ClinVar Miner

List of variants in gene SCP2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 449
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HGVS dbSNP gnomAD frequency
NM_002979.5(SCP2):c.1469-93T>C rs1288362 0.33634
NM_002979.5(SCP2):c.974-18C>T rs7516939 0.32462
NM_002979.5(SCP2):c.974-61A>G rs7528565 0.31768
NM_002979.5(SCP2):c.1548+159C>G rs4599997 0.18884
NM_002979.5(SCP2):c.1548+228G>C rs4348672 0.18849
NM_002979.5(SCP2):c.1469-107C>T rs11206079 0.18844
NM_002979.5(SCP2):c.1081+122A>T rs7528867 0.17403
NM_002979.5(SCP2):c.987G>T (p.Thr329=) rs7538935 0.16959
NM_002979.5(SCP2):c.1235+30G>A rs7529265 0.14185
NM_002979.5(SCP2):c.1338+79G>T rs17107643 0.13580
NM_002979.5(SCP2):c.1236-101T>C rs17107639 0.13567
NM_002979.5(SCP2):c.1236-16A>G rs17107640 0.13565
NM_002979.5(SCP2):c.1339-178G>A rs11808284 0.12071
NM_002979.5(SCP2):c.826-297A>G rs56911955 0.10318
NM_002979.5(SCP2):c.1338+326T>G rs72903142 0.10140
NM_002979.5(SCP2):c.1339-282G>A rs72903191 0.10028
NM_002979.5(SCP2):c.609A>G (p.Glu203=) rs41294530 0.06615
NM_002979.5(SCP2):c.*7C>A rs10888761 0.05835
NM_002979.5(SCP2):c.1549-287G>A rs12095520 0.05829
NM_002979.5(SCP2):c.1236-245C>T rs10437065 0.05411
NM_002979.5(SCP2):c.1549-264G>C rs17107756 0.05281
NM_002979.5(SCP2):c.1338+77G>A rs77330574 0.03943
NM_002979.5(SCP2):c.675-95A>G rs72899334 0.03371
NM_002979.5(SCP2):c.-57C>T rs140752743 0.03208
NM_002979.5(SCP2):c.826-100A>G rs17107491 0.02861
NM_002979.5(SCP2):c.674+181A>G rs12568454 0.02696
NM_002979.5(SCP2):c.523+220A>G rs115271395 0.02592
NC_000001.11:g.52926925G>T rs28384398 0.02377
NM_002979.5(SCP2):c.1468+154C>T rs115439873 0.01966
NM_002979.5(SCP2):c.332-311G>A rs72897396 0.01931
NM_002979.5(SCP2):c.70-200A>G rs112333280 0.01812
NM_002979.5(SCP2):c.974-43T>C rs74875254 0.01742
NM_002979.5(SCP2):c.1081+5373A>C rs17107531 0.01670
NM_002979.5(SCP2):c.70-277A>G rs759019329 0.01405
NM_002979.5(SCP2):c.70-278_70-277insCT rs772407457 0.01402
NM_002979.5(SCP2):c.1236-172C>T rs138484563 0.00876
NM_002979.5(SCP2):c.332-184G>T rs78958884 0.00822
NM_002979.5(SCP2):c.*56A>G rs74363442 0.00781
NM_002979.5(SCP2):c.1469-142A>G rs77330664 0.00756
NM_002979.5(SCP2):c.1081+5248G>A rs117140349 0.00710
NM_002979.5(SCP2):c.1468+229T>G rs79434090 0.00700
NM_002979.5(SCP2):c.1081+214A>G rs150407225 0.00684
NM_002979.5(SCP2):c.1235+154C>T rs111837528 0.00681
NM_002979.5(SCP2):c.1224G>A (p.Pro408=) rs80253221 0.00680
NM_002979.5(SCP2):c.1236-210C>T rs13376704 0.00680
NM_002979.5(SCP2):c.127+63A>G rs78381436 0.00661
NM_002979.5(SCP2):c.973+312C>T rs140753873 0.00570
NM_002979.5(SCP2):c.1548+186C>T rs11206080 0.00451
