| 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.47844766A>C | CA384513598 | VDR | c.1264T>G (p.Phe422Val) c.*1266T>G (n.*1266T>G) c.1414T>G (p.Phe472Val) c.1333T>G (p.Phe445Val) | |
| 12 | g.47844766A>G | CA384513599 | VDR | c.1264T>C (p.Phe422Leu) c.*1266T>C (n.*1266T>C) c.1414T>C (p.Phe472Leu) c.1333T>C (p.Phe445Leu) | |
| 12 | g.47844766A>T | CA384513600 | VDR | c.1264T>A (p.Phe422Ile) c.*1266T>A (n.*1266T>A) c.1414T>A (p.Phe472Ile) c.1333T>A (p.Phe445Ile) | |
| 12 | g.47844767C>A | CA6533716 | VDR | c.1263G>T (p.Val421=) c.*1265G>T (n.*1265G>T) c.1413G>T (p.Val471=) c.1332G>T (p.Val444=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844767C= | CA2034408930 | VDR | c.1263G= (p.Val421=) c.*1265G= (n.*1265G=) c.1413G= (p.Val471=) c.1332G= (p.Val444=) | |
| 12 | g.47844767C>G | CA479696439 | VDR | c.1263G>C (p.Val421=) c.*1265G>C (n.*1265G>C) c.1413G>C (p.Val471=) c.1332G>C (p.Val444=) | |
| 12 | g.47844767C>T | CA479696440 | VDR | c.1263G>A (p.Val421=) c.*1265G>A (n.*1265G>A) c.1413G>A (p.Val471=) c.1332G>A (p.Val444=) | gnomAD v4 |
| 12 | g.47844768A>C | CA384513603 | VDR | c.1262T>G (p.Val421Gly) c.*1264T>G (n.*1264T>G) c.1412T>G (p.Val471Gly) c.1331T>G (p.Val444Gly) | |
| 12 | g.47844768A>G | CA384513601 | VDR | c.1262T>C (p.Val421Ala) c.*1264T>C (n.*1264T>C) c.1412T>C (p.Val471Ala) c.1331T>C (p.Val444Ala) | |
| 12 | g.47844768A>T | CA384513602 | VDR | c.1262T>A (p.Val421Glu) c.*1264T>A (n.*1264T>A) c.1412T>A (p.Val471Glu) c.1331T>A (p.Val444Glu) | |
| 12 | g.47844769C>A | CA384513609 | VDR | c.1261G>T (p.Val421Leu) c.*1263G>T (n.*1263G>T) c.1411G>T (p.Val471Leu) c.1330G>T (p.Val444Leu) | |
| 12 | g.47844769C>G | CA384513610 | VDR | c.1261G>C (p.Val421Leu) c.*1263G>C (n.*1263G>C) c.1411G>C (p.Val471Leu) c.1330G>C (p.Val444Leu) | |
| 12 | g.47844769C>T | CA384513615 | VDR | c.1261G>A (p.Val421Met) c.*1263G>A (n.*1263G>A) c.1411G>A (p.Val471Met) c.1330G>A (p.Val444Met) | |
| 12 | g.47844770T>A | CA384513618 | VDR | c.1260A>T (p.Glu420Asp) c.*1262A>T (n.*1262A>T) c.1410A>T (p.Glu470Asp) c.1329A>T (p.Glu443Asp) | |
| 12 | g.47844770T>C | CA479696441 | VDR | c.1260A>G (p.Glu420=) c.*1262A>G (n.*1262A>G) c.1410A>G (p.Glu470=) c.1329A>G (p.Glu443=) | |
| 12 | g.47844770T>G | CA384513621 | VDR | c.1260A>C (p.Glu420Asp) c.*1262A>C (n.*1262A>C) c.1410A>C (p.Glu470Asp) c.1329A>C (p.Glu443Asp) | |
| 12 | g.47844771T>A | CA384513622 | VDR | c.1259A>T (p.Glu420Val) c.*1261A>T (n.*1261A>T) c.1409A>T (p.Glu470Val) c.1328A>T (p.Glu443Val) | |
| 12 | g.47844771T>C | CA384513624 | VDR | c.1259A>G (p.Glu420Gly) c.*1261A>G (n.*1261A>G) c.1409A>G (p.Glu470Gly) c.1328A>G (p.Glu443Gly) | |
| 12 | g.47844771T>G | CA384513626 | VDR | c.1259A>C (p.Glu420Ala) c.*1261A>C (n.*1261A>C) c.1409A>C (p.Glu470Ala) c.1328A>C (p.Glu443Ala) | |
| 12 | g.47844772C>A | CA384513627 | VDR | c.1258G>T (p.Glu420Ter) c.*1260G>T (n.*1260G>T) c.1408G>T (p.Glu470Ter) c.1327G>T (p.Glu443Ter) | |
| 12 | g.47844772C>G | CA384513628 | VDR | c.1258G>C (p.Glu420Gln) c.*1260G>C (n.*1260G>C) c.1408G>C (p.Glu470Gln) c.1327G>C (p.Glu443Gln) | |
| 12 | g.47844772C>T | CA384513629 | VDR | c.1258G>A (p.Glu420Lys) c.*1260G>A (n.*1260G>A) c.1408G>A (p.Glu470Lys) c.1327G>A (p.Glu443Lys) | gnomAD v4 COSMIC |
| 12 | g.47844773G>A | CA6533717 | VDR | c.1257C>T (p.Leu419=) c.*1259C>T (n.*1259C>T) c.1407C>T (p.Leu469=) c.1326C>T (p.Leu442=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844773G>C | CA479696442 | VDR | c.1257C>G (p.Leu419=) c.*1259C>G (n.*1259C>G) c.1407C>G (p.Leu469=) c.1326C>G (p.Leu442=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844773G= | CA2034408931 | VDR | c.1257C= (p.Leu419=) c.*1259C= (n.*1259C=) c.1407C= (p.Leu469=) c.1326C= (p.Leu442=) | |
| 12 | g.47844773G>T | CA479696443 | VDR | c.1257C>A (p.Leu419=) c.*1259C>A (n.*1259C>A) c.1407C>A (p.Leu469=) c.1326C>A (p.Leu442=) | gnomAD v4 |
| 12 | g.47844774A>C | CA384513635 | VDR | c.1256T>G (p.Leu419Arg) c.*1258T>G (n.*1258T>G) c.1406T>G (p.Leu469Arg) c.1325T>G (p.Leu442Arg) | |
| 12 | g.47844774A>G | CA384513633 | VDR | c.1256T>C (p.Leu419Pro) c.*1258T>C (n.*1258T>C) c.1406T>C (p.Leu469Pro) c.1325T>C (p.Leu442Pro) | |
| 12 | g.47844774A>T | CA384513630 | VDR | c.1256T>A (p.Leu419His) c.*1258T>A (n.*1258T>A) c.1406T>A (p.Leu469His) c.1325T>A (p.Leu442His) | gnomAD v4 |
