Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.47844080_47844853del | CA2697559199 | VDR | c.1181_*469del (n.[c.1181_*469del;Asn394ThrfsTer?]) c.1181_*670del (n.[c.1181_*670del;Asn394ThrfsTer?]) c.1331_*670del (n.[c.1331_*670del;Asn444ThrfsTer?]) | ClinVar |
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.47844836G>A | CA479696476 | VDR | c.1194C>T (p.Ser398=) c.*1196C>T (n.*1196C>T) c.1344C>T (p.Ser448=) c.1263C>T (p.Ser421=) | gnomAD v4 |
12 | g.47844836G>C | CA479696477 | VDR | c.1194C>G (p.Ser398=) c.*1196C>G (n.*1196C>G) c.1344C>G (p.Ser448=) c.1263C>G (p.Ser421=) | |
12 | g.47844836G>T | CA479696478 | VDR | c.1194C>A (p.Ser398=) c.*1196C>A (n.*1196C>A) c.1344C>A (p.Ser448=) c.1263C>A (p.Ser421=) | |
12 | g.47844837G>A | CA384514027 | VDR | c.1193C>T (p.Ser398Phe) c.*1195C>T (n.*1195C>T) c.1343C>T (p.Ser448Phe) c.1262C>T (p.Ser421Phe) | |
12 | g.47844837G>C | CA384514029 | VDR | c.1193C>G (p.Ser398Cys) c.*1195C>G (n.*1195C>G) c.1343C>G (p.Ser448Cys) c.1262C>G (p.Ser421Cys) | |
12 | g.47844837G>T | CA384514031 | VDR | c.1193C>A (p.Ser398Tyr) c.*1195C>A (n.*1195C>A) c.1343C>A (p.Ser448Tyr) c.1262C>A (p.Ser421Tyr) | |
12 | g.47844838A>C | CA384514043 | VDR | c.1192T>G (p.Ser398Ala) c.*1194T>G (n.*1194T>G) c.1342T>G (p.Ser448Ala) c.1261T>G (p.Ser421Ala) | |
12 | g.47844838A>G | CA384514040 | VDR | c.1192T>C (p.Ser398Pro) c.*1194T>C (n.*1194T>C) c.1342T>C (p.Ser448Pro) c.1261T>C (p.Ser421Pro) | |
12 | g.47844838A>T | CA384514038 | VDR | c.1192T>A (p.Ser398Thr) c.*1194T>A (n.*1194T>A) c.1342T>A (p.Ser448Thr) c.1261T>A (p.Ser421Thr) | |
12 | g.47844839G>A | CA6533728 | VDR | c.1191C>T (p.His397=) c.*1193C>T (n.*1193C>T) c.1341C>T (p.His447=) c.1260C>T (p.His420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844839G>C | CA384514048 | VDR | c.1191C>G (p.His397Gln) c.*1193C>G (n.*1193C>G) c.1341C>G (p.His447Gln) c.1260C>G (p.His420Gln) | gnomAD v4 |
12 | g.47844839G= | CA2034408952 | VDR | c.1191C= (p.His397=) c.*1193C= (n.*1193C=) c.1341C= (p.His447=) c.1260C= (p.His420=) | |
12 | g.47844839G>T | CA384514050 | VDR | c.1191C>A (p.His397Gln) c.*1193C>A (n.*1193C>A) c.1341C>A (p.His447Gln) c.1260C>A (p.His420Gln) | dbSNP |
12 | g.47844840T>A | CA384514052 | VDR | c.1190A>T (p.His397Leu) c.*1192A>T (n.*1192A>T) c.1340A>T (p.His447Leu) c.1259A>T (p.His420Leu) | |
12 | g.47844840T>C | CA384514054 | VDR | c.1190A>G (p.His397Arg) c.*1192A>G (n.*1192A>G) c.1340A>G (p.His447Arg) c.1259A>G (p.His420Arg) | |
12 | g.47844840T>G | CA10588004 | VDR | c.1190A>C (p.His397Pro) c.*1192A>C (n.*1192A>C) c.1340A>C (p.His447Pro) c.1259A>C (p.His420Pro) | ClinVar dbSNP |
