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.189C>T (p.His63=)
|
rs373770886
|
0.00030
|
NM_000023.4(SGCA):c.662G>A (p.Arg221His)
|
rs138254713
|
0.00027
|
NM_000023.4(SGCA):c.-31T>C
|
rs199527818
|
0.00026
|
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala)
|
rs540292629
|
0.00026
|
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.172G>C (p.Val58Leu)
|
rs141953249
|
0.00017
|
NM_000023.4(SGCA):c.929A>G (p.Tyr310Cys)
|
rs145252144
|
0.00016
|
NM_000023.4(SGCA):c.-19C>T
|
rs969341162
|
0.00013
|
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.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.1051C>T (p.Arg351Cys)
|
rs143365858
|
0.00009
|
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.983A>T (p.Asp328Val)
|
rs966135192
|
0.00008
|
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.648C>T (p.Pro216=)
|
rs758813493
|
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.1053C>T (p.Arg351=)
|
rs148373921
|
0.00004
|
NM_000023.4(SGCA):c.270C>T (p.Tyr90=)
|
rs749205073
|
0.00004
|
NM_000023.4(SGCA):c.466C>T (p.Arg156Cys)
|
rs538696245
|
0.00004
|
NM_000023.4(SGCA):c.467G>A (p.Arg156His)
|
rs558473298
|
0.00004
|
NM_000023.4(SGCA):c.582A>C (p.Glu194Asp)
|
rs199791980
|
0.00004
|
NM_000023.4(SGCA):c.869C>T (p.Ala290Val)
|
rs373312721
|
0.00004
|
NM_000023.4(SGCA):c.90A>G (p.Pro30=)
|
rs754840688
|
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.221G>A (p.Arg74Gln)
|
rs779439298
|
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.522C>T (p.Asn174=)
|
rs148960833
|
0.00003
|
NM_000023.4(SGCA):c.551G>A (p.Arg184His)
|
rs142169382
|
0.00003
|
NM_000023.4(SGCA):c.58G>T (p.Asp20Tyr)
|
rs759284746
|
0.00003
|
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.199C>G (p.Gln67Glu)
|
rs753180048
|
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.312+5C>T
|
rs377006294
|
0.00002
|
NM_000023.4(SGCA):c.402C>T (p.Tyr134=)
|
rs780264754
|
0.00002
|
NM_000023.4(SGCA):c.58G>A (p.Asp20Asn)
|
rs759284746
|
0.00002
|
NM_000023.4(SGCA):c.724G>A (p.Val242Ile)
|
rs200166783
|
0.00002
|
NM_000023.4(SGCA):c.*12+2T>C
|
rs1297436069
|
0.00001
|
NM_000023.4(SGCA):c.-18G>A
|
rs115380008
|
0.00001
|
NM_000023.4(SGCA):c.-28C>T
|
rs754969463
|
0.00001
|
NM_000023.4(SGCA):c.1015G>A (p.Gly339Arg)
|
rs540254057
|
0.00001
|
NM_000023.4(SGCA):c.1034G>A (p.Arg345Gln)
|
rs771876078
|
0.00001
|
NM_000023.4(SGCA):c.1052G>A (p.Arg351His)
|
rs765429436
|
0.00001
|
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln)
|
rs1270625423
|
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.1136A>G (p.Gln379Arg)
|
rs930871528
|
0.00001
|
NM_000023.4(SGCA):c.1159C>T (p.His387Tyr)
|
rs1905861368
|
0.00001
|
NM_000023.4(SGCA):c.131C>T (p.Thr44Met)
|
rs770516658
|
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.289G>C (p.Asp97His)
|
rs774299871
|
0.00001
|
NM_000023.4(SGCA):c.354G>A (p.Gln118=)
|
rs772233387
|
0.00001
|
NM_000023.4(SGCA):c.37+3A>G
|
rs1370709181
|
0.00001
|
NM_000023.4(SGCA):c.422G>A (p.Arg141His)
|
rs1325350236
|
0.00001
|
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn)
|
rs771485989
|
0.00001
|
NM_000023.4(SGCA):c.442G>A (p.Val148Met)
|
rs1288174276
|
0.00001
|
NM_000023.4(SGCA):c.485G>A (p.Gly162Glu)
|
rs954971361
|
0.00001
|
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala)
|
rs1356585975
|
0.00001
|
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg)
|
rs199810179
|
0.00001
|
NM_000023.4(SGCA):c.506A>T (p.Glu169Val)
|
rs376376394
|
0.00001
|
NM_000023.4(SGCA):c.555C>A (p.Val185=)
|
rs201518390
|
0.00001
|
NM_000023.4(SGCA):c.591C>T (p.Tyr197=)
|
rs756137267
|
0.00001
|
NM_000023.4(SGCA):c.592A>G (p.Ile198Val)
|
rs375463037
|
0.00001
|
NM_000023.4(SGCA):c.649G>A (p.Asp217Asn)
|
rs780564461
|
0.00001
|
NM_000023.4(SGCA):c.64G>A (p.Glu22Lys)
|
rs753784732
|
0.00001
|
NM_000023.4(SGCA):c.658G>A (p.Ala220Thr)
|
rs958974999
|
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.708G>C (p.Leu236Phe)
|
rs1483510494
|
0.00001
|
NM_000023.4(SGCA):c.716A>G (p.His239Arg)
|
rs398123099
|
0.00001
|
NM_000023.4(SGCA):c.721C>T (p.Arg241Cys)
|
rs753972912
|
0.00001
|
NM_000023.4(SGCA):c.737A>G (p.Asn246Ser)
|
rs886042858
|
0.00001
|
NM_000023.4(SGCA):c.747+3G>A
|
rs368388538
|
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.851G>A (p.Arg284His)
|
rs369359375
|
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.974C>T (p.Ala325Val)
|
rs780200261
|
0.00001
|
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
|
|
|
NC_000017.10:g.(?_48252608)_(48253303_?)del
|
|
|
NM_000023.4(SGCA):c.-5C>G
|
rs776195527
|
|
NM_000023.4(SGCA):c.1001A>G (p.His334Arg)
|
|
|
NM_000023.4(SGCA):c.1007_1009dup (p.Thr336dup)
|
rs2144511791
|
|
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr)
