NM_000388.4(CASR):c.2237C>T (p.Ala746Val)
|
rs139417576
|
0.00021
|
NM_000388.4(CASR):c.757C>A (p.Gln253Lys)
|
rs202179597
|
0.00015
|
NM_000388.4(CASR):c.2585T>C (p.Phe862Ser)
|
rs201328344
|
0.00012
|
NM_000388.4(CASR):c.854G>A (p.Arg285Gln)
|
rs200039241
|
0.00011
|
NM_000388.4(CASR):c.740C>T (p.Ser247Phe)
|
rs200382161
|
0.00010
|
NM_000388.4(CASR):c.1510G>A (p.Val504Met)
|
rs201536450
|
0.00009
|
NM_000388.4(CASR):c.2803C>A (p.Pro935Thr)
|
rs201449422
|
0.00009
|
NM_000388.4(CASR):c.2356A>G (p.Ile786Val)
|
rs371882068
|
0.00007
|
NM_000388.4(CASR):c.3013G>A (p.Asp1005Asn)
|
rs201990892
|
0.00007
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_000388.4(CASR):c.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.779A>G (p.Gln260Arg)
|
rs200386687
|
0.00005
|
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.1913G>A (p.Arg638His)
|
rs201852643
|
0.00004
|
NM_000388.4(CASR):c.308C>T (p.Thr103Ile)
|
rs199734455
|
0.00004
|
NM_000388.4(CASR):c.3220A>G (p.Asn1074Asp)
|
rs775066593
|
0.00004
|
NM_000388.4(CASR):c.32T>C (p.Leu11Ser)
|
rs200673016
|
0.00004
|
NM_000388.4(CASR):c.1033A>G (p.Asn345Asp)
|
rs760506005
|
0.00003
|
NM_000388.4(CASR):c.1144G>A (p.Asp382Asn)
|
rs199980578
|
0.00003
|
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile)
|
rs267599574
|
0.00003
|
NM_000388.4(CASR):c.1445G>A (p.Cys482Tyr)
|
rs761468327
|
0.00003
|
NM_000388.4(CASR):c.1463A>G (p.Asn488Ser)
|
rs146739893
|
0.00003
|
NM_000388.4(CASR):c.1943G>T (p.Arg648Leu)
|
rs757736220
|
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.3118C>G (p.Gln1040Glu)
|
rs1007139212
|
0.00003
|
NM_000388.4(CASR):c.3193A>G (p.Ser1065Gly)
|
rs185453682
|
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.1377G>A (p.Gln459=)
|
rs375297380
|
0.00002
|
NM_000388.4(CASR):c.1456G>T (p.Val486Leu)
|
rs201829972
|
0.00002
|
NM_000388.4(CASR):c.1812G>C (p.Glu604Asp)
|
rs147376568
|
0.00002
|
NM_000388.4(CASR):c.2101C>T (p.Arg701Cys)
|
rs757302986
|
0.00002
|
NM_000388.4(CASR):c.2161C>T (p.Leu721Phe)
|
rs942603230
|
0.00002
|
NM_000388.4(CASR):c.220A>C (p.Met74Leu)
|
rs745377913
|
0.00002
|
NM_000388.4(CASR):c.2570T>C (p.Ile857Thr)
|
rs766445416
|
0.00002
|
NM_000388.4(CASR):c.2638G>T (p.Ala880Ser)
|
rs763865303
|
0.00002
|
NM_000388.4(CASR):c.2669G>A (p.Arg890His)
|
rs567996888
|
0.00002
|
NM_000388.4(CASR):c.2687G>A (p.Arg896His)
|
rs773552397
|
0.00002
|
NM_000388.4(CASR):c.2761G>A (p.Glu921Lys)
|
rs755629322
|
0.00002
|
NM_000388.4(CASR):c.2921C>T (p.Thr974Ile)
|
rs774943243
|
0.00002
|
NM_000388.4(CASR):c.3121C>T (p.Arg1041Trp)
|
rs193921082
|
0.00002
|
NM_000388.4(CASR):c.445G>A (p.Val149Ile)
|
rs749288251
|
0.00002
|
NM_000388.4(CASR):c.613C>T (p.Arg205Cys)
|
rs775751453
|
0.00002
|
NM_000388.4(CASR):c.712G>A (p.Asp238Asn)
|
rs373376842
|
0.00002
|
NM_000388.4(CASR):c.845A>G (p.Glu282Gly)
|
rs751540983
|
0.00002
|
NM_000388.4(CASR):c.873G>C (p.Lys291Asn)
|
rs748306088
|
0.00002
|
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.1091C>A (p.Ala364Glu)
|
rs200771541
|
0.00001
|
NM_000388.4(CASR):c.1105C>A (p.Pro369Thr)
|
rs1217895146
|
0.00001
|
NM_000388.4(CASR):c.1111G>A (p.Asp371Asn)
|
rs768952710
|
0.00001
|
NM_000388.4(CASR):c.1124G>A (p.Arg375Lys)
|
rs760190284
|
0.00001
|
NM_000388.4(CASR):c.1140T>A (p.Ser380Arg)
|
rs145869851
|
0.00001
|
NM_000388.4(CASR):c.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.1175G>A (p.Arg392Gln)
|
rs1287075426
|
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.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.1322G>A (p.Arg441Lys)
|
rs1230573005
|
0.00001
|
NM_000388.4(CASR):c.1334C>A (p.Thr445Asn)
|
rs1471887387
|
0.00001
|
NM_000388.4(CASR):c.1340G>A (p.Gly447Asp)
|
rs141315218
|
0.00001
|
NM_000388.4(CASR):c.1377+5G>T
|
rs2074639584
|
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.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.1444T>A (p.Cys482Ser)
|
rs774174934
|
0.00001
|
NM_000388.4(CASR):c.1460G>A (p.Gly487Glu)
|
rs1206946808
|
0.00001
|
NM_000388.4(CASR):c.1469C>T (p.Ser490Phe)
|
rs202112921
|
0.00001
|
NM_000388.4(CASR):c.1478A>G (p.Asn493Ser)
|
rs140347078
|
0.00001
|
NM_000388.4(CASR):c.151C>T (p.Leu51Phe)
|
rs996249687
|
0.00001
|
NM_000388.4(CASR):c.1553G>A (p.Gly518Glu)
|
rs377233360
|
0.00001
|
NM_000388.4(CASR):c.1572C>G (p.Asn524Lys)
|
rs776534485
|
0.00001
|
NM_000388.4(CASR):c.1573G>A (p.Glu525Lys)
|
rs199688157
|
0.00001
|
NM_000388.4(CASR):c.1608+3A>G
|
rs2074815932
|
0.00001
|
NM_000388.4(CASR):c.1609G>A (p.Val537Met)
|
rs1250951106
|
0.00001
|
NM_000388.4(CASR):c.172G>C (p.Val58Leu)
|
rs1161795745
|
0.00001
|
NM_000388.4(CASR):c.1774A>G (p.Asn592Asp)
|
rs2074921447
|
0.00001
|
NM_000388.4(CASR):c.1787C>T (p.Thr596Ile)
|
rs1348036340
|
0.00001
|
NM_000388.4(CASR):c.1825A>G (p.Thr609Ala)
|
rs199761731
|
0.00001
|
NM_000388.4(CASR):c.1826C>T (p.Thr609Met)
|
rs759904153
|
0.00001
|
NM_000388.4(CASR):c.1840A>T (p.Ile614Phe)
|
rs201564925
|
0.00001
|
NM_000388.4(CASR):c.1843G>A (p.Ala615Thr)
|
rs768660050
|
0.00001
|
NM_000388.4(CASR):c.185+4A>G
|
rs1576852377
|
0.00001
|
NM_000388.4(CASR):c.185+5G>C
|
rs554770681
|
