ClinVar Miner

List of variants in gene CASR reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 456
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HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser) rs201328344 0.00012
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) rs201449422 0.00009
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.2870A>G (p.Gln957Arg) rs150979829 0.00006
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys) rs372504955 0.00004
NM_000388.4(CASR):c.308C>T (p.Thr103Ile) rs199734455 0.00004
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp) rs775066593 0.00004
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016 0.00004
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) rs760506005 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) rs201828974 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000388.4(CASR):c.2693G>A (p.Arg898Gln) rs121909269 0.00003
NM_000388.4(CASR):c.2717C>T (p.Thr906Met) rs200357435 0.00003
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn) rs200196962 0.00002
NM_000388.4(CASR):c.1235C>T (p.Thr412Met) rs1473520699 0.00002
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) rs757302986 0.00002
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe) rs942603230 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr) rs766445416 0.00002
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser) rs763865303 0.00002
NM_000388.4(CASR):c.2669G>A (p.Arg890His) rs567996888 0.00002
NM_000388.4(CASR):c.2687G>A (p.Arg896His) rs773552397 0.00002
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp) rs193921082 0.00002
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831 0.00002
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453 0.00002
NM_000388.4(CASR):c.712G>A (p.Asp238Asn) rs373376842 0.00002
NM_000388.4(CASR):c.845A>G (p.Glu282Gly) rs751540983 0.00002
NM_000388.4(CASR):c.1027G>A (p.Val343Ile) rs767003690 0.00001
NM_000388.4(CASR):c.1091C>A (p.Ala364Glu) rs200771541 0.00001
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr) rs1217895146 0.00001
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn) rs768952710 0.00001
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys) rs760190284 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1149G>C (p.Arg383Ser) rs148573275 0.00001
NM_000388.4(CASR):c.1163C>T (p.Ser388Leu) rs377282860 0.00001
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) rs1287075426 0.00001
NM_000388.4(CASR):c.1193A>G (p.Asp398Gly) rs202101164 0.00001
NM_000388.4(CASR):c.1213G>A (p.Glu405Lys) rs868784672 0.00001
NM_000388.4(CASR):c.1283C>T (p.Ala428Val) rs895543540 0.00001
NM_000388.4(CASR):c.1288G>T (p.Ala430Ser) rs201520875 0.00001
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys) rs1230573005 0.00001
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp) rs141315218 0.00001
NM_000388.4(CASR):c.1367A>G (p.Glu456Gly) rs2074639185 0.00001
NM_000388.4(CASR):c.1378G>A (p.Val460Ile) rs753189535 0.00001
NM_000388.4(CASR):c.1389C>A (p.His463Gln) rs201572629 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000388.4(CASR):c.1407T>G (p.Phe469Leu) rs1468055232 0.00001
NM_000388.4(CASR):c.1412A>T (p.Asn471Ile) rs145042469 0.00001
NM_000388.4(CASR):c.1423G>A (p.Glu475Lys) rs1406184611 0.00001
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu) rs1206946808 0.00001
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe) rs202112921 0.00001
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser) rs140347078 0.00001
NM_000388.4(CASR):c.151C>T (p.Leu51Phe) rs996249687 0.00001
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu) rs377233360 0.00001
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) rs199688157 0.00001
NM_000388.4(CASR):c.1609G>A (p.Val537Met) rs1250951106 0.00001
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala) rs199761731 0.00001
