ClinVar Miner

List of variants in gene SPTAN1

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Gene type:
ClinVar version:
Total variants: 718
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HGVS dbSNP
NC_000009.11:g.(?_131375660)_(131375764_?)del
NC_000009.12:g.128586034_128586036del
NM_001130438.2(SPTAN1):c.-139A>G rs886063495
NM_001130438.2(SPTAN1):c.3580-5_3580-2delCCTA rs754528571
NM_001130438.2(SPTAN1):c.5358-8_5358-7delTC rs769628464
NM_001130438.3(SPTAN1):c.*111G>T rs74995813
NM_001130438.3(SPTAN1):c.*148C>T rs113912557
NM_001130438.3(SPTAN1):c.*149G>A rs188688870
NM_001130438.3(SPTAN1):c.*155G>A rs11543348
NM_001130438.3(SPTAN1):c.*166A>G rs886063512
NM_001130438.3(SPTAN1):c.*20A>G rs886063511
NM_001130438.3(SPTAN1):c.*284A>G rs886063513
NM_001130438.3(SPTAN1):c.*46C>T rs367989148
NM_001130438.3(SPTAN1):c.-12C>A rs886063499
NM_001130438.3(SPTAN1):c.-13C>G rs981397470
NM_001130438.3(SPTAN1):c.-20T>C rs1057521616
NM_001130438.3(SPTAN1):c.-27A>G rs886063498
NM_001130438.3(SPTAN1):c.-34C>G rs796053308
NM_001130438.3(SPTAN1):c.-4+17G>A rs910870737
NM_001130438.3(SPTAN1):c.-4G>A rs796053319
NM_001130438.3(SPTAN1):c.-66_-49dup rs1055561225
NM_001130438.3(SPTAN1):c.-71C>T rs886063497
NM_001130438.3(SPTAN1):c.-73C>T rs886063496
NM_001130438.3(SPTAN1):c.-74C>T rs539544825
NM_001130438.3(SPTAN1):c.-77A>G rs570950377
NM_001130438.3(SPTAN1):c.1007G>A (p.Arg336Gln)
NM_001130438.3(SPTAN1):c.1011G>A (p.Glu337=) rs376280897
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His) rs796053314
NM_001130438.3(SPTAN1):c.1050G>A (p.Ala350=) rs752710398
NM_001130438.3(SPTAN1):c.1073A>G (p.Asn358Ser) rs201947293
NM_001130438.3(SPTAN1):c.1085+113A>G
NM_001130438.3(SPTAN1):c.1085+6A>G rs1060503488
NM_001130438.3(SPTAN1):c.1086-18_1086-17delinsAA rs1554742449
NM_001130438.3(SPTAN1):c.1086-4C>G rs367718622
NM_001130438.3(SPTAN1):c.108G>A (p.Arg36=) rs371017342
NM_001130438.3(SPTAN1):c.1092A>G (p.Gln364=) rs570171059
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
NM_001130438.3(SPTAN1):c.1112G>A (p.Arg371His) rs1554742488
NM_001130438.3(SPTAN1):c.111T>A (p.Arg37=) rs774051017
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser) rs2227863
NM_001130438.3(SPTAN1):c.117G>A (p.Lys39=) rs1057523805
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
NM_001130438.3(SPTAN1):c.1215G>A (p.Glu405=) rs750970364
NM_001130438.3(SPTAN1):c.1221+115T>A
NM_001130438.3(SPTAN1):c.1221+11C>G rs113357847
NM_001130438.3(SPTAN1):c.1221+11C>T rs113357847
NM_001130438.3(SPTAN1):c.1221+286T>A
NM_001130438.3(SPTAN1):c.1221+321T>C
NM_001130438.3(SPTAN1):c.1222-226C>G
NM_001130438.3(SPTAN1):c.1222-247G>A
NM_001130438.3(SPTAN1):c.1222-274T>C
NM_001130438.3(SPTAN1):c.1242A>G (p.Glu414=)
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn) rs773663318
NM_001130438.3(SPTAN1):c.126T>C (p.Asp42=) rs547012864
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg) rs11792065
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val) rs368876195
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631
NM_001130438.3(SPTAN1):c.1324-12T>C rs371641680
NM_001130438.3(SPTAN1):c.1324-13C>G rs199839122
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.3(SPTAN1):c.1337C>T (p.Ser446Phe) rs794727023
NM_001130438.3(SPTAN1):c.1338C>G (p.Ser446=)
NM_001130438.3(SPTAN1):c.1338C>T (p.Ser446=) rs185614333
NM_001130438.3(SPTAN1):c.1339G>A (p.Glu447Lys) rs767067922
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser) rs768940761
NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln) rs760552878
NM_001130438.3(SPTAN1):c.1350G>A (p.Ala450=) rs374478564
NM_001130438.3(SPTAN1):c.1357C>T (p.Leu453=)
NM_001130438.3(SPTAN1):c.1362G>C (p.Glu454Asp) rs144590741
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp)
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys) rs772281075
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His) rs201948749
NM_001130438.3(SPTAN1):c.1389C>T (p.Tyr463=) rs587784431
NM_001130438.3(SPTAN1):c.1461+14A>C rs376751145
NM_001130438.3(SPTAN1):c.1462-27T>A rs7040737
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1512G>A (p.Ala504=) rs141424626
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val) rs147444364
NM_001130438.3(SPTAN1):c.1536T>C (p.Phe512=) rs762887917
NM_001130438.3(SPTAN1):c.1542A>G (p.Lys514=) rs763879792
NM_001130438.3(SPTAN1):c.154G>A (p.Asp52Asn) rs1564194636
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr) rs755356541
NM_001130438.3(SPTAN1):c.1572+143A>G
NM_001130438.3(SPTAN1):c.1573-6_1573-3del rs758557229
NM_001130438.3(SPTAN1):c.1581T>A (p.Asp527Glu)
NM_001130438.3(SPTAN1):c.1584A>G (p.Glu528=) rs767443717
NM_001130438.3(SPTAN1):c.1593C>G (p.Thr531=) rs1057520489
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg) rs886063501
NM_001130438.3(SPTAN1):c.1603C>A (p.Gln535Lys) rs79650677
