NM_001130438.3(SPTAN1):c.4527C>A (p.Asp1509Glu)
|
rs139113273
|
0.00012
|
NM_001130438.3(SPTAN1):c.1916T>C (p.Ile639Thr)
|
rs1427892796
|
0.00011
|
NM_001130438.3(SPTAN1):c.4243G>C (p.Glu1415Gln)
|
rs745697305
|
0.00010
|
NM_001130438.3(SPTAN1):c.1154A>G (p.Asn385Ser)
|
rs2227863
|
0.00009
|
NM_001130438.3(SPTAN1):c.4039G>A (p.Asp1347Asn)
|
rs574740801
|
0.00009
|
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)
|
rs752578570
|
0.00009
|
NM_001130438.3(SPTAN1):c.3099G>T (p.Glu1033Asp)
|
rs374682395
|
0.00008
|
NM_001130438.3(SPTAN1):c.6235G>A (p.Ala2079Thr)
|
rs377253398
|
0.00008
|
NM_001130438.3(SPTAN1):c.5872G>T (p.Gly1958Cys)
|
rs920545433
|
0.00007
|
NM_001130438.3(SPTAN1):c.2422G>A (p.Ala808Thr)
|
rs766491965
|
0.00006
|
NM_001130438.3(SPTAN1):c.4046G>A (p.Arg1349Gln)
|
rs149367932
|
0.00006
|
NM_001130438.3(SPTAN1):c.5545C>T (p.Arg1849Trp)
|
rs148402616
|
0.00006
|
NM_001130438.3(SPTAN1):c.6709T>A (p.Ser2237Thr)
|
rs770532796
|
0.00006
|
NM_001130438.3(SPTAN1):c.7199T>C (p.Met2400Thr)
|
rs145054594
|
0.00006
|
NM_001130438.3(SPTAN1):c.1645G>A (p.Asp549Asn)
|
rs868661967
|
0.00005
|
NM_001130438.3(SPTAN1):c.2221G>T (p.Ala741Ser)
|
rs200241514
|
0.00005
|
NM_001130438.3(SPTAN1):c.1274A>G (p.Gln425Arg)
|
rs11792065
|
0.00004
|
NM_001130438.3(SPTAN1):c.1667A>G (p.Asn556Ser)
|
rs778489951
|
0.00004
|
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
NM_001130438.3(SPTAN1):c.3779A>G (p.Asn1260Ser)
|
rs552623597
|
0.00004
|
NM_001130438.3(SPTAN1):c.4309C>T (p.Arg1437Cys)
|
rs373033857
|
0.00004
|
NM_001130438.3(SPTAN1):c.4310G>A (p.Arg1437His)
|
rs752347538
|
0.00004
|
NM_001130438.3(SPTAN1):c.6496C>T (p.Arg2166Cys)
|
rs775190610
|
0.00004
|
NM_001130438.3(SPTAN1):c.7309-3C>A
|
rs777355476
|
0.00004
|
NM_001130438.3(SPTAN1):c.1247G>A (p.Ser416Asn)
|
rs773663318
|
0.00003
|
NM_001130438.3(SPTAN1):c.1348G>T (p.Ala450Ser)
|
rs768940761
|
0.00003
|
NM_001130438.3(SPTAN1):c.1936A>G (p.Lys646Glu)
|
rs903037131
|
0.00003
|
NM_001130438.3(SPTAN1):c.2287G>A (p.Val763Met)
|
rs372062686
|
0.00003
|
NM_001130438.3(SPTAN1):c.2393C>T (p.Thr798Met)
|
rs749263783
|
0.00003
|
NM_001130438.3(SPTAN1):c.2572G>T (p.Ala858Ser)
|
rs1185428521
|
0.00003
|
NM_001130438.3(SPTAN1):c.3248G>A (p.Arg1083His)
|
rs369611161
|
0.00003
|
NM_001130438.3(SPTAN1):c.3448A>G (p.Ile1150Val)
|
rs145516440
|
0.00003
|
NM_001130438.3(SPTAN1):c.3941G>A (p.Cys1314Tyr)
|
rs776648566
|
0.00003
|
NM_001130438.3(SPTAN1):c.4028G>A (p.Arg1343His)
|
rs539724071
|
0.00003
|
NM_001130438.3(SPTAN1):c.4261G>T (p.Asp1421Tyr)
|
rs749333383
|
0.00003
|
NM_001130438.3(SPTAN1):c.4351C>G (p.His1451Asp)
|
rs772533230
|
0.00003
|
NM_001130438.3(SPTAN1):c.497A>G (p.Asn166Ser)
|
rs139943747
|
0.00003
|
NM_001130438.3(SPTAN1):c.5308C>T (p.Arg1770Cys)
|
rs371055930
|
0.00003
|
NM_001130438.3(SPTAN1):c.6497G>A (p.Arg2166His)
|
rs200834733
|
0.00003
|
NM_001130438.3(SPTAN1):c.6959+4C>T
|
rs902275859
|
0.00003
|
NM_001130438.3(SPTAN1):c.7222G>A (p.Val2408Ile)
|
rs1057520841
|
0.00003
|
NM_001130438.3(SPTAN1):c.7378G>A (p.Glu2460Lys)
|
rs200531434
|
0.00003
|
NM_001130438.3(SPTAN1):c.1040G>A (p.Arg347His)
|
rs796053314
|
0.00002
|
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys)
|
rs368482631
|
0.00002
|
NM_001130438.3(SPTAN1):c.134G>A (p.Arg45Gln)
|
rs760552878
|
0.00002
|
NM_001130438.3(SPTAN1):c.1550G>C (p.Ser517Thr)
|
rs755356541
|
0.00002
|
NM_001130438.3(SPTAN1):c.1602T>G (p.Ile534Met)
|
rs560390110
|
0.00002
|
NM_001130438.3(SPTAN1):c.1648G>T (p.Ala550Ser)
|
rs371178746
|
0.00002
|
NM_001130438.3(SPTAN1):c.1664G>A (p.Arg555His)
|
rs139998823
|
0.00002
|
NM_001130438.3(SPTAN1):c.1770T>G (p.Asn590Lys)
|
rs781048881
|
0.00002
|
NM_001130438.3(SPTAN1):c.2108C>T (p.Ser703Leu)
|
rs866425525
|
0.00002
|
NM_001130438.3(SPTAN1):c.2193+6G>C
|
rs751573290
|
0.00002
|
NM_001130438.3(SPTAN1):c.2696C>G (p.Ala899Gly)
|
rs745746027
|
0.00002
|
NM_001130438.3(SPTAN1):c.2720G>T (p.Arg907Leu)
|
rs780303413
|
0.00002
|
NM_001130438.3(SPTAN1):c.3641G>A (p.Arg1214His)
|
rs780184944
|
0.00002
|
NM_001130438.3(SPTAN1):c.4076G>A (p.Arg1359Gln)
|
rs1176851202
|
0.00002
|
NM_001130438.3(SPTAN1):c.4265T>C (p.Ile1422Thr)
|
rs140159000
|
0.00002
|
NM_001130438.3(SPTAN1):c.4279C>T (p.Arg1427Cys)
|
rs774559979
|
0.00002
|
NM_001130438.3(SPTAN1):c.4280G>A (p.Arg1427His)
|
rs762216368
|
0.00002
|
NM_001130438.3(SPTAN1):c.4525G>A (p.Asp1509Asn)
|
rs757714696
|
0.00002
|
NM_001130438.3(SPTAN1):c.4564A>G (p.Ile1522Val)
|
rs764323424
|
0.00002
|
NM_001130438.3(SPTAN1):c.4758+3A>C
|
rs774108521
|
0.00002
|
NM_001130438.3(SPTAN1):c.4822G>A (p.Ala1608Thr)
|
rs775707176
|
0.00002
|
NM_001130438.3(SPTAN1):c.4991A>G (p.Lys1664Arg)
|
rs757109566
|
0.00002
|
NM_001130438.3(SPTAN1):c.504+4C>T
|
rs755742062
|
0.00002
|
NM_001130438.3(SPTAN1):c.511A>G (p.Ile171Val)
|
rs771906889
|
0.00002
|
NM_001130438.3(SPTAN1):c.5269A>G (p.Met1757Val)
|
rs141483578
|
0.00002
|
NM_001130438.3(SPTAN1):c.5377G>A (p.Gly1793Ser)
|
rs780658978
|
0.00002
|
NM_001130438.3(SPTAN1):c.5392G>A (p.Gly1798Ser)
|
rs756006714
|
0.00002
|
NM_001130438.3(SPTAN1):c.5468C>T (p.Pro1823Leu)
|
rs561973288
|
0.00002
|
NM_001130438.3(SPTAN1):c.5685G>A (p.Met1895Ile)
|
rs973076703
|
0.00002
|
NM_001130438.3(SPTAN1):c.6053C>T (p.Thr2018Met)
|
rs904934847
|
0.00002
|
NM_001130438.3(SPTAN1):c.641A>G (p.Lys214Arg)
|
rs760419507
|
0.00002
|
NM_001130438.3(SPTAN1):c.6503C>T (p.Ala2168Val)
|
rs767399516
|
0.00002
|
NM_001130438.3(SPTAN1):c.7129G>A (p.Glu2377Lys)
|
rs757162652
|
0.00002
|
NM_001130438.3(SPTAN1):c.7234G>A (p.Glu2412Lys)
|
rs1336849921
|
0.00002
|
NM_001130438.3(SPTAN1):c.1039C>T (p.Arg347Cys)
|
rs754066930
|
0.00001
|
NM_001130438.3(SPTAN1):c.1049C>T (p.Ala350Val)
|
rs765337732
|
0.00001
|
NM_001130438.3(SPTAN1):c.1258G>A (p.Ala420Thr)
|
rs142410041
|
0.00001
|
NM_001130438.3(SPTAN1):c.1286C>T (p.Ala429Val)
|
rs368876195
|
0.00001
|
NM_001130438.3(SPTAN1):c.1306G>A (p.Asp436Asn)
|
rs929796374
|
0.00001
|
NM_001130438.3(SPTAN1):c.1375C>T (p.Arg459Cys)
|
rs772281075
|
0.00001
|
NM_001130438.3(SPTAN1):c.1376G>A (p.Arg459His)
|
rs201948749
|
0.00001
|
NM_001130438.3(SPTAN1):c.1462G>A (p.Ala488Thr)
|
rs972504988
|
0.00001
|
NM_001130438.3(SPTAN1):c.1534T>G (p.Phe512Val)
|
rs147444364
|
0.00001
|
NM_001130438.3(SPTAN1):c.1621A>G (p.Met541Val)
|
rs796053315
|
0.00001
|
NM_001130438.3(SPTAN1):c.1684G>T (p.Ala562Ser)
|
rs773328719
|
0.00001
|
NM_001130438.3(SPTAN1):c.1687A>G (p.Met563Val)
|
rs1344488286
|
0.00001
|
NM_001130438.3(SPTAN1):c.1696C>T (p.Arg566Trp)
|
rs773019990
|
0.00001
|
NM_001130438.3(SPTAN1):c.1697G>A (p.Arg566Gln)
|
rs370304886
|
0.00001
|
NM_001130438.3(SPTAN1):c.1765G>A (p.Val589Ile)
|
rs746961427
|
0.00001
|
NM_001130438.3(SPTAN1):c.1772A>C (p.Glu591Ala)
|
rs1182873506
|
0.00001
|
NM_001130438.3(SPTAN1):c.1824A>G (p.Gln608=)
|
rs1057523726
|
0.00001
|
NM_001130438.3(SPTAN1):c.1883T>C (p.Ile628Thr)
|
rs1564224960
|
0.00001
|
NM_001130438.3(SPTAN1):c.1955G>A (p.Arg652His)
|
rs370062384
|
0.00001
|
NM_001130438.3(SPTAN1):c.2024G>A (p.Arg675His)