| 12 | g.47844775G>A | CA384513644 | VDR | c.1255C>T (p.Leu419Phe) c.*1257C>T (n.*1257C>T) c.1405C>T (p.Leu469Phe) c.1324C>T (p.Leu442Phe) | |
| 12 | g.47844775G>C | CA384513647 | VDR | c.1255C>G (p.Leu419Val) c.*1257C>G (n.*1257C>G) c.1405C>G (p.Leu469Val) c.1324C>G (p.Leu442Val) | dbSNP |
| 12 | g.47844775G= | CA2034408932 | VDR | c.1255C= (p.Leu419=) c.*1257C= (n.*1257C=) c.1405C= (p.Leu469=) c.1324C= (p.Leu442=) | |
| 12 | g.47844775G>T | CA384513652 | VDR | c.1255C>A (p.Leu419Ile) c.*1257C>A (n.*1257C>A) c.1405C>A (p.Leu469Ile) c.1324C>A (p.Leu442Ile) | |
| 12 | g.47844776C>A | CA479696444 | VDR | c.1254G>T (p.Val418=) c.*1256G>T (n.*1256G>T) c.1404G>T (p.Val468=) c.1323G>T (p.Val441=) | COSMIC COSMIC |
| 12 | g.47844776C= | CA2034408933 | VDR | c.1254G= (p.Val418=) c.*1256G= (n.*1256G=) c.1404G= (p.Val468=) c.1323G= (p.Val441=) | |
| 12 | g.47844776C>G | CA479696445 | VDR | c.1254G>C (p.Val418=) c.*1256G>C (n.*1256G>C) c.1404G>C (p.Val468=) c.1323G>C (p.Val441=) | |
| 12 | g.47844776C>T | CA6533718 | VDR | c.1254G>A (p.Val418=) c.*1256G>A (n.*1256G>A) c.1404G>A (p.Val468=) c.1323G>A (p.Val441=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844777A>C | CA384513656 | VDR | c.1253T>G (p.Val418Gly) c.*1255T>G (n.*1255T>G) c.1403T>G (p.Val468Gly) c.1322T>G (p.Val441Gly) | |
| 12 | g.47844777A>G | CA384513657 | VDR | c.1253T>C (p.Val418Ala) c.*1255T>C (n.*1255T>C) c.1403T>C (p.Val468Ala) c.1322T>C (p.Val441Ala) | |
| 12 | g.47844777A>T | CA384513658 | VDR | c.1253T>A (p.Val418Glu) c.*1255T>A (n.*1255T>A) c.1403T>A (p.Val468Glu) c.1322T>A (p.Val441Glu) | |
| 12 | g.47844778C>A | CA384513659 | VDR | c.1252G>T (p.Val418Leu) c.*1254G>T (n.*1254G>T) c.1402G>T (p.Val468Leu) c.1321G>T (p.Val441Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844778C= | CA2034408934 | VDR | c.1252G= (p.Val418=) c.*1254G= (n.*1254G=) c.1402G= (p.Val468=) c.1321G= (p.Val441=) | |
| 12 | g.47844778C>G | CA384513662 | VDR | c.1252G>C (p.Val418Leu) c.*1254G>C (n.*1254G>C) c.1402G>C (p.Val468Leu) c.1321G>C (p.Val441Leu) | |
| 12 | g.47844778C>T | CA384513665 | VDR | c.1252G>A (p.Val418Met) c.*1254G>A (n.*1254G>A) c.1402G>A (p.Val468Met) c.1321G>A (p.Val441Met) | |
| 12 | g.47844779A>C | CA479696448 | VDR | c.1251T>G (p.Leu417=) c.*1253T>G (n.*1253T>G) c.1401T>G (p.Leu467=) c.1320T>G (p.Leu440=) | |
| 12 | g.47844779A>G | CA479696447 | VDR | c.1251T>C (p.Leu417=) c.*1253T>C (n.*1253T>C) c.1401T>C (p.Leu467=) c.1320T>C (p.Leu440=) | |
| 12 | g.47844779A>T | CA479696446 | VDR | c.1251T>A (p.Leu417=) c.*1253T>A (n.*1253T>A) c.1401T>A (p.Leu467=) c.1320T>A (p.Leu440=) | |
| 12 | g.47844780A>C | CA384513668 | VDR | c.1250T>G (p.Leu417Arg) c.*1252T>G (n.*1252T>G) c.1400T>G (p.Leu467Arg) c.1319T>G (p.Leu440Arg) | |
| 12 | g.47844780A>G | CA384513670 | VDR | c.1250T>C (p.Leu417Pro) c.*1252T>C (n.*1252T>C) c.1400T>C (p.Leu467Pro) c.1319T>C (p.Leu440Pro) | |
| 12 | g.47844780A>T | CA384513673 | VDR | c.1250T>A (p.Leu417His) c.*1252T>A (n.*1252T>A) c.1400T>A (p.Leu467His) c.1319T>A (p.Leu440His) | |
| 12 | g.47844781G>A | CA384513679 | VDR | c.1249C>T (p.Leu417Phe) c.*1251C>T (n.*1251C>T) c.1399C>T (p.Leu467Phe) c.1318C>T (p.Leu440Phe) | |
| 12 | g.47844781G>C | CA384513681 | VDR | c.1249C>G (p.Leu417Val) c.*1251C>G (n.*1251C>G) c.1399C>G (p.Leu467Val) c.1318C>G (p.Leu440Val) | |
| 12 | g.47844781G>T | CA384513676 | VDR | c.1249C>A (p.Leu417Ile) c.*1251C>A (n.*1251C>A) c.1399C>A (p.Leu467Ile) c.1318C>A (p.Leu440Ile) | |
| 12 | g.47844782G>A | CA479696449 | VDR | c.1248C>T (p.Pro416=) c.*1250C>T (n.*1250C>T) c.1398C>T (p.Pro466=) c.1317C>T (p.Pro439=) | gnomAD v4 |
| 12 | g.47844782G>C | CA479696450 | VDR | c.1248C>G (p.Pro416=) c.*1250C>G (n.*1250C>G) c.1398C>G (p.Pro466=) c.1317C>G (p.Pro439=) | |
| 12 | g.47844782G>T | CA479696451 | VDR | c.1248C>A (p.Pro416=) c.*1250C>A (n.*1250C>A) c.1398C>A (p.Pro466=) c.1317C>A (p.Pro439=) | |
| 12 | g.47844783G>A | CA384513686 | VDR | c.1247C>T (p.Pro416Leu) c.*1249C>T (n.*1249C>T) c.1397C>T (p.Pro466Leu) c.1316C>T (p.Pro439Leu) | |
| 12 | g.47844783G>C | CA384513688 | VDR | c.1247C>G (p.Pro416Arg) c.*1249C>G (n.*1249C>G) c.1397C>G (p.Pro466Arg) c.1316C>G (p.Pro439Arg) | |
| 12 | g.47844783G>T | CA384513690 | VDR | c.1247C>A (p.Pro416His) c.*1249C>A (n.*1249C>A) c.1397C>A (p.Pro466His) c.1316C>A (p.Pro439His) | |
| 12 | g.47844784G>A | CA384513692 | VDR | c.1246C>T (p.Pro416Ser) c.*1248C>T (n.*1248C>T) c.1396C>T (p.Pro466Ser) c.1315C>T (p.Pro439Ser) | |
