ClinVar Miner

List of variants in gene DSP reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 556
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HGVS dbSNP
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393
NM_004415.4(DSP):c.1045-3C>T
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys) rs1187569405
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met) rs780626687
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692
NM_004415.4(DSP):c.1074G>C (p.Trp358Cys)
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459
NM_004415.4(DSP):c.108C>T (p.Gly36=)
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe) rs794728112
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578
NM_004415.4(DSP):c.1112A>C (p.His371Pro) rs397516912
NM_004415.4(DSP):c.1112A>G (p.His371Arg) rs397516912
NM_004415.4(DSP):c.1115T>C (p.Leu372Pro)
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1165G>A (p.Glu389Lys)
NM_004415.4(DSP):c.1222A>C (p.Asn408His)
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021
NM_004415.4(DSP):c.1254C>G (p.Ile418Met) rs752264359
NM_004415.4(DSP):c.1266G>C (p.Glu422Asp)
NM_004415.4(DSP):c.1268A>G (p.Lys423Arg)
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu) rs397516916
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884
NM_004415.4(DSP):c.1308G>C (p.Gln436His) rs1057522715
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969
NM_004415.4(DSP):c.1335T>G (p.Ile445Met)
NM_004415.4(DSP):c.1350_1351insTTA (p.Arg451_Asn452insLeu) rs1581802595
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly)
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.136G>A (p.Gly46Ser) rs371517189
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala) rs749422119
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872
NM_004415.4(DSP):c.1382T>C (p.Ile461Thr) rs1554106853
NM_004415.4(DSP):c.1392A>C (p.Arg464Ser) rs1403332231
NM_004415.4(DSP):c.1413A>G (p.Gln471=)
NM_004415.4(DSP):c.1419+5G>C rs1004508873
NM_004415.4(DSP):c.1420-3C>T
NM_004415.4(DSP):c.1441G>A (p.Glu481Lys)
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg) rs746816016
NM_004415.4(DSP):c.1445G>A (p.Cys482Tyr)
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091
NM_004415.4(DSP):c.146C>G (p.Thr49Ser) rs151153655
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
NM_004415.4(DSP):c.1522G>A (p.Val508Met)
NM_004415.4(DSP):c.1534A>G (p.Ile512Val)
NM_004415.4(DSP):c.1544C>T (p.Pro515Leu) rs730880079
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1558G>T (p.Val520Leu) rs777545428
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe) rs1276338018
NM_004415.4(DSP):c.1574+3A>G rs1231896749
NM_004415.4(DSP):c.1575-4_1575-3del
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
NM_004415.4(DSP):c.1603G>C (p.Ala535Pro)
NM_004415.4(DSP):c.1615C>A (p.Gln539Lys)
NM_004415.4(DSP):c.1663A>T (p.Ile555Phe)
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.4(DSP):c.170+5G>A rs727502996
NM_004415.4(DSP):c.170+5G>C
NM_004415.4(DSP):c.170+5del rs1554104240
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln) rs370531666
NM_004415.4(DSP):c.1730T>C (p.Met577Thr) rs141956992
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101
NM_004415.4(DSP):c.174A>G (p.Gln58=)
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
NM_004415.4(DSP):c.178G>A (p.Gly60Ser)
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792
NM_004415.4(DSP):c.1901C>A (p.Thr634Lys)
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486
NM_004415.4(DSP):c.1902A>G (p.Thr634=)
NM_004415.4(DSP):c.1903+3C>T
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1919T>C (p.Ile640Thr)
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440
NM_004415.4(DSP):c.194A>G (p.His65Arg) rs771190708
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1960G>A (p.Val654Ile) rs375629257
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
NM_004415.4(DSP):c.2023A>G (p.Ile675Val) rs142619902
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys)
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe) rs1363445022
NM_004415.4(DSP):c.2075C>T (p.Pro692Leu) rs1561690890
NM_004415.4(DSP):c.2077C>G (p.Leu693Val) rs1339486272
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe) rs1431507005
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922
NM_004415.4(DSP):c.2164G>T (p.Val722Phe) rs1581808686
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu) rs750383681
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu) rs1306942907
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2204G>T (p.Gly735Val)
NM_004415.4(DSP):c.227A>G (p.Gln76Arg) rs1581790962
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly) rs557966264
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397
NM_004415.4(DSP):c.2403G>A (p.Leu801=)
NM_004415.4(DSP):c.2408A>C (p.Lys803Thr)
NM_004415.4(DSP):c.2423G>A (p.Arg808His) rs372906646
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu) rs1395903631
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182
NM_004415.4(DSP):c.2482A>G (p.Met828Val) rs1338201926
