ClinVar Miner

List of variants in gene DSP studied for Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8

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Gene type:
ClinVar version:
Total variants: 584
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HGVS dbSNP
NC_000006.11:g.(?_7570650)_(7586131_?)del
NM_004415.4(DSP):c.*9T>A rs11558732
NM_004415.4(DSP):c.1005A>G (p.Gln335=) rs200961741
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393
NM_004415.4(DSP):c.1045-8T>C rs201633815
NM_004415.4(DSP):c.1049A>G (p.Tyr350Cys)
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys) rs780626687
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
NM_004415.4(DSP):c.106G>A (p.Gly36Ser) rs1395509692
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)
NM_004415.4(DSP):c.1140+6T>C rs534740669
NM_004415.4(DSP):c.1142T>C (p.Phe381Ser) rs1209991251
NM_004415.4(DSP):c.1154C>T (p.Ala385Val) rs146737031
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1191C>T (p.Asp397=) rs1046392713
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.4(DSP):c.1225A>T (p.Met409Leu) rs890837021
NM_004415.4(DSP):c.1248A>G (p.Glu416=) rs1554106751
NM_004415.4(DSP):c.1254C>G (p.Ile418Met)
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1274G>T (p.Arg425Leu)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1297C>T (p.Arg433Cys) rs767032884
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1308G>C (p.Gln436His)
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn) rs1037212969
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280
NM_004415.4(DSP):c.1350_1351insTTA (p.Arg451_Asn452insLeu)
NM_004415.4(DSP):c.1352G>A (p.Arg451His) rs786204294
NM_004415.4(DSP):c.1356C>T (p.Asn452=) rs1187261274
NM_004415.4(DSP):c.1378C>G (p.Pro460Ala)
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.1411_1412insT (p.Gln471fs)
NM_004415.4(DSP):c.1419+5G>C rs1004508873
NM_004415.4(DSP):c.1420-7C>T rs1060503980
NM_004415.4(DSP):c.1469G>A (p.Arg490His) rs747815091
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.4(DSP):c.1482C>T (p.Tyr494=) rs772925425
NM_004415.4(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
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)
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)
NM_004415.4(DSP):c.1574+3A>G rs1231896749
NM_004415.4(DSP):c.1574+7C>T rs375717504
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr) rs1561689358
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506
NM_004415.4(DSP):c.1677G>A (p.Lys559=) rs143356115
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+5del rs1554104240
NM_004415.4(DSP):c.171-3dup rs1554105600
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
NM_004415.4(DSP):c.1725T>C (p.Asp575=) rs756392585
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
NM_004415.4(DSP):c.1731G>A (p.Met577Ile) rs794728101
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230
NM_004415.4(DSP):c.1749T>G (p.Leu583=) rs1060503981
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter)
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter)
NM_004415.4(DSP):c.183G>A (p.Thr61=) rs150383703
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn) rs764951792
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1903+3del rs1064793548
NM_004415.4(DSP):c.1903+7T>C rs28763962
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440
NM_004415.4(DSP):c.194A>G (p.His65Arg)
NM_004415.4(DSP):c.194A>T (p.His65Leu) rs771190708
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del) rs1554107128
NM_004415.4(DSP):c.2023A>G (p.Ile675Val) rs142619902
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942
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)
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
NM_004415.4(DSP):c.2091= (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
NM_004415.4(DSP):c.2199C>G (p.Phe733Leu)
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963
NM_004415.4(DSP):c.227A>G (p.Gln76Arg)
NM_004415.4(DSP):c.2308G>A (p.Val770Ile) rs1225927424
NM_004415.4(DSP):c.2316A>T (p.Ala772=) rs754896726
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter)
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.4(DSP):c.2360A>G (p.Tyr787Cys) rs778350289
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397
NM_004415.4(DSP):c.237C>T (p.Ser79=) rs146521568
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369
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.2437-1G>C rs1057517903
NM_004415.4(DSP):c.2437-7C>T rs1424310426
NM_004415.4(DSP):c.2437-9dup rs1239613725
NM_004415.4(DSP):c.2437A>G (p.Lys813Glu)
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728
NM_004415.4(DSP):c.2472G>A (p.Leu824=) rs763798166
NM_004415.4(DSP):c.2482A>G (p.Met828Val) rs1338201926
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
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.2596C>T (p.Arg866Cys) rs142429411
