ClinVar Miner

List of variants in gene SGCA studied for limb-girdle muscular dystrophy

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 669
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000023.4(SGCA):c.37+66C>T rs9911548 0.99075
NM_000023.4(SGCA):c.*6T>C rs2696288 0.91073
NM_000023.4(SGCA):c.312+83C>T rs2696297 0.83281
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.528C>T (p.Thr176=) rs1801190 0.00912
NM_000023.4(SGCA):c.*10C>G rs60300808 0.00619
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899 0.00555
NM_000023.4(SGCA):c.-8G>A rs149296410 0.00248
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.1047C>T (p.Ala349=) rs199518562 0.00038
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.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.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.816C>G (p.Asp272Glu) rs530646204 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.957-6C>T rs1406175539 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.585-33A>C rs1451479850 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000023.4(SGCA):c.699C>T (p.Tyr233=) rs201860673 0.00005
NM_000023.4(SGCA):c.789C>A (p.Thr263=) rs769688229 0.00005
NM_000023.4(SGCA):c.978C>T (p.Thr326=) rs747187312 0.00005
NM_000023.4(SGCA):c.1053C>T (p.Arg351=) rs148373921 0.00004
NM_000023.4(SGCA):c.1155C>T (p.Asp385=) rs183964744 0.00004
NM_000023.4(SGCA):c.158-12C>T rs377120535 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.584+17A>G rs371673068 0.00004
NM_000023.4(SGCA):c.765G>A (p.Pro255=) rs376216559 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.157+7G>A rs965018395 0.00003
NM_000023.4(SGCA):c.158-4C>A rs776411719 0.00003
NM_000023.4(SGCA):c.221G>A (p.Arg74Gln) rs779439298 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.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.100C>T (p.Arg34Cys) rs758647756 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.37+8G>A rs754950929 0.00002
NM_000023.4(SGCA):c.402C>T (p.Tyr134=) rs780264754 0.00002
NM_000023.4(SGCA):c.445C>T (p.Leu149=) rs1197751622 0.00002
NM_000023.4(SGCA):c.546G>A (p.Gly182=) rs765026954 0.00002
NM_000023.4(SGCA):c.584+13C>A rs565224729 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.1011C>T (p.Ile337=) rs1209145667 0.00001
NM_000023.4(SGCA):c.1014C>T (p.His338=) rs1273697097 0.00001
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.1034G>A (p.Arg345Gln) rs771876078 0.00001
NM_000023.4(SGCA):c.1035G>A (p.Arg345=) rs374989747 0.00001
NM_000023.4(SGCA):c.1064G>A (p.Arg355Gln) rs1270625423 0.00001
NM_000023.4(SGCA):c.1083C>T (p.Pro361=) rs763883513 0.00001
NM_000023.4(SGCA):c.108T>C (p.Phe36=) rs755416307 0.00001
NM_000023.4(SGCA):c.1104T>C (p.Gly368=) rs778379427 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.1128C>T (p.Asp376=) rs748132102 0.00001
NM_000023.4(SGCA):c.1131C>T (p.Ser377=) rs769951787 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.147T>C (p.Pro49=) rs745447270 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.177C>T (p.His59=) rs199902950 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.312+19A>C rs527959287 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.313-5C>T rs200973744 0.00001
NM_000023.4(SGCA):c.354G>A (p.Gln118=) rs772233387 0.00001