0.00001
|
NM_000388.4(CASR):c.1861G>A (p.Val621Met)
|
rs751538967
|
0.00001
|
NM_000388.4(CASR):c.1906A>C (p.Lys636Gln)
|
rs779019180
|
0.00001
|
NM_000388.4(CASR):c.1912C>T (p.Arg638Cys)
|
rs1185593894
|
0.00001
|
NM_000388.4(CASR):c.1924A>G (p.Ile642Val)
|
rs894717560
|
0.00001
|
NM_000388.4(CASR):c.2012A>T (p.Glu671Val)
|
rs199957040
|
0.00001
|
NM_000388.4(CASR):c.2027C>G (p.Thr676Arg)
|
rs768204447
|
0.00001
|
NM_000388.4(CASR):c.2032C>T (p.Arg678Cys)
|
rs1196241183
|
0.00001
|
NM_000388.4(CASR):c.2048C>T (p.Ala683Val)
|
rs1449068520
|
0.00001
|
NM_000388.4(CASR):c.2102G>A (p.Arg701His)
|
rs1284532044
|
0.00001
|
NM_000388.4(CASR):c.2134A>G (p.Thr712Ala)
|
rs1060502844
|
0.00001
|
NM_000388.4(CASR):c.2135C>A (p.Thr712Asn)
|
rs746383651
|
0.00001
|
NM_000388.4(CASR):c.2147G>A (p.Arg716His)
|
rs201670662
|
0.00001
|
NM_000388.4(CASR):c.2166C>G (p.Asn722Lys)
|
rs771601139
|
0.00001
|
NM_000388.4(CASR):c.2216G>A (p.Cys739Tyr)
|
rs375468610
|
0.00001
|
NM_000388.4(CASR):c.2230T>C (p.Tyr744His)
|
rs1328499732
|
0.00001
|
NM_000388.4(CASR):c.2236G>A (p.Ala746Thr)
|
rs562364178
|
0.00001
|
NM_000388.4(CASR):c.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.2314G>A (p.Ala772Thr)
|
rs199508583
|
0.00001
|
NM_000388.4(CASR):c.232A>G (p.Ile78Val)
|
rs769294626
|
0.00001
|
NM_000388.4(CASR):c.2332G>A (p.Gly778Ser)
|
rs1479933693
|
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.249C>G (p.Ser83Arg)
|
rs1262032476
|
0.00001
|
NM_000388.4(CASR):c.2548G>A (p.Ala850Thr)
|
rs1418475623
|
0.00001
|
NM_000388.4(CASR):c.2551T>A (p.Cys851Ser)
|
rs200777304
|
0.00001
|
NM_000388.4(CASR):c.2563A>C (p.Asn855His)
|
rs2074940790
|
0.00001
|
NM_000388.4(CASR):c.256G>T (p.Ala86Ser)
|
rs1275539972
|
0.00001
|
NM_000388.4(CASR):c.2597G>A (p.Arg866His)
|
rs387907401
|
0.00001
|
NM_000388.4(CASR):c.2635C>G (p.His879Asp)
|
rs1553769153
|
0.00001
|
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr)
|
rs763865303
|
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.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.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.2807T>A (p.Leu936Gln)
|
rs1379368670
|
0.00001
|
NM_000388.4(CASR):c.2819A>C (p.Gln940Pro)
|
rs1293909274
|
0.00001
|
NM_000388.4(CASR):c.2843T>C (p.Leu948Pro)
|
rs750090767
|
0.00001
|
NM_000388.4(CASR):c.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.2938G>A (p.Asp980Asn)
|
rs1268294939
|
0.00001
|
NM_000388.4(CASR):c.2942A>G (p.Glu981Gly)
|
rs766653315
|
0.00001
|
NM_000388.4(CASR):c.2978C>T (p.Thr993Met)
|
rs758227966
|
0.00001
|
NM_000388.4(CASR):c.3011G>A (p.Ser1004Asn)
|
rs1436155766
|
0.00001
|
NM_000388.4(CASR):c.3016A>G (p.Thr1006Ala)
|
rs1381478610
|
0.00001
|
NM_000388.4(CASR):c.3026G>A (p.Arg1009Gln)
|
rs761030318
|
0.00001
|
NM_000388.4(CASR):c.3092G>A (p.Gly1031Asp)
|
rs201739901
|
0.00001
|
NM_000388.4(CASR):c.3103C>T (p.Pro1035Ser)
|
rs762383457
|
0.00001
|
NM_000388.4(CASR):c.3112G>A (p.Gly1038Arg)
|
rs764032437
|
0.00001
|
NM_000388.4(CASR):c.3197G>A (p.Gly1066Asp)
|
rs769439564
|
0.00001
|
NM_000388.4(CASR):c.3208A>T (p.Thr1070Ser)
|
rs557676527
|
0.00001
|
NM_000388.4(CASR):c.363T>A (p.Asp121Glu)
|
rs201923228
|
0.00001
|
NM_000388.4(CASR):c.40A>G (p.Thr14Ala)
|
rs199515839
|
0.00001
|
NM_000388.4(CASR):c.455C>T (p.Ala152Val)
|
rs761519187
|
0.00001
|
NM_000388.4(CASR):c.492+6C>A
|
rs765346357
|
0.00001
|
NM_000388.4(CASR):c.512G>C (p.Ser171Thr)
|
rs1220477298
|
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.572A>G (p.Glu191Gly)
|
rs772067555
|
0.00001
|
NM_000388.4(CASR):c.614G>A (p.Arg205His)
|
rs763162046
|
0.00001
|
NM_000388.4(CASR):c.649G>A (p.Asp217Asn)
|
rs201091657
|
0.00001
|
NM_000388.4(CASR):c.656G>A (p.Gly219Glu)
|
rs1237913277
|
0.00001
|
NM_000388.4(CASR):c.752A>G (p.Glu251Gly)
|
rs140418347
|
0.00001
|
NM_000388.4(CASR):c.844G>A (p.Glu282Lys)
|
rs1269873145
|
0.00001
|
NM_000388.4(CASR):c.846G>C (p.Glu282Asp)
|
rs199729084
|
0.00001
|
NM_000388.4(CASR):c.857G>A (p.Arg286His)
|
rs922511747
|
0.00001
|
NM_000388.4(CASR):c.866C>T (p.Thr289Met)
|
rs755840531
|
0.00001
|
NM_000388.4(CASR):c.921G>A (p.Met307Ile)
|
rs751095642
|
0.00001
|
NM_000388.4(CASR):c.937G>A (p.Val313Met)
|
rs200838528
|
0.00001
|
NM_000388.4(CASR):c.946G>A (p.Gly316Ser)
|
rs755997016
|
0.00001
|
NM_000388.4(CASR):c.970G>A (p.Ala324Thr)
|
rs758569521
|
0.00001
|
NM_000388.4(CASR):c.98T>G (p.Ile33Ser)
|
rs758232331
|
0.00001
|
NC_000003.11:g.(?_121489192)_(125313644_?)dup
|
|
|
NC_000003.11:g.(?_121973037)_(121973231_?)dup
|
|
|
NC_000003.12:g.(?_122254180)_(122285201_?)dup
|
|
|
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.1016C>T (p.Pro339Leu)
|
rs2074632633
|
|
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.1022A>G (p.Lys341Arg)
|
|
|
NM_000388.4(CASR):c.1024T>C (p.Ser342Pro)
|
rs2074632920
|
|
NM_000388.4(CASR):c.1034A>G (p.Asn345Ser)
|
|
|
NM_000388.4(CASR):c.1034A>T (p.Asn345Ile)
|
rs1390562571
|
|
NM_000388.4(CASR):c.1036G>C (p.Gly346Arg)
|
|
|
NM_000388.4(CASR):c.103G>T (p.Gly35Trp)
|
|
|
NM_000388.4(CASR):c.1043C>T (p.Ala348Val)
|
rs1576858988
|
|
NM_000388.4(CASR):c.1043_1044delinsAA (p.Ala348Glu)
