ClinVar Miner

List of variants in gene SPRED1 studied for Noonan syndrome and Noonan-related syndrome

Included ClinVar conditions (67):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 774
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82455
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82446
NM_152594.3(SPRED1):c.684+49_684+50insTT rs61670754 0.82335
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.*4662T>A rs10852019 0.78336
NM_152594.3(SPRED1):c.*5110C>T rs8026118 0.77436
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_152594.3(SPRED1):c.*3830G>A rs8039150 0.22340
NM_152594.3(SPRED1):c.*4932A>G rs16966843 0.20289
NM_152594.3(SPRED1):c.*2831G>A rs35490364 0.19602
NM_152594.3(SPRED1):c.424-98= rs7163339 0.17991
NM_152594.3(SPRED1):c.424-8= rs7180446 0.17554
NM_152594.3(SPRED1):c.*3521A>G rs11634702 0.11111
NM_152594.3(SPRED1):c.*1724A>C rs1554527 0.09012
NM_152594.3(SPRED1):c.*3996G>A rs72725364 0.08975
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04191
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01115
NM_152594.3(SPRED1):c.*2885G>A rs79309779 0.01111
NM_152594.3(SPRED1):c.*3057A>G rs72725362 0.01073
NM_152594.3(SPRED1):c.*3698T>G rs76527876 0.00908
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_152594.3(SPRED1):c.*2420T>C rs184024152 0.00718
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00607
NM_152594.3(SPRED1):c.*427A>T rs185290497 0.00592
NM_152594.3(SPRED1):c.*3591C>T rs147489619 0.00493
NM_152594.3(SPRED1):c.*1040G>A rs115568221 0.00420
NM_152594.3(SPRED1):c.*2570T>C rs111997668 0.00408
NM_152594.3(SPRED1):c.*3623G>T rs148525432 0.00324
NM_152594.3(SPRED1):c.*5398G>T rs115003524 0.00257
NM_152594.3(SPRED1):c.*2742G>T rs149336440 0.00243
NM_152594.3(SPRED1):c.*3561G>A rs181980647 0.00234
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_152594.3(SPRED1):c.*4372A>G rs187788660 0.00113
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.-191C>T rs556907443 0.00089
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.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00068
NM_152594.3(SPRED1):c.*3192G>A rs566065329 0.00064
NM_152594.3(SPRED1):c.*4697G>A rs188784206 0.00048
NM_152594.3(SPRED1):c.-309C>T rs578173447 0.00043
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.*633A>G rs118146919 0.00037
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00023
NM_152594.3(SPRED1):c.*105A>G rs545295358 0.00022
NM_152594.3(SPRED1):c.*2247A>G rs118057877 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.446G>A (p.Ser149Asn) rs373384814 0.00017
NM_152594.3(SPRED1):c.*2018T>G rs188392935 0.00016
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.376+3A>T rs775985211 0.00014
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.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.*1563C>T rs886051110 0.00009
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 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.290A>G (p.Lys97Arg) rs556636985 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.32+20C>T rs374284804 0.00006
NM_152594.3(SPRED1):c.582+17T>A rs200904257 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.1176G>A (p.Ser392=) rs755223172 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_152594.3(SPRED1):c.*2117A>G rs1037098024 0.00004
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=) rs202087411 0.00004
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227 0.00004
NM_152594.3(SPRED1):c.377-12C>T rs371837252 0.00004
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr) rs370735097 0.00004
NM_152594.3(SPRED1):c.583-15T>C rs371902444 0.00004
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 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.-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.1225G>T (p.Ala409Ser) rs762735151 0.00003
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 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.438T>C (p.Asp146=) rs757357920 0.00003
NM_152594.3(SPRED1):c.583-9G>T rs1421813002 0.00003
NM_152594.3(SPRED1):c.645A>C (p.Gln215His) rs144227155 0.00003
NM_152594.3(SPRED1):c.665G>A (p.Ser222Asn) rs1401084390 0.00003