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=)
NM_004415.4(DSP):c.2631-10T>A rs369840498
NM_004415.4(DSP):c.2631-5C>T rs773772683
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
NM_004415.4(DSP):c.2680A>T (p.Asn894Tyr) rs1060500614
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro)
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys) rs749051278
NM_004415.4(DSP):c.2722C>T (p.Arg908Cys) rs376932045
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.273+10C>T rs56148603
NM_004415.4(DSP):c.273+5G>A rs200473206
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.4(DSP):c.2793+1G>T rs1554107741
NM_004415.4(DSP):c.2796C>T (p.Asn932=) rs368981849
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674
NM_004415.4(DSP):c.2809A>G (p.Ile937Val) rs1287292518
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928
NM_004415.4(DSP):c.2894T>C (p.Leu965Pro)
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.2966C>T (p.Ser989Phe)
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918
NM_004415.4(DSP):c.2986-6T>A rs144748036
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.3018A>G (p.Leu1006=) rs375412541
NM_004415.4(DSP):c.3046T>G (p.Phe1016Val) rs1561696335
NM_004415.4(DSP):c.3067A>C (p.Ser1023Arg)
NM_004415.4(DSP):c.307C>T (p.Arg103Trp)
NM_004415.4(DSP):c.3084G>A (p.Lys1028=)
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637
NM_004415.4(DSP):c.3126_3127delinsT (p.Arg1042fs) rs1561696970
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890
NM_004415.4(DSP):c.3138T>C (p.Asp1046=) rs879254347
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.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
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.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
NM_004415.4(DSP):c.330_334del (p.Phe111fs)
NM_004415.4(DSP):c.3323A>G (p.Asn1108Ser) rs771948271
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala)
NM_004415.4(DSP):c.3379T>C (p.Ser1127Pro)
NM_004415.4(DSP):c.344A>G (p.Asn115Ser) rs28763958
NM_004415.4(DSP):c.3453G>A (p.Glu1151=) rs1554108084
NM_004415.4(DSP):c.3458T>G (p.Leu1153Arg) rs1554108085
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.3507C>T (p.Tyr1169=) rs148894066
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964
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.3562T>C (p.Tyr1188His) rs141508330
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
NM_004415.4(DSP):c.3574C>G (p.Leu1192Val) rs1554108118
NM_004415.4(DSP):c.35A>G (p.Asn12Ser)
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778
NM_004415.4(DSP):c.363C>T (p.Leu121=) rs748204541
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359
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.3650C>T (p.Thr1217Met) rs535202724
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg) rs1458557680
NM_004415.4(DSP):c.3692A>C (p.Asp1231Ala)
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
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.3805C>A (p.Arg1269=) rs767643821
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.3843C>T (p.Gly1281=) rs757848395
NM_004415.4(DSP):c.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665
NM_004415.4(DSP):c.3899A>G (p.Gln1300Arg) rs1060500619
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp) rs764189408
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.4(DSP):c.3981C>T (p.Ile1327=) rs397516934
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
NM_004415.4(DSP):c.402C>T (p.Pro134=) rs373685989
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn) rs144465638
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.4(DSP):c.4077C>T (p.Ile1359=) rs747249306
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.4(DSP):c.4173C>T (p.Tyr1391=) rs75537269
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4195A>G (p.Thr1399Ala) rs1561698547
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.422G>C (p.Arg141Thr)
NM_004415.4(DSP):c.424C>T (p.Leu142Phe) rs373769397
NM_004415.4(DSP):c.4275G>T (p.Arg1425Ser)
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>A (p.Arg1458=) rs28763965
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4373G>A (p.Arg1458Gln) rs370063434
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
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.4423del (p.Thr1475fs)
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
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.4500G>T (p.Leu1500=) rs372881903
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val) rs375919492
NM_004415.4(DSP):c.4515G>A (p.Ala1505=) rs193197554
NM_004415.4(DSP):c.4521A>T (p.Leu1507Phe) rs1060500611
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940
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.4573A>G (p.Ile1525Val) rs145796901
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