| 12 | g.47844784G>C | CA384513696 | VDR | c.1246C>G (p.Pro416Ala) c.*1248C>G (n.*1248C>G) c.1396C>G (p.Pro466Ala) c.1315C>G (p.Pro439Ala) | |
| 12 | g.47844784G>T | CA384513699 | VDR | c.1246C>A (p.Pro416Thr) c.*1248C>A (n.*1248C>A) c.1396C>A (p.Pro466Thr) c.1315C>A (p.Pro439Thr) | COSMIC COSMIC |
| 12 | g.47844785C>A | CA6533720 | VDR | c.1245G>T (p.Thr415=) c.*1247G>T (n.*1247G>T) c.1395G>T (p.Thr465=) c.1314G>T (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844785C= | CA2034408935 | VDR | c.1245G= (p.Thr415=) c.*1247G= (n.*1247G=) c.1395G= (p.Thr465=) c.1314G= (p.Thr438=) | |
| 12 | g.47844785C>G | CA6533721 | VDR | c.1245G>C (p.Thr415=) c.*1247G>C (n.*1247G>C) c.1395G>C (p.Thr465=) c.1314G>C (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844785C>T | CA6533719 | VDR | c.1245G>A (p.Thr415=) c.*1247G>A (n.*1247G>A) c.1395G>A (p.Thr465=) c.1314G>A (p.Thr438=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844786G>A | CA384513708 | VDR | c.1244C>T (p.Thr415Met) c.*1246C>T (n.*1246C>T) c.1394C>T (p.Thr465Met) c.1313C>T (p.Thr438Met) | |
| 12 | g.47844786G>C | CA6533722 | VDR | c.1244C>G (p.Thr415Arg) c.*1246C>G (n.*1246C>G) c.1394C>G (p.Thr465Arg) c.1313C>G (p.Thr438Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844786G= | CA2034408936 | VDR | c.1244C= (p.Thr415=) c.*1246C= (n.*1246C=) c.1394C= (p.Thr465=) c.1313C= (p.Thr438=) | |
| 12 | g.47844786G>T | CA384513715 | VDR | c.1244C>A (p.Thr415Lys) c.*1246C>A (n.*1246C>A) c.1394C>A (p.Thr465Lys) c.1313C>A (p.Thr438Lys) | |
| 12 | g.47844787T>A | CA384513717 | VDR | c.1243A>T (p.Thr415Ser) c.*1245A>T (n.*1245A>T) c.1393A>T (p.Thr465Ser) c.1312A>T (p.Thr438Ser) | |
| 12 | g.47844787T>C | CA384513720 | VDR | c.1243A>G (p.Thr415Ala) c.*1245A>G (n.*1245A>G) c.1393A>G (p.Thr465Ala) c.1312A>G (p.Thr438Ala) | |
| 12 | g.47844787T>G | CA384513721 | VDR | c.1243A>C (p.Thr415Pro) c.*1245A>C (n.*1245A>C) c.1393A>C (p.Thr465Pro) c.1312A>C (p.Thr438Pro) | |
| 12 | g.47844788T>A | CA479696452 | VDR | c.1242A>T (p.Leu414=) c.*1244A>T (n.*1244A>T) c.1392A>T (p.Leu464=) c.1311A>T (p.Leu437=) | |
| 12 | g.47844788T>C | CA479696453 | VDR | c.1242A>G (p.Leu414=) c.*1244A>G (n.*1244A>G) c.1392A>G (p.Leu464=) c.1311A>G (p.Leu437=) | |
| 12 | g.47844788T>G | CA479696454 | VDR | c.1242A>C (p.Leu414=) c.*1244A>C (n.*1244A>C) c.1392A>C (p.Leu464=) c.1311A>C (p.Leu437=) | ClinVar |
| 12 | g.47844789A>C | CA384513722 | VDR | c.1241T>G (p.Leu414Arg) c.*1243T>G (n.*1243T>G) c.1391T>G (p.Leu464Arg) c.1310T>G (p.Leu437Arg) | |
| 12 | g.47844789A>G | CA384513724 | VDR | c.1241T>C (p.Leu414Pro) c.*1243T>C (n.*1243T>C) c.1391T>C (p.Leu464Pro) c.1310T>C (p.Leu437Pro) | |
| 12 | g.47844789A>T | CA384513723 | VDR | c.1241T>A (p.Leu414Gln) c.*1243T>A (n.*1243T>A) c.1391T>A (p.Leu464Gln) c.1310T>A (p.Leu437Gln) | |
| 12 | g.47844790G>A | CA479696455 | VDR | c.1240C>T (p.Leu414=) c.*1242C>T (n.*1242C>T) c.1390C>T (p.Leu464=) c.1309C>T (p.Leu437=) | |
| 12 | g.47844790G>C | CA384513726 | VDR | c.1240C>G (p.Leu414Val) c.*1242C>G (n.*1242C>G) c.1390C>G (p.Leu464Val) c.1309C>G (p.Leu437Val) | |
| 12 | g.47844790G>T | CA384513728 | VDR | c.1240C>A (p.Leu414Ile) c.*1242C>A (n.*1242C>A) c.1390C>A (p.Leu464Ile) c.1309C>A (p.Leu437Ile) | |
| 12 | g.47844791C>A | CA384513730 | VDR | c.1239G>T (p.Lys413Asn) c.*1241G>T (n.*1241G>T) c.1389G>T (p.Lys463Asn) c.1308G>T (p.Lys436Asn) | |
| 12 | g.47844791C>G | CA384513732 | VDR | c.1239G>C (p.Lys413Asn) c.*1241G>C (n.*1241G>C) c.1389G>C (p.Lys463Asn) c.1308G>C (p.Lys436Asn) | |
| 12 | g.47844791C>T | CA479696456 | VDR | c.1239G>A (p.Lys413=) c.*1241G>A (n.*1241G>A) c.1389G>A (p.Lys463=) c.1308G>A (p.Lys436=) | gnomAD v4 COSMIC COSMIC |
| 12 | g.47844791_47844792delinsCT | CA2034408937 | VDR | c.1238_1239delinsAG (p.Lys413=) c.*1240_*1241delinsAG (n.*1240_*1241delinsAG) c.1388_1389delinsAG (p.Lys463=) c.1307_1308delinsAG (p.Lys436=) | |
| 12 | g.47844792T>A | CA384513736 | VDR | c.1238A>T (p.Lys413Met) c.*1240A>T (n.*1240A>T) c.1388A>T (p.Lys463Met) c.1307A>T (p.Lys436Met) | |
| 12 | g.47844792T>C | CA384513738 | VDR | c.1238A>G (p.Lys413Arg) c.*1240A>G (n.*1240A>G) c.1388A>G (p.Lys463Arg) c.1307A>G (p.Lys436Arg) | |
| 12 | g.47844792T>G | CA384513740 | VDR | c.1238A>C (p.Lys413Thr) c.*1240A>C (n.*1240A>C) c.1388A>C (p.Lys463Thr) c.1307A>C (p.Lys436Thr) | |