NM_152594.3(SPRED1):c.685-10T>G rs1325841398 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.1080A>G (p.Lys360=) rs749654043 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.207+11A>T rs755730953 0.00002
NM_152594.3(SPRED1):c.376+17A>G rs542729153 0.00002
NM_152594.3(SPRED1):c.408G>T (p.Gly136=) rs765800186 0.00002
NM_152594.3(SPRED1):c.426A>G (p.Ala142=) rs753701682 0.00002
NM_152594.3(SPRED1):c.435G>A (p.Glu145=) rs1895992523 0.00002
NM_152594.3(SPRED1):c.576C>T (p.Ala192=) rs1356983128 0.00002
NM_152594.3(SPRED1):c.588A>T (p.Thr196=) rs2542739158 0.00002
NM_152594.3(SPRED1):c.610A>G (p.Ile204Val) rs758087535 0.00002
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=) rs149991304 0.00002
NM_152594.3(SPRED1):c.685-17A>G rs1223645192 0.00002
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile) rs201837340 0.00002
NM_152594.3(SPRED1):c.687C>A (p.Val229=) rs376226762 0.00002
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys) rs201933663 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 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.*5202C>T rs541213700 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.1044_1045del (p.Arg349fs) rs1366401484 0.00001
NM_152594.3(SPRED1):c.1046G>C (p.Arg349Thr) rs1221405249 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.1146C>T (p.Asp382=) rs1286583801 0.00001
NM_152594.3(SPRED1):c.1185T>C (p.Thr395=) rs1888488292 0.00001
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=) rs773409045 0.00001
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=) rs749745659 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.123C>T (p.Ser41=) rs748759533 0.00001
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=) rs934682906 0.00001
NM_152594.3(SPRED1):c.1261G>A (p.Val421Ile) rs752958999 0.00001
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=) rs1313604330 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.207+19A>G rs369538663 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.21T>A (p.Thr7=) rs1220734936 0.00001
NM_152594.3(SPRED1):c.27C>T (p.Asp9=) rs727504717 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.304dup (p.Thr102fs) rs1555391053 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.32+12A>G rs202192533 0.00001
NM_152594.3(SPRED1):c.32+18C>T rs768482785 0.00001
NM_152594.3(SPRED1):c.321T>C (p.Ala107=) rs770197803 0.00001
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val) rs1452661347 0.00001
NM_152594.3(SPRED1):c.33-11A>G rs775671940 0.00001
NM_152594.3(SPRED1):c.33-14T>C rs1566859694 0.00001
NM_152594.3(SPRED1):c.33-1G>A rs1895105626 0.00001
NM_152594.3(SPRED1):c.33-7A>G rs760850290 0.00001
NM_152594.3(SPRED1):c.348C>T (p.Ile116=) rs773363523 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+19T>G rs1222539348 0.00001
NM_152594.3(SPRED1):c.376+4G>A rs1477635181 0.00001
NM_152594.3(SPRED1):c.377-19del rs1267902445 0.00001
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615 0.00001
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val) rs1230768530 0.00001
NM_152594.3(SPRED1):c.39T>C (p.Ser13=) rs1303549798 0.00001
NM_152594.3(SPRED1):c.406G>A (p.Gly136Arg) rs1555391158 0.00001
NM_152594.3(SPRED1):c.423+10G>T rs1350887785 0.00001
NM_152594.3(SPRED1):c.423+11G>A rs2542700422 0.00001
NM_152594.3(SPRED1):c.423+17A>G rs1263567092 0.00001
NM_152594.3(SPRED1):c.424-15G>A rs1438431114 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.46C>T (p.Arg16Ter) rs1057517941 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.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.546T>C (p.Asn182=) rs1419303814 0.00001
NM_152594.3(SPRED1):c.553A>G (p.Arg185Gly) rs921335586 0.00001
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=) rs201335683 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.570C>T (p.Ser190=) rs758617124 0.00001
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser) rs766431294 0.00001
NM_152594.3(SPRED1):c.582+18T>C rs781686509 0.00001
NM_152594.3(SPRED1):c.582+1G>T rs1595756946 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.60G>C (p.Val20=) rs367745143 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.669A>G (p.Leu223=) rs774530752 0.00001
