ClinVar Miner

List of variants in gene CASR studied for calcium metabolic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2169
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000388.4(CASR):c.2244= (p.Pro748=) rs1553769059 0.99999
NM_000388.4(CASR):c.2244G>C (p.Pro748=) rs2036400 0.97432
NM_000388.4(CASR):c.*574C>G rs6438718 0.96802
NM_000388.4(CASR):c.3031G>C (p.Glu1011Gln) rs1801726 0.91749
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NC_000003.12:g.122183002G>A rs6776158 0.61708
NM_000388.4(CASR):c.1609-89C>T rs4678174 0.55250
NM_000388.4(CASR):c.*1198T>C rs10190 0.54750
NM_000388.4(CASR):c.*1015A>G rs9740 0.27327
NM_000388.4(CASR):c.*1093C>T rs1802757 0.17297
NM_000388.4(CASR):c.1732+16T>C rs2270916 0.11379
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725 0.10682
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly) rs1042636 0.08688
NM_000388.4(CASR):c.3031= (p.Glu1011=) rs1801726 0.08251
NM_000388.4(CASR):c.*1235A>G rs34042920 0.06757
NM_000388.4(CASR):c.1333A>G (p.Thr445Ala) rs12493789 0.01436
NM_000388.4(CASR):c.2610G>A (p.Glu870=) rs143738711 0.01002
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949 0.00194
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_000388.4(CASR):c.1775A>G (p.Asn592Ser) rs117375173 0.00128
NM_000388.4(CASR):c.-154T>A rs186365367 0.00101
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188 0.00098
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334 0.00073
NM_000388.4(CASR):c.906C>T (p.Ser302=) rs201067850 0.00063
NM_000388.4(CASR):c.*923T>C rs201230484 0.00061
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083 0.00061
NM_000388.4(CASR):c.1192G>A (p.Asp398Asn) rs201177696 0.00052
NM_000388.4(CASR):c.915C>A (p.Ile305=) rs200528343 0.00051
NM_000388.4(CASR):c.1733-9A>G rs190731787 0.00044
NM_000388.4(CASR):c.*1201C>T rs886057837 0.00039
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000388.4(CASR):c.1491C>T (p.Ser497=) rs150337940 0.00035
NM_000388.4(CASR):c.2824G>A (p.Glu942Lys) rs76327999 0.00034
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00027
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_000388.4(CASR):c.2237C>T (p.Ala746Val) rs139417576 0.00021
NM_000388.4(CASR):c.*87C>T rs202045621 0.00020
NM_000388.4(CASR):c.*1193C>T rs886057835 0.00017
NM_000388.4(CASR):c.*1197C>G rs886057836 0.00017
NM_000388.4(CASR):c.*1169C>T rs200652347 0.00016
NM_000388.4(CASR):c.27C>T (p.Val9=) rs141880581 0.00016
NM_000388.4(CASR):c.573G>A (p.Glu191=) rs141631116 0.00016
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) rs202179597 0.00015
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329 0.00014
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177 0.00014
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000388.4(CASR):c.2388G>A (p.Lys796=) rs200701164 0.00012
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser) rs201328344 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_000388.4(CASR):c.-137C>T rs201074178 0.00009
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000388.4(CASR):c.1788C>T (p.Thr596=) rs142778221 0.00009
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr) rs201449422 0.00009
NM_000388.4(CASR):c.2844G>A (p.Leu948=) rs140586950 0.00009
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817 0.00008
NM_000388.4(CASR):c.2356A>G (p.Ile786Val) rs371882068 0.00007
NM_000388.4(CASR):c.2991C>T (p.Ser997=) rs142305357 0.00007
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn) rs201990892 0.00007
NM_000388.4(CASR):c.825T>C (p.Asp275=) rs199836910 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000388.4(CASR):c.-111C>A rs201098532 0.00006
NM_000388.4(CASR):c.1044C>A (p.Ala348=) rs753606065 0.00006
NM_000388.4(CASR):c.1554A>G (p.Gly518=) rs138099808 0.00006
NM_000388.4(CASR):c.1596G>T (p.Gly532=) rs774666667 0.00006
NM_000388.4(CASR):c.2209G>A (p.Val737Ile) rs200318708 0.00006
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.762T>C (p.His254=) rs76438850 0.00006
NM_000388.4(CASR):c.*251G>C rs904222689 0.00005
NM_000388.4(CASR):c.1638C>T (p.Cys546=) rs143047343 0.00005
NM_000388.4(CASR):c.165G>A (p.Pro55=) rs200018529 0.00005
NM_000388.4(CASR):c.2070C>G (p.Leu690=) rs1015701331 0.00005
NM_000388.4(CASR):c.779A>G (p.Gln260Arg) rs200386687 0.00005
NM_000388.4(CASR):c.1378-20C>T rs199644797 0.00004
NM_000388.4(CASR):c.1529A>G (p.Tyr510Cys) rs372504955 0.00004
NM_000388.4(CASR):c.1549A>G (p.Lys517Glu) rs768663095 0.00004
NM_000388.4(CASR):c.1732+11C>A rs1032023222 0.00004
NM_000388.4(CASR):c.1733-13G>C rs568934388 0.00004
NM_000388.4(CASR):c.1827G>A (p.Thr609=) rs200868156 0.00004
NM_000388.4(CASR):c.186-19C>T rs372080345 0.00004
NM_000388.4(CASR):c.1913G>A (p.Arg638His) rs201852643 0.00004
NM_000388.4(CASR):c.1974G>T (p.Leu658=) rs770178952 0.00004
NM_000388.4(CASR):c.2769A>G (p.Pro923=) rs199508670 0.00004
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115 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.453G>A (p.Thr151=) rs201849172 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000388.4(CASR):c.705C>A (p.Ile235=) rs199887150 0.00004
NM_000388.4(CASR):c.867G>A (p.Thr289=) rs368612147 0.00004
NM_000388.4(CASR):c.*103A>C rs199899073 0.00003
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp) rs760506005 0.00003
NM_000388.4(CASR):c.1143C>T (p.Gly381=) rs374835228 0.00003
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn) rs199980578 0.00003
NM_000388.4(CASR):c.1326G>A (p.Gly442=) rs1266818477 0.00003
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr) rs761468327 0.00003
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser) rs146739893 0.00003
NM_000388.4(CASR):c.1479C>T (p.Asn493=) rs201076546 0.00003
NM_000388.4(CASR):c.1668G>A (p.Glu556=) rs186279271 0.00003
NM_000388.4(CASR):c.1733-4A>G rs911114845 0.00003
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu) rs757736220 0.00003
NM_000388.4(CASR):c.2082C>T (p.Cys694=) rs1389988414 0.00003
NM_000388.4(CASR):c.2104G>A (p.Val702Ile) rs201828974 0.00003
NM_000388.4(CASR):c.2265G>T (p.Glu755Asp) rs201366240 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.2919C>T (p.Val973=) rs201569701 0.00003
NM_000388.4(CASR):c.3118C>G (p.Gln1040Glu) rs1007139212 0.00003
NM_000388.4(CASR):c.3148T>C (p.Leu1050=) rs1201397873 0.00003
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly) rs185453682 0.00003
NM_000388.4(CASR):c.493-19T>G rs201735609 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000388.4(CASR):c.787A>G (p.Thr263Ala) rs1161925579 0.00003
NM_000388.4(CASR):c.1023G>T (p.Lys341Asn) rs200196962 0.00002
NM_000388.4(CASR):c.1099C>T (p.Pro367Ser) rs534100808 0.00002
NM_000388.4(CASR):c.1235C>T (p.Thr412Met) rs1473520699 0.00002
NM_000388.4(CASR):c.1377+17T>C rs200650843 0.00002
NM_000388.4(CASR):c.1377G>A (p.Gln459=) rs375297380 0.00002
NM_000388.4(CASR):c.1456G>T (p.Val486Leu) rs201829972 0.00002
NM_000388.4(CASR):c.1732+17T>G rs201033132 0.00002
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp) rs147376568 0.00002
NM_000388.4(CASR):c.1842C>T (p.Ile614=) rs199513106 0.00002
NM_000388.4(CASR):c.1860C>T (p.Ala620=) rs141522130 0.00002
NM_000388.4(CASR):c.1914C>T (p.Arg638=) rs758587851 0.00002
NM_000388.4(CASR):c.1959C>T (p.Leu653=) rs545549211 0.00002
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys) rs757302986 0.00002
NM_000388.4(CASR):c.2145C>T (p.His715=) rs201242061 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.2211C>A (p.Val737=) rs371784919 0.00002
NM_000388.4(CASR):c.2298C>T (p.His766=) rs200723499 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.2761G>A (p.Glu921Lys) rs755629322 0.00002
NM_000388.4(CASR):c.276G>A (p.Thr92=) rs201013419 0.00002
NM_000388.4(CASR):c.2802G>A (p.Gln934=) rs201771940 0.00002
NM_000388.4(CASR):c.2820G>A (p.Gln940=) rs573406193 0.00002
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile) rs774943243 0.00002
NM_000388.4(CASR):c.2928A>T (p.Ser976=) rs772563184 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.445G>A (p.Val149Ile) rs749288251 0.00002
NM_000388.4(CASR):c.57C>T (p.Ala19=) rs761576251 0.00002
NM_000388.4(CASR):c.613C>T (p.Arg205Cys) rs775751453 0.00002
NM_000388.4(CASR):c.675A>G (p.Lys225=) rs202226622 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.873G>C (p.Lys291Asn) rs748306088 0.00002
NM_000388.4(CASR):c.909C>G (p.Ser303=) rs375005541 0.00002
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357 0.00002
NM_000388.4(CASR):c.*1298A>G rs1470056406 0.00001
NM_000388.4(CASR):c.*625G>A rs886057833 0.00001
NM_000388.4(CASR):c.-10C>T rs753659949 0.00001
NM_000388.4(CASR):c.1011C>G (p.Val337=) rs201820733 0.00001
NM_000388.4(CASR):c.1019G>A (p.Arg340Lys) rs768228172 0.00001
NM_000388.4(CASR):c.1027G>A (p.Val343Ile) rs767003690 0.00001
NM_000388.4(CASR):c.1028T>C (p.Val343Ala) rs750427763 0.00001
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.1075C>T (p.His359Tyr) rs1559959592 0.00001
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002 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.1131C>T (p.His377=) rs766231362 0.00001
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg) rs145869851 0.00001
NM_000388.4(CASR):c.1146C>G (p.Asp382Glu) rs1386553525 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.1173C>T (p.Phe391=) rs998012311 0.00001
NM_000388.4(CASR):c.1175G>A (p.Arg392Gln) rs1287075426 0.00001
NM_000388.4(CASR):c.1179C>G (p.Pro393=) rs1553766873 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.118A>G (p.Ile40Val) rs1458833527 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.123T>C (p.His41=) rs1331565057 0.00001
NM_000388.4(CASR):c.1281T>C (p.Ile427=) rs771741512 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.1297G>C (p.Asp433His) rs199511990 0.00001
NM_000388.4(CASR):c.1320G>A (p.Gly440=) rs200243816 0.00001
NM_000388.4(CASR):c.1322G>A (p.Arg441Lys) rs1230573005 0.00001
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn) rs1471887387 0.00001
NM_000388.4(CASR):c.1338T>C (p.Asn446=) rs762799076 0.00001
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp) rs141315218 0.00001
NM_000388.4(CASR):c.1371G>A (p.Ala457=) rs766477389 0.00001
NM_000388.4(CASR):c.1377+14T>C rs1272240293 0.00001
NM_000388.4(CASR):c.1377+15T>G rs1343974175 0.00001
NM_000388.4(CASR):c.1377+5G>T rs2074639584 0.00001
NM_000388.4(CASR):c.1378-6C>T rs765745520 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.1428G>A (p.Gln476=) rs1457255751 0.00001
NM_000388.4(CASR):c.1431G>C (p.Val477=) rs1160830428 0.00001
NM_000388.4(CASR):c.1444T>A (p.Cys482Ser) rs774174934 0.00001
NM_000388.4(CASR):c.1449T>G (p.Gly483=) rs771186654 0.00001
NM_000388.4(CASR):c.1452C>T (p.Asp484=) rs776775141 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.1476C>T (p.Ile492=) rs1576870344 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.1524C>T (p.Val508=) rs868821997 0.00001
NM_000388.4(CASR):c.1525G>A (p.Gly509Arg) rs193922423 0.00001
NM_000388.4(CASR):c.1545C>G (p.Ala515=) rs1158039366 0.00001
NM_000388.4(CASR):c.1548G>A (p.Lys516=) rs1454679281 0.00001
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu) rs377233360 0.00001
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys) rs776534485 0.00001
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys) rs199688157 0.00001
NM_000388.4(CASR):c.1587G>A (p.Leu529=) rs762899043 0.00001
NM_000388.4(CASR):c.1608+3A>G rs2074815932 0.00001
NM_000388.4(CASR):c.1609-27C>T rs4678175 0.00001
NM_000388.4(CASR):c.1609-6C>G rs1423240738 0.00001
NM_000388.4(CASR):c.1609G>A (p.Val537Met) rs1250951106 0.00001
NM_000388.4(CASR):c.1611G>A (p.Val537=) rs1576875688 0.00001
NM_000388.4(CASR):c.1630C>T (p.Arg544Ter) rs886041637 0.00001
NM_000388.4(CASR):c.166G>T (p.Glu56Ter) rs1358793834 0.00001
NM_000388.4(CASR):c.172G>C (p.Val58Leu) rs1161795745 0.00001
NM_000388.4(CASR):c.1732+10C>A rs201859314 0.00001
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp) rs2074921447 0.00001
NM_000388.4(CASR):c.177A>G (p.Glu59=) rs200756928 0.00001
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile) rs1348036340 0.00001
NM_000388.4(CASR):c.1806G>A (p.Glu602=) rs779467828 0.00001
NM_000388.4(CASR):c.1809C>A (p.Ile603=) rs1332311514 0.00001
NM_000388.4(CASR):c.1821G>A (p.Ser607=) rs139515396 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.1839G>A (p.Gly613=) rs1173372329 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.185+10G>A rs201869423 0.00001
NM_000388.4(CASR):c.185+4A>G rs1576852377 0.00001
NM_000388.4(CASR):c.185+5G>C rs554770681 0.00001
NM_000388.4(CASR):c.186-14C>A rs201342859 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.1884C>A (p.Ala628=) rs767444434 0.00001
NM_000388.4(CASR):c.1887T>C (p.Phe629=) rs750220557 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.1923C>T (p.Pro641=) rs368093724 0.00001
NM_000388.4(CASR):c.1924A>G (p.Ile642Val) rs894717560 0.00001
NM_000388.4(CASR):c.1962C>A (p.Leu654=) rs746231094 0.00001
NM_000388.4(CASR):c.2012A>T (p.Glu671Val) rs199957040 0.00001
NM_000388.4(CASR):c.2016C>G (p.Pro672=) rs748910237 0.00001
NM_000388.4(CASR):c.201G>A (p.Gly67=) rs1203051815 0.00001
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg) rs768204447 0.00001
NM_000388.4(CASR):c.2028G>A (p.Thr676=) rs563112343 0.00001
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys) rs1196241183 0.00001
NM_000388.4(CASR):c.2034C>T (p.Arg678=) rs202119951 0.00001
NM_000388.4(CASR):c.2038C>T (p.Arg680Cys) rs767363250 0.00001
NM_000388.4(CASR):c.2039G>A (p.Arg680His) rs773146939 0.00001