|
rs2107632802
|
|
NM_000388.4(CASR):c.1045A>G (p.Lys349Glu)
|
rs1576859001
|
|
NM_000388.4(CASR):c.104G>A (p.Gly35Glu)
|
|
|
NM_000388.4(CASR):c.1054T>C (p.Trp352Arg)
|
rs2107632817
|
|
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)
|
rs193922419
|
|
NM_000388.4(CASR):c.1063A>G (p.Thr355Ala)
|
rs1576859014
|
|
NM_000388.4(CASR):c.1064C>G (p.Thr355Arg)
|
|
|
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.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.1096G>A (p.Gly366Arg)
|
rs2074633882
|
|
NM_000388.4(CASR):c.10T>C (p.Tyr4His)
|
rs1559955224
|
|
NM_000388.4(CASR):c.1100C>A (p.Pro367His)
|
|
|
NM_000388.4(CASR):c.1100C>T (p.Pro367Leu)
|
|
|
NM_000388.4(CASR):c.1103T>C (p.Leu368Ser)
|
rs1576859083
|
|
NM_000388.4(CASR):c.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.1114A>C (p.Thr372Pro)
|
rs571007208
|
|
NM_000388.4(CASR):c.1114A>G (p.Thr372Ala)
|
|
|
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.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.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.1144G>T (p.Asp382Tyr)
|
|
|
NM_000388.4(CASR):c.1145A>G (p.Asp382Gly)
|
|
|
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.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.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.1172T>C (p.Phe391Ser)
|
rs2074635544
|
|
NM_000388.4(CASR):c.1175G>T (p.Arg392Leu)
|
rs1287075426
|
|
NM_000388.4(CASR):c.1177C>A (p.Pro393Thr)
|
rs2107633043
|
|
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.1187C>G (p.Thr396Arg)
|
rs1576859271
|
|
NM_000388.4(CASR):c.1190G>A (p.Gly397Glu)
|
rs1210105383
|
|
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>G (p.Ser403Arg)
|
rs387907400
|
|
NM_000388.4(CASR):c.1211T>G (p.Val404Gly)
|
rs2074636577
|
|
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.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.1237C>T (p.His413Tyr)
|
rs2107633148
|
|
NM_000388.4(CASR):c.1238A>T (p.His413Leu)
|
rs1553766896
|
|
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)
|
rs193922421
|
|
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys)
|
rs1576859379
|
|
NM_000388.4(CASR):c.1259T>A (p.Val420Glu)
|
|
|
NM_000388.4(CASR):c.125T>C (p.Phe42Ser)
|
rs1553765909
|
|
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.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.1286A>G (p.His429Arg)
|
|
|
NM_000388.4(CASR):c.1287C>A (p.His429Gln)
|
rs746515147
|
|
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr)
|
rs201520875
|
|
NM_000388.4(CASR):c.1297G>T (p.Asp433Tyr)
|
|
|
NM_000388.4(CASR):c.1301T>C (p.Ile434Thr)
|
rs1375250506
|
|
NM_000388.4(CASR):c.1302A>G (p.Ile434Met)
|
rs2074638026
|
|
NM_000388.4(CASR):c.1304A>G (p.Tyr435Cys)
|
|
|
NM_000388.4(CASR):c.1304A>T (p.Tyr435Phe)
|
rs1553766913
|
|
NM_000388.4(CASR):c.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.1316C>A (p.Pro439His)
|
rs2074638314
|
|
NM_000388.4(CASR):c.1318G>C (p.Gly440Arg)
|
|
|
NM_000388.4(CASR):c.1319G>A (p.Gly440Glu)
|
|
|
NM_000388.4(CASR):c.131T>A (p.Val44Glu)
|
rs2074530498
|
|
NM_000388.4(CASR):c.1327C>T (p.Leu443Phe)
|
rs267599574
|
|
NM_000388.4(CASR):c.1328T>C (p.Leu443Pro)
|
rs2107633278
|
|
NM_000388.4(CASR):c.1331T>G (p.Phe444Cys)
|
|
|
NM_000388.4(CASR):c.1333A>C (p.Thr445Pro)
|
|
|
NM_000388.4(CASR):c.1334C>T (p.Thr445Ile)
|
rs1471887387
|
|
NM_000388.4(CASR):c.1337A>G (p.Asn446Ser)
|
rs1553766925
|
|
NM_000388.4(CASR):c.1343C>G (p.Ser448Cys)
|
|
|
NM_000388.4(CASR):c.134C>A (p.Ala45Glu)
|
rs779995504
|
|
NM_000388.4(CASR):c.134C>T (p.Ala45Val)
|
rs779995504
|
|
NM_000388.4(CASR):c.1351G>T (p.Asp451Tyr)
|
rs540006567
|
|
NM_000388.4(CASR):c.1354A>G (p.Ile452Val)
|
rs756206452
|
|
NM_000388.4(CASR):c.1354A>T (p.Ile452Phe)
|
|
|
NM_000388.4(CASR):c.1355T>A (p.Ile452Asn)
|
|
|
NM_000388.4(CASR):c.1363G>C (p.Val455Leu)
|
rs2107633315
|
|
NM_000388.4(CASR):c.1364T>C (p.Val455Ala)
|
rs2107633318
|
|
NM_000388.4(CASR):c.1370C>T (p.Ala457Val)
|
rs1553766930
|
|
NM_000388.4(CASR):c.1375C>A (p.Gln459Lys)
|
rs2074639368
|
|
NM_000388.4(CASR):c.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.1382T>A (p.Leu461Gln)
|
rs1553768082
|
|
NM_000388.4(CASR):c.1382T>C (p.Leu461Pro)
|
rs1553768082
|
|
NM_000388.4(CASR):c.1390C>G (p.Leu464Val)
|
rs778165189
|
|
NM_000388.4(CASR):c.1391T>G (p.Leu464Arg)
|
|
|
NM_000388.4(CASR):c.1394G>T (p.Arg465Leu)
|
|
|
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.1415A>C (p.Asn472Thr)
|
|
|
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.1420G>A (p.Gly474Arg)
|
rs2107643437
|
|
NM_000388.4(CASR):c.1423G>C (p.Glu475Gln)
|
rs1406184611
|
|
NM_000388.4(CASR):c.1425G>T (p.Glu475Asp)
|
rs2107643445
|
|
NM_000388.4(CASR):c.1429G>A (p.Val477Met)
|
rs1416680566
|
|
NM_000388.4(CASR):c.142G>A (p.Asp48Asn)
|
|
|
NM_000388.4(CASR):c.1439A>T (p.Asp480Val)
|
rs2074811961
|
|
NM_000388.4(CASR):c.1440T>A (p.Asp480Glu)
|
|
|
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg)
|
rs774174934
|
|
NM_000388.4(CASR):c.1445G>T (p.Cys482Phe)
|
|
|
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.1466A>G (p.Tyr489Cys)
|
rs1553768108