12 | g.47844840T= | CA2034408953 | VDR | c.1190A= (p.His397=) c.*1192A= (n.*1192A=) c.1340A= (p.His447=) c.1259A= (p.His420=) | |
12 | g.47844841G>A | CA384514069 | VDR | c.1189C>T (p.His397Tyr) c.*1191C>T (n.*1191C>T) c.1339C>T (p.His447Tyr) c.1258C>T (p.His420Tyr) | |
12 | g.47844841G>C | CA384514072 | VDR | c.1189C>G (p.His397Asp) c.*1191C>G (n.*1191C>G) c.1339C>G (p.His447Asp) c.1258C>G (p.His420Asp) | |
12 | g.47844841G>T | CA384514075 | VDR | c.1189C>A (p.His397Asn) c.*1191C>A (n.*1191C>A) c.1339C>A (p.His447Asn) c.1258C>A (p.His420Asn) | |
12 | g.47844841dup | CA2841501069 | VDR | c.1189dup (p.His397ProfsTer13) c.*1191dup (n.*1191dup) c.1339dup (p.His447ProfsTer13) c.1258dup (p.His420ProfsTer13) | |
12 | g.47844842C>A | CA384514077 | VDR | c.1188G>T (p.Glu396Asp) c.*1190G>T (n.*1190G>T) c.1338G>T (p.Glu446Asp) c.1257G>T (p.Glu419Asp) | |
12 | g.47844842C>G | CA384514078 | VDR | c.1188G>C (p.Glu396Asp) c.*1190G>C (n.*1190G>C) c.1338G>C (p.Glu446Asp) c.1257G>C (p.Glu419Asp) | |
12 | g.47844842C>T | CA479696479 | VDR | c.1188G>A (p.Glu396=) c.*1190G>A (n.*1190G>A) c.1338G>A (p.Glu446=) c.1257G>A (p.Glu419=) | |
12 | g.47844842dup | CA2841501070 | VDR | c.1188dup (p.His397AlafsTer13) c.*1190dup (n.*1190dup) c.1338dup (p.His447AlafsTer13) c.1257dup (p.His420AlafsTer13) | |
12 | g.47844843T>A | CA384514080 | VDR | c.1187A>T (p.Glu396Val) c.*1189A>T (n.*1189A>T) c.1337A>T (p.Glu446Val) c.1256A>T (p.Glu419Val) | |
12 | g.47844843T>C | CA384514081 | VDR | c.1187A>G (p.Glu396Gly) c.*1189A>G (n.*1189A>G) c.1337A>G (p.Glu446Gly) c.1256A>G (p.Glu419Gly) | |
12 | g.47844843T>G | CA384514082 | VDR | c.1187A>C (p.Glu396Ala) c.*1189A>C (n.*1189A>C) c.1337A>C (p.Glu446Ala) c.1256A>C (p.Glu419Ala) | |
12 | g.47844844C>A | CA384514084 | VDR | c.1186G>T (p.Glu396Ter) c.*1188G>T (n.*1188G>T) c.1336G>T (p.Glu446Ter) c.1255G>T (p.Glu419Ter) | |
12 | g.47844844C>G | CA384514085 | VDR | c.1186G>C (p.Glu396Gln) c.*1188G>C (n.*1188G>C) c.1336G>C (p.Glu446Gln) c.1255G>C (p.Glu419Gln) | |
12 | g.47844844C>T | CA384514083 | VDR | c.1186G>A (p.Glu396Lys) c.*1188G>A (n.*1188G>A) c.1336G>A (p.Glu446Lys) c.1255G>A (p.Glu419Lys) | ClinVar gnomAD v4 |
12 | g.47844845C>A | CA384514086 | VDR | c.1185G>T (p.Glu395Asp) c.*1187G>T (n.*1187G>T) c.1335G>T (p.Glu445Asp) c.1254G>T (p.Glu418Asp) | |
12 | g.47844845C= | CA2034408954 | VDR | c.1185G= (p.Glu395=) c.*1187G= (n.*1187G=) c.1335G= (p.Glu445=) c.1254G= (p.Glu418=) | |
12 | g.47844845C>G | CA384514088 | VDR | c.1185G>C (p.Glu395Asp) c.*1187G>C (n.*1187G>C) c.1335G>C (p.Glu445Asp) c.1254G>C (p.Glu418Asp) | |