NM_000023.4(SGCA):c.37+17T>A rs1231057453 0.00001
NM_000023.4(SGCA):c.37+3A>G rs1370709181 0.00001
NM_000023.4(SGCA):c.38-7C>T rs769272010 0.00001
NM_000023.4(SGCA):c.38-8C>T rs908186145 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.422G>A (p.Arg141His) rs1325350236 0.00001
NM_000023.4(SGCA):c.429C>T (p.His143=) rs763446303 0.00001
NM_000023.4(SGCA):c.430G>A (p.Asp144Asn) rs771485989 0.00001
NM_000023.4(SGCA):c.432T>C (p.Asp144=) rs774960107 0.00001
NM_000023.4(SGCA):c.435G>A (p.Ala145=) rs763694408 0.00001
NM_000023.4(SGCA):c.442G>A (p.Val148Met) rs1288174276 0.00001
NM_000023.4(SGCA):c.471C>T (p.Phe157=) rs758384359 0.00001
NM_000023.4(SGCA):c.488G>C (p.Gly163Ala) rs1356585975 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.501C>T (p.Pro167=) rs754962516 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.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.543T>A (p.Arg181=) rs776214016 0.00001
NM_000023.4(SGCA):c.549C>T (p.Gly183=) rs1300286751 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.580G>T (p.Glu194Ter) rs1057516664 0.00001
NM_000023.4(SGCA):c.584+10C>T rs937459293 0.00001
NM_000023.4(SGCA):c.584+16T>C rs1054945327 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 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.600G>A (p.Val200=) rs764188161 0.00001
NM_000023.4(SGCA):c.63C>T (p.Thr21=) rs775361706 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.705C>T (p.Thr235=) rs1291296598 0.00001
NM_000023.4(SGCA):c.708G>C (p.Leu236Phe) rs1483510494 0.00001
NM_000023.4(SGCA):c.711A>C (p.Ala237=) rs1207297075 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.72G>A (p.Gln24=) rs1904984718 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.748-2A>T rs1412537279 0.00001
NM_000023.4(SGCA):c.748-3C>T rs794727834 0.00001
NM_000023.4(SGCA):c.748-5T>G rs1905249571 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.849C>T (p.Asp283=) rs764545490 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.864G>C (p.Val288=) rs1244830971 0.00001
NM_000023.4(SGCA):c.87C>T (p.His29=) rs757371081 0.00001
NM_000023.4(SGCA):c.894G>C (p.Leu298=) rs182535883 0.00001
NM_000023.4(SGCA):c.89C>T (p.Pro30Leu) rs886043256 0.00001
NM_000023.4(SGCA):c.956+21C>T rs367690233 0.00001
NM_000023.4(SGCA):c.956+8T>C rs538839531 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
NM_000023.4(SGCA):c.996C>A (p.Val332=) rs777162824 0.00001
GRCh37/hg19 17q21.33(chr17:48247452-48247763)x0
GRCh38/hg38 17q21.33(chr17:50169242-50170421)x0
NC_000017.10:g.(?_48243138)_(48245027_?)del
NC_000017.10:g.(?_48243138)_48245027del
NC_000017.10:g.(?_48243336)_(48246625_?)del
NC_000017.10:g.(?_48243336)_(48253303_?)del
NC_000017.10:g.(?_48252608)_(48253303_?)del
NM_000023.2(SGCA):c.586delG rs1220674950
NM_000023.4(SGCA):c.-1_9del (p.Met1fs) rs1057517107
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.100C>A (p.Arg34Ser) rs758647756
NM_000023.4(SGCA):c.1010T>C (p.Ile337Thr) rs1353699486
NM_000023.4(SGCA):c.1011C>A (p.Ile337=) rs1209145667
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1033C>A (p.Arg345=)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
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.1044G>A (p.Ala348=) rs768722155