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup) rs730880373
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.4(DSP):c.2597G>A (p.Arg866His) rs764965132
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu) rs794728118
NM_004415.4(DSP):c.2622C>G (p.Ile874Met) rs751067479
NM_004415.4(DSP):c.2629A>C (p.Arg877=) rs1581810753
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.4(DSP):c.2675G>A (p.Arg892His) rs758592774
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn)
NM_004415.4(DSP):c.273+5G>A rs200473206
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe) rs1481929065
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
NM_004415.4(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.4(DSP):c.2886G>C (p.Glu962Asp)
NM_004415.4(DSP):c.2893C>G (p.Leu965Val)
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro) rs1581813405
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402
NM_004415.4(DSP):c.2948C>T (p.Thr983Ile)
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe) rs746346559
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.4(DSP):c.2T>G (p.Met1Arg) rs748738880
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp) rs772551736
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg) rs766388963
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139
NM_004415.4(DSP):c.3103G>A (p.Glu1035Lys)
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val) rs397516931
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu) rs751361395
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys) rs563387839
NM_004415.4(DSP):c.3190A>G (p.Lys1064Glu)
NM_004415.4(DSP):c.3230C>T (p.Ala1077Val)
NM_004415.4(DSP):c.3238G>A (p.Glu1080Lys)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3275C>T (p.Ser1092Leu)
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr) rs1185986064
NM_004415.4(DSP):c.328T>C (p.Cys110Arg) rs1554105823
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu) rs535762713
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly) rs757539604
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser) rs771948271
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro) rs1581815458
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
NM_004415.4(DSP):c.3469A>C (p.Lys1157Gln)
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr) rs762449180
NM_004415.4(DSP):c.3530T>A (p.Leu1177Gln) rs770489625
NM_004415.4(DSP):c.3559G>A (p.Glu1187Lys)
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys) rs866149042
NM_004415.4(DSP):c.3573G>T (p.Glu1191Asp)
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val)
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser) rs770484693
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680
NM_004415.4(DSP):c.3684A>C (p.Lys1228Asn)
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup)
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala) rs1581816117
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe) rs752645827
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755
NM_004415.4(DSP):c.3742G>C (p.Asp1248His)
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile) rs778448699
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser) rs1561697968
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu) rs748733750
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln) rs759698959
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln) rs876657795
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr) rs1285435504
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val) rs753270443
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3854T>G (p.Met1285Arg)
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665
NM_004415.4(DSP):c.3896T>C (p.Met1299Thr)
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys) rs775594375
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299
NM_004415.4(DSP):c.4002T>G (p.Phe1334Leu)
NM_004415.4(DSP):c.4019G>A (p.Arg1340His) rs765247380
NM_004415.4(DSP):c.4022G>A (p.Arg1341His) rs112242645
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638
NM_004415.4(DSP):c.4061A>G (p.Asn1354Ser)
NM_004415.4(DSP):c.408T>G (p.Asp136Glu)
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile) rs530481219
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn)
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala) rs200745877
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln) rs748109826
NM_004415.4(DSP):c.422+3A>G
NM_004415.4(DSP):c.4226_4228del (p.Ile1409del)
NM_004415.4(DSP):c.422G>C (p.Arg141Thr) rs969373062
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser) rs763489227
NM_004415.4(DSP):c.4276G>A (p.Val1426Met)
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695
NM_004415.4(DSP):c.4371G>C (p.Met1457Ile)
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434
NM_004415.4(DSP):c.4373G>T (p.Arg1458Leu)
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523
NM_004415.4(DSP):c.4396A>G (p.Lys1466Glu) rs1561698838
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly)
