|
NM_006642.5(SDCCAG8):c.-47T>A
|
rs3904682
|
0.41725
|
|
NM_006642.5(SDCCAG8):c.1725G>A (p.Glu575=)
|
rs10927011
|
0.41204
|
|
NM_006642.5(SDCCAG8):c.1473+48dup
|
rs398050192
|
0.26150
|
|
NM_006642.5(SDCCAG8):c.1134A>T (p.Glu378Asp)
|
rs2275155
|
0.25552
|
|
NM_006642.5(SDCCAG8):c.912C>T (p.Thr304=)
|
rs976529
|
0.02103
|
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
|
NM_006642.5(SDCCAG8):c.1761G>A (p.Leu587=)
|
rs149837444
|
0.00190
|
|
NM_006642.5(SDCCAG8):c.929+18C>T
|
rs200895248
|
0.00164
|
|
NM_006642.5(SDCCAG8):c.1501G>C (p.Asp501His)
|
rs150646039
|
0.00138
|
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
|
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile)
|
rs150070966
|
0.00094
|
|
NM_006642.5(SDCCAG8):c.-4G>A
|
rs113193158
|
0.00083
|
|
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His)
|
rs79762798
|
0.00077
|
|
NM_006642.5(SDCCAG8):c.-130C>A
|
rs547776191
|
0.00072
|
|
NM_006642.5(SDCCAG8):c.925G>A (p.Val309Ile)
|
rs149359674
|
0.00072
|
|
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=)
|
rs148818431
|
0.00069
|
|
NM_006642.5(SDCCAG8):c.1474-6C>T
|
rs376414138
|
0.00068
|
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
|
NM_006642.5(SDCCAG8):c.348C>T (p.His116=)
|
rs143226730
|
0.00051
|
|
NM_006642.5(SDCCAG8):c.547-4T>G
|
rs12080579
|
0.00049
|
|
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val)
|
rs201869920
|
0.00046
|
|
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu)
|
rs146474568
|
0.00038
|
|
NM_006642.5(SDCCAG8):c.744C>T (p.Asn248=)
|
rs138449445
|
0.00036
|
|
NM_006642.5(SDCCAG8):c.798T>C (p.His266=)
|
rs74586093
|
0.00036
|
|
NM_006642.5(SDCCAG8):c.-121C>T
|
rs768318766
|
0.00030
|
|
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala)
|
rs201580075
|
0.00029
|
|
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile)
|
rs6672843
|
0.00029
|
|
NM_006642.5(SDCCAG8):c.1068+3A>G
|
rs201388041
|
0.00024
|
|
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu)
|
rs199919586
|
0.00023
|
|
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr)
|
rs200461035
|
0.00019
|
|
NM_006642.5(SDCCAG8):c.221-4A>G
|
rs373526073
|
0.00018
|
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
0.00018
|
|
NM_006642.5(SDCCAG8):c.1474-20T>C
|
rs185598556
|
0.00016
|
|
NM_006642.5(SDCCAG8):c.421-16G>T
|
rs780682849
|
0.00016
|
|
NM_006642.5(SDCCAG8):c.929+17G>A
|
rs376439930
|
0.00014
|
|
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln)
|
rs556191085
|
0.00013
|
|
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys)
|
rs150961792
|
0.00011
|
|
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly)
|
rs770306576
|
0.00010
|
|
NM_006642.5(SDCCAG8):c.740+14G>A
|
rs373462087
|
0.00010
|
|
NM_006642.5(SDCCAG8):c.929+16C>T
|
rs374451621
|
0.00010
|
|
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser)
|
rs761616528
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.220+3G>A
|
rs370361491
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys)
|
rs143447584
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.729G>A (p.Leu243=)
|
rs199629519
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln)
|
rs149038104
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys)
|
rs769004589
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.915C>T (p.Ile305=)
|
rs371251483
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser)
|
rs200294385
|
0.00009
|
|
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile)
|
rs745634199
|
0.00008
|
|
NM_006642.5(SDCCAG8):c.1744+20T>G
|
rs368472127
|
0.00008
|
|
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala)
|
rs749010399
|
0.00008
|
|
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val)
|
rs74701277
|
0.00007
|
|
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu)
|
rs980791573
|
0.00007
|
|
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu)
|
rs1308863502
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr)
|
rs145984257
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1071T>C (p.Ala357=)
|
rs144234264
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln)
|
rs375037219
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys)
|
rs372641187
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.1935G>A (p.Leu645=)
|
rs185944691
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.220+20C>T
|
rs200013862
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg)
|
rs750977682
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His)
|
rs577345357
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly)
|
rs377564587
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)
|
rs772544112
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.740+356C>T
|
rs397515337
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.99A>G (p.Thr33=)
|
rs150953430
|
0.00006
|
|
NM_006642.5(SDCCAG8):c.180C>T (p.Asp60=)
|
rs377358593
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr)
|
rs776810375
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.498T>G (p.Ser166=)
|
rs762183907
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.67+20T>C
|
rs562137055
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys)
|
rs576672580
|
0.00005
|
|
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val)
|
rs765529431
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys)
|
rs190020173
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.1617-16C>G
|
rs765508271
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.1752A>G (p.Glu584=)
|
rs1007802384
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.307-10T>A
|
rs371148493
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.415T>C (p.Cys139Arg)
|
rs769333887