|
|
NM_000388.4(CASR):c.1478A>C (p.Asn493Thr)
|
rs140347078
|
|
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.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.1507A>G (p.Ile503Val)
|
rs200910001
|
|
NM_000388.4(CASR):c.1509C>G (p.Ile503Met)
|
rs757499017
|
|
NM_000388.4(CASR):c.1510G>C (p.Val504Leu)
|
rs201536450
|
|
NM_000388.4(CASR):c.1513T>C (p.Phe505Leu)
|
rs2107643628
|
|
NM_000388.4(CASR):c.1517A>C (p.Lys506Thr)
|
rs750090892
|
|
NM_000388.4(CASR):c.1526G>A (p.Gly509Glu)
|
rs1060502845
|
|
NM_000388.4(CASR):c.1526G>C (p.Gly509Ala)
|
|
|
NM_000388.4(CASR):c.1534A>G (p.Asn512Asp)
|
rs1576870447
|
|
NM_000388.4(CASR):c.1537G>A (p.Val513Ile)
|
rs866241407
|
|
NM_000388.4(CASR):c.1541A>G (p.Tyr514Cys)
|
|
|
NM_000388.4(CASR):c.154A>G (p.Lys52Glu)
|
|
|
NM_000388.4(CASR):c.1550A>T (p.Lys517Met)
|
rs2107643696
|
|
NM_000388.4(CASR):c.1552G>A (p.Gly518Arg)
|
rs2074814547
|
|
NM_000388.4(CASR):c.155A>G (p.Lys52Arg)
|
rs1553765922
|
|
NM_000388.4(CASR):c.155A>T (p.Lys52Ile)
|
|
|
NM_000388.4(CASR):c.1561C>G (p.Leu521Val)
|
|
|
NM_000388.4(CASR):c.1561C>T (p.Leu521Phe)
|
|
|
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.1567A>G (p.Ile523Val)
|
rs2107643730
|
|
NM_000388.4(CASR):c.1574A>C (p.Glu525Ala)
|
|
|
NM_000388.4(CASR):c.1574A>G (p.Glu525Gly)
|
|
|
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.1598T>A (p.Phe533Tyr)
|
|
|
NM_000388.4(CASR):c.1598T>C (p.Phe533Ser)
|
rs2107643782
|
|
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+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.1609G>C (p.Val537Leu)
|
|
|
NM_000388.4(CASR):c.1618T>A (p.Ser540Thr)
|
|
|
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe)
|
rs1057518409
|
|
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.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.163C>T (p.Pro55Ser)
|
|
|
NM_000388.4(CASR):c.1640T>C (p.Leu547Pro)
|
rs2074897267
|
|
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.1646G>A (p.Gly549Glu)
|
rs2107648266
|
|
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.1663A>G (p.Ile555Val)
|
rs777646067
|
|
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.1673A>G (p.Glu558Gly)
|
rs1553768726
|
|
NM_000388.4(CASR):c.1679C>A (p.Thr560Asn)
|
rs768820665
|
|
NM_000388.4(CASR):c.167A>T (p.Glu56Val)
|
rs2107625061
|
|
NM_000388.4(CASR):c.1681T>G (p.Cys561Gly)
|
rs2074898625
|
|
NM_000388.4(CASR):c.1682G>A (p.Cys561Tyr)
|
|
|
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
|
|
|
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>G (p.Cys565Gly)
|
rs1559967708
|
|
NM_000388.4(CASR):c.1694G>A (p.Cys565Tyr)
|
rs1553768736
|
|
NM_000388.4(CASR):c.1698G>A (p.Val566=)
|
rs2074899115
|
|
NM_000388.4(CASR):c.1699G>A (p.Glu567Lys)
|
rs868390788
|
|
NM_000388.4(CASR):c.16T>G (p.Cys6Gly)
|
rs1559955229
|
|
NM_000388.4(CASR):c.1702T>G (p.Cys568Gly)
|
rs1060502851
|
|
NM_000388.4(CASR):c.1703G>A (p.Cys568Tyr)
|
rs2107648373
|
|
NM_000388.4(CASR):c.1705C>T (p.Pro569Ser)
|
rs1271168512
|
|
NM_000388.4(CASR):c.1711G>A (p.Gly571Arg)
|
|
|
NM_000388.4(CASR):c.1714G>C (p.Glu572Gln)
|
rs2107648387
|
|
NM_000388.4(CASR):c.1723G>A (p.Asp575Asn)
|
rs2074899710
|
|
NM_000388.4(CASR):c.1728G>C (p.Glu576Asp)
|
rs2074899858
|
|
NM_000388.4(CASR):c.1732+1_1732+10delinsTG
|
rs1064792970
|
|
NM_000388.4(CASR):c.1732+6G>A
|
|
|
NM_000388.4(CASR):c.1732+6G>T
|
|
|
NM_000388.4(CASR):c.1733-13G>A
|
|
|
NM_000388.4(CASR):c.1733-7T>A
|
rs2074920505
|
|
NM_000388.4(CASR):c.1733A>G (p.Asp578Gly)
|
rs2107649336
|
|
NM_000388.4(CASR):c.1739G>A (p.Ser580Asn)
|
|
|
NM_000388.4(CASR):c.1744T>C (p.Cys582Arg)
|
|
|
NM_000388.4(CASR):c.1748A>G (p.Asn583Ser)
|
rs2074920846
|
|
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.175G>A (p.Glu59Lys)
|
rs2107625081
|
|
NM_000388.4(CASR):c.1761T>A (p.Asp587Glu)
|
|
|
NM_000388.4(CASR):c.176A>G (p.Glu59Gly)
|
|
|
NM_000388.4(CASR):c.1772C>T (p.Ser591Phe)
|
|
|
NM_000388.4(CASR):c.1775A>T (p.Asn592Ile)
|
|
|
NM_000388.4(CASR):c.1776T>A (p.Asn592Lys)
|
rs2107649392
|
|
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.1803G>C (p.Lys601Asn)
|
|
|
NM_000388.4(CASR):c.1817T>C (p.Leu606Pro)
|
rs2107649441
|
|
NM_000388.4(CASR):c.181A>C (p.Ile61Leu)
|
rs2074531605
|
|
NM_000388.4(CASR):c.1820C>T (p.Ser607Leu)
|
rs1052956823
|
|
NM_000388.4(CASR):c.1822T>C (p.Trp608Arg)
|
rs2107649456
|
|
NM_000388.4(CASR):c.1824G>C (p.Trp608Cys)
|
|
|
NM_000388.4(CASR):c.1826C>A (p.Thr609Lys)
|
rs759904153
|
|
NM_000388.4(CASR):c.1826C>G (p.Thr609Arg)
|
rs759904153
|
|
NM_000388.4(CASR):c.1829A>C (p.Glu610Ala)
|
|
|
NM_000388.4(CASR):c.1831C>T (p.Pro611Ser)
|
|
|
NM_000388.4(CASR):c.1837G>C (p.Gly613Arg)
|
rs1060502842
|
|
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.184A>C (p.Arg62=)
|
|
|
NM_000388.4(CASR):c.185+5_185+18del
|
rs1576852370
|
|
NM_000388.4(CASR):c.1852C>G (p.Leu618Val)
|
rs2074923685
|
|
NM_000388.4(CASR):c.1852C>T (p.Leu618Phe)
|
|
|
NM_000388.4(CASR):c.185G>A (p.Arg62Lys)
|
|
|
NM_000388.4(CASR):c.186-13T>G
|
|
|
NM_000388.4(CASR):c.186-3C>T
|
|
|
NM_000388.4(CASR):c.1861G>C (p.Val621Leu)
|
|
|
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.186G>A (p.Arg62=)
