ClinVar Miner

List of variants in gene SPRED1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 530
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.*2420T>C rs184024152 0.00718
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_152594.3(SPRED1):c.*3745A>G rs142928983 0.00080
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.*4472C>A rs541556786 0.00071
NM_152594.3(SPRED1):c.*4471C>A rs574232846 0.00070
NM_152594.3(SPRED1):c.*3192G>A rs566065329 0.00064
NM_152594.3(SPRED1):c.-309C>T rs578173447 0.00043
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.*105A>G rs545295358 0.00022
NM_152594.3(SPRED1):c.*565A>C rs866578422 0.00022
NM_152594.3(SPRED1):c.*5540A>G rs551994427 0.00020
NM_152594.3(SPRED1):c.*3395G>A rs140749542 0.00018
NM_152594.3(SPRED1):c.*4304G>A rs537477031 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.*3543C>T rs1007271242 0.00015
NM_152594.3(SPRED1):c.*4822A>G rs576136057 0.00015
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met) rs766814966 0.00013
NM_152594.3(SPRED1):c.*1747A>C rs561525888 0.00012
NM_152594.3(SPRED1):c.*2359G>C rs886051112 0.00011
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.*1897C>T rs776375597 0.00010
NM_152594.3(SPRED1):c.*3289C>T rs867439626 0.00010
NM_152594.3(SPRED1):c.*3657C>T rs761527047 0.00010
NM_152594.3(SPRED1):c.*1563C>T rs886051110 0.00009
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.-24A>G rs755230054 0.00007
NM_152594.3(SPRED1):c.*5418A>G rs547680341 0.00006
NM_152594.3(SPRED1):c.1273A>G (p.Met425Val) rs368307475 0.00006
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789 0.00006
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala) rs749389617 0.00006
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp) rs376699107 0.00006
NM_152594.3(SPRED1):c.*3340G>A rs571542327 0.00005
NM_152594.3(SPRED1):c.*3584G>A rs886051117 0.00005
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_152594.3(SPRED1):c.1105A>T (p.Met369Leu) rs779660163 0.00005
NM_152594.3(SPRED1):c.*2117A>G rs1037098024 0.00004
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227 0.00004
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr) rs370735097 0.00004
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg) rs1427402192 0.00004
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg) rs554327738 0.00004
NM_152594.3(SPRED1):c.*2853A>G rs187134665 0.00003
NM_152594.3(SPRED1):c.*4046G>A rs886051118 0.00003
NM_152594.3(SPRED1):c.-12G>C rs371200183 0.00003
NM_152594.3(SPRED1):c.-18G>T rs755489788 0.00003
NM_152594.3(SPRED1):c.-2A>T rs773950720 0.00003
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu) rs374685699 0.00003
NM_152594.3(SPRED1):c.1089A>G (p.Ile363Met) rs140225135 0.00003
NM_152594.3(SPRED1):c.1304G>A (p.Cys435Tyr) rs1442783307 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_152594.3(SPRED1):c.385G>A (p.Glu129Lys) rs764823722 0.00003
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly) rs762633609 0.00003
NM_152594.3(SPRED1):c.424-5A>G rs752656697 0.00003
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=) rs764234046 0.00003
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn) rs1401084390 0.00003
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn) rs904563789 0.00003
NM_152594.3(SPRED1):c.864A>C (p.Lys288Asn) rs777379558 0.00003
NM_152594.3(SPRED1):c.866A>C (p.Lys289Thr) rs372665535 0.00003
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr) rs200974459 0.00003
NM_152594.3(SPRED1):c.*1337A>C rs570038934 0.00002
NM_152594.3(SPRED1):c.*149G>A rs776485386 0.00002
NM_152594.3(SPRED1):c.*2398T>G rs1276005784 0.00002
NM_152594.3(SPRED1):c.*3323C>T rs547019744 0.00002
NM_152594.3(SPRED1):c.*3544G>A rs886051116 0.00002
