ClinVar Miner

List of variants in gene DES studied for myofibrillar myopathy 1

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 979
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001927.4(DES):c.579-38C>T rs12991025 0.50005
NC_000002.12:g.219426752T>C rs11685408 0.49560
NM_001927.4(DES):c.1014G>C (p.Leu338=) rs12920 0.37027
NM_001927.4(DES):c.828C>T (p.Asp276=) rs1058261 0.36815
NM_001927.4(DES):c.1104G>A (p.Ala368=) rs1058284 0.36806
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_001927.4(DES):c.*468G>T rs73085265 0.02797
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001927.4(DES):c.*662G>A rs116635264 0.01332
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001927.4(DES):c.*308C>A rs140222667 0.00235
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_001927.4(DES):c.*475T>G rs138913201 0.00131
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00093
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00059
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001927.4(DES):c.640-16G>A rs181712657 0.00028
NM_001927.4(DES):c.*280G>A rs925513578 0.00024
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001927.4(DES):c.1288+20C>T rs200657337 0.00018
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392 0.00015
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 0.00014
NM_001927.4(DES):c.*198G>A rs560055588 0.00013
NM_001927.4(DES):c.*51C>A rs372291142 0.00013
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00013
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_001927.4(DES):c.897+16C>T rs370385097 0.00011
NM_001927.4(DES):c.*588G>A rs746886224 0.00010
NM_001927.4(DES):c.1024-11C>A rs566280820 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001927.4(DES):c.540C>T (p.Arg180=) rs757644636 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001927.4(DES):c.699C>T (p.Asn233=) rs758066814 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_001927.4(DES):c.*114G>T rs755277387 0.00007
NM_001927.4(DES):c.1011C>T (p.Ala337=) rs369537705 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001927.4(DES):c.*489G>A rs886055655 0.00006
NM_001927.4(DES):c.*695C>T rs1452548510 0.00006
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_001927.4(DES):c.99C>T (p.Pro33=) rs774006810 0.00006
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_001927.4(DES):c.*112C>G rs540351476 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.1289-18C>T rs367712053 0.00004
NM_001927.4(DES):c.268G>C (p.Asp90His) rs1267102255 0.00004
NM_001927.4(DES):c.639+18C>T rs768129908 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001927.4(DES):c.*559G>A rs547498920 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_001927.4(DES):c.1064G>A (p.Arg355Gln) rs61368398 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_001927.4(DES):c.233G>T (p.Arg78Leu) rs573916832 0.00003
NM_001927.4(DES):c.367A>G (p.Ile123Val) rs376048590 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.461T>A (p.Leu154His) rs755106109 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_001927.4(DES):c.936C>T (p.Asp312=) rs769213907 0.00003
NM_001927.4(DES):c.1008C>T (p.Asp336=) rs531293539 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1099A>C (p.Ile367Leu) rs62636494 0.00002
NM_001927.4(DES):c.1116G>A (p.Glu372=) rs752030448 0.00002
NM_001927.4(DES):c.1280A>G (p.Asn427Ser) rs142712150 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.188C>A (p.Ala63Asp) rs1345937895 0.00002
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.199G>A (p.Gly67Arg) rs753419517 0.00002
NM_001927.4(DES):c.212C>T (p.Ala71Val) rs759235186 0.00002
NM_001927.4(DES):c.258C>G (p.Gly86=) rs994454109 0.00002
NM_001927.4(DES):c.295C>G (p.Gln99Glu) rs794728992 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 0.00002
NM_001927.4(DES):c.414C>G (p.Ala138=) rs1445220768 0.00002
NM_001927.4(DES):c.489G>A (p.Arg163=) rs1448975712 0.00002
NM_001927.4(DES):c.566G>A (p.Arg189Gln) rs1025323214 0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436 0.00002
NM_001927.4(DES):c.639G>A (p.Ala213=) rs377337947 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.690A>G (p.Glu230=) rs142145822 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 0.00002
NM_001927.4(DES):c.897+13G>A rs201433470 0.00002
NM_001927.4(DES):c.933C>T (p.Asn311=) rs756434148 0.00002
NM_001927.4(DES):c.993C>T (p.Tyr331=) rs200858541 0.00002
NM_001927.4(DES):c.*428G>C rs886055654 0.00001
NM_001927.4(DES):c.1023+14C>T rs899305731 0.00001
NM_001927.4(DES):c.1023+15A>G rs755376246 0.00001
NM_001927.4(DES):c.1023+6T>G rs1039179103 0.00001
NM_001927.4(DES):c.1023+8C>A rs749582840 0.00001
NM_001927.4(DES):c.1024-9C>T rs201552590 0.00001
NM_001927.4(DES):c.1027G>A (p.Asp343Asn) rs763903197 0.00001
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1047G>A (p.Met349Ile) rs375005961 0.00001
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280 0.00001
NM_001927.4(DES):c.1055T>C (p.Leu352Ser) rs775085773 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.10G>A (p.Ala4Thr) rs1239304442 0.00001
