NM_000023.4(SGCA):c.37+66C>T
|
rs9911548
|
0.99075
|
NM_000023.4(SGCA):c.983+240A>T
|
rs2696294
|
0.96110
|
NM_000023.4(SGCA):c.312+83C>T
|
rs2696297
|
0.83281
|
NM_000023.4(SGCA):c.585-222C>T
|
rs2696296
|
0.61363
|
NM_000023.4(SGCA):c.37+298G>A
|
rs2412299
|
0.53793
|
NM_000023.4(SGCA):c.747+212C>T
|
rs2696295
|
0.53440
|
NM_000023.4(SGCA):c.584+229G>A
|
rs16948744
|
0.40261
|
NM_000023.4(SGCA):c.385+167A>G
|
rs11868160
|
0.16228
|
NM_000023.4(SGCA):c.313-39C>A
|
rs59944537
|
0.14899
|
NM_000023.4(SGCA):c.933C>T (p.Val311=)
|
rs1801191
|
0.08920
|
NM_000023.4(SGCA):c.37+23G>A
|
rs79410682
|
0.04614
|
NM_000023.4(SGCA):c.386-166G>A
|
rs11870423
|
0.03655
|
NM_000023.4(SGCA):c.37+290G>A
|
rs73987434
|
0.01040
|
NM_000023.4(SGCA):c.528C>T (p.Thr176=)
|
rs1801190
|
0.00912
|
NM_000023.4(SGCA):c.38-96C>T
|
rs148431038
|
0.00865
|
NM_000023.4(SGCA):c.984-165C>T
|
rs143663300
|
0.00808
|
NM_000023.4(SGCA):c.984-100A>G
|
rs116638508
|
0.00799
|
NC_000017.11:g.50165951C>A
|
rs75145501
|
0.00730
|
NM_000023.4(SGCA):c.983+56C>A
|
rs147162020
|
0.00629
|
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys)
|
rs35495899
|
0.00555
|
NM_000023.4(SGCA):c.584+162C>T
|
rs190245746
|
0.00395
|
NM_000023.4(SGCA):c.158-11G>A
|
rs140261054
|
0.00157
|
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln)
|
rs145697858
|
0.00087
|
NM_000023.4(SGCA):c.843C>A (p.Ala281=)
|
rs149487996
|
0.00080
|
NM_000023.4(SGCA):c.366G>A (p.Leu122=)
|
rs147739328
|
0.00075
|
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser)
|
rs35130237
|
0.00056
|
NM_000023.4(SGCA):c.690G>C (p.Leu230=)
|
rs139454982
|
0.00049
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000023.4(SGCA):c.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000023.4(SGCA):c.984-10G>A
|
rs369385261
|
0.00026
|
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg)
|
rs201131924
|
0.00024
|
NM_000023.4(SGCA):c.37+10G>T
|
rs200626376
|
0.00019
|
NM_000023.4(SGCA):c.739G>A (p.Val247Met)
|
rs143570936
|
0.00019
|
NM_000023.4(SGCA):c.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys)
|
rs138945081
|
0.00014
|
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp)
|
rs200137051
|
0.00013
|
NM_000023.4(SGCA):c.408C>T (p.Ala136=)
|
rs143551687
|
0.00013
|
NM_000023.4(SGCA):c.819G>T (p.Pro273=)
|
rs35972733
|
0.00013
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_000023.4(SGCA):c.981C>T (p.Ser327=)
|
rs368522117
|
0.00013
|
NM_000023.4(SGCA):c.1076C>A (p.Thr359Asn)
|
rs146924667
|
0.00010
|
NM_000023.4(SGCA):c.320C>T (p.Ala107Val)
|
rs186669379
|
0.00010
|
NM_000023.4(SGCA):c.155T>G (p.Val52Gly)
|
rs148132791
|
0.00009
|
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu)
|
rs138019537
|
0.00009
|
NM_000023.4(SGCA):c.312+6G>A
|
rs371433770
|
0.00007
|
NM_000023.4(SGCA):c.350G>A (p.Arg117Gln)
|
rs117672945
|
0.00007
|
NM_000023.4(SGCA):c.766G>A (p.Glu256Lys)
|
rs746698767
|
0.00007
|
NM_000023.4(SGCA):c.1063C>T (p.Arg355Trp)
|
rs766855169
|
0.00006
|
NM_000023.4(SGCA):c.349C>T (p.Arg117Trp)
|
rs200075504
|
0.00006
|
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile)
|
rs199804735
|
0.00006
|
NM_000023.4(SGCA):c.657C>T (p.His219=)
|
rs747684069
|
0.00006
|
NM_000023.4(SGCA):c.313-10C>T
|
rs569744194
|
0.00005
|
NM_000023.4(SGCA):c.575G>A (p.Arg192Gln)
|
rs200945974
|
0.00005
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000023.4(SGCA):c.789C>A (p.Thr263=)
|
rs769688229
|
0.00005
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
NM_000023.4(SGCA):c.1091A>G (p.Asn364Ser)
|
rs756912039
|
0.00003