| 12 | g.47844793dup | CA2034408938 | VDR | c.1238dup (p.Leu414AlafsTer12) c.*1240dup (n.*1240dup) c.1388dup (p.Leu464AlafsTer12) c.1307dup (p.Leu437AlafsTer12) | dbSNP |
| 12 | g.47844793del | CA6533723 | VDR | c.1238del (p.Lys413SerfsTer2) c.*1240del (n.*1240del) c.1388del (p.Lys463SerfsTer2) c.1307del (p.Lys436SerfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844793T>A | CA384513750 | VDR | c.1237A>T (p.Lys413Ter) c.*1239A>T (n.*1239A>T) c.1387A>T (p.Lys463Ter) c.1306A>T (p.Lys436Ter) | |
| 12 | g.47844793T>C | CA384513753 | VDR | c.1237A>G (p.Lys413Glu) c.*1239A>G (n.*1239A>G) c.1387A>G (p.Lys463Glu) c.1306A>G (p.Lys436Glu) | |
| 12 | g.47844793T>G | CA384513754 | VDR | c.1237A>C (p.Lys413Gln) c.*1239A>C (n.*1239A>C) c.1387A>C (p.Lys463Gln) c.1306A>C (p.Lys436Gln) | |
| 12 | g.47844794C>A | CA384513757 | VDR | c.1236G>T (p.Met412Ile) c.*1238G>T (n.*1238G>T) c.1386G>T (p.Met462Ile) c.1305G>T (p.Met435Ile) | |
| 12 | g.47844794C>G | CA384513760 | VDR | c.1236G>C (p.Met412Ile) c.*1238G>C (n.*1238G>C) c.1386G>C (p.Met462Ile) c.1305G>C (p.Met435Ile) | |
| 12 | g.47844794C>T | CA384513758 | VDR | c.1236G>A (p.Met412Ile) c.*1238G>A (n.*1238G>A) c.1386G>A (p.Met462Ile) c.1305G>A (p.Met435Ile) | COSMIC COSMIC |
| 12 | g.47844795A= | CA2034408939 | VDR | c.1235T= (p.Met412=) c.*1237T= (n.*1237T=) c.1385T= (p.Met462=) c.1304T= (p.Met435=) | |
| 12 | g.47844795A>C | CA384513763 | VDR | c.1235T>G (p.Met412Arg) c.*1237T>G (n.*1237T>G) c.1385T>G (p.Met462Arg) c.1304T>G (p.Met435Arg) | |
| 12 | g.47844795A>G | CA236506020 | VDR | c.1235T>C (p.Met412Thr) c.*1237T>C (n.*1237T>C) c.1385T>C (p.Met462Thr) c.1304T>C (p.Met435Thr) | dbSNP gnomAD v4 |
| 12 | g.47844795A>T | CA384513766 | VDR | c.1235T>A (p.Met412Lys) c.*1237T>A (n.*1237T>A) c.1385T>A (p.Met462Lys) c.1304T>A (p.Met435Lys) | gnomAD v4 |
| 12 | g.47844796T>A | CA384513767 | VDR | c.1234A>T (p.Met412Leu) c.*1236A>T (n.*1236A>T) c.1384A>T (p.Met462Leu) c.1303A>T (p.Met435Leu) | |
| 12 | g.47844796T>C | CA384513768 | VDR | c.1234A>G (p.Met412Val) c.*1236A>G (n.*1236A>G) c.1384A>G (p.Met462Val) c.1303A>G (p.Met435Val) | |
| 12 | g.47844796T>G | CA384513769 | VDR | c.1234A>C (p.Met412Leu) c.*1236A>C (n.*1236A>C) c.1384A>C (p.Met462Leu) c.1303A>C (p.Met435Leu) | |
| 12 | g.47844797G>A | CA479696457 | VDR | c.1233C>T (p.Ser411=) c.*1235C>T (n.*1235C>T) c.1383C>T (p.Ser461=) c.1302C>T (p.Ser434=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844797G>C | CA384513771 | VDR | c.1233C>G (p.Ser411Arg) c.*1235C>G (n.*1235C>G) c.1383C>G (p.Ser461Arg) c.1302C>G (p.Ser434Arg) | |
| 12 | g.47844797G= | CA2034408940 | VDR | c.1233C= (p.Ser411=) c.*1235C= (n.*1235C=) c.1383C= (p.Ser461=) c.1302C= (p.Ser434=) | |
| 12 | g.47844797G>T | CA384513772 | VDR | c.1233C>A (p.Ser411Arg) c.*1235C>A (n.*1235C>A) c.1383C>A (p.Ser461Arg) c.1302C>A (p.Ser434Arg) | |
| 12 | g.47844798C>A | CA384513778 | VDR | c.1232G>T (p.Ser411Ile) c.*1234G>T (n.*1234G>T) c.1382G>T (p.Ser461Ile) c.1301G>T (p.Ser434Ile) | |
| 12 | g.47844798C>G | CA384513781 | VDR | c.1232G>C (p.Ser411Thr) c.*1234G>C (n.*1234G>C) c.1382G>C (p.Ser461Thr) c.1301G>C (p.Ser434Thr) | |
| 12 | g.47844798C>T | CA384513784 | VDR | c.1232G>A (p.Ser411Asn) c.*1234G>A (n.*1234G>A) c.1382G>A (p.Ser461Asn) c.1301G>A (p.Ser434Asn) | |
| 12 | g.47844799T>A | CA384513791 | VDR | c.1231A>T (p.Ser411Cys) c.*1233A>T (n.*1233A>T) c.1381A>T (p.Ser461Cys) c.1300A>T (p.Ser434Cys) | |
| 12 | g.47844799T>C | CA384513789 | VDR | c.1231A>G (p.Ser411Gly) c.*1233A>G (n.*1233A>G) c.1381A>G (p.Ser461Gly) c.1300A>G (p.Ser434Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844799T>G | CA384513786 | VDR | c.1231A>C (p.Ser411Arg) c.*1233A>C (n.*1233A>C) c.1381A>C (p.Ser461Arg) c.1300A>C (p.Ser434Arg) | |
| 12 | g.47844800G>A | CA479696458 | VDR | c.1230C>T (p.Cys410=) c.*1232C>T (n.*1232C>T) c.1380C>T (p.Cys460=) c.1299C>T (p.Cys433=) | |
| 12 | g.47844800G>C | CA384513795 | VDR | c.1230C>G (p.Cys410Trp) c.*1232C>G (n.*1232C>G) c.1380C>G (p.Cys460Trp) c.1299C>G (p.Cys433Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844800G= | CA2034408941 | VDR | c.1230C= (p.Cys410=) c.*1232C= (n.*1232C=) c.1380C= (p.Cys460=) c.1299C= (p.Cys433=) | |
| 12 | g.47844800G>T | CA384513797 | VDR | c.1230C>A (p.Cys410Ter) c.*1232C>A (n.*1232C>A) c.1380C>A (p.Cys460Ter) c.1299C>A (p.Cys433Ter) | |