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.963C>T (p.Ser321=)
|
rs751551796
|
0.00004
|
|
NM_006642.5(SDCCAG8):c.-131T>C
|
rs886046327
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1086C>T (p.Asp362=)
|
rs753378348
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1116G>A (p.Ala372=)
|
rs533721896
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His)
|
rs748784645
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1616+20T>C
|
rs370951420
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile)
|
rs565662622
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg)
|
rs371805116
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1985+1G>T
|
rs752046196
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.220+2T>C
|
rs757796329
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro)
|
rs541533278
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=)
|
rs764668676
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.676-4A>G
|
rs377256554
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp)
|
rs765751496
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg)
|
rs147807589
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.987G>A (p.Thr329=)
|
rs778065772
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.996A>G (p.Arg332=)
|
rs142658750
|
0.00003
|
|
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn)
|
rs199524638
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1131A>G (p.Lys377=)
|
rs775394110
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile)
|
rs762653933
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1449C>T (p.Asn483=)
|
rs962469606
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu)
|
rs747363592
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr)
|
rs775898129
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1745-2A>G
|
rs1442457872
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile)
|
rs776040834
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.207A>G (p.Gln69=)
|
rs200994363
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.63C>T (p.Leu21=)
|
rs763991953
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys)
|
rs373999051
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys)
|
rs774139674
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.741-7T>C
|
rs755931555
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp)
|
rs770183847
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.929+19G>A
|
rs753008205
|
0.00002
|
|
NM_006642.5(SDCCAG8):c.-106G>T
|
rs886046328
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys)
|
rs771991355
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1069-8C>T
|
rs752672598
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys)
|
rs780671703
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln)
|
rs553797432
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser)
|
rs756642876
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn)
|
rs377237088
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr)
|
rs1041307493
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val)
|
rs1298150302
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val)
|
rs752002252
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val)
|
rs1345199314
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn)
|
rs777728424
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala)
|
rs779777531
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn)
|
rs781182231
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val)
|
rs769796315
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp)
|
rs769286565
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln)
|
rs772853104
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr)
|
rs1015302300
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1357-20A>G
|
rs200921543
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His)
|
rs1182496392
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1404G>A (p.Lys468=)
|
rs759125934
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr)
|
rs190941099
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys)
|
rs761873846
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr)
|
rs761873846
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly)
|
rs1273880712
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu)
|
rs1573445816
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe)
|
rs1432354431
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1503T>C (p.Asp501=)
|
rs757292520
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1517A>G (p.His506Arg)
|
rs745351109
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1527G>A (p.Gln509=)
|
rs2077756382
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1587C>T (p.Gly529=)
|
rs144194469
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg)
|
rs1388276184
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1690G>C (p.Glu564Gln)
|
rs750265815
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1717C>T (p.Gln573Ter)
|
rs1286714661
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro)
|
rs771493123
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala)
|
rs780281311
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val)
|
rs776765317
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg)
|
rs760154232
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His)
|
rs138187640
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser)
|
rs752896885
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1914A>G (p.Leu638=)
|
rs756352013
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1942C>T (p.Gln648Ter)
|
rs367572249
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg)
|
rs746505992
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu)