|
NM_000023.4(SGCA):c.1133C>T (p.Ala378Val)
|
rs751466306
|
0.00003
|
NM_000023.4(SGCA):c.158-4C>A
|
rs776411719
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000023.4(SGCA):c.307A>G (p.Ile103Val)
|
rs370819630
|
0.00003
|
NM_000023.4(SGCA):c.34G>A (p.Val12Met)
|
rs766209304
|
0.00003
|
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr)
|
rs768814872
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000023.4(SGCA):c.1027G>A (p.Glu343Lys)
|
rs201625981
|
0.00002
|
NM_000023.4(SGCA):c.1109G>A (p.Arg370Gln)
|
rs779834721
|
0.00002
|
NM_000023.4(SGCA):c.1132G>A (p.Ala378Thr)
|
rs375692868
|
0.00002
|
NM_000023.4(SGCA):c.197T>A (p.Leu66His)
|
rs767928766
|
0.00002
|
NM_000023.4(SGCA):c.230G>A (p.Arg77His)
|
rs369340251
|
0.00002
|
NM_000023.4(SGCA):c.242G>A (p.Arg81His)
|
rs747984529
|
0.00002
|
NM_000023.4(SGCA):c.402C>T (p.Tyr134=)
|
rs780264754
|
0.00002
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000023.4(SGCA):c.1052G>A (p.Arg351His)
|
rs765429436
|
0.00001
|
NM_000023.4(SGCA):c.1108C>T (p.Arg370Trp)
|
rs368243053
|
0.00001
|
NM_000023.4(SGCA):c.1121G>A (p.Arg374His)
|
rs150524482
|
0.00001
|
NM_000023.4(SGCA):c.1131C>T (p.Ser377=)
|
rs769951787
|
0.00001
|
NM_000023.4(SGCA):c.132G>A (p.Thr44=)
|
rs886044035
|
0.00001
|
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr)
|
rs60407644
|
0.00001
|
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr)
|
rs759692350
|
0.00001
|
NM_000023.4(SGCA):c.272G>A (p.Gly91Asp)
|
rs886044465
|
0.00001
|
NM_000023.4(SGCA):c.327T>C (p.Asn109=)
|
rs752288242
|
0.00001
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys)
|
rs372210292
|
0.00001
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
NM_000023.4(SGCA):c.489del (p.Leu164fs)
|
rs753650776
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.530del (p.Ser177fs)
|
rs886041387
|
0.00001
|
NM_000023.4(SGCA):c.555C>A (p.Val185=)
|
rs201518390
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000023.4(SGCA):c.585-1G>A
|
rs1342189589
|
0.00001
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys)
|
rs748936034
|
0.00001
|
NM_000023.4(SGCA):c.700G>A (p.Asp234Asn)
|
rs760608643
|
0.00001
|
NM_000023.4(SGCA):c.716A>G (p.His239Arg)
|
rs398123099
|
0.00001
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
NM_000023.4(SGCA):c.748-3C>T
|
rs794727834
|
0.00001
|
NM_000023.4(SGCA):c.80C>T (p.Thr27Met)
|
rs565069721
|
0.00001
|
NM_000023.4(SGCA):c.847G>C (p.Asp283His)
|
rs766674286
|
0.00001
|
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu)
|
rs886043256
|
0.00001
|
NM_000023.4(SGCA):c.957-11C>G
|
rs1391089933
|
0.00001
|
NM_000023.4(SGCA):c.*6=
|
|
|
NM_000023.4(SGCA):c.-5C>G
|
rs776195527
|
|
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs)
|
rs1598277713
|
|
NM_000023.4(SGCA):c.1080G>T (p.Leu360=)
|
rs1598277856
|
|
NM_000023.4(SGCA):c.111G>A (p.Val37=)
|
rs1567738869
|
|
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)
|
rs1487379783
|
|
NM_000023.4(SGCA):c.115_116insT (p.Thr39fs)
|
rs1567738897
|
|
NM_000023.4(SGCA):c.161del (p.Val54fs)
|
rs886044516
|
|
NM_000023.4(SGCA):c.168del (p.Ala57fs)
|
rs1555568264
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
NM_000023.4(SGCA):c.183dup (p.Tyr62fs)
|
rs886044688
|
|
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
|
|
|
NM_000023.4(SGCA):c.203del (p.Gly68fs)
|
rs1567739228
|
|
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe)
|
rs1555568335
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)
|
rs137852621
|
|
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)