| 12 | g.47844801C>A | CA384513803 | VDR | c.1229G>T (p.Cys410Phe) c.*1231G>T (n.*1231G>T) c.1379G>T (p.Cys460Phe) c.1298G>T (p.Cys433Phe) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844801C= | CA2034408942 | VDR | c.1229G= (p.Cys410=) c.*1231G= (n.*1231G=) c.1379G= (p.Cys460=) c.1298G= (p.Cys433=) | |
| 12 | g.47844801C>G | CA384513805 | VDR | c.1229G>C (p.Cys410Ser) c.*1231G>C (n.*1231G>C) c.1379G>C (p.Cys460Ser) c.1298G>C (p.Cys433Ser) | |
| 12 | g.47844801C>T | CA384513812 | VDR | c.1229G>A (p.Cys410Tyr) c.*1231G>A (n.*1231G>A) c.1379G>A (p.Cys460Tyr) c.1298G>A (p.Cys433Tyr) | |
| 12 | g.47844802A>C | CA384513816 | VDR | c.1228T>G (p.Cys410Gly) c.*1230T>G (n.*1230T>G) c.1378T>G (p.Cys460Gly) c.1297T>G (p.Cys433Gly) | |
| 12 | g.47844802A>G | CA384513821 | VDR | c.1228T>C (p.Cys410Arg) c.*1230T>C (n.*1230T>C) c.1378T>C (p.Cys460Arg) c.1297T>C (p.Cys433Arg) | |
| 12 | g.47844802A>T | CA384513823 | VDR | c.1228T>A (p.Cys410Ser) c.*1230T>A (n.*1230T>A) c.1378T>A (p.Cys460Ser) c.1297T>A (p.Cys433Ser) | |
| 12 | g.47844803C>A | CA384513825 | VDR | c.1227G>T (p.Glu409Asp) c.*1229G>T (n.*1229G>T) c.1377G>T (p.Glu459Asp) c.1296G>T (p.Glu432Asp) | |
| 12 | g.47844803C>G | CA384513827 | VDR | c.1227G>C (p.Glu409Asp) c.*1229G>C (n.*1229G>C) c.1377G>C (p.Glu459Asp) c.1296G>C (p.Glu432Asp) | |
| 12 | g.47844803C>T | CA479696459 | VDR | c.1227G>A (p.Glu409=) c.*1229G>A (n.*1229G>A) c.1377G>A (p.Glu459=) c.1296G>A (p.Glu432=) | |
| 12 | g.47844804T>A | CA384513830 | VDR | c.1226A>T (p.Glu409Val) c.*1228A>T (n.*1228A>T) c.1376A>T (p.Glu459Val) c.1295A>T (p.Glu432Val) | |
| 12 | g.47844804T>C | CA384513832 | VDR | c.1226A>G (p.Glu409Gly) c.*1228A>G (n.*1228A>G) c.1376A>G (p.Glu459Gly) c.1295A>G (p.Glu432Gly) | |
| 12 | g.47844804T>G | CA384513834 | VDR | c.1226A>C (p.Glu409Ala) c.*1228A>C (n.*1228A>C) c.1376A>C (p.Glu459Ala) c.1295A>C (p.Glu432Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47844804T= | CA2034408943 | VDR | c.1226A= (p.Glu409=) c.*1228A= (n.*1228A=) c.1376A= (p.Glu459=) c.1295A= (p.Glu432=) | |
| 12 | g.47844805C>A | CA384513838 | VDR | c.1225G>T (p.Glu409Ter) c.*1227G>T (n.*1227G>T) c.1375G>T (p.Glu459Ter) c.1294G>T (p.Glu432Ter) | |
| 12 | g.47844805C>G | CA384513840 | VDR | c.1225G>C (p.Glu409Gln) c.*1227G>C (n.*1227G>C) c.1375G>C (p.Glu459Gln) c.1294G>C (p.Glu432Gln) | |
| 12 | g.47844805C>T | CA384513836 | VDR | c.1225G>A (p.Glu409Lys) c.*1227G>A (n.*1227G>A) c.1375G>A (p.Glu459Lys) c.1294G>A (p.Glu432Lys) | |
| 12 | g.47844806A>C | CA479696460 | VDR | c.1224T>G (p.Pro408=) c.*1226T>G (n.*1226T>G) c.1374T>G (p.Pro458=) c.1293T>G (p.Pro431=) | |
| 12 | g.47844806A>G | CA479696461 | VDR | c.1224T>C (p.Pro408=) c.*1226T>C (n.*1226T>C) c.1374T>C (p.Pro458=) c.1293T>C (p.Pro431=) | gnomAD v4 |
| 12 | g.47844806A>T | CA479696462 | VDR | c.1224T>A (p.Pro408=) c.*1226T>A (n.*1226T>A) c.1374T>A (p.Pro458=) c.1293T>A (p.Pro431=) | |
| 12 | g.47844807G>A | CA384513846 | VDR | c.1223C>T (p.Pro408Leu) c.*1225C>T (n.*1225C>T) c.1373C>T (p.Pro458Leu) c.1292C>T (p.Pro431Leu) | |
| 12 | g.47844807G>C | CA384513844 | VDR | c.1223C>G (p.Pro408Arg) c.*1225C>G (n.*1225C>G) c.1373C>G (p.Pro458Arg) c.1292C>G (p.Pro431Arg) | |
| 12 | g.47844807G>T | CA384513848 | VDR | c.1223C>A (p.Pro408His) c.*1225C>A (n.*1225C>A) c.1373C>A (p.Pro458His) c.1292C>A (p.Pro431His) | |
| 12 | g.47844808G>A | CA384513850 | VDR | c.1222C>T (p.Pro408Ser) c.*1224C>T (n.*1224C>T) c.1372C>T (p.Pro458Ser) c.1291C>T (p.Pro431Ser) | gnomAD v4 |
| 12 | g.47844808G>C | CA384513851 | VDR | c.1222C>G (p.Pro408Ala) c.*1224C>G (n.*1224C>G) c.1372C>G (p.Pro458Ala) c.1291C>G (p.Pro431Ala) | |
| 12 | g.47844808G>T | CA384513853 | VDR | c.1222C>A (p.Pro408Thr) c.*1224C>A (n.*1224C>A) c.1372C>A (p.Pro458Thr) c.1291C>A (p.Pro431Thr) | |
| 12 | g.47844809C>A | CA384513855 | VDR | c.1221G>T (p.Gln407His) c.*1223G>T (n.*1223G>T) c.1371G>T (p.Gln457His) c.1290G>T (p.Gln430His) | |
| 12 | g.47844809C>G | CA384513856 | VDR | c.1221G>C (p.Gln407His) c.*1223G>C (n.*1223G>C) c.1371G>C (p.Gln457His) c.1290G>C (p.Gln430His) | |
| 12 | g.47844809C>T | CA479696463 | VDR | c.1221G>A (p.Gln407=) c.*1223G>A (n.*1223G>A) c.1371G>A (p.Gln457=) c.1290G>A (p.Gln430=) | gnomAD v4 |
| 12 | g.47844810T>A | CA384513859 | VDR | c.1220A>T (p.Gln407Leu) c.*1222A>T (n.*1222A>T) c.1370A>T (p.Gln457Leu) c.1289A>T (p.Gln430Leu) | |