NM_000388.4(CASR):c.1826C>T (p.Thr609Met) rs759904153 0.00001
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe) rs201564925 0.00001
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr) rs768660050 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln) rs779019180 0.00001
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys) rs1185593894 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys) rs1196241183 0.00001
NM_000388.4(CASR):c.2102G>A (p.Arg701His) rs1284532044 0.00001
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala) rs1060502844 0.00001
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn) rs746383651 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys) rs771601139 0.00001
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr) rs375468610 0.00001
NM_000388.4(CASR):c.2230T>C (p.Tyr744His) rs1328499732 0.00001
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr) rs562364178 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser) rs777219967 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.249C>G (p.Ser83Arg) rs1262032476 0.00001
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr) rs1418475623 0.00001
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser) rs200777304 0.00001
NM_000388.4(CASR):c.2563A>C (p.Asn855His) rs2074940790 0.00001
NM_000388.4(CASR):c.2597G>A (p.Arg866His) rs387907401 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2680G>A (p.Val894Ile) rs200883282 0.00001
NM_000388.4(CASR):c.2680G>T (p.Val894Phe) rs200883282 0.00001
NM_000388.4(CASR):c.2693G>T (p.Arg898Leu) rs121909269 0.00001
NM_000388.4(CASR):c.2695T>C (p.Ser899Pro) rs201919386 0.00001
NM_000388.4(CASR):c.269A>C (p.Asn90Thr) rs193922439 0.00001
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe) rs1366210816 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro) rs750090767 0.00001
NM_000388.4(CASR):c.2857C>G (p.Gln953Glu) rs542434118 0.00001
NM_000388.4(CASR):c.2871G>C (p.Gln957His) rs988523065 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn) rs1268294939 0.00001
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966 0.00001
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala) rs1381478610 0.00001
NM_000388.4(CASR):c.3079G>A (p.Val1027Ile) rs776184769 0.00001
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp) rs201739901 0.00001
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser) rs762383457 0.00001
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg) rs764032437 0.00001
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp) rs769439564 0.00001
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser) rs557676527 0.00001
NM_000388.4(CASR):c.455C>T (p.Ala152Val) rs761519187 0.00001
NM_000388.4(CASR):c.492+5T>A rs200277155 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.752A>G (p.Glu251Gly) rs140418347 0.00001
NM_000388.4(CASR):c.844G>A (p.Glu282Lys) rs1269873145 0.00001
NM_000388.4(CASR):c.846G>C (p.Glu282Asp) rs199729084 0.00001
NM_000388.4(CASR):c.866C>T (p.Thr289Met) rs755840531 0.00001
NM_000388.4(CASR):c.921G>A (p.Met307Ile) rs751095642 0.00001
NM_000388.4(CASR):c.937G>A (p.Val313Met) rs200838528 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.1008G>C (p.Lys336Asn) rs548403340
NM_000388.4(CASR):c.1009G>T (p.Val337Phe) rs770237878
NM_000388.4(CASR):c.1012C>T (p.His338Tyr)
NM_000388.4(CASR):c.1016C>G (p.Pro339Arg)
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg)
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) rs1576859001
NM_000388.4(CASR):c.1076A>G (p.His359Arg) rs1576859031
NM_000388.4(CASR):c.1076A>T (p.His359Leu) rs1576859031
NM_000388.4(CASR):c.1078C>T (p.Leu360Phe)
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.1091C>T (p.Ala364Val)
NM_000388.4(CASR):c.1097G>T (p.Gly366Val)
NM_000388.4(CASR):c.10T>C (p.Tyr4His) rs1559955224
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) rs2074634402