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln) rs727505037
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu) rs794728122
NM_004415.4(DSP):c.44G>A (p.Gly15Asp)
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met) rs375150075
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val) rs145796901
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn) rs750607476
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
NM_004415.4(DSP):c.4649C>G (p.Thr1550Ser) rs928167721
NM_004415.4(DSP):c.4670C>T (p.Thr1557Met) rs747582734
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro) rs1394590334
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
NM_004415.4(DSP):c.4750G>T (p.Ala1584Ser)
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004
NM_004415.4(DSP):c.475C>T (p.Pro159Ser)
NM_004415.4(DSP):c.4767C>T (p.Cys1589=)
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.4(DSP):c.4793T>A (p.Leu1598Gln)
NM_004415.4(DSP):c.479G>A (p.Arg160Gln) rs752941845
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr) rs1581818435
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp) rs973569441
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891
NM_004415.4(DSP):c.5006T>C (p.Leu1669Pro)
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp) rs773113214
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val) rs372288373
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783
NM_004415.4(DSP):c.5161_5163GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp) rs200336897
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys) rs750854585
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619
NM_004415.4(DSP):c.526A>G (p.Ser176Gly)
NM_004415.4(DSP):c.5305C>A (p.Leu1769Met)
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426
NM_004415.4(DSP):c.5327A>G (p.Glu1776Gly) rs1363204936
NM_004415.4(DSP):c.5353G>A (p.Glu1785Lys) rs528041468
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146
NM_004415.4(DSP):c.5380-1G>C
NM_004415.4(DSP):c.5412G>T (p.Gln1804His) rs779809935
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr) rs768161038
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe) rs768161038
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.4(DSP):c.557A>G (p.His186Arg) rs1033990351
NM_004415.4(DSP):c.55C>A (p.Arg19Ser) rs777340009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)
NM_004415.4(DSP):c.568G>A (p.Glu190Lys)
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys) rs751447598
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln) rs397516948
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104
NM_004415.4(DSP):c.5789C>G (p.Thr1930Arg) rs794728126
NM_004415.4(DSP):c.578G>T (p.Gly193Val) rs750350474
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His) rs767259019
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076
NM_004415.4(DSP):c.5896C>G (p.Leu1966Val) rs1554108700
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950
NM_004415.4(DSP):c.5920A>G (p.Lys1974Glu) rs1561701683
NM_004415.4(DSP):c.5932A>G (p.Met1978Val) rs770077556
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn) rs759443302
NM_004415.4(DSP):c.596G>A (p.Arg199Lys) rs143648545
NM_004415.4(DSP):c.597+2_597+5dup
NM_004415.4(DSP):c.5976C>A (p.Asp1992Glu) rs763921000
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
NM_004415.4(DSP):c.600G>A (p.Ala200=) rs748400605
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.4(DSP):c.6046G>A (p.Gly2016Arg)
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly) rs760673242
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln) rs185846631
NM_004415.4(DSP):c.612G>C (p.Met204Ile)
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
NM_004415.4(DSP):c.6224G>A (p.Arg2075Gln)
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr) rs377035113
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly) rs370093129
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009
NM_004415.4(DSP):c.6260A>G (p.Tyr2087Cys)
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly) rs755069593
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu) rs149513743
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975
NM_004415.4(DSP):c.634G>A (p.Ala212Thr) rs1028793473
NM_004415.4(DSP):c.6359C>T (p.Thr2120Ile)
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser) rs765687440
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln) rs367759510
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln) rs771692503
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu) rs746533703
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp) rs767661570
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967
NM_004415.4(DSP):c.6595C>T (p.Leu2199Phe)
NM_004415.4(DSP):c.663C>G (p.His221Gln) rs1561683654
NM_004415.4(DSP):c.664C>T (p.Arg222Trp) rs1233981969
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.4(DSP):c.668G>A (p.Gly223Asp) rs199509943
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6769T>G (p.Ser2257Ala)
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe) rs754635738