| 12 | g.47844810T>C | CA384513860 | VDR | c.1220A>G (p.Gln407Arg) c.*1222A>G (n.*1222A>G) c.1370A>G (p.Gln457Arg) c.1289A>G (p.Gln430Arg) | |
| 12 | g.47844810T>G | CA384513863 | VDR | c.1220A>C (p.Gln407Pro) c.*1222A>C (n.*1222A>C) c.1370A>C (p.Gln457Pro) c.1289A>C (p.Gln430Pro) | |
| 12 | g.47844811G>A | CA384513866 | VDR | c.1219C>T (p.Gln407Ter) c.*1221C>T (n.*1221C>T) c.1369C>T (p.Gln457Ter) c.1288C>T (p.Gln430Ter) | |
| 12 | g.47844811G>C | CA384513867 | VDR | c.1219C>G (p.Gln407Glu) c.*1221C>G (n.*1221C>G) c.1369C>G (p.Gln457Glu) c.1288C>G (p.Gln430Glu) | |
| 12 | g.47844811G>T | CA384513868 | VDR | c.1219C>A (p.Gln407Lys) c.*1221C>A (n.*1221C>A) c.1369C>A (p.Gln457Lys) c.1288C>A (p.Gln430Lys) | |
| 12 | g.47844812G>A | CA479696464 | VDR | c.1218C>T (p.Phe406=) c.*1220C>T (n.*1220C>T) c.1368C>T (p.Phe456=) c.1287C>T (p.Phe429=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47844812G>C | CA384513869 | VDR | c.1218C>G (p.Phe406Leu) c.*1220C>G (n.*1220C>G) c.1368C>G (p.Phe456Leu) c.1287C>G (p.Phe429Leu) | |
| 12 | g.47844812G= | CA2034408944 | VDR | c.1218C= (p.Phe406=) c.*1220C= (n.*1220C=) c.1368C= (p.Phe456=) c.1287C= (p.Phe429=) | |
| 12 | g.47844812G>T | CA384513870 | VDR | c.1218C>A (p.Phe406Leu) c.*1220C>A (n.*1220C>A) c.1368C>A (p.Phe456Leu) c.1287C>A (p.Phe429Leu) | |
| 12 | g.47844813A>C | CA384513877 | VDR | c.1217T>G (p.Phe406Cys) c.*1219T>G (n.*1219T>G) c.1367T>G (p.Phe456Cys) c.1286T>G (p.Phe429Cys) | |
| 12 | g.47844813A>G | CA384513876 | VDR | c.1217T>C (p.Phe406Ser) c.*1219T>C (n.*1219T>C) c.1367T>C (p.Phe456Ser) c.1286T>C (p.Phe429Ser) | |
| 12 | g.47844813A>T | CA384513874 | VDR | c.1217T>A (p.Phe406Tyr) c.*1219T>A (n.*1219T>A) c.1367T>A (p.Phe456Tyr) c.1286T>A (p.Phe429Tyr) | |
| 12 | g.47844814dup | CA6533724 | VDR | c.1217dup (p.Gln407ProfsTer3) c.*1219dup (n.*1219dup) c.1367dup (p.Gln457ProfsTer3) c.1286dup (p.Gln430ProfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844814A= | CA2034408945 | VDR | c.1216T= (p.Phe406=) c.*1218T= (n.*1218T=) c.1366T= (p.Phe456=) c.1285T= (p.Phe429=) | |
| 12 | g.47844814A>C | CA384513878 | VDR | c.1216T>G (p.Phe406Val) c.*1218T>G (n.*1218T>G) c.1366T>G (p.Phe456Val) c.1285T>G (p.Phe429Val) | gnomAD v4 |
| 12 | g.47844814A>G | CA384513879 | VDR | c.1216T>C (p.Phe406Leu) c.*1218T>C (n.*1218T>C) c.1366T>C (p.Phe456Leu) c.1285T>C (p.Phe429Leu) | |
| 12 | g.47844814A>T | CA384513880 | VDR | c.1216T>A (p.Phe406Ile) c.*1218T>A (n.*1218T>A) c.1366T>A (p.Phe456Ile) c.1285T>A (p.Phe429Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844815G>A | CA479696465 | VDR | c.1215C>T (p.Ser405=) c.*1217C>T (n.*1217C>T) c.1365C>T (p.Ser455=) c.1284C>T (p.Ser428=) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844815G>C | CA479696466 | VDR | c.1215C>G (p.Ser405=) c.*1217C>G (n.*1217C>G) c.1365C>G (p.Ser455=) c.1284C>G (p.Ser428=) | |
| 12 | g.47844815G= | CA2034408946 | VDR | c.1215C= (p.Ser405=) c.*1217C= (n.*1217C=) c.1365C= (p.Ser455=) c.1284C= (p.Ser428=) | |
| 12 | g.47844815G>T | CA479696467 | VDR | c.1215C>A (p.Ser405=) c.*1217C>A (n.*1217C>A) c.1365C>A (p.Ser455=) c.1284C>A (p.Ser428=) | |
| 12 | g.47844816G>A | CA384513881 | VDR | c.1214C>T (p.Ser405Phe) c.*1216C>T (n.*1216C>T) c.1364C>T (p.Ser455Phe) c.1283C>T (p.Ser428Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844816G>C | CA384513883 | VDR | c.1214C>G (p.Ser405Cys) c.*1216C>G (n.*1216C>G) c.1364C>G (p.Ser455Cys) c.1283C>G (p.Ser428Cys) | |
| 12 | g.47844816G= | CA2034408947 | VDR | c.1214C= (p.Ser405=) c.*1216C= (n.*1216C=) c.1364C= (p.Ser455=) c.1283C= (p.Ser428=) | |
| 12 | g.47844816G>T | CA384513885 | VDR | c.1214C>A (p.Ser405Tyr) c.*1216C>A (n.*1216C>A) c.1364C>A (p.Ser455Tyr) c.1283C>A (p.Ser428Tyr) | |
| 12 | g.47844817A>C | CA384513887 | VDR | c.1213T>G (p.Ser405Ala) c.*1215T>G (n.*1215T>G) c.1363T>G (p.Ser455Ala) c.1282T>G (p.Ser428Ala) | |
| 12 | g.47844817A>G | CA384513891 | VDR | c.1213T>C (p.Ser405Pro) c.*1215T>C (n.*1215T>C) c.1363T>C (p.Ser455Pro) c.1282T>C (p.Ser428Pro) | |
| 12 | g.47844817A>T | CA384513893 | VDR | c.1213T>A (p.Ser405Thr) c.*1215T>A (n.*1215T>A) c.1363T>A (p.Ser455Thr) c.1282T>A (p.Ser428Thr) | |
| 12 | g.47844818G>A | CA479696468 | VDR | c.1212C>T (p.Leu404=) c.*1214C>T (n.*1214C>T) c.1362C>T (p.Leu454=) c.1281C>T (p.Leu427=) | |