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_002979.5(SCP2):c.1338+89T>C rs142918339 0.00303
NM_002979.5(SCP2):c.687T>C (p.Asp229=) rs80033039 0.00240
NM_002979.5(SCP2):c.1081+5247C>T rs182127561 0.00226
NM_002979.5(SCP2):c.1468+17C>A rs79342751 0.00163
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_002979.5(SCP2):c.70-46T>A rs752790329 0.00089
NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly) rs201094447 0.00048
NM_002979.5(SCP2):c.397-34C>G rs139280584 0.00040
NM_002979.5(SCP2):c.200-45C>G rs12041343 0.00036
NM_002979.5(SCP2):c.825+15C>T rs201469062 0.00016
NM_002979.5(SCP2):c.348C>T (p.Val116=) rs202234745 0.00015
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) rs74638331 0.00014
NM_002979.5(SCP2):c.1230C>T (p.Ala410=) rs565333584 0.00014
NM_002979.5(SCP2):c.15G>T (p.Pro5=) rs147697594 0.00014
NM_002979.5(SCP2):c.1081+8T>C rs374302380 0.00013
NM_002979.5(SCP2):c.1206C>G (p.Leu402=) rs374084722 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_002979.5(SCP2):c.1280C>G (p.Ala427Gly) rs144131493 0.00010
NM_002979.5(SCP2):c.1338+8T>G rs375633442 0.00010
NM_002979.5(SCP2):c.901G>T (p.Val301Leu) rs374102289 0.00010
NM_002979.5(SCP2):c.1545G>A (p.Gln515=) rs370629918 0.00009
NM_002979.5(SCP2):c.1549-13T>C rs371285649 0.00009
NM_002979.5(SCP2):c.825+1G>T rs144132787 0.00009
NM_002979.5(SCP2):c.884C>A (p.Thr295Lys) rs370185824 0.00009
NM_002979.5(SCP2):c.1344G>A (p.Gly448=) rs200036240 0.00008
NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys) rs138573524 0.00008
NM_002979.5(SCP2):c.278A>G (p.Asn93Ser) rs200302137 0.00008
NM_002979.5(SCP2):c.128-10G>A rs758618038 0.00007
NM_002979.5(SCP2):c.1187G>A (p.Gly396Glu) rs540496908 0.00006
NM_002979.5(SCP2):c.1339-16T>A rs751602154 0.00006
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) rs143534838 0.00006
NM_002979.5(SCP2):c.731A>G (p.Lys244Arg) rs201663646 0.00006
NM_002979.5(SCP2):c.855A>G (p.Ala285=) rs185811440 0.00006
NM_002979.5(SCP2):c.1059G>A (p.Lys353=) rs1333522318 0.00005
NM_002979.5(SCP2):c.1075G>A (p.Ala359Thr) rs777327087 0.00004
NM_002979.5(SCP2):c.128-11C>T rs748464431 0.00004
NM_002979.5(SCP2):c.136G>A (p.Ala46Thr) rs144647557 0.00004
NM_002979.5(SCP2):c.137C>T (p.Ala46Val) rs377136053 0.00004
NM_002979.5(SCP2):c.432T>C (p.Val144=) rs372729186 0.00004
NM_002979.5(SCP2):c.69+18C>G rs773753117 0.00004
NM_002979.5(SCP2):c.979G>A (p.Gly327Ser) rs775353158 0.00004
NM_002979.5(SCP2):c.1264G>A (p.Val422Ile) rs370480896 0.00003
NM_002979.5(SCP2):c.1593C>T (p.Leu531=) rs777240423 0.00003
NM_002979.5(SCP2):c.973+15T>G rs544069554 0.00003