NM_001927.4(DES):c.1103C>T (p.Ala368Val) rs371830218 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1142T>C (p.Met381Thr) rs779749720 0.00001
NM_001927.4(DES):c.1147C>T (p.Arg383Cys) rs748945548 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1156C>T (p.Arg386Cys) rs369765867 0.00001
NM_001927.4(DES):c.1179C>T (p.Asn393=) rs955390251 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1189G>T (p.Ala397Ser) rs727502951 0.00001
NM_001927.4(DES):c.1191C>T (p.Ala397=) rs1157219537 0.00001
NM_001927.4(DES):c.1209C>T (p.Ala403=) rs200054661 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1227G>A (p.Leu409=) rs143954788 0.00001
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467 0.00001
NM_001927.4(DES):c.1250A>G (p.Asn417Ser) rs376141178 0.00001
NM_001927.4(DES):c.1258A>C (p.Ile420Leu) rs1427557970 0.00001
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.12C>A (p.Ala4=) rs762566962 0.00001
NM_001927.4(DES):c.1300G>A (p.Glu434Lys) rs952020807 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1335G>A (p.Thr445=) rs780984657 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_001927.4(DES):c.1407G>A (p.Val469=) rs1273197280 0.00001
NM_001927.4(DES):c.146T>C (p.Val49Ala) rs794728989 0.00001
NM_001927.4(DES):c.150G>T (p.Thr50=) rs1179760415 0.00001
NM_001927.4(DES):c.155G>C (p.Arg52Pro) rs1372689272 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_001927.4(DES):c.217C>A (p.Arg73=) rs1954367704 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.225G>A (p.Gly75=) rs777582958 0.00001
NM_001927.4(DES):c.237G>A (p.Thr79=) rs727503899 0.00001
NM_001927.4(DES):c.254_255insT (p.Gly86fs) rs1273708097 0.00001
NM_001927.4(DES):c.261G>A (p.Glu87=) rs770325337 0.00001
NM_001927.4(DES):c.273C>T (p.Phe91=) rs1025329460 0.00001
NM_001927.4(DES):c.280G>A (p.Ala94Thr) rs1163703259 0.00001
NM_001927.4(DES):c.282C>G (p.Ala94=) rs397516693 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.28C>T (p.Arg10Cys) rs1196125127 0.00001
NM_001927.4(DES):c.291G>A (p.Val97=) rs775205419 0.00001
NM_001927.4(DES):c.298G>A (p.Glu100Lys) rs1434605523 0.00001
NM_001927.4(DES):c.29G>A (p.Arg10His) rs757839952 0.00001
NM_001927.4(DES):c.300G>A (p.Glu100=) rs1339030541 0.00001
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.348T>C (p.Asn116=) rs766333303 0.00001
NM_001927.4(DES):c.357C>T (p.Phe119=) rs1156903614 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.371A>G (p.Glu124Gly) rs564121737 0.00001
NM_001927.4(DES):c.402G>A (p.Ala134=) rs369297392 0.00001
NM_001927.4(DES):c.411C>G (p.Ala137=) rs549278754 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.469G>A (p.Glu157Lys) rs1265299630 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.49A>T (p.Thr17Ser) rs1342928312 0.00001
NM_001927.4(DES):c.516G>A (p.Gln172=) rs1014762661 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.524G>A (p.Arg175His) rs878854472 0.00001
NM_001927.4(DES):c.534C>T (p.Val178=) rs1163205960 0.00001
NM_001927.4(DES):c.541G>A (p.Asp181Asn) rs1297244198 0.00001
NM_001927.4(DES):c.545A>C (p.Asn182Thr) rs1358211194 0.00001
NM_001927.4(DES):c.54C>T (p.Phe18=) rs1420981881 0.00001
NM_001927.4(DES):c.552C>T (p.Leu184=) rs1050510822 0.00001
NM_001927.4(DES):c.559C>T (p.Leu187=) rs1314756792 0.00001
NM_001927.4(DES):c.560T>G (p.Leu187Arg) rs1248833348 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.58G>A (p.Gly20Arg) rs759306707 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.598T>C (p.Leu200=) rs1320454372 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.603G>C (p.Lys201Asn) rs765376573 0.00001
NM_001927.4(DES):c.60G>A (p.Gly20=) rs1058253 0.00001
NM_001927.4(DES):c.615G>C (p.Glu205Asp) rs1295010624 0.00001
NM_001927.4(DES):c.621T>C (p.Asn207=) rs763036386 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.640-10C>T rs750812904 0.00001
NM_001927.4(DES):c.640-17C>T rs762068048 0.00001
NM_001927.4(DES):c.640-4C>G rs375680081 0.00001
NM_001927.4(DES):c.65C>G (p.Pro22Arg) rs748158450 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.673C>T (p.Leu225=) rs774330779 0.00001
NM_001927.4(DES):c.679C>T (p.Arg227Cys) rs767743962 0.00001
NM_001927.4(DES):c.694C>T (p.Leu232Phe) rs764764823 0.00001
NM_001927.4(DES):c.710C>T (p.Ala237Val) rs374144840 0.00001
NM_001927.4(DES):c.714C>T (p.Phe238=) rs780896752 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.746A>C (p.Glu249Ala) rs1256488465 0.00001
NM_001927.4(DES):c.757C>T (p.Gln253Ter) rs1187516594 0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr) rs1457398926 0.00001
NM_001927.4(DES):c.797C>T (p.Ser266Phe) rs1316058461 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.816C>T (p.Ala272=) rs759823001 0.00001
NM_001927.4(DES):c.817G>A (p.Ala273Thr) rs770258461 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001927.4(DES):c.853G>A (p.Ala285Thr) rs876657771 0.00001
NM_001927.4(DES):c.854C>T (p.Ala285Val) rs1368507241 0.00001
NM_001927.4(DES):c.855G>A (p.Ala285=) rs139818514 0.00001
NM_001927.4(DES):c.883T>G (p.Trp295Gly) rs794728986 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 0.00001