|
rs1353699486
|
|
NM_000023.4(SGCA):c.103G>A (p.Val35Ile)
|
|
|
NM_000023.4(SGCA):c.1041G>A (p.Met347Ile)
|
|
|
NM_000023.4(SGCA):c.1043C>T (p.Ala348Val)
|
|
|
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln)
|
rs763372958
|
|
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
|
|
|
NM_000023.4(SGCA):c.106T>G (p.Phe36Val)
|
rs1904989565
|
|
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe)
|
rs1173172749
|
|
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu)
|
rs1905851242
|
|
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
|
|
|
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
|
|
|
NM_000023.4(SGCA):c.111G>A (p.Val37=)
|
rs1567738869
|
|
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly)
|
rs1376381665
|
|
NM_000023.4(SGCA):c.1147A>G (p.Ile383Val)
|
|
|
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
|
|
|
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs)
|
rs1487379783
|
|
NM_000023.4(SGCA):c.13C>G (p.Leu5Val)
|
rs2144488329
|
|
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
|
|
|
NM_000023.4(SGCA):c.158-10C>G
|
rs746675022
|
|
NM_000023.4(SGCA):c.160G>A (p.Val54Ile)
|
rs1485826147
|
|
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
|
|
|
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr)
|
rs769778891
|
|
NM_000023.4(SGCA):c.187C>T (p.His63Tyr)
|
rs1905021704
|
|
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
|
|
|
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser)
|
rs1348067599
|
|
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu)
|
rs2144494297
|
|
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys)
|
rs398123098
|
|
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg)
|
rs1598265282
|
|
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu)
|
rs2144494380
|
|
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe)
|
rs773161308
|
|
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys)
|
rs890921874
|
|
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del)
|
rs1555568383
|
|
NM_000023.4(SGCA):c.284C>G (p.Pro95Arg)
|
rs1905033797
|
|
NM_000023.4(SGCA):c.285AGA[1] (p.Glu96del)
|
rs1555568389
|
|
NM_000023.4(SGCA):c.286G>A (p.Glu96Lys)
|
|
|
NM_000023.4(SGCA):c.28C>T (p.Leu10Phe)
|
|
|
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro)
|
rs137852621
|
|
NM_000023.4(SGCA):c.304G>A (p.Val102Ile)
|
rs1266940329
|
|
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
|
|
|
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr)
|
rs1161291343
|
|
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys)
|
rs2144494625
|
|
NM_000023.4(SGCA):c.312+11G>A
|
|
|
NM_000023.4(SGCA):c.312G>A (p.Glu104=)
|
rs886044401
|
|
NM_000023.4(SGCA):c.313-3C>T
|
rs1905060607
|
|
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
|
|
|
NM_000023.4(SGCA):c.333C>A (p.Asp111Glu)
|
rs1905064323
|
|
NM_000023.4(SGCA):c.33C>T (p.Leu11=)
|
rs762704751
|
|
NM_000023.4(SGCA):c.341A>C (p.Asp114Ala)
|
rs749097695
|
|
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+5G>T
|
|
|
NM_000023.4(SGCA):c.37+6T>C
|
rs751466815
|
|
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn)
|
rs1905070029
|
|
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
|
|
|
NM_000023.4(SGCA):c.385+5C>T
|
|
|
NM_000023.4(SGCA):c.385G>A (p.Gly129Ser)
|
rs886042692
|
|
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
|
|
|
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter)
|
rs780264754
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
|
|
|
NM_000023.4(SGCA):c.434C>A (p.Ala145Glu)
|
rs372046855
|
|
NM_000023.4(SGCA):c.436G>C (p.Glu146Gln)
|
rs1555568758
|
|
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
|
|
|
NM_000023.4(SGCA):c.450C>T (p.Pro150=)
|
rs886042559
|
|
NM_000023.4(SGCA):c.461C>T (p.Ala154Val)
|
rs957820595
|
|
NM_000023.4(SGCA):c.465C>G (p.Ser155Arg)
|
rs2144496691
|
|
NM_000023.4(SGCA):c.466C>A (p.Arg156Ser)
|
|
|
NM_000023.4(SGCA):c.468C>T (p.Arg156=)
|
rs750297310
|
|
NM_000023.4(SGCA):c.483G>C (p.Leu161Phe)
|
|
|
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp)
|
rs1555568788
|
|
NM_000023.4(SGCA):c.484G>T (p.Gly162Trp)
|
|
|
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp)
|
rs1598267318
|
|
NM_000023.4(SGCA):c.498G>T (p.Glu166Asp)
|
|
|
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg)
|
rs573792379
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NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
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NM_000023.4(SGCA):c.52C>G (p.Leu18Val)
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rs1555568100
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NM_000023.4(SGCA):c.541C>A (p.Arg181Ser)
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rs574376340