NM_152594.3(SPRED1):c.*3659A>G rs1015221980 0.00002
NM_152594.3(SPRED1):c.*4725A>G rs530058944 0.00002
NM_152594.3(SPRED1):c.*810A>G rs886051108 0.00002
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808 0.00002
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.181C>T (p.Arg61Cys) rs765788978 0.00002
NM_152594.3(SPRED1):c.182G>A (p.Arg61His) rs750686148 0.00002
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val) rs758087535 0.00002
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile) rs201837340 0.00002
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys) rs201933663 0.00002
NM_152594.3(SPRED1):c.*1727G>T rs1296705457 0.00001
NM_152594.3(SPRED1):c.*2251G>A rs1045444732 0.00001
NM_152594.3(SPRED1):c.*2444T>A rs1355715078 0.00001
NM_152594.3(SPRED1):c.*2539A>T rs970641083 0.00001
NM_152594.3(SPRED1):c.*2990T>C rs1888571276 0.00001
NM_152594.3(SPRED1):c.*4744G>T rs886051120 0.00001
NM_152594.3(SPRED1):c.*936C>A rs1888514694 0.00001
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His) rs146702985 0.00001
NM_152594.3(SPRED1):c.101T>C (p.Leu34Pro) rs1282223944 0.00001
NM_152594.3(SPRED1):c.1025T>A (p.Phe342Tyr) rs1888483954 0.00001
NM_152594.3(SPRED1):c.1031A>G (p.His344Arg) rs376679136 0.00001
NM_152594.3(SPRED1):c.1033G>C (p.Glu345Gln) rs1306435872 0.00001
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr) rs1255579349 0.00001
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val) rs764768156 0.00001
NM_152594.3(SPRED1):c.1119G>C (p.Glu373Asp) rs1085307754 0.00001
NM_152594.3(SPRED1):c.1186A>G (p.Ser396Gly) rs769959530 0.00001
NM_152594.3(SPRED1):c.119G>C (p.Ser40Thr) rs781390048 0.00001
NM_152594.3(SPRED1):c.1208G>A (p.Arg403Gln) rs772476060 0.00001
NM_152594.3(SPRED1):c.1217C>T (p.Ala406Val) rs748390368 0.00001
NM_152594.3(SPRED1):c.1238T>C (p.Ile413Thr) rs1156410015 0.00001
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile) rs752958999 0.00001
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys) rs941091989 0.00001
NM_152594.3(SPRED1):c.1298G>A (p.Cys433Tyr) rs779454951 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.1307G>A (p.Cys436Tyr) rs772421738 0.00001
NM_152594.3(SPRED1):c.1313G>T (p.Gly438Val) rs573603750 0.00001
NM_152594.3(SPRED1):c.1324G>A (p.Ala442Thr) rs761401264 0.00001
NM_152594.3(SPRED1):c.149A>T (p.Gln50Leu) rs1475256958 0.00001
NM_152594.3(SPRED1):c.156G>C (p.Glu52Asp) rs2542661117 0.00001
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp) rs1261567261 0.00001
NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg) rs775334473 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.208-6T>C rs1241478218 0.00001
NM_152594.3(SPRED1):c.211G>A (p.Val71Ile) rs369150309 0.00001
NM_152594.3(SPRED1):c.236A>G (p.Asp79Gly) rs2140994779 0.00001
NM_152594.3(SPRED1):c.281T>C (p.Ile94Thr) rs761473300 0.00001
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp) rs779189071 0.00001
NM_152594.3(SPRED1):c.305C>T (p.Thr102Met) rs754706111 0.00001
NM_152594.3(SPRED1):c.31G>A (p.Asp11Asn) rs1445226319 0.00001
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val) rs1452661347 0.00001
NM_152594.3(SPRED1):c.350G>A (p.Arg117Gln) rs749378713 0.00001
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys) rs373381933 0.00001
NM_152594.3(SPRED1):c.376+4G>A rs1477635181 0.00001
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val) rs1230768530 0.00001
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg) rs1555391158 0.00001
NM_152594.3(SPRED1):c.424G>T (p.Ala142Ser) rs763971890 0.00001
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala) rs1895993159 0.00001
NM_152594.3(SPRED1):c.477A>T (p.Gln159His) rs781477854 0.00001