NM_002979.5(SCP2):c.1116G>A (p.Leu372=) rs191994831 0.00002
NM_002979.5(SCP2):c.1328A>G (p.Lys443Arg) rs756292393 0.00002
NM_002979.5(SCP2):c.1338G>A (p.Glu446=) rs1306257154 0.00002
NM_002979.5(SCP2):c.135G>A (p.Lys45=) rs777222933 0.00002
NM_002979.5(SCP2):c.1503C>T (p.Asp501=) rs534033358 0.00002
NM_002979.5(SCP2):c.1506A>C (p.Ser502=) rs776703778 0.00002
NM_002979.5(SCP2):c.1510T>C (p.Phe504Leu) rs765471614 0.00002
NM_002979.5(SCP2):c.200-6A>G rs776290575 0.00002
NM_002979.5(SCP2):c.21G>A (p.Glu7=) rs780256464 0.00002
NM_002979.5(SCP2):c.446A>G (p.Asn149Ser) rs534506611 0.00002
NM_002979.5(SCP2):c.531A>T (p.Lys177Asn) rs143441016 0.00002
NM_002979.5(SCP2):c.587C>T (p.Pro196Leu) rs1557576782 0.00002
NM_002979.5(SCP2):c.69+10G>A rs779585406 0.00002
NM_002979.5(SCP2):c.769C>G (p.Gln257Glu) rs777134729 0.00002
NM_002979.5(SCP2):c.838A>G (p.Met280Val) rs751880143 0.00002
NM_002979.5(SCP2):c.986C>T (p.Thr329Met) rs763049237 0.00002
NM_002979.5(SCP2):c.1006A>G (p.Asn336Asp) rs774484298 0.00001
NM_002979.5(SCP2):c.1053T>A (p.Ile351=) rs767024762 0.00001
NM_002979.5(SCP2):c.1076C>T (p.Ala359Val) rs201780891 0.00001
NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter) rs369561869 0.00001
NM_002979.5(SCP2):c.11C>G (p.Ser4Cys) rs1261053889 0.00001
NM_002979.5(SCP2):c.1211A>G (p.Lys404Arg) rs764929170 0.00001
NM_002979.5(SCP2):c.1235+10A>G rs770248422 0.00001
NM_002979.5(SCP2):c.1235+6T>C rs781512454 0.00001
NM_002979.5(SCP2):c.128G>A (p.Gly43Asp) rs1488662905 0.00001
NM_002979.5(SCP2):c.1338+11T>C rs575481002 0.00001
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) rs376582235 0.00001
NM_002979.5(SCP2):c.134A>G (p.Lys45Arg) rs771234357 0.00001
NM_002979.5(SCP2):c.1387G>A (p.Val463Met) rs745398205 0.00001
NM_002979.5(SCP2):c.157C>T (p.Pro53Ser) rs773719700 0.00001
NM_002979.5(SCP2):c.176A>G (p.Gln59Arg) rs1315416896 0.00001
NM_002979.5(SCP2):c.199+4T>C rs1385562917 0.00001
NM_002979.5(SCP2):c.313C>T (p.Arg105Cys) rs760010623 0.00001
NM_002979.5(SCP2):c.325C>T (p.Gln109Ter) rs746730267 0.00001
NM_002979.5(SCP2):c.332-14C>T rs369392420 0.00001
NM_002979.5(SCP2):c.35G>T (p.Arg12Leu) rs755353816 0.00001
NM_002979.5(SCP2):c.443T>C (p.Ile148Thr) rs748097264 0.00001
NM_002979.5(SCP2):c.481C>T (p.Gln161Ter) rs376277989 0.00001
NM_002979.5(SCP2):c.483G>C (p.Gln161His) rs1656454468 0.00001
NM_002979.5(SCP2):c.509A>C (p.His170Pro) rs1261065843 0.00001
NM_002979.5(SCP2):c.511A>G (p.Met171Val) rs766999080 0.00001
NM_002979.5(SCP2):c.523+12T>C rs749950258 0.00001
NM_002979.5(SCP2):c.523+3A>G rs1178560410 0.00001
NM_002979.5(SCP2):c.532A>G (p.Ile178Val) rs753547956 0.00001
NM_002979.5(SCP2):c.540C>T (p.His180=) rs1315445992 0.00001