|
rs748338558
|
0.00001
|
NM_001130438.3(SPTAN1):c.2158C>T (p.His720Tyr)
|
rs191761167
|
0.00001
|
NM_001130438.3(SPTAN1):c.2159A>G (p.His720Arg)
|
rs759274173
|
0.00001
|
NM_001130438.3(SPTAN1):c.2171A>G (p.Glu724Gly)
|
rs374506067
|
0.00001
|
NM_001130438.3(SPTAN1):c.2225G>A (p.Arg742His)
|
rs146412583
|
0.00001
|
NM_001130438.3(SPTAN1):c.2282C>A (p.Ala761Asp)
|
rs770359554
|
0.00001
|
NM_001130438.3(SPTAN1):c.2395T>C (p.Trp799Arg)
|
rs1852325939
|
0.00001
|
NM_001130438.3(SPTAN1):c.2450T>C (p.Ile817Thr)
|
rs1060503490
|
0.00001
|
NM_001130438.3(SPTAN1):c.2557G>A (p.Glu853Lys)
|
rs771925044
|
0.00001
|
NM_001130438.3(SPTAN1):c.2614T>C (p.Trp872Arg)
|
rs899998696
|
0.00001
|
NM_001130438.3(SPTAN1):c.2617G>A (p.Glu873Lys)
|
rs776279771
|
0.00001
|
NM_001130438.3(SPTAN1):c.2644C>T (p.Arg882Cys)
|
rs149528201
|
0.00001
|
NM_001130438.3(SPTAN1):c.2647C>T (p.Arg883Trp)
|
rs770641858
|
0.00001
|
NM_001130438.3(SPTAN1):c.2838C>G (p.Ile946Met)
|
rs943636575
|
0.00001
|
NM_001130438.3(SPTAN1):c.2869C>T (p.Arg957Trp)
|
rs781689993
|
0.00001
|
NM_001130438.3(SPTAN1):c.3050C>T (p.Pro1017Leu)
|
rs370748662
|
0.00001
|
NM_001130438.3(SPTAN1):c.3083A>G (p.Gln1028Arg)
|
rs768500975
|
0.00001
|
NM_001130438.3(SPTAN1):c.3101A>G (p.Asn1034Ser)
|
rs773333330
|
0.00001
|
NM_001130438.3(SPTAN1):c.3133C>T (p.Arg1045Trp)
|
rs794727356
|
0.00001
|
NM_001130438.3(SPTAN1):c.3155A>G (p.Gln1052Arg)
|
rs1362381770
|
0.00001
|
NM_001130438.3(SPTAN1):c.3156-11C>G
|
rs781434997
|
0.00001
|
NM_001130438.3(SPTAN1):c.3160C>T (p.Arg1054Cys)
|
rs200872929
|
0.00001
|
NM_001130438.3(SPTAN1):c.3193C>T (p.Arg1065Cys)
|
rs587784436
|
0.00001
|
NM_001130438.3(SPTAN1):c.3194G>A (p.Arg1065His)
|
rs199561983
|
0.00001
|
NM_001130438.3(SPTAN1):c.3466G>C (p.Asp1156His)
|
rs1854608331
|
0.00001
|
NM_001130438.3(SPTAN1):c.3482G>T (p.Gly1161Val)
|
rs1060503492
|
0.00001
|
NM_001130438.3(SPTAN1):c.3519+5G>T
|
rs915019884
|
0.00001
|
NM_001130438.3(SPTAN1):c.3536T>A (p.Met1179Lys)
|
rs564155435
|
0.00001
|
NM_001130438.3(SPTAN1):c.353A>C (p.Glu118Ala)
|
rs1360328239
|
0.00001
|
NM_001130438.3(SPTAN1):c.3561G>T (p.Lys1187Asn)
|
rs950316530
|
0.00001
|
NM_001130438.3(SPTAN1):c.356C>T (p.Thr119Ile)
|
rs1850338993
|
0.00001
|
NM_001130438.3(SPTAN1):c.3587G>C (p.Arg1196Pro)
|
rs781124530
|
0.00001
|
NM_001130438.3(SPTAN1):c.3599A>G (p.His1200Arg)
|
rs745798632
|
0.00001
|
NM_001130438.3(SPTAN1):c.3604G>A (p.Val1202Met)
|
rs1312920158
|
0.00001
|
NM_001130438.3(SPTAN1):c.362G>T (p.Arg121Leu)
|
rs942861981
|
0.00001
|
NM_001130438.3(SPTAN1):c.3640C>T (p.Arg1214Cys)
|
rs756099218
|
0.00001
|
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys)
|
rs773140619
|
0.00001
|
NM_001130438.3(SPTAN1):c.3785G>A (p.Gly1262Glu)
|
rs901228960
|
0.00001
|
NM_001130438.3(SPTAN1):c.3788A>G (p.His1263Arg)
|
rs1322144803
|
0.00001
|
NM_001130438.3(SPTAN1):c.380T>A (p.Leu127Gln)
|
rs768538310
|
0.00001
|
NM_001130438.3(SPTAN1):c.3816A>G (p.Gln1272=)
|
rs745997127
|
0.00001
|
NM_001130438.3(SPTAN1):c.3856G>A (p.Gly1286Ser)
|
rs769081903
|
0.00001
|
NM_001130438.3(SPTAN1):c.385C>T (p.Arg129Cys)
|
rs964919191
|
0.00001
|
NM_001130438.3(SPTAN1):c.386G>A (p.Arg129His)
|
rs774397953
|
0.00001
|
NM_001130438.3(SPTAN1):c.3965G>A (p.Ser1322Asn)
|
rs756084170
|
0.00001
|
NM_001130438.3(SPTAN1):c.4027C>A (p.Arg1343Ser)
|
rs138827421
|
0.00001
|
NM_001130438.3(SPTAN1):c.4058C>G (p.Ser1353Cys)
|
rs1564278853
|
0.00001
|
NM_001130438.3(SPTAN1):c.4133T>C (p.Leu1378Pro)
|
rs776728710
|
0.00001
|
NM_001130438.3(SPTAN1):c.4154G>A (p.Arg1385Gln)
|
rs961027509
|
0.00001
|
NM_001130438.3(SPTAN1):c.4225G>A (p.Gly1409Arg)
|
rs746913959
|
0.00001
|
NM_001130438.3(SPTAN1):c.4576C>T (p.Arg1526Cys)
|
rs796053317
|
0.00001
|
NM_001130438.3(SPTAN1):c.4582G>A (p.Glu1528Lys)
|
rs780433514
|
0.00001
|
NM_001130438.3(SPTAN1):c.4672C>T (p.Arg1558Trp)
|
rs750465466
|
0.00001
|
NM_001130438.3(SPTAN1):c.4915G>A (p.Ala1639Thr)
|
rs371679323
|
0.00001
|
NM_001130438.3(SPTAN1):c.5039C>G (p.Ser1680Cys)
|
rs1251494639
|
0.00001
|
NM_001130438.3(SPTAN1):c.5159A>G (p.Lys1720Arg)
|
rs1451766321
|
0.00001
|
NM_001130438.3(SPTAN1):c.5224G>A (p.Asp1742Asn)
|
rs750748842
|
0.00001
|
NM_001130438.3(SPTAN1):c.5243A>G (p.Asn1748Ser)
|
rs1435643999
|
0.00001
|
NM_001130438.3(SPTAN1):c.5263A>C (p.Lys1755Gln)
|
rs1857087048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5276C>T (p.Ala1759Val)
|
rs368402085
|
0.00001
|
NM_001130438.3(SPTAN1):c.5281C>T (p.Arg1761Trp)
|
rs764247109
|
0.00001
|
NM_001130438.3(SPTAN1):c.5309G>A (p.Arg1770His)
|
rs374625039
|
0.00001
|
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
|
rs772382171
|
0.00001
|
NM_001130438.3(SPTAN1):c.5479G>A (p.Gly1827Ser)
|
rs1287628912
|
0.00001
|
NM_001130438.3(SPTAN1):c.5521A>G (p.Ile1841Val)
|
rs781083220
|
0.00001
|
NM_001130438.3(SPTAN1):c.5524G>A (p.Gly1842Arg)
|
rs770133448
|
0.00001
|
NM_001130438.3(SPTAN1):c.5546G>A (p.Arg1849Gln)
|
rs760298084
|
0.00001
|
NM_001130438.3(SPTAN1):c.5672T>C (p.Ile1891Thr)
|
rs961696023
|
0.00001
|
NM_001130438.3(SPTAN1):c.5675A>G (p.Asn1892Ser)
|
rs1425744048
|
0.00001
|
NM_001130438.3(SPTAN1):c.5791G>A (p.Val1931Met)
|
rs371687713
|
0.00001
|
NM_001130438.3(SPTAN1):c.586A>G (p.Thr196Ala)
|
rs940919276
|
0.00001
|
NM_001130438.3(SPTAN1):c.5904A>T (p.Lys1968Asn)
|
rs778709187
|
0.00001
|
NM_001130438.3(SPTAN1):c.5922G>C (p.Lys1974Asn)
|
rs777407223
|
0.00001
|
NM_001130438.3(SPTAN1):c.593T>C (p.Met198Thr)
|
rs924110992
|
0.00001
|
NM_001130438.3(SPTAN1):c.6014A>G (p.Lys2005Arg)
|
rs754276364
|
0.00001
|
NM_001130438.3(SPTAN1):c.6113T>C (p.Ile2038Thr)
|
rs1227328885
|
0.00001
|
NM_001130438.3(SPTAN1):c.6141G>T (p.Gln2047His)
|
rs1244126171
|
0.00001
|
NM_001130438.3(SPTAN1):c.6148G>A (p.Ala2050Thr)
|
rs762645157
|
0.00001
|
NM_001130438.3(SPTAN1):c.6160G>A (p.Val2054Ile)
|
rs771286283
|
0.00001
|
NM_001130438.3(SPTAN1):c.6178G>C (p.Glu2060Gln)
|
rs751423380
|
0.00001
|
NM_001130438.3(SPTAN1):c.6196C>T (p.Leu2066Phe)
|
rs1286936741
|
0.00001
|
NM_001130438.3(SPTAN1):c.6208T>G (p.Trp2070Gly)
|
rs766038302
|
0.00001
|
NM_001130438.3(SPTAN1):c.6213C>G (p.Ser2071Arg)
|
rs754910706
|
0.00001
|
NM_001130438.3(SPTAN1):c.6228C>G (p.Asn2076Lys)
|
rs752560514
|
0.00001
|
NM_001130438.3(SPTAN1):c.6274C>T (p.Arg2092Cys)
|
rs771651648
|
0.00001
|
NM_001130438.3(SPTAN1):c.6279+4A>T
|
rs1274186786
|
0.00001
|
NM_001130438.3(SPTAN1):c.6371G>A (p.Arg2124His)
|
rs763928650
|
0.00001
|
NM_001130438.3(SPTAN1):c.6425G>A (p.Arg2142His)
|
rs796053324
|
0.00001
|
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu)
|
rs756290749
|
0.00001
|
NM_001130438.3(SPTAN1):c.6728C>T (p.Ser2243Leu)
|
rs769859369
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001130438.3(SPTAN1):c.6959+5C>G
|
rs1057523269
|
0.00001
|
NM_001130438.3(SPTAN1):c.7088A>G (p.Asp2363Gly)
|
rs1256953654
|
0.00001
|
NM_001130438.3(SPTAN1):c.7114C>T (p.Pro2372Ser)
|
rs1859963796
|
0.00001
|
NM_001130438.3(SPTAN1):c.713A>G (p.Gln238Arg)
|
rs758342554
|
0.00001
|
NM_001130438.3(SPTAN1):c.7145C>T (p.Thr2382Met)