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val) rs796053315
NM_001130438.3(SPTAN1):c.1633G>T (p.Ala545Ser) rs1003067844
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser) rs371178746
NM_001130438.3(SPTAN1):c.1651-17G>A rs372860106
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser) rs778489951
NM_001130438.3(SPTAN1):c.1677C>G (p.His559Gln) rs587784432
NM_001130438.3(SPTAN1):c.1677C>T (p.His559=) rs587784432
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
NM_001130438.3(SPTAN1):c.1688T>C (p.Met563Thr) rs377387388
NM_001130438.3(SPTAN1):c.1689G>T (p.Met563Ile) rs373973880
NM_001130438.3(SPTAN1):c.1690C>T (p.Arg564Cys) rs759822213
NM_001130438.3(SPTAN1):c.1691G>A (p.Arg564His) rs201168391
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln) rs370304886
NM_001130438.3(SPTAN1):c.1697G>C (p.Arg566Pro) rs370304886
NM_001130438.3(SPTAN1):c.1710C>T (p.Ala570=) rs115428827
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.1755C>G (p.Leu585=) rs1564223914
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys) rs781048881
NM_001130438.3(SPTAN1):c.1778T>C (p.Met593Thr) rs1382899008
NM_001130438.3(SPTAN1):c.1799C>A (p.Ala600Asp) rs745720603
NM_001130438.3(SPTAN1):c.1806+15G>T rs372203791
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688
NM_001130438.3(SPTAN1):c.1807-11T>C rs139049596
NM_001130438.3(SPTAN1):c.1807-17C>T rs1057524223
NM_001130438.3(SPTAN1):c.1807-7T>G rs1554745600
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=) rs1057523726
NM_001130438.3(SPTAN1):c.1869A>T (p.Ala623=) rs1057523195
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr) rs1564224960
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr) rs1427892796
NM_001130438.3(SPTAN1):c.1949C>T (p.Ala650Val) rs1057524587
NM_001130438.3(SPTAN1):c.1953T>C (p.Ala651=) rs376957536
NM_001130438.3(SPTAN1):c.1954C>T (p.Arg652Cys)
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His) rs370062384
NM_001130438.3(SPTAN1):c.1962T>C (p.Asn654=) rs748193081
NM_001130438.3(SPTAN1):c.1968G>A (p.Val656=) rs968327265
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879
NM_001130438.3(SPTAN1):c.2011+28A>G
NM_001130438.3(SPTAN1):c.2012-146T>C
NM_001130438.3(SPTAN1):c.2025T>C (p.Arg675=)
NM_001130438.3(SPTAN1):c.2037G>C (p.Gln679His) rs777716023
NM_001130438.3(SPTAN1):c.2064G>A (p.Glu688=) rs587784433
NM_001130438.3(SPTAN1):c.2094A>C (p.Glu698Asp) rs1554746116
NM_001130438.3(SPTAN1):c.2109G>A (p.Ser703=)
NM_001130438.3(SPTAN1):c.2158C>A (p.His720Asn)
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg) rs759274173
NM_001130438.3(SPTAN1):c.2163= (p.Ala721=) rs10760566
NM_001130438.3(SPTAN1):c.2193+4G>A
NM_001130438.3(SPTAN1):c.2194-13T>G rs28676915
NM_001130438.3(SPTAN1):c.2194-89G>A
NM_001130438.3(SPTAN1):c.21A>T (p.Lys7Asn) rs1554735370
NM_001130438.3(SPTAN1):c.2201T>C (p.Ile734Thr) rs1214164128
NM_001130438.3(SPTAN1):c.2205T>C (p.Asp735=) rs781437907
NM_001130438.3(SPTAN1):c.2209A>G (p.Ile737Val) rs1129922
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser) rs200241514
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) rs780658554
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
NM_001130438.3(SPTAN1):c.2233C>A (p.Gln745Lys) rs769094437
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met) rs372062686
NM_001130438.3(SPTAN1):c.2308_2310del (p.Lys770del) rs1554746442
NM_001130438.3(SPTAN1):c.2324C>T (p.Ala775Val) rs144649618
NM_001130438.3(SPTAN1):c.2326C>T (p.Arg776Trp)
NM_001130438.3(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2343C>T (p.Ala781=) rs34084388
NM_001130438.3(SPTAN1):c.2344G>A (p.Asp782Asn) rs199720383
NM_001130438.3(SPTAN1):c.237+10A>G rs746224717
NM_001130438.3(SPTAN1):c.237+335G>A
NM_001130438.3(SPTAN1):c.237+4C>T rs371350283
NM_001130438.3(SPTAN1):c.238-9C>T rs367687143
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln) rs774283264
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr) rs766491965
NM_001130438.3(SPTAN1):c.2438-13T>G rs587784434
NM_001130438.3(SPTAN1):c.2438-15G>A rs201319189
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr) rs1060503490
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg) rs1564229501
NM_001130438.3(SPTAN1):c.2547C>G (p.Ala849=) rs1554746826
NM_001130438.3(SPTAN1):c.2548A>C (p.Met850Leu) rs371776794
NM_001130438.3(SPTAN1):c.2552T>C (p.Val851Ala) rs748110014
NM_001130438.3(SPTAN1):c.2560+43G>A rs4836615
NM_001130438.3(SPTAN1):c.2560+47C>T rs4837284
NM_001130438.3(SPTAN1):c.2560+8del rs768243872
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser) rs1185428521
NM_001130438.3(SPTAN1):c.2588C>G (p.Ala863Gly) rs775545003
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.3(SPTAN1):c.2645G>A (p.Arg882His) rs1486021166
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys) rs886043660