NM_000388.4(CASR):c.1127G>T (p.Gly376Val) rs2074634579
NM_000388.4(CASR):c.1132G>A (p.Glu378Lys) rs201338034
NM_000388.4(CASR):c.1135G>A (p.Glu379Lys) rs1189291559
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr)
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) rs1553766867
NM_000388.4(CASR):c.1160G>C (p.Ser387Thr)
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1168G>A (p.Ala390Thr) rs202228006
NM_000388.4(CASR):c.1169C>A (p.Ala390Asp) rs757533550
NM_000388.4(CASR):c.1193A>T (p.Asp398Val)
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg) rs755403770
NM_000388.4(CASR):c.1207A>G (p.Ser403Gly)
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala) rs977386230
NM_000388.4(CASR):c.1225A>C (p.Ile409Leu)
NM_000388.4(CASR):c.1225A>G (p.Ile409Val) rs1576859345
NM_000388.4(CASR):c.1232A>C (p.Tyr411Ser)
NM_000388.4(CASR):c.1234A>G (p.Thr412Ala)
NM_000388.4(CASR):c.1238A>T (p.His413Leu) rs1553766896
NM_000388.4(CASR):c.1249T>A (p.Ser417Thr)
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1264T>G (p.Leu422Val)
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr) rs2074637455
NM_000388.4(CASR):c.1279A>C (p.Ile427Leu)
NM_000388.4(CASR):c.1281T>G (p.Ile427Met)
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg)
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu)
NM_000388.4(CASR):c.131T>A (p.Val44Glu) rs2074530498
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe) rs267599574
NM_000388.4(CASR):c.1328T>G (p.Leu443Arg)
NM_000388.4(CASR):c.1334C>G (p.Thr445Ser)
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) rs1553766925
NM_000388.4(CASR):c.1348G>A (p.Ala450Thr)
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.1351G>A (p.Asp451Asn)
NM_000388.4(CASR):c.1360A>G (p.Lys454Glu)
NM_000388.4(CASR):c.1364T>C (p.Val455Ala) rs2107633318
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1396C>T (p.His466Tyr)
NM_000388.4(CASR):c.1405T>G (p.Phe469Val)
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) rs1376231303
NM_000388.4(CASR):c.1426C>A (p.Gln476Lys)
NM_000388.4(CASR):c.1426C>G (p.Gln476Glu)
NM_000388.4(CASR):c.1442A>G (p.Glu481Gly)
NM_000388.4(CASR):c.1443G>C (p.Glu481Asp)
NM_000388.4(CASR):c.1444T>G (p.Cys482Gly)
NM_000388.4(CASR):c.1456G>A (p.Val486Met) rs201829972
NM_000388.4(CASR):c.146A>G (p.Gln49Arg)
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr) rs140347078
NM_000388.4(CASR):c.1489T>G (p.Ser497Ala)
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala) rs1471885969
NM_000388.4(CASR):c.1497G>C (p.Glu499Asp) rs2074813113
NM_000388.4(CASR):c.1498G>A (p.Asp500Asn) rs1156349993
NM_000388.4(CASR):c.149A>T (p.Asp50Val) rs1174370617
NM_000388.4(CASR):c.1500T>A (p.Asp500Glu) rs200240922
NM_000388.4(CASR):c.1502G>C (p.Gly501Ala)
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu) rs2107643628
NM_000388.4(CASR):c.1521A>T (p.Glu507Asp)
NM_000388.4(CASR):c.1522G>A (p.Val508Ile)
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.1537G>A (p.Val513Ile) rs866241407
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg) rs2074814547
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
NM_000388.4(CASR):c.1567A>G (p.Ile523Val) rs2107643730
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys) rs201568219
NM_000388.4(CASR):c.1597T>G (p.Phe533Val)
NM_000388.4(CASR):c.15C>G (p.Ser5Arg)
NM_000388.4(CASR):c.1608+4G>T rs878853974
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1628G>A (p.Ser543Asn)
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr) rs200647941
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe) rs2074897865
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp) rs186279271
NM_000388.4(CASR):c.1668G>T (p.Glu556Asp)
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
NM_000388.4(CASR):c.1696G>A (p.Val566Met)
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) rs1559955229