| 12 | g.47844818G>C | CA479696469 | VDR | c.1212C>G (p.Leu404=) c.*1214C>G (n.*1214C>G) c.1362C>G (p.Leu454=) c.1281C>G (p.Leu427=) | |
| 12 | g.47844818G>T | CA479696470 | VDR | c.1212C>A (p.Leu404=) c.*1214C>A (n.*1214C>A) c.1362C>A (p.Leu454=) c.1281C>A (p.Leu427=) | gnomAD v4 |
| 12 | g.47844819A>C | CA384513899 | VDR | c.1211T>G (p.Leu404Arg) c.*1213T>G (n.*1213T>G) c.1361T>G (p.Leu454Arg) c.1280T>G (p.Leu427Arg) | |
| 12 | g.47844819A>G | CA384513900 | VDR | c.1211T>C (p.Leu404Pro) c.*1213T>C (n.*1213T>C) c.1361T>C (p.Leu454Pro) c.1280T>C (p.Leu427Pro) | |
| 12 | g.47844819A>T | CA384513897 | VDR | c.1211T>A (p.Leu404His) c.*1213T>A (n.*1213T>A) c.1361T>A (p.Leu454His) c.1280T>A (p.Leu427His) | |
| 12 | g.47844820G>A | CA384513902 | VDR | c.1210C>T (p.Leu404Phe) c.*1212C>T (n.*1212C>T) c.1360C>T (p.Leu454Phe) c.1279C>T (p.Leu427Phe) | |
| 12 | g.47844820G>C | CA384513903 | VDR | c.1210C>G (p.Leu404Val) c.*1212C>G (n.*1212C>G) c.1360C>G (p.Leu454Val) c.1279C>G (p.Leu427Val) | |
| 12 | g.47844820G>T | CA384513905 | VDR | c.1210C>A (p.Leu404Ile) c.*1212C>A (n.*1212C>A) c.1360C>A (p.Leu454Ile) c.1279C>A (p.Leu427Ile) | |
| 12 | g.47844821G>A | CA479696471 | VDR | c.1209C>T (p.Cys403=) c.*1211C>T (n.*1211C>T) c.1359C>T (p.Cys453=) c.1278C>T (p.Cys426=) | |
| 12 | g.47844821G>C | CA384513907 | VDR | c.1209C>G (p.Cys403Trp) c.*1211C>G (n.*1211C>G) c.1359C>G (p.Cys453Trp) c.1278C>G (p.Cys426Trp) | |
| 12 | g.47844821G>T | CA384513910 | VDR | c.1209C>A (p.Cys403Ter) c.*1211C>A (n.*1211C>A) c.1359C>A (p.Cys453Ter) c.1278C>A (p.Cys426Ter) | |
| 12 | g.47844822C>A | CA384513922 | VDR | c.1208G>T (p.Cys403Phe) c.*1210G>T (n.*1210G>T) c.1358G>T (p.Cys453Phe) c.1277G>T (p.Cys426Phe) | gnomAD v4 |
| 12 | g.47844822C= | CA2034408948 | VDR | c.1208G= (p.Cys403=) c.*1210G= (n.*1210G=) c.1358G= (p.Cys453=) c.1277G= (p.Cys426=) | |
| 12 | g.47844822C>G | CA6533725 | VDR | c.1208G>C (p.Cys403Ser) c.*1210G>C (n.*1210G>C) c.1358G>C (p.Cys453Ser) c.1277G>C (p.Cys426Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844822C>T | CA384513925 | VDR | c.1208G>A (p.Cys403Tyr) c.*1210G>A (n.*1210G>A) c.1358G>A (p.Cys453Tyr) c.1277G>A (p.Cys426Tyr) | |
| 12 | g.47844823A>C | CA384513930 | VDR | c.1207T>G (p.Cys403Gly) c.*1209T>G (n.*1209T>G) c.1357T>G (p.Cys453Gly) c.1276T>G (p.Cys426Gly) | |
| 12 | g.47844823A>G | CA384513931 | VDR | c.1207T>C (p.Cys403Arg) c.*1209T>C (n.*1209T>C) c.1357T>C (p.Cys453Arg) c.1276T>C (p.Cys426Arg) | gnomAD v4 |
| 12 | g.47844823A>T | CA384513933 | VDR | c.1207T>A (p.Cys403Ser) c.*1209T>A (n.*1209T>A) c.1357T>A (p.Cys453Ser) c.1276T>A (p.Cys426Ser) | |
| 12 | g.47844824G>A | CA479696472 | VDR | c.1206C>T (p.Arg402=) c.*1208C>T (n.*1208C>T) c.1356C>T (p.Arg452=) c.1275C>T (p.Arg425=) | |
| 12 | g.47844824G>C | CA479696473 | VDR | c.1206C>G (p.Arg402=) c.*1208C>G (n.*1208C>G) c.1356C>G (p.Arg452=) c.1275C>G (p.Arg425=) | |
| 12 | g.47844824G= | CA2034408949 | VDR | c.1206C= (p.Arg402=) c.*1208C= (n.*1208C=) c.1356C= (p.Arg452=) c.1275C= (p.Arg425=) | |
| 12 | g.47844824G>T | CA6533726 | VDR | c.1206C>A (p.Arg402=) c.*1208C>A (n.*1208C>A) c.1356C>A (p.Arg452=) c.1275C>A (p.Arg425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47844826_47844833del | CA2695216861 | VDR | c.1199_1206del (p.Gln400LeufsTer7) c.*1201_*1208del (n.*1201_*1208del) c.1349_1356del (p.Gln450LeufsTer7) c.1268_1275del (p.Gln423LeufsTer7) | |
| 12 | g.47844825C>A | CA384513938 | VDR | c.1205G>T (p.Arg402Leu) c.*1207G>T (n.*1207G>T) c.1355G>T (p.Arg452Leu) c.1274G>T (p.Arg425Leu) | |
| 12 | g.47844825C>G | CA384513940 | VDR | c.1205G>C (p.Arg402Pro) c.*1207G>C (n.*1207G>C) c.1355G>C (p.Arg452Pro) c.1274G>C (p.Arg425Pro) | COSMIC COSMIC |
| 12 | g.47844825C>T | CA384513937 | VDR | c.1205G>A (p.Arg402His) c.*1207G>A (n.*1207G>A) c.1355G>A (p.Arg452His) c.1274G>A (p.Arg425His) | ClinVar gnomAD v4 COSMIC COSMIC |
| 12 | g.47844826G>A | CA384513943 | VDR | c.1204C>T (p.Arg402Cys) c.*1206C>T (n.*1206C>T) c.1354C>T (p.Arg452Cys) c.1273C>T (p.Arg425Cys) | ClinVar dbSNP |
| 12 | g.47844826G>C | CA384513945 | VDR | c.1204C>G (p.Arg402Gly) c.*1206C>G (n.*1206C>G) c.1354C>G (p.Arg452Gly) c.1273C>G (p.Arg425Gly) | |
| 12 | g.47844826G= | CA2034408950 | VDR | c.1204C= (p.Arg402=) c.*1206C= (n.*1206C=) c.1354C= (p.Arg452=) c.1273C= (p.Arg425=) | |
| 12 | g.47844826G>T | CA384513947 | VDR | c.1204C>A (p.Arg402Ser) c.*1206C>A (n.*1206C>A) c.1354C>A (p.Arg452Ser) c.1273C>A (p.Arg425Ser) | |