NM_001130438.3(SPTAN1):c.2666_2668del (p.Ser889del) rs796053332
NM_001130438.3(SPTAN1):c.2674G>T (p.Ala892Ser) rs587784435
NM_001130438.3(SPTAN1):c.2688T>C (p.Phe896=)
NM_001130438.3(SPTAN1):c.2700C>T (p.Asn900=) rs147466898
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp) rs886063502
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala) rs1064797353
NM_001130438.3(SPTAN1):c.2753A>G (p.Tyr918Cys) rs138275607
NM_001130438.3(SPTAN1):c.2760G>A (p.Lys920=) rs773435271
NM_001130438.3(SPTAN1):c.2763C>T (p.Asp921=)
NM_001130438.3(SPTAN1):c.2778+10C>A rs369106919
NM_001130438.3(SPTAN1):c.2778+18G>A rs372896131
NM_001130438.3(SPTAN1):c.2778+196C>G
NM_001130438.3(SPTAN1):c.2778+20G>A rs201463905
NM_001130438.3(SPTAN1):c.2778+257G>A
NM_001130438.3(SPTAN1):c.2778+8G>C rs375037363
NM_001130438.3(SPTAN1):c.2779-143T>C
NM_001130438.3(SPTAN1):c.2785C>T (p.Leu929=) rs1057522083
NM_001130438.3(SPTAN1):c.2796C>T (p.His932=) rs755933560
NM_001130438.3(SPTAN1):c.2857G>T (p.Ala953Ser) rs796053300
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro) rs796053301
NM_001130438.3(SPTAN1):c.2871+8T>C rs1485998372
NM_001130438.3(SPTAN1):c.2872-42G>A rs4307429
NM_001130438.3(SPTAN1):c.2880G>A (p.Val960=) rs150731568
NM_001130438.3(SPTAN1):c.2888C>T (p.Thr963Met) rs375623472
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.3(SPTAN1):c.2928C>T (p.Tyr976=) rs756378105
NM_001130438.3(SPTAN1):c.2940G>C (p.Glu980Asp) rs886063503
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln) rs1057521149
NM_001130438.3(SPTAN1):c.2985C>T (p.Thr995=)
NM_001130438.3(SPTAN1):c.3006+100G>C
NM_001130438.3(SPTAN1):c.3030C>T (p.Asn1010=) rs202129574
NM_001130438.3(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu) rs370748662
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3057G>A (p.Ala1019=) rs759833805
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr) rs779759134
NM_001130438.3(SPTAN1):c.3081C>G (p.Ala1027=) rs749251486
NM_001130438.3(SPTAN1):c.3088G>C (p.Ala1030Pro) rs1554751018
NM_001130438.3(SPTAN1):c.3095G>A (p.Arg1032Gln)
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp) rs374682395
NM_001130438.3(SPTAN1):c.3118G>A (p.Gly1040Ser) rs796053302
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp) rs794727356
NM_001130438.3(SPTAN1):c.3134G>A (p.Arg1045Gln)
NM_001130438.3(SPTAN1):c.3155+153G>C
NM_001130438.3(SPTAN1):c.3155+17G>T rs765814431
NM_001130438.3(SPTAN1):c.3156-10C>T rs745910160
NM_001130438.3(SPTAN1):c.3156-4G>A rs549061995
NM_001130438.3(SPTAN1):c.3156G>A (p.Gln1052=) rs749768274
NM_001130438.3(SPTAN1):c.315T>C (p.Thr105=) rs1182605348
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys) rs200872929
NM_001130438.3(SPTAN1):c.3161G>A (p.Arg1054His) rs561564501
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg) rs1564197227
NM_001130438.3(SPTAN1):c.3177C>T (p.Ala1059=)
NM_001130438.3(SPTAN1):c.3181A>G (p.Ser1061Gly) rs1369204255
NM_001130438.3(SPTAN1):c.3186A>T (p.Val1062=) rs372807389
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys) rs587784436
NM_001130438.3(SPTAN1):c.3215+15_3215+16del rs551595039
NM_001130438.3(SPTAN1):c.3235C>G (p.Leu1079Val) rs559839676
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His) rs369611161
NM_001130438.3(SPTAN1):c.3262G>A (p.Glu1088Lys) rs780374369
NM_001130438.3(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.3(SPTAN1):c.3337G>A (p.Ala1113Thr) rs143309753
NM_001130438.3(SPTAN1):c.3358G>A (p.Gly1120Arg) rs748698544
NM_001130438.3(SPTAN1):c.3414+3A>G rs1554752325
NM_001130438.3(SPTAN1):c.3414+4T>C rs794727389
NM_001130438.3(SPTAN1):c.3415-155C>T
NM_001130438.3(SPTAN1):c.3415-305T>C
NM_001130438.3(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.3(SPTAN1):c.3441G>A (p.Leu1147=) rs113157213
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys) rs1379161622
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val) rs1060503492
NM_001130438.3(SPTAN1):c.3486C>G (p.Leu1162=) rs2227864
NM_001130438.3(SPTAN1):c.3486C>T (p.Leu1162=) rs2227864
NM_001130438.3(SPTAN1):c.3490G>A (p.Ala1164Thr) rs796053316
NM_001130438.3(SPTAN1):c.3495G>A (p.Glu1165=) rs886063504
NM_001130438.3(SPTAN1):c.3510G>A (p.Val1170=)
NM_001130438.3(SPTAN1):c.3518A>C (p.Gln1173Pro) rs141696651
NM_001130438.3(SPTAN1):c.3519+5G>T rs915019884
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.3(SPTAN1):c.3520-19T>G rs373387372
NM_001130438.3(SPTAN1):c.3520-209A>G
NM_001130438.3(SPTAN1):c.3520-93A>G
NM_001130438.3(SPTAN1):c.3528T>C (p.Tyr1176=)
NM_001130438.3(SPTAN1):c.3536T>C (p.Met1179Thr) rs564155435
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser) rs1554754141
NM_001130438.3(SPTAN1):c.3540C>G (p.Pro1180=) rs1060504932
NM_001130438.3(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.3(SPTAN1):c.3572C>T (p.Pro1191Leu) rs796053304