12 | g.47844845C>T | CA6533729 | VDR | c.1185G>A (p.Glu395=) c.*1187G>A (n.*1187G>A) c.1335G>A (p.Glu445=) c.1254G>A (p.Glu418=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.47844846T>A | CA384514090 | VDR | c.1184A>T (p.Glu395Val) c.*1186A>T (n.*1186A>T) c.1334A>T (p.Glu445Val) c.1253A>T (p.Glu418Val) | gnomAD v4 |
12 | g.47844846T>C | CA384514092 | VDR | c.1184A>G (p.Glu395Gly) c.*1186A>G (n.*1186A>G) c.1334A>G (p.Glu445Gly) c.1253A>G (p.Glu418Gly) | |
12 | g.47844846T>G | CA384514094 | VDR | c.1184A>C (p.Glu395Ala) c.*1186A>C (n.*1186A>C) c.1334A>C (p.Glu445Ala) c.1253A>C (p.Glu418Ala) | |
12 | g.47844847C>A | CA384514104 | VDR | c.1183G>T (p.Glu395Ter) c.*1185G>T (n.*1185G>T) c.1333G>T (p.Glu445Ter) c.1252G>T (p.Glu418Ter) | |
12 | g.47844847C= | CA2034408955 | VDR | c.1183G= (p.Glu395=) c.*1185G= (n.*1185G=) c.1333G= (p.Glu445=) c.1252G= (p.Glu418=) | |
12 | g.47844847C>G | CA384514100 | VDR | c.1183G>C (p.Glu395Gln) c.*1185G>C (n.*1185G>C) c.1333G>C (p.Glu445Gln) c.1252G>C (p.Glu418Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844847C>T | CA384514102 | VDR | c.1183G>A (p.Glu395Lys) c.*1185G>A (n.*1185G>A) c.1333G>A (p.Glu445Lys) c.1252G>A (p.Glu418Lys) | |
12 | g.47844848A= | CA2034408956 | VDR | c.1182T= (p.Asn394=) c.*1184T= (n.*1184T=) c.1332T= (p.Asn444=) c.1251T= (p.Asn417=) | |
12 | g.47844848A>C | CA384514107 | VDR | c.1182T>G (p.Asn394Lys) c.*1184T>G (n.*1184T>G) c.1332T>G (p.Asn444Lys) c.1251T>G (p.Asn417Lys) | |
12 | g.47844848A>G | CA479696480 | VDR | c.1182T>C (p.Asn394=) c.*1184T>C (n.*1184T>C) c.1332T>C (p.Asn444=) c.1251T>C (p.Asn417=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.47844848A>T | CA384514109 | VDR | c.1182T>A (p.Asn394Lys) c.*1184T>A (n.*1184T>A) c.1332T>A (p.Asn444Lys) c.1251T>A (p.Asn417Lys) | |
12 | g.47844849T>A | CA384514113 | VDR | c.1181A>T (p.Asn394Ile) c.*1183A>T (n.*1183A>T) c.1331A>T (p.Asn444Ile) c.1250A>T (p.Asn417Ile) | |
12 | g.47844849T>C | CA384514116 | VDR | c.1181A>G (p.Asn394Ser) c.*1183A>G (n.*1183A>G) c.1331A>G (p.Asn444Ser) c.1250A>G (p.Asn417Ser) | dbSNP gnomAD v4 |
12 | g.47844849T>G | CA384514119 | VDR | c.1181A>C (p.Asn394Thr) c.*1183A>C (n.*1183A>C) c.1331A>C (p.Asn444Thr) c.1250A>C (p.Asn417Thr) | |
12 | g.47844849T= | CA2034408957 | VDR | c.1181A= (p.Asn394=) c.*1183A= (n.*1183A=) c.1331A= (p.Asn444=) c.1250A= (p.Asn417=) | |
12 | g.47844850T>A | CA384514121 | VDR | c.1180A>T (p.Asn394Tyr) c.*1182A>T (n.*1182A>T) c.1330A>T (p.Asn444Tyr) c.1249A>T (p.Asn417Tyr) | |