|
rs1414007336
|
|
NM_000388.4(CASR):c.1876C>A (p.Leu626Met)
|
rs2107649551
|
|
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.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.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.1901T>C (p.Phe634Ser)
|
rs2107649591
|
|
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.1911C>G (p.Phe637Leu)
|
rs2074924937
|
|
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu)
|
rs201852643
|
|
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.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.1942C>G (p.Arg648Gly)
|
|
|
NM_000388.4(CASR):c.1943G>A (p.Arg648Gln)
|
rs757736220
|
|
NM_000388.4(CASR):c.1948C>T (p.Leu650Phe)
|
rs1553768963
|
|
NM_000388.4(CASR):c.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.1963C>G (p.Leu655Val)
|
|
|
NM_000388.4(CASR):c.1968C>A (p.Phe656Leu)
|
rs2074926557
|
|
NM_000388.4(CASR):c.1972C>A (p.Leu658Met)
|
rs201609857
|
|
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.1984T>G (p.Phe662Val)
|
|
|
NM_000388.4(CASR):c.1987T>A (p.Ser663Thr)
|
rs2074927053
|
|
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.2000T>C (p.Phe667Ser)
|
rs2074927361
|
|
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.2009G>T (p.Gly670Val)
|
rs104893700
|
|
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.2026A>T (p.Thr676Ser)
|
rs2074927990
|
|
NM_000388.4(CASR):c.2027C>T (p.Thr676Met)
|
rs768204447
|
|
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.2045C>T (p.Pro682Leu)
|
rs1553768989
|
|
NM_000388.4(CASR):c.2046_2047delinsTT (p.Ala683Ser)
|
|
|
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.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.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.2099A>G (p.Asn700Ser)
|
rs1576877437
|
|
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.2101C>A (p.Arg701Ser)
|
rs757302986
|
|
NM_000388.4(CASR):c.2105T>C (p.Val702Ala)
|
rs1559968643
|
|
NM_000388.4(CASR):c.2108T>C (p.Leu703Pro)
|
rs886043656
|
|
NM_000388.4(CASR):c.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.2122G>A (p.Ala708Thr)
|
rs2074931493
|
|
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.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.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.2168T>G (p.Leu723Arg)
|
rs2107650069
|
|
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.2185T>C (p.Phe729Leu)
|
|
|
NM_000388.4(CASR):c.2188C>T (p.Leu730Phe)
|
|
|
NM_000388.4(CASR):c.2191T>A (p.Cys731Ser)
|
|
|
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.2200A>T (p.Met734Leu)
|
rs1286818613
|
|
NM_000388.4(CASR):c.2202G>A (p.Met734Ile)
|
rs542541990
|
|
NM_000388.4(CASR):c.2204A>C (p.Gln735Pro)
|
|
|
NM_000388.4(CASR):c.220A>G (p.Met74Val)
|
rs745377913
|
|
NM_000388.4(CASR):c.2213T>C (p.Ile738Thr)
|
rs759337909
|
|
NM_000388.4(CASR):c.2216G>C (p.Cys739Ser)
|
rs375468610
|
|
NM_000388.4(CASR):c.2231A>T (p.Tyr744Phe)
|
rs751816764
|
|
NM_000388.4(CASR):c.2239C>G (p.Pro747Ala)
|
rs1576877692
|
|
NM_000388.4(CASR):c.223A>G (p.Ile75Val)
|
|
|
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.2244_2245delinsCG (p.Ser749Ala)
|
rs2107650178
|
|
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.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.2255G>C (p.Arg752Pro)
|
rs771529256
|
|
NM_000388.4(CASR):c.2261A>C (p.Gln754Pro)
|
rs777361297
|
|
NM_000388.4(CASR):c.2264A>G (p.Glu755Gly)
|
rs2074935054
|
|
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>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.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.2298C>G (p.His766Gln)
|
|
|
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.2315C>T (p.Ala772Val)
|
rs1336598166
|
|
NM_000388.4(CASR):c.2320G>A (p.Gly774Ser)
|
|
|
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.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.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.235G>A (p.Glu79Lys)
|
rs2074562715
|
|
NM_000388.4(CASR):c.2363T>C (p.Phe788Ser)
|
|
|
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.2378A>T (p.Lys793Met)
|
|
|
NM_000388.4(CASR):c.237G>C (p.Glu79Asp)
|
rs2074562746
|
|
NM_000388.4(CASR):c.2380T>G (p.Ser794Ala)
|
|
|
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.238G>C (p.Glu80Gln)
|
|
|
NM_000388.4(CASR):c.2393C>G (p.Pro798Arg)
|
rs1060502856
|
|
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.2410G>A (p.Ala804Thr)
|
rs777219967
|
|
NM_000388.4(CASR):c.2414A>G (p.Lys805Arg)
|
|
|
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.2425T>A (p.Phe809Ile)
|
rs2074938402
|
|
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.2444T>C (p.Phe815Ser)
|
|
|
NM_000388.4(CASR):c.2446A>G (p.Ile816Val)
|
rs2107650518
|
|
NM_000388.4(CASR):c.2448C>A (p.Ile816=)
|
rs781343891
|
|
NM_000388.4(CASR):c.2448C>G (p.Ile816Met)
|
rs781343891
|
|
NM_000388.4(CASR):c.2449G>C (p.Val817Leu)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2454G>T (p.Trp818Cys)
|
|
|
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala)
|
rs2074939020
|
|