NM_152594.3(SPRED1):c.505A>G (p.Arg169Gly) rs1895994329 0.00001
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro) rs376527959 0.00001
NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr) rs1462787485 0.00001
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504 0.00001
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met) rs532147114 0.00001
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe) rs1895995078 0.00001
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys) rs143121426 0.00001
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly) rs921335586 0.00001
NM_152594.3(SPRED1):c.564G>A (p.Met188Ile) rs202092705 0.00001
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly) rs968982670 0.00001
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser) rs766431294 0.00001
NM_152594.3(SPRED1):c.583A>T (p.Ile195Leu) rs1385820657 0.00001
NM_152594.3(SPRED1):c.58G>C (p.Val20Leu) rs780614363 0.00001
NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn) rs139897054 0.00001
NM_152594.3(SPRED1):c.620G>C (p.Arg207Thr) rs2141014869 0.00001
NM_152594.3(SPRED1):c.641G>A (p.Arg214Gln) rs371274407 0.00001
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln) rs990641041 0.00001
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys) rs951963194 0.00001
NM_152594.3(SPRED1):c.684+50A>T rs200338097 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_152594.3(SPRED1):c.700A>G (p.Ile234Val) rs1199792537 0.00001
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104 0.00001
NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr) rs1888472357 0.00001
NM_152594.3(SPRED1):c.758T>C (p.Ile253Thr) rs1187107780 0.00001
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys) rs886041428 0.00001
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr) rs1287650497 0.00001
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn) rs1043239392 0.00001
NM_152594.3(SPRED1):c.860G>A (p.Ser287Asn) rs2542742811 0.00001
NM_152594.3(SPRED1):c.867A>T (p.Lys289Asn) rs1317926847 0.00001
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105 0.00001
NM_152594.3(SPRED1):c.892G>C (p.Asp298His) rs761001792 0.00001
NM_152594.3(SPRED1):c.913C>A (p.Pro305Thr) rs1448326986 0.00001
NM_152594.3(SPRED1):c.920A>G (p.Asp307Gly) rs764868020 0.00001
NM_152594.3(SPRED1):c.922T>G (p.Ser308Ala) rs765841849 0.00001
NM_152594.3(SPRED1):c.951A>T (p.Ser317=) rs899712805 0.00001
NM_152594.3(SPRED1):c.974G>A (p.Arg325Gln) rs1238094530 0.00001
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys) rs1352455265 0.00001
NM_152594.3(SPRED1):c.995G>A (p.Arg332His) rs779966392 0.00001
NM_152594.3(SPRED1):c.997T>G (p.Ser333Ala) rs1222580149 0.00001
GRCh37/hg19 15q14(chr15:38533577-38587586)x3
GRCh37/hg19 15q14(chr15:38643945-38689620)x1
NC_000015.9:g.(?_38545387)_(38591768_?)dup
NC_000015.9:g.(?_38545387)_(38617020_?)dup
NC_000015.9:g.(?_38545387)_(38643865_?)dup
NC_000015.9:g.(?_38591554)_(38643865_?)dup
NM_152594.3(SPRED1):c.*1095A>G rs1888519746
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*1798A>C rs886051111
NM_152594.3(SPRED1):c.*1833A>C rs1225083790
NM_152594.3(SPRED1):c.*1967C>T rs977825563
NM_152594.3(SPRED1):c.*2323T>C rs1397459578
NM_152594.3(SPRED1):c.*2414del rs532033889
NM_152594.3(SPRED1):c.*2422A>G rs1888552362
NM_152594.3(SPRED1):c.*2506_*2513del rs770258605
NM_152594.3(SPRED1):c.*2843A>C rs886051115
NM_152594.3(SPRED1):c.*3536C>G rs889076008
NM_152594.3(SPRED1):c.*3647T>G rs186366365
NM_152594.3(SPRED1):c.*3701A>G rs574179000
NM_152594.3(SPRED1):c.*3705A>G rs888994607
NM_152594.3(SPRED1):c.*383G>A rs1888501738
NM_152594.3(SPRED1):c.*4136ATT[1] rs369376164
NM_152594.3(SPRED1):c.*4781C>A rs886051121
NM_152594.3(SPRED1):c.*4948AT[1] rs886051122