NM_000023.4(SGCA):c.1044G>T (p.Ala348=)
NM_000023.4(SGCA):c.1047C>G (p.Ala349=) rs199518562
NM_000023.4(SGCA):c.1052del (p.Arg351fs)
NM_000023.4(SGCA):c.1054G>C (p.Glu352Gln) rs763372958
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.105del (p.Phe36fs) rs2144493323
NM_000023.4(SGCA):c.1062C>G (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1062C>T (p.Pro354=) rs1905845398
NM_000023.4(SGCA):c.1067C>G (p.Pro356Arg)
NM_000023.4(SGCA):c.1068A>G (p.Pro356=)
NM_000023.4(SGCA):c.106T>G (p.Phe36Val) rs1904989565
NM_000023.4(SGCA):c.1071C>T (p.Leu357=)
NM_000023.4(SGCA):c.1073C>T (p.Ser358Phe) rs1173172749
NM_000023.4(SGCA):c.1074C>T (p.Ser358=)
NM_000023.4(SGCA):c.1078C>T (p.Leu360=)
NM_000023.4(SGCA):c.1080G>A (p.Leu360=)
NM_000023.4(SGCA):c.1092T>C (p.Asn364=)
NM_000023.4(SGCA):c.1093G>C (p.Val365Leu) rs1905851242
NM_000023.4(SGCA):c.1098C>T (p.His366=) rs2144512069
NM_000023.4(SGCA):c.1105G>A (p.Glu369Lys)
NM_000023.4(SGCA):c.1108C>A (p.Arg370=) rs368243053
NM_000023.4(SGCA):c.1114C>T (p.Pro372Ser)
NM_000023.4(SGCA):c.1119C>T (p.Pro373=) rs1905853639
NM_000023.4(SGCA):c.1122C>T (p.Arg374=) rs2144512151
NM_000023.4(SGCA):c.1125G>A (p.Val375=) rs2144512161
NM_000023.4(SGCA):c.1129A>G (p.Ser377Gly) rs1376381665
NM_000023.4(SGCA):c.1134C>A (p.Ala378=) rs1235150688
NM_000023.4(SGCA):c.1146C>T (p.Leu382=) rs1263910576
NM_000023.4(SGCA):c.1148T>A (p.Ile383Asn)
NM_000023.4(SGCA):c.1153_1163del (p.Asp385fs) rs1487379783
NM_000023.4(SGCA):c.1163G>A (p.Ter388=) rs2144512285
NM_000023.4(SGCA):c.118T>C (p.Leu40=) rs1598264597
NM_000023.4(SGCA):c.119del (p.Leu40fs)
NM_000023.4(SGCA):c.129G>A (p.Glu43=) rs2144493407
NM_000023.4(SGCA):c.132G>C (p.Thr44=)
NM_000023.4(SGCA):c.132G>T (p.Thr44=)
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.138G>A (p.Leu46=)
NM_000023.4(SGCA):c.13C>G (p.Leu5Val) rs2144488329
NM_000023.4(SGCA):c.141C>T (p.Ser47=) rs1336059898
NM_000023.4(SGCA):c.157+15A>C
NM_000023.4(SGCA):c.157+16G>C
NM_000023.4(SGCA):c.157+20C>A
NM_000023.4(SGCA):c.157+2T>G
NM_000023.4(SGCA):c.157G>T (p.Ala53Ser)
NM_000023.4(SGCA):c.158-10C>G rs746675022
NM_000023.4(SGCA):c.158-11G>T
NM_000023.4(SGCA):c.158-2A>G rs1057516300
NM_000023.4(SGCA):c.158-7C>T rs2144493874
NM_000023.4(SGCA):c.160G>A (p.Val54Ile) rs1485826147
NM_000023.4(SGCA):c.163_164del (p.Pro55fs)
NM_000023.4(SGCA):c.164C>T (p.Pro55Leu)
NM_000023.4(SGCA):c.168C>T (p.Pro56=) rs1193836259
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.169G>A (p.Ala57Thr) rs769778891
NM_000023.4(SGCA):c.171T>C (p.Ala57=) rs2144493974
NM_000023.4(SGCA):c.174C>T (p.Val58=) rs1167800537
NM_000023.4(SGCA):c.183C>T (p.Thr61=) rs2144494064
NM_000023.4(SGCA):c.183dup (p.Tyr62fs) rs886044688
NM_000023.4(SGCA):c.186C>A (p.Tyr62Ter)
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.187C>T (p.His63Tyr) rs1905021704
NM_000023.4(SGCA):c.18C>T (p.Phe6=) rs2144488335
NM_000023.4(SGCA):c.194A>C (p.His65Pro)
NM_000023.4(SGCA):c.195C>T (p.His65=)
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.201G>A (p.Gln67=)
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) rs2144494148
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.208C>T (p.Pro70Ser) rs1348067599
NM_000023.4(SGCA):c.209C>G (p.Pro70Arg) rs1555568318
NM_000023.4(SGCA):c.20G>A (p.Trp7Ter)