NM_000388.4(CASR):c.2046G>A (p.Pro682=) rs760450976 0.00001
NM_000388.4(CASR):c.2048C>T (p.Ala683Val) rs1449068520 0.00001
NM_000388.4(CASR):c.204T>C (p.Phe68=) rs746711010 0.00001
NM_000388.4(CASR):c.206G>A (p.Arg69His) rs193922432 0.00001
NM_000388.4(CASR):c.2102G>A (p.Arg701His) rs1284532044 0.00001
NM_000388.4(CASR):c.2106C>T (p.Val702=) rs1353730603 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.2139C>T (p.Ser713=) rs200384325 0.00001
NM_000388.4(CASR):c.2142C>T (p.Phe714=) rs780374949 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2151G>A (p.Lys717=) rs747627445 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.2239C>T (p.Pro747Ser) rs1576877692 0.00001
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256 0.00001
NM_000388.4(CASR):c.2258A>G (p.Asn753Ser) rs2074934867 0.00001
NM_000388.4(CASR):c.2295C>T (p.Cys765=) rs1232096655 0.00001
NM_000388.4(CASR):c.2301G>A (p.Glu767=) rs769706960 0.00001
NM_000388.4(CASR):c.2314G>A (p.Ala772Thr) rs199508583 0.00001
NM_000388.4(CASR):c.2317C>T (p.Leu773=) rs1244281080 0.00001
NM_000388.4(CASR):c.2328G>A (p.Leu776=) rs750548257 0.00001
NM_000388.4(CASR):c.232A>G (p.Ile78Val) rs769294626 0.00001
NM_000388.4(CASR):c.2331C>T (p.Ile777=) rs760608351 0.00001
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser) rs1479933693 0.00001
NM_000388.4(CASR):c.2334C>T (p.Gly778=) rs1174997420 0.00001
NM_000388.4(CASR):c.2355C>T (p.Ala785=) rs1472693542 0.00001
NM_000388.4(CASR):c.2376C>T (p.Phe792=) rs2074937389 0.00001
NM_000388.4(CASR):c.2383C>T (p.Arg795Trp) rs121909258 0.00001
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu) rs1060502856 0.00001
NM_000388.4(CASR):c.2405A>G (p.Asn802Ser) rs140022350 0.00001
NM_000388.4(CASR):c.2410G>T (p.Ala804Ser) rs777219967 0.00001
NM_000388.4(CASR):c.242T>C (p.Ile81Thr) rs2074562857 0.00001
NM_000388.4(CASR):c.2437A>G (p.Ile813Val) rs746541034 0.00001
NM_000388.4(CASR):c.2442C>T (p.Phe814=) rs200151175 0.00001
NM_000388.4(CASR):c.2448C>T (p.Ile816=) rs781343891 0.00001
NM_000388.4(CASR):c.2499C>T (p.Val833=) rs1240932110 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.2550G>A (p.Ala850=) rs867061333 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.256G>T (p.Ala86Ser) rs1275539972 0.00001
NM_000388.4(CASR):c.2571C>T (p.Ile857=) rs1367231182 0.00001
NM_000388.4(CASR):c.2597G>A (p.Arg866His) rs387907401 0.00001
NM_000388.4(CASR):c.2607C>T (p.Ile869=) rs1258806535 0.00001
NM_000388.4(CASR):c.2613G>A (p.Glu871=) rs1553769147 0.00001
NM_000388.4(CASR):c.2635C>G (p.His879Asp) rs1553769153 0.00001
NM_000388.4(CASR):c.2637C>T (p.His879=) rs1576878230 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000388.4(CASR):c.2656C>A (p.Arg886=) rs1559969429 0.00001
NM_000388.4(CASR):c.2668C>T (p.Arg890Cys) rs548127959 0.00001
NM_000388.4(CASR):c.2672G>A (p.Arg891His) rs533567836 0.00001
NM_000388.4(CASR):c.2677A>G (p.Asn893Asp) rs1392921552 0.00001
NM_000388.4(CASR):c.2679C>T (p.Asn893=) rs756152178 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.2686C>G (p.Arg896Gly) rs749125441 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.2718G>A (p.Thr906=) rs1403590168 0.00001
NM_000388.4(CASR):c.2727C>T (p.Thr909=) rs1259364724 0.00001
NM_000388.4(CASR):c.2735C>T (p.Ser912Phe) rs1366210816 0.00001
NM_000388.4(CASR):c.2738C>T (p.Ser913Phe) rs751273631 0.00001
NM_000388.4(CASR):c.275C>T (p.Thr92Met) rs764023058 0.00001
NM_000388.4(CASR):c.2760C>G (p.Ser920Arg) rs749958063 0.00001
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala) rs201517907 0.00001
NM_000388.4(CASR):c.2791A>C (p.Lys931Gln) rs746005172 0.00001
NM_000388.4(CASR):c.2806C>T (p.Leu936=) rs1396995630 0.00001
NM_000388.4(CASR):c.2807T>A (p.Leu936Gln) rs1379368670 0.00001
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro) rs1293909274 0.00001
NM_000388.4(CASR):c.2829G>A (p.Gln943=) rs764614440 0.00001
NM_000388.4(CASR):c.2838G>A (p.Gln946=) rs774889993 0.00001
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro) rs750090767 0.00001
NM_000388.4(CASR):c.2849T>C (p.Leu950Pro) rs753866409 0.00001
NM_000388.4(CASR):c.2851C>A (p.Pro951Thr) rs4987051 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.2884T>C (p.Cys962Arg) rs758172766 0.00001
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134 0.00001
NM_000388.4(CASR):c.2916G>A (p.Thr972=) rs769047966 0.00001
NM_000388.4(CASR):c.2934C>T (p.Ser978=) rs773041784 0.00001
NM_000388.4(CASR):c.2938G>A (p.Asp980Asn) rs1268294939 0.00001
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly) rs766653315 0.00001
NM_000388.4(CASR):c.2964C>G (p.Ala988=) rs202014330 0.00001
NM_000388.4(CASR):c.2978C>T (p.Thr993Met) rs758227966 0.00001
NM_000388.4(CASR):c.2994G>A (p.Leu998=) rs200260696 0.00001
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn) rs1436155766 0.00001
NM_000388.4(CASR):c.3012C>T (p.Ser1004=) rs1249991104 0.00001
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala) rs1381478610 0.00001
NM_000388.4(CASR):c.3018G>A (p.Thr1006=) rs748637478 0.00001
NM_000388.4(CASR):c.3024C>T (p.Thr1008=) rs773737550 0.00001
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln) rs761030318 0.00001
NM_000388.4(CASR):c.3045G>A (p.Pro1015=) rs533848602 0.00001
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712 0.00001
NM_000388.4(CASR):c.3073C>T (p.Leu1025=) rs747388218 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.3129G>A (p.Glu1043=) rs374529579 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.3156A>C (p.Pro1052=) rs199497544 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.3210T>A (p.Thr1070=) rs1260226810 0.00001
NM_000388.4(CASR):c.3216A>G (p.Thr1072=) rs1259584809 0.00001
NM_000388.4(CASR):c.333C>T (p.Thr111=) rs758877487 0.00001
NM_000388.4(CASR):c.363T>A (p.Asp121Glu) rs201923228 0.00001
NM_000388.4(CASR):c.375T>G (p.Leu125=) rs780725247 0.00001
NM_000388.4(CASR):c.399G>A (p.Glu133=) rs2074565559 0.00001
NM_000388.4(CASR):c.40A>G (p.Thr14Ala) rs199515839 0.00001
NM_000388.4(CASR):c.427G>A (p.Gly143Arg) rs769256610 0.00001
NM_000388.4(CASR):c.444C>T (p.Gly148=) rs1189990883 0.00001
NM_000388.4(CASR):c.455C>T (p.Ala152Val) rs761519187 0.00001
NM_000388.4(CASR):c.466C>T (p.Leu156=) rs1289582344 0.00001
NM_000388.4(CASR):c.492+5T>A rs200277155 0.00001
NM_000388.4(CASR):c.492+6C>A rs765346357 0.00001
NM_000388.4(CASR):c.492+9G>A rs2074567187 0.00001
NM_000388.4(CASR):c.492+9del rs762880287 0.00001
NM_000388.4(CASR):c.493-11G>C rs200769140 0.00001
NM_000388.4(CASR):c.512G>C (p.Ser171Thr) rs1220477298 0.00001
NM_000388.4(CASR):c.514A>C (p.Arg172=) rs201851934 0.00001
NM_000388.4(CASR):c.51C>T (p.Thr17=) rs1483411909 0.00001
NM_000388.4(CASR):c.537A>G (p.Gln179=) rs200129212 0.00001
NM_000388.4(CASR):c.53C>T (p.Ser18Phe) rs749748004 0.00001
NM_000388.4(CASR):c.548T>C (p.Phe183Ser) rs1064794824 0.00001
NM_000388.4(CASR):c.553C>A (p.Arg185=) rs104893707 0.00001
NM_000388.4(CASR):c.572A>G (p.Glu191Gly) rs772067555 0.00001
NM_000388.4(CASR):c.579G>A (p.Gln193=) rs933291696 0.00001
NM_000388.4(CASR):c.614G>A (p.Arg205His) rs763162046 0.00001
NM_000388.4(CASR):c.627G>A (p.Val209=) rs1335382846 0.00001
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657 0.00001
NM_000388.4(CASR):c.656G>A (p.Gly219Glu) rs1237913277 0.00001
NM_000388.4(CASR):c.657G>A (p.Gly219=) rs768101011 0.00001
NM_000388.4(CASR):c.663G>A (p.Pro221=) rs750830429 0.00001
NM_000388.4(CASR):c.681A>G (p.Arg227=) rs766844902 0.00001
NM_000388.4(CASR):c.693G>A (p.Glu231=) rs1348427911 0.00001
NM_000388.4(CASR):c.732C>T (p.Ser244=) rs1366676707 0.00001
NM_000388.4(CASR):c.735G>A (p.Gln245=) rs1362875083 0.00001
NM_000388.4(CASR):c.738C>T (p.Tyr246=) rs895337411 0.00001
NM_000388.4(CASR):c.752A>G (p.Glu251Gly) rs140418347 0.00001
NM_000388.4(CASR):c.759G>A (p.Gln253=) rs2074626789 0.00001
NM_000388.4(CASR):c.780A>G (p.Gln260=) rs1060504734 0.00001
NM_000388.4(CASR):c.813C>A (p.Ser271=) rs759939185 0.00001
NM_000388.4(CASR):c.828T>C (p.Leu276=) rs767726621 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.852C>A (p.Val284=) rs1489604903 0.00001
NM_000388.4(CASR):c.857G>A (p.Arg286His) rs922511747 0.00001
NM_000388.4(CASR):c.866C>T (p.Thr289Met) rs755840531 0.00001
NM_000388.4(CASR):c.882G>A (p.Leu294=) rs371941718 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.939G>A (p.Val313=) rs750302987 0.00001
NM_000388.4(CASR):c.945C>T (p.Gly315=) rs1053891124 0.00001
NM_000388.4(CASR):c.946G>A (p.Gly316Ser) rs755997016 0.00001
NM_000388.4(CASR):c.960C>T (p.Phe320=) rs753011255 0.00001
NM_000388.4(CASR):c.96T>C (p.Ile32=) rs144604474 0.00001
NM_000388.4(CASR):c.970G>A (p.Ala324Thr) rs758569521 0.00001
NM_000388.4(CASR):c.974G>A (p.Gly325Glu) rs193922444 0.00001
NM_000388.4(CASR):c.98T>G (p.Ile33Ser) rs758232331 0.00001
NC_000003.11:g.(?_121973037)_(121973231_?)dup
NC_000003.11:g.(?_121973037)_(122004038_?)del
NC_000003.12:g.(?_122254180)_(122285201_?)dup
NC_000003.12:g.(?_122282103)_(122285191_?)del
NM_000388.4(CASR):c.*1011T>A rs922763349
NM_000388.4(CASR):c.*188dup rs33974189
NM_000388.4(CASR):c.*60A>T rs4677948
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-378del rs537119483
NM_000388.4(CASR):c.1002G>A (p.Leu334=) rs2107632694
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.1010T>C (p.Val337Ala) rs2107632701
NM_000388.4(CASR):c.1012C>T (p.His338Tyr)
NM_000388.4(CASR):c.1014T>C (p.His338=) rs1553766831
NM_000388.4(CASR):c.1016C>T (p.Pro339Leu) rs2074632633
NM_000388.4(CASR):c.1017C>A (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1017C>T (p.Pro339=) rs1465688551
NM_000388.4(CASR):c.1018A>G (p.Arg340Gly) rs1060502853
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1020G>A (p.Arg340=)
NM_000388.4(CASR):c.1022A>G (p.Lys341Arg)
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro) rs2074632920
NM_000388.4(CASR):c.1029C>A (p.Val343=)
NM_000388.4(CASR):c.1032C>T (p.His344=) rs2107632776
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser)
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile) rs1390562571
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg)
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
NM_000388.4(CASR):c.1043C>T (p.Ala348Val) rs1576858988
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu) rs2107632802
NM_000388.4(CASR):c.1044C>T (p.Ala348=)
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu) rs1576859001
NM_000388.4(CASR):c.1048G>T (p.Glu350Ter)
NM_000388.4(CASR):c.104G>A (p.Gly35Glu)
NM_000388.4(CASR):c.1050G>A (p.Glu350=)
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg) rs2107632817
NM_000388.4(CASR):c.1054del (p.Trp352fs) rs2107632814
NM_000388.4(CASR):c.1056G>A (p.Trp352Ter) rs2107632822
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala) rs193922419
NM_000388.4(CASR):c.1062A>G (p.Glu354=)
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala) rs1576859014
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg)
NM_000388.4(CASR):c.1071C>T (p.Asn357=)
NM_000388.4(CASR):c.1074C>T (p.Cys358=) rs886044221
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.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1080C>A (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1080C>G (p.Leu360=) rs2107632855
NM_000388.4(CASR):c.1081C>T (p.Gln361Ter) rs2107632860
NM_000388.4(CASR):c.1084G>A (p.Glu362Lys) rs2107632864
NM_000388.4(CASR):c.1087G>A (p.Gly363Ser) rs757475954
NM_000388.4(CASR):c.1088G>A (p.Gly363Asp) rs2074633801
NM_000388.4(CASR):c.108del (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.108dup (p.Leu37fs) rs886041823
NM_000388.4(CASR):c.1092A>C (p.Ala364=) rs2107632879
NM_000388.4(CASR):c.1096G>A (p.Gly366Arg) rs2074633882
NM_000388.4(CASR):c.10T>C (p.Tyr4His) rs1559955224
NM_000388.4(CASR):c.1100C>A (p.Pro367His)
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu)
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser) rs1576859083
NM_000388.4(CASR):c.1103T>G (p.Leu368Ter)
NM_000388.4(CASR):c.1105C>T (p.Pro369Ser) rs1217895146
NM_000388.4(CASR):c.1108G>A (p.Val370Met) rs2074634164
NM_000388.4(CASR):c.1108G>C (p.Val370Leu)
NM_000388.4(CASR):c.1109T>C (p.Val370Ala)
NM_000388.4(CASR):c.110T>C (p.Leu37Pro)
NM_000388.4(CASR):c.1113C>T (p.Asp371=) rs1320065729
NM_000388.4(CASR):c.1114A>C (p.Thr372Pro) rs571007208
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
NM_000388.4(CASR):c.1114dup (p.Thr372fs)
NM_000388.4(CASR):c.1115C>A (p.Thr372Asn) rs2074634402
NM_000388.4(CASR):c.1115C>T (p.Thr372Ile) rs2074634402
NM_000388.4(CASR):c.1116C>G (p.Thr372=)
NM_000388.4(CASR):c.1116C>T (p.Thr372=) rs539867627
NM_000388.4(CASR):c.111C>T (p.Leu37=) rs2074530079
NM_000388.4(CASR):c.1124G>C (p.Arg375Thr)
NM_000388.4(CASR):c.1124G>T (p.Arg375Ile) rs760190284
NM_000388.4(CASR):c.1126G>A (p.Gly376Ser) rs2107632942
NM_000388.4(CASR):c.1127G>A (p.Gly376Asp)
NM_000388.4(CASR):c.1127G>T (p.Gly376Val) rs2074634579
NM_000388.4(CASR):c.112_113insC (p.Phe38fs) rs2107624936
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.1138A>G (p.Ser380Gly) rs2074634758
NM_000388.4(CASR):c.1143C>A (p.Gly381=) rs374835228
NM_000388.4(CASR):c.1144G>T (p.Asp382Tyr)
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly)
NM_000388.4(CASR):c.1149G>A (p.Arg383=)
NM_000388.4(CASR):c.114T>A (p.Phe38Leu)
NM_000388.4(CASR):c.1154G>A (p.Ser385Asn) rs1553766867
NM_000388.4(CASR):c.1155C>A (p.Ser385Arg)
NM_000388.4(CASR):c.1155C>T (p.Ser385=)
NM_000388.4(CASR):c.1156A>C (p.Asn386His) rs2107632989
NM_000388.4(CASR):c.115C>G (p.Pro39Ala) rs121909262