| 12 | g.47844827G>A | CA6533727 | VDR | c.1203C>T (p.Tyr401=) c.*1205C>T (n.*1205C>T) c.1353C>T (p.Tyr451=) c.1272C>T (p.Tyr424=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47844827G>C | CA384513950 | VDR | c.1203C>G (p.Tyr401Ter) c.*1205C>G (n.*1205C>G) c.1353C>G (p.Tyr451Ter) c.1272C>G (p.Tyr424Ter) | |
| 12 | g.47844827G= | CA2034408951 | VDR | c.1203C= (p.Tyr401=) c.*1205C= (n.*1205C=) c.1353C= (p.Tyr451=) c.1272C= (p.Tyr424=) | |
| 12 | g.47844827G>T | CA384513960 | VDR | c.1203C>A (p.Tyr401Ter) c.*1205C>A (n.*1205C>A) c.1353C>A (p.Tyr451Ter) c.1272C>A (p.Tyr424Ter) | |
| 12 | g.47844828T>A | CA384513969 | VDR | c.1202A>T (p.Tyr401Phe) c.*1204A>T (n.*1204A>T) c.1352A>T (p.Tyr451Phe) c.1271A>T (p.Tyr424Phe) | |
| 12 | g.47844828T>C | CA384513964 | VDR | c.1202A>G (p.Tyr401Cys) c.*1204A>G (n.*1204A>G) c.1352A>G (p.Tyr451Cys) c.1271A>G (p.Tyr424Cys) | |
| 12 | g.47844828T>G | CA384513966 | VDR | c.1202A>C (p.Tyr401Ser) c.*1204A>C (n.*1204A>C) c.1352A>C (p.Tyr451Ser) c.1271A>C (p.Tyr424Ser) | |
| 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.47844829A>C | CA384513970 | VDR | c.1201T>G (p.Tyr401Asp) c.*1203T>G (n.*1203T>G) c.1351T>G (p.Tyr451Asp) c.1270T>G (p.Tyr424Asp) | |
| 12 | g.47844829A>G | CA384513975 | VDR | c.1201T>C (p.Tyr401His) c.*1203T>C (n.*1203T>C) c.1351T>C (p.Tyr451His) c.1270T>C (p.Tyr424His) | |
| 12 | g.47844829A>T | CA384513978 | VDR | c.1201T>A (p.Tyr401Asn) c.*1203T>A (n.*1203T>A) c.1351T>A (p.Tyr451Asn) c.1270T>A (p.Tyr424Asn) | |
| 12 | g.47844830C>A | CA384513981 | VDR | c.1200G>T (p.Gln400His) c.*1202G>T (n.*1202G>T) c.1350G>T (p.Gln450His) c.1269G>T (p.Gln423His) | |
| 12 | g.47844830C>G | CA384513984 | VDR | c.1200G>C (p.Gln400His) c.*1202G>C (n.*1202G>C) c.1350G>C (p.Gln450His) c.1269G>C (p.Gln423His) | |
| 12 | g.47844830C>T | CA479696474 | VDR | c.1200G>A (p.Gln400=) c.*1202G>A (n.*1202G>A) c.1350G>A (p.Gln450=) c.1269G>A (p.Gln423=) | |
| 12 | g.47844831T>A | CA384513991 | VDR | c.1199A>T (p.Gln400Leu) c.*1201A>T (n.*1201A>T) c.1349A>T (p.Gln450Leu) c.1268A>T (p.Gln423Leu) | |
| 12 | g.47844831T>C | CA384513989 | VDR | c.1199A>G (p.Gln400Arg) c.*1201A>G (n.*1201A>G) c.1349A>G (p.Gln450Arg) c.1268A>G (p.Gln423Arg) | gnomAD v4 |
| 12 | g.47844831T>G | CA384513987 | VDR | c.1199A>C (p.Gln400Pro) c.*1201A>C (n.*1201A>C) c.1349A>C (p.Gln450Pro) c.1268A>C (p.Gln423Pro) | |
| 12 | g.47844832G>A | CA384513993 | VDR | c.1198C>T (p.Gln400Ter) c.*1200C>T (n.*1200C>T) c.1348C>T (p.Gln450Ter) c.1267C>T (p.Gln423Ter) | COSMIC COSMIC |
| 12 | g.47844832G>C | CA384513996 | VDR | c.1198C>G (p.Gln400Glu) c.*1200C>G (n.*1200C>G) c.1348C>G (p.Gln450Glu) c.1267C>G (p.Gln423Glu) | |
| 12 | g.47844832G>T | CA384514000 | VDR | c.1198C>A (p.Gln400Lys) c.*1200C>A (n.*1200C>A) c.1348C>A (p.Gln450Lys) c.1267C>A (p.Gln423Lys) | |
| 12 | g.47844833C>A | CA384514002 | VDR | c.1197G>T (p.Lys399Asn) c.*1199G>T (n.*1199G>T) c.1347G>T (p.Lys449Asn) c.1266G>T (p.Lys422Asn) | |
| 12 | g.47844833C>G | CA384514004 | VDR | c.1197G>C (p.Lys399Asn) c.*1199G>C (n.*1199G>C) c.1347G>C (p.Lys449Asn) c.1266G>C (p.Lys422Asn) | |
| 12 | g.47844833C>T | CA479696475 | VDR | c.1197G>A (p.Lys399=) c.*1199G>A (n.*1199G>A) c.1347G>A (p.Lys449=) c.1266G>A (p.Lys422=) | |
| 12 | g.47844834T>A | CA384514008 | VDR | c.1196A>T (p.Lys399Met) c.*1198A>T (n.*1198A>T) c.1346A>T (p.Lys449Met) c.1265A>T (p.Lys422Met) | COSMIC COSMIC |
| 12 | g.47844834T>C | CA384514010 | VDR | c.1196A>G (p.Lys399Arg) c.*1198A>G (n.*1198A>G) c.1346A>G (p.Lys449Arg) c.1265A>G (p.Lys422Arg) | |
| 12 | g.47844834T>G | CA384514013 | VDR | c.1196A>C (p.Lys399Thr) c.*1198A>C (n.*1198A>C) c.1346A>C (p.Lys449Thr) c.1265A>C (p.Lys422Thr) | |
| 12 | g.47844835T>A | CA384514015 | VDR | c.1195A>T (p.Lys399Ter) c.*1197A>T (n.*1197A>T) c.1345A>T (p.Lys449Ter) c.1264A>T (p.Lys422Ter) | |
| 12 | g.47844835T>C | CA384514017 | VDR | c.1195A>G (p.Lys399Glu) c.*1197A>G (n.*1197A>G) c.1345A>G (p.Lys449Glu) c.1264A>G (p.Lys422Glu) | |
| 12 | g.47844835T>G | CA384514020 | VDR | c.1195A>C (p.Lys399Gln) c.*1197A>C (n.*1197A>C) c.1345A>C (p.Lys449Gln) c.1264A>C (p.Lys422Gln) | |
| 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.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.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=) |