NM_000023.4(SGCA):c.212A>T (p.Asp71Val)
NM_000023.4(SGCA):c.217C>T (p.Pro73Ser)
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
NM_000023.4(SGCA):c.220del (p.Arg74fs) rs1555568325
NM_000023.4(SGCA):c.221G>C (p.Arg74Pro) rs779439298
NM_000023.4(SGCA):c.225del (p.Trp75fs)
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.231C>A (p.Arg77=) rs1395463052
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) rs1598265248
NM_000023.4(SGCA):c.234C>T (p.Tyr78=) rs1567739328
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.237C>G (p.Thr79=)
NM_000023.4(SGCA):c.238C>G (p.Gln80Glu) rs2144494297
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter) rs2144494297
NM_000023.4(SGCA):c.240G>A (p.Gln80=)
NM_000023.4(SGCA):c.241C>A (p.Arg81Ser) rs398123098
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.243C>T (p.Arg81=)
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.246C>T (p.Ser82=) rs1598265282
NM_000023.4(SGCA):c.250dup (p.His84fs)
NM_000023.4(SGCA):c.257C>T (p.Pro86Leu) rs2144494380
NM_000023.4(SGCA):c.262_269dup (p.Gly91fs)
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe) rs773161308
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
NM_000023.4(SGCA):c.26dup (p.Leu10fs) rs1904771410
NM_000023.4(SGCA):c.270C>G (p.Tyr90Ter)
NM_000023.4(SGCA):c.271G>A (p.Gly91Ser)
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.285A>G (p.Pro95=)
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.290A>G (p.Asp97Gly) rs1555568396
NM_000023.4(SGCA):c.291T>C (p.Asp97=)
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly) rs138945081
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro) rs137852621
NM_000023.4(SGCA):c.296G>A (p.Gly99Glu)
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
NM_000023.4(SGCA):c.300C>G (p.Leu100=)
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.307A>T (p.Ile103Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.30C>G (p.Leu10=)
NM_000023.4(SGCA):c.310G>A (p.Glu104Lys) rs2144494625
NM_000023.4(SGCA):c.312+10G>A rs1905041121
NM_000023.4(SGCA):c.312+11G>A
NM_000023.4(SGCA):c.312+16del
NM_000023.4(SGCA):c.312+18G>A
NM_000023.4(SGCA):c.312+1G>A rs2144494642
NM_000023.4(SGCA):c.312+1G>C rs2144494642
NM_000023.4(SGCA):c.312+8dup
NM_000023.4(SGCA):c.312G>A (p.Glu104=) rs886044401
NM_000023.4(SGCA):c.313-17T>G
NM_000023.4(SGCA):c.313-18G>A
NM_000023.4(SGCA):c.313-18G>T
NM_000023.4(SGCA):c.313-19T>G
NM_000023.4(SGCA):c.313-3C>T rs1905060607
NM_000023.4(SGCA):c.313-4C>T rs2144495185
NM_000023.4(SGCA):c.313-5C>G
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.315C>G (p.Val105=)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.319G>A (p.Ala107Thr)
NM_000023.4(SGCA):c.321C>T (p.Ala107=)
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.329G>T (p.Arg110Leu)
NM_000023.4(SGCA):c.330G>A (p.Arg110=) rs2144495293
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.342T>C (p.Asp114=)
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.351G>A (p.Arg117=) rs2144495376
NM_000023.4(SGCA):c.363G>A (p.Val121=)
NM_000023.4(SGCA):c.364C>G (p.Leu122Val) rs1567739857
NM_000023.4(SGCA):c.366G>C (p.Leu122=)
NM_000023.4(SGCA):c.37+11G>A
NM_000023.4(SGCA):c.37+1G>A
NM_000023.4(SGCA):c.37+1G>C rs111386656