NM_000388.4(CASR):c.115C>T (p.Pro39Ser) rs121909262
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.1164G>A (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>C (p.Ser388=) rs200898785
NM_000388.4(CASR):c.1164G>T (p.Ser388=)
NM_000388.4(CASR):c.1165A>G (p.Thr389Ala)
NM_000388.4(CASR):c.1166C>G (p.Thr389Arg) rs2107633014
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.1169C>G (p.Ala390Gly) rs757533550
NM_000388.4(CASR):c.1170C>T (p.Ala390=) rs1264660850
NM_000388.4(CASR):c.1172T>C (p.Phe391Ser) rs2074635544
NM_000388.4(CASR):c.1174C>A (p.Arg392=) rs1559959758
NM_000388.4(CASR):c.1174C>T (p.Arg392Ter) rs1559959758
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu) rs1287075426
NM_000388.4(CASR):c.1176A>T (p.Arg392=) rs1576859254
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr) rs2107633043
NM_000388.4(CASR):c.1179C>A (p.Pro393=)
NM_000388.4(CASR):c.1179C>T (p.Pro393=) rs1553766873
NM_000388.4(CASR):c.117T>G (p.Pro39=)
NM_000388.4(CASR):c.1180C>G (p.Leu394Val) rs1559959773
NM_000388.4(CASR):c.1180C>T (p.Leu394Phe) rs1559959773
NM_000388.4(CASR):c.1181T>A (p.Leu394His) rs2107633055
NM_000388.4(CASR):c.1183T>C (p.Cys395Arg) rs1057517712
NM_000388.4(CASR):c.1187C>G (p.Thr396Arg) rs1576859271
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu) rs1210105383
NM_000388.4(CASR):c.1191G>A (p.Gly397=)
NM_000388.4(CASR):c.1192G>T (p.Asp398Tyr) rs201177696
NM_000388.4(CASR):c.1193A>T (p.Asp398Val)
NM_000388.4(CASR):c.1198A>G (p.Asn400Asp)
NM_000388.4(CASR):c.1198A>T (p.Asn400Tyr)
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) rs576643925
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys) rs1171102282
NM_000388.4(CASR):c.1204A>G (p.Ser402Gly)
NM_000388.4(CASR):c.1205G>A (p.Ser402Asn) rs2074636407
NM_000388.4(CASR):c.1206C>G (p.Ser402Arg) rs755403770
NM_000388.4(CASR):c.1207A>C (p.Ser403Arg) rs779219555
NM_000388.4(CASR):c.1209T>C (p.Ser403=) rs387907400
NM_000388.4(CASR):c.1209T>G (p.Ser403Arg) rs387907400
NM_000388.4(CASR):c.1211T>G (p.Val404Gly) rs2074636577
NM_000388.4(CASR):c.1212C>G (p.Val404=) rs967661303
NM_000388.4(CASR):c.1212C>T (p.Val404=) rs967661303
NM_000388.4(CASR):c.1214A>G (p.Glu405Gly) rs2074636705
NM_000388.4(CASR):c.1219C>G (p.Pro407Ala) rs977386230
NM_000388.4(CASR):c.121C>A (p.His41Asn)
NM_000388.4(CASR):c.1224C>T (p.Tyr408=) rs2107633125
NM_000388.4(CASR):c.1225A>G (p.Ile409Val) rs1576859345
NM_000388.4(CASR):c.1226T>C (p.Ile409Thr)
NM_000388.4(CASR):c.1231T>A (p.Tyr411Asn)
NM_000388.4(CASR):c.1231T>G (p.Tyr411Asp)
NM_000388.4(CASR):c.1232A>G (p.Tyr411Cys)
NM_000388.4(CASR):c.1233C>T (p.Tyr411=) rs2107633138
NM_000388.4(CASR):c.1236G>A (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1236G>T (p.Thr412=) rs200443784
NM_000388.4(CASR):c.1237C>T (p.His413Tyr) rs2107633148
NM_000388.4(CASR):c.1238A>T (p.His413Leu) rs1553766896
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln) rs193922421
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1251C>T (p.Ser417=) rs2107633167
NM_000388.4(CASR):c.1254C>T (p.Tyr418=) rs1325695500
NM_000388.4(CASR):c.1257T>C (p.Asn419=) rs1350678512
NM_000388.4(CASR):c.1259T>A (p.Val420Glu)
NM_000388.4(CASR):c.125T>C (p.Phe42Ser) rs1553765909
NM_000388.4(CASR):c.1260G>A (p.Val420=)
NM_000388.4(CASR):c.1264T>G (p.Leu422Val)
NM_000388.4(CASR):c.1267G>A (p.Ala423Thr) rs2074637455
NM_000388.4(CASR):c.1268_1270del (p.Ala423del)
NM_000388.4(CASR):c.1278C>T (p.Ser426=) rs748460866
NM_000388.4(CASR):c.1279A>G (p.Ile427Val) rs2074637558
NM_000388.4(CASR):c.127G>A (p.Gly43Arg) rs866899753
NM_000388.4(CASR):c.1280T>C (p.Ile427Thr) rs1553766906
NM_000388.4(CASR):c.1284C>T (p.Ala428=) rs2107633210
NM_000388.4(CASR):c.1286A>G (p.His429Arg)
NM_000388.4(CASR):c.1287C>A (p.His429Gln) rs746515147
NM_000388.4(CASR):c.1287_1288insA (p.Ala430fs)
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) rs201520875
NM_000388.4(CASR):c.1293G>A (p.Leu431=)
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr) rs1375250506
NM_000388.4(CASR):c.1302A>G (p.Ile434Met) rs2074638026
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe) rs1553766913
NM_000388.4(CASR):c.1305T>C (p.Tyr435=) rs1553766914
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser) rs1553766916
NM_000388.4(CASR):c.1309T>A (p.Cys437Ser) rs1559959958
NM_000388.4(CASR):c.1309T>C (p.Cys437Arg) rs1559959958
NM_000388.4(CASR):c.130G>A (p.Val44Ile) rs2074530467
NM_000388.4(CASR):c.1311C>T (p.Cys437=) rs2107633255
NM_000388.4(CASR):c.1312T>C (p.Leu438=) rs1304302853
NM_000388.4(CASR):c.1316C>A (p.Pro439His) rs2074638314
NM_000388.4(CASR):c.1317T>C (p.Pro439=) rs765170020
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>C (p.Leu443Pro) rs2107633278
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys)
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro)
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile) rs1471887387
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser) rs1553766925
NM_000388.4(CASR):c.1341C>T (p.Gly447=) rs1576859552
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)
NM_000388.4(CASR):c.134C>A (p.Ala45Glu) rs779995504
NM_000388.4(CASR):c.134C>T (p.Ala45Val) rs779995504
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr) rs540006567
NM_000388.4(CASR):c.1354A>G (p.Ile452Val) rs756206452
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)
NM_000388.4(CASR):c.1363G>C (p.Val455Leu) rs2107633315
NM_000388.4(CASR):c.1364T>C (p.Val455Ala) rs2107633318
NM_000388.4(CASR):c.1370C>T (p.Ala457Val) rs1553766930
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys) rs2074639368
NM_000388.4(CASR):c.1376A>G (p.Gln459Arg) rs2107633334
NM_000388.4(CASR):c.1377+13C>T
NM_000388.4(CASR):c.1377+14T>G
NM_000388.4(CASR):c.1377+19T>C rs2074639946
NM_000388.4(CASR):c.1377+1G>A
NM_000388.4(CASR):c.1377+1G>T rs2074639464
NM_000388.4(CASR):c.1377+20A>C
NM_000388.4(CASR):c.1377+2T>A rs78925326
NM_000388.4(CASR):c.1377+3G>A rs199824580
NM_000388.4(CASR):c.1377+4C>G rs1445251048
NM_000388.4(CASR):c.1377+4C>T rs1445251048
NM_000388.4(CASR):c.1377G>T (p.Gln459His)
NM_000388.4(CASR):c.1378-11C>T rs2107643342
NM_000388.4(CASR):c.1378-16C>A
NM_000388.4(CASR):c.1378-16C>G rs200620953
NM_000388.4(CASR):c.1378-1G>C rs2074810403
NM_000388.4(CASR):c.1378-7T>C rs1227939510
NM_000388.4(CASR):c.1378-9C>T
NM_000388.4(CASR):c.1381C>T (p.Leu461=) rs2107643359
NM_000388.4(CASR):c.1382T>A (p.Leu461Gln) rs1553768082
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro) rs1553768082
NM_000388.4(CASR):c.1386G>A (p.Lys462=)
NM_000388.4(CASR):c.1389C>T (p.His463=) rs201572629
NM_000388.4(CASR):c.1390C>G (p.Leu464Val) rs778165189
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg)
NM_000388.4(CASR):c.1392A>G (p.Leu464=) rs2107643383
NM_000388.4(CASR):c.1394G>A (p.Arg465Gln) rs104893716
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)
NM_000388.4(CASR):c.1395G>A (p.Arg465=) rs387907391
NM_000388.4(CASR):c.1395G>C (p.Arg465=)
NM_000388.4(CASR):c.1398T>C (p.His466=) rs760939658
NM_000388.4(CASR):c.139A>G (p.Lys47Glu) rs2107624989
NM_000388.4(CASR):c.1402A>C (p.Asn468His) rs2074810921
NM_000388.4(CASR):c.1405T>G (p.Phe469Val)
NM_000388.4(CASR):c.1406T>G (p.Phe469Cys) rs1376231303
NM_000388.4(CASR):c.1408A>T (p.Thr470Ser) rs2074811205
NM_000388.4(CASR):c.1410A>C (p.Thr470=) rs199886514
NM_000388.4(CASR):c.1415A>C (p.Asn472Thr)
NM_000388.4(CASR):c.1416T>C (p.Asn472=) rs1576870201
NM_000388.4(CASR):c.1417A>G (p.Met473Val) rs2074811389
NM_000388.4(CASR):c.1418T>C (p.Met473Thr) rs2074811449
NM_000388.4(CASR):c.1418T>G (p.Met473Arg)
NM_000388.4(CASR):c.1419G>A (p.Met473Ile) rs1559965073
NM_000388.4(CASR):c.141A>C (p.Lys47Asn) rs104893702
NM_000388.4(CASR):c.1420G>A (p.Gly474Arg) rs2107643437
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln) rs1406184611
NM_000388.4(CASR):c.1425G>A (p.Glu475=) rs2107643445
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp) rs2107643445
NM_000388.4(CASR):c.1429G>A (p.Val477Met) rs1416680566
NM_000388.4(CASR):c.142G>A (p.Asp48Asn)
NM_000388.4(CASR):c.1437T>C (p.Phe479=) rs143360516
NM_000388.4(CASR):c.1439A>T (p.Asp480Val) rs2074811961
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu)
NM_000388.4(CASR):c.1443G>A (p.Glu481=)
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) rs774174934
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe)
NM_000388.4(CASR):c.1449T>C (p.Gly483=) rs771186654
NM_000388.4(CASR):c.1453C>T (p.Leu485=) rs2107643506
NM_000388.4(CASR):c.1455G>A (p.Leu485=)
NM_000388.4(CASR):c.1458G>A (p.Val486=) rs2074812399
NM_000388.4(CASR):c.145C>G (p.Gln49Glu) rs1553765913
NM_000388.4(CASR):c.1463A>T (p.Asn488Ile) rs146739893
NM_000388.4(CASR):c.1464C>T (p.Asn488=)
NM_000388.4(CASR):c.1466A>G (p.Tyr489Cys) rs1553768108
NM_000388.4(CASR):c.1467T>C (p.Tyr489=) rs1576870324
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr) rs140347078
NM_000388.4(CASR):c.147A>G (p.Gln49=)
NM_000388.4(CASR):c.1483C>T (p.His495Tyr)
NM_000388.4(CASR):c.1486C>T (p.Leu496Phe)
NM_000388.4(CASR):c.1487T>C (p.Leu496Pro) rs2107643566
NM_000388.4(CASR):c.1490C>A (p.Ser497Tyr)
NM_000388.4(CASR):c.1491C>A (p.Ser497=) rs150337940
NM_000388.4(CASR):c.1493C>A (p.Pro498Gln)
NM_000388.4(CASR):c.1495G>A (p.Glu499Lys) rs2107643577
NM_000388.4(CASR):c.1496A>C (p.Glu499Ala) rs1471885969
NM_000388.4(CASR):c.1496A>G (p.Glu499Gly)
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>G (p.Asp50Gly) rs1174370617
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.1505C>T (p.Ser502Phe) rs1576870394
NM_000388.4(CASR):c.1506C>A (p.Ser502=) rs1576870401
NM_000388.4(CASR):c.1506C>T (p.Ser502=)
NM_000388.4(CASR):c.1507A>G (p.Ile503Val) rs200910001
NM_000388.4(CASR):c.1507del (p.Ile503fs)
NM_000388.4(CASR):c.1509C>G (p.Ile503Met) rs757499017
NM_000388.4(CASR):c.1509C>T (p.Ile503=) rs757499017
NM_000388.4(CASR):c.1510G>C (p.Val504Leu) rs201536450
NM_000388.4(CASR):c.1512G>A (p.Val504=) rs2074813597
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs) rs193922422
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu) rs2107643628
NM_000388.4(CASR):c.1515T>C (p.Phe505=)
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr) rs750090892
NM_000388.4(CASR):c.1525G>C (p.Gly509Arg) rs193922423
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu) rs1060502845
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala)
NM_000388.4(CASR):c.1527G>A (p.Gly509=) rs2107643649
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp) rs1576870447
NM_000388.4(CASR):c.1536C>T (p.Asn512=) rs887358400
NM_000388.4(CASR):c.1537G>A (p.Val513Ile) rs866241407
NM_000388.4(CASR):c.1539C>T (p.Val513=) rs1553768122
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
NM_000388.4(CASR):c.1542T>C (p.Tyr514=)
NM_000388.4(CASR):c.1542T>G (p.Tyr514Ter) rs2074814252
NM_000388.4(CASR):c.154A>G (p.Lys52Glu)
NM_000388.4(CASR):c.1550A>T (p.Lys517Met) rs2107643696
NM_000388.4(CASR):c.1551G>A (p.Lys517=)
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg) rs2074814547
NM_000388.4(CASR):c.1557A>G (p.Glu519=)
NM_000388.4(CASR):c.1557_1560del (p.Glu519fs) rs2107643705
NM_000388.4(CASR):c.155A>G (p.Lys52Arg) rs1553765922
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
NM_000388.4(CASR):c.1560A>G (p.Arg520=)
NM_000388.4(CASR):c.1561C>G (p.Leu521Val)
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe)
NM_000388.4(CASR):c.1563C>T (p.Leu521=)
NM_000388.4(CASR):c.1564T>G (p.Phe522Val) rs746054548
NM_000388.4(CASR):c.1565T>C (p.Phe522Ser)
NM_000388.4(CASR):c.1565T>G (p.Phe522Cys)
NM_000388.4(CASR):c.1566C>A (p.Phe522Leu) rs769907714
NM_000388.4(CASR):c.1566C>T (p.Phe522=)
NM_000388.4(CASR):c.1567A>G (p.Ile523Val) rs2107643730
NM_000388.4(CASR):c.156A>G (p.Lys52=) rs2107625024
NM_000388.4(CASR):c.1572C>T (p.Asn524=) rs776534485
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala)
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly)
NM_000388.4(CASR):c.1575G>A (p.Glu525=) rs898193456
NM_000388.4(CASR):c.1576G>A (p.Glu526Lys) rs201568219
NM_000388.4(CASR):c.157T>C (p.Ser53Pro) rs2107625030
NM_000388.4(CASR):c.1581A>T (p.Lys527Asn) rs1553768128
NM_000388.4(CASR):c.1592G>A (p.Ser531Asn) rs764669682
NM_000388.4(CASR):c.1592G>C (p.Ser531Thr)
NM_000388.4(CASR):c.1596G>A (p.Gly532=) rs774666667
NM_000388.4(CASR):c.1598T>A (p.Phe533Tyr)
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser) rs2107643782
NM_000388.4(CASR):c.159A>C (p.Ser53=)
NM_000388.4(CASR):c.15_16delinsGG (p.Ser5_Cys6delinsArgGly)
NM_000388.4(CASR):c.1601C>T (p.Ser534Phe)
NM_000388.4(CASR):c.1605G>T (p.Arg535Ser)
NM_000388.4(CASR):c.1606G>A (p.Glu536Lys)
NM_000388.4(CASR):c.1608+10G>A rs2074816255
NM_000388.4(CASR):c.1608+14A>G rs1350749810
NM_000388.4(CASR):c.1608+16C>G
NM_000388.4(CASR):c.1608+1G>A
NM_000388.4(CASR):c.1608+2T>C
NM_000388.4(CASR):c.1608+4G>T rs878853974
NM_000388.4(CASR):c.1608+5G>A rs2107643797
NM_000388.4(CASR):c.1608+5del rs2074816023
NM_000388.4(CASR):c.1608+7G>T
NM_000388.4(CASR):c.1608+9T>A rs1407921987
NM_000388.4(CASR):c.1609-10T>G rs1576875662
NM_000388.4(CASR):c.1609-11C>G
NM_000388.4(CASR):c.1609-13G>A rs1274123257
NM_000388.4(CASR):c.1609-2A>G rs761084315
NM_000388.4(CASR):c.1609-4C>T rs200534176
NM_000388.4(CASR):c.1609-5T>C
NM_000388.4(CASR):c.1609-7C>T
NM_000388.4(CASR):c.1609G>C (p.Val537Leu)
NM_000388.4(CASR):c.1611G>C (p.Val537=) rs1576875688
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr)
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) rs1057518409
NM_000388.4(CASR):c.1620C>T (p.Ser540=) rs1576875710