NM_002979.5(SCP2):c.55G>C (p.Val19Leu) rs140387282 0.00001
NM_002979.5(SCP2):c.572A>G (p.His191Arg) rs372168791 0.00001
NM_002979.5(SCP2):c.57T>A (p.Val19=) rs369597903 0.00001
NM_002979.5(SCP2):c.648T>C (p.Phe216=) rs774694600 0.00001
NM_002979.5(SCP2):c.686A>G (p.Asp229Gly) rs762454467 0.00001
NM_002979.5(SCP2):c.69+15G>T rs772389056 0.00001
NM_002979.5(SCP2):c.838dup (p.Met280fs) rs1258568007 0.00001
NM_002979.5(SCP2):c.842G>A (p.Ser281Asn) rs757589915 0.00001
NM_002979.5(SCP2):c.906A>G (p.Ile302Met) rs967380317 0.00001
NM_002979.5(SCP2):c.928A>G (p.Thr310Ala) rs759459799 0.00001
NM_002979.5(SCP2):c.972A>T (p.Glu324Asp) rs1218907581 0.00001
NM_002979.5(SCP2):c.974-3T>C rs769732346 0.00001
NM_002979.5(SCP2):c.974-4A>G rs188987080 0.00001
NC_000001.10:g.(?_53393069)_(53420496_?)dup
NC_000001.10:g.(?_53407448)_(53407545_?)del
NC_000001.10:g.(?_53407448)_(53446235_?)del
NC_000001.10:g.(?_53413661)_(53516376_?)dup
NC_000001.10:g.(?_53420392)_(53420496_?)del
NC_000001.10:g.(?_53427155)_(53427321_?)dup
NM_002979.5(SCP2):c.1001G>C (p.Gly334Ala)
NM_002979.5(SCP2):c.1003G>T (p.Asp335Tyr) rs2150186568
NM_002979.5(SCP2):c.102C>T (p.Asp34=) rs2150111235
NM_002979.5(SCP2):c.103_125dup (p.Gly43fs) rs2150111242
NM_002979.5(SCP2):c.1047A>C (p.Gly349=) rs756499564
NM_002979.5(SCP2):c.1049T>C (p.Leu350Pro) rs2150186662
NM_002979.5(SCP2):c.104A>G (p.Tyr35Cys) rs990012354
NM_002979.5(SCP2):c.1061G>C (p.Gly354Ala)
NM_002979.5(SCP2):c.1066C>T (p.Pro356Ser)
NM_002979.5(SCP2):c.1069C>T (p.Leu357=)
NM_002979.5(SCP2):c.1079C>T (p.Thr360Ile) rs2150186730
NM_002979.5(SCP2):c.1081+15A>T
NM_002979.5(SCP2):c.1081+4A>G rs746709357
NM_002979.5(SCP2):c.1081+4_1081+5del rs1659161819
NM_002979.5(SCP2):c.111C>A (p.Asp37Glu)
NM_002979.5(SCP2):c.1125A>C (p.Glu375Asp) rs771295169
NM_002979.5(SCP2):c.1135A>C (p.Arg379=)
NM_002979.5(SCP2):c.1148G>C (p.Gly383Ala) rs1661228838
NM_002979.5(SCP2):c.1155G>T (p.Lys385Asn) rs1340562226
NM_002979.5(SCP2):c.1170dup (p.Asn391Ter)
NM_002979.5(SCP2):c.1171A>G (p.Asn391Asp)
NM_002979.5(SCP2):c.1171A>T (p.Asn391Tyr)
NM_002979.5(SCP2):c.1176A>G (p.Leu392=) rs1661231170
NM_002979.5(SCP2):c.1179C>T (p.Gly393=) rs770020097
NM_002979.5(SCP2):c.1184G>A (p.Gly395Glu)
NM_002979.5(SCP2):c.1194G>A (p.Val398=) rs1313232913
NM_002979.5(SCP2):c.1210A>C (p.Lys404Gln) rs2150228162
NM_002979.5(SCP2):c.1215G>A (p.Met405Ile)
NM_002979.5(SCP2):c.1216G>A (p.Gly406Ser)
NM_002979.5(SCP2):c.1218T>G (p.Gly406=) rs758417010
NM_002979.5(SCP2):c.1235+12T>C
NM_002979.5(SCP2):c.1235+14A>G
NM_002979.5(SCP2):c.1235+7G>A
NM_002979.5(SCP2):c.1235+8A>G
NM_002979.5(SCP2):c.1236-1G>T