NM_001130438.3(SPTAN1):c.3574T>C (p.Trp1192Arg) rs796053305
NM_001130438.3(SPTAN1):c.3579+225C>T
NM_001130438.3(SPTAN1):c.3579+228A>G
NM_001130438.3(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.3(SPTAN1):c.3580-279C>G
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro) rs781124530
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg) rs745798632
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met) rs1312920158
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp) rs1376670407
NM_001130438.3(SPTAN1):c.3627+164C>T
NM_001130438.3(SPTAN1):c.3627+201G>A
NM_001130438.3(SPTAN1):c.3627+312C>T
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu) rs942861981
NM_001130438.3(SPTAN1):c.363+144C>T
NM_001130438.3(SPTAN1):c.363+1G>A rs1554737064
NM_001130438.3(SPTAN1):c.363+274A>G
NM_001130438.3(SPTAN1):c.3639G>A (p.Glu1213=) rs750007543
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser) rs796053306
NM_001130438.3(SPTAN1):c.3666C>T (p.Ala1222=)
NM_001130438.3(SPTAN1):c.3669G>C (p.Glu1223Asp) rs747129367
NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.3(SPTAN1):c.368G>A (p.Arg123His) rs775634580
NM_001130438.3(SPTAN1):c.3693C>T (p.Ser1231=) rs142305088
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg) rs1554756114
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641
NM_001130438.3(SPTAN1):c.3762A>G (p.Gln1254=) rs533042543
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser) rs552623597
NM_001130438.3(SPTAN1):c.3786A>G (p.Gly1262=) rs199902257
NM_001130438.3(SPTAN1):c.3803T>C (p.Val1268Ala) rs146153626
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=) rs745997127
NM_001130438.3(SPTAN1):c.3834C>T (p.Phe1278=)
NM_001130438.3(SPTAN1):c.3849G>A (p.Ala1283=) rs117614529
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
NM_001130438.3(SPTAN1):c.3865-7C>T
NM_001130438.3(SPTAN1):c.3891G>A (p.Glu1297=) rs774930310
NM_001130438.3(SPTAN1):c.3899T>C (p.Ile1300Thr) rs1048236
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.3936A>G (p.Glu1312=)
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)
NM_001130438.3(SPTAN1):c.3948G>A (p.Glu1316=) rs1278108281
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn) rs756084170
NM_001130438.3(SPTAN1):c.3967A>G (p.Ser1323Gly) rs796053307
NM_001130438.3(SPTAN1):c.3970C>T (p.Leu1324=) rs147233101
NM_001130438.3(SPTAN1):c.3974G>T (p.Gly1325Val) rs886043530
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn) rs574740801
NM_001130438.3(SPTAN1):c.4045C>T (p.Arg1349Trp) rs771862017
NM_001130438.3(SPTAN1):c.4046+4C>T rs370704701
NM_001130438.3(SPTAN1):c.4046+5G>A rs541570752
NM_001130438.3(SPTAN1):c.4046+6G>A
NM_001130438.3(SPTAN1):c.4047-14G>T rs558154123
NM_001130438.3(SPTAN1):c.4048G>A (p.Asp1350Asn) rs1564278818
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys) rs1564278853
NM_001130438.3(SPTAN1):c.4075C>T (p.Arg1359Trp) rs150944593
NM_001130438.3(SPTAN1):c.4083G>A (p.Leu1361=) rs1057523448
NM_001130438.3(SPTAN1):c.4099C>T (p.Leu1367=) rs1564278985
NM_001130438.3(SPTAN1):c.4116C>T (p.Thr1372=) rs148554113
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro) rs776728710
NM_001130438.3(SPTAN1):c.413T>C (p.Met138Thr) rs767527240
NM_001130438.3(SPTAN1):c.4146+20delinsAC rs1554757479
NM_001130438.3(SPTAN1):c.4147-13C>G rs374834326
NM_001130438.3(SPTAN1):c.4147-13C>T rs374834326
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp) rs770189298
NM_001130438.3(SPTAN1):c.416G>A (p.Arg139Gln) rs773288631
NM_001130438.3(SPTAN1):c.4188G>A (p.Gln1396=) rs763156575
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4215G>T (p.Leu1405=) rs754607337
NM_001130438.3(SPTAN1):c.4224C>T (p.His1408=) rs200180598
NM_001130438.3(SPTAN1):c.4239C>T (p.Ser1413=) rs150097844
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys) rs1156309213
NM_001130438.3(SPTAN1):c.4260T>G (p.Leu1420=) rs146150071
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr)
NM_001130438.3(SPTAN1):c.4272C>T (p.Asp1424=) rs1554757619
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His) rs762216368
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.3(SPTAN1):c.4288C>G (p.Leu1430Val) rs1057523806
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys) rs373033857
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His) rs752347538
NM_001130438.3(SPTAN1):c.433C>G (p.Leu145Val) rs754419719
NM_001130438.3(SPTAN1):c.4344+8T>C rs886063505
NM_001130438.3(SPTAN1):c.4345-14C>T
NM_001130438.3(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.3(SPTAN1):c.4437C>T (p.Ser1479=) rs373857333
NM_001130438.3(SPTAN1):c.4458del (p.Lys1486fs) rs1564280617
NM_001130438.3(SPTAN1):c.4479G>A (p.Ala1493=)
NM_001130438.3(SPTAN1):c.4485C>T (p.Asn1495=) rs767175912
NM_001130438.3(SPTAN1):c.4491+289G>A
NM_001130438.3(SPTAN1):c.4518C>G (p.Ala1506=) rs777801455