NM_000023.4(SGCA):c.37+1G>T
NM_000023.4(SGCA):c.37+20A>G
NM_000023.4(SGCA):c.37+2C>G rs112500642
NM_000023.4(SGCA):c.37+3A>T
NM_000023.4(SGCA):c.37+5G>T
NM_000023.4(SGCA):c.37+6T>C rs751466815
NM_000023.4(SGCA):c.37+9G>T rs2144488503
NM_000023.4(SGCA):c.376G>A (p.Asp126Asn) rs1905070029
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.37G>A (p.Val13Ile)
NM_000023.4(SGCA):c.38-10G>A rs2144492975
NM_000023.4(SGCA):c.38-14T>C
NM_000023.4(SGCA):c.38-14del
NM_000023.4(SGCA):c.38-46G>C rs142537375
NM_000023.4(SGCA):c.385+10G>A
NM_000023.4(SGCA):c.385+11C>T
NM_000023.4(SGCA):c.385+15G>A
NM_000023.4(SGCA):c.385+16C>T
NM_000023.4(SGCA):c.385+17C>T
NM_000023.4(SGCA):c.385+1G>T
NM_000023.4(SGCA):c.385+2T>C
NM_000023.4(SGCA):c.385+5C>T
NM_000023.4(SGCA):c.385+7C>G rs2144495517
NM_000023.4(SGCA):c.385+8T>C rs1905072495
NM_000023.4(SGCA):c.386-13C>T
NM_000023.4(SGCA):c.386-16del rs556088617
NM_000023.4(SGCA):c.386-17C>T
NM_000023.4(SGCA):c.386-18T>A
NM_000023.4(SGCA):c.386-19G>A
NM_000023.4(SGCA):c.386-1G>A
NM_000023.4(SGCA):c.386-8C>G
NM_000023.4(SGCA):c.386-9C>G
NM_000023.4(SGCA):c.386-9C>T rs1905100056
NM_000023.4(SGCA):c.388C>T (p.Pro130Ser)
NM_000023.4(SGCA):c.390C>G (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.390C>T (p.Pro130=) rs932963471
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.391dup (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.393G>A (p.Leu131=)
NM_000023.4(SGCA):c.393G>C (p.Leu131=) rs758472374
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter) rs780264754
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.408C>G (p.Ala136=) rs143551687
NM_000023.4(SGCA):c.408del (p.Glu137fs) rs1905103030
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.409G>T (p.Glu137Ter)
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) rs397514451
NM_000023.4(SGCA):c.417G>T (p.Leu139=) rs375282807
NM_000023.4(SGCA):c.421C>T (p.Arg141Cys)
NM_000023.4(SGCA):c.423C>T (p.Arg141=) rs2144496522
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.438G>A (p.Glu146=) rs1336182341
NM_000023.4(SGCA):c.441G>A (p.Glu147=) rs1211942968
NM_000023.4(SGCA):c.444G>A (p.Val148=) rs1598267119
NM_000023.4(SGCA):c.448C>A (p.Pro150Thr)
NM_000023.4(SGCA):c.453A>G (p.Ser151=)
NM_000023.4(SGCA):c.45G>C (p.Leu15=) rs2144493029
NM_000023.4(SGCA):c.461C>T (p.Ala154Val) rs957820595
NM_000023.4(SGCA):c.462C>A (p.Ala154=)
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
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>G (p.Arg156=)
NM_000023.4(SGCA):c.468C>T (p.Arg156=) rs750297310
NM_000023.4(SGCA):c.472C>T (p.Leu158Phe) rs2144496721
NM_000023.4(SGCA):c.474C>G (p.Leu158=) rs2144496728
NM_000023.4(SGCA):c.480C>G (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.480C>T (p.Ala160=) rs2144496738
NM_000023.4(SGCA):c.480_481del (p.Leu161fs) rs1057517142
NM_000023.4(SGCA):c.481T>C (p.Leu161=)
NM_000023.4(SGCA):c.483_484delinsCT (p.Leu161_Gly162delinsPheTrp) rs1555568788
NM_000023.4(SGCA):c.486G>A (p.Gly162=) rs1598267271
NM_000023.4(SGCA):c.488_489delinsT (p.Gly163fs)
NM_000023.4(SGCA):c.488del (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.489A>G (p.Gly163=) rs1198477143
NM_000023.4(SGCA):c.489A>T (p.Gly163=)
NM_000023.4(SGCA):c.498G>A (p.Glu166=) rs1598267318