NM_001927.4(DES):c.894G>A (p.Ser298=) rs747073500 0.00001
NM_001927.4(DES):c.897+12C>T rs771116995 0.00001
NM_001927.4(DES):c.897+17G>A rs137945254 0.00001
NM_001927.4(DES):c.897+4G>A rs1329171337 0.00001
NM_001927.4(DES):c.898-5C>T rs371053066 0.00001
NM_001927.4(DES):c.912C>T (p.Thr304=) rs778826152 0.00001
NM_001927.4(DES):c.91A>T (p.Ser31Cys) rs1553603207 0.00001
NM_001927.4(DES):c.943C>T (p.Arg315Cys) rs748742357 0.00001
NM_001927.4(DES):c.974G>A (p.Arg325Gln) rs766035912 0.00001
NC_000002.11:g.(?_220283185)_(220290712_?)del
NC_000002.11:g.(?_220283513)_(220299541_?)del
NC_000002.11:g.(?_220284797)_(220284897_?)dup
NC_000002.11:g.(?_220286089)_(220292091_?)del
NC_000002.11:g.(?_220288441)_(220288541_?)dup
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000002.12:g.(?_219420241)_(219426000_?)dup
NC_000002.12:g.(?_219420485)_(219426000_?)dup
NM_001927.4(DES):c.*295G>A rs1954536782
NM_001927.4(DES):c.1000G>A (p.Glu334Lys) rs1227068284
NM_001927.4(DES):c.1002G>A (p.Glu334=)
NM_001927.4(DES):c.1002G>T (p.Glu334Asp)
NM_001927.4(DES):c.1004T>C (p.Ile335Thr) rs1954429245
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1009G>T (p.Ala337Ser) rs59962885
NM_001927.4(DES):c.100G>A (p.Val34Met)
NM_001927.4(DES):c.1010C>A (p.Ala337Asp) rs1954429477
NM_001927.4(DES):c.1013T>C (p.Leu338Pro) rs57496341
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
NM_001927.4(DES):c.1017G>C (p.Lys339Asn) rs1954429823
NM_001927.4(DES):c.1019G>A (p.Gly340Asp) rs1559353118
NM_001927.4(DES):c.1022C>T (p.Thr341Ile) rs1338606921
NM_001927.4(DES):c.1023+10T>C
NM_001927.4(DES):c.1023+11G>A
NM_001927.4(DES):c.1023+5G>A
NM_001927.4(DES):c.1023+5G>C
NM_001927.4(DES):c.1023+6_1023+24dup
NM_001927.4(DES):c.1024-10T>C
NM_001927.4(DES):c.1024-10del
NM_001927.4(DES):c.1024-11C>T rs566280820
NM_001927.4(DES):c.1024-11dup rs1954436789
NM_001927.4(DES):c.1024-13C>G
NM_001927.4(DES):c.1024-14C>T rs1954436833
NM_001927.4(DES):c.1024-17T>C rs756252550
NM_001927.4(DES):c.1024-17T>G rs756252550
NM_001927.4(DES):c.1024-18G>T rs1272088858
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1024-6C>G
NM_001927.4(DES):c.1024-7C>T rs779098835
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1027_1032dup (p.Asp343_Ser344dup) rs1954437523
NM_001927.4(DES):c.1030T>C (p.Ser344Pro) rs886044226
NM_001927.4(DES):c.1031C>G (p.Ser344Cys)
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1035G>A (p.Leu345=)
NM_001927.4(DES):c.103T>C (p.Phe35Leu)
NM_001927.4(DES):c.1041G>A (p.Arg347=) rs2125168616
NM_001927.4(DES):c.1042C>T (p.Gln348Ter)
NM_001927.4(DES):c.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1043A>T (p.Gln348Leu) rs1411703397
NM_001927.4(DES):c.1045A>G (p.Met349Val)
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1049G>T (p.Arg350Leu) rs57965306
NM_001927.4(DES):c.104T>C (p.Phe35Ser) rs1575012999
NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)
NM_001927.4(DES):c.1059G>A (p.Glu353=) rs1575014856
NM_001927.4(DES):c.105C>G (p.Phe35Leu) rs768166041
NM_001927.4(DES):c.1062C>A (p.Asp354Glu)
NM_001927.4(DES):c.1062C>T (p.Asp354=)
NM_001927.4(DES):c.1063C>G (p.Arg355Gly) rs762808690
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.106C>T (p.Pro36Ser)
NM_001927.4(DES):c.1074T>C (p.Ser358=)
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1077G>A (p.Glu359=)
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1078G>T (p.Ala360Ser) rs121913000
NM_001927.4(DES):c.1084G>A (p.Gly362Ser)
NM_001927.4(DES):c.1085G>A (p.Gly362Asp)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1090C>T (p.Gln364Ter) rs1224165687
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.1092G>T (p.Gln364His)
NM_001927.4(DES):c.1093G>C (p.Asp365His)
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1097A>G (p.Asn366Ser)
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.109C>G (p.Arg37Gly) rs537881554
NM_001927.4(DES):c.1100T>C (p.Ile367Thr) rs1480755998
NM_001927.4(DES):c.1101T>A (p.Ile367=)
NM_001927.4(DES):c.1101T>C (p.Ile367=) rs1575014904
NM_001927.4(DES):c.1103_1104delinsTA (p.Ala368Val) rs2125168708
NM_001927.4(DES):c.1104_1105delinsAT (p.Arg369Cys) rs2125168717
NM_001927.4(DES):c.1106G>A (p.Arg369His)
NM_001927.4(DES):c.1106G>T (p.Arg369Leu) rs1168604493
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.110G>T (p.Arg37Leu) rs1954363342
NM_001927.4(DES):c.1110GGA[2] (p.Glu373del) rs2125168730
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
NM_001927.4(DES):c.1118A>C (p.Glu373Ala)
NM_001927.4(DES):c.1119A>C (p.Glu373Asp) rs780628142
NM_001927.4(DES):c.1122C>A (p.Ile374=)
NM_001927.4(DES):c.1124G>A (p.Arg375Gln)
NM_001927.4(DES):c.1126C>G (p.His376Asp)
NM_001927.4(DES):c.1127A>G (p.His376Arg)
NM_001927.4(DES):c.112del (p.Ala38fs) rs2125165857
NM_001927.4(DES):c.1130T>C (p.Leu377Pro) rs1432061016
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
NM_001927.4(DES):c.1133A>G (p.Lys378Arg) rs202010947
NM_001927.4(DES):c.1134G>A (p.Lys378=) rs1575014950
NM_001927.4(DES):c.1144G>A (p.Ala382Thr) rs1954441688
NM_001927.4(DES):c.1146C>T (p.Ala382=)