|
rs796053331
|
0.00001
|
NM_001130438.3(SPTAN1):c.7148T>C (p.Val2383Ala)
|
rs754183499
|
0.00001
|
NM_001130438.3(SPTAN1):c.715C>T (p.Arg239Trp)
|
rs763806998
|
0.00001
|
NM_001130438.3(SPTAN1):c.7207C>T (p.Arg2403Cys)
|
rs1285764786
|
0.00001
|
NM_001130438.3(SPTAN1):c.7235A>T (p.Glu2412Val)
|
rs768195496
|
0.00001
|
NM_001130438.3(SPTAN1):c.7256G>A (p.Arg2419Gln)
|
rs772995493
|
0.00001
|
NM_001130438.3(SPTAN1):c.7285G>A (p.Val2429Met)
|
rs1344858192
|
0.00001
|
NM_001130438.3(SPTAN1):c.7339G>A (p.Val2447Ile)
|
rs764312862
|
0.00001
|
NM_001130438.3(SPTAN1):c.7343C>T (p.Ser2448Phe)
|
rs1248425869
|
0.00001
|
NM_001130438.3(SPTAN1):c.7354C>A (p.Pro2452Thr)
|
rs767620941
|
0.00001
|
NM_001130438.3(SPTAN1):c.7375C>T (p.Arg2459Cys)
|
rs1160694512
|
0.00001
|
NM_001130438.3(SPTAN1):c.7376G>A (p.Arg2459His)
|
rs751323903
|
0.00001
|
NM_001130438.3(SPTAN1):c.7414C>T (p.Arg2472Cys)
|
rs759975874
|
0.00001
|
NM_001130438.3(SPTAN1):c.7426G>A (p.Val2476Met)
|
rs199569281
|
0.00001
|
NM_001130438.3(SPTAN1):c.775C>T (p.Arg259Cys)
|
rs151150353
|
0.00001
|
NM_001130438.3(SPTAN1):c.776G>A (p.Arg259His)
|
rs772367229
|
0.00001
|
NM_001130438.3(SPTAN1):c.785+5C>T
|
rs776310053
|
0.00001
|
NM_001130438.3(SPTAN1):c.83G>A (p.Arg28His)
|
rs747510615
|
0.00001
|
NM_001130438.3(SPTAN1):c.958C>T (p.Arg320Cys)
|
rs794727910
|
0.00001
|
NM_001130438.3(SPTAN1):c.988A>G (p.Thr330Ala)
|
rs924198534
|
0.00001
|
NC_000009.11:g.(?_131353736)_(131356672_?)dup
|
|
|
NC_000009.11:g.(?_131362339)_(131362414_?)del
|
|
|
NM_001130438.3(SPTAN1):c.1000G>A (p.Val334Met)
|
|
|
NM_001130438.3(SPTAN1):c.1035G>T (p.Gln345His)
|
rs2131015592
|
|
NM_001130438.3(SPTAN1):c.1039C>G (p.Arg347Gly)
|
rs754066930
|
|
NM_001130438.3(SPTAN1):c.1040G>T (p.Arg347Leu)
|
|
|
NM_001130438.3(SPTAN1):c.104T>G (p.Leu35Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1063G>A (p.Ala355Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1063G>T (p.Ala355Ser)
|
rs988012905
|
|
NM_001130438.3(SPTAN1):c.1064C>T (p.Ala355Val)
|
rs1851436689
|
|
NM_001130438.3(SPTAN1):c.1076A>G (p.Asp359Gly)
|
rs748881611
|
|
NM_001130438.3(SPTAN1):c.1085+6A>C
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1085+6A>G
|
rs1060503488
|
|
NM_001130438.3(SPTAN1):c.1086G>A (p.Arg362=)
|
|
|
NM_001130438.3(SPTAN1):c.1087C>G (p.Leu363Val)
|
|
|
NM_001130438.3(SPTAN1):c.1093C>G (p.Arg365Gly)
|
rs372157740
|
|
NM_001130438.3(SPTAN1):c.1094G>A (p.Arg365His)
|
|
|
NM_001130438.3(SPTAN1):c.1097T>C (p.Phe366Ser)
|
rs942915357
|
|
NM_001130438.3(SPTAN1):c.1099C>T (p.Leu367Phe)
|
rs1851517179
|
|
NM_001130438.3(SPTAN1):c.109C>T (p.Arg37Cys)
|
rs751473819
|
|
NM_001130438.3(SPTAN1):c.1105G>C (p.Asp369His)
|
|
|
NM_001130438.3(SPTAN1):c.110G>A (p.Arg37His)
|
rs1325381089
|
|
NM_001130438.3(SPTAN1):c.1121C>A (p.Thr374Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1142A>G (p.Lys381Arg)
|
rs2131029556
|
|
NM_001130438.3(SPTAN1):c.1172G>A (p.Ser391Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1180G>T (p.Ala394Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1189G>A (p.Glu397Lys)
|
rs1589192271
|
|
NM_001130438.3(SPTAN1):c.1217A>G (p.His406Arg)
|
|
|
NM_001130438.3(SPTAN1):c.1221+11C>G
|
rs113357847
|
|
NM_001130438.3(SPTAN1):c.1256C>T (p.Ser419Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1298A>G (p.Tyr433Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1300G>T (p.Ala434Ser)
|
|
|
NM_001130438.3(SPTAN1):c.130T>C (p.Tyr44His)
|
|
|
NM_001130438.3(SPTAN1):c.1323+3A>T
|
|
|
NM_001130438.3(SPTAN1):c.1328C>G (p.Thr443Ser)
|
|
|
NM_001130438.3(SPTAN1):c.1330G>C (p.Val444Leu)
|
rs77358650
|
|
NM_001130438.3(SPTAN1):c.1349C>T (p.Ala450Val)
|
|
|
NM_001130438.3(SPTAN1):c.1352C>T (p.Ala451Val)
|
rs149336930
|
|
NM_001130438.3(SPTAN1):c.1378A>G (p.Arg460Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1384C>A (p.Gln462Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1390G>A (p.Glu464Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1411C>G (p.Leu471Val)
|
|
|
NM_001130438.3(SPTAN1):c.1421G>A (p.Arg474Gln)
|
rs2131089805
|
|
NM_001130438.3(SPTAN1):c.1440C>T (p.Asp480=)
|
|
|
NM_001130438.3(SPTAN1):c.1451G>A (p.Ser484Asn)
|
rs1851879535
|
|
NM_001130438.3(SPTAN1):c.1461+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.1461+4A>G
|
rs1851880743
|
|
NM_001130438.3(SPTAN1):c.1462-11C>T
|
|
|
NM_001130438.3(SPTAN1):c.1462-13T>G
|
|
|
NM_001130438.3(SPTAN1):c.1463C>T (p.Ala488Val)
|
rs1851980146
|
|
NM_001130438.3(SPTAN1):c.1473G>C (p.Leu491Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1492T>C (p.Ser498Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1510G>A (p.Ala504Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1519AAG[1] (p.Lys508del)
|
rs2131108444
|
|
NM_001130438.3(SPTAN1):c.1524G>C (p.Lys508Asn)
|
rs2131108546
|
|
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys)
|
rs769320860
|
|
NM_001130438.3(SPTAN1):c.1552G>A (p.Ala518Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1572+5G>C
|
rs1851989537
|
|
NM_001130438.3(SPTAN1):c.1589C>G (p.Ala530Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1637C>T (p.Thr546Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1639C>T (p.Arg547Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1640G>A (p.Arg547His)
|
rs1277192295
|
|
NM_001130438.3(SPTAN1):c.1649C>T (p.Ala550Val)
|
rs1297146654
|
|
NM_001130438.3(SPTAN1):c.1650+8del
|
|
|
NM_001130438.3(SPTAN1):c.1650T>C (p.Ala550=)
|
|
|
NM_001130438.3(SPTAN1):c.1651C>T (p.Leu551=)
|
|
|
NM_001130438.3(SPTAN1):c.1655T>G (p.Leu552Trp)
|
rs1852093848
|
|
NM_001130438.3(SPTAN1):c.1656G>C (p.Leu552Phe)
|
|
|
NM_001130438.3(SPTAN1):c.1661G>A (p.Arg554His)
|
|
|
NM_001130438.3(SPTAN1):c.1663C>T (p.Arg555Cys)
|
|
|
NM_001130438.3(SPTAN1):c.1678G>A (p.Glu560Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1694G>A (p.Arg565His)
|
|
|
NM_001130438.3(SPTAN1):c.1711G>A (p.Asp571Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1718T>G (p.Phe573Cys)
|
rs1852105472
|
|
NM_001130438.3(SPTAN1):c.1719C>A (p.Phe573Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1741G>A (p.Asp581Asn)
|
|
|
NM_001130438.3(SPTAN1):c.1765G>C (p.Val589Leu)
|
|
|
NM_001130438.3(SPTAN1):c.1779G>A (p.Met593Ile)
|
|
|
NM_001130438.3(SPTAN1):c.1798G>A (p.Ala600Thr)
|
rs2131131343
|
|
NM_001130438.3(SPTAN1):c.1807-3C>T
|
rs571532593
|
|
NM_001130438.3(SPTAN1):c.1856C>A (p.Ala619Asp)
|
rs772608327
|
|
NM_001130438.3(SPTAN1):c.1864T>C (p.Ser622Pro)
|
|
|
NM_001130438.3(SPTAN1):c.1868C>G (p.Ala623Gly)
|
|
|
NM_001130438.3(SPTAN1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_001130438.3(SPTAN1):c.1895A>G (p.Glu632Gly)
|
|
|
NM_001130438.3(SPTAN1):c.190C>T (p.Leu64Phe)
|
rs1589149870
|
|
NM_001130438.3(SPTAN1):c.1927C>T (p.His643Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.1945G>A (p.Val649Met)
|
|
|
NM_001130438.3(SPTAN1):c.1948G>A (p.Ala650Thr)
|
|
|
NM_001130438.3(SPTAN1):c.1972A>G (p.Ser658Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2028A>C (p.Glu676Asp)
|
rs2131150901