NM_000023.4(SGCA):c.498G>C (p.Glu166Asp) rs1598267318
NM_000023.4(SGCA):c.49G>A (p.Gly17Arg) rs573792379
NM_000023.4(SGCA):c.511C>T (p.Gln171Ter) rs1057516242
NM_000023.4(SGCA):c.516G>C (p.Leu172=) rs2144496890
NM_000023.4(SGCA):c.519C>T (p.Leu173=) rs1905118125
NM_000023.4(SGCA):c.523G>A (p.Val175Ile)
NM_000023.4(SGCA):c.524T>C (p.Val175Ala) rs137852622
NM_000023.4(SGCA):c.525C>A (p.Val175=) rs1169044148
NM_000023.4(SGCA):c.52C>G (p.Leu18Val) rs1555568100
NM_000023.4(SGCA):c.535T>C (p.Leu179=)
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.542G>A (p.Arg181His)
NM_000023.4(SGCA):c.542G>T (p.Arg181Leu) rs746412103
NM_000023.4(SGCA):c.548G>T (p.Gly183Val) rs773107290
NM_000023.4(SGCA):c.550C>T (p.Arg184Cys)
NM_000023.4(SGCA):c.558_559del (p.Leu187fs)
NM_000023.4(SGCA):c.559del (p.Leu187fs) rs1057516888
NM_000023.4(SGCA):c.56G>A (p.Gly19Glu)
NM_000023.4(SGCA):c.57G>A (p.Gly19=) rs2144493078
NM_000023.4(SGCA):c.582dup (p.Gly195fs)
NM_000023.4(SGCA):c.584+10C>A
NM_000023.4(SGCA):c.584+10C>G rs937459293
NM_000023.4(SGCA):c.584+11A>C
NM_000023.4(SGCA):c.584+18G>A
NM_000023.4(SGCA):c.584+19A>C
NM_000023.4(SGCA):c.584+1G>A rs2144497138
NM_000023.4(SGCA):c.584+1del rs1555568876
NM_000023.4(SGCA):c.584+20G>A
NM_000023.4(SGCA):c.584+5G>A
NM_000023.4(SGCA):c.584+9G>A
NM_000023.4(SGCA):c.584G>T (p.Gly195Val)
NM_000023.4(SGCA):c.585-12A>G
NM_000023.4(SGCA):c.585-23C>T
NM_000023.4(SGCA):c.585-27C>T
NM_000023.4(SGCA):c.585-27del
NM_000023.4(SGCA):c.585-28G>A
NM_000023.4(SGCA):c.585-29T>G
NM_000023.4(SGCA):c.585-2A>C rs1555568965
NM_000023.4(SGCA):c.585-2A>T rs1555568965
NM_000023.4(SGCA):c.585-30C>G
NM_000023.4(SGCA):c.585-32C>A
NM_000023.4(SGCA):c.585-33A>G
NM_000023.4(SGCA):c.585-5_585-4delinsTG rs2144498044
NM_000023.4(SGCA):c.586G>A (p.Val196Ile) rs752695991
NM_000023.4(SGCA):c.586G>T (p.Val196Leu) rs752695991
NM_000023.4(SGCA):c.588_599del (p.Tyr197_Val200del) rs1555568966
NM_000023.4(SGCA):c.594T>C (p.Ile198=) rs2144498108
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.597G>A (p.Lys199=) rs1304471544
NM_000023.4(SGCA):c.601G>A (p.Gly201Ser) rs2144498121
NM_000023.4(SGCA):c.602G>A (p.Gly201Asp) rs2144498132
NM_000023.4(SGCA):c.603T>C (p.Gly201=)
NM_000023.4(SGCA):c.608C>T (p.Ala203Val)
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.615T>G (p.Pro205=)
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
NM_000023.4(SGCA):c.61_62insG (p.Thr21fs) rs2144493097
NM_000023.4(SGCA):c.622A>G (p.Thr208Ala) rs1555568984
NM_000023.4(SGCA):c.623C>T (p.Thr208Ile) rs886043193
NM_000023.4(SGCA):c.627C>T (p.Cys209=)
NM_000023.4(SGCA):c.633G>A (p.Lys211=) rs2144498199
NM_000023.4(SGCA):c.635T>A (p.Met212Lys) rs2144498202
NM_000023.4(SGCA):c.635T>C (p.Met212Thr)
NM_000023.4(SGCA):c.643T>C (p.Ser215Pro) rs76542495
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.645C>G (p.Ser215=)
NM_000023.4(SGCA):c.646C>T (p.Pro216Ser)
NM_000023.4(SGCA):c.651T>C (p.Asp217=) rs2144498247
NM_000023.4(SGCA):c.658_659del (p.Ala220fs) rs1905167458
NM_000023.4(SGCA):c.662G>C (p.Arg221Pro) rs138254713
NM_000023.4(SGCA):c.668C>T (p.Ala223Val)
NM_000023.4(SGCA):c.669C>T (p.Ala223=)
NM_000023.4(SGCA):c.674G>A (p.Gly225Asp) rs886044540
NM_000023.4(SGCA):c.675C>T (p.Gly225=) rs773985328