NM_000388.4(CASR):c.1708G>A (p.Asp570Asn)
NM_000388.4(CASR):c.1712G>A (p.Gly571Glu)
NM_000388.4(CASR):c.1723G>C (p.Asp575His)
NM_000388.4(CASR):c.1733A>T (p.Asp578Val)
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
NM_000388.4(CASR):c.1764C>A (p.Asp588Glu)
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
NM_000388.4(CASR):c.1798G>A (p.Ala600Thr)
NM_000388.4(CASR):c.1799C>A (p.Ala600Asp) rs943822017
NM_000388.4(CASR):c.1808T>A (p.Ile603Asn)
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro) rs2107649441
NM_000388.4(CASR):c.181A>G (p.Ile61Val)
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu) rs1052956823
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg) rs2107649456
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg) rs759904153
NM_000388.4(CASR):c.1841T>C (p.Ile614Thr)
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1850C>T (p.Thr617Ile)
NM_000388.4(CASR):c.1879A>G (p.Thr627Ala)
NM_000388.4(CASR):c.1891C>G (p.Leu631Val) rs755874864
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser) rs2074924501
NM_000388.4(CASR):c.1895G>C (p.Gly632Ala)
NM_000388.4(CASR):c.1906A>G (p.Lys636Glu)
NM_000388.4(CASR):c.1908G>C (p.Lys636Asn)
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys) rs1559968450
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) rs1553768963
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) rs1553768964
NM_000388.4(CASR):c.1963C>G (p.Leu655Val)
NM_000388.4(CASR):c.1979G>A (p.Cys660Tyr)
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr) rs2074927053
NM_000388.4(CASR):c.1987T>G (p.Ser663Ala)
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu) rs1576877276
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser) rs2074927361
NM_000388.4(CASR):c.2005A>G (p.Ile669Val) rs1576877284
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu) rs1576877311
NM_000388.4(CASR):c.2027C>T (p.Thr676Met) rs768204447
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu) rs150869744
NM_000388.4(CASR):c.2080T>C (p.Cys694Arg)
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2123C>T (p.Ala708Val)
NM_000388.4(CASR):c.2140T>C (p.Phe714Leu) rs1576877507
NM_000388.4(CASR):c.2143C>A (p.His715Asn) rs2074932182
NM_000388.4(CASR):c.2143C>T (p.His715Tyr) rs2074932182
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys) rs768333005
NM_000388.4(CASR):c.2153G>C (p.Trp718Ser)
NM_000388.4(CASR):c.2161C>G (p.Leu721Val)
NM_000388.4(CASR):c.2182G>C (p.Val728Leu) rs1576877587
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu) rs1576877611
NM_000388.4(CASR):c.21C>G (p.Cys7Trp)
NM_000388.4(CASR):c.2200A>T (p.Met734Leu) rs1286818613
NM_000388.4(CASR):c.2205G>C (p.Gln735His)
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr) rs759337909
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser) rs375468610
NM_000388.4(CASR):c.2234C>A (p.Thr745Asn)
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly) rs193922434
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) rs777361297
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn)
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys)
NM_000388.4(CASR):c.2296C>A (p.His766Asn) rs776652154
NM_000388.4(CASR):c.2306C>G (p.Ser769Cys)
NM_000388.4(CASR):c.2311A>G (p.Met771Val)
NM_000388.4(CASR):c.2311A>T (p.Met771Leu) rs1576877805
NM_000388.4(CASR):c.2315C>T (p.Ala772Val) rs1336598166
NM_000388.4(CASR):c.2317C>G (p.Leu773Val)
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu) rs767586088
NM_000388.4(CASR):c.237G>C (p.Glu79Asp) rs2074562746
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp) rs2074937924
NM_000388.4(CASR):c.2423C>G (p.Thr808Ser)
NM_000388.4(CASR):c.2452T>C (p.Trp818Arg)
NM_000388.4(CASR):c.2471C>T (p.Ala824Val) rs2074939274
NM_000388.4(CASR):c.2477C>T (p.Ala826Val) rs2074939465
NM_000388.4(CASR):c.2480G>A (p.Ser827Asn)
NM_000388.4(CASR):c.248G>T (p.Ser83Ile)