NM_000388.4(CASR):c.1622A>C (p.Asn541Thr) rs201202700
NM_000388.4(CASR):c.1622A>G (p.Asn541Ser) rs201202700
NM_000388.4(CASR):c.1624_1626del (p.Cys542del) rs1060502846
NM_000388.4(CASR):c.1626C>T (p.Cys542=) rs1576875732
NM_000388.4(CASR):c.1628G>C (p.Ser543Thr) rs1576875740
NM_000388.4(CASR):c.162G>C (p.Arg54Ser) rs2074531100
NM_000388.4(CASR):c.1637G>A (p.Cys546Tyr) rs2107648244
NM_000388.4(CASR):c.1637G>T (p.Cys546Phe) rs2107648244
NM_000388.4(CASR):c.1639C>T (p.Leu547=)
NM_000388.4(CASR):c.163C>T (p.Pro55Ser)
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro) rs2074897267
NM_000388.4(CASR):c.1641G>A (p.Leu547=)
NM_000388.4(CASR):c.1642G>A (p.Ala548Thr) rs200647941
NM_000388.4(CASR):c.1642G>T (p.Ala548Ser) rs200647941
NM_000388.4(CASR):c.1643C>A (p.Ala548Glu)
NM_000388.4(CASR):c.1645G>A (p.Gly549Arg) rs2107648261
NM_000388.4(CASR):c.1646G>A (p.Gly549Glu) rs2107648266
NM_000388.4(CASR):c.1647G>T (p.Gly549=) rs1553768722
NM_000388.4(CASR):c.164C>T (p.Pro55Leu) rs886041154
NM_000388.4(CASR):c.164_165delinsTT (p.Pro55Leu) rs1060502847
NM_000388.4(CASR):c.1652G>A (p.Arg551Lys) rs1060502861
NM_000388.4(CASR):c.1653G>A (p.Arg551=) rs1576875790
NM_000388.4(CASR):c.1657G>A (p.Gly553Arg) rs104893719
NM_000388.4(CASR):c.1658G>T (p.Gly553Val) rs1576875807
NM_000388.4(CASR):c.1660A>T (p.Ile554Phe) rs2074897865
NM_000388.4(CASR):c.1661T>C (p.Ile554Thr) rs2074897929
NM_000388.4(CASR):c.1663A>G (p.Ile555Val) rs777646067
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr) rs1576875819
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1668G>C (p.Glu556Asp) rs186279271
NM_000388.4(CASR):c.1669G>A (p.Gly557Arg) rs2107648307
NM_000388.4(CASR):c.1669G>T (p.Gly557Trp)
NM_000388.4(CASR):c.166del (p.Glu56fs) rs193922424
NM_000388.4(CASR):c.1670G>A (p.Gly557Glu) rs1576875835
NM_000388.4(CASR):c.1671G>A (p.Gly557=)
NM_000388.4(CASR):c.1672dup (p.Glu558fs) rs2107648305
NM_000388.4(CASR):c.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs)
NM_000388.4(CASR):c.1676C>A (p.Pro559His) rs193922425
NM_000388.4(CASR):c.1677C>T (p.Pro559=)
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn) rs768820665
NM_000388.4(CASR):c.167A>T (p.Glu56Val) rs2107625061
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly) rs2074898625
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)
NM_000388.4(CASR):c.1683C>T (p.Cys561=) rs2107648334
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser) rs193922426
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
NM_000388.4(CASR):c.1686C>T (p.Cys562=) rs193922428
NM_000388.4(CASR):c.1687T>C (p.Phe563Leu) rs2074898883
NM_000388.4(CASR):c.1688T>C (p.Phe563Ser) rs1553768731
NM_000388.4(CASR):c.1693T>C (p.Cys565Arg) rs1559967708
NM_000388.4(CASR):c.1693T>G (p.Cys565Gly) rs1559967708
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr) rs1553768736
NM_000388.4(CASR):c.1698G>A (p.Val566=) rs2074899115
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys) rs868390788
NM_000388.4(CASR):c.16T>G (p.Cys6Gly) rs1559955229
NM_000388.4(CASR):c.1701G>A (p.Glu567=)
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly) rs1060502851
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr) rs2107648373
NM_000388.4(CASR):c.1704T>C (p.Cys568=) rs2107648376
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser) rs1271168512
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)
NM_000388.4(CASR):c.1713G>A (p.Gly571=) rs200878919
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln) rs2107648387
NM_000388.4(CASR):c.1716G>A (p.Glu572=) rs946945741
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn) rs2074899710
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp) rs2074899858
NM_000388.4(CASR):c.1732+10C>T rs201859314
NM_000388.4(CASR):c.1732+12C>A
NM_000388.4(CASR):c.1732+12C>T rs1336922681
NM_000388.4(CASR):c.1732+13C>T
NM_000388.4(CASR):c.1732+15C>T
NM_000388.4(CASR):c.1732+15_1732+16delinsAC rs2107648439
NM_000388.4(CASR):c.1732+1_1732+10delinsTG rs1064792970
NM_000388.4(CASR):c.1732+20G>T
NM_000388.4(CASR):c.1732+6G>A
NM_000388.4(CASR):c.1732+6G>T
NM_000388.4(CASR):c.1732+7G>C
NM_000388.4(CASR):c.1732+9A>G rs2074900202
NM_000388.4(CASR):c.1733-10C>T rs1559968171
NM_000388.4(CASR):c.1733-12G>A rs2107649328
NM_000388.4(CASR):c.1733-13G>A
NM_000388.4(CASR):c.1733-16C>T
NM_000388.4(CASR):c.1733-7T>A rs2074920505
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly) rs2107649336
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
NM_000388.4(CASR):c.1744T>A (p.Cys582Ser) rs2074920676
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg)
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1745G>T (p.Cys582Phe) rs104893690
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser) rs2074920846
NM_000388.4(CASR):c.1749C>T (p.Asn583=)
NM_000388.4(CASR):c.1751A>C (p.Lys584Thr)
NM_000388.4(CASR):c.1753T>A (p.Cys585Ser)
NM_000388.4(CASR):c.1755C>G (p.Cys585Trp)
NM_000388.4(CASR):c.1758A>G (p.Pro586=)
NM_000388.4(CASR):c.1759dup (p.Asp587fs) rs2107649366
NM_000388.4(CASR):c.175G>A (p.Glu59Lys) rs2107625081
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu)
NM_000388.4(CASR):c.1764C>T (p.Asp588=)
NM_000388.4(CASR):c.1767C>T (p.Phe589=) rs1465788605
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe)
NM_000388.4(CASR):c.1773_1774del (p.Ser591_Asn592insTer) rs2107649385
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile)
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys) rs2107649392
NM_000388.4(CASR):c.1782C>T (p.Asn594=)
NM_000388.4(CASR):c.1783del (p.His595fs) rs2107649406
NM_000388.4(CASR):c.1786A>C (p.Thr596Pro)
NM_000388.4(CASR):c.1787CCT[1] (p.Ser597del)
NM_000388.4(CASR):c.1789T>C (p.Ser597Pro) rs1553768903
NM_000388.4(CASR):c.1793G>A (p.Cys598Tyr) rs2107649418
NM_000388.4(CASR):c.1796T>C (p.Ile599Thr) rs2107649420
NM_000388.4(CASR):c.179G>T (p.Cys60Phe) rs772906030
NM_000388.4(CASR):c.1800C>G (p.Ala600=)
NM_000388.4(CASR):c.1802del (p.Lys601fs) rs2107649423
NM_000388.4(CASR):c.1803G>A (p.Lys601=) rs2074922113
NM_000388.4(CASR):c.1803G>C (p.Lys601Asn)
NM_000388.4(CASR):c.1809C>T (p.Ile603=) rs1332311514
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys) rs104893712
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro) rs2107649441
NM_000388.4(CASR):c.1818G>A (p.Leu606=)
NM_000388.4(CASR):c.181A>C (p.Ile61Leu) rs2074531605
NM_000388.4(CASR):c.1820C>A (p.Ser607Ter)
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.1824G>C (p.Trp608Cys)
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys) rs759904153
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg) rs759904153
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser)
NM_000388.4(CASR):c.1835T>C (p.Phe612Ser) rs104893698
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg) rs1060502842
NM_000388.4(CASR):c.1838G>A (p.Gly613Glu)
NM_000388.4(CASR):c.183C>T (p.Ile61=) rs2074531684
NM_000388.4(CASR):c.1842C>G (p.Ile614Met) rs199513106
NM_000388.4(CASR):c.1843G>C (p.Ala615Pro)
NM_000388.4(CASR):c.1843G>T (p.Ala615Ser)
NM_000388.4(CASR):c.1844C>T (p.Ala615Val)
NM_000388.4(CASR):c.1846C>G (p.Leu616Val) rs104893703
NM_000388.4(CASR):c.1847_1850del (p.Leu616fs)
NM_000388.4(CASR):c.1848C>A (p.Leu616=) rs2107649505
NM_000388.4(CASR):c.184A>C (p.Arg62=)
NM_000388.4(CASR):c.185+10G>T rs201869423
NM_000388.4(CASR):c.185+11G>A
NM_000388.4(CASR):c.185+12G>A
NM_000388.4(CASR):c.185+13G>A
NM_000388.4(CASR):c.185+15C>A rs199849269
NM_000388.4(CASR):c.185+15C>G rs199849269
NM_000388.4(CASR):c.185+15C>T
NM_000388.4(CASR):c.185+17A>G rs2107625126
NM_000388.4(CASR):c.185+1G>A
NM_000388.4(CASR):c.185+20C>T
NM_000388.4(CASR):c.185+5_185+18del rs1576852370
NM_000388.4(CASR):c.185+7_185+9del rs1576852373
NM_000388.4(CASR):c.185+9_185+10del rs2107625112
NM_000388.4(CASR):c.1851C>A (p.Thr617=) rs1553768940
NM_000388.4(CASR):c.1852C>G (p.Leu618Val) rs2074923685
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe)
NM_000388.4(CASR):c.1852del (p.Leu618fs) rs2107649518
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.1854C>T (p.Leu618=) rs1553768941
NM_000388.4(CASR):c.185G>A (p.Arg62Lys)
NM_000388.4(CASR):c.185G>T (p.Arg62Met) rs121909265
NM_000388.4(CASR):c.186-10T>C rs2107627405
NM_000388.4(CASR):c.186-13T>G
NM_000388.4(CASR):c.186-15T>C
NM_000388.4(CASR):c.186-16T>G rs2107627398
NM_000388.4(CASR):c.186-17CTT[2] rs769243052
NM_000388.4(CASR):c.186-18A>G
NM_000388.4(CASR):c.186-1G>A
NM_000388.4(CASR):c.186-1G>C
NM_000388.4(CASR):c.186-1G>T rs797044441
NM_000388.4(CASR):c.186-2A>G rs1350886416
NM_000388.4(CASR):c.186-3C>T
NM_000388.4(CASR):c.186-4C>A
NM_000388.4(CASR):c.186-8T>C rs2107627408
NM_000388.4(CASR):c.1860C>G (p.Ala620=) rs141522130
NM_000388.4(CASR):c.1861G>C (p.Val621Leu)
NM_000388.4(CASR):c.1864C>T (p.Leu622=)
NM_000388.4(CASR):c.1868G>A (p.Gly623Asp) rs2107649545
NM_000388.4(CASR):c.1868G>C (p.Gly623Ala) rs2107649545
NM_000388.4(CASR):c.1868del (p.Gly623fs) rs2074923990
NM_000388.4(CASR):c.186G>A (p.Arg62=) rs1414007336
NM_000388.4(CASR):c.1876C>A (p.Leu626Met) rs2107649551
NM_000388.4(CASR):c.1878G>A (p.Leu626=)
NM_000388.4(CASR):c.1880C>A (p.Thr627Lys) rs2074924073
NM_000388.4(CASR):c.1880C>T (p.Thr627Ile) rs2074924073
NM_000388.4(CASR):c.1884C>T (p.Ala628=)
NM_000388.4(CASR):c.1884del (p.Phe629fs) rs193922429
NM_000388.4(CASR):c.1888G>A (p.Val630Met) rs1559968392
NM_000388.4(CASR):c.1888G>C (p.Val630Leu) rs1559968392
NM_000388.4(CASR):c.1888G>T (p.Val630Leu)
NM_000388.4(CASR):c.188A>G (p.Tyr63Cys) rs1291192328
NM_000388.4(CASR):c.1891C>G (p.Leu631Val) rs755874864
NM_000388.4(CASR):c.1891C>T (p.Leu631=)
NM_000388.4(CASR):c.1893G>A (p.Leu631=) rs2107649583
NM_000388.4(CASR):c.1894G>A (p.Gly632Ser) rs2074924501
NM_000388.4(CASR):c.1898T>A (p.Val633Glu)
NM_000388.4(CASR):c.1898T>G (p.Val633Gly)
NM_000388.4(CASR):c.1898_1932dup (p.Ala645fs) rs2074924614
NM_000388.4(CASR):c.189T>A (p.Tyr63Ter)
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.1902dup (p.Ile635fs)
NM_000388.4(CASR):c.1903A>C (p.Ile635Leu) rs2074924739
NM_000388.4(CASR):c.1903A>G (p.Ile635Val) rs2074924739
NM_000388.4(CASR):c.1908G>A (p.Lys636=)
NM_000388.4(CASR):c.190A>G (p.Asn64Asp) rs2107627423
NM_000388.4(CASR):c.1911C>G (p.Phe637Leu) rs2074924937
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1914C>A (p.Arg638=)
NM_000388.4(CASR):c.1916A>G (p.Asn639Ser) rs1559968444
NM_000388.4(CASR):c.1916A>T (p.Asn639Ile)
NM_000388.4(CASR):c.1918A>G (p.Thr640Ala)
NM_000388.4(CASR):c.1919C>A (p.Thr640Lys) rs1559968450
NM_000388.4(CASR):c.1919C>T (p.Thr640Ile) rs1559968450
NM_000388.4(CASR):c.1925T>C (p.Ile642Thr) rs2107649633
NM_000388.4(CASR):c.1927G>A (p.Val643Ile)
NM_000388.4(CASR):c.192T>C (p.Asn64=)
NM_000388.4(CASR):c.1932G>A (p.Lys644=)
NM_000388.4(CASR):c.1935C>T (p.Ala645=)
NM_000388.4(CASR):c.1936A>G (p.Thr646Ala) rs200113544
NM_000388.4(CASR):c.193T>A (p.Phe65Ile)
NM_000388.4(CASR):c.1941C>A (p.Asn647Lys)
NM_000388.4(CASR):c.1941C>T (p.Asn647=)
NM_000388.4(CASR):c.1942C>A (p.Arg648=) rs104893705
NM_000388.4(CASR):c.1942C>G (p.Arg648Gly)
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln) rs757736220
NM_000388.4(CASR):c.1944A>C (p.Arg648=) rs2074925850
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe) rs1553768963
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) rs2107649656
NM_000388.4(CASR):c.1951T>C (p.Ser651Pro) rs2074926028
NM_000388.4(CASR):c.1952C>A (p.Ser651Tyr) rs2074926080
NM_000388.4(CASR):c.1952C>T (p.Ser651Phe) rs2074926080
NM_000388.4(CASR):c.1957C>T (p.Leu653Phe) rs1553768964
NM_000388.4(CASR):c.1960C>T (p.Leu654Phe) rs1553768966
NM_000388.4(CASR):c.1962C>T (p.Leu654=) rs746231094
NM_000388.4(CASR):c.1963C>G (p.Leu655Val)
NM_000388.4(CASR):c.1965C>G (p.Leu655=) rs1339304346
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu) rs2074926557
NM_000388.4(CASR):c.196C>T (p.Arg66Cys) rs121909266
NM_000388.4(CASR):c.1972C>A (p.Leu658Met) rs201609857
NM_000388.4(CASR):c.1972C>T (p.Leu658=)
NM_000388.4(CASR):c.1972del (p.Leu658fs) rs1553768972
NM_000388.4(CASR):c.1974G>A (p.Leu658=)
NM_000388.4(CASR):c.1977C>G (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.1977C>T (p.Leu659=) rs1576877263
NM_000388.4(CASR):c.197G>A (p.Arg66His) rs1276839362
NM_000388.4(CASR):c.197G>T (p.Arg66Leu) rs1276839362
NM_000388.4(CASR):c.1981T>A (p.Cys661Ser) rs2107649710
NM_000388.4(CASR):c.1983C>A (p.Cys661Ter) rs2074926931
NM_000388.4(CASR):c.1984T>G (p.Phe662Val)
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr) rs2074927053
NM_000388.4(CASR):c.1998G>C (p.Leu666=)
NM_000388.4(CASR):c.1999T>C (p.Phe667Leu) rs1576877276
NM_000388.4(CASR):c.1999TTC[1] (p.Phe668del) rs2074927295
NM_000388.4(CASR):c.199delinsTTCGCT (p.Gly67fs) rs1559956508
NM_000388.4(CASR):c.1A>G (p.Met1Val) rs2107624704
NM_000388.4(CASR):c.2000T>C (p.Phe667Ser) rs2074927361
NM_000388.4(CASR):c.2004C>T (p.Phe668=) rs2107649757
NM_000388.4(CASR):c.2005A>C (p.Ile669Leu) rs1576877284
NM_000388.4(CASR):c.2005A>G (p.Ile669Val) rs1576877284
NM_000388.4(CASR):c.2006T>C (p.Ile669Thr) rs2107649763
NM_000388.4(CASR):c.2007C>T (p.Ile669=) rs967478601
NM_000388.4(CASR):c.2008G>A (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2008G>C (p.Gly670Arg) rs2074927550
NM_000388.4(CASR):c.2009G>T (p.Gly670Val) rs104893700
NM_000388.4(CASR):c.2010_2011del (p.Glu671fs) rs2074927630
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr) rs193922431
NM_000388.4(CASR):c.2014C>T (p.Pro672Ser) rs193922431
NM_000388.4(CASR):c.2015C>G (p.Pro672Arg) rs2107649789
NM_000388.4(CASR):c.2015C>T (p.Pro672Leu)