NM_001927.4(DES):c.1147C>A (p.Arg383Ser) rs748945548
NM_001927.4(DES):c.1148G>C (p.Arg383Pro) rs1292042317
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.114G>C (p.Ala38=)
NM_001927.4(DES):c.114G>T (p.Ala38=) rs368901105
NM_001927.4(DES):c.1151A>C (p.His384Pro)
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_001927.4(DES):c.1153C>G (p.Leu385Val) rs1393155504
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.1158_1160del (p.Glu387del) rs1559353314
NM_001927.4(DES):c.1159G>A (p.Glu387Lys) rs865961434
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1166A>G (p.Gln389Arg)
NM_001927.4(DES):c.116G>A (p.Gly39Asp)
NM_001927.4(DES):c.116G>C (p.Gly39Ala)
NM_001927.4(DES):c.1171del (p.Leu391fs)
NM_001927.4(DES):c.1172T>C (p.Leu391Pro) rs1954443135
NM_001927.4(DES):c.1172T>G (p.Leu391Arg) rs1954443135
NM_001927.4(DES):c.1175T>G (p.Leu392Arg)
NM_001927.4(DES):c.1176C>G (p.Leu392=) rs1553603568
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1180G>T (p.Val394Leu) rs776786349
NM_001927.4(DES):c.1185G>A (p.Lys395=) rs1386068029
NM_001927.4(DES):c.1187T>C (p.Met396Thr)
NM_001927.4(DES):c.1189G>A (p.Ala397Thr) rs727502951
NM_001927.4(DES):c.1193T>C (p.Leu398Pro) rs796115330
NM_001927.4(DES):c.1193del (p.Leu398fs) rs2125168879
NM_001927.4(DES):c.1195G>T (p.Asp399Tyr) rs61130669
NM_001927.4(DES):c.119dup (p.Gly41fs)
NM_001927.4(DES):c.11C>A (p.Ala4Asp)
NM_001927.4(DES):c.1200G>A (p.Val400=)
NM_001927.4(DES):c.1201G>A (p.Glu401Lys) rs57694264
NM_001927.4(DES):c.1202A>G (p.Glu401Gly) rs1954444202
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1205T>G (p.Ile402Ser) rs1553603571
NM_001927.4(DES):c.1208C>A (p.Ala403Asp)
NM_001927.4(DES):c.1213T>C (p.Tyr405His)
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
NM_001927.4(DES):c.1214A>C (p.Tyr405Ser) rs2125168913
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1217G>C (p.Arg406Pro)
NM_001927.4(DES):c.1218G>C (p.Arg406=)
NM_001927.4(DES):c.1218G>T (p.Arg406=)
NM_001927.4(DES):c.1219A>C (p.Lys407Gln) rs1553603573
NM_001927.4(DES):c.1224G>A (p.Leu408=) rs1454100254
NM_001927.4(DES):c.1227G>T (p.Leu409=) rs143954788
NM_001927.4(DES):c.1228G>A (p.Glu410Lys) rs2125168940
NM_001927.4(DES):c.1236G>A (p.Glu412=)
NM_001927.4(DES):c.1236G>T (p.Glu412Asp)
NM_001927.4(DES):c.1237G>A (p.Glu413Lys) rs61726467
NM_001927.4(DES):c.1238A>G (p.Glu413Gly) rs1954445270
NM_001927.4(DES):c.123C>T (p.Gly41=) rs1575013025
NM_001927.4(DES):c.1240A>G (p.Ser414Gly)
NM_001927.4(DES):c.1243C>G (p.Arg415Gly) rs751942358
NM_001927.4(DES):c.1243del (p.Arg415fs) rs1954445390
NM_001927.4(DES):c.1244+12G>T
NM_001927.4(DES):c.1244+13G>A
NM_001927.4(DES):c.1244+17G>A
NM_001927.4(DES):c.1244+17G>C rs750992468
NM_001927.4(DES):c.1244+1G>A
NM_001927.4(DES):c.1244+20C>T rs1205670028
NM_001927.4(DES):c.1244+8G>A
NM_001927.4(DES):c.1244G>A (p.Arg415Gln) rs1262288015
NM_001927.4(DES):c.1245-11T>C
NM_001927.4(DES):c.1245-14C>T
NM_001927.4(DES):c.1245-17del
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1245-6T>C
NM_001927.4(DES):c.1245-7C>G
NM_001927.4(DES):c.1245G>A (p.Arg415=)
NM_001927.4(DES):c.1248C>G (p.Ile416Met)
NM_001927.4(DES):c.1255C>A (p.Pro419Thr) rs62635763
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1259T>C (p.Ile420Thr)
NM_001927.4(DES):c.1260C>T (p.Ile420=) rs397516688
NM_001927.4(DES):c.1262A>G (p.Gln421Arg) rs756613339
NM_001927.4(DES):c.1266C>A (p.Thr422=) rs1954487738
NM_001927.4(DES):c.1269C>T (p.Tyr423=) rs765867148
NM_001927.4(DES):c.1273G>C (p.Ala425Pro)
NM_001927.4(DES):c.1279A>T (p.Asn427Tyr) rs1954488237
NM_001927.4(DES):c.1281C>T (p.Asn427=) rs17853018
NM_001927.4(DES):c.1285del (p.Arg429fs) rs1954488513
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1288+11G>A rs2125170600
NM_001927.4(DES):c.1288+14G>A
NM_001927.4(DES):c.1288+2T>C
NM_001927.4(DES):c.1288G>A (p.Glu430Lys)
NM_001927.4(DES):c.1288G>C (p.Glu430Gln) rs1042793960
NM_001927.4(DES):c.1289-10C>T
NM_001927.4(DES):c.1289-11C>A
NM_001927.4(DES):c.1289-11C>T
NM_001927.4(DES):c.1289-15T>C
NM_001927.4(DES):c.1289-17G>A
NM_001927.4(DES):c.1289-19G>A
NM_001927.4(DES):c.1289-19G>T rs2125171911
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1289-3C>T
NM_001927.4(DES):c.1289-9C>T
NM_001927.4(DES):c.1293C>T (p.Thr431=) rs2125171932
NM_001927.4(DES):c.1298C>T (p.Pro433Leu)
NM_001927.4(DES):c.12C>G (p.Ala4=) rs762566962
NM_001927.4(DES):c.1301A>G (p.Glu434Gly)
NM_001927.4(DES):c.1303C>A (p.Gln435Lys)
NM_001927.4(DES):c.1303C>G (p.Gln435Glu)
NM_001927.4(DES):c.130G>A (p.Gly44Ser) rs1064794869
NM_001927.4(DES):c.1310G>A (p.Gly437Asp) rs878854471
NM_001927.4(DES):c.1312T>G (p.Ser438Ala) rs1553603818
NM_001927.4(DES):c.1313C>A (p.Ser438Tyr)
NM_001927.4(DES):c.1317G>A (p.Glu439=) rs1575016807
NM_001927.4(DES):c.131G>T (p.Gly44Val) rs1954364360
NM_001927.4(DES):c.1322A>C (p.His441Pro)
NM_001927.4(DES):c.1322A>T (p.His441Leu) rs1064796937
NM_001927.4(DES):c.1323T>G (p.His441Gln) rs751325263
NM_001927.4(DES):c.1324A>C (p.Thr442Pro) rs794728995
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1334C>T (p.Thr445Met)
NM_001927.4(DES):c.1335G>T (p.Thr445=)