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NM_000023.4(SGCA):c.541C>T (p.Arg181Cys)
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rs574376340
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NM_000023.4(SGCA):c.542G>A (p.Arg181His)
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NM_000023.4(SGCA):c.542G>T (p.Arg181Leu)
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rs746412103
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NM_000023.4(SGCA):c.548G>T (p.Gly183Val)
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rs773107290
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NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
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NM_000023.4(SGCA):c.559C>T (p.Leu187Phe)
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rs886044382
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NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
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NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
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NM_000023.4(SGCA):c.585-8G>A
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rs1567741108
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NM_000023.4(SGCA):c.586G>A (p.Val196Ile)
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rs752695991
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NM_000023.4(SGCA):c.586G>T (p.Val196Leu)
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rs752695991
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NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del)
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rs1555568966
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NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
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NM_000023.4(SGCA):c.614C>T (p.Pro205Leu)
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rs757481230
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NM_000023.4(SGCA):c.622A>G (p.Thr208Ala)
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rs1555568984
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NM_000023.4(SGCA):c.623C>T (p.Thr208Ile)
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rs886043193
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NM_000023.4(SGCA):c.626G>A (p.Cys209Tyr)
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rs1555568985
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NM_000023.4(SGCA):c.635T>A (p.Met212Lys)
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rs2144498202
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NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
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NM_000023.4(SGCA):c.643T>C (p.Ser215Pro)
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rs76542495
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NM_000023.4(SGCA):c.644C>T (p.Ser215Phe)
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rs750844090
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NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
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NM_000023.4(SGCA):c.650A>G (p.Asp217Gly)
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rs995113451
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NM_000023.4(SGCA):c.653G>A (p.Ser218Asn)
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NM_000023.4(SGCA):c.662G>C (p.Arg221Pro)
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rs138254713
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NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
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NM_000023.4(SGCA):c.674G>A (p.Gly225Asp)
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rs886044540
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NM_000023.4(SGCA):c.675C>T (p.Gly225=)
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rs773985328
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NM_000023.4(SGCA):c.68C>A (p.Ala23Asp)
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NM_000023.4(SGCA):c.690G>A (p.Leu230=)
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rs139454982
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NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr)
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rs2144498403
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NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)
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NM_000023.4(SGCA):c.718T>G (p.Phe240Val)
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rs1555569031