NM_001130438.3(SPTAN1):c.4524C>T (p.Ala1508=)
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn) rs757714696
NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu) rs139113273
NM_001130438.3(SPTAN1):c.4536C>T (p.Ile1512=) rs367772623
NM_001130438.3(SPTAN1):c.4540G>A (p.Ala1514Thr) rs145551982
NM_001130438.3(SPTAN1):c.4543G>A (p.Gly1515Ser) rs149899658
NM_001130438.3(SPTAN1):c.4543G>T (p.Gly1515Cys) rs149899658
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro) rs1060503491
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
NM_001130438.3(SPTAN1):c.4551T>C (p.Tyr1517=) rs570247500
NM_001130438.3(SPTAN1):c.4552G>A (p.Ala1518Thr) rs1564282020
NM_001130438.3(SPTAN1):c.4555A>G (p.Lys1519Glu) rs576419070
NM_001130438.3(SPTAN1):c.4558G>A (p.Gly1520Arg) rs374801331
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys) rs796053317
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.3(SPTAN1):c.4596-19C>G rs1317299803
NM_001130438.3(SPTAN1):c.4596-5T>C
NM_001130438.3(SPTAN1):c.4604G>A (p.Arg1535His) rs745394212
NM_001130438.3(SPTAN1):c.4674G>T (p.Arg1558=) rs1554758298
NM_001130438.3(SPTAN1):c.4758+3A>C
NM_001130438.3(SPTAN1):c.4773+13T>A rs539111821
NM_001130438.3(SPTAN1):c.4774-12del rs1064795314
NM_001130438.3(SPTAN1):c.4774-18T>A rs534497861
NM_001130438.3(SPTAN1):c.4774-223A>G
NM_001130438.3(SPTAN1):c.4785G>A (p.Gln1595=) rs746824729
NM_001130438.3(SPTAN1):c.480C>T (p.Asp160=) rs201249013
NM_001130438.3(SPTAN1):c.4813C>T (p.His1605Tyr) rs1564286708
NM_001130438.3(SPTAN1):c.4821C>T (p.Asn1607=) rs539062498
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp) rs1131691643
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln) rs1564286745
NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) rs1554759745
NM_001130438.3(SPTAN1):c.4884C>T (p.Ala1628=) rs759241143
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=) rs1057522726
NM_001130438.3(SPTAN1):c.4905+19C>T rs140922514
NM_001130438.3(SPTAN1):c.4905+19dup rs763250092
NM_001130438.3(SPTAN1):c.4905+20G>A rs200959763
NM_001130438.3(SPTAN1):c.4905+41C>G rs7024498
NM_001130438.3(SPTAN1):c.4905+7C>T rs752304112
NM_001130438.3(SPTAN1):c.4906-15C>T rs756241253
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro) rs1554759970
NM_001130438.3(SPTAN1):c.4925C>A (p.Ala1642Asp) rs1057522444
NM_001130438.3(SPTAN1):c.4930C>G (p.Gln1644Glu) rs1312145167
NM_001130438.3(SPTAN1):c.4950A>G (p.Gln1650=) rs375199636
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu) rs374723711
NM_001130438.3(SPTAN1):c.4958C>T (p.Ala1653Val) rs374723711
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg) rs757109566
NM_001130438.3(SPTAN1):c.5013G>A (p.Gly1671=) rs886063506
NM_001130438.3(SPTAN1):c.5019G>A (p.Lys1673=) rs114745823
NM_001130438.3(SPTAN1):c.5023T>A (p.Phe1675Ile) rs1129924
NM_001130438.3(SPTAN1):c.504+157_504+158insCTCTCCAGCTCTCC
NM_001130438.3(SPTAN1):c.504+159_504+160insGC
NM_001130438.3(SPTAN1):c.504+162_504+163insCTCTAG
NM_001130438.3(SPTAN1):c.5044-276G>T
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552
NM_001130438.3(SPTAN1):c.505-14T>C rs372907681
NM_001130438.3(SPTAN1):c.505-18C>T rs1057522078
NM_001130438.3(SPTAN1):c.505-20C>T rs779640676
NM_001130438.3(SPTAN1):c.505-4A>T rs377129746
NM_001130438.3(SPTAN1):c.505-89C>T
NM_001130438.3(SPTAN1):c.5064C>T (p.Ser1688=) rs1046339532
NM_001130438.3(SPTAN1):c.5085= (p.Leu1695=) rs1415568
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val) rs771906889
NM_001130438.3(SPTAN1):c.513T>C (p.Ile171=)
NM_001130438.3(SPTAN1):c.5148+17G>A rs758490204
NM_001130438.3(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.3(SPTAN1):c.5171G>T (p.Ser1724Ile) rs375195855
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn) rs148294757
NM_001130438.3(SPTAN1):c.5206G>C (p.Asp1736His)
NM_001130438.3(SPTAN1):c.5236A>G (p.Thr1746Ala)
NM_001130438.3(SPTAN1):c.5239A>G (p.Ile1747Val) rs780622472
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198
NM_001130438.3(SPTAN1):c.5274G>A (p.Ala1758=) rs775305903
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val) rs368402085
NM_001130438.3(SPTAN1):c.5301A>G (p.Glu1767=) rs200641770
NM_001130438.3(SPTAN1):c.5304C>T (p.Ser1768=) rs1057524335
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
NM_001130438.3(SPTAN1):c.5322C>T (p.Phe1774=) rs780530803
NM_001130438.3(SPTAN1):c.5350T>C (p.Trp1784Arg) rs796053309
NM_001130438.3(SPTAN1):c.5358-16C>T rs143969764
NM_001130438.3(SPTAN1):c.5358-18T>A rs754212051
NM_001130438.3(SPTAN1):c.5358-195A>G
NM_001130438.3(SPTAN1):c.5358-214C>T
NM_001130438.3(SPTAN1):c.5358-5T>A rs1057524585
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
NM_001130438.3(SPTAN1):c.5379C>T (p.Gly1793=) rs1554763002
NM_001130438.3(SPTAN1):c.5391C>G (p.Tyr1797Ter) rs146418243