|
rs1415587153
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.1973C>T (p.Thr658Met)
|
rs1057515530
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.198C>T (p.Pro66=)
|
rs201715098
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.306+17C>T
|
rs2068044491
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.306+8T>C
|
rs755109862
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.307-1G>A
|
rs1460888769
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.307-3T>C
|
rs901028030
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn)
|
rs913322544
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg)
|
rs778785206
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val)
|
rs377473337
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr)
|
rs758051187
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe)
|
rs763172123
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val)
|
rs747774826
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.517C>T (p.Leu173=)
|
rs373877739
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.542C>T (p.Ala181Val)
|
rs372403021
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.546+1G>A
|
rs756907665
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=)
|
rs564399164
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser)
|
rs185077992
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala)
|
rs1003029505
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr)
|
rs753823148
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.67+17C>G
|
rs1311985140
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.67+18T>G
|
rs1196615059
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.675+1G>A
|
rs1022080658
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.679A>T (p.Lys227Ter)
|
rs267607031
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser)
|
rs747968552
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr)
|
rs1299404653
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.740+11A>C
|
rs1047427016
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser)
|
rs1357310997
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.858T>C (p.Cys286=)
|
rs1376976473
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.929+13C>G
|
rs201615763
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.929+6T>C
|
rs949556945
|
0.00001
|
|
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe)
|
rs368258515
|
0.00001
|
|
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
|
|
|
|
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
|
|
|
|
NC_000001.10:g.(?_243433387)_(243437978_?)del
|
|
|
|
NC_000001.10:g.(?_243437825)_(243437978_?)del
|
|
|
|
NC_000001.10:g.(?_243456373)_(243456541_?)del
|
|
|
|
NC_000001.10:g.(?_243493822)_(243494014_?)dup
|
|
|
|
NC_000001.10:g.(?_243504321)_(243507653_?)del
|
|
|
|
NC_000001.10:g.(?_243507497)_(243507653_?)del
|
|
|
|
NC_000001.10:g.(?_243578984)_(243589880_?)del
|
|
|
|
NC_000001.10:g.(?_243589709)_(243589880_?)del
|
|
|
|
NC_000001.11:g.(?_243415682)_(243415849_?)del
|
|
|
|
NM_006642.3:c.1069_1356del
|
|
|
|
NM_006642.5(SDCCAG8):c.-98C>T
|
rs886046329
|
|
|
NM_006642.5(SDCCAG8):c.1014A>G (p.Glu338=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile)
|
rs760942783
|
|
|
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
|
|
|
|
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
|
|
|
|
NM_006642.5(SDCCAG8):c.1068+10A>C
|
rs2073291837
|
|
|
NM_006642.5(SDCCAG8):c.1068+17G>A
|
|
|
|
NM_006642.5(SDCCAG8):c.1068+1G>A
|
|
|
|
NM_006642.5(SDCCAG8):c.1069-3C>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
|
|
|
|
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys)
|
rs115098969
|
|
|
NM_006642.5(SDCCAG8):c.1094G>C (p.Arg365Thr)
|
rs115098969
|
|
|
NM_006642.5(SDCCAG8):c.1095G>A (p.Arg365=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met)
|
rs1471866292
|
|
|
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
|
|
|
|
NM_006642.5(SDCCAG8):c.1120C>T (p.Arg374Ter)
|
rs770084716
|
|
|
NM_006642.5(SDCCAG8):c.1137T>G (p.Leu379=)
|
rs2074516253
|
|
|
NM_006642.5(SDCCAG8):c.1147C>T (p.Gln383Ter)
|
rs964673995
|
|
|
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly)
|
rs2074516888
|
|
|
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
|
|
|
|
NM_006642.5(SDCCAG8):c.1159del (p.Ala387fs)
|
rs778900414
|
|
|
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn)
|
rs2149349477
|
|
|
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
|
|
|
|
NM_006642.5(SDCCAG8):c.1177del (p.Met392_Met393insTer)
|
|
|
|
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
|
|
|
|
NM_006642.5(SDCCAG8):c.117C>A (p.Gly39=)
|
rs778405068
|
|
|
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
|
|
|
|
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
|
|
|
|
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
|
|
|
|
NM_006642.5(SDCCAG8):c.1194G>A (p.Thr398=)
|
rs542036953
|
|
|
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
|
|
|
|
NM_006642.5(SDCCAG8):c.1221+4C>G
|
|
|
|
NM_006642.5(SDCCAG8):c.1222-12T>G
|
rs2147781941
|
|
|
NM_006642.5(SDCCAG8):c.1222-9C>T
|
rs1005846276
|
|
|
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala)
|
rs2067972241
|
|
|
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
|
|
|
|
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
|
|
|
|
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
|
|
|
|
NM_006642.5(SDCCAG8):c.1260C>G (p.Ala420=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1263G>A (p.Gln421=)
|
rs2147782083
|
|
|
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile)
|
rs370072966
|
|
|
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe)
|
rs370072966
|
|