|
|
NM_001130438.3(SPTAN1):c.2053C>T (p.Arg685Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2054G>A (p.Arg685His)
|
|
|
NM_001130438.3(SPTAN1):c.2065G>A (p.Asp689Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2069T>C (p.Ile690Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2087_2089del (p.Glu696del)
|
rs2131151927
|
|
NM_001130438.3(SPTAN1):c.2089G>A (p.Val697Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2114A>G (p.Asp705Gly)
|
rs2131152396
|
|
NM_001130438.3(SPTAN1):c.2132C>T (p.Thr711Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2135A>G (p.Asn712Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2154G>T (p.Lys718Asn)
|
|
|
NM_001130438.3(SPTAN1):c.2193+5T>C
|
|
|
NM_001130438.3(SPTAN1):c.2193+6G>A
|
rs751573290
|
|
NM_001130438.3(SPTAN1):c.2194G>A (p.Asp732Asn)
|
rs2131160403
|
|
NM_001130438.3(SPTAN1):c.2197C>A (p.Arg733=)
|
|
|
NM_001130438.3(SPTAN1):c.2204A>C (p.Asp735Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2204A>G (p.Asp735Gly)
|
|
|
NM_001130438.3(SPTAN1):c.2206G>A (p.Gly736Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2238T>A (p.Asp746Glu)
|
|
|
NM_001130438.3(SPTAN1):c.2263A>G (p.Ile755Val)
|
rs1852306066
|
|
NM_001130438.3(SPTAN1):c.227C>T (p.Thr76Ile)
|
rs1850104282
|
|
NM_001130438.3(SPTAN1):c.2281G>C (p.Ala761Pro)
|
|
|
NM_001130438.3(SPTAN1):c.2282C>T (p.Ala761Val)
|
rs770359554
|
|
NM_001130438.3(SPTAN1):c.2294G>A (p.Arg765His)
|
|
|
NM_001130438.3(SPTAN1):c.2297A>G (p.Tyr766Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2302G>T (p.Ala768Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2309A>G (p.Lys770Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2330A>G (p.Lys777Arg)
|
rs2131163322
|
|
NM_001130438.3(SPTAN1):c.2341G>A (p.Ala781Thr)
|
|
|
NM_001130438.3(SPTAN1):c.2348C>A (p.Ser783Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2353C>T (p.Arg785Trp)
|
rs1253697977
|
|
NM_001130438.3(SPTAN1):c.2357T>C (p.Leu786Ser)
|
|
|
NM_001130438.3(SPTAN1):c.238-8G>T
|
|
|
NM_001130438.3(SPTAN1):c.2402G>A (p.Arg801Gln)
|
rs774283264
|
|
NM_001130438.3(SPTAN1):c.2412G>C (p.Glu804Asp)
|
rs767815914
|
|
NM_001130438.3(SPTAN1):c.2428A>G (p.Thr810Ala)
|
|
|
NM_001130438.3(SPTAN1):c.2432A>G (p.Asn811Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2437+18A>T
|
|
|
NM_001130438.3(SPTAN1):c.2437+5G>A
|
|
|
NM_001130438.3(SPTAN1):c.2483C>T (p.Ala828Val)
|
|
|
NM_001130438.3(SPTAN1):c.2515C>T (p.Arg839Cys)
|
rs999623213
|
|
NM_001130438.3(SPTAN1):c.2516G>A (p.Arg839His)
|
rs779633188
|
|
NM_001130438.3(SPTAN1):c.2521A>G (p.Lys841Glu)
|
rs2131170781
|
|
NM_001130438.3(SPTAN1):c.2534A>G (p.Gln845Arg)
|
rs1564229501
|
|
NM_001130438.3(SPTAN1):c.2548A>G (p.Met850Val)
|
rs371776794
|
|
NM_001130438.3(SPTAN1):c.2563C>T (p.His855Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.2581G>A (p.Val861Met)
|
|
|
NM_001130438.3(SPTAN1):c.2591A>G (p.Lys864Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2606A>G (p.Asn869Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2619G>T (p.Glu873Asp)
|
rs1288231452
|
|
NM_001130438.3(SPTAN1):c.2630C>T (p.Ala877Val)
|
|
|
NM_001130438.3(SPTAN1):c.2648G>A (p.Arg883Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2666C>G (p.Ser889Cys)
|
rs886043660
|
|
NM_001130438.3(SPTAN1):c.2666_2686dup (p.Tyr895_Phe896insSerLeuGlnAlaGlnGlnTyr)
|
|
|
NM_001130438.3(SPTAN1):c.2674_2675delinsTT (p.Ala892Phe)
|
|
|
NM_001130438.3(SPTAN1):c.2678A>G (p.Gln893Arg)
|
|
|
NM_001130438.3(SPTAN1):c.2679G>C (p.Gln893His)
|
|
|
NM_001130438.3(SPTAN1):c.2719C>T (p.Arg907Trp)
|
rs886063502
|
|
NM_001130438.3(SPTAN1):c.2720G>A (p.Arg907Gln)
|
|
|
NM_001130438.3(SPTAN1):c.2746A>G (p.Thr916Ala)
|
rs1064797353
|
|
NM_001130438.3(SPTAN1):c.2764G>A (p.Glu922Lys)
|
rs2131196507
|
|
NM_001130438.3(SPTAN1):c.2778+10C>T
|
|
|
NM_001130438.3(SPTAN1):c.2778+5C>G
|
rs2131196835
|
|
NM_001130438.3(SPTAN1):c.2797G>A (p.Glu933Lys)
|
|
|
NM_001130438.3(SPTAN1):c.2806A>G (p.Met936Val)
|
|
|
NM_001130438.3(SPTAN1):c.2827G>A (p.Gly943Ser)
|
|
|
NM_001130438.3(SPTAN1):c.2861A>C (p.Gln954Pro)
|
rs796053301
|
|
NM_001130438.3(SPTAN1):c.2902G>C (p.Gly968Arg)
|
rs2131266449
|
|
NM_001130438.3(SPTAN1):c.2914G>A (p.Val972Ile)
|
|
|
NM_001130438.3(SPTAN1):c.2926T>G (p.Tyr976Asp)
|
|
|
NM_001130438.3(SPTAN1):c.2933A>G (p.Tyr978Cys)
|
|
|
NM_001130438.3(SPTAN1):c.2937G>C (p.Gln979His)
|
rs2131267130
|
|
NM_001130438.3(SPTAN1):c.2951G>A (p.Arg984Gln)
|
rs1057521149
|
|
NM_001130438.3(SPTAN1):c.298G>A (p.Val100Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3006+6G>A
|
rs2131267970
|
|
NM_001130438.3(SPTAN1):c.3006+7C>T
|
|
|
NM_001130438.3(SPTAN1):c.3030C>A (p.Asn1010Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3034C>G (p.Arg1012Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3056C>T (p.Ala1019Val)
|
rs1349058117
|
|
NM_001130438.3(SPTAN1):c.305T>G (p.Leu102Arg)
|
rs150793549
|
|
NM_001130438.3(SPTAN1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3077C>G (p.Pro1026Arg)
|
rs1853527559
|
|
NM_001130438.3(SPTAN1):c.3079G>A (p.Ala1027Thr)
|
rs779759134
|
|
NM_001130438.3(SPTAN1):c.3097G>A (p.Glu1033Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3100A>G (p.Asn1034Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3102T>A (p.Asn1034Lys)
|
rs760755333
|
|
NM_001130438.3(SPTAN1):c.3103C>A (p.Leu1035Ile)
|
|
|
NM_001130438.3(SPTAN1):c.3103C>T (p.Leu1035Phe)
|
rs1853533209
|
|
NM_001130438.3(SPTAN1):c.3116A>G (p.Gln1039Arg)
|
rs1853534747
|
|
NM_001130438.3(SPTAN1):c.3121A>G (p.Ser1041Gly)
|
rs2131319338
|
|
NM_001130438.3(SPTAN1):c.3131T>C (p.Leu1044Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3139G>A (p.Glu1047Lys)
|
rs1853536448
|
|
NM_001130438.3(SPTAN1):c.3144G>T (p.Gln1048His)
|
|
|
NM_001130438.3(SPTAN1):c.3145A>G (p.Ile1049Val)
|
|
|
NM_001130438.3(SPTAN1):c.3146T>C (p.Ile1049Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3155+6G>A
|
|
|
NM_001130438.3(SPTAN1):c.3156-6G>T
|
|
|
NM_001130438.3(SPTAN1):c.3161G>C (p.Arg1054Pro)
|
|
|
NM_001130438.3(SPTAN1):c.3167C>T (p.Thr1056Ile)
|
rs1428641675
|
|
NM_001130438.3(SPTAN1):c.3182G>C (p.Ser1061Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3196A>G (p.Met1066Val)
|
rs764844675
|
|
NM_001130438.3(SPTAN1):c.3202C>G (p.Gln1068Glu)
|
rs2131342579
|
|
NM_001130438.3(SPTAN1):c.3213A>C (p.Glu1071Asp)
|
|
|
NM_001130438.3(SPTAN1):c.322C>G (p.Leu108Val)
|
rs2130860508
|
|
NM_001130438.3(SPTAN1):c.3247C>T (p.Arg1083Cys)
|
rs750290385
|
|
NM_001130438.3(SPTAN1):c.3253G>A (p.Gly1085Ser)
|
|
|
NM_001130438.3(SPTAN1):c.3292C>G (p.Arg1098Gly)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys)
|
rs1853920585
|
|
NM_001130438.3(SPTAN1):c.3293G>A (p.Arg1098His)
|
rs1853921006
|
|
NM_001130438.3(SPTAN1):c.3304G>C (p.Glu1102Gln)
|
|
|
NM_001130438.3(SPTAN1):c.3310C>A (p.Gln1104Lys)
|
|
|
NM_001130438.3(SPTAN1):c.3316T>C (p.Trp1106Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3318G>C (p.Trp1106Cys)
|
|
|
NM_001130438.3(SPTAN1):c.3365A>G (p.Asp1122Gly)
|
|
|
NM_001130438.3(SPTAN1):c.3415-11T>C