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.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.2477C>G (p.Ala826Gly)
|
rs2074939465
|
|
NM_000388.4(CASR):c.2477C>T (p.Ala826Val)
|
rs2074939465
|
|
NM_000388.4(CASR):c.2495T>C (p.Phe832Ser)
|
rs2107650603
|
|
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.2506G>A (p.Val836Ile)
|
|
|
NM_000388.4(CASR):c.2506G>C (p.Val836Leu)
|
rs2107650629
|
|
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>T (p.Glu837Asp)
|
|
|
NM_000388.4(CASR):c.2513T>C (p.Val838Ala)
|
|
|
NM_000388.4(CASR):c.2519C>T (p.Ala840Val)
|
rs1553769127
|
|
NM_000388.4(CASR):c.2521A>T (p.Ile841Phe)
|
|
|
NM_000388.4(CASR):c.2530G>A (p.Ala844Thr)
|
|
|
NM_000388.4(CASR):c.2533A>C (p.Ser845Arg)
|
rs1576878096
|
|
NM_000388.4(CASR):c.2534G>A (p.Ser845Asn)
|
|
|
NM_000388.4(CASR):c.2539G>A (p.Gly847Ser)
|
|
|
NM_000388.4(CASR):c.2546T>A (p.Leu849Gln)
|
|
|
NM_000388.4(CASR):c.2546T>C (p.Leu849Pro)
|
rs2074940343
|
|
NM_000388.4(CASR):c.2549C>A (p.Ala850Glu)
|
rs373819680
|
|
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
|
rs373819680
|
|
NM_000388.4(CASR):c.2549C>T (p.Ala850Val)
|
|
|
NM_000388.4(CASR):c.2552G>C (p.Cys851Ser)
|
|
|
NM_000388.4(CASR):c.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.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.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.25G>T (p.Val9Phe)
|
|
|
NM_000388.4(CASR):c.2608G>A (p.Glu870Lys)
|
|
|
NM_000388.4(CASR):c.2614G>A (p.Val872Met)
|
|
|
NM_000388.4(CASR):c.2617C>T (p.Arg873Cys)
|
rs2074941878
|
|
NM_000388.4(CASR):c.2618G>A (p.Arg873His)
|
|
|
NM_000388.4(CASR):c.2618G>C (p.Arg873Pro)
|
rs2107650838
|
|
NM_000388.4(CASR):c.2623A>C (p.Ser875Arg)
|
rs2107650843
|
|
NM_000388.4(CASR):c.2627C>T (p.Thr876Ile)
|
rs1576878212
|
|
NM_000388.4(CASR):c.2629G>A (p.Ala877Thr)
|
rs2107650865
|
|
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.2645A>G (p.Lys882Arg)
|
rs1553769162
|
|
NM_000388.4(CASR):c.2650G>T (p.Ala884Ser)
|
|
|
NM_000388.4(CASR):c.2656C>G (p.Arg886Gly)
|
|
|
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln)
|
rs1057520791
|
|
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.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.2680G>C (p.Val894Leu)
|
rs200883282
|
|
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.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.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.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.2729C>G (p.Pro910Arg)
|
rs1219288084
|
|
NM_000388.4(CASR):c.2731TCC[4] (p.Ser913_Ile914insSer)
|
|
|
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.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.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.2776C>T (p.Gln926Ter)
|
rs2107651172
|
|
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.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.2810C>T (p.Ala937Val)
|
|
|
NM_000388.4(CASR):c.2812C>A (p.Leu938Ile)
|
rs2074946372
|
|
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>T (p.Glu942Asp)
|
rs2107651299
|
|
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.2842_2880dup (p.Leu948_Pro960dup)
|
rs1559969726
|
|
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.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.2870AGC[2] (p.Gln959del)
|
rs2107651405
|
|
NM_000388.4(CASR):c.2872C>A (p.Gln958Lys)
|
rs2074947724
|
|
NM_000388.4(CASR):c.2875C>A (p.Gln959Lys)
|
rs2107651420
|
|
NM_000388.4(CASR):c.2877del (p.Gln959fs)
|
rs2107651423
|
|
NM_000388.4(CASR):c.2878C>T (p.Pro960Ser)
|
rs1352202616
|
|
NM_000388.4(CASR):c.2879C>T (p.Pro960Leu)
|
|
|
NM_000388.4(CASR):c.2881A>G (p.Arg961Gly)
|
rs2074947830
|
|
NM_000388.4(CASR):c.2888A>G (p.Lys963Arg)
|
|
|
NM_000388.4(CASR):c.2888_*474del (p.Lys963fs)
|
|
|
NM_000388.4(CASR):c.2889G>C (p.Lys963Asn)
|
rs1060502859
|
|
NM_000388.4(CASR):c.2889G>T (p.Lys963Asn)
|
|
|
NM_000388.4(CASR):c.2890C>G (p.Gln964Glu)
|
rs2074948026
|
|
NM_000388.4(CASR):c.2895G>T (p.Lys965Asn)
|
rs1251254766
|
|
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.2903T>C (p.Phe968Ser)
|
rs2107651496
|
|
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.2915C>G (p.Thr972Arg)
|
|
|
NM_000388.4(CASR):c.291A>G (p.Ile97Met)
|
rs1370844938
|
|
NM_000388.4(CASR):c.293T>A (p.Phe98Tyr)
|
rs2074563967
|
|
NM_000388.4(CASR):c.293T>C (p.Phe98Ser)
|
rs2074563967
|
|
NM_000388.4(CASR):c.2942A>T (p.Glu981Val)
|
rs766653315
|
|
NM_000388.4(CASR):c.2944C>A (p.Pro982Thr)
|
rs387907395
|
|
NM_000388.4(CASR):c.2945C>G (p.Pro982Arg)
|
|
|
NM_000388.4(CASR):c.2948A>G (p.Gln983Arg)
|
rs878853975
|
|
NM_000388.4(CASR):c.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>C (p.Lys984Asn)
|
|
|
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.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.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.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.3020T>A (p.Leu1007Gln)
|
rs200238591
|
|
NM_000388.4(CASR):c.3022A>C (p.Thr1008Pro)
|
|
|
NM_000388.4(CASR):c.3025C>G (p.Arg1009Gly)
|
rs1256856876
|
|
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter)