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.4684T>C (p.Ser1562Pro) rs1394590334
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val) rs201785897
NM_004415.4(DSP):c.4749C>T (p.Thr1583=) rs745348231
NM_004415.4(DSP):c.4750G>A (p.Ala1584Thr) rs191778417
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu) rs773622004
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
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.4821G>A (p.Glu1607=) rs1030367156
NM_004415.4(DSP):c.4835T>C (p.Ile1612Thr)
NM_004415.4(DSP):c.4882_4886delinsTTCT (p.Arg1628fs) rs1554108410
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.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.4(DSP):c.497C>T (p.Ser166Phe) rs1060500620
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr)
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln) rs768577891
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
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)
NM_004415.4(DSP):c.5101A>G (p.Ile1701Val) rs794728154
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys)
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.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
NM_004415.4(DSP):c.5210del (p.Gly1737fs)
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763
NM_004415.4(DSP):c.5223G>C (p.Ala1741=) rs201984474
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter)
NM_004415.4(DSP):c.5242A>G (p.Thr1748Ala) rs1315952619
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141
NM_004415.4(DSP):c.531C>G (p.Gly177=) rs138865799
NM_004415.4(DSP):c.5321_5322AG[3] (p.Glu1776fs) rs1394836623
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.5355G>A (p.Glu1785=) rs546610553
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146
NM_004415.4(DSP):c.5412G>T (p.Gln1804His) rs779809935
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5448G>C (p.Leu1816=) rs1270969886
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.4(DSP):c.557A>G (p.His186Arg)
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839
NM_004415.4(DSP):c.5631T>C (p.Ala1877=) rs1231651139
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr)
NM_004415.4(DSP):c.5649G>A (p.Ser1883=) rs760974941
NM_004415.4(DSP):c.5665_5666GA[4] (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5697C>T (p.Ile1899=) rs879254348
NM_004415.4(DSP):c.5698G>A (p.Glu1900Lys)
NM_004415.4(DSP):c.5706C>G (p.Leu1902=) rs879254349
NM_004415.4(DSP):c.5707C>A (p.Gln1903Lys) rs794728103
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys) rs1461028383
NM_004415.4(DSP):c.5767G>C (p.Glu1923Gln)
NM_004415.4(DSP):c.5771_5772CA[1] (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys) rs748825632
NM_004415.4(DSP):c.5796C>G (p.Arg1932=) rs148845182
NM_004415.4(DSP):c.5805T>C (p.Tyr1935=) rs748358814
NM_004415.4(DSP):c.5839T>C (p.Tyr1947His)
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)
NM_004415.4(DSP):c.5978A>G (p.Lys1993Arg) rs1561701766
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser) rs794728128
NM_004415.4(DSP):c.5991G>A (p.Gly1997=) rs538244495
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.6062C>G (p.Ala2021Gly) rs760673242
NM_004415.4(DSP):c.607G>A (p.Asp203Asn) rs374100807
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
NM_004415.4(DSP):c.61G>A (p.Glu21Lys) rs747956457
NM_004415.4(DSP):c.6207C>T (p.Val2069=) rs147398792
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009
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.6319G>C (p.Val2107Leu) rs144263721
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975
NM_004415.4(DSP):c.634G>A (p.Ala212Thr)
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859
NM_004415.4(DSP):c.6360C>T (p.Thr2120=) rs374252141
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061
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.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln) rs771692503
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6505C>G (p.Gln2169Glu) rs1561702645
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6526G>A (p.Val2176Ile) rs746533703
NM_004415.4(DSP):c.6526G>C (p.Val2176Leu)
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.6581_6582CA[1] (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile)
NM_004415.4(DSP):c.6597C>T (p.Leu2199=) rs567782337
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.6654C>T (p.Thr2218=) rs727503005
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys)
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024
NM_004415.4(DSP):c.6723T>A (p.Ile2241=) rs1219037519
NM_004415.4(DSP):c.6753G>A (p.Lys2251=) rs750294829
NM_004415.4(DSP):c.6762C>T (p.Leu2254=) rs138683913
NM_004415.4(DSP):c.6765G>T (p.Gln2255His) rs766183320
NM_004415.4(DSP):c.6776G>T (p.Cys2259Phe)
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432
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.687C>T (p.Gly229=)
