ClinVar Miner

List of variants in gene CASR studied for familial hypoparathyroidism

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2259
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.*1169C>T rs200652347 0.00017
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.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.98T>G (p.Ile33Ser) rs758232331 0.00001
NC_000003.11:g.(?_121973037)_(121973231_?)dup
NC_000003.11:g.(?_121973037)_(122004038_?)del
NC_000003.11:g.(?_121980355)_(121981279_?)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.1034dup (p.Asn345fs)
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.104G>C (p.Gly35Ala)
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.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.1100del (p.Pro367fs)
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>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.1243C>T (p.Arg415Trp)
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.1256A>G (p.Asn419Ser)
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.1271T>G (p.Val424Gly)
NM_000388.4(CASR):c.1277C>T (p.Ser426Phe)
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.1290C>T (p.Ala430=)
NM_000388.4(CASR):c.1293G>A (p.Leu431=)
NM_000388.4(CASR):c.1293G>T (p.Leu431Phe)
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
NM_000388.4(CASR):c.1299T>G (p.Asp433Glu)
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.1324G>C (p.Gly442Arg)
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.1371G>C (p.Ala457=)
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+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.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.1426C>T (p.Gln476Ter)
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.1448G>C (p.Gly483Ala)
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.1468T>C (p.Ser490Pro)
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.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.1532dup (p.Tyr511Ter)
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.153C>T (p.Leu51=)
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.1571A>G (p.Asn524Ser)
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.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+3A>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.1609-27C>G
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.1609-6del
NM_000388.4(CASR):c.1609-7C>T
NM_000388.4(CASR):c.1609G>C (p.Val537Leu)
NM_000388.4(CASR):c.1610T>G (p.Val537Gly)
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.1625G>A (p.Cys542Tyr)
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>A (p.Leu547Met)
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.1658G>A (p.Gly553Glu)
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>A (p.Ile554Asn)
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.1666G>A (p.Glu556Lys)
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.1673A>G (p.Glu558Gly) rs1553768726
NM_000388.4(CASR):c.1675C>A (p.Pro559Thr)
NM_000388.4(CASR):c.1677C>T (p.Pro559=)
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn) rs768820665
NM_000388.4(CASR):c.1679C>T (p.Thr560Ile)
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>T (p.Cys562Phe)
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser) rs193922427
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.1694G>T (p.Cys565Phe)
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.1725T>A (p.Asp575Glu)
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+1G>C
NM_000388.4(CASR):c.1732+1_1732+10delinsTG rs1064792970
NM_000388.4(CASR):c.1732+20G>T
NM_000388.4(CASR):c.1732+2T>C
NM_000388.4(CASR):c.1732+6G>A
NM_000388.4(CASR):c.1732+6G>T
NM_000388.4(CASR):c.1732+7G>A
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.1734dup (p.Ala579fs)
NM_000388.4(CASR):c.1738_1743del (p.Ser580_Ala581del)
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
NM_000388.4(CASR):c.1742C>T (p.Ala581Val)
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.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.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.180dup (p.Ile61fs)
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.1823G>A (p.Trp608Ter)
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.1840_1843del (p.Ile614fs)
NM_000388.4(CASR):c.1841T>C (p.Ile614Thr)
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+8G>T
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.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.1868G>T (p.Gly623Val)
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.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.1911C>G (p.Phe637Leu) rs2074924937
NM_000388.4(CASR):c.1913G>C (p.Arg638Pro)
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.1927G>T (p.Val643Phe)
NM_000388.4(CASR):c.192T>C (p.Asn64=)
NM_000388.4(CASR):c.1932G>A (p.Lys644=)
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp) rs193922430
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.1985T>G (p.Phe662Cys)
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.19dup (p.Cys7fs)
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.2011G>T (p.Glu671Ter)
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.2025G>C (p.Trp675Cys)
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.2029T>C (p.Cys677Arg)
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.2053G>A (p.Gly685Ser)
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.2107C>T (p.Leu703Phe)
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro) rs886043656
NM_000388.4(CASR):c.2109C>G (p.Leu703=)
NM_000388.4(CASR):c.2110C>T (p.Leu704=)
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.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.2204del (p.Gln735fs)
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.2215T>C (p.Cys739Arg)
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.2234C>G (p.Thr745Ser)
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>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.2263G>A (p.Glu755Lys)
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.2303G>A (p.Gly768Asp)