|
rs1256856876
|
|
NM_000388.4(CASR):c.3029A>G (p.His1010Arg)
|
rs547957679
|
|
NM_000388.4(CASR):c.302G>C (p.Cys101Ser)
|
|
|
NM_000388.4(CASR):c.3030_3031delinsAC (p.His1010_Glu1011delinsGlnGln)
|
rs386665242
|
|
NM_000388.4(CASR):c.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.3040C>A (p.Leu1014Ile)
|
rs202219108
|
|
NM_000388.4(CASR):c.3040C>T (p.Leu1014Phe)
|
rs202219108
|
|
NM_000388.4(CASR):c.3044del (p.Pro1015fs)
|
rs2074952162
|
|
NM_000388.4(CASR):c.3047T>C (p.Leu1016Pro)
|
rs755151413
|
|
NM_000388.4(CASR):c.3050A>C (p.Gln1017Pro)
|
rs779116209
|
|
NM_000388.4(CASR):c.3052T>C (p.Cys1018Arg)
|
|
|
NM_000388.4(CASR):c.3052T>G (p.Cys1018Gly)
|
|
|
NM_000388.4(CASR):c.3056G>A (p.Gly1019Glu)
|
|
|
NM_000388.4(CASR):c.3058G>C (p.Glu1020Gln)
|
rs1060502858
|
|
NM_000388.4(CASR):c.3058del (p.Glu1020fs)
|
|
|
NM_000388.4(CASR):c.3062C>A (p.Thr1021Lys)
|
rs759009566
|
|
NM_000388.4(CASR):c.3062C>G (p.Thr1021Arg)
|
rs759009566
|
|
NM_000388.4(CASR):c.3062C>T (p.Thr1021Met)
|
rs759009566
|
|
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn)
|
rs2107651862
|
|
NM_000388.4(CASR):c.3070G>T (p.Asp1024Tyr)
|
rs2107651875
|
|
NM_000388.4(CASR):c.3073C>G (p.Leu1025Val)
|
|
|
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.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.3118C>T (p.Gln1040Ter)
|
rs1007139212
|
|
NM_000388.4(CASR):c.3120G>T (p.Gln1040His)
|
rs2107651962
|
|
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>C (p.Glu1045Asp)
|
rs765519865
|
|
NM_000388.4(CASR):c.3138C>A (p.Asp1046Glu)
|
rs878853977
|
|
NM_000388.4(CASR):c.3142G>A (p.Glu1048Lys)
|
rs758535387
|
|
NM_000388.4(CASR):c.3145G>T (p.Glu1049Ter)
|
rs2107652017
|
|
NM_000388.4(CASR):c.3150G>C (p.Leu1050Phe)
|
rs2107652019
|
|
NM_000388.4(CASR):c.3163G>A (p.Val1055Ile)
|
rs1245761983
|
|
NM_000388.4(CASR):c.3166G>C (p.Val1056Leu)
|
rs2074954670
|
|
NM_000388.4(CASR):c.3167T>C (p.Val1056Ala)
|
|
|
NM_000388.4(CASR):c.3169T>A (p.Ser1057Thr)
|
rs1553769334
|
|
NM_000388.4(CASR):c.3169T>C (p.Ser1057Pro)
|
|
|
NM_000388.4(CASR):c.316A>G (p.Lys106Glu)
|
|
|
NM_000388.4(CASR):c.3172A>G (p.Ser1058Gly)
|
rs2074954886
|
|
NM_000388.4(CASR):c.3173G>A (p.Ser1058Asn)
|
|
|
NM_000388.4(CASR):c.3180G>C (p.Gln1060His)
|
rs2107652073
|
|
NM_000388.4(CASR):c.3182G>A (p.Ser1061Asn)
|
rs2074954983
|
|
NM_000388.4(CASR):c.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.3203G>A (p.Gly1068Asp)
|
rs1193543664
|
|
NM_000388.4(CASR):c.3203G>C (p.Gly1068Ala)
|
|
|
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.3221del (p.Asn1074fs)
|
rs2074955500
|
|
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.323T>C (p.Leu108Ser)
|
rs1553766242
|
|
NM_000388.4(CASR):c.328G>C (p.Ala110Pro)
|
|
|
NM_000388.4(CASR):c.329C>A (p.Ala110Asp)
|
rs1559956624
|
|
NM_000388.4(CASR):c.329C>T (p.Ala110Val)
|
|
|
NM_000388.4(CASR):c.335T>C (p.Leu112Pro)
|
rs2107627647
|
|
NM_000388.4(CASR):c.33G>A (p.Leu11=)
|
rs1302047092
|
|
NM_000388.4(CASR):c.341T>C (p.Phe114Ser)
|
rs1553766245
|
|
NM_000388.4(CASR):c.347C>G (p.Ala116Gly)
|
|
|
NM_000388.4(CASR):c.350A>C (p.Gln117Pro)
|
rs2074564685
|
|
NM_000388.4(CASR):c.352A>G (p.Asn118Asp)
|
|
|
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.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.382T>A (p.Phe128Ile)
|
rs104893696
|
|
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>T (p.Ser132Leu)
|
rs1060502857
|
|
NM_000388.4(CASR):c.399G>C (p.Glu133Asp)
|
|
|
NM_000388.4(CASR):c.400C>T (p.His134Tyr)
|
rs2074565597
|
|
NM_000388.4(CASR):c.412A>G (p.Thr138Ala)
|
|
|
NM_000388.4(CASR):c.413C>G (p.Thr138Arg)
|
|
|
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.421G>A (p.Val141Met)
|
|
|
NM_000388.4(CASR):c.423G>A (p.Val141=)
|
rs2074565871
|
|
NM_000388.4(CASR):c.434C>T (p.Thr145Ile)
|
|
|
NM_000388.4(CASR):c.437G>A (p.Gly146Asp)
|
rs2107627807
|
|
NM_000388.4(CASR):c.442G>A (p.Gly148Ser)
|
|
|
NM_000388.4(CASR):c.446T>C (p.Val149Ala)
|
|
|
NM_000388.4(CASR):c.449C>T (p.Ser150Phe)
|
rs1559956735
|
|
NM_000388.4(CASR):c.457G>A (p.Val153Met)
|
|
|
NM_000388.4(CASR):c.458T>A (p.Val153Glu)
|
|
|
NM_000388.4(CASR):c.460G>A (p.Ala154Thr)
|
|
|
NM_000388.4(CASR):c.460G>C (p.Ala154Pro)
|
rs1559956753
|
|
NM_000388.4(CASR):c.463A>G (p.Asn155Asp)
|
rs1553766282
|
|
NM_000388.4(CASR):c.464A>T (p.Asn155Ile)
|
|
|
NM_000388.4(CASR):c.467T>C (p.Leu156Pro)
|
rs2107627878
|
|
NM_000388.4(CASR):c.46C>T (p.His16Tyr)
|
|
|
NM_000388.4(CASR):c.473G>A (p.Gly158Glu)
|
rs2074566747
|
|
NM_000388.4(CASR):c.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.491A>G (p.Gln164Arg)
|
rs2074567065
|
|
NM_000388.4(CASR):c.492+4C>T
|
|
|
NM_000388.4(CASR):c.492+6C>T
|
rs765346357
|
|
NM_000388.4(CASR):c.492G>A (p.Gln164=)
|
rs2107627922
|
|
NM_000388.4(CASR):c.493-12G>A
|
rs199514129
|
|
NM_000388.4(CASR):c.493G>A (p.Val165Ile)
|
|
|
NM_000388.4(CASR):c.494T>G (p.Val165Gly)
|
rs1559958757
|
|
NM_000388.4(CASR):c.496A>C (p.Ser166Arg)
|
rs193922441
|
|
NM_000388.4(CASR):c.496A>G (p.Ser166Gly)
|
rs193922441
|
|
NM_000388.4(CASR):c.497G>A (p.Ser166Asn)
|
|
|
NM_000388.4(CASR):c.499T>G (p.Tyr167Asp)