NM_152594.3(SPRED1):c.*4987A>C rs886051123
NM_152594.3(SPRED1):c.*5232G>A rs886051124
NM_152594.3(SPRED1):c.*5263C>A rs78521927
NM_152594.3(SPRED1):c.*5346A>C rs886051125
NM_152594.3(SPRED1):c.*5440T>C rs917966244
NM_152594.3(SPRED1):c.*5449A>G rs1888638409
NM_152594.3(SPRED1):c.*578AT[11] rs147547509
NM_152594.3(SPRED1):c.*578AT[12] rs147547509
NM_152594.3(SPRED1):c.*578AT[13] rs147547509
NM_152594.3(SPRED1):c.*578AT[8] rs147547509
NM_152594.3(SPRED1):c.*632C>T rs1888507927
NM_152594.3(SPRED1):c.-114G>A rs1489810093
NM_152594.3(SPRED1):c.-12G>T rs371200183
NM_152594.3(SPRED1):c.-134C>T rs2542593868
NM_152594.3(SPRED1):c.-22A>C rs1057518143
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.1001G>C (p.Arg334Pro)
NM_152594.3(SPRED1):c.1006G>T (p.Val336Leu)
NM_152594.3(SPRED1):c.1015C>G (p.Gln339Glu)
NM_152594.3(SPRED1):c.1017G>T (p.Gln339His)
NM_152594.3(SPRED1):c.1021A>G (p.Arg341Gly)
NM_152594.3(SPRED1):c.1023G>C (p.Arg341Ser) rs1405547941
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp) rs2542743557
NM_152594.3(SPRED1):c.1037A>G (p.Glu346Gly)
NM_152594.3(SPRED1):c.1044_1045delinsCC (p.Val348_Arg349=) rs2542743687
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp) rs2542743687
NM_152594.3(SPRED1):c.1045A>T (p.Arg349Trp) rs774835982
NM_152594.3(SPRED1):c.1049G>C (p.Gly350Ala)
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu) rs2542660935
NM_152594.3(SPRED1):c.1060G>C (p.Asp354His)
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln) rs2542743784
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.1091A>G (p.Tyr364Cys)
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile) rs372623722
NM_152594.3(SPRED1):c.1098T>G (p.Val366=) rs1888486382
NM_152594.3(SPRED1):c.109A>G (p.Ser37Gly)
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser) rs2141016537
NM_152594.3(SPRED1):c.1104C>G (p.Cys368Trp)
NM_152594.3(SPRED1):c.1108C>T (p.Leu370Phe) rs397517870
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro) rs2141016541
NM_152594.3(SPRED1):c.1112G>A (p.Cys371Tyr) rs1178736205
NM_152594.3(SPRED1):c.1112G>C (p.Cys371Ser) rs1178736205
NM_152594.3(SPRED1):c.1117G>C (p.Glu373Gln) rs2542743989
NM_152594.3(SPRED1):c.1119G>T (p.Glu373Asp) rs1085307754
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile) rs1595763915
NM_152594.3(SPRED1):c.1144G>C (p.Asp382His)
NM_152594.3(SPRED1):c.1145A>T (p.Asp382Val) rs2542744060
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro) rs755208632
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val) rs1555389691
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe) rs1888487548
NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser) rs2542744118
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu) rs1345810751
NM_152594.3(SPRED1):c.1181A>G (p.Asp394Gly)
NM_152594.3(SPRED1):c.1183A>G (p.Thr395Ala)
NM_152594.3(SPRED1):c.1184C>T (p.Thr395Ile)
NM_152594.3(SPRED1):c.1189G>A (p.Asp397Asn) rs1888488545
NM_152594.3(SPRED1):c.118AGC[1] (p.Ser41del) rs1895108139
NM_152594.3(SPRED1):c.1190A>G (p.Asp397Gly) rs2542744197
NM_152594.3(SPRED1):c.1192G>T (p.Asp398Tyr) rs771480941
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr) rs2542744247
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter) rs1888489281
NM_152594.3(SPRED1):c.1216G>A (p.Ala406Thr) rs761520561
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr) rs762735151
NM_152594.3(SPRED1):c.1225_1226delinsTT (p.Ala409Phe) rs1566877075
NM_152594.3(SPRED1):c.1229T>C (p.Leu410Ser)
NM_152594.3(SPRED1):c.122G>T (p.Ser41Ile)
NM_152594.3(SPRED1):c.1231T>C (p.Ser411Pro) rs2542744373
NM_152594.3(SPRED1):c.1232C>G (p.Ser411Cys) rs2542744378
NM_152594.3(SPRED1):c.1232C>T (p.Ser411Phe) rs2542744378