|
|
|
NM_001130438.3(SPTAN1):c.3415-17T>C
|
|
|
NM_001130438.3(SPTAN1):c.3425C>T (p.Ala1142Val)
|
rs1854605015
|
|
NM_001130438.3(SPTAN1):c.3437G>A (p.Arg1146Gln)
|
rs1854606025
|
|
NM_001130438.3(SPTAN1):c.3444G>T (p.Lys1148Asn)
|
|
|
NM_001130438.3(SPTAN1):c.3472G>A (p.Glu1158Lys)
|
rs1379161622
|
|
NM_001130438.3(SPTAN1):c.3491C>T (p.Ala1164Val)
|
|
|
NM_001130438.3(SPTAN1):c.3523G>A (p.Val1175Met)
|
|
|
NM_001130438.3(SPTAN1):c.3523G>C (p.Val1175Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3530G>A (p.Gly1177Asp)
|
|
|
NM_001130438.3(SPTAN1):c.3530G>T (p.Gly1177Val)
|
|
|
NM_001130438.3(SPTAN1):c.3538C>T (p.Pro1180Ser)
|
rs1554754141
|
|
NM_001130438.3(SPTAN1):c.3542G>T (p.Arg1181Met)
|
|
|
NM_001130438.3(SPTAN1):c.3562A>G (p.Thr1188Ala)
|
rs2131475357
|
|
NM_001130438.3(SPTAN1):c.3565G>A (p.Ala1189Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3566C>A (p.Ala1189Asp)
|
rs1004013873
|
|
NM_001130438.3(SPTAN1):c.3568T>G (p.Ser1190Ala)
|
rs2131475553
|
|
NM_001130438.3(SPTAN1):c.3571C>T (p.Pro1191Ser)
|
|
|
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+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.3579+5_3579+8del
|
|
|
NM_001130438.3(SPTAN1):c.3579G>A (p.Lys1193=)
|
|
|
NM_001130438.3(SPTAN1):c.3584C>T (p.Ala1195Val)
|
|
|
NM_001130438.3(SPTAN1):c.3587G>A (p.Arg1196His)
|
|
|
NM_001130438.3(SPTAN1):c.358A>G (p.Ile120Val)
|
rs1244278345
|
|
NM_001130438.3(SPTAN1):c.361C>T (p.Arg121Trp)
|
rs1376670407
|
|
NM_001130438.3(SPTAN1):c.3623T>C (p.Ile1208Thr)
|
|
|
NM_001130438.3(SPTAN1):c.3627+20_3627+21delinsAG
|
|
|
NM_001130438.3(SPTAN1):c.363+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.363G>A (p.Arg121=)
|
rs1312160720
|
|
NM_001130438.3(SPTAN1):c.363_363+18dup
|
|
|
NM_001130438.3(SPTAN1):c.3641_3658dup (p.Gln1219_Gln1220insArgTrpArgSerLeuGln)
|
|
|
NM_001130438.3(SPTAN1):c.3647G>T (p.Arg1216Leu)
|
|
|
NM_001130438.3(SPTAN1):c.3659A>G (p.Gln1220Arg)
|
|
|
NM_001130438.3(SPTAN1):c.3664G>T (p.Ala1222Ser)
|
rs796053306
|
|
NM_001130438.3(SPTAN1):c.3719+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.373A>G (p.Met125Val)
|
rs1564206483
|
|
NM_001130438.3(SPTAN1):c.373A>T (p.Met125Leu)
|
|
|
NM_001130438.3(SPTAN1):c.374T>C (p.Met125Thr)
|
rs2130964756
|
|
NM_001130438.3(SPTAN1):c.3756G>C (p.Lys1252Asn)
|
rs1855650696
|
|
NM_001130438.3(SPTAN1):c.3776A>G (p.Asp1259Gly)
|
rs1229172232
|
|
NM_001130438.3(SPTAN1):c.3781T>C (p.Tyr1261His)
|
|
|
NM_001130438.3(SPTAN1):c.3864+6A>G
|
|
|
NM_001130438.3(SPTAN1):c.3872C>T (p.Ser1291Phe)
|
|
|
NM_001130438.3(SPTAN1):c.3877G>T (p.Gly1293Cys)
|
|
|
NM_001130438.3(SPTAN1):c.390G>T (p.Gln130His)
|
rs975951020
|
|
NM_001130438.3(SPTAN1):c.3956A>G (p.Gln1319Arg)
|
rs1412090989
|
|
NM_001130438.3(SPTAN1):c.3980G>A (p.Arg1327His)
|
|
|
NM_001130438.3(SPTAN1):c.3988C>G (p.Gln1330Glu)
|
|
|
NM_001130438.3(SPTAN1):c.3991C>A (p.Arg1331Ser)
|
rs1407200590
|
|
NM_001130438.3(SPTAN1):c.3992G>A (p.Arg1331His)
|
|
|
NM_001130438.3(SPTAN1):c.3998C>G (p.Ala1333Gly)
|
rs2131576989
|
|
NM_001130438.3(SPTAN1):c.4009G>A (p.Asp1337Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4055T>C (p.Met1352Thr)
|
|
|
NM_001130438.3(SPTAN1):c.405G>C (p.Leu135Phe)
|
|
|
NM_001130438.3(SPTAN1):c.4067A>G (p.Asn1356Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4079G>T (p.Gly1360Val)
|
rs2131613100
|
|
NM_001130438.3(SPTAN1):c.4094A>G (p.Asp1365Gly)
|
rs1175320305
|
|
NM_001130438.3(SPTAN1):c.4115C>T (p.Thr1372Ile)
|
rs2131613513
|
|
NM_001130438.3(SPTAN1):c.4117G>A (p.Gly1373Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4146+3G>A
|
rs990426186
|
|
NM_001130438.3(SPTAN1):c.4146+4G>C
|
rs1856067067
|
|
NM_001130438.3(SPTAN1):c.4148A>G (p.Glu1383Gly)
|
rs1019310261
|
|
NM_001130438.3(SPTAN1):c.4153C>T (p.Arg1385Trp)
|
rs770189298
|
|
NM_001130438.3(SPTAN1):c.4164C>G (p.Ile1388Met)
|
rs759713935
|
|
NM_001130438.3(SPTAN1):c.4184T>C (p.Phe1395Ser)
|
rs1239390443
|
|
NM_001130438.3(SPTAN1):c.4201T>A (p.Phe1401Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4205G>A (p.Gly1402Glu)
|
|
|
NM_001130438.3(SPTAN1):c.4219G>T (p.Ala1407Ser)
|
rs2131616745
|
|
NM_001130438.3(SPTAN1):c.4223A>G (p.His1408Arg)
|
rs2131616851
|
|
NM_001130438.3(SPTAN1):c.4226G>A (p.Gly1409Glu)
|
|
|
NM_001130438.3(SPTAN1):c.4229A>G (p.His1410Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4241C>T (p.Pro1414Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4248C>G (p.Ile1416Met)
|
|
|
NM_001130438.3(SPTAN1):c.4249A>G (p.Lys1417Glu)
|
rs2131617226
|
|
NM_001130438.3(SPTAN1):c.4252C>A (p.Gln1418Lys)
|
rs1156309213
|
|
NM_001130438.3(SPTAN1):c.4285G>A (p.Asp1429Asn)
|
|
|
NM_001130438.3(SPTAN1):c.428T>A (p.Ile143Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4296G>T (p.Lys1432Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4297G>C (p.Ala1433Pro)
|
rs1444736163
|
|
NM_001130438.3(SPTAN1):c.4330T>C (p.Cys1444Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4331G>A (p.Cys1444Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.4344+5G>C
|
|
|
NM_001130438.3(SPTAN1):c.4344+6T>C
|
rs2131618659
|
|
NM_001130438.3(SPTAN1):c.4345-3T>C
|
|
|
NM_001130438.3(SPTAN1):c.4354C>T (p.Arg1452Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4360T>G (p.Cys1454Gly)
|
rs1220414198
|
|
NM_001130438.3(SPTAN1):c.4364A>G (p.Glu1455Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4364A>T (p.Glu1455Val)
|
|
|
NM_001130438.3(SPTAN1):c.4378T>C (p.Trp1460Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4388C>A (p.Ala1463Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4390C>T (p.Arg1464Trp)
|
rs1489830382
|
|
NM_001130438.3(SPTAN1):c.4391G>T (p.Arg1464Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4397C>A (p.Ala1466Asp)
|
|
|
NM_001130438.3(SPTAN1):c.4411G>A (p.Glu1471Lys)
|
|
|
NM_001130438.3(SPTAN1):c.4414_4415delinsAC (p.Asp1472Thr)
|
|
|
NM_001130438.3(SPTAN1):c.442G>A (p.Ala148Thr)
|
rs1190475290
|
|
NM_001130438.3(SPTAN1):c.4432G>A (p.Asp1478Asn)
|
rs2131620796
|
|
NM_001130438.3(SPTAN1):c.4435A>G (p.Ser1479Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4438G>A (p.Val1480Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4460A>G (p.His1487Arg)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4478C>T (p.Ala1493Val)
|
rs2131621179
|
|
NM_001130438.3(SPTAN1):c.447G>T (p.Gln149His)
|
|
|
NM_001130438.3(SPTAN1):c.4486G>A (p.Val1496Ile)
|
|
|
NM_001130438.3(SPTAN1):c.4490A>C (p.Gln1497Pro)
|
rs1856150338
|
|
NM_001130438.3(SPTAN1):c.4514A>T (p.Gln1505Leu)
|
rs2131630842
|
|
NM_001130438.3(SPTAN1):c.451T>A (p.Leu151Met)
|
rs2130966073
|
|
NM_001130438.3(SPTAN1):c.4526A>G (p.Asp1509Gly)
|
|
|
NM_001130438.3(SPTAN1):c.4535T>A (p.Ile1512Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4537G>A (p.Ala1513Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4547A>C (p.His1516Pro)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4547A>G (p.His1516Arg)
|
rs1060503491
|
|
NM_001130438.3(SPTAN1):c.4556A>G (p.Lys1519Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4571G>A (p.Ser1524Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4573C>T (p.Arg1525Trp)