NM_000388.4(CASR):c.2018A>G (p.Gln673Arg) rs1576877306
NM_000388.4(CASR):c.2019G>C (p.Gln673His) rs2107649800
NM_000388.4(CASR):c.2021A>T (p.Asp674Val) rs2107649801
NM_000388.4(CASR):c.2022C>A (p.Asp674Glu) rs1576877311
NM_000388.4(CASR):c.2023T>C (p.Trp675Arg) rs2107649805
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter)
NM_000388.4(CASR):c.2026A>T (p.Thr676Ser) rs2074927990
NM_000388.4(CASR):c.2027C>T (p.Thr676Met) rs768204447
NM_000388.4(CASR):c.2028G>C (p.Thr676=)
NM_000388.4(CASR):c.2030del (p.Cys677fs) rs2107649818
NM_000388.4(CASR):c.2033G>A (p.Arg678His) rs1278025825
NM_000388.4(CASR):c.2036T>C (p.Leu679Pro) rs1553768983
NM_000388.4(CASR):c.2036T>G (p.Leu679Arg) rs1553768983
NM_000388.4(CASR):c.2043G>T (p.Gln681His) rs121909261
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2045del (p.Pro682fs)
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)
NM_000388.4(CASR):c.2049C>A (p.Ala683=)
NM_000388.4(CASR):c.2054G>A (p.Gly685Asp)
NM_000388.4(CASR):c.2054G>C (p.Gly685Ala) rs1576877377
NM_000388.4(CASR):c.2056A>G (p.Ile686Val) rs753013993
NM_000388.4(CASR):c.2058C>T (p.Ile686=) rs2107649875
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2061C>A (p.Ser687Arg) rs2074930161
NM_000388.4(CASR):c.2063T>C (p.Phe688Ser)
NM_000388.4(CASR):c.2063T>G (p.Phe688Cys)
NM_000388.4(CASR):c.2064C>G (p.Phe688Leu) rs150869744
NM_000388.4(CASR):c.2064_2065delinsTA (p.Val689Met)
NM_000388.4(CASR):c.2065G>A (p.Val689Met) rs2107649885
NM_000388.4(CASR):c.2068C>T (p.Leu690Phe) rs1467832380
NM_000388.4(CASR):c.2072G>C (p.Cys691Ser)
NM_000388.4(CASR):c.2074A>G (p.Ile692Val)
NM_000388.4(CASR):c.2076C>T (p.Ile692=) rs1553768999
NM_000388.4(CASR):c.2079A>C (p.Ser693=)
NM_000388.4(CASR):c.2083_2106dup (p.Ile695_Val702dup) rs1553769002
NM_000388.4(CASR):c.2084T>C (p.Ile695Thr) rs2107649915
NM_000388.4(CASR):c.2085C>G (p.Ile695Met) rs2074930623
NM_000388.4(CASR):c.2087T>A (p.Leu696Gln) rs2107649925
NM_000388.4(CASR):c.2095A>C (p.Thr699Pro)
NM_000388.4(CASR):c.2096C>T (p.Thr699Ile) rs2107649929
NM_000388.4(CASR):c.2097C>T (p.Thr699=) rs1576877434
NM_000388.4(CASR):c.2099A>G (p.Asn700Ser) rs1576877437
NM_000388.4(CASR):c.209G>A (p.Trp70Ter) rs2107627458
NM_000388.4(CASR):c.209G>C (p.Trp70Ser)
NM_000388.4(CASR):c.20G>A (p.Cys7Tyr) rs2074528024
NM_000388.4(CASR):c.20G>C (p.Cys7Ser) rs2074528024
NM_000388.4(CASR):c.20G>T (p.Cys7Phe) rs2074528024
NM_000388.4(CASR):c.2100C>T (p.Asn700=)
NM_000388.4(CASR):c.2101C>A (p.Arg701Ser) rs757302986
NM_000388.4(CASR):c.2105T>C (p.Val702Ala) rs1559968643
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2109C>G (p.Leu703=)
NM_000388.4(CASR):c.2111T>C (p.Leu704Pro) rs1559968657
NM_000388.4(CASR):c.2114T>C (p.Val705Ala)
NM_000388.4(CASR):c.2114_2122del (p.Val705_Glu707del)
NM_000388.4(CASR):c.2118T>C (p.Phe706=)
NM_000388.4(CASR):c.2122G>A (p.Ala708Thr) rs2074931493
NM_000388.4(CASR):c.2127G>A (p.Lys709=)
NM_000388.4(CASR):c.2130C>A (p.Ile710=)
NM_000388.4(CASR):c.2130C>T (p.Ile710=) rs2107649987
NM_000388.4(CASR):c.2130_2131delinsAA (p.Pro711Thr) rs2074931664
NM_000388.4(CASR):c.2131C>T (p.Pro711Ser)
NM_000388.4(CASR):c.2135C>G (p.Thr712Ser) rs746383651
NM_000388.4(CASR):c.213A>G (p.Leu71=)
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>G (p.Arg716Gly) rs768333005
NM_000388.4(CASR):c.2146C>T (p.Arg716Cys) rs768333005
NM_000388.4(CASR):c.2147G>C (p.Arg716Pro) rs201670662
NM_000388.4(CASR):c.2148C>T (p.Arg716=) rs2107650027
NM_000388.4(CASR):c.2148dup (p.Lys717fs) rs2107650029
NM_000388.4(CASR):c.2151G>C (p.Lys717Asn)
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu) rs961879608
NM_000388.4(CASR):c.2154G>C (p.Trp718Cys) rs2074932551
NM_000388.4(CASR):c.2156G>A (p.Trp719Ter) rs2107650046
NM_000388.4(CASR):c.2158G>A (p.Gly720Arg) rs2074932631
NM_000388.4(CASR):c.2159G>A (p.Gly720Glu)
NM_000388.4(CASR):c.2160G>A (p.Gly720=) rs1447996348
NM_000388.4(CASR):c.2163C>T (p.Leu721=) rs1427860271
NM_000388.4(CASR):c.2167C>T (p.Leu723=) rs2107650065
NM_000388.4(CASR):c.2168T>G (p.Leu723Arg) rs2107650069
NM_000388.4(CASR):c.2179C>T (p.Leu727=) rs1177992998
NM_000388.4(CASR):c.2180T>A (p.Leu727Gln) rs104893718
NM_000388.4(CASR):c.2181G>A (p.Leu727=)
NM_000388.4(CASR):c.2182G>A (p.Val728Ile) rs1576877587
NM_000388.4(CASR):c.2182G>C (p.Val728Leu) rs1576877587
NM_000388.4(CASR):c.2182G>T (p.Val728Phe)
NM_000388.4(CASR):c.2184T>A (p.Val728=)
NM_000388.4(CASR):c.2185T>C (p.Phe729Leu)
NM_000388.4(CASR):c.2187C>T (p.Phe729=)
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe)
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser)
NM_000388.4(CASR):c.2193C>T (p.Cys731=)
NM_000388.4(CASR):c.2194A>G (p.Thr732Ala) rs1576877607
NM_000388.4(CASR):c.2199C>A (p.Phe733Leu) rs1576877611
NM_000388.4(CASR):c.21C>T (p.Cys7=) rs1381043518
NM_000388.4(CASR):c.2200A>T (p.Met734Leu) rs1286818613
NM_000388.4(CASR):c.2202G>A (p.Met734Ile) rs542541990
NM_000388.4(CASR):c.2203C>A (p.Gln735Lys) rs1553769052
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro)
NM_000388.4(CASR):c.220A>G (p.Met74Val) rs745377913
NM_000388.4(CASR):c.2211C>T (p.Val737=)
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.2229C>G (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe) rs751816764
NM_000388.4(CASR):c.2235C>G (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2235C>T (p.Thr745=) rs201702964
NM_000388.4(CASR):c.2238G>A (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2238G>T (p.Ala746=) rs149557554
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala) rs1576877692
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
NM_000388.4(CASR):c.2241C>G (p.Pro747=) rs1559968833
NM_000388.4(CASR):c.2242C>T (p.Pro748Ser) rs2074934184
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln) rs193922433
NM_000388.4(CASR):c.2243C>G (p.Pro748Arg) rs193922433
NM_000388.4(CASR):c.2243C>T (p.Pro748Leu) rs193922433
NM_000388.4(CASR):c.2244G>A (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2244G>T (p.Pro748=) rs2036400
NM_000388.4(CASR):c.2244_2245delinsCG (p.Ser749Ala) rs2107650178
NM_000388.4(CASR):c.2244del (p.Ser749fs)
NM_000388.4(CASR):c.2247A>C (p.Ser749=)
NM_000388.4(CASR):c.2248A>G (p.Ser750Gly)
NM_000388.4(CASR):c.224T>C (p.Ile75Thr) rs2107627470
NM_000388.4(CASR):c.2250C>A (p.Ser750Arg) rs1559968879
NM_000388.4(CASR):c.2253C>T (p.Tyr751=)
NM_000388.4(CASR):c.2254C>A (p.Arg752Ser) rs193922434
NM_000388.4(CASR):c.2254C>G (p.Arg752Gly) rs193922434
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2254del (p.Arg752fs) rs2107650195
NM_000388.4(CASR):c.2255G>C (p.Arg752Pro) rs771529256
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro) rs777361297
NM_000388.4(CASR):c.2262G>A (p.Gln754=) rs1487359017
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly) rs2074935054
NM_000388.4(CASR):c.2265G>A (p.Glu755=) rs201366240
NM_000388.4(CASR):c.2268G>A (p.Leu756=) rs2107650239
NM_000388.4(CASR):c.2269G>A (p.Glu757Lys) rs2074935149
NM_000388.4(CASR):c.2272G>A (p.Asp758Asn)
NM_000388.4(CASR):c.2275G>A (p.Glu759Lys)
NM_000388.4(CASR):c.2278A>G (p.Ile760Val) rs1453953571
NM_000388.4(CASR):c.2278A>T (p.Ile760Phe) rs1453953571
NM_000388.4(CASR):c.2280C>A (p.Ile760=) rs1553769074
NM_000388.4(CASR):c.2280C>G (p.Ile760Met) rs1553769074
NM_000388.4(CASR):c.2281A>C (p.Ile761Leu)
NM_000388.4(CASR):c.2282T>A (p.Ile761Asn)
NM_000388.4(CASR):c.2282T>C (p.Ile761Thr)
NM_000388.4(CASR):c.2287A>C (p.Ile763Leu)
NM_000388.4(CASR):c.2288T>G (p.Ile763Ser)
NM_000388.4(CASR):c.2290A>C (p.Thr764Pro) rs2074935297
NM_000388.4(CASR):c.2291C>T (p.Thr764Met)
NM_000388.4(CASR):c.2292G>A (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>C (p.Thr764=) rs199615189
NM_000388.4(CASR):c.2292G>T (p.Thr764=)
NM_000388.4(CASR):c.2293T>C (p.Cys765Arg) rs1363412937
NM_000388.4(CASR):c.2296C>A (p.His766Asn) rs776652154
NM_000388.4(CASR):c.2296C>T (p.His766Tyr) rs776652154
NM_000388.4(CASR):c.2297_2298dup (p.Glu767fs) rs2107650280
NM_000388.4(CASR):c.2298C>G (p.His766Gln)
NM_000388.4(CASR):c.2299G>A (p.Glu767Lys) rs2074935748
NM_000388.4(CASR):c.229G>T (p.Ala77Ser) rs2074562595
NM_000388.4(CASR):c.2300A>C (p.Glu767Ala) rs2107650290
NM_000388.4(CASR):c.2304C>G (p.Gly768=) rs1576877799
NM_000388.4(CASR):c.2315C>T (p.Ala772Val) rs1336598166
NM_000388.4(CASR):c.2318T>G (p.Leu773Arg) rs104893699
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
NM_000388.4(CASR):c.2322C>A (p.Gly774=)
NM_000388.4(CASR):c.2323T>G (p.Phe775Val)
NM_000388.4(CASR):c.2324T>C (p.Phe775Ser)
NM_000388.4(CASR):c.2325C>G (p.Phe775Leu) rs767586088
NM_000388.4(CASR):c.2326C>T (p.Leu776=)
NM_000388.4(CASR):c.2329A>C (p.Ile777Leu) rs2074936383
NM_000388.4(CASR):c.2330T>C (p.Ile777Thr)
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2332G>T (p.Gly778Cys)
NM_000388.4(CASR):c.2333G>A (p.Gly778Asp) rs2074936560
NM_000388.4(CASR):c.2337C>T (p.Tyr779=)
NM_000388.4(CASR):c.2339C>A (p.Thr780Asn) rs754332943
NM_000388.4(CASR):c.2339C>G (p.Thr780Ser) rs754332943
NM_000388.4(CASR):c.2339C>T (p.Thr780Ile) rs754332943
NM_000388.4(CASR):c.233T>C (p.Ile78Thr) rs2074562667
NM_000388.4(CASR):c.2341T>A (p.Cys781Ser) rs2107650358
NM_000388.4(CASR):c.2343C>T (p.Cys781=) rs1553769084
NM_000388.4(CASR):c.2346G>C (p.Leu782=)
NM_000388.4(CASR):c.2347C>T (p.Leu783=)
NM_000388.4(CASR):c.2349G>A (p.Leu783=) rs2074937009
NM_000388.4(CASR):c.2358C>T (p.Ile786=) rs2107650380
NM_000388.4(CASR):c.235G>A (p.Glu79Lys) rs2074562715
NM_000388.4(CASR):c.2360G>A (p.Cys787Tyr)
NM_000388.4(CASR):c.2361C>T (p.Cys787=) rs1211380440
NM_000388.4(CASR):c.2362T>C (p.Phe788Leu) rs104893711
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser)
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys) rs104893701
NM_000388.4(CASR):c.2366T>C (p.Phe789Ser)
NM_000388.4(CASR):c.2368T>C (p.Phe790Leu)
NM_000388.4(CASR):c.2369T>G (p.Phe790Cys)
NM_000388.4(CASR):c.2370T>G (p.Phe790Leu)
NM_000388.4(CASR):c.2373C>T (p.Ala791=) rs1553769095
NM_000388.4(CASR):c.2378A>T (p.Lys793Met)
NM_000388.4(CASR):c.2379G>A (p.Lys793=) rs2107650412
NM_000388.4(CASR):c.237G>A (p.Glu79=) rs2074562746
NM_000388.4(CASR):c.237G>C (p.Glu79Asp) rs2074562746
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)
NM_000388.4(CASR):c.2382C>T (p.Ser794=)
NM_000388.4(CASR):c.2383C>G (p.Arg795Gly) rs121909258
NM_000388.4(CASR):c.2384G>A (p.Arg795Gln)
NM_000388.4(CASR):c.2384G>C (p.Arg795Pro)
NM_000388.4(CASR):c.2384G>T (p.Arg795Leu) rs549975115
NM_000388.4(CASR):c.2389C>A (p.Leu797Met) rs866506433
NM_000388.4(CASR):c.2389C>T (p.Leu797=)
NM_000388.4(CASR):c.238G>C (p.Glu80Gln)
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg) rs1060502856
NM_000388.4(CASR):c.2394G>A (p.Pro798=) rs1353910174
NM_000388.4(CASR):c.2397G>A (p.Glu799=)
NM_000388.4(CASR):c.2397G>C (p.Glu799Asp) rs752953216
NM_000388.4(CASR):c.239A>C (p.Glu80Ala) rs1576854303
NM_000388.4(CASR):c.2404A>G (p.Asn802Asp) rs2074937924
NM_000388.4(CASR):c.2406T>C (p.Asn802=)
NM_000388.4(CASR):c.2409A>G (p.Glu803=)
NM_000388.4(CASR):c.2410G>A (p.Ala804Thr) rs777219967
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg)
NM_000388.4(CASR):c.2415G>A (p.Lys805=) rs1467118491
NM_000388.4(CASR):c.2415del (p.Lys805fs) rs2107650472
NM_000388.4(CASR):c.2417T>A (p.Phe806Tyr) rs104893693
NM_000388.4(CASR):c.2417T>C (p.Phe806Ser) rs104893693
NM_000388.4(CASR):c.2417T>G (p.Phe806Cys) rs104893693
NM_000388.4(CASR):c.2418C>T (p.Phe806=) rs2107650480
NM_000388.4(CASR):c.2421C>T (p.Ile807=) rs1559969145
NM_000388.4(CASR):c.2425T>A (p.Phe809Ile) rs2074938402
NM_000388.4(CASR):c.2429G>A (p.Ser810Asn) rs2074938472
NM_000388.4(CASR):c.2429G>C (p.Ser810Thr)
NM_000388.4(CASR):c.2431A>G (p.Met811Val) rs1057521129
NM_000388.4(CASR):c.2434C>T (p.Leu812Phe) rs1385228926
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro) rs193922435
NM_000388.4(CASR):c.2436C>G (p.Leu812=)
NM_000388.4(CASR):c.2439C>A (p.Ile813=)
NM_000388.4(CASR):c.2439C>T (p.Ile813=) rs1228810304
NM_000388.4(CASR):c.2440TTC[1] (p.Phe815del)
NM_000388.4(CASR):c.2444T>C (p.Phe815Ser)
NM_000388.4(CASR):c.2446A>G (p.Ile816Val) rs2107650518
NM_000388.4(CASR):c.2448C>A (p.Ile816=) rs781343891
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) rs781343891
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000388.4(CASR):c.2449G>C (p.Val817Leu) rs1057518933
NM_000388.4(CASR):c.244_247del (p.Asn82fs)
NM_000388.4(CASR):c.2451C>T (p.Val817=)
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys)
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) rs2074939020
NM_000388.4(CASR):c.2459C>T (p.Ser820Phe) rs104893710
NM_000388.4(CASR):c.2460C>T (p.Ser820=)
NM_000388.4(CASR):c.2461T>G (p.Phe821Val) rs2074939089
NM_000388.4(CASR):c.2464A>G (p.Ile822Val) rs2074939118
NM_000388.4(CASR):c.2465T>C (p.Ile822Thr) rs1553769120
NM_000388.4(CASR):c.2466T>C (p.Ile822=)
NM_000388.4(CASR):c.246C>G (p.Asn82Lys)
NM_000388.4(CASR):c.2470G>A (p.Ala824Thr) rs2107650576
NM_000388.4(CASR):c.2470G>C (p.Ala824Pro)
NM_000388.4(CASR):c.2471C>G (p.Ala824Gly) rs2074939274
NM_000388.4(CASR):c.2471C>T (p.Ala824Val) rs2074939274
NM_000388.4(CASR):c.2472C>T (p.Ala824=) rs2107650582
NM_000388.4(CASR):c.2475T>C (p.Tyr825=)
NM_000388.4(CASR):c.2477C>G (p.Ala826Gly) rs2074939465
NM_000388.4(CASR):c.2477C>T (p.Ala826Val) rs2074939465
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro) rs794729230
NM_000388.4(CASR):c.2484C>A (p.Thr828=)
NM_000388.4(CASR):c.2487T>C (p.Tyr829=) rs2107650596
NM_000388.4(CASR):c.2490C>A (p.Gly830=)
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser) rs2107650603
NM_000388.4(CASR):c.2496T>C (p.Phe832=) rs2074939583