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg) rs1888490204
NM_152594.3(SPRED1):c.1246T>G (p.Cys416Gly) rs1888490204
NM_152594.3(SPRED1):c.1259A>G (p.Tyr420Cys)
NM_152594.3(SPRED1):c.125T>A (p.Val42Asp)
NM_152594.3(SPRED1):c.1271_1272del (p.Arg424fs) rs2542744526
NM_152594.3(SPRED1):c.1274T>C (p.Met425Thr)
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile) rs2542744547
NM_152594.3(SPRED1):c.1277G>C (p.Cys426Ser)
NM_152594.3(SPRED1):c.1279C>G (p.His427Asp)
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg) rs1888490898
NM_152594.3(SPRED1):c.1281_*4dup (p.His427_Ter445=) rs1888490960
NM_152594.3(SPRED1):c.1292_1293dup (p.Ala432fs)
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys) rs2542744664
NM_152594.3(SPRED1):c.1304G>T (p.Cys435Phe)
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser) rs772421738
NM_152594.3(SPRED1):c.1313G>A (p.Gly438Glu)
NM_152594.3(SPRED1):c.1320_1321del (p.His440fs) rs759838497
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro) rs2542744717
NM_152594.3(SPRED1):c.1330G>A (p.Gly444Arg) rs2542744729
NM_152594.3(SPRED1):c.135C>G (p.Phe45Leu) rs1595733562
NM_152594.3(SPRED1):c.137A>G (p.Lys46Arg) rs2542661037
NM_152594.3(SPRED1):c.14C>G (p.Thr5Arg) rs2140943407
NM_152594.3(SPRED1):c.151G>C (p.Glu51Gln)
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys) rs2140978504
NM_152594.3(SPRED1):c.160G>A (p.Gly54Ser)
NM_152594.3(SPRED1):c.160G>T (p.Gly54Cys) rs2542661130
NM_152594.3(SPRED1):c.161G>C (p.Gly54Ala) rs1895110134
NM_152594.3(SPRED1):c.161G>T (p.Gly54Val) rs1895110134
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr) rs2140978515
NM_152594.3(SPRED1):c.167C>T (p.Ala56Val)
NM_152594.3(SPRED1):c.175T>C (p.Phe59Leu)
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val) rs761830220
NM_152594.3(SPRED1):c.17C>G (p.Ala6Gly) rs1490356893
NM_152594.3(SPRED1):c.182G>T (p.Arg61Leu) rs750686148
NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp) rs2140978555
NM_152594.3(SPRED1):c.189G>T (p.Glu63Asp) rs2140978555
NM_152594.3(SPRED1):c.191G>A (p.Arg64Gln)
NM_152594.3(SPRED1):c.197G>A (p.Arg66Lys)
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr) rs1895112263
NM_152594.3(SPRED1):c.205dup (p.Met69fs) rs2542661271
NM_152594.3(SPRED1):c.207+2804T>G
NM_152594.3(SPRED1):c.207+3A>C
NM_152594.3(SPRED1):c.207+5T>C
NM_152594.3(SPRED1):c.207G>A (p.Met69Ile) rs2542661278
NM_152594.3(SPRED1):c.208-12G>A rs2542695352
NM_152594.3(SPRED1):c.20C>T (p.Thr7Ile) rs1319028012
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe) rs1412213561
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu) rs2140994773
NM_152594.3(SPRED1):c.233A>G (p.Lys78Arg) rs2542695495
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr) rs2542695503
NM_152594.3(SPRED1):c.238C>G (p.Leu80Val)
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val) rs2542695537
NM_152594.3(SPRED1):c.242T>C (p.Ile81Thr) rs2542695547
NM_152594.3(SPRED1):c.247A>G (p.Asn83Asp)
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu) rs2140994791
NM_152594.3(SPRED1):c.251A>G (p.Lys84Arg)
NM_152594.3(SPRED1):c.25G>A (p.Asp9Asn) rs2542594496
NM_152594.3(SPRED1):c.270C>G (p.His90Gln) rs773943895
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg) rs1566867214
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met) rs1160225934
NM_152594.3(SPRED1):c.287A>C (p.Asp96Ala) rs1555391039
NM_152594.3(SPRED1):c.287A>G (p.Asp96Gly) rs1555391039
NM_152594.3(SPRED1):c.28A>T (p.Asn10Tyr)
NM_152594.3(SPRED1):c.28_30del (p.Asn10del)
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.299G>A (p.Gly100Asp) rs1555391048
NM_152594.3(SPRED1):c.299G>T (p.Gly100Val) rs1555391048
NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser) rs1894018444