NM_000388.4(CASR):c.2497G>A (p.Val833Ile)
NM_000388.4(CASR):c.2501C>T (p.Ser834Phe)
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) rs1559956545
NM_000388.4(CASR):c.2527G>A (p.Ala843Thr)
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu) rs373819680
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly) rs373819680
NM_000388.4(CASR):c.2553C>G (p.Cys851Trp)
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser) rs2074940832
NM_000388.4(CASR):c.2569A>T (p.Ile857Phe)
NM_000388.4(CASR):c.2596C>G (p.Arg866Gly)
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys) rs1576878170
NM_000388.4(CASR):c.2603C>A (p.Thr868Asn)
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) rs2074941878
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.265C>A (p.Pro89Thr) rs2074563203
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs) rs1576878270
NM_000388.4(CASR):c.2671C>G (p.Arg891Gly)
NM_000388.4(CASR):c.2680G>C (p.Val894Leu) rs200883282
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) rs1553769171
NM_000388.4(CASR):c.2690A>G (p.Lys897Arg) rs897282559
NM_000388.4(CASR):c.2704C>T (p.Leu902Phe)
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg)
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile)
NM_000388.4(CASR):c.2729C>A (p.Pro910His)
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn)
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup) rs1576878469
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp)
NM_000388.4(CASR):c.2786G>A (p.Arg929Lys)
NM_000388.4(CASR):c.2792A>G (p.Lys931Arg)
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu) rs2107651215
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2818C>A (p.Gln940Lys) rs1576878568
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) rs1576854356
NM_000388.4(CASR):c.2821C>G (p.Gln941Glu) rs2107651279
NM_000388.4(CASR):c.2822A>G (p.Gln941Arg)
NM_000388.4(CASR):c.2825AGC[4] (p.Gln946del)
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup) rs747740545
NM_000388.4(CASR):c.2828A>T (p.Gln943Leu)
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala)
NM_000388.4(CASR):c.2848C>T (p.Leu950Phe)
NM_000388.4(CASR):c.2873A>G (p.Gln958Arg)
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly) rs2074947830
NM_000388.4(CASR):c.2882G>A (p.Arg961Lys)
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) rs1060502859
NM_000388.4(CASR):c.2896G>A (p.Val966Ile)
NM_000388.4(CASR):c.28C>A (p.Leu10Ile) rs1327682547
NM_000388.4(CASR):c.2930T>A (p.Leu977Gln)
NM_000388.4(CASR):c.2930T>G (p.Leu977Arg)
NM_000388.4(CASR):c.2939A>G (p.Asp980Gly)
NM_000388.4(CASR):c.2951A>T (p.Lys984Met)
NM_000388.4(CASR):c.2952G>T (p.Lys984Asn)
NM_000388.4(CASR):c.2954A>C (p.Asn985Thr)
NM_000388.4(CASR):c.2955C>G (p.Asn985Lys)
NM_000388.4(CASR):c.2961G>A (p.Met987Ile)
NM_000388.4(CASR):c.2969G>A (p.Arg990Lys)
NM_000388.4(CASR):c.2985G>C (p.Gln995His) rs201341173
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) rs1244383237
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) rs201052958
NM_000388.4(CASR):c.2999C>T (p.Ala1000Val)
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu) rs1467916973
NM_000388.4(CASR):c.3017C>G (p.Thr1006Arg)
NM_000388.4(CASR):c.3017C>T (p.Thr1006Met)
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln) rs200238591
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly) rs1256856876
NM_000388.4(CASR):c.3029A>G (p.His1010Arg) rs547957679
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) rs763977493
NM_000388.4(CASR):c.3041T>C (p.Leu1014Pro)
NM_000388.4(CASR):c.3044C>T (p.Pro1015Leu)
NM_000388.4(CASR):c.3050A>G (p.Gln1017Arg)
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) rs1060502858
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg) rs759009566
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.3127G>A (p.Glu1043Lys)
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) rs878853977