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.678G>A (p.Gln226=) rs2144498364
NM_000023.4(SGCA):c.681T>C (p.Pro227=) rs1305502363
NM_000023.4(SGCA):c.690G>A (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.695G>A (p.Cys232Tyr) rs2144498403
NM_000023.4(SGCA):c.696C>G (p.Cys232Trp)
NM_000023.4(SGCA):c.699C>G (p.Tyr233Ter)
NM_000023.4(SGCA):c.701del (p.Asp234fs)
NM_000023.4(SGCA):c.704C>T (p.Thr235Ile)
NM_000023.4(SGCA):c.706T>C (p.Leu236=)
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter) rs2144493135
NM_000023.4(SGCA):c.714C>G (p.Pro238=) rs2144498471
NM_000023.4(SGCA):c.717C>T (p.His239=) rs2144498480
NM_000023.4(SGCA):c.718T>G (p.Phe240Val) rs1555569031
NM_000023.4(SGCA):c.71del (p.Gln24fs)
NM_000023.4(SGCA):c.722G>A (p.Arg241His)
NM_000023.4(SGCA):c.723C>T (p.Arg241=) rs750636856
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.725T>C (p.Val242Ala)
NM_000023.4(SGCA):c.727G>A (p.Asp243Asn) rs1555569038
NM_000023.4(SGCA):c.731G>C (p.Trp244Ser)
NM_000023.4(SGCA):c.747+13C>G
NM_000023.4(SGCA):c.747+14C>A
NM_000023.4(SGCA):c.747+17G>A
NM_000023.4(SGCA):c.747+19T>C
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.747+20C>T
NM_000023.4(SGCA):c.747+9G>A rs1598268788
NM_000023.4(SGCA):c.747G>T (p.Leu249=) rs2144498569
NM_000023.4(SGCA):c.748-10C>A rs886042777
NM_000023.4(SGCA):c.748-11_748-10delinsAA rs2144500582
NM_000023.4(SGCA):c.748-19C>T
NM_000023.4(SGCA):c.748-6G>A
NM_000023.4(SGCA):c.748-7T>C
NM_000023.4(SGCA):c.748G>T (p.Val250Leu) rs1473539605
NM_000023.4(SGCA):c.749T>G (p.Val250Gly)
NM_000023.4(SGCA):c.750G>A (p.Val250=)
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.755del (p.Lys252fs) rs1057516548
NM_000023.4(SGCA):c.760G>T (p.Val254Leu)
NM_000023.4(SGCA):c.762G>A (p.Val254=) rs2144500656
NM_000023.4(SGCA):c.762del (p.Pro255fs)
NM_000023.4(SGCA):c.768G>A (p.Glu256=) rs2144500681
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.771T>G (p.Pro257=)
NM_000023.4(SGCA):c.772G>T (p.Ala258Ser) rs934936899
NM_000023.4(SGCA):c.780G>A (p.Glu260=)
NM_000023.4(SGCA):c.781G>A (p.Val261Met) rs754703769
NM_000023.4(SGCA):c.781G>T (p.Val261Leu) rs754703769
NM_000023.4(SGCA):c.783G>C (p.Val261=) rs1905254161
NM_000023.4(SGCA):c.786C>T (p.Pro262=) rs780981677
NM_000023.4(SGCA):c.789C>G (p.Thr263=) rs769688229
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000023.4(SGCA):c.794del (p.Gly265fs)
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.804C>T (p.Ile268=) rs1905257217
NM_000023.4(SGCA):c.805C>T (p.Leu269=)
NM_000023.4(SGCA):c.813T>C (p.His271=)
NM_000023.4(SGCA):c.819G>A (p.Pro273=) rs35972733
NM_000023.4(SGCA):c.81G>A (p.Thr27=) rs2144493184
NM_000023.4(SGCA):c.821TCT[1] (p.Phe275del) rs750086289
NM_000023.4(SGCA):c.825C>T (p.Phe275=) rs1363461236
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter) rs2144500924
NM_000023.4(SGCA):c.828C>T (p.Cys276=) rs2144500924
NM_000023.4(SGCA):c.829C>T (p.Pro277Ser) rs2144500932
NM_000023.4(SGCA):c.82C>T (p.Leu28=) rs753896716
NM_000023.4(SGCA):c.837T>C (p.Thr279=) rs775773189
NM_000023.4(SGCA):c.842C>T (p.Ala281Val) rs1905262104
NM_000023.4(SGCA):c.846_847delinsT (p.Asp283fs) rs1057516729
NM_000023.4(SGCA):c.84_90del (p.His29fs)
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000023.4(SGCA):c.85dup (p.His29fs)