12 | g.47844850T>C | CA384514126 | VDR | c.1180A>G (p.Asn394Asp) c.*1182A>G (n.*1182A>G) c.1330A>G (p.Asn444Asp) c.1249A>G (p.Asn417Asp) | |
12 | g.47844850T>G | CA384514123 | VDR | c.1180A>C (p.Asn394His) c.*1182A>C (n.*1182A>C) c.1330A>C (p.Asn444His) c.1249A>C (p.Asn417His) | gnomAD v4 |
12 | g.47844851G>A | CA479696481 | VDR | c.1179C>T (p.Leu393=) c.*1181C>T (n.*1181C>T) c.1329C>T (p.Leu443=) c.1248C>T (p.Leu416=) | gnomAD v4 |
12 | g.47844851G>C | CA479696482 | VDR | c.1179C>G (p.Leu393=) c.*1181C>G (n.*1181C>G) c.1329C>G (p.Leu443=) c.1248C>G (p.Leu416=) | gnomAD v4 |
12 | g.47844851G>T | CA479696483 | VDR | c.1179C>A (p.Leu393=) c.*1181C>A (n.*1181C>A) c.1329C>A (p.Leu443=) c.1248C>A (p.Leu416=) | |
12 | g.47844852A>C | CA384514128 | VDR | c.1178T>G (p.Leu393Arg) c.*1180T>G (n.*1180T>G) c.1328T>G (p.Leu443Arg) c.1247T>G (p.Leu416Arg) | gnomAD v4 |
12 | g.47844852A>G | CA384514131 | VDR | c.1178T>C (p.Leu393Pro) c.*1180T>C (n.*1180T>C) c.1328T>C (p.Leu443Pro) c.1247T>C (p.Leu416Pro) | |
12 | g.47844852A>T | CA384514133 | VDR | c.1178T>A (p.Leu393His) c.*1180T>A (n.*1180T>A) c.1328T>A (p.Leu443His) c.1247T>A (p.Leu416His) | |
12 | g.47844853G>A | CA384514136 | VDR | c.1177C>T (p.Leu393Phe) c.*1179C>T (n.*1179C>T) c.1327C>T (p.Leu443Phe) c.1246C>T (p.Leu416Phe) | |
12 | g.47844853G>C | CA384514139 | VDR | c.1177C>G (p.Leu393Val) c.*1179C>G (n.*1179C>G) c.1327C>G (p.Leu443Val) c.1246C>G (p.Leu416Val) | |
12 | g.47844853G>T | CA384514141 | VDR | c.1177C>A (p.Leu393Ile) c.*1179C>A (n.*1179C>A) c.1327C>A (p.Leu443Ile) c.1246C>A (p.Leu416Ile) | |
12 | g.47844854G>A | CA479696484 | VDR | c.1176C>T (p.Ser392=) c.*1178C>T (n.*1178C>T) c.1326C>T (p.Ser442=) c.1245C>T (p.Ser415=) | |
12 | g.47844854G>C | CA384514144 | VDR | c.1176C>G (p.Ser392Arg) c.*1178C>G (n.*1178C>G) c.1326C>G (p.Ser442Arg) c.1245C>G (p.Ser415Arg) | |
12 | g.47844854G>T | CA384514147 | VDR | c.1176C>A (p.Ser392Arg) c.*1178C>A (n.*1178C>A) c.1326C>A (p.Ser442Arg) c.1245C>A (p.Ser415Arg) | |
12 | g.47844855C>A | CA384514149 | VDR | c.1175G>T (p.Ser392Ile) c.*1177G>T (n.*1177G>T) c.1325G>T (p.Ser442Ile) c.1244G>T (p.Ser415Ile) | |
12 | g.47844855C>G | CA384514151 | VDR | c.1175G>C (p.Ser392Thr) c.*1177G>C (n.*1177G>C) c.1325G>C (p.Ser442Thr) c.1244G>C (p.Ser415Thr) | COSMIC |
12 | g.47844855C>T | CA384514153 | VDR | c.1175G>A (p.Ser392Asn) c.*1177G>A (n.*1177G>A) c.1325G>A (p.Ser442Asn) c.1244G>A (p.Ser415Asn) | |
12 | g.47844856T>A | CA384514156 | VDR | c.1174A>T (p.Ser392Cys) c.*1176A>T (n.*1176A>T) c.1324A>T (p.Ser442Cys) c.1243A>T (p.Ser415Cys) | |