|
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly)
|
rs1364309751
|
|
|
NM_006642.5(SDCCAG8):c.1284A>G (p.Glu428=)
|
|
|
|
NM_006642.5(SDCCAG8):c.12C>G (p.Ser4=)
|
rs577033259
|
|
|
NM_006642.5(SDCCAG8):c.12C>T (p.Ser4=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
|
|
|
|
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
|
|
|
|
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
|
|
|
|
NM_006642.5(SDCCAG8):c.1324dup (p.Gln442fs)
|
rs747911477
|
|
|
NM_006642.5(SDCCAG8):c.1336C>A (p.Arg446=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1339dup (p.Glu447fs)
|
rs387906218
|
|
|
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg)
|
rs1015302300
|
|
|
NM_006642.5(SDCCAG8):c.1356+1G>C
|
rs2147782314
|
|
|
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=)
|
rs1057515483
|
|
|
NM_006642.5(SDCCAG8):c.1357-12A>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1357-13dup
|
|
|
|
NM_006642.5(SDCCAG8):c.1357-17T>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
|
|
|
|
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
|
|
|
|
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His)
|
rs2067972892
|
|
|
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys)
|
rs1250974056
|
|
|
NM_006642.5(SDCCAG8):c.138T>C (p.Asp46=)
|
rs2149263076
|
|
|
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg)
|
rs2147791053
|
|
|
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr)
|
rs775752533
|
|
|
NM_006642.5(SDCCAG8):c.1418dup (p.Glu474fs)
|
|
|
|
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys)
|
rs2075566223
|
|
|
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs)
|
rs397515335
|
|
|
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
|
|
|
|
NM_006642.5(SDCCAG8):c.1422G>A (p.Glu474=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly)
|
rs2147791136
|
|
|
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
|
|
|
|
NM_006642.5(SDCCAG8):c.1444del (p.Thr482fs)
|
rs587777847
|
|
|
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
|
|
|
|
NM_006642.5(SDCCAG8):c.1473+14_1473+21del
|
|
|
|
NM_006642.5(SDCCAG8):c.1474-16C>T
|
rs2147905078
|
|
|
NM_006642.5(SDCCAG8):c.1474-19C>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1474-8T>C
|
rs2147905136
|
|
|
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
|
|
|
|
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val)
|
rs1558382581
|
|
|
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe)
|
rs2067973932
|
|
|
NM_006642.5(SDCCAG8):c.1542A>C (p.Ala514=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys)
|
rs999154575
|
|
|
NM_006642.5(SDCCAG8):c.1575del (p.Glu526fs)
|
rs1390963789
|
|
|
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys)
|
rs753709808
|
|
|
NM_006642.5(SDCCAG8):c.15G>T (p.Pro5=)
|
rs922791738
|
|
|
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg)
|
rs1032332223
|
|
|
NM_006642.5(SDCCAG8):c.1614C>T (p.Thr538=)
|
rs2077762211
|
|
|
NM_006642.5(SDCCAG8):c.1616+13C>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1616+14C>G
|
rs1051919568
|
|
|
NM_006642.5(SDCCAG8):c.1616+19A>G
|
|
|
|
NM_006642.5(SDCCAG8):c.1617-1G>A
|
|
|
|
NM_006642.5(SDCCAG8):c.1617-5T>C
|
rs904057670
|
|
|
NM_006642.5(SDCCAG8):c.1620G>A (p.Gln540=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1628_1631del (p.Asp543fs)
|
rs587777846
|
|
|
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser)
|
rs2080530513
|
|
|
NM_006642.5(SDCCAG8):c.1653G>A (p.Lys551=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1671C>A (p.Ala557=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1683G>A (p.Gln561=)
|
rs2148013434
|
|
|
NM_006642.5(SDCCAG8):c.168G>A (p.Val56=)
|
rs1161608103
|
|
|
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
|
|
|
|
NM_006642.5(SDCCAG8):c.1695G>A (p.Gln565=)
|
rs2080533501
|
|
|
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
|
|
|
|
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
|
|
|
|
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg)
|
rs2067975157
|
|
|
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln)
|
rs1201744229
|
|
|
NM_006642.5(SDCCAG8):c.1714C>T (p.Gln572Ter)
|
rs1573920009
|
|
|
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val)
|
rs766677544
|
|
|
NM_006642.5(SDCCAG8):c.1744+12G>A
|
|
|
|
NM_006642.5(SDCCAG8):c.1744+9T>C
|
rs2148013630
|
|
|
NM_006642.5(SDCCAG8):c.1745-14A>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1745-6T>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1745-7T>A
|
rs532763241
|
|
|
NM_006642.5(SDCCAG8):c.1745-8A>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
|
|
|
|
NM_006642.5(SDCCAG8):c.1755G>A (p.Gln585=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
|
|
|
|
NM_006642.5(SDCCAG8):c.1763T>A (p.Leu588Ter)
|
rs2080721288
|
|
|
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn)
|
rs2148018533
|
|
|
NM_006642.5(SDCCAG8):c.1770C>T (p.Thr590=)
|
rs2080721977
|
|
|
NM_006642.5(SDCCAG8):c.1815A>G (p.Thr605=)
|
|
|
|
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
|
|
|
|
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser)
|
rs149928402
|
|
|
NM_006642.5(SDCCAG8):c.1828C>T (p.Leu610=)
|
|
|
|
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
|
|
|
|
NM_006642.5(SDCCAG8):c.1833A>G (p.Glu611=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val)
|
rs2148018705
|
|
|
NM_006642.5(SDCCAG8):c.1853+13A>G
|
rs2148018785
|
|
|
NM_006642.5(SDCCAG8):c.1853+14T>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1853+1G>A
|
rs1573930690
|
|
|
NM_006642.5(SDCCAG8):c.1853+2T>A
|
|
|
|
NM_006642.5(SDCCAG8):c.1853+2T>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1854-18T>C
|
|
|
|
NM_006642.5(SDCCAG8):c.1854-6C>T
|
rs951967006
|