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>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.235G>C (p.Glu79Gln)
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>A (p.Ser794Thr)
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.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.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.2447T>A (p.Ile816Asn)
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.2467C>A (p.Pro823Thr)
NM_000388.4(CASR):c.2467C>T (p.Pro823Ser) rs1576878027
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.2474A>G (p.Tyr825Cys)
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.2480G>A (p.Ser827Asn)
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.2522T>C (p.Ile841Thr)
NM_000388.4(CASR):c.2526G>A (p.Leu842=) rs1457253066
NM_000388.4(CASR):c.2526G>T (p.Leu842=)
NM_000388.4(CASR):c.2527G>A (p.Ala843Thr)
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.2550_2551insCCAG (p.Cys851fs)
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
NM_000388.4(CASR):c.2555T>A (p.Ile852Asn)
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.2568G>C (p.Lys856Asn)
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>A (p.Arg873Ser)
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.2635C>T (p.His879Tyr)
NM_000388.4(CASR):c.2637C>A (p.His879Gln) rs1576878230
NM_000388.4(CASR):c.2638G>C (p.Ala880Pro) rs763865303
NM_000388.4(CASR):c.263T>C (p.Leu88Pro)
NM_000388.4(CASR):c.2641T>C (p.Phe881Leu) rs104893704
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.2885G>A (p.Cys962Tyr)
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.2938del (p.Asp980fs)
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.2941G>A (p.Glu981Lys)
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.3017C>T (p.Thr1006Met)
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.3026_3031delinsAACACC (p.Arg1009_Glu1011delinsGlnHisGln)
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>G (p.Cys101Trp)
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.3050A>G (p.Gln1017Arg)
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.3059A>C (p.Glu1020Ala)
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>C (p.Leu1023Phe)
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.3147G>T (p.Glu1049Asp)
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.3175T>C (p.Ser1059Pro)
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.3183C>T (p.Ser1061=)
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.335del (p.Leu112fs)
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.346G>C (p.Ala116Pro)
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.357A>C (p.Lys119Asn)
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.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.394T>A (p.Ser132Thr)
NM_000388.4(CASR):c.395C>A (p.Ser132Ter)
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.443G>A (p.Gly148Asp)
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.461C>A (p.Ala154Glu)
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.470T>C (p.Leu157Pro) rs1553766286
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>G
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.493-1G>A
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.497G>T (p.Ser166Ile)
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp) rs1064795096
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.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.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>G (p.Asn176Lys)
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.540C>T (p.Phe180=)
NM_000388.4(CASR):c.543G>A (p.Lys181=) rs2074622150
NM_000388.4(CASR):c.545C>A (p.Ser182Tyr)
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.56C>A (p.Ala19Asp)
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.623_624delinsCT (p.Trp208Ser)
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.636dup (p.Ala213fs)
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.646G>A (p.Asp216Asn) rs768766649
NM_000388.4(CASR):c.647A>C (p.Asp216Ala)
NM_000388.4(CASR):c.648C>T (p.Asp216=) rs774470582
NM_000388.4(CASR):c.650A>G (p.Asp217Gly) rs886041155
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.659G>T (p.Arg220Leu)
NM_000388.4(CASR):c.660G>T (p.Arg220=)
NM_000388.4(CASR):c.661C>T (p.Pro221Ser)
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.708C>T (p.Cys236=)
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.719G>C (p.Ser240Thr)
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
NM_000388.4(CASR):c.720T>C (p.Ser240=)
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.72G>C (p.Gln24His)
NM_000388.4(CASR):c.733C>T (p.Gln245Ter) rs1553766768
NM_000388.4(CASR):c.734A>G (p.Gln245Arg)
NM_000388.4(CASR):c.737_756del (p.Tyr246fs)
NM_000388.4(CASR):c.739T>G (p.Ser247Ala)
NM_000388.4(CASR):c.740C>G (p.Ser247Cys)
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.758A>T (p.Gln253Leu)
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.793A>G (p.Lys265Glu)
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.809T>A (p.Phe270Tyr)
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
NM_000388.4(CASR):c.814A>C (p.Ser272Arg)
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.851T>C (p.Val284Ala)
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>A (p.Thr289Lys)
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.86A>G (p.Lys29Arg)
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>G (p.Ser296Arg)
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.889_903del (p.Glu297_Ser301del)
NM_000388.4(CASR):c.889del (p.Glu297fs)
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.897G>A (p.Trp299Ter)
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.902G>T (p.Ser301Ile)
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>A (p.Ala306Thr)
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.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.965T>C (p.Leu322Pro)
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.2643_2644insAlu

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