|
|
|
NM_001130438.3(SPTAN1):c.4585G>C (p.Val1529Leu)
|
rs2131632285
|
|
NM_001130438.3(SPTAN1):c.4596-17T>A
|
|
|
NM_001130438.3(SPTAN1):c.4615C>G (p.Gln1539Glu)
|
rs2131635386
|
|
NM_001130438.3(SPTAN1):c.4622T>C (p.Ile1541Thr)
|
|
|
NM_001130438.3(SPTAN1):c.4655C>G (p.Thr1552Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4678G>A (p.Val1560Met)
|
rs1856292384
|
|
NM_001130438.3(SPTAN1):c.4700T>G (p.Ile1567Ser)
|
|
|
NM_001130438.3(SPTAN1):c.470A>G (p.Glu157Gly)
|
|
|
NM_001130438.3(SPTAN1):c.472T>C (p.Cys158Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4733C>T (p.Ser1578Leu)
|
rs756887707
|
|
NM_001130438.3(SPTAN1):c.4747A>C (p.Thr1583Pro)
|
rs1856299526
|
|
NM_001130438.3(SPTAN1):c.4814A>G (p.His1605Arg)
|
|
|
NM_001130438.3(SPTAN1):c.4829G>A (p.Arg1610Gln)
|
rs1564286745
|
|
NM_001130438.3(SPTAN1):c.482T>C (p.Val161Ala)
|
|
|
NM_001130438.3(SPTAN1):c.4834C>T (p.Arg1612Cys)
|
|
|
NM_001130438.3(SPTAN1):c.4835G>A (p.Arg1612His)
|
|
|
NM_001130438.3(SPTAN1):c.4846G>A (p.Asp1616Asn)
|
|
|
NM_001130438.3(SPTAN1):c.4849A>G (p.Met1617Val)
|
|
|
NM_001130438.3(SPTAN1):c.4885G>A (p.Gly1629Ser)
|
|
|
NM_001130438.3(SPTAN1):c.4887C>T (p.Gly1629=)
|
rs1057522726
|
|
NM_001130438.3(SPTAN1):c.4907C>T (p.Ala1636Val)
|
|
|
NM_001130438.3(SPTAN1):c.4910G>T (p.Arg1637Leu)
|
rs777707442
|
|
NM_001130438.3(SPTAN1):c.4918G>C (p.Ala1640Pro)
|
rs1554759970
|
|
NM_001130438.3(SPTAN1):c.4941C>A (p.Phe1647Leu)
|
|
|
NM_001130438.3(SPTAN1):c.4958C>A (p.Ala1653Glu)
|
rs374723711
|
|
NM_001130438.3(SPTAN1):c.4976T>C (p.Leu1659Pro)
|
rs1589327320
|
|
NM_001130438.3(SPTAN1):c.5038T>G (p.Ser1680Ala)
|
rs1856647848
|
|
NM_001130438.3(SPTAN1):c.5043+4A>C
|
rs745921302
|
|
NM_001130438.3(SPTAN1):c.5043+5C>A
|
|
|
NM_001130438.3(SPTAN1):c.505-4A>G
|
rs377129746
|
|
NM_001130438.3(SPTAN1):c.5090C>T (p.Ser1697Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5114A>C (p.His1705Pro)
|
|
|
NM_001130438.3(SPTAN1):c.5128G>A (p.Ala1710Thr)
|
|
|
NM_001130438.3(SPTAN1):c.512T>C (p.Ile171Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5135T>C (p.Ile1712Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5140G>A (p.Ala1714Thr)
|
rs1856789445
|
|
NM_001130438.3(SPTAN1):c.5140G>T (p.Ala1714Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5158A>G (p.Lys1720Glu)
|
rs2131743765
|
|
NM_001130438.3(SPTAN1):c.5163C>G (p.Asp1721Glu)
|
|
|
NM_001130438.3(SPTAN1):c.5190G>T (p.Met1730Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5195G>T (p.Ser1732Ile)
|
rs751640888
|
|
NM_001130438.3(SPTAN1):c.5206G>A (p.Asp1736Asn)
|
rs148294757
|
|
NM_001130438.3(SPTAN1):c.5210C>T (p.Thr1737Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5213C>G (p.Ser1738Cys)
|
rs2131744493
|
|
NM_001130438.3(SPTAN1):c.5222A>G (p.Lys1741Arg)
|
rs1857080869
|
|
NM_001130438.3(SPTAN1):c.5234A>G (p.Asp1745Gly)
|
|
|
NM_001130438.3(SPTAN1):c.5249G>A (p.Arg1750His)
|
|
|
NM_001130438.3(SPTAN1):c.5264A>G (p.Lys1755Arg)
|
rs1857087403
|
|
NM_001130438.3(SPTAN1):c.5273C>T (p.Ala1758Val)
|
|
|
NM_001130438.3(SPTAN1):c.5282G>T (p.Arg1761Leu)
|
rs755046868
|
|
NM_001130438.3(SPTAN1):c.5285G>A (p.Arg1762Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5293C>A (p.Leu1765Met)
|
rs2131745997
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.5327G>A (p.Arg1776Gln)
|
rs754299854
|
|
NM_001130438.3(SPTAN1):c.5333T>C (p.Met1778Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5334G>T (p.Met1778Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5341G>A (p.Glu1781Lys)
|
rs368949860
|
|
NM_001130438.3(SPTAN1):c.535C>A (p.Gln179Lys)
|
rs1589179268
|
|
NM_001130438.3(SPTAN1):c.5410G>A (p.Val1804Met)
|
|
|
NM_001130438.3(SPTAN1):c.5431C>T (p.His1811Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.5437C>T (p.Arg1813Trp)
|
rs3750333
|
|
NM_001130438.3(SPTAN1):c.5453T>A (p.Leu1818Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5470G>A (p.Ala1824Thr)
|
rs796053320
|
|
NM_001130438.3(SPTAN1):c.5473A>G (p.Ile1825Val)
|
|
|
NM_001130438.3(SPTAN1):c.5479-3C>T
|
rs1464939078
|
|
NM_001130438.3(SPTAN1):c.5482G>A (p.Val1828Ile)
|
|
|
NM_001130438.3(SPTAN1):c.5483T>C (p.Val1828Ala)
|
|
|
NM_001130438.3(SPTAN1):c.548A>G (p.His183Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5500A>G (p.Lys1834Glu)
|
rs2131798457
|
|
NM_001130438.3(SPTAN1):c.5509G>A (p.Asp1837Asn)
|
|
|
NM_001130438.3(SPTAN1):c.5527A>G (p.Lys1843Glu)
|
rs2131799096
|
|
NM_001130438.3(SPTAN1):c.5530G>C (p.Glu1844Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5560G>T (p.Val1854Leu)
|
rs752677999
|
|
NM_001130438.3(SPTAN1):c.5576A>C (p.Glu1859Ala)
|
|
|
NM_001130438.3(SPTAN1):c.5576A>G (p.Glu1859Gly)
|
rs2131800107
|
|
NM_001130438.3(SPTAN1):c.5594C>A (p.Ala1865Asp)
|
rs1589354582
|
|
NM_001130438.3(SPTAN1):c.5602G>T (p.Gly1868Cys)
|
rs2131816719
|
|
NM_001130438.3(SPTAN1):c.5609G>A (p.Arg1870Gln)
|
rs1857510980
|
|
NM_001130438.3(SPTAN1):c.5674A>C (p.Asn1892His)
|
|
|
NM_001130438.3(SPTAN1):c.5679G>T (p.Glu1893Asp)
|
rs1857518094
|
|
NM_001130438.3(SPTAN1):c.56G>A (p.Arg19Gln)
|
|
|
NM_001130438.3(SPTAN1):c.5701G>A (p.Glu1901Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5702A>G (p.Glu1901Gly)
|
rs2131818051
|
|
NM_001130438.3(SPTAN1):c.5717C>G (p.Thr1906Ser)
|
|
|
NM_001130438.3(SPTAN1):c.5725G>A (p.Ala1909Thr)
|
|
|
NM_001130438.3(SPTAN1):c.5733+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.5763G>T (p.Glu1921Asp)
|
|
|
NM_001130438.3(SPTAN1):c.5788C>T (p.Arg1930Cys)
|
rs267602137
|
|
NM_001130438.3(SPTAN1):c.5818G>C (p.Asp1940His)
|
|
|
NM_001130438.3(SPTAN1):c.5832+3G>A
|
rs1368511172
|
|
NM_001130438.3(SPTAN1):c.5836A>T (p.Asn1946Tyr)
|
rs1858409467
|
|
NM_001130438.3(SPTAN1):c.5841C>G (p.His1947Gln)
|
rs1564311308
|
|
NM_001130438.3(SPTAN1):c.5867T>A (p.Met1956Lys)
|
|
|
NM_001130438.3(SPTAN1):c.5867T>C (p.Met1956Thr)
|
rs878854246
|
|
NM_001130438.3(SPTAN1):c.5891C>T (p.Ser1964Leu)
|
|
|
NM_001130438.3(SPTAN1):c.5899G>C (p.Glu1967Gln)
|
rs1858419335
|
|
NM_001130438.3(SPTAN1):c.5915A>G (p.Gln1972Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5924C>G (p.Ala1975Gly)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.5924C>T (p.Ala1975Val)
|
rs772780483
|
|
NM_001130438.3(SPTAN1):c.592A>G (p.Met198Val)
|
|
|
NM_001130438.3(SPTAN1):c.593T>A (p.Met198Lys)
|
rs924110992
|
|
NM_001130438.3(SPTAN1):c.5944G>T (p.Ala1982Ser)
|
rs2131923594
|
|
NM_001130438.3(SPTAN1):c.5948T>G (p.Phe1983Cys)
|
|
|
NM_001130438.3(SPTAN1):c.5950C>A (p.Leu1984Ile)
|
rs1440498629
|
|
NM_001130438.3(SPTAN1):c.5960A>C (p.Asn1987Thr)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5960A>T (p.Asn1987Ile)
|
rs768166158
|
|
NM_001130438.3(SPTAN1):c.5966A>G (p.Lys1989Arg)
|
|
|
NM_001130438.3(SPTAN1):c.5984C>T (p.Ser1995Phe)
|
|
|
NM_001130438.3(SPTAN1):c.5991C>T (p.Ile1997=)
|
|
|
NM_001130438.3(SPTAN1):c.6067C>G (p.Gln2023Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6070-3C>G
|
rs1858641214
|
|
NM_001130438.3(SPTAN1):c.6088C>T (p.Leu2030=)