NM_152594.3(SPRED1):c.683G>A (p.Arg228Lys) rs951963194 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.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.734T>C (p.Ile245Thr) rs1888472357 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 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.852A>G (p.Lys284=) rs1160876585 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.888T>C (p.Cys296=) rs775556490 0.00001
NM_152594.3(SPRED1):c.892G>C (p.Asp298His) rs761001792 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.930A>G (p.Val310=) rs1164761920 0.00001
NM_152594.3(SPRED1):c.951A>T (p.Ser317=) rs899712805 0.00001
NM_152594.3(SPRED1):c.954A>G (p.Leu318=) rs753357510 0.00001
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683 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.990T>G (p.Gly330=) rs1184835258 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
NM_152594.3(SPRED1):c.999T>C (p.Ser333=) rs1888480574 0.00001
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NC_000015.10:g.38351008_38351021T[4]AGGTCCCTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGACCATCTTGGCTCCTCCCCTTTTAGGTCCCTTT[1]
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38591768_?)del
NC_000015.9:g.(?_38545387)_(38591768_?)dup
NC_000015.9:g.(?_38545387)_(38617020_?)dup
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)dup
NC_000015.9:g.(?_38591554)_(38643865_?)dup
NC_000015.9:g.(?_38591564)_(38591758_?)del
NC_000015.9:g.(?_38591564)_(38632106_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NC_000015.9:g.(?_38631928)_(38643865_?)del
NM_152594.3(SPRED1):c.*1095A>G rs1888519746
NM_152594.3(SPRED1):c.*1400G>A rs886051109
NM_152594.3(SPRED1):c.*1659_*1662del rs57589132
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.*2611C>T rs181716461
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.*3946G>A rs8039337
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.*5090dup rs141174183
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.*581T>C rs541503324
NM_152594.3(SPRED1):c.*632C>T rs1888507927
NM_152594.3(SPRED1):c.-114G>A rs1489810093
NM_152594.3(SPRED1):c.-294C>T rs886051100
NM_152594.3(SPRED1):c.-87C>T rs886051103
NM_152594.3(SPRED1):c.1005C>A (p.Cys335Ter)
NM_152594.3(SPRED1):c.1008A>G (p.Val336=) rs1555392775
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) rs2141016437
NM_152594.3(SPRED1):c.1011C>T (p.Tyr337=) rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1021A>C (p.Arg341=)
NM_152594.3(SPRED1):c.1021A>G (p.Arg341Gly)
NM_152594.3(SPRED1):c.1027A>G (p.Asn343Asp) rs2542743557
NM_152594.3(SPRED1):c.102T>C (p.Leu34=) rs2140978435
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs) rs2542743623
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer) rs2542743630
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.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1049G>C (p.Gly350Ala)
NM_152594.3(SPRED1):c.104G>A (p.Gly35Glu) rs2542660935
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1062del (p.Asp354fs) rs2141016500
NM_152594.3(SPRED1):c.1065T>C (p.Ala355=) rs2542743779
NM_152594.3(SPRED1):c.1067C>A (p.Pro356Gln) rs2542743784
NM_152594.3(SPRED1):c.1073del (p.Pro358fs) rs2542743797
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.108G>T (p.Gly36=) rs2542660940
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs) rs2542743874
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.1098_1099dup (p.Ser367fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1103G>C (p.Cys368Ser) rs2141016537
NM_152594.3(SPRED1):c.1109T>C (p.Leu370Pro) rs2141016541
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter) rs2542743989
NM_152594.3(SPRED1):c.1125G>A (p.Met375Ile) rs1595763915
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs) rs2141016553
NM_152594.3(SPRED1):c.1138_1141del (p.Met380fs)
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter) rs2542744037
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer) rs2542744046
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=) rs2542744054
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro) rs755208632
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) rs1595763928