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1348A>G (p.Thr450Ala)
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1349C>T (p.Thr450Ile)
NM_001927.4(DES):c.1350C>G (p.Thr450=)
NM_001927.4(DES):c.1353C>A (p.Ile451=)
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1354_1358del (p.Glu452fs) rs1060503171
NM_001927.4(DES):c.1356G>A (p.Glu452=)
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1359A>C (p.Thr453=) rs1397831288
NM_001927.4(DES):c.1359A>T (p.Thr453=)
NM_001927.4(DES):c.135C>G (p.Ser45=)
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1363G>A (p.Asp455Asn)
NM_001927.4(DES):c.1364A>T (p.Asp455Val) rs2125172066
NM_001927.4(DES):c.1365del (p.Asp455fs)
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1368G>A (p.Gly456=) rs962437326
NM_001927.4(DES):c.1371+13T>G rs2125172082
NM_001927.4(DES):c.1371+1G>T
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1371+3A>T
NM_001927.4(DES):c.1372-15T>A rs202245617
NM_001927.4(DES):c.1372-1G>A
NM_001927.4(DES):c.1372-2A>G
NM_001927.4(DES):c.1372-3C>T
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1372-6C>T
NM_001927.4(DES):c.1372-7T>C rs889499879
NM_001927.4(DES):c.1372-8C>T rs794727968
NM_001927.4(DES):c.1374C>T (p.Val458=) rs727502952
NM_001927.4(DES):c.1379G>A (p.Ser460Asn)
NM_001927.4(DES):c.1383G>A (p.Glu461=) rs2125172248
NM_001927.4(DES):c.1385_1386delinsAG (p.Ala462Glu) rs1060503170
NM_001927.4(DES):c.1386C>T (p.Ala462=)
NM_001927.4(DES):c.1388C>T (p.Thr463Ile)
NM_001927.4(DES):c.138C>A (p.Ser46=)
NM_001927.4(DES):c.1390C>T (p.Gln464Ter) rs2125172262
NM_001927.4(DES):c.1396C>T (p.Gln466Ter)
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.1408C>T (p.Leu470Phe) rs1060503172
NM_001927.4(DES):c.1409T>C (p.Leu470Pro) rs1954528633
NM_001927.4(DES):c.140G>T (p.Ser47Ile) rs2125165917
NM_001927.4(DES):c.1411T>C (p.Ter471Gln) rs886044329
NM_001927.4(DES):c.1412A>C (p.Ter471Ser) rs794728991
NM_001927.4(DES):c.141C>A (p.Ser47Arg) rs749028181
NM_001927.4(DES):c.152C>A (p.Ser51Tyr)
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.155G>A (p.Arg52His) rs1372689272
NM_001927.4(DES):c.156C>T (p.Arg52=)
NM_001927.4(DES):c.157G>A (p.Val53Met) rs1393972560
NM_001927.4(DES):c.157G>T (p.Val53Leu) rs1393972560
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.164A>T (p.Gln55Leu)
NM_001927.4(DES):c.166G>T (p.Val56Leu)
NM_001927.4(DES):c.171G>T (p.Ser57=)
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
NM_001927.4(DES):c.176C>T (p.Thr59Met) rs773826073
NM_001927.4(DES):c.179C>T (p.Ser60Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.17C>T (p.Ser6Leu) rs1214936508
NM_001927.4(DES):c.182G>A (p.Gly61Asp) rs1447436485
NM_001927.4(DES):c.185G>C (p.Gly62Ala)
NM_001927.4(DES):c.186G>T (p.Gly62=) rs1276880158
NM_001927.4(DES):c.188C>T (p.Ala63Val)
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
NM_001927.4(DES):c.194dup (p.Leu66fs) rs1370206753
NM_001927.4(DES):c.195C>T (p.Gly65=) rs1256584430
NM_001927.4(DES):c.198G>C (p.Leu66=)
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.204G>A (p.Ser68=)
NM_001927.4(DES):c.204_205delinsAT (p.Ser68_Leu69=)
NM_001927.4(DES):c.205C>T (p.Leu69=) rs2125166013
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.208C>T (p.Arg70Trp) rs2125166022
NM_001927.4(DES):c.209G>A (p.Arg70Gln)
NM_001927.4(DES):c.210G>A (p.Arg70=) rs761255472
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472
NM_001927.4(DES):c.211G>T (p.Ala71Ser)
NM_001927.4(DES):c.213C>T (p.Ala71=)
NM_001927.4(DES):c.214A>T (p.Ser72Cys)
NM_001927.4(DES):c.218G>T (p.Arg73Leu) rs752518966
NM_001927.4(DES):c.219G>A (p.Arg73=)
NM_001927.4(DES):c.221T>A (p.Leu74Gln) rs1164195329
NM_001927.4(DES):c.224G>A (p.Gly75Glu)
NM_001927.4(DES):c.228C>G (p.Thr76=) rs780233346
NM_001927.4(DES):c.228C>T (p.Thr76=)
NM_001927.4(DES):c.22A>G (p.Ser8Gly)
NM_001927.4(DES):c.230C>T (p.Thr77Ile) rs1392710887
NM_001927.4(DES):c.232C>T (p.Arg78Cys)
NM_001927.4(DES):c.235A>C (p.Thr79Pro)
NM_001927.4(DES):c.236C>A (p.Thr79Lys)
NM_001927.4(DES):c.236C>T (p.Thr79Met)
NM_001927.4(DES):c.238C>T (p.Pro80Ser)
NM_001927.4(DES):c.239CCT[2] (p.Ser82del)
NM_001927.4(DES):c.240C>T (p.Pro80=)
NM_001927.4(DES):c.244T>C (p.Ser82Pro)
NM_001927.4(DES):c.245C>T (p.Ser82Phe) rs1358038961
NM_001927.4(DES):c.246C>G (p.Ser82=)
NM_001927.4(DES):c.247T>C (p.Tyr83His) rs1954368990
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
NM_001927.4(DES):c.249C>T (p.Tyr83=) rs2125166116
NM_001927.4(DES):c.252C>T (p.Gly84=)
NM_001927.4(DES):c.253G>A (p.Ala85Thr)
NM_001927.4(DES):c.254C>T (p.Ala85Val)
NM_001927.4(DES):c.258C>A (p.Gly86=) rs994454109
NM_001927.4(DES):c.258C>T (p.Gly86=) rs994454109
NM_001927.4(DES):c.261G>T (p.Glu87Asp)
NM_001927.4(DES):c.264G>C (p.Leu88=)
NM_001927.4(DES):c.269A>C (p.Asp90Ala) rs1954369708
NM_001927.4(DES):c.269A>T (p.Asp90Val) rs1954369708
NM_001927.4(DES):c.275C>T (p.Ser92Leu) rs1954369865
NM_001927.4(DES):c.278T>C (p.Leu93Pro)
NM_001927.4(DES):c.281C>T (p.Ala94Val)
NM_001927.4(DES):c.284A>T (p.Asp95Val) rs1954370194
NM_001927.4(DES):c.285C>T (p.Asp95=) rs562875165