|
|
|
NM_001130438.3(SPTAN1):c.6093G>T (p.Gln2031His)
|
|
|
NM_001130438.3(SPTAN1):c.6103C>A (p.Gln2035Lys)
|
rs145129059
|
|
NM_001130438.3(SPTAN1):c.6103C>G (p.Gln2035Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6114T>G (p.Ile2038Met)
|
|
|
NM_001130438.3(SPTAN1):c.6155A>G (p.Lys2052Arg)
|
rs2131953509
|
|
NM_001130438.3(SPTAN1):c.6165G>T (p.Gln2055His)
|
rs2131953698
|
|
NM_001130438.3(SPTAN1):c.6169A>G (p.Lys2057Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6175A>G (p.Ile2059Val)
|
|
|
NM_001130438.3(SPTAN1):c.617A>T (p.Asn206Ile)
|
rs752726486
|
|
NM_001130438.3(SPTAN1):c.6187C>T (p.His2063Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6191C>T (p.Ala2064Val)
|
|
|
NM_001130438.3(SPTAN1):c.6199A>G (p.Met2067Val)
|
|
|
NM_001130438.3(SPTAN1):c.6201G>T (p.Met2067Ile)
|
rs2131954418
|
|
NM_001130438.3(SPTAN1):c.6206G>A (p.Arg2069Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6223G>A (p.Ala2075Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6226A>G (p.Asn2076Asp)
|
rs1251099177
|
|
NM_001130438.3(SPTAN1):c.6230C>T (p.Ser2077Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6238C>G (p.Arg2080Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6241AAG[2] (p.Lys2083del)
|
rs1858669268
|
|
NM_001130438.3(SPTAN1):c.6253C>A (p.Leu2085Met)
|
|
|
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro)
|
rs1564315528
|
|
NM_001130438.3(SPTAN1):c.6260C>G (p.Ala2087Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6262C>G (p.Gln2088Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6275G>T (p.Arg2092Leu)
|
|
|
NM_001130438.3(SPTAN1):c.6279+3G>A
|
|
|
NM_001130438.3(SPTAN1):c.6279+4A>G
|
|
|
NM_001130438.3(SPTAN1):c.6282G>A (p.Val2094=)
|
rs1554766786
|
|
NM_001130438.3(SPTAN1):c.6286G>A (p.Asp2096Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6304G>A (p.Ala2102Thr)
|
|
|
NM_001130438.3(SPTAN1):c.630G>T (p.Gln210His)
|
rs1851179826
|
|
NM_001130438.3(SPTAN1):c.6347A>C (p.Glu2116Ala)
|
rs2131965544
|
|
NM_001130438.3(SPTAN1):c.6376A>G (p.Asn2126Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6389A>T (p.Glu2130Val)
|
rs1858765679
|
|
NM_001130438.3(SPTAN1):c.6403C>A (p.Arg2135Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6403C>T (p.Arg2135Cys)
|
rs751337586
|
|
NM_001130438.3(SPTAN1):c.6406G>A (p.Glu2136Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6416A>G (p.Asp2139Gly)
|
|
|
NM_001130438.3(SPTAN1):c.6418G>A (p.Ala2140Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6425G>C (p.Arg2142Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6427T>C (p.Ser2143Pro)
|
|
|
NM_001130438.3(SPTAN1):c.6428C>T (p.Ser2143Phe)
|
|
|
NM_001130438.3(SPTAN1):c.6446A>G (p.Gln2149Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6469G>A (p.Glu2157Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6470A>G (p.Glu2157Gly)
|
rs985288328
|
|
NM_001130438.3(SPTAN1):c.6478C>T (p.Arg2160Cys)
|
rs780696613
|
|
NM_001130438.3(SPTAN1):c.6482A>G (p.Gln2161Arg)
|
rs1858781937
|
|
NM_001130438.3(SPTAN1):c.6491G>A (p.Ser2164Asn)
|
|
|
NM_001130438.3(SPTAN1):c.6491G>C (p.Ser2164Thr)
|
|
|
NM_001130438.3(SPTAN1):c.6494T>C (p.Phe2165Ser)
|
rs1589389281
|
|
NM_001130438.3(SPTAN1):c.6514T>C (p.Tyr2172His)
|
|
|
NM_001130438.3(SPTAN1):c.6524T>A (p.Phe2175Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.6538C>A (p.Leu2180Met)
|
|
|
NM_001130438.3(SPTAN1):c.6542A>C (p.Glu2181Ala)
|
rs760925342
|
|
NM_001130438.3(SPTAN1):c.654G>T (p.Glu218Asp)
|
|
|
NM_001130438.3(SPTAN1):c.6553A>G (p.Arg2185Gly)
|
rs2131968714
|
|
NM_001130438.3(SPTAN1):c.6557A>G (p.Asn2186Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6568A>G (p.Ile2190Val)
|
|
|
NM_001130438.3(SPTAN1):c.6576+4C>T
|
|
|
NM_001130438.3(SPTAN1):c.6576G>A (p.Lys2192=)
|
|
|
NM_001130438.3(SPTAN1):c.6607C>T (p.Arg2203Trp)
|
rs759842941
|
|
NM_001130438.3(SPTAN1):c.6622A>C (p.Asn2208His)
|
|
|
NM_001130438.3(SPTAN1):c.662C>G (p.Pro221Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6634C>T (p.Arg2212Cys)
|
rs1589393382
|
|
NM_001130438.3(SPTAN1):c.6673T>A (p.Trp2225Arg)
|
|
|
NM_001130438.3(SPTAN1):c.6691A>G (p.Thr2231Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6707+5A>G
|
|
|
NM_001130438.3(SPTAN1):c.6754G>T (p.Ala2252Ser)
|
rs1859501262
|
|
NM_001130438.3(SPTAN1):c.6760A>G (p.Lys2254Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6762+3A>G
|
|
|
NM_001130438.3(SPTAN1):c.6762+3_6762+6del
|
rs1554768212
|
|
NM_001130438.3(SPTAN1):c.6778A>G (p.Ile2260Val)
|
|
|
NM_001130438.3(SPTAN1):c.677T>G (p.Ile226Ser)
|
|
|
NM_001130438.3(SPTAN1):c.6782G>A (p.Arg2261Gln)
|
rs1859856842
|
|
NM_001130438.3(SPTAN1):c.6806A>G (p.Lys2269Arg)
|
rs1859859210
|
|
NM_001130438.3(SPTAN1):c.6816C>A (p.Asp2272Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6826G>T (p.Ala2276Ser)
|
rs375244907
|
|
NM_001130438.3(SPTAN1):c.682A>G (p.Thr228Ala)
|
|
|
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile)
|
rs1341044436
|
|
NM_001130438.3(SPTAN1):c.6863C>T (p.Thr2288Met)
|
rs2132089093
|
|
NM_001130438.3(SPTAN1):c.6877G>A (p.Val2293Met)
|
|
|
NM_001130438.3(SPTAN1):c.6886G>A (p.Ala2296Thr)
|
rs2132089475
|
|
NM_001130438.3(SPTAN1):c.6892C>G (p.Gln2298Glu)
|
|
|
NM_001130438.3(SPTAN1):c.6902A>T (p.Gln2301Leu)
|
rs1859871133
|
|
NM_001130438.3(SPTAN1):c.692A>G (p.Asp231Gly)
|
rs2131005873
|
|
NM_001130438.3(SPTAN1):c.694G>A (p.Glu232Lys)
|
|
|
NM_001130438.3(SPTAN1):c.6959+5C>T
|
rs1057523269
|
|
NM_001130438.3(SPTAN1):c.6960-3C>T
|
|
|
NM_001130438.3(SPTAN1):c.6960G>A (p.Arg2320=)
|
rs1276832919
|
|
NM_001130438.3(SPTAN1):c.7005G>C (p.Met2335Ile)
|
|
|
NM_001130438.3(SPTAN1):c.701A>T (p.Asn234Ile)
|
|
|
NM_001130438.3(SPTAN1):c.7040G>C (p.Arg2347Thr)
|
rs1859949028
|
|
NM_001130438.3(SPTAN1):c.7048C>G (p.His2350Asp)
|
|
|
NM_001130438.3(SPTAN1):c.7067G>A (p.Cys2356Tyr)
|
|
|
NM_001130438.3(SPTAN1):c.7072C>T (p.Arg2358Cys)
|
rs772463904
|
|
NM_001130438.3(SPTAN1):c.7084T>C (p.Tyr2362His)
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rs957046231
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NM_001130438.3(SPTAN1):c.7108G>C (p.Gly2370Arg)
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rs1257414255
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NM_001130438.3(SPTAN1):c.7123G>C (p.Glu2375Gln)
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NM_001130438.3(SPTAN1):c.7129G>C (p.Glu2377Gln)
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rs757162652
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NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr)
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rs767301092
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NM_001130438.3(SPTAN1):c.7141G>A (p.Asp2381Asn)
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rs1436043063
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NM_001130438.3(SPTAN1):c.7154C>A (p.Pro2385Gln)
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NM_001130438.3(SPTAN1):c.7154C>T (p.Pro2385Leu)