NM_152594.3(SPRED1):c.1154del (p.Gly385fs)
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=) rs2141016567
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.1170C>G (p.Pro390=) rs781585106
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=) rs781585106
NM_152594.3(SPRED1):c.1172G>C (p.Cys391Ser) rs2542744118
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter) rs1345810751
NM_152594.3(SPRED1):c.1175C>T (p.Ser392Leu) rs1345810751
NM_152594.3(SPRED1):c.117A>G (p.Leu39=) rs2542660979
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.1185T>G (p.Thr395=) rs1888488292
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.1194C>T (p.Asp398=) rs2141016629
NM_152594.3(SPRED1):c.1196dup (p.Phe400fs) rs1555392791
NM_152594.3(SPRED1):c.1199T>A (p.Phe400Tyr) rs2542744247
NM_152594.3(SPRED1):c.1200C>T (p.Phe400=) rs2141016638
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=) rs2141016645
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=) rs2542744281
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter) rs1201851975
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter) rs1888489281
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=) rs1595764001
NM_152594.3(SPRED1):c.1216G>A (p.Ala406Thr) rs761520561
NM_152594.3(SPRED1):c.1218C>T (p.Ala406=)
NM_152594.3(SPRED1):c.1224A>G (p.Val408=) rs1888489718
NM_152594.3(SPRED1):c.1224del (p.Ala409fs) rs2542744343
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.1232C>T (p.Ser411Phe) rs2542744378
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs) rs2542744385
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs) rs2141016692
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.1248T>A (p.Cys416Ter) rs2141016711
NM_152594.3(SPRED1):c.1254C>T (p.Cys418=) rs2141016717
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.1273del (p.Met425fs) rs2141016737
NM_152594.3(SPRED1):c.1275G>A (p.Met425Ile) rs2542744547
NM_152594.3(SPRED1):c.1279C>G (p.His427Asp)
NM_152594.3(SPRED1):c.1280A>G (p.His427Arg) rs1888490898
NM_152594.3(SPRED1):c.1285T>C (p.Cys429Arg) rs2542744607
NM_152594.3(SPRED1):c.1287T>C (p.Cys429=) rs2542744613
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=) rs2141016767
NM_152594.3(SPRED1):c.1300G>T (p.Gly434Cys) rs2542744664
NM_152594.3(SPRED1):c.1307G>C (p.Cys436Ser) rs772421738
NM_152594.3(SPRED1):c.1317A>G (p.Lys439=) rs2542744695
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
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.1329T>A (p.Ala443=) rs2542744723
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.148C>T (p.Gln50Ter) rs148646547
NM_152594.3(SPRED1):c.154G>A (p.Glu52Lys) rs2140978504
NM_152594.3(SPRED1):c.159T>C (p.Asn53=) rs2542661124
NM_152594.3(SPRED1):c.15G>C (p.Thr5=) rs1278027767
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.163del (p.Cys55fs) rs2140978513
NM_152594.3(SPRED1):c.164G>A (p.Cys55Tyr) rs2140978515
NM_152594.3(SPRED1):c.174T>C (p.Phe58=) rs1595733589
NM_152594.3(SPRED1):c.177del (p.Phe59fs) rs1895110802
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) rs1895110802
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.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.191G>A (p.Arg64Gln)
NM_152594.3(SPRED1):c.197G>C (p.Arg66Thr) rs1895112263
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152594.3(SPRED1):c.1A>T (p.Met1Leu)
NM_152594.3(SPRED1):c.1_2del (p.Met1fs) rs1555386649
NM_152594.3(SPRED1):c.205dup (p.Met69fs) rs2542661271
NM_152594.3(SPRED1):c.207+10A>G rs918390069
NM_152594.3(SPRED1):c.207+12T>C rs929799385
NM_152594.3(SPRED1):c.207+13G>A
NM_152594.3(SPRED1):c.207+16T>G rs1322998447
NM_152594.3(SPRED1):c.207+1G>A rs1595733611
NM_152594.3(SPRED1):c.207+1G>T rs1595733611
NM_152594.3(SPRED1):c.207+37A>G rs2272105
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.208-10C>G rs1353650192
NM_152594.3(SPRED1):c.208-11G>A rs751879511
NM_152594.3(SPRED1):c.208-12G>A rs2542695352
NM_152594.3(SPRED1):c.208-12G>C 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.228T>A (p.Leu76=) rs763749955
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.232A>G (p.Lys78Glu) rs2140994773
NM_152594.3(SPRED1):c.234del (p.Asp79fs)