NM_000023.4(SGCA):c.862del (p.Val288fs) rs2144501024
NM_000023.4(SGCA):c.867T>C (p.Asp289=) rs751156929
NM_000023.4(SGCA):c.86A>T (p.His29Leu) rs1387802849
NM_000023.4(SGCA):c.86dup (p.His29fs) rs1904986620
NM_000023.4(SGCA):c.876_887del (p.Thr293_Val296del) rs1555569303
NM_000023.4(SGCA):c.879C>A (p.Thr293=) rs1209538410
NM_000023.4(SGCA):c.882C>G (p.Leu294=) rs886044216
NM_000023.4(SGCA):c.883C>T (p.Leu295=) rs777523838
NM_000023.4(SGCA):c.88C>T (p.Pro30Ser) rs1327595249
NM_000023.4(SGCA):c.903C>T (p.Ala301=)
NM_000023.4(SGCA):c.904C>T (p.Leu302=) rs373603128
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.905T>C (p.Leu302Pro)
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) rs760989961
NM_000023.4(SGCA):c.906G>C (p.Leu302=)
NM_000023.4(SGCA):c.90A>C (p.Pro30=) rs754840688
NM_000023.4(SGCA):c.912C>T (p.Leu304=) rs965941711
NM_000023.4(SGCA):c.915C>A (p.Thr305=)
NM_000023.4(SGCA):c.915C>G (p.Thr305=)
NM_000023.4(SGCA):c.922C>T (p.Leu308=)
NM_000023.4(SGCA):c.927C>T (p.Ala309=)
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.939C>T (p.Cys313=) rs2144501264
NM_000023.4(SGCA):c.93T>G (p.Leu31=) rs1000827324
NM_000023.4(SGCA):c.945G>A (p.Arg315=)
NM_000023.4(SGCA):c.946C>T (p.Arg316Trp)
NM_000023.4(SGCA):c.948G>A (p.Arg316=) rs758785065
NM_000023.4(SGCA):c.949G>T (p.Glu317Ter) rs1555569339
NM_000023.4(SGCA):c.956+13A>C
NM_000023.4(SGCA):c.956+13A>G
NM_000023.4(SGCA):c.956+14T>C
NM_000023.4(SGCA):c.956+18G>A
NM_000023.4(SGCA):c.956+19G>A
NM_000023.4(SGCA):c.956+1G>A
NM_000023.4(SGCA):c.956+2_956+19del rs1555569342
NM_000023.4(SGCA):c.956+9G>A
NM_000023.4(SGCA):c.957-12A>G
NM_000023.4(SGCA):c.957-12A>T
NM_000023.4(SGCA):c.957-16C>T
NM_000023.4(SGCA):c.957-17C>T
NM_000023.4(SGCA):c.957-19C>T
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.957-5C>T
NM_000023.4(SGCA):c.957-6C>G
NM_000023.4(SGCA):c.957-8T>G
NM_000023.4(SGCA):c.958C>T (p.Leu320=) rs1905303889
NM_000023.4(SGCA):c.95T>C (p.Val32Ala) rs1017592342
NM_000023.4(SGCA):c.960_961insTC (p.Lys321fs)
NM_000023.4(SGCA):c.966A>G (p.Arg322=)
NM_000023.4(SGCA):c.969C>A (p.Asp323Glu) rs1309107612
NM_000023.4(SGCA):c.970C>T (p.Leu324=)
NM_000023.4(SGCA):c.975T>A (p.Ala325=) rs2144502104
NM_000023.4(SGCA):c.977C>T (p.Thr326Ile)
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000023.4(SGCA):c.983+10G>A
NM_000023.4(SGCA):c.983+10G>C rs2144502163
NM_000023.4(SGCA):c.983+11G>A
NM_000023.4(SGCA):c.983+16C>A
NM_000023.4(SGCA):c.983+16_983+17insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGGAAAGC
NM_000023.4(SGCA):c.983+18G>A
NM_000023.4(SGCA):c.983+19G>A rs1231515934
NM_000023.4(SGCA):c.983+19G>C
NM_000023.4(SGCA):c.983+1G>C
NM_000023.4(SGCA):c.983+20G>A
NM_000023.4(SGCA):c.983+22del
NM_000023.4(SGCA):c.983+5G>A
NM_000023.4(SGCA):c.984-11T>G
NM_000023.4(SGCA):c.984-12C>T
NM_000023.4(SGCA):c.984-15C>G
NM_000023.4(SGCA):c.984-20C>T
NM_000023.4(SGCA):c.984-6C>T
NM_000023.4(SGCA):c.984-8G>T
NM_000023.4(SGCA):c.985A>T (p.Ile329Phe)
NM_000023.4(SGCA):c.990G>A (p.Gln330=) rs755619226
NM_000023.4(SGCA):c.996C>T (p.Val332=) rs777162824
NM_000023.4(SGCA):c.999C>T (p.His333=) rs1330191790
NM_000023.4(SGCA):c.99C>T (p.Gly33=) rs750582302
SGCA, TYR134TER

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