NM_152594.3(SPRED1):c.302T>C (p.Leu101Pro) rs1595746820
NM_152594.3(SPRED1):c.302T>G (p.Leu101Arg) rs1595746820
NM_152594.3(SPRED1):c.311A>G (p.Gln104Arg) rs748376033
NM_152594.3(SPRED1):c.314G>T (p.Ser105Ile) rs1895620929
NM_152594.3(SPRED1):c.315T>G (p.Ser105Arg) rs1566867263
NM_152594.3(SPRED1):c.317C>T (p.Pro106Leu) rs2140994900
NM_152594.3(SPRED1):c.319G>A (p.Ala107Thr) rs1166410178
NM_152594.3(SPRED1):c.32+20491C>T
NM_152594.3(SPRED1):c.32+3A>T rs1894018882
NM_152594.3(SPRED1):c.32+6C>G
NM_152594.3(SPRED1):c.32+6C>T
NM_152594.3(SPRED1):c.339T>G (p.Asp113Glu)
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr) rs373381933
NM_152594.3(SPRED1):c.354A>T (p.Arg118Ser) rs2140994930
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro) rs2140994936
NM_152594.3(SPRED1):c.359T>C (p.Ile120Thr) rs1895621976
NM_152594.3(SPRED1):c.365A>T (p.Asp122Val) rs2542695991
NM_152594.3(SPRED1):c.374A>G (p.Gln125Arg) rs2542696023
NM_152594.3(SPRED1):c.376+15C>A rs2542696071
NM_152594.3(SPRED1):c.376+3A>G rs775985211
NM_152594.3(SPRED1):c.376+4G>C rs1477635181
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg) rs2140994953
NM_152594.3(SPRED1):c.379T>C (p.Cys127Arg)
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala) rs1895677013
NM_152594.3(SPRED1):c.388T>C (p.Ser130Pro) rs149883080
NM_152594.3(SPRED1):c.38G>A (p.Ser13Asn) rs1057517922
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser) rs1595748117
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln) rs1595748136
NM_152594.3(SPRED1):c.409G>A (p.Ala137Thr)
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val) rs1355725873
NM_152594.3(SPRED1):c.412G>T (p.Asp138Tyr)
NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly) rs751138842
NM_152594.3(SPRED1):c.41A>G (p.Tyr14Cys)
NM_152594.3(SPRED1):c.421C>A (p.Gln141Lys) rs1060502505
NM_152594.3(SPRED1):c.423+5G>A rs1895679388
NM_152594.3(SPRED1):c.423+5_423+8del rs1895679212
NM_152594.3(SPRED1):c.424-4A>G rs1057518328
NM_152594.3(SPRED1):c.424-6312C>G
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp) rs2542723530
NM_152594.3(SPRED1):c.428A>G (p.Asn143Ser)
NM_152594.3(SPRED1):c.431A>G (p.Glu144Gly) rs1895992409
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr) rs753924528
NM_152594.3(SPRED1):c.440C>T (p.Ser147Phe) rs2542723569
NM_152594.3(SPRED1):c.443C>A (p.Ser148Tyr)
NM_152594.3(SPRED1):c.445A>G (p.Ser149Gly) rs2141007736
NM_152594.3(SPRED1):c.449C>A (p.Ser150Tyr) rs1555392025
NM_152594.3(SPRED1):c.449C>T (p.Ser150Phe) rs1555392025
NM_152594.3(SPRED1):c.451C>G (p.Leu151Val) rs750421037
NM_152594.3(SPRED1):c.460G>T (p.Asp154Tyr) rs1414327113
NM_152594.3(SPRED1):c.462_464dup (p.His155dup) rs1895993278
NM_152594.3(SPRED1):c.46C>G (p.Arg16Gly) rs1057517941
NM_152594.3(SPRED1):c.478G>A (p.Glu160Lys)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln) rs757726772
NM_152594.3(SPRED1):c.47G>T (p.Arg16Leu) rs757726772
NM_152594.3(SPRED1):c.480G>C (p.Glu160Asp) rs2542723705
NM_152594.3(SPRED1):c.487G>T (p.Val163Phe) rs1895993694
NM_152594.3(SPRED1):c.493A>G (p.Ser165Gly) rs1456920197
NM_152594.3(SPRED1):c.495T>G (p.Ser165Arg)
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp) rs770446191
NM_152594.3(SPRED1):c.49G>A (p.Val17Met) rs1895106351
NM_152594.3(SPRED1):c.49G>C (p.Val17Leu) rs1895106351
NM_152594.3(SPRED1):c.502T>G (p.Tyr168Asp) rs1566872960
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly) rs1895994444
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala) rs1421913267
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile) rs2141007899
NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr) rs2542723860
NM_152594.3(SPRED1):c.526_528del (p.Ser176del) rs763365429
NM_152594.3(SPRED1):c.530C>T (p.Pro177Leu)