NM_001927.4(DES):c.287C>G (p.Ala96Gly)
NM_001927.4(DES):c.28C>A (p.Arg10Ser) rs1196125127
NM_001927.4(DES):c.292A>T (p.Asn98Tyr)
NM_001927.4(DES):c.294C>T (p.Asn98=)
NM_001927.4(DES):c.299A>G (p.Glu100Gly)
NM_001927.4(DES):c.2T>C (p.Met1Thr) rs2125165615
NM_001927.4(DES):c.2T>G (p.Met1Arg)
NM_001927.4(DES):c.300dup (p.Phe101fs)
NM_001927.4(DES):c.306G>A (p.Leu102=) rs2125166197
NM_001927.4(DES):c.307A>G (p.Thr103Ala)
NM_001927.4(DES):c.309C>T (p.Thr103=)
NM_001927.4(DES):c.309del (p.Thr104fs) rs2125166200
NM_001927.4(DES):c.30C>T (p.Arg10=) rs886042179
NM_001927.4(DES):c.310A>G (p.Thr104Ala) rs1559352310
NM_001927.4(DES):c.311C>G (p.Thr104Arg) rs980849177
NM_001927.4(DES):c.311C>T (p.Thr104Met) rs980849177
NM_001927.4(DES):c.312G>T (p.Thr104=)
NM_001927.4(DES):c.314G>T (p.Arg105Leu) rs1406795636
NM_001927.4(DES):c.319A>G (p.Asn107Asp) rs2125166213
NM_001927.4(DES):c.31G>A (p.Val11Met)
NM_001927.4(DES):c.31G>T (p.Val11Leu)
NM_001927.4(DES):c.320A>C (p.Asn107Thr) rs1156440628
NM_001927.4(DES):c.321C>A (p.Asn107Lys)
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.322del (p.Glu108fs)
NM_001927.4(DES):c.323A>G (p.Glu108Gly) rs1954371679
NM_001927.4(DES):c.325A>G (p.Lys109Glu) rs1954371825
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.32T>C (p.Val11Ala)
NM_001927.4(DES):c.334C>G (p.Leu112Val)
NM_001927.4(DES):c.335T>G (p.Leu112Arg) rs1954372144
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_001927.4(DES):c.339G>A (p.Gln113=)
NM_001927.4(DES):c.341A>G (p.Glu114Gly) rs2125166251
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
NM_001927.4(DES):c.343C>T (p.Leu115Phe)
NM_001927.4(DES):c.344T>C (p.Leu115Pro) rs2125166259
NM_001927.4(DES):c.345C>G (p.Leu115=)
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.347A>T (p.Asn116Ile) rs267607499
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.352C>A (p.Arg118Ser) rs1188232371
NM_001927.4(DES):c.352C>T (p.Arg118Cys) rs1188232371
NM_001927.4(DES):c.354C>G (p.Arg118=)
NM_001927.4(DES):c.358G>C (p.Ala120Pro) rs794728996
NM_001927.4(DES):c.359C>A (p.Ala120Asp) rs1954373010
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.360C>T (p.Ala120=) rs1553603246
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.365A>G (p.Tyr122Cys) rs1400593451
NM_001927.4(DES):c.367A>C (p.Ile123Leu)
NM_001927.4(DES):c.368T>G (p.Ile123Ser)
NM_001927.4(DES):c.36C>T (p.Ser12=)
NM_001927.4(DES):c.371A>C (p.Glu124Ala) rs564121737
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.376G>T (p.Val126Leu) rs876657770
NM_001927.4(DES):c.379C>G (p.Arg127Gly) rs868157645
NM_001927.4(DES):c.379C>T (p.Arg127Cys)
NM_001927.4(DES):c.37T>C (p.Ser13Pro) rs1954359599
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.382T>C (p.Phe128Leu)
NM_001927.4(DES):c.386T>G (p.Leu129Arg) rs1954374163
NM_001927.4(DES):c.38C>A (p.Ser13Tyr) rs62636495
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.399C>T (p.Asn133=)
NM_001927.4(DES):c.3G>A (p.Met1Ile)
NM_001927.4(DES):c.400_410del (p.Ala134fs)
NM_001927.4(DES):c.401C>A (p.Ala134Glu)
NM_001927.4(DES):c.404C>G (p.Ala135Gly) rs546741834
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.405G>A (p.Ala135=) rs1344076921
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.408C>A (p.Leu136=) rs111828114
NM_001927.4(DES):c.409G>A (p.Ala137Thr)
NM_001927.4(DES):c.410C>A (p.Ala137Asp) rs775115627
NM_001927.4(DES):c.411C>T (p.Ala137=) rs549278754
NM_001927.4(DES):c.415G>A (p.Glu139Lys) rs763769862
NM_001927.4(DES):c.418G>A (p.Val140Met) rs1377068684
NM_001927.4(DES):c.418G>C (p.Val140Leu) rs1377068684
NM_001927.4(DES):c.423C>T (p.Asn141=) rs1954375978
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.427C>G (p.Leu143Val) rs1954376231
NM_001927.4(DES):c.428T>C (p.Leu143Pro) rs1419950518
NM_001927.4(DES):c.428T>G (p.Leu143Arg)
NM_001927.4(DES):c.434G>A (p.Gly145Asp) rs1553603267
NM_001927.4(DES):c.435C>T (p.Gly145=)
NM_001927.4(DES):c.436C>G (p.Arg146Gly)
NM_001927.4(DES):c.438C>T (p.Arg146=)
NM_001927.4(DES):c.439G>C (p.Glu147Gln)
NM_001927.4(DES):c.43C>A (p.Arg15Ser) rs756390565
NM_001927.4(DES):c.43C>G (p.Arg15Gly)
NM_001927.4(DES):c.43C>T (p.Arg15Cys) rs756390565
NM_001927.4(DES):c.444G>A (p.Pro148=) rs767505861
NM_001927.4(DES):c.447G>C (p.Thr149=) rs1575013396
NM_001927.4(DES):c.449G>A (p.Arg150Gln) rs876661344
NM_001927.4(DES):c.452_459del (p.Val151fs) rs2125166454
NM_001927.4(DES):c.456C>G (p.Ala152=)
NM_001927.4(DES):c.456C>T (p.Ala152=)
NM_001927.4(DES):c.458A>G (p.Glu153Gly)
NM_001927.4(DES):c.459G>C (p.Glu153Asp)
NM_001927.4(DES):c.45C>T (p.Arg15=) rs1575012917
NM_001927.4(DES):c.462C>T (p.Leu154=)
NM_001927.4(DES):c.465C>T (p.Tyr155=) rs1458306248
NM_001927.4(DES):c.466G>A (p.Glu156Lys) rs765471098
NM_001927.4(DES):c.466G>C (p.Glu156Gln) rs765471098
NM_001927.4(DES):c.466GAG[2] (p.Glu158del)
NM_001927.4(DES):c.467A>T (p.Glu156Val) rs2125166482
NM_001927.4(DES):c.46C>A (p.Arg16Ser) rs60798368
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.473A>T (p.Glu158Val) rs1085307571
NM_001927.4(DES):c.477G>A (p.Leu159=) rs1423370718
NM_001927.4(DES):c.480G>A (p.Arg160=)