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.235G>T (p.Asp79Tyr) rs2542695503
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val) rs2542695537
NM_152594.3(SPRED1):c.244_245insGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGACCTCATTT (p.Tyr82delinsTrpSerGlyAspArgAspHisProGlyTer)
NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs) rs2140943428
NM_152594.3(SPRED1):c.24del (p.Asp9fs) rs1555386654
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.272del (p.His91fs) rs2542695643
NM_152594.3(SPRED1):c.274T>C (p.Trp92Arg) rs1566867214
NM_152594.3(SPRED1):c.279G>A (p.Lys93=) rs778384985
NM_152594.3(SPRED1):c.282T>G (p.Ile94Met) rs1160225934
NM_152594.3(SPRED1):c.282_285del (p.Ile94fs)
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.288C>T (p.Asp96=) rs2542695696
NM_152594.3(SPRED1):c.28_30del (p.Asn10del)
NM_152594.3(SPRED1):c.290_291delinsGA (p.Lys97Arg) rs1555391042
NM_152594.3(SPRED1):c.291del (p.Lys98fs) rs1595746804
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.300T>C (p.Gly100=) rs1895620171
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
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.304_334del (p.Thr102fs)
NM_152594.3(SPRED1):c.305C>A (p.Thr102Lys) rs754706111
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs) rs2140994872
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) rs1595746834
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+14T>C rs2140943483
NM_152594.3(SPRED1):c.32+16A>G
NM_152594.3(SPRED1):c.32+18C>G rs768482785
NM_152594.3(SPRED1):c.32+2T>G rs2140943462
NM_152594.3(SPRED1):c.32+3A>T rs1894018882
NM_152594.3(SPRED1):c.32+3_32+6dup rs2542594551
NM_152594.3(SPRED1):c.32+6C>G
NM_152594.3(SPRED1):c.32+6C>T
NM_152594.3(SPRED1):c.32+9C>T rs2542594576
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.328del (p.Arg110fs) rs2542695865
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs) rs2542695902
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.350_351dup (p.Arg118fs)
NM_152594.3(SPRED1):c.353G>C (p.Arg118Thr) rs373381933
NM_152594.3(SPRED1):c.355G>C (p.Ala119Pro) rs2140994936
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) rs1895621783
NM_152594.3(SPRED1):c.359T>C (p.Ile120Thr) rs1895621976
NM_152594.3(SPRED1):c.363G>A (p.Glu121=) rs2542695974
NM_152594.3(SPRED1):c.373C>T (p.Gln125Ter)
NM_152594.3(SPRED1):c.376+10C>A rs2140994968
NM_152594.3(SPRED1):c.376+1G>A rs1184012360
NM_152594.3(SPRED1):c.376+1G>T rs1184012360
NM_152594.3(SPRED1):c.376+3A>G rs775985211
NM_152594.3(SPRED1):c.376+4G>C rs1477635181
NM_152594.3(SPRED1):c.376+9T>G rs1555391063
NM_152594.3(SPRED1):c.376G>C (p.Gly126Arg) rs2140994953
NM_152594.3(SPRED1):c.377-16T>C
NM_152594.3(SPRED1):c.377-16T>G rs1265763193
NM_152594.3(SPRED1):c.377-21_377-18del
NM_152594.3(SPRED1):c.381C>T (p.Cys127=) rs1285949702
NM_152594.3(SPRED1):c.382C>G (p.Pro128Ala) rs1895677013
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) rs764823722
NM_152594.3(SPRED1):c.395A>G (p.Asn132Ser) rs1595748117
NM_152594.3(SPRED1):c.395dup (p.Asn132fs) rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile) rs1324903101
NM_152594.3(SPRED1):c.402T>C (p.Ala134=) rs1341388240
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln) rs1595748136
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs) rs2542700259
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) rs2140978331
NM_152594.3(SPRED1):c.410C>T (p.Ala137Val) rs1355725873
NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly) rs751138842
NM_152594.3(SPRED1):c.413_414dup (p.Asp139fs)
NM_152594.3(SPRED1):c.41A>G (p.Tyr14Cys)
NM_152594.3(SPRED1):c.421C>A (p.Gln141Lys) rs1060502505
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+19G>A rs2542700435
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+1del rs2542700396
NM_152594.3(SPRED1):c.423+20G>A rs767491326
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.423+5G>A rs1895679388
NM_152594.3(SPRED1):c.423+5_423+8del rs1895679212
NM_152594.3(SPRED1):c.423+8A>G rs2140996685
NM_152594.3(SPRED1):c.424-14G>A
NM_152594.3(SPRED1):c.424-16G>A
NM_152594.3(SPRED1):c.424-19T>C rs2542723493
NM_152594.3(SPRED1):c.424-19T>G rs2542723493