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr) rs1375474473
NM_152594.3(SPRED1):c.539A>T (p.Asp180Val)
NM_152594.3(SPRED1):c.53G>A (p.Arg18Gln)
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu) rs758855467
NM_152594.3(SPRED1):c.546T>A (p.Asn182Lys) rs1419303814
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr) rs1895995583
NM_152594.3(SPRED1):c.548C>A (p.Ala183Asp) rs1345908231
NM_152594.3(SPRED1):c.548C>T (p.Ala183Val) rs1345908231
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile) rs2542723979
NM_152594.3(SPRED1):c.557T>C (p.Val186Ala)
NM_152594.3(SPRED1):c.55G>A (p.Ala19Thr)
NM_152594.3(SPRED1):c.560A>G (p.Tyr187Cys)
NM_152594.3(SPRED1):c.563T>A (p.Met188Lys)
NM_152594.3(SPRED1):c.564_565delinsAA (p.Met188_Gln189delinsIleLys) rs2542724014
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.567A>T (p.Gln189His) rs764990934
NM_152594.3(SPRED1):c.573A>C (p.Gln191His)
NM_152594.3(SPRED1):c.574_582+14dup rs2542724051
NM_152594.3(SPRED1):c.582+4A>C rs2542724100
NM_152594.3(SPRED1):c.582G>T (p.Gln194His)
NM_152594.3(SPRED1):c.583-11_583-8del rs2542739108
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys) rs1166488554
NM_152594.3(SPRED1):c.584T>C (p.Ile195Thr)
NM_152594.3(SPRED1):c.591T>G (p.Phe197Leu)
NM_152594.3(SPRED1):c.592G>T (p.Gly198Cys) rs1296168587
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala) rs1186657394
NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu) rs778144652
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val) rs1896206860
NM_152594.3(SPRED1):c.605T>C (p.Leu202Ser) rs1555392598
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr) rs1227245527
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg) rs779879921
NM_152594.3(SPRED1):c.618C>G (p.Ser206Arg)
NM_152594.3(SPRED1):c.626T>C (p.Met209Thr)
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp) rs2141014874
NM_152594.3(SPRED1):c.631T>C (p.Tyr211His) rs1896207918
NM_152594.3(SPRED1):c.649T>G (p.Ser217Ala) rs2542739374
NM_152594.3(SPRED1):c.652A>G (p.Lys218Glu) rs1446412856
NM_152594.3(SPRED1):c.658T>C (p.Cys220Arg)
NM_152594.3(SPRED1):c.659G>A (p.Cys220Tyr) rs1896209096
NM_152594.3(SPRED1):c.659G>T (p.Cys220Phe)
NM_152594.3(SPRED1):c.660T>G (p.Cys220Trp)
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg) rs1896209442
NM_152594.3(SPRED1):c.667C>G (p.Leu223Val)
NM_152594.3(SPRED1):c.66G>A (p.Met22Ile)
NM_152594.3(SPRED1):c.66G>T (p.Met22Ile) rs1555389685
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro) rs2542739466
NM_152594.3(SPRED1):c.684+3A>C
NM_152594.3(SPRED1):c.684+5G>A rs985085386
NM_152594.3(SPRED1):c.684G>T (p.Arg228Ser) rs1446813077
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT rs2542742264
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.689C>G (p.Pro230Arg) rs2141016004
NM_152594.3(SPRED1):c.691T>G (p.Leu231Val)
NM_152594.3(SPRED1):c.6C>G (p.Ser2Arg)
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr) rs2542742399
NM_152594.3(SPRED1):c.713G>T (p.Ser238Ile)
NM_152594.3(SPRED1):c.714C>G (p.Ser238Arg)
NM_152594.3(SPRED1):c.71_72delinsTT (p.Arg24Leu) rs2140978413
NM_152594.3(SPRED1):c.721G>C (p.Asp241His) rs1888472164
NM_152594.3(SPRED1):c.722A>G (p.Asp241Gly) rs2141016047
NM_152594.3(SPRED1):c.724G>A (p.Glu242Lys)
NM_152594.3(SPRED1):c.727G>A (p.Asp243Asn)
NM_152594.3(SPRED1):c.747C>G (p.Asn249Lys) rs1888472576
NM_152594.3(SPRED1):c.74A>G (p.Asp25Gly) rs1057524159
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser) rs1187107780
NM_152594.3(SPRED1):c.765A>G (p.Ile255Met)
NM_152594.3(SPRED1):c.766C>A (p.Arg256Ser) rs1331443136
NM_152594.3(SPRED1):c.766C>T (p.Arg256Cys) rs1331443136
NM_152594.3(SPRED1):c.769C>T (p.Arg257Cys)