NM_001130438.3(SPTAN1):c.5400C>G (p.Asp1800Glu) rs779973472
NM_001130438.3(SPTAN1):c.5406C>G (p.Thr1802=) rs2227862
NM_001130438.3(SPTAN1):c.5406C>T (p.Thr1802=) rs2227862
NM_001130438.3(SPTAN1):c.5415G>A (p.Gln1805=) rs142964132
NM_001130438.3(SPTAN1):c.5433C>T (p.His1811=) rs772382171
NM_001130438.3(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.3(SPTAN1):c.5439G>T (p.Arg1813=) rs766924448
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu) rs561973288
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr) rs796053320
NM_001130438.3(SPTAN1):c.5478+110C>G
NM_001130438.3(SPTAN1):c.5478+12G>A rs41275900
NM_001130438.3(SPTAN1):c.5479-41A>C rs7864187
NM_001130438.3(SPTAN1):c.5479-5G>A rs1554763238
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser) rs1287628912
NM_001130438.3(SPTAN1):c.5508C>T (p.Ser1836=) rs777780283
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val) rs781083220
NM_001130438.3(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.3(SPTAN1):c.5529A>G (p.Lys1843=)
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp) rs148402616
NM_001130438.3(SPTAN1):c.5552C>T (p.Ala1851Val) rs11543347
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
NM_001130438.3(SPTAN1):c.55C>T (p.Arg19Trp) rs748232676
NM_001130438.3(SPTAN1):c.5601-6_5601-5del rs781645028
NM_001130438.3(SPTAN1):c.5648A>G (p.Asn1883Ser) rs200248814
NM_001130438.3(SPTAN1):c.5649T>C (p.Asn1883=) rs1057522205
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
NM_001130438.3(SPTAN1):c.5688C>A (p.Thr1896=) rs749391487
NM_001130438.3(SPTAN1):c.5688C>G (p.Thr1896=) rs749391487
NM_001130438.3(SPTAN1):c.5689C>T (p.Leu1897=) rs755434212
NM_001130438.3(SPTAN1):c.5724C>T (p.Ala1908=) rs886063507
NM_001130438.3(SPTAN1):c.5733+12A>G rs769356785
NM_001130438.3(SPTAN1):c.5734-11T>G rs1057521318
NM_001130438.3(SPTAN1):c.5734-234G>T
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.5789G>A (p.Arg1930His) rs771921943
NM_001130438.3(SPTAN1):c.5790C>T (p.Arg1930=) rs144435438
NM_001130438.3(SPTAN1):c.5820C>T (p.Asp1940=) rs147815147
NM_001130438.3(SPTAN1):c.5832+9A>G rs1431187706
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr) rs878854246
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys) rs920545433
NM_001130438.3(SPTAN1):c.5880C>T (p.Asn1960=) rs372782253
NM_001130438.3(SPTAN1):c.5881G>A (p.Gly1961Arg)
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn) rs778709187
NM_001130438.3(SPTAN1):c.5907T>C (p.Ala1969=) rs768986492
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn) rs777407223
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)
NM_001130438.3(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
NM_001130438.3(SPTAN1):c.5941del (p.Ser1981fs) rs1564311685
NM_001130438.3(SPTAN1):c.5949C>T (p.Phe1983=) rs762358113
NM_001130438.3(SPTAN1):c.5973C>T (p.Asp1991=) rs1060504931
NM_001130438.3(SPTAN1):c.5981A>G (p.Glu1994Gly) rs11543346
NM_001130438.3(SPTAN1):c.5993-10C>G rs773841663
NM_001130438.3(SPTAN1):c.5993-9G>A rs761329975
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg) rs754276364
NM_001130438.3(SPTAN1):c.6027T>G (p.Tyr2009Ter) rs1554766334
NM_001130438.3(SPTAN1):c.603T>C (p.His201=) rs370807034
NM_001130438.3(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.3(SPTAN1):c.6055C>A (p.Leu2019Ile) rs796053310
NM_001130438.3(SPTAN1):c.6069+7C>T rs1554766358
NM_001130438.3(SPTAN1):c.6070-12C>T
NM_001130438.3(SPTAN1):c.6078T>C (p.Phe2026=) rs776794393
NM_001130438.3(SPTAN1):c.6081C>T (p.Asp2027=) rs150801649
NM_001130438.3(SPTAN1):c.6090G>A (p.Leu2030=) rs761497643
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6117C>G (p.Ala2039=) rs1310120255
NM_001130438.3(SPTAN1):c.6133A>G (p.Lys2045Glu) rs753515426
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr) rs762645157
NM_001130438.3(SPTAN1):c.6151G>A (p.Ala2051Thr) rs777950008
NM_001130438.3(SPTAN1):c.6159C>T (p.His2053=) rs150902677
NM_001130438.3(SPTAN1):c.615T>A (p.Val205=) rs763385120
NM_001130438.3(SPTAN1):c.6183C>T (p.Ala2061=) rs775886527
NM_001130438.3(SPTAN1):c.6189C>T (p.His2063=) rs367629442
NM_001130438.3(SPTAN1):c.6190G>A (p.Ala2064Thr) rs201411901
NM_001130438.3(SPTAN1):c.6193T>C (p.Ser2065Pro) rs796053311
NM_001130438.3(SPTAN1):c.6195C>T (p.Ser2065=) rs760243298
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly) rs766038302
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg) rs754910706
NM_001130438.3(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.3(SPTAN1):c.6238C>T (p.Arg2080Cys) rs1564315398
NM_001130438.3(SPTAN1):c.6247A>C (p.Lys2083Gln)
NM_001130438.3(SPTAN1):c.6247_6248delinsCT (p.Lys2083Leu) rs1064794380
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro) rs1564315528
NM_001130438.3(SPTAN1):c.6270C>A (p.His2090Gln) rs370102482
NM_001130438.3(SPTAN1):c.6270C>T (p.His2090=) rs370102482