NM_001927.4(DES):c.481G>A (p.Glu161Lys)
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.482_490dup (p.Arg163_Arg164insGlnLeuArg)
NM_001927.4(DES):c.486G>A (p.Leu162=)
NM_001927.4(DES):c.488G>A (p.Arg163Gln) rs1457012198
NM_001927.4(DES):c.488_505dup (p.Arg163_Val168dup) rs1954378812
NM_001927.4(DES):c.494A>G (p.Gln165Arg) rs1369044757
NM_001927.4(DES):c.496G>A (p.Val166Met)
NM_001927.4(DES):c.49A>C (p.Thr17Pro)
NM_001927.4(DES):c.500A>G (p.Glu167Gly) rs1575013470
NM_001927.4(DES):c.500A>T (p.Glu167Val)
NM_001927.4(DES):c.501G>T (p.Glu167Asp) rs1277110592
NM_001927.4(DES):c.503T>G (p.Val168Gly)
NM_001927.4(DES):c.50C>A (p.Thr17Asn) rs1954360300
NM_001927.4(DES):c.512A>C (p.Asn171Thr)
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.515A>C (p.Gln172Pro) rs2125166557
NM_001927.4(DES):c.517C>G (p.Arg173Gly)
NM_001927.4(DES):c.518G>A (p.Arg173His)
NM_001927.4(DES):c.519C>A (p.Arg173=) rs758686466
NM_001927.4(DES):c.520G>A (p.Ala174Thr)
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.522G>A (p.Ala174=)
NM_001927.4(DES):c.523C>T (p.Arg175Cys)
NM_001927.4(DES):c.525C>A (p.Arg175=) rs1477068739
NM_001927.4(DES):c.525_526del (p.Val176fs) rs769096434
NM_001927.4(DES):c.525_526dup (p.Val176fs)
NM_001927.4(DES):c.528C>G (p.Val176=) rs1057522906
NM_001927.4(DES):c.528C>T (p.Val176=) rs1057522906
NM_001927.4(DES):c.529G>A (p.Asp177Asn) rs1057524813
NM_001927.4(DES):c.52T>A (p.Phe18Ile)
NM_001927.4(DES):c.530A>C (p.Asp177Ala)
NM_001927.4(DES):c.531C>A (p.Asp177Glu)
NM_001927.4(DES):c.536A>T (p.Glu179Val)
NM_001927.4(DES):c.537_554del (p.Glu179_Leu184del)
NM_001927.4(DES):c.539G>T (p.Arg180Leu)
NM_001927.4(DES):c.540C>G (p.Arg180=)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.543C>G (p.Asp181Glu)
NM_001927.4(DES):c.543C>T (p.Asp181=) rs1954382613
NM_001927.4(DES):c.544_555del (p.Asn182_Asp185del) rs1954382461
NM_001927.4(DES):c.544_558del (p.Asn182_Asp186del)
NM_001927.4(DES):c.546C>G (p.Asn182Lys)
NM_001927.4(DES):c.548T>C (p.Leu183Pro)
NM_001927.4(DES):c.549_564del (p.Leu184fs)
NM_001927.4(DES):c.553G>A (p.Asp185Asn)
NM_001927.4(DES):c.554A>T (p.Asp185Val)
NM_001927.4(DES):c.556G>A (p.Asp186Asn)
NM_001927.4(DES):c.556G>C (p.Asp186His)
NM_001927.4(DES):c.556G>T (p.Asp186Tyr) rs878854473
NM_001927.4(DES):c.558C>G (p.Asp186Glu) rs1575013561
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.560T>C (p.Leu187Pro) rs1248833348
NM_001927.4(DES):c.564G>T (p.Gln188His)
NM_001927.4(DES):c.566_567insCT (p.Leu190fs)
NM_001927.4(DES):c.567G>A (p.Arg189=)
NM_001927.4(DES):c.570C>G (p.Leu190=)
NM_001927.4(DES):c.571A>G (p.Lys191Glu) rs1483093429
NM_001927.4(DES):c.575C>T (p.Ala192Val) rs889191100
NM_001927.4(DES):c.578+10C>A
NM_001927.4(DES):c.578+10C>T rs969392028
NM_001927.4(DES):c.578+2T>C
NM_001927.4(DES):c.579-15G>C
NM_001927.4(DES):c.579-2A>C
NM_001927.4(DES):c.579-5C>A rs886042889
NM_001927.4(DES):c.586GAG[1] (p.Glu197del) rs1954405702
NM_001927.4(DES):c.591G>A (p.Glu197=) rs1440985603
NM_001927.4(DES):c.594T>C (p.Ile198=)
NM_001927.4(DES):c.599T>A (p.Leu200Ter) rs2125167364
NM_001927.4(DES):c.59G>A (p.Gly20Glu) rs2125165738
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.600G>A (p.Leu200=) rs1575014014
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.607G>A (p.Glu203Lys) rs2125167376
NM_001927.4(DES):c.610G>A (p.Ala204Thr) rs1575014034
NM_001927.4(DES):c.610G>T (p.Ala204Ser) rs1575014034
NM_001927.4(DES):c.615G>A (p.Glu205=) rs1295010624
NM_001927.4(DES):c.618C>A (p.Asn206Lys)
NM_001927.4(DES):c.61G>A (p.Ala21Thr)
NM_001927.4(DES):c.622T>C (p.Leu208=) rs764389526
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.623T>G (p.Leu208Trp)
NM_001927.4(DES):c.629C>T (p.Ala210Val) rs1060503169
NM_001927.4(DES):c.62C>A (p.Ala21Asp) rs755107287
NM_001927.4(DES):c.639+10C>T
NM_001927.4(DES):c.639+13_639+15del rs876657448
NM_001927.4(DES):c.639+16T>C
NM_001927.4(DES):c.639+17T>G rs1954407967
NM_001927.4(DES):c.639+4A>G
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.639+5G>A
NM_001927.4(DES):c.640-14T>C
NM_001927.4(DES):c.640-15C>A
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.640-2A>G rs267607492
NM_001927.4(DES):c.640-3C>T
NM_001927.4(DES):c.640-9C>T
NM_001927.4(DES):c.640G>T (p.Asp214Tyr) rs1954409882
NM_001927.4(DES):c.643G>C (p.Val215Leu)
NM_001927.4(DES):c.648T>C (p.Asp216=)
NM_001927.4(DES):c.650C>T (p.Ala217Val)
NM_001927.4(DES):c.658C>G (p.Leu220Val)
NM_001927.4(DES):c.65C>T (p.Pro22Leu)
NM_001927.4(DES):c.664C>G (p.Arg222Gly) rs374687448
NM_001927.4(DES):c.665G>T (p.Arg222Leu)
NM_001927.4(DES):c.669_670delinsCC (p.Asp224His) rs1954411290
NM_001927.4(DES):c.678G>A (p.Glu226=)
NM_001927.4(DES):c.680G>T (p.Arg227Leu) rs141486420
NM_001927.4(DES):c.681C>G (p.Arg227=)
NM_001927.4(DES):c.681C>T (p.Arg227=)
NM_001927.4(DES):c.683G>T (p.Arg228Ile)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.68G>C (p.Gly23Ala)
NM_001927.4(DES):c.694C>G (p.Leu232Val)
NM_001927.4(DES):c.696C>T (p.Leu232=) rs2125167618
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
NM_001927.4(DES):c.700G>T (p.Glu234Ter) rs774739275