NM_000388.4(CASR):c.2497G>C (p.Val833Leu) rs1187496835
NM_000388.4(CASR):c.2503G>A (p.Ala835Thr) rs2074939751
NM_000388.4(CASR):c.2503G>C (p.Ala835Pro) rs2074939751
NM_000388.4(CASR):c.2505C>A (p.Ala835=)
NM_000388.4(CASR):c.2506G>A (p.Val836Ile)
NM_000388.4(CASR):c.2506G>C (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2506G>T (p.Val836Leu) rs2107650629
NM_000388.4(CASR):c.2508A>G (p.Val836=)
NM_000388.4(CASR):c.2509G>A (p.Glu837Lys)
NM_000388.4(CASR):c.250A>C (p.Ser84Arg) rs1559956545
NM_000388.4(CASR):c.2511G>A (p.Glu837=) rs2107650636
NM_000388.4(CASR):c.2511G>T (p.Glu837Asp)
NM_000388.4(CASR):c.2513T>C (p.Val838Ala)
NM_000388.4(CASR):c.2516T>A (p.Ile839Asn) rs2107650645
NM_000388.4(CASR):c.2518del (p.Ala840fs)
NM_000388.4(CASR):c.2519C>T (p.Ala840Val) rs1553769127
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe)
NM_000388.4(CASR):c.2526G>A (p.Leu842=) rs1457253066
NM_000388.4(CASR):c.2526G>T (p.Leu842=)
NM_000388.4(CASR):c.2528C>A (p.Ala843Glu) rs104893706
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr)
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg) rs1576878096
NM_000388.4(CASR):c.2533_2545del (p.Ser845fs) rs2107650671
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn)
NM_000388.4(CASR):c.2535C>T (p.Ser845=)
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser)
NM_000388.4(CASR):c.2545C>T (p.Leu849=)
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro) rs2074940343
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.2549C>T (p.Ala850Val)
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
NM_000388.4(CASR):c.2556C>T (p.Ile852=) rs1172993116
NM_000388.4(CASR):c.2559C>G (p.Phe853Leu) rs2074940685
NM_000388.4(CASR):c.2560T>A (p.Phe854Ile) rs565491972
NM_000388.4(CASR):c.2564A>G (p.Asn855Ser) rs2074940832
NM_000388.4(CASR):c.2565C>G (p.Asn855Lys)
NM_000388.4(CASR):c.2565C>T (p.Asn855=) rs760806852
NM_000388.4(CASR):c.2568G>A (p.Lys856=)
NM_000388.4(CASR):c.2570T>A (p.Ile857Asn) rs766445416
NM_000388.4(CASR):c.2570T>G (p.Ile857Ser) rs766445416
NM_000388.4(CASR):c.2575A>C (p.Ile859Leu) rs1576878156
NM_000388.4(CASR):c.2575A>G (p.Ile859Val)
NM_000388.4(CASR):c.2576T>A (p.Ile859Asn) rs2107650756
NM_000388.4(CASR):c.2581C>G (p.Leu861Val) rs2074941334
NM_000388.4(CASR):c.2582T>C (p.Leu861Pro)
NM_000388.4(CASR):c.2583C>T (p.Leu861=) rs2107650764
NM_000388.4(CASR):c.2589G>A (p.Lys863=)
NM_000388.4(CASR):c.258C>A (p.Ala86=) rs1060504736
NM_000388.4(CASR):c.2592A>G (p.Pro864=)
NM_000388.4(CASR):c.2594C>G (p.Ser865Cys) rs2074941438
NM_000388.4(CASR):c.2594C>T (p.Ser865Phe) rs2074941438
NM_000388.4(CASR):c.2596C>T (p.Arg866Cys) rs1576878170
NM_000388.4(CASR):c.2597G>C (p.Arg866Pro) rs387907401
NM_000388.4(CASR):c.2597G>T (p.Arg866Leu) rs387907401
NM_000388.4(CASR):c.2597_2598delinsTT (p.Arg866Leu) rs1553769144
NM_000388.4(CASR):c.2598C>T (p.Arg866=) rs2107650803
NM_000388.4(CASR):c.25G>T (p.Val9Phe)
NM_000388.4(CASR):c.2604C>G (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2604C>T (p.Thr868=) rs957447440
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
NM_000388.4(CASR):c.2614G>A (p.Val872Met)
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys) rs2074941878
NM_000388.4(CASR):c.2618G>A (p.Arg873His)
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro) rs2107650838
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg) rs2107650843
NM_000388.4(CASR):c.2625C>T (p.Ser875=) rs1313041878
NM_000388.4(CASR):c.2626_2633del (p.Thr876fs)
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile) rs1576878212
NM_000388.4(CASR):c.2628C>A (p.Thr876=)
NM_000388.4(CASR):c.2628C>G (p.Thr876=)
NM_000388.4(CASR):c.2628C>T (p.Thr876=) rs758631679
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr) rs2107650865
NM_000388.4(CASR):c.2631A>C (p.Ala877=)
NM_000388.4(CASR):c.2637C>A (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2637C>G (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter) rs193922437
NM_000388.4(CASR):c.2645A>G (p.Lys882Arg) rs1553769162
NM_000388.4(CASR):c.264T>C (p.Leu88=) rs2107627524
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser)
NM_000388.4(CASR):c.2651del (p.Ala884fs)
NM_000388.4(CASR):c.2652T>G (p.Ala884=)
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
NM_000388.4(CASR):c.2656C>T (p.Arg886Trp) rs1559969429
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.2657G>C (p.Arg886Pro) rs1057520791
NM_000388.4(CASR):c.2658G>A (p.Arg886=) rs2074942754
NM_000388.4(CASR):c.2658G>T (p.Arg886=)
NM_000388.4(CASR):c.2659G>A (p.Ala887Thr)
NM_000388.4(CASR):c.265C>A (p.Pro89Thr) rs2074563203
NM_000388.4(CASR):c.2660C>A (p.Ala887Asp)
NM_000388.4(CASR):c.2663C>T (p.Thr888Met)
NM_000388.4(CASR):c.2664G>A (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>C (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2664G>T (p.Thr888=) rs751165754
NM_000388.4(CASR):c.2665_2680del (p.Leu889fs) rs1576878270
NM_000388.4(CASR):c.266C>G (p.Pro89Arg)
NM_000388.4(CASR):c.2671C>T (p.Arg891Cys) rs1360294910
NM_000388.4(CASR):c.267C>T (p.Pro89=) rs2107627535
NM_000388.4(CASR):c.2680G>C (p.Val894Leu) rs200883282
NM_000388.4(CASR):c.2682_3224del (p.Ser895_Val1075del) rs1553769169
NM_000388.4(CASR):c.2684C>G (p.Ser895Cys) rs1553769171
NM_000388.4(CASR):c.2686C>T (p.Arg896Cys) rs749125441
NM_000388.4(CASR):c.2686del (p.Arg896fs) rs193922438
NM_000388.4(CASR):c.2688C>A (p.Arg896=) rs1037117955
NM_000388.4(CASR):c.2692C>T (p.Arg898Trp) rs747205055
NM_000388.4(CASR):c.2696C>G (p.Ser899Cys) rs2107651026
NM_000388.4(CASR):c.269A>G (p.Asn90Ser)
NM_000388.4(CASR):c.26T>A (p.Val9Asp)
NM_000388.4(CASR):c.2702G>A (p.Ser901Asn)
NM_000388.4(CASR):c.2707G>C (p.Gly903Arg)
NM_000388.4(CASR):c.2709A>G (p.Gly903=) rs1576878358
NM_000388.4(CASR):c.270C>T (p.Asn90=) rs201944670
NM_000388.4(CASR):c.2712C>T (p.Gly904=) rs1027208202
NM_000388.4(CASR):c.2713T>C (p.Ser905Pro) rs2107651054
NM_000388.4(CASR):c.2714C>T (p.Ser905Phe) rs1559969541
NM_000388.4(CASR):c.2717C>A (p.Thr906Lys) rs200357435
NM_000388.4(CASR):c.271T>C (p.Leu91=) rs200375728
NM_000388.4(CASR):c.2725A>G (p.Thr909Ala) rs1559969557
NM_000388.4(CASR):c.2726C>A (p.Thr909Asn) rs201067523
NM_000388.4(CASR):c.2726C>G (p.Thr909Ser)
NM_000388.4(CASR):c.2726C>T (p.Thr909Ile)
NM_000388.4(CASR):c.2727C>G (p.Thr909=)
NM_000388.4(CASR):c.2729C>G (p.Pro910Arg) rs1219288084
NM_000388.4(CASR):c.2730C>T (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer)
NM_000388.4(CASR):c.2736C>T (p.Ser912=) rs764332910
NM_000388.4(CASR):c.2739C>A (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.2739C>T (p.Ser913=) rs2074944827
NM_000388.4(CASR):c.273G>A (p.Leu91=)
NM_000388.4(CASR):c.273G>C (p.Leu91Phe) rs2107627555
NM_000388.4(CASR):c.2741T>A (p.Ile914Asn)
NM_000388.4(CASR):c.2741T>C (p.Ile914Thr) rs2074944863
NM_000388.4(CASR):c.2742C>T (p.Ile914=) rs539528196
NM_000388.4(CASR):c.2744G>C (p.Ser915Thr) rs2107651117
NM_000388.4(CASR):c.2744GCA[3] (p.Ser916_Lys917insSer)
NM_000388.4(CASR):c.2749A>G (p.Lys917Glu)
NM_000388.4(CASR):c.2750A>G (p.Lys917Arg)
NM_000388.4(CASR):c.2759G>A (p.Ser920Asn) rs767241288
NM_000388.4(CASR):c.2760C>T (p.Ser920=) rs749958063
NM_000388.4(CASR):c.2763A>G (p.Glu921=)
NM_000388.4(CASR):c.276G>T (p.Thr92=) rs201013419
NM_000388.4(CASR):c.2770T>C (p.Phe924Leu) rs778591886
NM_000388.4(CASR):c.2770T>G (p.Phe924Val)
NM_000388.4(CASR):c.2771T>C (p.Phe924Ser)
NM_000388.4(CASR):c.2772C>T (p.Phe924=)
NM_000388.4(CASR):c.2776C>T (p.Gln926Ter) rs2107651172
NM_000388.4(CASR):c.277C>T (p.Leu93=) rs201153680
NM_000388.4(CASR):c.2780C>T (p.Pro927Leu)
NM_000388.4(CASR):c.2780_2857dup (p.Pro927_Gln952dup) rs1576878469
NM_000388.4(CASR):c.2781C>G (p.Pro927=) rs771142444
NM_000388.4(CASR):c.2781C>T (p.Pro927=)
NM_000388.4(CASR):c.2783A>G (p.Glu928Gly)
NM_000388.4(CASR):c.2784G>C (p.Glu928Asp)
NM_000388.4(CASR):c.2785A>G (p.Arg929Gly)
NM_000388.4(CASR):c.2788C>G (p.Gln930Glu) rs2074945839
NM_000388.4(CASR):c.2792AGC[3] (p.Gln934del)
NM_000388.4(CASR):c.2792AGC[6] (p.Gln934_Pro935insGlnGln)
NM_000388.4(CASR):c.2794C>G (p.Gln932Glu) rs2107651215
NM_000388.4(CASR):c.2795A>C (p.Gln932Pro)
NM_000388.4(CASR):c.2801A>C (p.Gln934Pro)
NM_000388.4(CASR):c.2803C>T (p.Pro935Ser)
NM_000388.4(CASR):c.2804C>T (p.Pro935Leu) rs201950717
NM_000388.4(CASR):c.2804_2836dup (p.Pro935_Gln945dup) rs2074946020
NM_000388.4(CASR):c.2805G>A (p.Pro935=) rs1358539214
NM_000388.4(CASR):c.2805G>C (p.Pro935=)
NM_000388.4(CASR):c.2810C>T (p.Ala937Val)
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile) rs2074946372
NM_000388.4(CASR):c.2814A>C (p.Leu938=) rs2107651263
NM_000388.4(CASR):c.2817C>T (p.Thr939=) rs1576878565
NM_000388.4(CASR):c.2818C>T (p.Gln940Ter) 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.2825AGC[4] (p.Gln946del)
NM_000388.4(CASR):c.2825AGC[6] (p.Gln946dup) rs747740545
NM_000388.4(CASR):c.2825AGC[7] (p.Gln946_Pro947insGlnGln)
NM_000388.4(CASR):c.2826G>A (p.Glu942=) rs2107651299
NM_000388.4(CASR):c.2826G>T (p.Glu942Asp) rs2107651299
NM_000388.4(CASR):c.282A>G (p.Gly94=)
NM_000388.4(CASR):c.282A>T (p.Gly94=)
NM_000388.4(CASR):c.2830C>A (p.Gln944Lys) rs2107651308
NM_000388.4(CASR):c.2830C>T (p.Gln944Ter)
NM_000388.4(CASR):c.2831A>G (p.Gln944Arg)
NM_000388.4(CASR):c.2833C>A (p.Gln945Lys) rs2107651317
NM_000388.4(CASR):c.2840C>A (p.Pro947His) rs767292478
NM_000388.4(CASR):c.2840_2860dup (p.Pro947_Gln953dup) rs2074946815
NM_000388.4(CASR):c.2841C>G (p.Pro947=) rs1553769221
NM_000388.4(CASR):c.2842_2880dup (p.Leu948_Pro960dup) rs1559969726
NM_000388.4(CASR):c.2844G>C (p.Leu948=) rs140586950
NM_000388.4(CASR):c.2845A>G (p.Thr949Ala)
NM_000388.4(CASR):c.2846C>A (p.Thr949Asn)
NM_000388.4(CASR):c.284A>G (p.Tyr95Cys) rs1060502850
NM_000388.4(CASR):c.2852C>G (p.Pro951Arg)
NM_000388.4(CASR):c.2852C>T (p.Pro951Leu)
NM_000388.4(CASR):c.2853A>G (p.Pro951=)
NM_000388.4(CASR):c.2856G>A (p.Gln952=) rs2074947335
NM_000388.4(CASR):c.2863C>T (p.Arg955Ter) rs2074947445
NM_000388.4(CASR):c.2864G>A (p.Arg955Gln) rs866599196
NM_000388.4(CASR):c.2866T>G (p.Ser956Ala) rs1559969778
NM_000388.4(CASR):c.2867C>A (p.Ser956Tyr) rs2074947543
NM_000388.4(CASR):c.286A>C (p.Arg96=) rs2107627583
NM_000388.4(CASR):c.2870AGC[2] (p.Gln959del) rs2107651405
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys) rs2074947724
NM_000388.4(CASR):c.2874G>A (p.Gln958=) rs2074947758
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys) rs2107651420
NM_000388.4(CASR):c.2877del (p.Gln959fs) rs2107651423
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser) rs1352202616
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly) rs2074947830
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg)
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs)
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn) rs1060502859
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn)
NM_000388.4(CASR):c.288G>A (p.Arg96=) rs375151193
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu) rs2074948026
NM_000388.4(CASR):c.2895G>A (p.Lys965=) rs1251254766
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn) rs1251254766
NM_000388.4(CASR):c.2898C>T (p.Val966=) rs1576878768
NM_000388.4(CASR):c.28C>A (p.Leu10Ile) rs1327682547
NM_000388.4(CASR):c.28C>T (p.Leu10Phe) rs1327682547
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2901C>T (p.Ile967=) rs199594582
NM_000388.4(CASR):c.2903T>C (p.Phe968Ser) rs2107651496
NM_000388.4(CASR):c.2904T>C (p.Phe968=) rs769965955
NM_000388.4(CASR):c.2904T>G (p.Phe968Leu)
NM_000388.4(CASR):c.2904_2924del (p.Gly969_Phe975del) rs2074948607
NM_000388.4(CASR):c.2905G>A (p.Gly969Ser)
NM_000388.4(CASR):c.2909G>A (p.Ser970Asn)
NM_000388.4(CASR):c.2910C>T (p.Ser970=) rs200686461
NM_000388.4(CASR):c.2915C>G (p.Thr972Arg)
NM_000388.4(CASR):c.2919C>A (p.Val973=)
NM_000388.4(CASR):c.291A>G (p.Ile97Met) rs1370844938
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr) rs2074563967
NM_000388.4(CASR):c.293T>C (p.Phe98Ser) rs2074563967
NM_000388.4(CASR):c.2942A>T (p.Glu981Val) rs766653315
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr) rs387907395
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg)
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg) rs878853975
NM_000388.4(CASR):c.2949G>A (p.Gln983=)
NM_000388.4(CASR):c.2949GAA[1] (p.Lys984del)
NM_000388.4(CASR):c.294T>G (p.Phe98Leu) rs878853976
NM_000388.4(CASR):c.2951A>G (p.Lys984Arg) rs1553769261
NM_000388.4(CASR):c.2952G>A (p.Lys984=) rs2107651573
NM_000388.4(CASR):c.2952G>C (p.Lys984Asn)
NM_000388.4(CASR):c.2955_2956delinsTT (p.Ala986Ser) rs2107651579
NM_000388.4(CASR):c.2956G>A (p.Ala986Thr) rs1801725
NM_000388.4(CASR):c.2957C>A (p.Ala986Asp) rs1268409560
NM_000388.4(CASR):c.2959A>G (p.Met987Val) rs2107651596
NM_000388.4(CASR):c.2960T>G (p.Met987Arg) rs2074949750
NM_000388.4(CASR):c.2961G>A (p.Met987Ile)
NM_000388.4(CASR):c.2963C>T (p.Ala988Val)
NM_000388.4(CASR):c.296A>T (p.Asp99Val) rs2107627605
NM_000388.4(CASR):c.2971A>C (p.Asn991His) rs1553769276
NM_000388.4(CASR):c.2973T>A (p.Asn991Lys)
NM_000388.4(CASR):c.2973T>C (p.Asn991=) rs1257108488
NM_000388.4(CASR):c.2976T>C (p.Ser992=) rs2107651635
NM_000388.4(CASR):c.2979G>A (p.Thr993=) rs917914806
NM_000388.4(CASR):c.2979G>C (p.Thr993=)
NM_000388.4(CASR):c.2980C>T (p.His994Tyr) rs1559969980
NM_000388.4(CASR):c.2981A>C (p.His994Pro)
NM_000388.4(CASR):c.2983C>A (p.Gln995Lys)
NM_000388.4(CASR):c.2985G>C (p.Gln995His) rs201341173
NM_000388.4(CASR):c.2986A>C (p.Asn996His) rs2074950435
NM_000388.4(CASR):c.298A>T (p.Thr100Ser) rs1433686492