NM_152594.3(SPRED1):c.770G>A (p.Arg257His) rs750832911
NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu) rs750832911
NM_152594.3(SPRED1):c.773A>G (p.Tyr258Cys) rs2141016090
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys) rs2542742581
NM_152594.3(SPRED1):c.788A>G (p.His263Arg) rs2542742604
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu) rs1340143366
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile) rs2542742655
NM_152594.3(SPRED1):c.798G>C (p.Met266Ile)
NM_152594.3(SPRED1):c.814G>C (p.Glu272Gln)
NM_152594.3(SPRED1):c.820G>A (p.Asp274Asn)
NM_152594.3(SPRED1):c.823G>T (p.Asp275Tyr) rs780737673
NM_152594.3(SPRED1):c.826G>A (p.Ala276Thr) rs1270752951
NM_152594.3(SPRED1):c.827C>G (p.Ala276Gly)
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly) rs2140978422
NM_152594.3(SPRED1):c.833C>G (p.Ser278Cys)
NM_152594.3(SPRED1):c.836_837delinsTA (p.Ser279Ile)
NM_152594.3(SPRED1):c.838A>G (p.Ile280Val)
NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)
NM_152594.3(SPRED1):c.854C>T (p.Pro285Leu) rs759197561
NM_152594.3(SPRED1):c.856G>A (p.Asp286Asn) rs2141016195
NM_152594.3(SPRED1):c.858C>G (p.Asp286Glu)
NM_152594.3(SPRED1):c.862A>G (p.Lys288Glu)
NM_152594.3(SPRED1):c.866A>T (p.Lys289Ile)
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val) rs2542742860
NM_152594.3(SPRED1):c.874T>C (p.Tyr292His)
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val) rs1888476201
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro) rs2542742899
NM_152594.3(SPRED1):c.886T>A (p.Cys296Ser) rs554327738
NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg) rs2542660889
NM_152594.3(SPRED1):c.893A>G (p.Asp298Gly) rs2542742959
NM_152594.3(SPRED1):c.893A>T (p.Asp298Val)
NM_152594.3(SPRED1):c.895G>A (p.Glu299Lys)
NM_152594.3(SPRED1):c.896A>C (p.Glu299Ala) rs2542742966
NM_152594.3(SPRED1):c.897G>T (p.Glu299Asp)
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala) rs1888477050
NM_152594.3(SPRED1):c.89G>T (p.Gly30Val) rs1317038482
NM_152594.3(SPRED1):c.8A>T (p.Glu3Val)
NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr) rs2542742994
NM_152594.3(SPRED1):c.906A>C (p.Leu302Phe)
NM_152594.3(SPRED1):c.907A>C (p.Ser303Arg) rs2141016279
NM_152594.3(SPRED1):c.908G>A (p.Ser303Asn) rs1261994638
NM_152594.3(SPRED1):c.914C>A (p.Pro305His)
NM_152594.3(SPRED1):c.916A>G (p.Lys306Glu) rs1300035418
NM_152594.3(SPRED1):c.917A>G (p.Lys306Arg) rs1888477642
NM_152594.3(SPRED1):c.91T>A (p.Trp31Arg)
NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr) rs765841849
NM_152594.3(SPRED1):c.92G>C (p.Trp31Ser)
NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu) rs375700452
NM_152594.3(SPRED1):c.941A>C (p.Gln314Pro)
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser) rs2542743162
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val) rs2542743220
NM_152594.3(SPRED1):c.958A>T (p.Ile320Phe)
NM_152594.3(SPRED1):c.962A>C (p.Lys321Thr) rs2542743236
NM_152594.3(SPRED1):c.962A>G (p.Lys321Arg) rs2542743236
NM_152594.3(SPRED1):c.963G>C (p.Lys321Asn) rs369711772
NM_152594.3(SPRED1):c.965A>C (p.Lys322Thr)
NM_152594.3(SPRED1):c.966G>T (p.Lys322Asn)
NM_152594.3(SPRED1):c.967T>G (p.Ser323Ala) rs2542743286
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly) rs1057518683
NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr) rs750890621
NM_152594.3(SPRED1):c.985G>A (p.Asp329Asn)
NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr) rs756634323
NM_152594.3(SPRED1):c.986A>T (p.Asp329Val)
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp) rs1461391044
NM_152594.3(SPRED1):c.98C>T (p.Pro33Leu)
NM_152594.3(SPRED1):c.993A>G (p.Glu331=) rs2542743409
NM_152594.3(SPRED1):c.994C>T (p.Arg332Cys)

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