|
|
NM_006642.5(SDCCAG8):c.1854-7C>T
|
|
|
|
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met)
|
rs548855151
|
|
|
NM_006642.5(SDCCAG8):c.1887G>A (p.Arg629=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1893A>G (p.Thr631=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1896T>C (p.Tyr632=)
|
|
|
|
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
|
|
|
|
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
|
|
|
|
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
|
|
|
|
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His)
|
rs2148043381
|
|
|
NM_006642.5(SDCCAG8):c.1946_1949del (p.Cys649fs)
|
rs397515336
|
|
|
NM_006642.5(SDCCAG8):c.1956T>C (p.His652=)
|
|
|
|
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn)
|
rs1262692904
|
|
|
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
|
|
|
|
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
|
|
|
|
NM_006642.5(SDCCAG8):c.1985+14C>T
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NM_006642.5(SDCCAG8):c.1985+15A>G
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NM_006642.5(SDCCAG8):c.1985G>A (p.Arg662Lys)
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rs2081354187
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NM_006642.5(SDCCAG8):c.199G>T (p.Glu67Ter)
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rs756518004
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NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
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NM_006642.5(SDCCAG8):c.216T>C (p.His72=)
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rs2149263160
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NM_006642.5(SDCCAG8):c.220+17A>G
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NM_006642.5(SDCCAG8):c.220+7G>A
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NM_006642.5(SDCCAG8):c.221-10T>C
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NM_006642.5(SDCCAG8):c.221-13T>C
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NM_006642.5(SDCCAG8):c.221-14del
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NM_006642.5(SDCCAG8):c.221-1G>A
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rs2068036602
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NM_006642.5(SDCCAG8):c.221-2A>G
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rs797045946
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NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro)
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rs1193390013
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NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)
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rs2149263988
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NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser)
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rs143447584
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NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
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NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)
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rs201658593
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NM_006642.5(SDCCAG8):c.252del (p.Ala85fs)
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NM_006642.5(SDCCAG8):c.255A>G (p.Ala85=)
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NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
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NM_006642.5(SDCCAG8):c.264A>G (p.Glu88=)
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NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser)
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rs1284369812
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NM_006642.5(SDCCAG8):c.278C>T (p.Pro93Leu)
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rs140413256
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NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del)
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rs751190536
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NM_006642.5(SDCCAG8):c.28C>T (p.Leu10=)
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NM_006642.5(SDCCAG8):c.306+11A>G
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rs781456866
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NM_006642.5(SDCCAG8):c.306+12C>T
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NM_006642.5(SDCCAG8):c.307-4A>G
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NM_006642.5(SDCCAG8):c.307-5C>T
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rs2149268621
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NM_006642.5(SDCCAG8):c.307-8dup
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NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
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NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln)
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rs773442925
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NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
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NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
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NM_006642.5(SDCCAG8):c.366T>C (p.Ile122=)
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rs2149268701
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NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro)
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rs2149268706
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NM_006642.5(SDCCAG8):c.378T>G (p.Ser126=)
