T) c.1223G>T (p.Arg408Leu) c.1142G>T (p.Arg381Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844957C= | CA2034409004 | VDR | c.1073G= (p.Arg358=) c.*1075G= (n.*1075G=) c.1223G= (p.Arg408=) c.1142G= (p.Arg381=) | |
| 12 | g.47844957C>G | CA384514524 | VDR | c.1073G>C (p.Arg358Pro) c.*1075G>C (n.*1075G>C) c.1223G>C (p.Arg408Pro) c.1142G>C (p.Arg381Pro) | gnomAD v4 |
| 12 | g.47844957C>T | CA6533758 | VDR | c.1073G>A (p.Arg358His) c.*1075G>A (n.*1075G>A) c.1223G>A (p.Arg408His) c.1142G>A (p.Arg381His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844958G>A | CA6533759 | VDR | c.1072C>T (p.Arg358Cys) c.*1074C>T (n.*1074C>T) c.1222C>T (p.Arg408Cys) c.1141C>T (p.Arg381Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.47844958G>C | CA384514527 | VDR | c.1072C>G (p.Arg358Gly) c.*1074C>G (n.*1074C>G) c.1222C>G (p.Arg408Gly) c.1141C>G (p.Arg381Gly) | |
| 12 | g.47844958G= | CA2034409005 | VDR | c.1072C= (p.Arg358=) c.*1074C= (n.*1074C=) c.1222C= (p.Arg408=) c.1141C= (p.Arg381=) | |
| 12 | g.47844958G>T | CA384514529 | VDR | c.1072C>A (p.Arg358Ser) c.*1074C>A (n.*1074C>A) c.1222C>A (p.Arg408Ser) c.1141C>A (p.Arg381Ser) | |
| 12 | g.47844959G>A | CA479696548 | VDR | c.1071C>T (p.Asp357=) c.*1073C>T (n.*1073C>T) c.1221C>T (p.Asp407=) c.1140C>T (p.Asp380=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844959G>C | CA384514531 | VDR | c.1071C>G (p.Asp357Glu) c.*1073C>G (n.*1073C>G) c.1221C>G (p.Asp407Glu) c.1140C>G (p.Asp380Glu) | |
| 12 | g.47844959G= | CA2034409006 | VDR | c.1071C= (p.Asp357=) c.*1073C= (n.*1073C=) c.1221C= (p.Asp407=) c.1140C= (p.Asp380=) | |
| 12 | g.47844959G>T | CA384514533 | VDR | c.1071C>A (p.Asp357Glu) c.*1073C>A (n.*1073C>A) c.1221C>A (p.Asp407Glu) c.1140C>A (p.Asp380Glu) | |
| 12 | g.47844960T>A | CA384514535 | VDR | c.1070A>T (p.Asp357Val) c.*1072A>T (n.*1072A>T) c.1220A>T (p.Asp407Val) c.1139A>T (p.Asp380Val) | |
| 12 | g.47844960T>C | CA384514538 | VDR | c.1070A>G (p.Asp357Gly) c.*1072A>G (n.*1072A>G) c.1220A>G (p.Asp407Gly) c.1139A>G (p.Asp380Gly) | |
| 12 | g.47844960T>G | CA384514536 | VDR | c.1070A>C (p.Asp357Ala) c.*1072A>C (n.*1072A>C) c.1220A>C (p.Asp407Ala) c.1139A>C (p.Asp380Ala) |