NM_002979.5(SCP2):c.1236-20A>T
NM_002979.5(SCP2):c.1236-215C>G rs79969290
NM_002979.5(SCP2):c.1236-4C>T
NM_002979.5(SCP2):c.1236-7del rs2150245967
NM_002979.5(SCP2):c.1243A>G (p.Arg415Gly)
NM_002979.5(SCP2):c.124G>A (p.Ala42Thr) rs2150111293
NM_002979.5(SCP2):c.1250A>C (p.His417Pro) rs2150246004
NM_002979.5(SCP2):c.1254A>G (p.Gln418=)
NM_002979.5(SCP2):c.1258G>A (p.Glu420Lys) rs2150246027
NM_002979.5(SCP2):c.127+14T>C rs1654283411
NM_002979.5(SCP2):c.127+20T>A
NM_002979.5(SCP2):c.127+2T>C
NM_002979.5(SCP2):c.127+8A>G
NM_002979.5(SCP2):c.1273A>G (p.Ser425Gly)
NM_002979.5(SCP2):c.1277C>G (p.Ser426Cys) rs1662256967
NM_002979.5(SCP2):c.1278T>C (p.Ser426=)
NM_002979.5(SCP2):c.128-13T>G
NM_002979.5(SCP2):c.128-15C>G
NM_002979.5(SCP2):c.128-5T>C
NM_002979.5(SCP2):c.128-9T>C
NM_002979.5(SCP2):c.1286A>G (p.Asp429Gly) rs2150246070
NM_002979.5(SCP2):c.1287T>C (p.Asp429=)
NM_002979.5(SCP2):c.1296G>A (p.Lys432=)
NM_002979.5(SCP2):c.1319T>C (p.Ile440Thr)
NM_002979.5(SCP2):c.1332T>C (p.Leu444=)
NM_002979.5(SCP2):c.1338+10A>G rs940058686
NM_002979.5(SCP2):c.1339-20del
NM_002979.5(SCP2):c.1339-266C>A rs190205544
NM_002979.5(SCP2):c.1339-5T>C rs2150263319
NM_002979.5(SCP2):c.1339-9T>A rs761834695
NM_002979.5(SCP2):c.1342G>A (p.Gly448Arg)
NM_002979.5(SCP2):c.1349A>G (p.Gln450Arg)
NM_002979.5(SCP2):c.1365C>T (p.Ile455=)
NM_002979.5(SCP2):c.1366G>A (p.Gly456Ser)
NM_002979.5(SCP2):c.1370G>A (p.Gly457Asp) rs2150263421
NM_002979.5(SCP2):c.1374T>C (p.Ile458=) rs2150263431
NM_002979.5(SCP2):c.1375T>A (p.Phe459Ile)
NM_002979.5(SCP2):c.1380C>T (p.Ala460=) rs2150263462
NM_002979.5(SCP2):c.13C>A (p.Pro5Thr)
NM_002979.5(SCP2):c.13C>G (p.Pro5Ala) rs1044388788
NM_002979.5(SCP2):c.1404G>T (p.Gly468=)
NM_002979.5(SCP2):c.1415C>T (p.Ala472Val) rs2150263543
NM_002979.5(SCP2):c.1428G>A (p.Val476=)
NM_002979.5(SCP2):c.1429G>A (p.Asp477Asn) rs2150263577
NM_002979.5(SCP2):c.1434G>A (p.Val478=)
NM_002979.5(SCP2):c.1468+13A>G rs2150263710
NM_002979.5(SCP2):c.1468+13del
NM_002979.5(SCP2):c.1468+18T>C
NM_002979.5(SCP2):c.1468+20C>T
NM_002979.5(SCP2):c.1469-12dup
NM_002979.5(SCP2):c.1469-17C>G
NM_002979.5(SCP2):c.1469-18C>T
NM_002979.5(SCP2):c.1495A>G (p.Met499Val)
NM_002979.5(SCP2):c.1499C>T (p.Ala500Val)
NM_002979.5(SCP2):c.14C>T (p.Pro5Leu)
NM_002979.5(SCP2):c.151C>T (p.Gln51Ter)
NM_002979.5(SCP2):c.1547C>T (p.Ser516Leu)
NM_002979.5(SCP2):c.1548+10A>C
NM_002979.5(SCP2):c.1548+6T>C
NM_002979.5(SCP2):c.1549-4A>C rs754585943
NM_002979.5(SCP2):c.1549-8C>A
NM_002979.5(SCP2):c.1549-9T>C
NM_002979.5(SCP2):c.1550C>A (p.Ala517Asp)
NM_002979.5(SCP2):c.1551C>T (p.Ala517=) rs1664143405