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.4(DSP):c.6895G>A (p.Gly2299Ser) rs1561703092
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088
NM_004415.4(DSP):c.6953G>C (p.Arg2318Thr)
NM_004415.4(DSP):c.6956G>A (p.Gly2319Asp) rs762943687
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7039A>C (p.Ile2347Leu)
NM_004415.4(DSP):c.7068G>A (p.Lys2356=) rs762892811
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7077C>T (p.Ile2359=) rs966841386
NM_004415.4(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
NM_004415.4(DSP):c.7172C>T (p.Ala2391Val) rs879254351
NM_004415.4(DSP):c.7185C>T (p.Gly2395=) rs1296848321
NM_004415.4(DSP):c.7197G>A (p.Glu2399=) rs372594837
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.726+8T>C rs1554106248
NM_004415.4(DSP):c.727-10T>G rs375327581
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.4(DSP):c.729C>G (p.Arg243=) rs141028505
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn) rs1554108998
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
NM_004415.4(DSP):c.7413A>G (p.Pro2471=) rs772161814
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn) rs760552749
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr) rs772574987
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile) rs757394666
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7581G>A (p.Gln2527=) rs879254350
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys) rs142078450
NM_004415.4(DSP):c.7647C>T (p.Ser2549=) rs765385403
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
NM_004415.4(DSP):c.7689_7694dup (p.Asn2565_Gly2566insLysLys) rs1554109062
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.4(DSP):c.7752C>T (p.Ser2584=) rs1554109092
NM_004415.4(DSP):c.778-2A>G
NM_004415.4(DSP):c.778-4G>C rs1296932263
NM_004415.4(DSP):c.7787T>C (p.Ile2596Thr)
NM_004415.4(DSP):c.780A>G (p.Lys260=) rs1554106489
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val) rs1301635888
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870
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.7872_7873CA[1] (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.4(DSP):c.7885G>A (p.Glu2629Lys) rs756976948
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp) rs771553674
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048
NM_004415.4(DSP):c.7997G>A (p.Gly2666Asp)
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.8019C>T (p.Asp2673=) rs144275591
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr) rs764994940
NM_004415.4(DSP):c.8084T>G (p.Phe2695Cys)
NM_004415.4(DSP):c.8101G>A (p.Val2701Met) rs1561704928
NM_004415.4(DSP):c.8111_8113AGA[2] (p.Lys2706del) rs397516962
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)
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg) rs1554109176
NM_004415.4(DSP):c.8156del (p.Pro2719fs)
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys)
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.4(DSP):c.8178C>T (p.Phe2726=) rs901698792
NM_004415.4(DSP):c.8187C>T (p.Phe2729=) rs369619485
NM_004415.4(DSP):c.8188del (p.Gln2730fs) rs886038929
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.4(DSP):c.8199G>C (p.Thr2733=) rs145085696
NM_004415.4(DSP):c.81C>A (p.Arg27=) rs773559423
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)
NM_004415.4(DSP):c.8229G>A (p.Gly2743=) rs1060503979
NM_004415.4(DSP):c.8257A>C (p.Lys2753Gln) rs1554109205
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys) rs148254632
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr) rs376751288
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys) rs371020228
NM_004415.4(DSP):c.837G>A (p.Thr279=) rs368051840
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.4(DSP):c.8472_8483del (p.2827_2830SGSR[4]) rs397516967
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser) rs369682599
NM_004415.4(DSP):c.8487_8498del (p.2827_2830SGSR[4]) rs727504704
NM_004415.4(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8493G>C (p.Ser2831=) rs397516969
NM_004415.4(DSP):c.8496_8507ATCTCGCTCCGG[1] (p.2827_2830SGSR[4]) rs397516971
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys) rs144850908
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_004415.4(DSP):c.8556C>T (p.Ala2852=) rs1163538965
NM_004415.4(DSP):c.8583del (p.Tyr2862fs)
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.8605A>G (p.Ile2869Val) rs28763971
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.88G>A (p.Val30Met) rs121912998
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) 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.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.939+1G>A rs727504443
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)
NM_004415.4(DSP):c.987G>A (p.Leu329=) rs564435126
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575

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