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NM_000023.4(SGCA):c.722G>A (p.Arg241His)
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NM_000023.4(SGCA):c.727G>A (p.Asp243Asn)
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rs1555569038
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NM_000023.4(SGCA):c.730T>A (p.Trp244Arg)
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NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
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NM_000023.4(SGCA):c.748-10C>A
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rs886042777
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NM_000023.4(SGCA):c.748-11_748-10delinsAA
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rs2144500582
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NM_000023.4(SGCA):c.748G>T (p.Val250Leu)
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rs1473539605
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NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
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NM_000023.4(SGCA):c.750G>A (p.Val250=)
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NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
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NM_000023.4(SGCA):c.772G>T (p.Ala258Ser)
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rs934936899
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NM_000023.4(SGCA):c.781G>A (p.Val261Met)
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rs754703769
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NM_000023.4(SGCA):c.781G>T (p.Val261Leu)
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rs754703769
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NM_000023.4(SGCA):c.784C>T (p.Pro262Ser)
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NM_000023.4(SGCA):c.811C>T (p.His271Tyr)
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rs886044015
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NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del)
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rs750086289
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NM_000023.4(SGCA):c.829C>T (p.Pro277Ser)
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rs2144500932
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NM_000023.4(SGCA):c.842C>T (p.Ala281Val)
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rs1905262104
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NM_000023.4(SGCA):c.850C>G (p.Arg284Gly)
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rs137852623
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NM_000023.4(SGCA):c.85C>T (p.His29Tyr)
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rs1555568133
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NM_000023.4(SGCA):c.861G>A (p.Leu287=)
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rs1555569293
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NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del)
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rs1555569303
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NM_000023.4(SGCA):c.882C>A (p.Leu294=)
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rs886044216
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NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
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NM_000023.4(SGCA):c.929_930del (p.Tyr310fs)
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rs1555569329
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NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
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NM_000023.4(SGCA):c.956+14T>C
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NM_000023.4(SGCA):c.956+7G>A
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rs1598270831
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NM_000023.4(SGCA):c.958C>T (p.Leu320=)
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rs1905303889
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NM_000023.4(SGCA):c.969C>A (p.Asp323Glu)
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rs1309107612
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NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)
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NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
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NM_000023.4(SGCA):c.988C>G (p.Gln330Glu)
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rs886042967
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NM_000023.4(SGCA):c.994G>T (p.Val332Phe)
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