NM_002979.5(SCP2):c.1587G>C (p.Met529Ile) rs2150282509
NM_002979.5(SCP2):c.1592_1593dup (p.Ala532fs) rs2150282517
NM_002979.5(SCP2):c.1593C>A (p.Leu531=) rs777240423
NM_002979.5(SCP2):c.1606del (p.Gln536fs)
NM_002979.5(SCP2):c.1611T>C (p.Asn537=)
NM_002979.5(SCP2):c.1619T>C (p.Leu540Pro)
NM_002979.5(SCP2):c.1619T>G (p.Leu540Arg)
NM_002979.5(SCP2):c.1634C>A (p.Ala545Asp)
NM_002979.5(SCP2):c.1635T>C (p.Ala545=)
NM_002979.5(SCP2):c.165A>G (p.Ser55=)
NM_002979.5(SCP2):c.167C>T (p.Ala56Val) rs2150121863
NM_002979.5(SCP2):c.191_192del (p.Tyr64fs) rs2150121906
NM_002979.5(SCP2):c.199+10A>G
NM_002979.5(SCP2):c.199+11A>G
NM_002979.5(SCP2):c.199+14TG[3]
NM_002979.5(SCP2):c.199+17G>A
NM_002979.5(SCP2):c.199+17_199+18del
NM_002979.5(SCP2):c.199+1G>A
NM_002979.5(SCP2):c.200-15T>G
NM_002979.5(SCP2):c.200-4T>C
NM_002979.5(SCP2):c.200-5T>C
NM_002979.5(SCP2):c.203A>G (p.Asp68Gly) rs933795923
NM_002979.5(SCP2):c.207T>C (p.Ser69=)
NM_002979.5(SCP2):c.215G>A (p.Gly72Glu) rs1655217201
NM_002979.5(SCP2):c.220A>T (p.Arg74Trp) rs2150125751
NM_002979.5(SCP2):c.229_232del (p.Tyr77fs)
NM_002979.5(SCP2):c.238T>C (p.Leu80=)
NM_002979.5(SCP2):c.250G>A (p.Gly84Arg)
NM_002979.5(SCP2):c.291T>G (p.Gly97=)
NM_002979.5(SCP2):c.296C>T (p.Thr99Ile)
NM_002979.5(SCP2):c.2T>C (p.Met1Thr)
NM_002979.5(SCP2):c.303G>T (p.Leu101Phe) rs1010369315
NM_002979.5(SCP2):c.310G>A (p.Ala104Thr) rs1311075687
NM_002979.5(SCP2):c.313dup (p.Arg105fs)
NM_002979.5(SCP2):c.321G>A (p.Leu107=)
NM_002979.5(SCP2):c.328G>T (p.Gly110Cys)
NM_002979.5(SCP2):c.331+13del
NM_002979.5(SCP2):c.331+163G>A rs35364355
NM_002979.5(SCP2):c.331+19G>C
NM_002979.5(SCP2):c.331+285A>C rs114812863
NM_002979.5(SCP2):c.332-12T>C
NM_002979.5(SCP2):c.332-13G>A rs373584259
NM_002979.5(SCP2):c.332-23A>G
NM_002979.5(SCP2):c.332-7C>T
NM_002979.5(SCP2):c.334G>A (p.Val112Met)
NM_002979.5(SCP2):c.340G>C (p.Glu114Gln) rs2150131694
NM_002979.5(SCP2):c.354T>G (p.Ala118=) rs1655642657
NM_002979.5(SCP2):c.365A>G (p.Glu122Gly)
NM_002979.5(SCP2):c.370A>G (p.Met124Val)
NM_002979.5(SCP2):c.374G>A (p.Ser125Asn)
NM_002979.5(SCP2):c.378G>A (p.Lys126=)
NM_002979.5(SCP2):c.382A>G (p.Ser128Gly)
NM_002979.5(SCP2):c.383_391del (p.Ser128_Gly130del) rs1557556850
NM_002979.5(SCP2):c.38G>A (p.Arg13Gln) rs1283507004
NM_002979.5(SCP2):c.396+11T>C
NM_002979.5(SCP2):c.396+16G>C
NM_002979.5(SCP2):c.396+18A>G
NM_002979.5(SCP2):c.396+20A>C
NM_002979.5(SCP2):c.396+20A>G
NM_002979.5(SCP2):c.396+238dup rs200733442
NM_002979.5(SCP2):c.397-10C>G
NM_002979.5(SCP2):c.397-10C>T
NM_002979.5(SCP2):c.397-5C>T
NM_002979.5(SCP2):c.397-7C>T rs765870016
NM_002979.5(SCP2):c.397-8C>A
NM_002979.5(SCP2):c.397-9C>T