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NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)
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rs768207230
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NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
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NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe)
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rs773522256
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NM_006642.5(SDCCAG8):c.420+11C>T
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NM_006642.5(SDCCAG8):c.420+12A>G
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rs2068379887
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NM_006642.5(SDCCAG8):c.420+1G>A
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NM_006642.5(SDCCAG8):c.420+1G>C
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NM_006642.5(SDCCAG8):c.420+20T>C
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NM_006642.5(SDCCAG8):c.420+5G>A
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NM_006642.5(SDCCAG8):c.420+8T>C
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NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
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NM_006642.5(SDCCAG8):c.421-11_421-8del
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NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
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NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val)
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rs371179612
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NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe)
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rs1453249734
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NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
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NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
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NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
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NM_006642.5(SDCCAG8):c.453A>G (p.Gln151=)
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NM_006642.5(SDCCAG8):c.46C>T (p.Gln16Ter)
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NM_006642.5(SDCCAG8):c.471C>T (p.Asn157=)
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NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
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NM_006642.5(SDCCAG8):c.480C>T (p.Leu160=)
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NM_006642.5(SDCCAG8):c.48G>A (p.Gln16=)
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NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His)
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rs1398602761
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NM_006642.5(SDCCAG8):c.501A>G (p.Gln167=)
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rs1265778354
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NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)
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NM_006642.5(SDCCAG8):c.543A>C (p.Ala181=)
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NM_006642.5(SDCCAG8):c.546+11T>C
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NM_006642.5(SDCCAG8):c.546+19C>T
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NM_006642.5(SDCCAG8):c.547-13C>T
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NM_006642.5(SDCCAG8):c.547-1G>A
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rs2070433656
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NM_006642.5(SDCCAG8):c.547-3T>C
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NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
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NM_006642.5(SDCCAG8):c.553_554del (p.Met185fs)
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NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
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NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
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NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
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rs797045948
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NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala)
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rs750128305
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NM_006642.5(SDCCAG8):c.588T>C (p.Ser196=)
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NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=)
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rs143407309
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NM_006642.5(SDCCAG8):c.597C>T (p.Gly199=)
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rs143407309
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NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe)
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rs1182767716
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NM_006642.5(SDCCAG8):c.629dup (p.Asn210fs)
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NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
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NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser)
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rs2149295739
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NM_006642.5(SDCCAG8):c.657T>C (p.Ala219=)
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NM_006642.5(SDCCAG8):c.67+10T>C