NM_001130438.3(SPTAN1):c.6273_6274delinsTT (p.Arg2092Cys) rs796053333
NM_001130438.3(SPTAN1):c.6275G>A (p.Arg2092His) rs1301624113
NM_001130438.3(SPTAN1):c.6280-27C>T rs3737308
NM_001130438.3(SPTAN1):c.6280-5T>A rs746651127
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=) rs1554766786
NM_001130438.3(SPTAN1):c.6303C>T (p.Phe2101=) rs1057522086
NM_001130438.3(SPTAN1):c.6308A>G (p.Lys2103Arg) rs796053322
NM_001130438.3(SPTAN1):c.6319G>A (p.Ala2107Thr) rs1131691448
NM_001130438.3(SPTAN1):c.6343G>T (p.Ala2115Ser) rs1057522441
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys) rs1193718145
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His) rs763928650
NM_001130438.3(SPTAN1):c.6408G>C (p.Glu2136Asp) rs199930602
NM_001130438.3(SPTAN1):c.6414C>T (p.His2138=) rs537595625
NM_001130438.3(SPTAN1):c.6417C>T (p.Asp2139=) rs140418358
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507
NM_001130438.3(SPTAN1):c.6420C>T (p.Ala2140=)
NM_001130438.3(SPTAN1):c.6424C>T (p.Arg2142Cys) rs796053323
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His) rs796053324
NM_001130438.3(SPTAN1):c.6468C>T (p.Ala2156=) rs551663711
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly)
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys) rs780696613
NM_001130438.3(SPTAN1):c.6488A>G (p.Lys2163Arg) rs144289764
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys) rs775190610
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6499G>A (p.Val2167Ile) rs371095095
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749
NM_001130438.3(SPTAN1):c.651+219A>G
NM_001130438.3(SPTAN1):c.651+37A>C rs2297769
NM_001130438.3(SPTAN1):c.652-5T>C rs1029752624
NM_001130438.3(SPTAN1):c.652-6G>A rs115815276
NM_001130438.3(SPTAN1):c.6532G>A (p.Glu2178Lys) rs886063508
NM_001130438.3(SPTAN1):c.6534G>A (p.Glu2178=)
NM_001130438.3(SPTAN1):c.6549C>A (p.Thr2183=) rs116778543
NM_001130438.3(SPTAN1):c.6561A>T (p.Leu2187=) rs1482545101
NM_001130438.3(SPTAN1):c.6576+12G>A rs144725581
NM_001130438.3(SPTAN1):c.6576+228G>C
NM_001130438.3(SPTAN1):c.6576+249T>C
NM_001130438.3(SPTAN1):c.6576+284C>T
NM_001130438.3(SPTAN1):c.6577-10del rs1064794959
NM_001130438.3(SPTAN1):c.6577-121C>T
NM_001130438.3(SPTAN1):c.6577-13dup rs761170802
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
NM_001130438.3(SPTAN1):c.6605_6607del (p.Gln2202del) rs398122865
NM_001130438.3(SPTAN1):c.6608G>A (p.Arg2203Gln) rs560719289
NM_001130438.3(SPTAN1):c.6610C>T (p.Arg2204Trp) rs1057524104
NM_001130438.3(SPTAN1):c.6616_6618GAG[1] (p.Glu2207del) rs587784438
NM_001130438.3(SPTAN1):c.6652C>T (p.His2218Tyr) rs886043546
NM_001130438.3(SPTAN1):c.6654C>T (p.His2218=) rs372825476
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.6689+10C>T rs769263723
NM_001130438.3(SPTAN1):c.6689+17G>A rs143675512
NM_001130438.3(SPTAN1):c.6699C>T (p.Leu2233=) rs1564320456
NM_001130438.3(SPTAN1):c.6703G>A (p.Asp2235Asn) rs1085307862
NM_001130438.3(SPTAN1):c.6707+10_6707+12delinsTTC
NM_001130438.3(SPTAN1):c.6707+118A>G
NM_001130438.3(SPTAN1):c.6707+139G>A
NM_001130438.3(SPTAN1):c.6707+220G>A
NM_001130438.3(SPTAN1):c.6707+251C>A
NM_001130438.3(SPTAN1):c.6708-244C>T
NM_001130438.3(SPTAN1):c.6708-47G>A rs7866175
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.3(SPTAN1):c.6726G>A (p.Glu2242=) rs745750589
NM_001130438.3(SPTAN1):c.6738C>T (p.Leu2246=) rs762644827
NM_001130438.3(SPTAN1):c.6762+10C>A rs367706466
NM_001130438.3(SPTAN1):c.6762+10C>T rs367706466
NM_001130438.3(SPTAN1):c.6762+11G>A rs775553506
NM_001130438.3(SPTAN1):c.6762+151A>C
NM_001130438.3(SPTAN1):c.6762+251dup
NM_001130438.3(SPTAN1):c.6762+288T>G
NM_001130438.3(SPTAN1):c.6762+3_6762+6del rs1554768212
NM_001130438.3(SPTAN1):c.6763-44G>A
NM_001130438.3(SPTAN1):c.6763-7C>T rs587784439
NM_001130438.3(SPTAN1):c.6763C>T (p.Arg2255Cys) rs372779649
NM_001130438.3(SPTAN1):c.6790A>C (p.Arg2264=)
NM_001130438.3(SPTAN1):c.6794G>C (p.Ser2265Thr) rs796053326
NM_001130438.3(SPTAN1):c.6810C>T (p.Ile2270=) rs558449802
NM_001130438.3(SPTAN1):c.6825C>T (p.Ala2275=) rs755559513
NM_001130438.3(SPTAN1):c.6826G>A (p.Ala2276Thr)
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) rs1441152520
NM_001130438.3(SPTAN1):c.6858G>A (p.Lys2286=) rs750291744
NM_001130438.3(SPTAN1):c.6864G>A (p.Thr2288=) rs577730526
NM_001130438.3(SPTAN1):c.6876C>T (p.Thr2292=) rs886063509
NM_001130438.3(SPTAN1):c.6885C>T (p.Leu2295=) rs76767787
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val) rs796053327
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1]) rs587784440
NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[3] (p.2300_2302DQL[3]) rs587784440
NM_001130438.3(SPTAN1):c.6910_6918dup (p.Gln2304_Gly2306dup) rs796053334
NM_001130438.3(SPTAN1):c.6917_6922GCATGC[3] (p.Arg2308_Met2309dup) rs796053335
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu) rs1554769022