NM_002979.5(SCP2):c.409A>G (p.Thr137Ala) rs2150143376
NM_002979.5(SCP2):c.40G>C (p.Val14Leu)
NM_002979.5(SCP2):c.410C>T (p.Thr137Ile)
NM_002979.5(SCP2):c.417C>T (p.Pro139=)
NM_002979.5(SCP2):c.417del (p.Thr140fs)
NM_002979.5(SCP2):c.419C>G (p.Thr140Ser)
NM_002979.5(SCP2):c.41T>C (p.Val14Ala)
NM_002979.5(SCP2):c.423T>C (p.Asp141=) rs755756597
NM_002979.5(SCP2):c.433G>C (p.Asp145His)
NM_002979.5(SCP2):c.438C>T (p.Leu146=)
NM_002979.5(SCP2):c.450G>A (p.Lys150=) rs773337705
NM_002979.5(SCP2):c.452A>G (p.Tyr151Cys)
NM_002979.5(SCP2):c.454G>A (p.Gly152Arg)
NM_002979.5(SCP2):c.461C>T (p.Ser154Phe)
NM_002979.5(SCP2):c.468C>A (p.His156Gln) rs760012864
NM_002979.5(SCP2):c.469C>G (p.Pro157Ala) rs2150143503
NM_002979.5(SCP2):c.480T>C (p.Pro160=) rs2150143521
NM_002979.5(SCP2):c.510T>C (p.His170=)
NM_002979.5(SCP2):c.523+288dup rs143534429
NM_002979.5(SCP2):c.524-16T>A
NM_002979.5(SCP2):c.524-2A>G
NM_002979.5(SCP2):c.535G>T (p.Glu179Ter)
NM_002979.5(SCP2):c.539A>G (p.His180Arg) rs1657801839
NM_002979.5(SCP2):c.549A>G (p.Lys183=)
NM_002979.5(SCP2):c.550dup (p.Ile184fs) rs1572119109
NM_002979.5(SCP2):c.555A>G (p.Gly185=) rs1361376336
NM_002979.5(SCP2):c.565C>A (p.His189Asn)
NM_002979.5(SCP2):c.570A>G (p.Lys190=) rs1657805115
NM_002979.5(SCP2):c.585C>T (p.Asn195=) rs2150163464
NM_002979.5(SCP2):c.587+10T>C
NM_002979.5(SCP2):c.587+17C>T
NM_002979.5(SCP2):c.588-8G>A rs1657999295
NM_002979.5(SCP2):c.588-9del
NM_002979.5(SCP2):c.588dup
NM_002979.5(SCP2):c.590A>G (p.Tyr197Cys)
NM_002979.5(SCP2):c.5C>T (p.Ser2Phe) rs1244050094
NM_002979.5(SCP2):c.603A>G (p.Gln201=) rs2150167088
NM_002979.5(SCP2):c.621T>A (p.Asp207Glu)
NM_002979.5(SCP2):c.627G>A (p.Val209=)
NM_002979.5(SCP2):c.628A>G (p.Met210Val)
NM_002979.5(SCP2):c.62T>G (p.Met21Arg)
NM_002979.5(SCP2):c.633A>G (p.Ala211=)
NM_002979.5(SCP2):c.659C>T (p.Thr220Ile) rs868502319
NM_002979.5(SCP2):c.661A>G (p.Ile221Val)
NM_002979.5(SCP2):c.672T>C (p.Cys224=)
NM_002979.5(SCP2):c.673T>A (p.Cys225Ser)
NM_002979.5(SCP2):c.674+15T>C
NM_002979.5(SCP2):c.674+15_674+20del
NM_002979.5(SCP2):c.674+286G>A rs74547030
NM_002979.5(SCP2):c.675-13T>C
NM_002979.5(SCP2):c.675-17T>C rs2150169895
NM_002979.5(SCP2):c.675-1G>C
NM_002979.5(SCP2):c.675-237del rs57875662
NM_002979.5(SCP2):c.675-237dup rs57875662
NM_002979.5(SCP2):c.675-5C>T
NM_002979.5(SCP2):c.675-8C>T
NM_002979.5(SCP2):c.678C>G (p.Pro226=)
NM_002979.5(SCP2):c.678C>T (p.Pro226=)
NM_002979.5(SCP2):c.67A>C (p.Lys23Gln)
NM_002979.5(SCP2):c.683C>G (p.Ser228Ter)
NM_002979.5(SCP2):c.69+12A>T
NM_002979.5(SCP2):c.69+13G>A
NM_002979.5(SCP2):c.69+14C>T rs2150086479
NM_002979.5(SCP2):c.69+16G>A
NM_002979.5(SCP2):c.69+18C>T rs773753117