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NM_006642.5(SDCCAG8):c.67+17CT[3]
|
rs2066659937
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NM_006642.5(SDCCAG8):c.67+20T>G
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NM_006642.5(SDCCAG8):c.675+5G>C
|
rs968117633
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NM_006642.5(SDCCAG8):c.676-3T>C
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NM_006642.5(SDCCAG8):c.676-9T>C
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NM_006642.5(SDCCAG8):c.68-18G>A
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rs373020926
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NM_006642.5(SDCCAG8):c.68-19C>T
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NM_006642.5(SDCCAG8):c.68-20T>C
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NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
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NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro)
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rs776422346
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NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly)
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rs2067967236
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NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)
|
rs1558264626
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NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
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NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
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NM_006642.5(SDCCAG8):c.727T>C (p.Leu243=)
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NM_006642.5(SDCCAG8):c.740+16C>G
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NM_006642.5(SDCCAG8):c.740+18A>C
|
rs1394032819
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NM_006642.5(SDCCAG8):c.740+7T>A
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rs2149314969
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NM_006642.5(SDCCAG8):c.741-152G>A
|
rs2072310236
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NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
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NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu)
|
rs2149319564
|
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NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
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NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro)
|
rs2072330865
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NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly)
|
rs1179385721
|
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NM_006642.5(SDCCAG8):c.784G>T (p.Glu262Ter)
|
rs149038104
|
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NM_006642.5(SDCCAG8):c.787C>T (p.Gln263Ter)
|
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NM_006642.5(SDCCAG8):c.799A>T (p.Lys267Ter)
|
rs1558269718
|
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NM_006642.5(SDCCAG8):c.810T>A (p.Leu270=)
|
rs1573159964
|
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NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
|
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NM_006642.5(SDCCAG8):c.82del (p.Ser28fs)
|
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NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn)
|
rs2149262996
|
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NM_006642.5(SDCCAG8):c.849T>A (p.Cys283Ter)
|
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NM_006642.5(SDCCAG8):c.862C>T (p.Gln288Ter)
|
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NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
|
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NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
|
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NM_006642.5(SDCCAG8):c.891T>C (p.His297=)
|
rs1017949399
|
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NM_006642.5(SDCCAG8):c.894T>C (p.Thr298=)
|
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NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys)
|
rs777002036
|
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NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser)
|
rs2072347543
|
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NM_006642.5(SDCCAG8):c.930-17T>C
|
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NM_006642.5(SDCCAG8):c.930-4A>T
|
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NM_006642.5(SDCCAG8):c.930-7del
|
|
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NM_006642.5(SDCCAG8):c.933A>G (p.Glu311=)
|
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NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro)
|
rs2073277628
|
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NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
|
|
|
|
NM_006642.5(SDCCAG8):c.954A>C (p.Ala318=)
|
rs750272621
|
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NM_006642.5(SDCCAG8):c.963C>G (p.Ser321=)
|
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NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup)
|
rs1365929568
|
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NM_006642.5(SDCCAG8):c.976T>C (p.Leu326=)
|
rs2149331545
|
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NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
|
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|
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val)
|
rs2149331580
|
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NM_006642.5(SDCCAG8):c.99_100del (p.Ala35fs)
|
rs1033766338
|
|