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
NM_004415.4(DSP):c.6812A>C (p.Lys2271Thr) rs730880089
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr) rs377085222
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr) rs773192441
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu) rs768837509
NM_004415.4(DSP):c.7128G>T (p.Gly2376=)
NM_004415.4(DSP):c.7154G>A (p.Arg2385His) rs1396768987
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
NM_004415.4(DSP):c.7284A>G (p.Gln2428=)
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly) rs794728132
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7339A>G (p.Lys2447Glu)
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn) rs755448403
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr) rs1581823888
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe)
NM_004415.4(DSP):c.7396G>A (p.Val2466Met)
NM_004415.4(DSP):c.740C>T (p.Ala247Val)
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
NM_004415.4(DSP):c.7604A>G (p.Asp2535Gly)
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe) rs1490279963
NM_004415.4(DSP):c.7650C>T (p.Gly2550=)
NM_004415.4(DSP):c.7657A>G (p.Ser2553Gly)
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
NM_004415.4(DSP):c.7689_7694dup (p.Asn2565_Gly2566insLysLys) rs1554109062
NM_004415.4(DSP):c.769A>G (p.Asn257Asp)
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
NM_004415.4(DSP):c.7716C>T (p.Ser2572=)
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr) rs770590535
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888
NM_004415.4(DSP):c.7819A>G (p.Ser2607Gly)
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser) rs397516959
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val) rs767630308
NM_004415.4(DSP):c.7861G>A (p.Ala2621Thr) rs1554109107
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val) rs752616130
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948
NM_004415.4(DSP):c.7907G>A (p.Gly2636Asp)
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys)
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met) rs1425701789
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala)
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp) rs750085948
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
NM_004415.4(DSP):c.8052G>A (p.Met2684Ile)
NM_004415.4(DSP):c.8053G>T (p.Ala2685Ser)
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys) rs764994940
NM_004415.4(DSP):c.8087T>C (p.Ile2696Thr)
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met) rs537588390
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8123C>T (p.Ser2708Leu) rs1194266904
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp)
NM_004415.4(DSP):c.8137G>A (p.Val2713Met)
NM_004415.4(DSP):c.8138T>G (p.Val2713Gly)
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569
NM_004415.4(DSP):c.8171A>G (p.Gln2724Arg)
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8201G>A (p.Gly2734Glu) rs1561705241
NM_004415.4(DSP):c.8210T>C (p.Val2737Ala) rs794728155
NM_004415.4(DSP):c.8216C>G (p.Pro2739Arg) rs761527198
NM_004415.4(DSP):c.8235A>G (p.Ile2745Met)
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539
NM_004415.4(DSP):c.8255G>C (p.Arg2752Pro)
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr) rs991726607
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288
NM_004415.4(DSP):c.8284C>T (p.Gln2762Ter)
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228
NM_004415.4(DSP):c.8330C>A (p.Pro2777His) rs376273136
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
NM_004415.4(DSP):c.8389A>G (p.Ile2797Val)
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr) rs769734918
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
NM_004415.4(DSP):c.8404C>T (p.Leu2802Phe)
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr)
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8468C>T (p.Pro2823Leu)
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8496_8507ATCTCGCTCCGG[3] (p.2827_2830SGSR[6])
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333
NM_004415.4(DSP):c.8516C>T (p.Ser2839Phe)
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys) rs144850908
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly) rs397516972
NM_004415.4(DSP):c.8583del (p.Tyr2862fs) rs765683790
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
NM_004415.4(DSP):c.859A>C (p.Asn287His) rs1554106503
NM_004415.4(DSP):c.8602T>A (p.Ser2868Thr) rs1554109346
NM_004415.4(DSP):c.868_870GAG[5] (p.Glu293dup) rs1561685368
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.4(DSP):c.889G>C (p.Asp297His)
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777
NM_004415.4(DSP):c.955C>G (p.Leu319Val) rs777852039
NM_004415.4(DSP):c.961G>C (p.Val321Leu) rs143994626
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.4(DSP):c.976C>T (p.Leu326Phe) rs117961973
NM_004415.4(DSP):c.97G>A (p.Gly33Ser) rs1581777550
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575

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