NM_000388.4(CASR):c.2990C>A (p.Ser997Tyr) rs1244383237
NM_000388.4(CASR):c.2990C>G (p.Ser997Cys) rs1244383237
NM_000388.4(CASR):c.2990C>T (p.Ser997Phe)
NM_000388.4(CASR):c.2993T>A (p.Leu998Gln)
NM_000388.4(CASR):c.2995G>A (p.Glu999Lys) rs2074950648
NM_000388.4(CASR):c.2996A>C (p.Glu999Ala) rs201052958
NM_000388.4(CASR):c.2996A>G (p.Glu999Gly) rs201052958
NM_000388.4(CASR):c.2996A>T (p.Glu999Val) rs201052958
NM_000388.4(CASR):c.2998G>A (p.Ala1000Thr)
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
NM_000388.4(CASR):c.2T>G (p.Met1Arg)
NM_000388.4(CASR):c.3000C>G (p.Ala1000=) rs2107651678
NM_000388.4(CASR):c.3001C>G (p.Gln1001Glu) rs756322971
NM_000388.4(CASR):c.3001C>T (p.Gln1001Ter)
NM_000388.4(CASR):c.3002A>C (p.Gln1001Pro) rs1176923284
NM_000388.4(CASR):c.3004A>C (p.Lys1002Gln) rs1467916973
NM_000388.4(CASR):c.3004A>G (p.Lys1002Glu) rs1467916973
NM_000388.4(CASR):c.3008G>A (p.Ser1003Asn) rs2074950882
NM_000388.4(CASR):c.300T>G (p.Thr100=) rs2107627615
NM_000388.4(CASR):c.3010A>C (p.Ser1004Arg) rs780255825
NM_000388.4(CASR):c.3010A>T (p.Ser1004Cys) rs780255825
NM_000388.4(CASR):c.3013G>C (p.Asp1005His) rs201990892
NM_000388.4(CASR):c.3018G>T (p.Thr1006=) rs748637478
NM_000388.4(CASR):c.3020T>A (p.Leu1007Gln) rs200238591
NM_000388.4(CASR):c.3021G>T (p.Leu1007=)
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly) rs1256856876
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.3029A>G (p.His1010Arg) rs547957679
NM_000388.4(CASR):c.302G>C (p.Cys101Ser)
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln) rs386665242
NM_000388.4(CASR):c.3033G>A (p.Glu1011=)
NM_000388.4(CASR):c.3034C>A (p.Pro1012Thr) rs763977493
NM_000388.4(CASR):c.3034C>G (p.Pro1012Ala)
NM_000388.4(CASR):c.3035C>A (p.Pro1012Gln) rs1576879134
NM_000388.4(CASR):c.3036A>G (p.Pro1012=)
NM_000388.4(CASR):c.303C>A (p.Cys101Ter)
NM_000388.4(CASR):c.303C>T (p.Cys101=) rs754033243
NM_000388.4(CASR):c.3040C>A (p.Leu1014Ile) rs202219108
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe) rs202219108
NM_000388.4(CASR):c.3042C>A (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>G (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3042C>T (p.Leu1014=) rs1576879144
NM_000388.4(CASR):c.3044del (p.Pro1015fs) rs2074952162
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro) rs755151413
NM_000388.4(CASR):c.3048G>A (p.Leu1016=)
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro) rs779116209
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly)
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu)
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln) rs1060502858
NM_000388.4(CASR):c.3058del (p.Glu1020fs)
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys) rs759009566
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg) rs759009566
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met) rs759009566
NM_000388.4(CASR):c.3063G>A (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3063G>C (p.Thr1021=) rs193922440
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn) rs2107651862
NM_000388.4(CASR):c.3069A>G (p.Leu1023=)
NM_000388.4(CASR):c.306C>T (p.Asn102=)
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr) rs2107651875
NM_000388.4(CASR):c.3072T>C (p.Asp1024=)
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val)
NM_000388.4(CASR):c.3078C>A (p.Thr1026=) rs771319302
NM_000388.4(CASR):c.3082C>T (p.Gln1028Ter) rs1290267062
NM_000388.4(CASR):c.3082del (p.Gln1028fs) rs2107651889
NM_000388.4(CASR):c.3083A>G (p.Gln1028Arg) rs2074953171
NM_000388.4(CASR):c.3085G>A (p.Glu1029Lys) rs2107651900
NM_000388.4(CASR):c.3086A>C (p.Glu1029Ala) rs2107651904
NM_000388.4(CASR):c.3086A>G (p.Glu1029Gly)
NM_000388.4(CASR):c.3087A>T (p.Glu1029Asp) rs200786703
NM_000388.4(CASR):c.3088A>G (p.Thr1030Ala) rs2074953253
NM_000388.4(CASR):c.3088dup (p.Thr1030fs) rs2107651905
NM_000388.4(CASR):c.3089C>G (p.Thr1030Arg) rs2107651914
NM_000388.4(CASR):c.3089C>T (p.Thr1030Ile)
NM_000388.4(CASR):c.3090A>G (p.Thr1030=)
NM_000388.4(CASR):c.3093T>A (p.Gly1031=)
NM_000388.4(CASR):c.3093T>C (p.Gly1031=) rs1576879215
NM_000388.4(CASR):c.3096G>A (p.Leu1032=)
NM_000388.4(CASR):c.3096G>T (p.Leu1032=) rs2107651933
NM_000388.4(CASR):c.309C>G (p.Thr103=)
NM_000388.4(CASR):c.309C>T (p.Thr103=) rs373057548
NM_000388.4(CASR):c.3100G>A (p.Gly1034Arg)
NM_000388.4(CASR):c.3104C>A (p.Pro1035His)
NM_000388.4(CASR):c.3106G>A (p.Val1036Met)
NM_000388.4(CASR):c.310G>A (p.Val104Ile) rs2074564250
NM_000388.4(CASR):c.3112G>T (p.Gly1038Ter) rs764032437
NM_000388.4(CASR):c.3114A>G (p.Gly1038=) rs2107651950
NM_000388.4(CASR):c.3118C>T (p.Gln1040Ter) rs1007139212
NM_000388.4(CASR):c.3120G>A (p.Gln1040=)
NM_000388.4(CASR):c.3120G>T (p.Gln1040His) rs2107651962
NM_000388.4(CASR):c.3121C>A (p.Arg1041=) rs193921082
NM_000388.4(CASR):c.3122G>A (p.Arg1041Gln) rs761580803
NM_000388.4(CASR):c.3124C>G (p.Pro1042Ala) rs2074953862
NM_000388.4(CASR):c.3124C>T (p.Pro1042Ser) rs2074953862
NM_000388.4(CASR):c.3133G>A (p.Glu1045Lys) rs2074954067
NM_000388.4(CASR):c.3135G>A (p.Glu1045=)
NM_000388.4(CASR):c.3135G>C (p.Glu1045Asp) rs765519865
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu) rs878853977
NM_000388.4(CASR):c.3138C>T (p.Asp1046=) rs878853977
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys) rs758535387
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter) rs2107652017
NM_000388.4(CASR):c.3150G>A (p.Leu1050=)
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe) rs2107652019
NM_000388.4(CASR):c.3153C>T (p.Ser1051=) rs1576879292
NM_000388.4(CASR):c.315T>C (p.Ser105=) rs2107627628
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile) rs1245761983
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu) rs2074954670
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala)
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr) rs1553769334
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro)
NM_000388.4(CASR):c.316A>G (p.Lys106Glu)
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly) rs2074954886
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
NM_000388.4(CASR):c.3180G>C (p.Gln1060His) rs2107652073
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn) rs2074954983
NM_000388.4(CASR):c.318G>A (p.Lys106=)
NM_000388.4(CASR):c.3190A>G (p.Ile1064Val) rs2107652087
NM_000388.4(CASR):c.3194G>A (p.Ser1065Asn) rs999978032
NM_000388.4(CASR):c.3197G>T (p.Gly1066Val) rs769439564
NM_000388.4(CASR):c.3199G>A (p.Gly1067Arg)
NM_000388.4(CASR):c.319G>A (p.Ala107Thr)
NM_000388.4(CASR):c.3200G>A (p.Gly1067Glu) rs2107652105
NM_000388.4(CASR):c.3201A>G (p.Gly1067=) rs146918302
NM_000388.4(CASR):c.3203G>A (p.Gly1068Asp) rs1193543664
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)
NM_000388.4(CASR):c.3204C>G (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3204C>T (p.Gly1068=) rs373902031
NM_000388.4(CASR):c.3207del (p.Ser1069fs) rs2107652125
NM_000388.4(CASR):c.3211G>A (p.Val1071Ile) rs1576879357
NM_000388.4(CASR):c.3215C>T (p.Thr1072Ile) rs2107652135
NM_000388.4(CASR):c.3216A>C (p.Thr1072=) rs1259584809
NM_000388.4(CASR):c.321C>T (p.Ala107=)
NM_000388.4(CASR):c.3221del (p.Asn1074fs) rs2074955500
NM_000388.4(CASR):c.3222C>T (p.Asn1074=)
NM_000388.4(CASR):c.3223G>A (p.Val1075Ile) rs748855270
NM_000388.4(CASR):c.3223G>T (p.Val1075Leu) rs748855270
NM_000388.4(CASR):c.3224T>C (p.Val1075Ala) rs2107652158
NM_000388.4(CASR):c.322T>C (p.Leu108=) rs1553766241
NM_000388.4(CASR):c.3234A>G (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.3236A>G (p.Ter1079=) rs1060504735
NM_000388.4(CASR):c.323T>C (p.Leu108Ser) rs1553766242
NM_000388.4(CASR):c.328G>C (p.Ala110Pro)
NM_000388.4(CASR):c.329C>A (p.Ala110Asp) rs1559956624
NM_000388.4(CASR):c.329C>T (p.Ala110Val)
NM_000388.4(CASR):c.335T>C (p.Leu112Pro) rs2107627647
NM_000388.4(CASR):c.33G>A (p.Leu11=) rs1302047092
NM_000388.4(CASR):c.341T>C (p.Phe114Ser) rs1553766245
NM_000388.4(CASR):c.345T>C (p.Val115=)
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.347C>G (p.Ala116Gly)
NM_000388.4(CASR):c.349C>T (p.Gln117Ter) rs2107627659
NM_000388.4(CASR):c.350A>C (p.Gln117Pro) rs2074564685
NM_000388.4(CASR):c.352A>G (p.Asn118Asp)
NM_000388.4(CASR):c.354C>A (p.Asn118Lys) rs104893695
NM_000388.4(CASR):c.354C>T (p.Asn118=) rs104893695
NM_000388.4(CASR):c.357_358del (p.Lys119fs) rs2107627671
NM_000388.4(CASR):c.360T>G (p.Ile120Met) rs1576854465
NM_000388.4(CASR):c.361G>C (p.Asp121His) rs2074564785
NM_000388.4(CASR):c.363T>C (p.Asp121=)
NM_000388.4(CASR):c.365C>A (p.Ser122Tyr) rs778201006
NM_000388.4(CASR):c.365C>T (p.Ser122Phe)
NM_000388.4(CASR):c.367T>A (p.Leu123Met) rs2107627702
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.372C>G (p.Asn124Lys)
NM_000388.4(CASR):c.374T>C (p.Leu125Pro) rs104893708
NM_000388.4(CASR):c.375TGA[1] (p.Asp126del)
NM_000388.4(CASR):c.377A>T (p.Asp126Val) rs1553766257
NM_000388.4(CASR):c.379G>A (p.Glu127Lys) rs2074565202
NM_000388.4(CASR):c.380A>C (p.Glu127Ala) rs121909260
NM_000388.4(CASR):c.380A>G (p.Glu127Gly) rs121909260
NM_000388.4(CASR):c.381G>A (p.Glu127=) rs2074565277
NM_000388.4(CASR):c.382T>A (p.Phe128Ile) rs104893696
NM_000388.4(CASR):c.382T>C (p.Phe128Leu) rs104893696
NM_000388.4(CASR):c.384C>G (p.Phe128Leu) rs1553766262
NM_000388.4(CASR):c.386G>A (p.Cys129Tyr) rs2074565392
NM_000388.4(CASR):c.38T>C (p.Leu13Pro) rs104893717
NM_000388.4(CASR):c.394T>A (p.Ser132Thr)
NM_000388.4(CASR):c.395C>T (p.Ser132Leu) rs1060502857
NM_000388.4(CASR):c.396A>G (p.Ser132=) rs1060504737
NM_000388.4(CASR):c.396_410del (p.Glu133_Ser137del) rs1559956683
NM_000388.4(CASR):c.399G>C (p.Glu133Asp)
NM_000388.4(CASR):c.400C>T (p.His134Tyr) rs2074565597
NM_000388.4(CASR):c.402C>T (p.His134=)
NM_000388.4(CASR):c.408C>T (p.Pro136=)
NM_000388.4(CASR):c.411T>C (p.Ser137=)
NM_000388.4(CASR):c.412A>G (p.Thr138Ala)
NM_000388.4(CASR):c.413C>G (p.Thr138Arg)
NM_000388.4(CASR):c.413C>T (p.Thr138Met) rs121909263
NM_000388.4(CASR):c.414G>A (p.Thr138=) rs984531247
NM_000388.4(CASR):c.416T>C (p.Ile139Thr) rs1060502860
NM_000388.4(CASR):c.41C>A (p.Thr14Asn) rs1235999733
NM_000388.4(CASR):c.41C>T (p.Thr14Ile) rs1235999733
NM_000388.4(CASR):c.420T>C (p.Ala140=) rs2107627779
NM_000388.4(CASR):c.421G>A (p.Val141Met)
NM_000388.4(CASR):c.423G>A (p.Val141=) rs2074565871
NM_000388.4(CASR):c.426G>A (p.Val142=) rs201839033
NM_000388.4(CASR):c.426G>C (p.Val142=) rs201839033
NM_000388.4(CASR):c.428G>A (p.Gly143Glu) rs121909264
NM_000388.4(CASR):c.42C>T (p.Thr14=) rs2107624779
NM_000388.4(CASR):c.42_48del (p.Trp15fs)
NM_000388.4(CASR):c.434C>T (p.Thr145Ile)
NM_000388.4(CASR):c.437G>A (p.Gly146Asp) rs2107627807
NM_000388.4(CASR):c.441A>G (p.Ser147=) rs908914926
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
NM_000388.4(CASR):c.446T>C (p.Val149Ala)
NM_000388.4(CASR):c.448_449dup (p.Thr151fs) rs1576854561
NM_000388.4(CASR):c.449C>T (p.Ser150Phe) rs1559956735
NM_000388.4(CASR):c.450C>T (p.Ser150=)
NM_000388.4(CASR):c.452C>T (p.Thr151Met) rs104893694
NM_000388.4(CASR):c.456A>G (p.Ala152=) rs201137966
NM_000388.4(CASR):c.457G>A (p.Val153Met)
NM_000388.4(CASR):c.458T>A (p.Val153Glu)
NM_000388.4(CASR):c.459G>C (p.Val153=) rs2107627855
NM_000388.4(CASR):c.460G>A (p.Ala154Thr)
NM_000388.4(CASR):c.460G>C (p.Ala154Pro) rs1559956753
NM_000388.4(CASR):c.462A>T (p.Ala154=)
NM_000388.4(CASR):c.463A>G (p.Asn155Asp) rs1553766282
NM_000388.4(CASR):c.464A>T (p.Asn155Ile)
NM_000388.4(CASR):c.465T>C (p.Asn155=) rs2074566629
NM_000388.4(CASR):c.467T>C (p.Leu156Pro) rs2107627878
NM_000388.4(CASR):c.46C>T (p.His16Tyr)
NM_000388.4(CASR):c.473G>A (p.Gly158Glu) rs2074566747
NM_000388.4(CASR):c.474G>C (p.Gly158=) rs892809123
NM_000388.4(CASR):c.474G>T (p.Gly158=) rs892809123
NM_000388.4(CASR):c.475C>G (p.Leu159Val) rs767329910
NM_000388.4(CASR):c.479T>C (p.Phe160Ser) rs2074566896
NM_000388.4(CASR):c.484A>G (p.Ile162Val)
NM_000388.4(CASR):c.486T>C (p.Ile162=) rs776784152
NM_000388.4(CASR):c.489C>T (p.Pro163=)
NM_000388.4(CASR):c.491A>G (p.Gln164Arg) rs2074567065
NM_000388.4(CASR):c.492+10C>T rs906977634
NM_000388.4(CASR):c.492+13T>G rs148131335
NM_000388.4(CASR):c.492+18_492+19delinsCA rs2107627947
NM_000388.4(CASR):c.492+19_492+20delinsAA rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAG rs2107627953
NM_000388.4(CASR):c.492+19_492+20delinsAT rs2107627953
NM_000388.4(CASR):c.492+2T>C
NM_000388.4(CASR):c.492+4C>T
NM_000388.4(CASR):c.492+6C>T rs765346357
NM_000388.4(CASR):c.492+8A>C
NM_000388.4(CASR):c.492+8A>G
NM_000388.4(CASR):c.492G>A (p.Gln164=) rs2107627922
NM_000388.4(CASR):c.493-10T>C
NM_000388.4(CASR):c.493-12G>A rs199514129
NM_000388.4(CASR):c.493-12G>T rs199514129
NM_000388.4(CASR):c.493-17T>G rs2107631652
NM_000388.4(CASR):c.493-2A>C rs1576857818
NM_000388.4(CASR):c.493-2A>G rs1576857818
NM_000388.4(CASR):c.493-4C>T rs2107631674
NM_000388.4(CASR):c.493G>A (p.Val165Ile)
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.495C>T (p.Val165=)
NM_000388.4(CASR):c.496A>C (p.Ser166Arg) rs193922441
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.497G>A (p.Ser166Asn)
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp) rs1064795096
NM_000388.4(CASR):c.501T>A (p.Tyr167Ter) rs387907394
NM_000388.4(CASR):c.501T>C (p.Tyr167=) rs387907394
NM_000388.4(CASR):c.502G>T (p.Ala168Ser) rs1471755600
NM_000388.4(CASR):c.503C>A (p.Ala168Asp) rs1576857840
NM_000388.4(CASR):c.503C>T (p.Ala168Val) rs1576857840
NM_000388.4(CASR):c.505T>C (p.Ser169Pro) rs1553766709
NM_000388.4(CASR):c.507C>G (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.507C>T (p.Ser169=) rs2107631712
NM_000388.4(CASR):c.508T>C (p.Ser170Pro) rs1060502862