NM_152594.3(SPRED1):c.424-2A>T rs2542723522
NM_152594.3(SPRED1):c.424-4A>G rs1057518328
NM_152594.3(SPRED1):c.427A>G (p.Asn143Asp) rs2542723530
NM_152594.3(SPRED1):c.428A>G (p.Asn143Ser)
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter) rs764234046
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.444C>G (p.Ser148=) rs2542723582
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.459G>A (p.Lys153=) rs1318587614
NM_152594.3(SPRED1):c.460G>T (p.Asp154Tyr) rs1414327113
NM_152594.3(SPRED1):c.461del (p.Asp154fs) rs2542723633
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.472C>T (p.Gln158Ter) rs2542723680
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
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.486T>G (p.Val162=) rs2141007825
NM_152594.3(SPRED1):c.487G>T (p.Val163Phe) rs1895993694
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs) rs2542723735
NM_152594.3(SPRED1):c.493A>G (p.Ser165Gly) rs1456920197
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.508A>G (p.Ser170Gly) rs1895994444
NM_152594.3(SPRED1):c.50T>C (p.Val17Ala) rs1421913267
NM_152594.3(SPRED1):c.510C>T (p.Ser170=) rs771673657
NM_152594.3(SPRED1):c.51G>A (p.Val17=) rs864622421
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile) rs2141007899
NM_152594.3(SPRED1):c.521_522dup (p.Pro175fs) rs2542723848
NM_152594.3(SPRED1):c.526_528del (p.Ser176del) rs763365429
NM_152594.3(SPRED1):c.52C>A (p.Arg18=) rs750777752
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.530C>T (p.Pro177Leu)
NM_152594.3(SPRED1):c.531C>G (p.Pro177=) rs1595756882
NM_152594.3(SPRED1):c.531C>T (p.Pro177=) rs1595756882
NM_152594.3(SPRED1):c.538G>T (p.Asp180Tyr) rs1375474473
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.549C>T (p.Ala183=) rs2542723953
NM_152594.3(SPRED1):c.552A>G (p.Arg184=) rs2141007956
NM_152594.3(SPRED1):c.556G>A (p.Val186Ile) rs2542723979
NM_152594.3(SPRED1):c.560A>G (p.Tyr187Cys)
NM_152594.3(SPRED1):c.561C>A (p.Tyr187Ter)
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.565C>T (p.Gln189Ter) rs200142785
NM_152594.3(SPRED1):c.567A>T (p.Gln189His) rs764990934
NM_152594.3(SPRED1):c.574_582+14dup rs2542724051
NM_152594.3(SPRED1):c.580C>T (p.Gln194Ter)
NM_152594.3(SPRED1):c.582+16A>G rs1895996789
NM_152594.3(SPRED1):c.582+22del rs2542724138
NM_152594.3(SPRED1):c.582+4A>C rs2542724100
NM_152594.3(SPRED1):c.582G>T (p.Gln194His)
NM_152594.3(SPRED1):c.583-18A>C rs2141014785
NM_152594.3(SPRED1):c.583-20A>T
NM_152594.3(SPRED1):c.583-8T>C rs755068474
NM_152594.3(SPRED1):c.584T>A (p.Ile195Lys) rs1166488554
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala) rs1186657394
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.60G>A (p.Val20=) rs367745143
NM_152594.3(SPRED1):c.611T>C (p.Ile204Thr) rs1227245527
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) rs2141014847
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg) rs779879921
NM_152594.3(SPRED1):c.619A>C (p.Arg207=) rs368660900
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) rs368660900
NM_152594.3(SPRED1):c.626T>C (p.Met209Thr)
NM_152594.3(SPRED1):c.630A>T (p.Glu210Asp) rs2141014874
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
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.659G>A (p.Cys220Tyr) rs1896209096
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg) rs1896209442
NM_152594.3(SPRED1):c.66G>A (p.Met22Ile)
NM_152594.3(SPRED1):c.675C>G (p.Ser225=)
NM_152594.3(SPRED1):c.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.677A>C (p.Gln226Pro) rs2542739466
NM_152594.3(SPRED1):c.684+10G>A rs1555392611
NM_152594.3(SPRED1):c.684+13A>G rs1335075291
NM_152594.3(SPRED1):c.684+1G>T rs752775519
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.685-13G>A rs2542742290
NM_152594.3(SPRED1):c.685-15_685-14del rs566051898
NM_152594.3(SPRED1):c.685-17A>T rs1223645192
NM_152594.3(SPRED1):c.685-3_685-2insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTATCTGTTTCTTTTTT rs2542742264
NM_152594.3(SPRED1):c.685-3dup
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.687C>T (p.Val229=) rs376226762
NM_152594.3(SPRED1):c.689C>G (p.Pro230Arg) rs2141016004
NM_152594.3(SPRED1):c.691T>G (p.Leu231Val)
