| 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.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) |