NM_000388.4(CASR):c.50C>T (p.Thr17Ile) rs1424489717
NM_000388.4(CASR):c.511A>G (p.Ser171Gly)
NM_000388.4(CASR):c.513C>A (p.Ser171Arg) rs764149433
NM_000388.4(CASR):c.513C>T (p.Ser171=)
NM_000388.4(CASR):c.514A>G (p.Arg172Gly) rs201851934
NM_000388.4(CASR):c.516A>T (p.Arg172Ser) rs1114167368
NM_000388.4(CASR):c.519C>T (p.Leu173=)
NM_000388.4(CASR):c.521T>C (p.Leu174Pro)
NM_000388.4(CASR):c.522C>G (p.Leu174=) rs2107631739
NM_000388.4(CASR):c.523A>G (p.Ser175Gly) rs2107631742
NM_000388.4(CASR):c.524G>A (p.Ser175Asn)
NM_000388.4(CASR):c.527A>G (p.Asn176Ser) rs1060502849
NM_000388.4(CASR):c.528C>A (p.Asn176Lys) rs762352492
NM_000388.4(CASR):c.528C>T (p.Asn176=) rs762352492
NM_000388.4(CASR):c.528del (p.Asn176fs) rs2107631756
NM_000388.4(CASR):c.531G>T (p.Lys177Asn) rs2074621897
NM_000388.4(CASR):c.532A>G (p.Asn178Asp) rs1060502855
NM_000388.4(CASR):c.532A>T (p.Asn178Tyr) rs1060502855
NM_000388.4(CASR):c.534T>A (p.Asn178Lys)
NM_000388.4(CASR):c.536A>G (p.Gln179Arg) rs878928634
NM_000388.4(CASR):c.539T>G (p.Phe180Cys) rs121909268
NM_000388.4(CASR):c.540C>T (p.Phe180=)
NM_000388.4(CASR):c.543G>A (p.Lys181=) rs2074622150
NM_000388.4(CASR):c.545C>G (p.Ser182Cys)
NM_000388.4(CASR):c.545C>T (p.Ser182Phe) rs1576857952
NM_000388.4(CASR):c.547_548del (p.Phe183fs) rs2107631801
NM_000388.4(CASR):c.549C>G (p.Phe183Leu) rs779857648
NM_000388.4(CASR):c.549C>T (p.Phe183=)
NM_000388.4(CASR):c.54T>G (p.Ser18=) rs558522564
NM_000388.4(CASR):c.550C>G (p.Leu184Val) rs1576857982
NM_000388.4(CASR):c.550C>T (p.Leu184Phe) rs1576857982
NM_000388.4(CASR):c.551T>G (p.Leu184Arg)
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.554del (p.Arg185fs) rs193922442
NM_000388.4(CASR):c.555A>T (p.Arg185=) rs1576858013
NM_000388.4(CASR):c.558C>A (p.Thr186=)
NM_000388.4(CASR):c.558C>T (p.Thr186=)
NM_000388.4(CASR):c.55G>C (p.Ala19Pro) rs2074528751
NM_000388.4(CASR):c.560T>A (p.Ile187Asn)
NM_000388.4(CASR):c.560T>C (p.Ile187Thr)
NM_000388.4(CASR):c.562C>A (p.Pro188Thr) rs778535491
NM_000388.4(CASR):c.564C>A (p.Pro188=)
NM_000388.4(CASR):c.565A>C (p.Asn189His) rs2107631843
NM_000388.4(CASR):c.566A>T (p.Asn189Ile) rs762998933
NM_000388.4(CASR):c.566_567delinsTC (p.Asn189Ile)
NM_000388.4(CASR):c.567T>C (p.Asn189=) rs2074622837
NM_000388.4(CASR):c.568G>A (p.Asp190Asn)
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)
NM_000388.4(CASR):c.571G>A (p.Glu191Lys) rs104893697
NM_000388.4(CASR):c.574C>A (p.His192Asn) rs2107631878
NM_000388.4(CASR):c.576C>G (p.His192Gln)
NM_000388.4(CASR):c.577C>A (p.Gln193Lys)
NM_000388.4(CASR):c.577C>T (p.Gln193Ter) rs1064793992
NM_000388.4(CASR):c.587C>T (p.Ala196Val) rs1553766728
NM_000388.4(CASR):c.589A>C (p.Met197Leu)
NM_000388.4(CASR):c.590T>A (p.Met197Lys) rs774235352
NM_000388.4(CASR):c.590T>G (p.Met197Arg) rs774235352
NM_000388.4(CASR):c.591G>A (p.Met197Ile)
NM_000388.4(CASR):c.594A>G (p.Ala198=) rs1369140529
NM_000388.4(CASR):c.597C>T (p.Asp199=)
NM_000388.4(CASR):c.603C>T (p.Ile201=) rs770651757
NM_000388.4(CASR):c.604G>A (p.Glu202Lys) rs1430623191
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.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.621C>T (p.Asn207=) rs2107631955
NM_000388.4(CASR):c.621del (p.Trp208fs)
NM_000388.4(CASR):c.623G>C (p.Trp208Ser) rs2074623917
NM_000388.4(CASR):c.626T>C (p.Val209Ala)
NM_000388.4(CASR):c.628G>T (p.Gly210Cys) rs2107631971
NM_000388.4(CASR):c.630C>G (p.Gly210=) rs1340558108
NM_000388.4(CASR):c.632C>T (p.Thr211Ile) rs2074624103
NM_000388.4(CASR):c.633A>G (p.Thr211=) rs2107631986
NM_000388.4(CASR):c.634A>G (p.Ile212Val) rs2074624132
NM_000388.4(CASR):c.635T>C (p.Ile212Thr) rs1576858127
NM_000388.4(CASR):c.636T>C (p.Ile212=) rs1226146501
NM_000388.4(CASR):c.638C>T (p.Ala213Val) rs1559958979
NM_000388.4(CASR):c.63G>A (p.Gly21=) rs966820424
NM_000388.4(CASR):c.63G>C (p.Gly21=) rs966820424
NM_000388.4(CASR):c.641C>G (p.Ala214Gly)
NM_000388.4(CASR):c.643G>A (p.Asp215Asn)
NM_000388.4(CASR):c.643G>C (p.Asp215His) rs1553731681
NM_000388.4(CASR):c.646G>A (p.Asp216Asn) rs768766649
NM_000388.4(CASR):c.648C>T (p.Asp216=) rs774470582
NM_000388.4(CASR):c.652T>A (p.Tyr218Asn)
NM_000388.4(CASR):c.652T>C (p.Tyr218His) rs1057520583
NM_000388.4(CASR):c.653A>G (p.Tyr218Cys) rs2074624616
NM_000388.4(CASR):c.654T>C (p.Tyr218=) rs1576858172
NM_000388.4(CASR):c.655G>T (p.Gly219Trp) rs2107632049
NM_000388.4(CASR):c.658C>A (p.Arg220=)
NM_000388.4(CASR):c.658C>T (p.Arg220Trp) rs1482119762
NM_000388.4(CASR):c.659G>A (p.Arg220Gln) rs1202110240
NM_000388.4(CASR):c.659G>C (p.Arg220Pro)
NM_000388.4(CASR):c.660G>T (p.Arg220=)
NM_000388.4(CASR):c.662C>A (p.Pro221Gln) rs397514728
NM_000388.4(CASR):c.662C>T (p.Pro221Leu) rs397514728
NM_000388.4(CASR):c.665G>A (p.Gly222Glu)
NM_000388.4(CASR):c.666G>A (p.Gly222=) rs2107632070
NM_000388.4(CASR):c.666del (p.Ile223fs) rs2107632061
NM_000388.4(CASR):c.66A>G (p.Pro22=) rs2107624825
NM_000388.4(CASR):c.672G>C (p.Glu224Asp)
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.67G>A (p.Asp23Asn) rs2107624826
NM_000388.4(CASR):c.680G>A (p.Arg227Gln) rs28936684
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.682G>C (p.Glu228Gln)
NM_000388.4(CASR):c.684G>A (p.Glu228=) rs1173197457
NM_000388.4(CASR):c.686A>C (p.Glu229Ala) rs2074625376
NM_000388.4(CASR):c.688G>A (p.Ala230Thr)
NM_000388.4(CASR):c.689C>T (p.Ala230Val) rs2107632113
NM_000388.4(CASR):c.699G>A (p.Arg233=)
NM_000388.4(CASR):c.703A>G (p.Ile235Val) rs2107632125
NM_000388.4(CASR):c.706T>A (p.Cys236Ser)
NM_000388.4(CASR):c.707G>A (p.Cys236Tyr) rs1057518616
NM_000388.4(CASR):c.707G>T (p.Cys236Phe) rs1057518616
NM_000388.4(CASR):c.70C>T (p.Gln24Ter)
NM_000388.4(CASR):c.711C>T (p.Ile237=)
NM_000388.4(CASR):c.712G>C (p.Asp238His) rs373376842
NM_000388.4(CASR):c.714C>T (p.Asp238=)
NM_000388.4(CASR):c.715T>G (p.Phe239Val)
NM_000388.4(CASR):c.717C>T (p.Phe239=) rs2107632147
NM_000388.4(CASR):c.718A>G (p.Ser240Gly) rs200878437
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
NM_000388.4(CASR):c.721G>A (p.Glu241Lys) rs2107632158
NM_000388.4(CASR):c.721del (p.Glu241fs)
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.726C>T (p.Leu242=) rs1433483919
NM_000388.4(CASR):c.727A>G (p.Ile243Val)
NM_000388.4(CASR):c.729C>G (p.Ile243Met)
NM_000388.4(CASR):c.729C>T (p.Ile243=) rs2107632173
NM_000388.4(CASR):c.733C>T (p.Gln245Ter) rs1553766768
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
NM_000388.4(CASR):c.746A>T (p.Glu249Val)
NM_000388.4(CASR):c.747_749del (p.Glu251del)
NM_000388.4(CASR):c.749A>G (p.Glu250Gly) rs1256348744
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.751G>C (p.Glu251Gln) rs1060502854
NM_000388.4(CASR):c.753G>C (p.Glu251Asp) rs2074626568
NM_000388.4(CASR):c.754A>G (p.Ile252Val) rs2107632219
NM_000388.4(CASR):c.755T>A (p.Ile252Asn)
NM_000388.4(CASR):c.756C>A (p.Ile252=) rs201948422
NM_000388.4(CASR):c.756C>G (p.Ile252Met)
NM_000388.4(CASR):c.75A>C (p.Arg25=) rs199869938
NM_000388.4(CASR):c.765G>A (p.Val255=) rs2107632240
NM_000388.4(CASR):c.766G>A (p.Val256Ile)
NM_000388.4(CASR):c.767T>C (p.Val256Ala) rs2074626876
NM_000388.4(CASR):c.772_773delinsA (p.Val258fs)
NM_000388.4(CASR):c.776T>C (p.Ile259Thr) rs1200068518
NM_000388.4(CASR):c.778C>G (p.Gln260Glu) rs2074627053
NM_000388.4(CASR):c.782A>C (p.Asn261Thr) rs2074627203
NM_000388.4(CASR):c.783T>C (p.Asn261=) rs1576858386
NM_000388.4(CASR):c.788C>T (p.Thr263Met) rs201456938
NM_000388.4(CASR):c.789G>A (p.Thr263=) rs369124816
NM_000388.4(CASR):c.78C>A (p.Ala26=)
NM_000388.4(CASR):c.78C>G (p.Ala26=) rs77852524
NM_000388.4(CASR):c.78C>T (p.Ala26=) rs77852524
NM_000388.4(CASR):c.791C>T (p.Ala264Val)
NM_000388.4(CASR):c.795A>G (p.Lys265=) rs2107632283
NM_000388.4(CASR):c.796G>A (p.Val266Ile) rs2074627422
NM_000388.4(CASR):c.797T>G (p.Val266Gly)
NM_000388.4(CASR):c.801C>A (p.Ile267=) rs148721982
NM_000388.4(CASR):c.801C>T (p.Ile267=) rs148721982
NM_000388.4(CASR):c.802G>A (p.Val268Met) rs2074627507
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
NM_000388.4(CASR):c.815G>A (p.Ser272Asn) rs1576858432
NM_000388.4(CASR):c.816T>A (p.Ser272Arg) rs2107632311
NM_000388.4(CASR):c.818G>C (p.Gly273Ala) rs2074627937
NM_000388.4(CASR):c.819C>T (p.Gly273=) rs2107632323
NM_000388.4(CASR):c.81A>G (p.Gln27=)
NM_000388.4(CASR):c.820C>G (p.Pro274Ala)
NM_000388.4(CASR):c.820C>T (p.Pro274Ser)
NM_000388.4(CASR):c.821C>T (p.Pro274Leu) rs1005301601
NM_000388.4(CASR):c.826C>A (p.Leu276Ile)
NM_000388.4(CASR):c.831G>A (p.Glu277=) rs2107632344
NM_000388.4(CASR):c.831G>C (p.Glu277Asp)
NM_000388.4(CASR):c.832C>G (p.Pro278Ala)
NM_000388.4(CASR):c.833C>T (p.Pro278Leu)
NM_000388.4(CASR):c.834C>T (p.Pro278=)
NM_000388.4(CASR):c.835C>T (p.Leu279Phe)
NM_000388.4(CASR):c.836T>G (p.Leu279Arg) rs1553766796
NM_000388.4(CASR):c.839T>A (p.Ile280Asn) rs1559959234
NM_000388.4(CASR):c.840C>T (p.Ile280=) rs201366476
NM_000388.4(CASR):c.846G>A (p.Glu282=)
NM_000388.4(CASR):c.849T>C (p.Ile283=) rs1576858514
NM_000388.4(CASR):c.850G>A (p.Val284Ile)
NM_000388.4(CASR):c.853C>T (p.Arg285Trp) rs1553766800
NM_000388.4(CASR):c.855G>A (p.Arg285=) rs1250270901
NM_000388.4(CASR):c.855G>T (p.Arg285=)
NM_000388.4(CASR):c.856C>A (p.Arg286Ser)
NM_000388.4(CASR):c.856C>T (p.Arg286Cys) rs1060502843
NM_000388.4(CASR):c.857G>C (p.Arg286Pro) rs922511747
NM_000388.4(CASR):c.858C>T (p.Arg286=) rs2107632406
NM_000388.4(CASR):c.859A>C (p.Asn287His) rs2107632409
NM_000388.4(CASR):c.860A>G (p.Asn287Ser) rs2074629436
NM_000388.4(CASR):c.862A>G (p.Ile288Val) rs2107632419
NM_000388.4(CASR):c.864C>T (p.Ile288=) rs1553766801
NM_000388.4(CASR):c.865A>G (p.Thr289Ala) rs1559959294
NM_000388.4(CASR):c.866C>G (p.Thr289Arg) rs755840531
NM_000388.4(CASR):c.867G>T (p.Thr289=)
NM_000388.4(CASR):c.869G>A (p.Gly290Asp)
NM_000388.4(CASR):c.870C>T (p.Gly290=) rs1576858604
NM_000388.4(CASR):c.876C>T (p.Ile292=) rs772232871
NM_000388.4(CASR):c.878G>A (p.Trp293Ter)
NM_000388.4(CASR):c.87G>A (p.Lys29=) rs868678822
NM_000388.4(CASR):c.883G>A (p.Ala295Thr) rs1289972038
NM_000388.4(CASR):c.884C>G (p.Ala295Gly) rs1559959332
NM_000388.4(CASR):c.884C>T (p.Ala295Val)
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000388.4(CASR):c.889G>C (p.Glu297Gln) rs121909259
NM_000388.4(CASR):c.88G>C (p.Gly30Arg)
NM_000388.4(CASR):c.891G>T (p.Glu297Asp) rs1559959353
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.894C>G (p.Ala298=)
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889
NM_000388.4(CASR):c.900C>G (p.Ala300=) rs2107632507
NM_000388.4(CASR):c.903C>T (p.Ser301=) rs2107632513
NM_000388.4(CASR):c.904T>A (p.Ser302Thr) rs2074630497
NM_000388.4(CASR):c.905C>A (p.Ser302Tyr) rs2107632520
NM_000388.4(CASR):c.905C>G (p.Ser302Cys)
NM_000388.4(CASR):c.906C>A (p.Ser302=)
NM_000388.4(CASR):c.90G>A (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.90G>T (p.Gly30=) rs1055397172
NM_000388.4(CASR):c.910C>T (p.Leu304=)
NM_000388.4(CASR):c.915C>T (p.Ile305=) rs200528343
NM_000388.4(CASR):c.916G>C (p.Ala306Pro)
NM_000388.4(CASR):c.916G>T (p.Ala306Ser) rs2074630775
NM_000388.4(CASR):c.919A>G (p.Met307Val)
NM_000388.4(CASR):c.91G>C (p.Asp31His)
NM_000388.4(CASR):c.91dup (p.Asp31fs) rs2107624870
NM_000388.4(CASR):c.920T>C (p.Met307Thr) rs387907397
NM_000388.4(CASR):c.924_925dup (p.Gln309fs) rs2107632553
NM_000388.4(CASR):c.926A>C (p.Gln309Pro) rs1576858741
NM_000388.4(CASR):c.926A>T (p.Gln309Leu) rs1576858741
NM_000388.4(CASR):c.931T>G (p.Phe311Val) rs2107632568
NM_000388.4(CASR):c.936C>G (p.His312Gln) rs1356911586
NM_000388.4(CASR):c.936C>T (p.His312=)
NM_000388.4(CASR):c.938T>A (p.Val313Glu)
NM_000388.4(CASR):c.938T>C (p.Val313Ala)
NM_000388.4(CASR):c.942T>C (p.Val314=) rs2107632581
NM_000388.4(CASR):c.944G>A (p.Gly315Asp) rs1389231880
NM_000388.4(CASR):c.945C>A (p.Gly315=)
NM_000388.4(CASR):c.948C>T (p.Gly316=) rs2107632595
NM_000388.4(CASR):c.94A>G (p.Ile32Val) rs2074529687
NM_000388.4(CASR):c.94A>T (p.Ile32Phe) rs2074529687
NM_000388.4(CASR):c.951C>T (p.Thr317=)
NM_000388.4(CASR):c.952A>G (p.Ile318Val) rs779711318
NM_000388.4(CASR):c.953T>C (p.Ile318Thr) rs2107632605
NM_000388.4(CASR):c.955G>A (p.Gly319Arg)
NM_000388.4(CASR):c.956G>A (p.Gly319Glu) rs2107632608
NM_000388.4(CASR):c.957A>C (p.Gly319=)
NM_000388.4(CASR):c.961G>A (p.Ala321Thr) rs2074631702
NM_000388.4(CASR):c.961G>T (p.Ala321Ser)
NM_000388.4(CASR):c.961_962del (p.Ala321fs) rs2107632620
NM_000388.4(CASR):c.964C>T (p.Leu322=) rs2107632631
NM_000388.4(CASR):c.968A>C (p.Lys323Thr) rs1382062409
NM_000388.4(CASR):c.969G>A (p.Lys323=) rs1559959462
NM_000388.4(CASR):c.970G>C (p.Ala324Pro)
NM_000388.4(CASR):c.971C>A (p.Ala324Asp)
NM_000388.4(CASR):c.971C>G (p.Ala324Gly)
NM_000388.4(CASR):c.973G>C (p.Gly325Arg) rs778100486
NM_000388.4(CASR):c.975G>A (p.Gly325=)
NM_000388.4(CASR):c.977A>T (p.Gln326Leu)
NM_000388.4(CASR):c.978G>A (p.Gln326=) rs916694180
NM_000388.4(CASR):c.97_98del (p.Ile33fs)
NM_000388.4(CASR):c.981C>G (p.Ile327Met) rs1240483254
NM_000388.4(CASR):c.986_994del (p.Gly329_Arg331del) rs2107632671
NM_000388.4(CASR):c.987C>T (p.Gly329=) rs1576858879
NM_000388.4(CASR):c.991C>T (p.Arg331Trp) rs2074632178
NM_000388.4(CASR):c.992G>A (p.Arg331Gln) rs747090029
NM_000388.4(CASR):c.992G>C (p.Arg331Pro) rs747090029
NM_000388.4(CASR):c.992G>T (p.Arg331Leu)
NM_000388.4(CASR):c.994G>A (p.Glu332Lys)
NM_000388.4(CASR):c.994del (p.Glu332fs)
NM_000388.4(CASR):c.995A>G (p.Glu332Gly)
NM_000388.4(CASR):c.99C>T (p.Ile33=) rs387907398
NM_000388.4(CASR):c.9T>G (p.Phe3Leu) rs764556468
NM_000388.4:c.2628_2629insAlu
NM_000388.4:c.2643_2644insAlu

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.