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs) rs2542742348
NM_152594.3(SPRED1):c.69C>T (p.Thr23=) rs755788325
NM_152594.3(SPRED1):c.700dup (p.Ile234fs) rs2542742376
NM_152594.3(SPRED1):c.706C>T (p.His236Tyr) rs2542742399
NM_152594.3(SPRED1):c.714C>G (p.Ser238Arg)
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs) rs2542742417
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter) rs2542742440
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.751C>A (p.Arg251=) rs1172820756
NM_152594.3(SPRED1):c.753A>T (p.Arg251=) rs1042940854
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser) rs1187107780
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.773A>G (p.Tyr258Cys) rs2141016090
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690
NM_152594.3(SPRED1):c.777A>T (p.Ala259=) rs1888473597
NM_152594.3(SPRED1):c.782A>G (p.Tyr261Cys) rs2542742581
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter) rs1888473716
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) rs2141016108
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu) rs1340143366
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.798G>A (p.Met266Ile) rs2542742655
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) rs1595763557
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.837T>C (p.Ser279=)
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter) rs755557783
NM_152594.3(SPRED1):c.843G>A (p.Gln281=) rs1373204659
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.861T>C (p.Ser287=) rs2542742815
NM_152594.3(SPRED1):c.867dup (p.Ser290fs) rs1424526290
NM_152594.3(SPRED1):c.872A>T (p.Asp291Val) rs2542742860
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val) rs1888476201
NM_152594.3(SPRED1):c.877C>T (p.Leu293=)
NM_152594.3(SPRED1):c.879G>C (p.Leu293=) rs535687467
NM_152594.3(SPRED1):c.87_88dup (p.Gly30fs)
NM_152594.3(SPRED1):c.880_881dup (p.Ser295fs) rs1555392750
NM_152594.3(SPRED1):c.883T>C (p.Ser295Pro) rs2542742899
NM_152594.3(SPRED1):c.885T>C (p.Ser295=) rs1888476496
NM_152594.3(SPRED1):c.88G>A (p.Gly30Arg) rs2542660889
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.898A>G (p.Thr300Ala) rs1888477050
NM_152594.3(SPRED1):c.89G>T (p.Gly30Val) rs1317038482
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) rs1595763656
NM_152594.3(SPRED1):c.902A>C (p.Lys301Thr) rs2542742994
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906A>C (p.Leu302Phe)
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659
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.90A>C (p.Gly30=) rs2542660900
NM_152594.3(SPRED1):c.912A>G (p.Ser304=) rs2141016283
NM_152594.3(SPRED1):c.915C>G (p.Pro305=) rs2141016292
NM_152594.3(SPRED1):c.916A>G (p.Lys306Glu) rs1300035418
NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter) rs1300035418
NM_152594.3(SPRED1):c.917A>G (p.Lys306Arg) rs1888477642
NM_152594.3(SPRED1):c.922T>A (p.Ser308Thr) rs765841849
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.926_927del (p.Val309fs) rs2141016305
NM_152594.3(SPRED1):c.931T>C (p.Phe311Leu) rs375700452
NM_152594.3(SPRED1):c.932_933del (p.Val310_Phe311insTer) rs2542743104
NM_152594.3(SPRED1):c.939G>T (p.Thr313=) rs140644874
NM_152594.3(SPRED1):c.943C>T (p.Pro315Ser) rs2542743162
NM_152594.3(SPRED1):c.948C>G (p.Ser316=) rs1595763720
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter) rs2542743179
NM_152594.3(SPRED1):c.958A>G (p.Ile320Val) rs2542743220
NM_152594.3(SPRED1):c.958A>T (p.Ile320Phe)
NM_152594.3(SPRED1):c.958dup (p.Ile320fs) rs2542743206
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.967T>G (p.Ser323Ala) rs2542743286
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs) rs2542660907
NM_152594.3(SPRED1):c.973C>G (p.Arg325Gly) rs1057518683
NM_152594.3(SPRED1):c.976A>T (p.Arg326Ter)
NM_152594.3(SPRED1):c.977G>C (p.Arg326Thr) rs750890621
NM_152594.3(SPRED1):c.985G>T (p.Asp329Tyr) rs756634323
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp) rs1461391044
NM_152594.3(SPRED1):c.993A>G (p.Glu331=) rs2542743409
NM_152594.3(SPRED1):c.994C>T (p.Arg332Cys)
NM_152594.3(SPRED1):c.9G>A (p.Glu3=) rs1429162267

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