|
rs2144494625
|
|
NM_000023.4(SGCA):c.312G>A (p.Glu104=)
|
rs886044401
|
|
NM_000023.4(SGCA):c.317_318del (p.Thr106fs)
|
rs1567739735
|
|
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs)
|
rs1555568518
|
|
NM_000023.4(SGCA):c.33C>T (p.Leu11=)
|
rs762704751
|
|
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs)
|
rs752640127
|
|
NM_000023.4(SGCA):c.359T>G (p.Leu120Arg)
|
rs886042335
|
|
NM_000023.4(SGCA):c.364C>G (p.Leu122Val)
|
rs1567739857
|
|
NM_000023.4(SGCA):c.37+2C>G
|
rs112500642
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
NM_000023.4(SGCA):c.38-198C>G
|
rs12939159
|
|
NM_000023.4(SGCA):c.38-337C>A
|
rs73334777
|
|
NM_000023.4(SGCA):c.38-337C>T
|
rs73334777
|
|
NM_000023.4(SGCA):c.38-46G>C
|
rs142537375
|
|
NM_000023.4(SGCA):c.385G>A (p.Gly129Ser)
|
rs886042692
|
|
NM_000023.4(SGCA):c.391del (p.Leu131fs)
|
rs144356125
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter)
|
rs886043221
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.450C>T (p.Pro150=)
|
rs886042559
|
|
NM_000023.4(SGCA):c.468C>T (p.Arg156=)
|
rs750297310
|
|
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)
|
rs1555568788
|
|
NM_000023.4(SGCA):c.488dup (p.Leu164fs)
|
rs763986788
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
|
|
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
|
rs574376340
|
|
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
|
rs574376340
|
|
NM_000023.4(SGCA):c.559C>T (p.Leu187Phe)
|
rs886044382
|
|
NM_000023.4(SGCA):c.577A>T (p.Lys193Ter)
|
rs1905125726
|
|
NM_000023.4(SGCA):c.584+156G>A
|
rs56273576
|
|
NM_000023.4(SGCA):c.585-1G>C
|
rs1342189589
|
|
NM_000023.4(SGCA):c.585-8G>A
|
rs1567741108
|
|
NM_000023.4(SGCA):c.586G>A (p.Val196Ile)
|
rs752695991
|
|
NM_000023.4(SGCA):c.600G>C (p.Val200=)
|
rs764188161
|
|
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
|
rs757481230
|
|
NM_000023.4(SGCA):c.623C>T (p.Thr208Ile)
|
rs886043193
|
|
NM_000023.4(SGCA):c.626G>A (p.Cys209Tyr)
|
rs1555568985
|
|
NM_000023.4(SGCA):c.650A>G (p.Asp217Gly)
|
rs995113451
|
|
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)
|
rs138254713
|
|
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)
|
rs886044540
|
|
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter)
|
rs1567741398
|
|
NM_000023.4(SGCA):c.68C>A (p.Ala23Asp)
|
|
|
NM_000023.4(SGCA):c.747+161AC[17]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+161AC[18]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+161AC[19]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+161AC[20]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+161AC[21]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+161AC[22]
|
rs3138607
|
|
NM_000023.4(SGCA):c.747+1G>A
|
rs886043392
|
|
NM_000023.4(SGCA):c.748-10C>A
|
rs886042777
|
|
NM_000023.4(SGCA):c.770del (p.Pro257fs)
|
rs886043962
|
|
NM_000023.4(SGCA):c.795del (p.Asp266fs)
|
rs1438874821
|
|
NM_000023.4(SGCA):c.811C>T (p.His271Tyr)
|
rs886044015
|
|
NM_000023.4(SGCA):c.85C>T (p.His29Tyr)
|
rs1555568133
|
|
NM_000023.4(SGCA):c.861G>A (p.Leu287=)
|
rs1555569293
|
|
NM_000023.4(SGCA):c.864_870del (p.Asp289fs)
|
rs2144501029
|
|
NM_000023.4(SGCA):c.882C>A (p.Leu294=)
|
rs886044216
|
|
NM_000023.4(SGCA):c.892del (p.Leu298fs)
|
rs886044512
|
|
NM_000023.4(SGCA):c.956+7G>A
|
rs1598270831
|
|
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs)
|
rs796065318
|
|
NM_000023.4(SGCA):c.983+246del
|
rs113182656
|
|
NM_000023.4(SGCA):c.988C>G (p.Gln330Glu)
|
rs886042967
|
|
NM_001135697.3(SGCA):c.584+521del
|
rs1220674950
|
|