12 | g.47844856T>C | CA384514157 | VDR | c.1174A>G (p.Ser392Gly) c.*1176A>G (n.*1176A>G) c.1324A>G (p.Ser442Gly) c.1243A>G (p.Ser415Gly) | |
12 | g.47844856T>G | CA384514155 | VDR | c.1174A>C (p.Ser392Arg) c.*1176A>C (n.*1176A>C) c.1324A>C (p.Ser442Arg) c.1243A>C (p.Ser415Arg) | |
12 | g.47844857G>A | CA479696485 | VDR | c.1173C>T (p.Arg391=) c.*1175C>T (n.*1175C>T) c.1323C>T (p.Arg441=) c.1242C>T (p.Arg414=) | ClinVar |
12 | g.47844857G>C | CA479696486 | VDR | c.1173C>G (p.Arg391=) c.*1175C>G (n.*1175C>G) c.1323C>G (p.Arg441=) c.1242C>G (p.Arg414=) | |
12 | g.47844857G>T | CA479696487 | VDR | c.1173C>A (p.Arg391=) c.*1175C>A (n.*1175C>A) c.1323C>A (p.Arg441=) c.1242C>A (p.Arg414=) | |
12 | g.47844858C>A | CA384514160 | VDR | c.1172G>T (p.Arg391Leu) c.*1174G>T (n.*1174G>T) c.1322G>T (p.Arg441Leu) c.1241G>T (p.Arg414Leu) | gnomAD v4 |
12 | g.47844858C= | CA2034408958 | VDR | c.1172G= (p.Arg391=) c.*1174G= (n.*1174G=) c.1322G= (p.Arg441=) c.1241G= (p.Arg414=) | |
12 | g.47844858C>G | CA384514158 | VDR | c.1172G>C (p.Arg391Pro) c.*1174G>C (n.*1174G>C) c.1322G>C (p.Arg441Pro) c.1241G>C (p.Arg414Pro) | |
12 | g.47844858C>T | CA6533730 | VDR | c.1172G>A (p.Arg391His) c.*1174G>A (n.*1174G>A) c.1322G>A (p.Arg441His) c.1241G>A (p.Arg414His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.47844859G>A | CA119040 | VDR | c.1171C>T (p.Arg391Cys) c.*1173C>T (n.*1173C>T) c.1321C>T (p.Arg441Cys) c.1240C>T (p.Arg414Cys) | ClinVar dbSNP gnomAD v4 |
12 | g.47844859G>C | CA384514163 | VDR | c.1171C>G (p.Arg391Gly) c.*1173C>G (n.*1173C>G) c.1321C>G (p.Arg441Gly) c.1240C>G (p.Arg414Gly) | |
12 | g.47844859G= | CA2034408959 | VDR | c.1171C= (p.Arg391=) c.*1173C= (n.*1173C=) c.1321C= (p.Arg441=) c.1240C= (p.Arg414=) | |
12 | g.47844859G>T | CA10588005 | VDR | c.1171C>A (p.Arg391Ser) c.*1173C>A (n.*1173C>A) c.1321C>A (p.Arg441Ser) c.1240C>A (p.Arg414Ser) | ClinVar dbSNP |
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.47844874del | CA2841501071 | VDR | c.1157del (p.Lys386SerfsTer2) c.*1159del (n.*1159del) c.1307del (p.Lys436SerfsTer2) c.1226del (p.Lys409SerfsTer2) | |
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.47844888dup | CA2839427243 | VDR | c.1143dup (p.Lys382GlnfsTer14) c.*1145dup (n.*1145dup) c.1293dup (p.Lys432GlnfsTer14) c.1212dup (p.Lys405GlnfsTer14) | |
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.47844929dup | CA2838642964 | VDR | c.1102dup (p.Arg368ProfsTer28) c.*1104dup (n.*1104dup) c.1252dup (p.Arg418ProfsTer28) c.1171dup (p.Arg391ProfsTer28) | |
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) |