NM_002979.5(SCP2):c.69+7C>A rs1381255788
NM_002979.5(SCP2):c.696A>C (p.Ala232=) rs750424256
NM_002979.5(SCP2):c.6C>G (p.Ser2=)
NM_002979.5(SCP2):c.70-10A>G rs1031594688
NM_002979.5(SCP2):c.70-47del rs143386725
NM_002979.5(SCP2):c.70-47dup rs143386725
NM_002979.5(SCP2):c.70-48_70-47dup rs143386725
NM_002979.5(SCP2):c.70-50_70-47dup rs143386725
NM_002979.5(SCP2):c.70-66G>A rs112730084
NM_002979.5(SCP2):c.703A>G (p.Ile235Val) rs1553148523
NM_002979.5(SCP2):c.706T>C (p.Leu236=)
NM_002979.5(SCP2):c.712A>T (p.Ser238Cys) rs1170093685
NM_002979.5(SCP2):c.717A>G (p.Glu239=)
NM_002979.5(SCP2):c.729G>A (p.Gln243=) rs1279550018
NM_002979.5(SCP2):c.739dup (p.Leu247fs)
NM_002979.5(SCP2):c.73G>T (p.Val25Leu)
NM_002979.5(SCP2):c.752C>G (p.Ala251Gly) rs771343266
NM_002979.5(SCP2):c.768A>G (p.Ala256=)
NM_002979.5(SCP2):c.774A>G (p.Glu258=)
NM_002979.5(SCP2):c.798G>A (p.Ser266=)
NM_002979.5(SCP2):c.825+14T>A
NM_002979.5(SCP2):c.825+15C>A rs201469062
NM_002979.5(SCP2):c.825+16T>C
NM_002979.5(SCP2):c.825+17A>G
NM_002979.5(SCP2):c.825+18T>A
NM_002979.5(SCP2):c.825+1G>A
NM_002979.5(SCP2):c.825+3A>G rs2150170273
NM_002979.5(SCP2):c.825+4T>G rs1360582997
NM_002979.5(SCP2):c.825G>C (p.Met275Ile) rs1557580517
NM_002979.5(SCP2):c.826-12T>C
NM_002979.5(SCP2):c.826-7G>C
NM_002979.5(SCP2):c.831C>T (p.Gly277=) rs2150173502
NM_002979.5(SCP2):c.837T>C (p.Asp279=)
NM_002979.5(SCP2):c.839T>C (p.Met280Thr) rs2150173524
NM_002979.5(SCP2):c.866A>G (p.Tyr289Cys)
NM_002979.5(SCP2):c.866A>T (p.Tyr289Phe) rs1282243951
NM_002979.5(SCP2):c.872A>G (p.Lys291Arg)
NM_002979.5(SCP2):c.879C>A (p.Gly293=)
NM_002979.5(SCP2):c.880_881delinsGG (p.Leu294Gly)
NM_002979.5(SCP2):c.885A>C (p.Thr295=)
NM_002979.5(SCP2):c.896T>C (p.Ile299Thr) rs2150173682
NM_002979.5(SCP2):c.8C>T (p.Ser3Phe) rs2150086298
NM_002979.5(SCP2):c.901G>A (p.Val301Ile) rs374102289
NM_002979.5(SCP2):c.915C>T (p.His305=)
NM_002979.5(SCP2):c.918T>C (p.Asp306=)
NM_002979.5(SCP2):c.921C>G (p.Cys307Trp)
NM_002979.5(SCP2):c.921C>T (p.Cys307=)
NM_002979.5(SCP2):c.933C>T (p.Asn311=)
NM_002979.5(SCP2):c.934G>A (p.Glu312Lys) rs1442103564
NM_002979.5(SCP2):c.944C>G (p.Thr315Ser)
NM_002979.5(SCP2):c.945T>G (p.Thr315=)
NM_002979.5(SCP2):c.948T>C (p.Tyr316=)
NM_002979.5(SCP2):c.957G>A (p.Leu319=) rs2150173853
NM_002979.5(SCP2):c.960A>G (p.Gly320=)
NM_002979.5(SCP2):c.973+151G>A rs116807594
NM_002979.5(SCP2):c.973+4A>G
NM_002979.5(SCP2):c.973+5C>T
NM_002979.5(SCP2):c.973+816C>T
NM_002979.5(SCP2):c.974-1G>C
NM_002979.5(SCP2):c.974-20T>C
NM_002979.5(SCP2):c.974-9C>T
NM_002979.5(SCP2):c.987G>A (p.Thr329=)

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