|
rs1064795096
|
|
NM_000388.4(CASR):c.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.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.521T>C (p.Leu174Pro)
|
|
|
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.531G>T (p.Lys177Asn)
|
rs2074621897
|
|
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.545C>G (p.Ser182Cys)
|
|
|
NM_000388.4(CASR):c.545C>T (p.Ser182Phe)
|
rs1576857952
|
|
NM_000388.4(CASR):c.549C>G (p.Phe183Leu)
|
rs779857648
|
|
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.554G>T (p.Arg185Leu)
|
rs104893689
|
|
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.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.568G>A (p.Asp190Asn)
|
|
|
NM_000388.4(CASR):c.569A>G (p.Asp190Gly)
|
|
|
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.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.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.623G>C (p.Trp208Ser)
|
rs2074623917
|
|
NM_000388.4(CASR):c.626T>C (p.Val209Ala)
|
|
|
NM_000388.4(CASR):c.628G>T (p.Gly210Cys)
|
rs2107631971
|
|
NM_000388.4(CASR):c.632C>T (p.Thr211Ile)
|
rs2074624103
|
|
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.638C>T (p.Ala213Val)
|
rs1559958979
|
|
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.652T>A (p.Tyr218Asn)
|
|
|
NM_000388.4(CASR):c.652T>C (p.Tyr218His)
|
rs1057520583
|
|
NM_000388.4(CASR):c.655G>T (p.Gly219Trp)
|
rs2107632049
|
|
NM_000388.4(CASR):c.662C>A (p.Pro221Gln)
|
rs397514728
|
|
NM_000388.4(CASR):c.665G>A (p.Gly222Glu)
|
|
|
NM_000388.4(CASR):c.672G>C (p.Glu224Asp)
|
|
|
NM_000388.4(CASR):c.67G>A (p.Asp23Asn)
|
rs2107624826
|
|
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.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.712G>C (p.Asp238His)
|
rs373376842
|
|
NM_000388.4(CASR):c.715T>G (p.Phe239Val)
|
|
|
NM_000388.4(CASR):c.718A>G (p.Ser240Gly)
|
rs200878437
|
|
NM_000388.4(CASR):c.71A>G (p.Gln24Arg)
|
|
|
NM_000388.4(CASR):c.721G>A (p.Glu241Lys)
|
rs2107632158
|
|
NM_000388.4(CASR):c.725T>C (p.Leu242Pro)
|
rs1064794676
|
|
NM_000388.4(CASR):c.727A>G (p.Ile243Val)
|
|
|
NM_000388.4(CASR):c.729C>G (p.Ile243Met)
|
|
|
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>G (p.Ile252Met)
|
|
|
NM_000388.4(CASR):c.766G>A (p.Val256Ile)
|
|
|
NM_000388.4(CASR):c.767T>C (p.Val256Ala)
|
rs2074626876
|
|
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.788C>T (p.Thr263Met)
|
rs201456938
|
|
NM_000388.4(CASR):c.791C>T (p.Ala264Val)
|
|
|
NM_000388.4(CASR):c.796G>A (p.Val266Ile)
|
rs2074627422
|
|
NM_000388.4(CASR):c.797T>G (p.Val266Gly)
|
|
|
NM_000388.4(CASR):c.802G>A (p.Val268Met)
|
rs2074627507
|
|
NM_000388.4(CASR):c.811T>C (p.Ser271Pro)
|
|
|
NM_000388.4(CASR):c.814A>G (p.Ser272Gly)
|
|
|
NM_000388.4(CASR):c.815G>A (p.Ser272Asn)
|
rs1576858432
|
|
NM_000388.4(CASR):c.816T>A (p.Ser272Arg)
|
rs2107632311
|
|
NM_000388.4(CASR):c.818G>C (p.Gly273Ala)
|
rs2074627937
|
|
NM_000388.4(CASR):c.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>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.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.850G>A (p.Val284Ile)
|
|
|
NM_000388.4(CASR):c.853C>T (p.Arg285Trp)
|
rs1553766800
|
|
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.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.865A>G (p.Thr289Ala)
|
rs1559959294
|
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NM_000388.4(CASR):c.866C>G (p.Thr289Arg)
|
rs755840531
|
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NM_000388.4(CASR):c.869G>A (p.Gly290Asp)
|
|
|
NM_000388.4(CASR):c.883G>A (p.Ala295Thr)
|
rs1289972038
|
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NM_000388.4(CASR):c.884C>G (p.Ala295Gly)
|
rs1559959332
|
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NM_000388.4(CASR):c.884C>T (p.Ala295Val)
|
|
|
NM_000388.4(CASR):c.889G>C (p.Glu297Gln)
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rs121909259
|
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NM_000388.4(CASR):c.88G>C (p.Gly30Arg)
|
|
|
NM_000388.4(CASR):c.893C>A (p.Ala298Asp)
|
|
|
NM_000388.4(CASR):c.893C>T (p.Ala298Val)
|
rs1064797049
|
|
NM_000388.4(CASR):c.89G>A (p.Gly30Glu)
|
rs1553765889
|
|
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.90G>T (p.Gly30=)
|
rs1055397172
|
|
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
|
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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.938T>A (p.Val313Glu)
|
|
|
NM_000388.4(CASR):c.938T>C (p.Val313Ala)
|
|
|
NM_000388.4(CASR):c.944G>A (p.Gly315Asp)
|
rs1389231880
|
|
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.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.961G>A (p.Ala321Thr)
|
rs2074631702
|
|
NM_000388.4(CASR):c.961G>T (p.Ala321Ser)
|
|
|
NM_000388.4(CASR):c.968A>C (p.Lys323Thr)
|
rs1382062409
|
|
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.977A>T (p.Gln326Leu)
|
|
|
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.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.995A>G (p.Glu332Gly)
|
|
|
NM_000388.4(CASR):c.9T>G (p.Phe3Leu)
|
rs764556468
|
|