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NM_001130438.3(SPTAN1):c.7160+4AATT[3]
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NM_001130438.3(SPTAN1):c.7160+5_7160+9del
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rs747442396
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NM_001130438.3(SPTAN1):c.7161-13C>G
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NM_001130438.3(SPTAN1):c.7161-3T>C
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NM_001130438.3(SPTAN1):c.7166G>A (p.Gly2389Asp)
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NM_001130438.3(SPTAN1):c.716G>A (p.Arg239Gln)
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NM_001130438.3(SPTAN1):c.7198A>C (p.Met2400Leu)
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rs1339856488
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NM_001130438.3(SPTAN1):c.7208G>A (p.Arg2403His)
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rs1280116999
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NM_001130438.3(SPTAN1):c.7210G>A (p.Glu2404Lys)
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NM_001130438.3(SPTAN1):c.7246A>C (p.Ser2416Arg)
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NM_001130438.3(SPTAN1):c.7247G>A (p.Ser2416Asn)
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rs1445682776
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NM_001130438.3(SPTAN1):c.7249G>A (p.Ala2417Thr)
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rs143739246
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NM_001130438.3(SPTAN1):c.7256G>T (p.Arg2419Leu)
|
rs772995493
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NM_001130438.3(SPTAN1):c.725G>C (p.Gly242Ala)
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NM_001130438.3(SPTAN1):c.7264A>G (p.Ser2422Gly)
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NM_001130438.3(SPTAN1):c.7265G>A (p.Ser2422Asn)
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NM_001130438.3(SPTAN1):c.7267_7268delinsAA (p.Ser2423Lys)
|
rs1860016560
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NM_001130438.3(SPTAN1):c.7272G>C (p.Glu2424Asp)
|
rs766229911
|
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NM_001130438.3(SPTAN1):c.7279C>T (p.Pro2427Ser)
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NM_001130438.3(SPTAN1):c.7280C>T (p.Pro2427Leu)
|
rs1860019438
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NM_001130438.3(SPTAN1):c.7291A>G (p.Lys2431Glu)
|
rs2132107869
|
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NM_001130438.3(SPTAN1):c.7295A>C (p.Glu2432Ala)
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NM_001130438.3(SPTAN1):c.7299G>T (p.Glu2433Asp)
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NM_001130438.3(SPTAN1):c.7307_7308+30dup
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NM_001130438.3(SPTAN1):c.7308+17G>T
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NM_001130438.3(SPTAN1):c.7309-7C>G
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NM_001130438.3(SPTAN1):c.730G>A (p.Ala244Thr)
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NM_001130438.3(SPTAN1):c.7316C>A (p.Thr2439Asn)
|
rs746532292
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NM_001130438.3(SPTAN1):c.7324C>A (p.Gln2442Lys)
|
rs2132117718
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NM_001130438.3(SPTAN1):c.7335C>G (p.Tyr2445Ter)
|
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NM_001130438.3(SPTAN1):c.7353_7354delinsAA (p.Pro2452Thr)
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NM_001130438.3(SPTAN1):c.7355C>T (p.Pro2452Leu)
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NM_001130438.3(SPTAN1):c.7360G>C (p.Val2454Leu)
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NM_001130438.3(SPTAN1):c.7385C>A (p.Pro2462His)
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NM_001130438.3(SPTAN1):c.7385C>T (p.Pro2462Leu)
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NM_001130438.3(SPTAN1):c.7391C>A (p.Ala2464Glu)
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NM_001130438.3(SPTAN1):c.7401C>A (p.Tyr2467Ter)
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NM_001130438.3(SPTAN1):c.7406A>C (p.Glu2469Ala)
|
rs1860133867
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NM_001130438.3(SPTAN1):c.7409T>A (p.Phe2470Tyr)
|
rs1860134597
|
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NM_001130438.3(SPTAN1):c.7420C>A (p.Leu2474Ile)
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NM_001130438.3(SPTAN1):c.7420C>T (p.Leu2474Phe)
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NM_001130438.3(SPTAN1):c.746G>A (p.Gly249Glu)
|
rs1851368468
|
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NM_001130438.3(SPTAN1):c.74G>A (p.Arg25Gln)
|
rs1850091477
|
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NM_001130438.3(SPTAN1):c.794A>G (p.Asp265Gly)
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NM_001130438.3(SPTAN1):c.829T>G (p.Leu277Val)
|
rs1851404419
|
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NM_001130438.3(SPTAN1):c.831A>T (p.Leu277Phe)
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NM_001130438.3(SPTAN1):c.835G>A (p.Ala279Thr)
|
rs1300670035
|
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NM_001130438.3(SPTAN1):c.841GAT[1] (p.Asp282del)
|
rs1564211324
|
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NM_001130438.3(SPTAN1):c.856G>C (p.Asp286His)
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NM_001130438.3(SPTAN1):c.868G>A (p.Val290Ile)
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NM_001130438.3(SPTAN1):c.877C>G (p.Leu293Val)
|
rs763633945
|
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NM_001130438.3(SPTAN1):c.883C>T (p.Arg295Trp)
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NM_001130438.3(SPTAN1):c.903G>T (p.Glu301Asp)
|
rs2131012602
|
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NM_001130438.3(SPTAN1):c.909T>G (p.Asp303Glu)
|
rs761676912
|
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NM_001130438.3(SPTAN1):c.928A>G (p.Lys310Glu)
|
|
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NM_001130438.3(SPTAN1):c.930G>A (p.Lys310=)
|
rs1851412252
|
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NM_001130438.3(SPTAN1):c.931G>A (p.Val311Ile)
|
|
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NM_001130438.3(SPTAN1):c.937G>A (p.Ala313Thr)
|
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NM_001130438.3(SPTAN1):c.937G>C (p.Ala313Pro)
|
rs778408492
|
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NM_001130438.3(SPTAN1):c.955G>A (p.Asp319Asn)
|
|
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NM_001130438.3(SPTAN1):c.969G>C (p.Gln323His)
|
rs2131014686
|
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NM_001130438.3(SPTAN1):c.970T>A (p.Ser324Thr)
|
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NM_001130438.3(SPTAN1):c.991C>G (p.Gln331Glu)
|
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