NM_001130438.3(SPTAN1):c.6959+15T>C rs776795375
NM_001130438.3(SPTAN1):c.6959+4C>T
NM_001130438.3(SPTAN1):c.6959+5C>G rs1057523269
NM_001130438.3(SPTAN1):c.6959+5C>T rs1057523269
NM_001130438.3(SPTAN1):c.6959+6C>T rs542848685
NM_001130438.3(SPTAN1):c.6959+7G>A rs373990901
NM_001130438.3(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=) rs1276832919
NM_001130438.3(SPTAN1):c.698_723del (p.Val233fs) rs1554741638
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu) rs1554769099
NM_001130438.3(SPTAN1):c.7013+18C>T rs368329742
NM_001130438.3(SPTAN1):c.7013+19G>A rs370654629
NM_001130438.3(SPTAN1):c.7013+7T>C rs776507647
NM_001130438.3(SPTAN1):c.7014-16C>T rs137913528
NM_001130438.3(SPTAN1):c.7014-16_7014-13delinsAGGT rs796053336
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570
NM_001130438.3(SPTAN1):c.7074C>T (p.Arg2358=) rs771456936
NM_001130438.3(SPTAN1):c.7090C>T (p.Leu2364=) rs374893683
NM_001130438.3(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001130438.3(SPTAN1):c.7121C>G (p.Pro2374Arg) rs796053330
NM_001130438.3(SPTAN1):c.7128C>T (p.Phe2376=) rs369792563
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys) rs757162652
NM_001130438.3(SPTAN1):c.7135A>G (p.Ile2379Val) rs770358940
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
NM_001130438.3(SPTAN1):c.7146G>A (p.Thr2382=) rs75028792
NM_001130438.3(SPTAN1):c.7155G>A (p.Pro2385=) rs200456378
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
NM_001130438.3(SPTAN1):c.7160+10_7160+13del rs554161838
NM_001130438.3(SPTAN1):c.7160+27G>A
NM_001130438.3(SPTAN1):c.7160+9A>G rs748642362
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736
NM_001130438.3(SPTAN1):c.7161-9C>G
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile) rs1057520841
NM_001130438.3(SPTAN1):c.7227G>A (p.Lys2409=) rs1564332163
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val) rs768195496
NM_001130438.3(SPTAN1):c.7248C>T (p.Ser2416=) rs148984013
NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln) rs772995493
NM_001130438.3(SPTAN1):c.7260C>T (p.Ala2420=) rs760748641
NM_001130438.3(SPTAN1):c.7275A>G (p.Gly2425=) rs1239084886
NM_001130438.3(SPTAN1):c.727C>G (p.Leu243Val) rs1462279694
NM_001130438.3(SPTAN1):c.7284C>T (p.Tyr2428=) rs201348505
NM_001130438.3(SPTAN1):c.7305C>T (p.Tyr2435=) rs527570862
NM_001130438.3(SPTAN1):c.7308+9del rs1191675267
NM_001130438.3(SPTAN1):c.7309-12_7309-11del rs770948927
NM_001130438.3(SPTAN1):c.7309-15T>C rs370705867
NM_001130438.3(SPTAN1):c.7309-3C>A rs777355476
NM_001130438.3(SPTAN1):c.7316C>T (p.Thr2439Ile) rs746532292
NM_001130438.3(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
NM_001130438.3(SPTAN1):c.7350G>A (p.Met2450Ile) rs761874094
NM_001130438.3(SPTAN1):c.7359C>T (p.Tyr2453=) rs138634476
NM_001130438.3(SPTAN1):c.7360G>A (p.Val2454Met) rs766616293
NM_001130438.3(SPTAN1):c.7365C>T (p.Asp2455=) rs142777123
NM_001130438.3(SPTAN1):c.7366G>A (p.Gly2456Ser) rs199866550
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys) rs1160694512
NM_001130438.3(SPTAN1):c.7377C>T (p.Arg2459=) rs756798259
NM_001130438.3(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.3(SPTAN1):c.7390G>A (p.Ala2464Thr)
NM_001130438.3(SPTAN1):c.7392G>A (p.Ala2464=) rs149318543
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085
NM_001130438.3(SPTAN1):c.7396G>A (p.Asp2466Asn) rs367776636
NM_001130438.3(SPTAN1):c.7401C>T (p.Tyr2467=) rs766927132
NM_001130438.3(SPTAN1):c.7402G>A (p.Val2468Met) rs754362594
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys) rs759975874
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697
NM_001130438.3(SPTAN1):c.761C>A (p.Ala254Glu) rs794727784
NM_001130438.3(SPTAN1):c.774G>A (p.Gln258=) rs138609094
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
NM_001130438.3(SPTAN1):c.785+12G>C rs774982401
NM_001130438.3(SPTAN1):c.785+20T>C rs529962403
NM_001130438.3(SPTAN1):c.786-17G>T rs367832791
NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)
NM_001130438.3(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.3(SPTAN1):c.872del (p.Gln291fs) rs1564211389
NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
NM_001130438.3(SPTAN1):c.891C>T (p.His297=) rs774303070
NM_001130438.3(SPTAN1):c.89A>G (p.Lys30Arg) rs1554735509
NM_001130438.3(SPTAN1):c.906A>G (p.Arg302=) rs1554741933
NM_001130438.3(SPTAN1):c.922G>A (p.Glu308Lys) rs886063500
NM_001130438.3(SPTAN1):c.930+17G>A rs117436936
NM_001130438.3(SPTAN1):c.931-16C>T rs149289060
NM_001130438.3(SPTAN1):c.943T>C (p.Cys315Arg) rs776064912
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys) rs794727910
NM_001130438.3(SPTAN1):c.959G>A (p.Arg320His) rs140076136
NM_001130438.3(SPTAN1):c.979C>T (p.Leu327=) rs587784442
SPTAN1, 6-BP DUP, NT6923

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