NM_000388.4(CASR):c.3140C>T (p.Pro1047Leu)
NM_000388.4(CASR):c.3147G>T (p.Glu1049Asp)
NM_000388.4(CASR):c.3169T>G (p.Ser1057Ala)
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
NM_000388.4(CASR):c.3182G>C (p.Ser1061Thr)
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn) rs999978032
NM_000388.4(CASR):c.3196G>A (p.Gly1066Ser)
NM_000388.4(CASR):c.3197G>C (p.Gly1066Ala)
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val) rs769439564
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu) rs2107652105
NM_000388.4(CASR):c.3206G>A (p.Ser1069Asn)
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile) rs1576879357
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) rs748855270
NM_000388.4(CASR):c.338G>C (p.Ser113Thr)
NM_000388.4(CASR):c.350A>G (p.Gln117Arg)
NM_000388.4(CASR):c.355A>G (p.Lys119Glu)
NM_000388.4(CASR):c.38T>C (p.Leu13Pro) rs104893717
NM_000388.4(CASR):c.395C>T (p.Ser132Leu) rs1060502857
NM_000388.4(CASR):c.406C>G (p.Pro136Ala)
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.470T>C (p.Leu157Pro) rs1553766286
NM_000388.4(CASR):c.479T>C (p.Phe160Ser) rs2074566896
NM_000388.4(CASR):c.484A>C (p.Ile162Leu)
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.50C>T (p.Thr17Ile) rs1424489717
NM_000388.4(CASR):c.536A>G (p.Gln179Arg) rs878928634
NM_000388.4(CASR):c.550C>T (p.Leu184Phe) rs1576857982
NM_000388.4(CASR):c.560T>C (p.Ile187Thr)
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) rs778535491
NM_000388.4(CASR):c.566A>T (p.Asn189Ile) rs762998933
NM_000388.4(CASR):c.587C>T (p.Ala196Val) rs1553766728
NM_000388.4(CASR):c.590T>C (p.Met197Thr)
NM_000388.4(CASR):c.592G>A (p.Ala198Thr)
NM_000388.4(CASR):c.596A>T (p.Asp199Val)
NM_000388.4(CASR):c.605A>G (p.Glu202Gly)
NM_000388.4(CASR):c.610T>A (p.Phe204Ile) rs1060499700
NM_000388.4(CASR):c.610T>C (p.Phe204Leu) rs1060499700
NM_000388.4(CASR):c.613C>G (p.Arg205Gly) rs775751453
NM_000388.4(CASR):c.614G>C (p.Arg205Pro) rs763162046
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) rs763162046
NM_000388.4(CASR):c.631A>G (p.Thr211Ala)
NM_000388.4(CASR):c.637G>C (p.Ala213Pro)
NM_000388.4(CASR):c.640G>A (p.Ala214Thr)
NM_000388.4(CASR):c.67G>A (p.Asp23Asn) rs2107624826
NM_000388.4(CASR):c.701A>T (p.Asp234Val)
NM_000388.4(CASR):c.711C>G (p.Ile237Met)
NM_000388.4(CASR):c.718A>G (p.Ser240Gly) rs200878437
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.727A>C (p.Ile243Leu)
NM_000388.4(CASR):c.74G>A (p.Arg25Gln) rs568902441
NM_000388.4(CASR):c.74G>T (p.Arg25Leu) rs568902441
NM_000388.4(CASR):c.750A>C (p.Glu250Asp)
NM_000388.4(CASR):c.753G>C (p.Glu251Asp) rs2074626568
NM_000388.4(CASR):c.754A>T (p.Ile252Phe)
NM_000388.4(CASR):c.755T>A (p.Ile252Asn)
NM_000388.4(CASR):c.767T>C (p.Val256Ala) rs2074626876
NM_000388.4(CASR):c.770A>G (p.Glu257Gly)
NM_000388.4(CASR):c.776T>C (p.Ile259Thr) rs1200068518
NM_000388.4(CASR):c.782A>C (p.Asn261Thr) rs2074627203
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.794A>G (p.Lys265Arg)
NM_000388.4(CASR):c.802G>A (p.Val268Met) rs2074627507
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
NM_000388.4(CASR):c.829G>C (p.Glu277Gln)
NM_000388.4(CASR):c.835C>T (p.Leu279Phe)
NM_000388.4(CASR):c.851T>C (p.Val284Ala)
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
NM_000388.4(CASR):c.916G>A (p.Ala306Thr)
NM_000388.4(CASR):c.926A>C (p.Gln309Pro) rs1576858741
NM_000388.4(CASR):c.933C>A (p.Phe311Leu)
NM_000388.4(CASR):c.936C>G (p.His312Gln) rs1356911586
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) rs1389231880
NM_000388.4(CASR):c.944G>C (p.Gly315Ala)
NM_000388.4(CASR):c.949A>G (p.Thr317Ala)
NM_000388.4(CASR):c.958T>A (p.Phe320Ile)
NM_000388.4(CASR):c.973G>A (p.Gly325Arg)
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) rs2074632178
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029

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