NM_001927.4(DES):c.702G>A (p.Glu234=)
NM_001927.4(DES):c.705G>A (p.Glu235=) rs370836572
NM_001927.4(DES):c.709G>A (p.Ala237Thr) rs397516697
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.711G>A (p.Ala237=) rs757102249
NM_001927.4(DES):c.715C>T (p.Leu239Phe)
NM_001927.4(DES):c.717_725del (p.Lys240_Val242del)
NM_001927.4(DES):c.718A>G (p.Lys240Glu) rs1954413354
NM_001927.4(DES):c.720G>A (p.Lys240=)
NM_001927.4(DES):c.720_722del (p.Lys241del) rs2125167652
NM_001927.4(DES):c.722_724del (p.Lys241_Val242delinsMet)
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.729T>C (p.His243=) rs949090924
NM_001927.4(DES):c.732_735+3del
NM_001927.4(DES):c.734A>G (p.Glu245Gly) rs1575014243
NM_001927.4(DES):c.735+10G>A rs774435644
NM_001927.4(DES):c.735+10G>T rs774435644
NM_001927.4(DES):c.735+11G>A rs1559352868
NM_001927.4(DES):c.735+15C>T
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>C rs397516698
NM_001927.4(DES):c.735+1G>T rs397516698
NM_001927.4(DES):c.735+2T>G
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.735+3A>T rs267607483
NM_001927.4(DES):c.735+6C>A
NM_001927.4(DES):c.735+6C>T rs1302528006
NM_001927.4(DES):c.735+8T>C
NM_001927.4(DES):c.735+9T>C
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.735G>C (p.Glu245Asp) rs267607486
NM_001927.4(DES):c.735_735+3dup rs1954413969
NM_001927.4(DES):c.736-12C>G
NM_001927.4(DES):c.736-2A>T
NM_001927.4(DES):c.736-3C>A
NM_001927.4(DES):c.736-8C>T
NM_001927.4(DES):c.736-9G>A rs1553603433
NM_001927.4(DES):c.736G>A (p.Glu246Lys)
NM_001927.4(DES):c.738G>C (p.Glu246Asp) rs1954417703
NM_001927.4(DES):c.73C>G (p.Pro25Ala)
NM_001927.4(DES):c.742C>A (p.Arg248Ser)
NM_001927.4(DES):c.742C>T (p.Arg248Cys) rs772117708
NM_001927.4(DES):c.743G>A (p.Arg248His) rs375906682
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.749T>C (p.Leu250Ser)
NM_001927.4(DES):c.74_75insGCTCGGCTCCCC (p.Gly27_Leu30dup) rs1287075970
NM_001927.4(DES):c.74_75inv (p.Pro25Leu)
NM_001927.4(DES):c.75A>T (p.Pro25=) rs1318299
NM_001927.4(DES):c.760C>T (p.Leu254Phe)
NM_001927.4(DES):c.761T>G (p.Leu254Arg) rs1559352926
NM_001927.4(DES):c.762T>A (p.Leu254=)
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.768A>G (p.Glu256=) rs886044420
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
NM_001927.4(DES):c.770A>G (p.Gln257Arg) rs1954418582
NM_001927.4(DES):c.775G>A (p.Val259Ile)
NM_001927.4(DES):c.77T>A (p.Leu26His) rs1064796529
NM_001927.4(DES):c.788T>C (p.Met263Thr)
NM_001927.4(DES):c.78C>G (p.Leu26=) rs1252527107
NM_001927.4(DES):c.790G>A (p.Asp264Asn)
NM_001927.4(DES):c.793A>C (p.Met265Leu)
NM_001927.4(DES):c.793A>G (p.Met265Val)
NM_001927.4(DES):c.796T>C (p.Ser266Pro) rs1342331264
NM_001927.4(DES):c.79G>C (p.Gly27Arg) rs727504877
NM_001927.4(DES):c.7C>T (p.Gln3Ter) rs1954358233
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.807C>T (p.Asp269=)
NM_001927.4(DES):c.80G>A (p.Gly27Asp) rs1575012966
NM_001927.4(DES):c.811A>T (p.Thr271Ser) rs2125167886
NM_001927.4(DES):c.817G>C (p.Ala273Pro)
NM_001927.4(DES):c.817G>T (p.Ala273Ser) rs770258461
NM_001927.4(DES):c.821T>A (p.Leu274His)
NM_001927.4(DES):c.821T>C (p.Leu274Pro) rs267607494
NM_001927.4(DES):c.823A>C (p.Arg275=)
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.825G>A (p.Arg275=)
NM_001927.4(DES):c.826G>A (p.Asp276Asn) rs1436186019
NM_001927.4(DES):c.829_831del (p.Ile277del)
NM_001927.4(DES):c.830T>A (p.Ile277Asn) rs1459036752
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.833G>A (p.Arg278Gln)
NM_001927.4(DES):c.833G>C (p.Arg278Pro) rs761475402
NM_001927.4(DES):c.834G>C (p.Arg278=)
NM_001927.4(DES):c.839A>G (p.Gln280Arg) rs750160975
NM_001927.4(DES):c.840G>A (p.Gln280=) rs1954420895
NM_001927.4(DES):c.840G>C (p.Gln280His) rs1954420895
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.850A>G (p.Ile284Val)
NM_001927.4(DES):c.852C>T (p.Ile284=)
NM_001927.4(DES):c.854C>G (p.Ala285Gly)
NM_001927.4(DES):c.858T>C (p.Ala286=) rs2125167964
NM_001927.4(DES):c.869C>A (p.Ser290Tyr) rs981782522
NM_001927.4(DES):c.869C>G (p.Ser290Cys)
NM_001927.4(DES):c.86C>G (p.Pro29Arg)
NM_001927.4(DES):c.86C>T (p.Pro29Leu) rs1378987625
NM_001927.4(DES):c.871G>A (p.Glu291Lys)
NM_001927.4(DES):c.876T>C (p.Ala292=)
NM_001927.4(DES):c.87G>T (p.Pro29=) rs2125165803
NM_001927.4(DES):c.886T>C (p.Tyr296His) rs2125167990
NM_001927.4(DES):c.88C>T (p.Leu30=)
NM_001927.4(DES):c.891G>A (p.Lys297=)
NM_001927.4(DES):c.897+10C>T rs2125168018
NM_001927.4(DES):c.897+11del
NM_001927.4(DES):c.897+13G>T
NM_001927.4(DES):c.897+13_897+14delinsCT
NM_001927.4(DES):c.897+15C>T
NM_001927.4(DES):c.897+16C>A
NM_001927.4(DES):c.897+17G>T
NM_001927.4(DES):c.897+19_897+20del
NM_001927.4(DES):c.897+20G>A
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.897+6T>G rs1954422546
NM_001927.4(DES):c.897+8G>T rs1057520465
NM_001927.4(DES):c.897G>A (p.Lys299=)
NM_001927.4(DES):c.898-13T>C
NM_001927.4(DES):c.898-16C>T rs1490911520
NM_001927.4(DES):c.898-17C>T
NM_001927.4(DES):c.898-18C>T rs1954425409
NM_001927.4(DES):c.898-19C>A
NM_001927.4(DES):c.898-19C>T
NM_001927.4(DES):c.898-20G>T
NM_001927.4(DES):c.898-6C>T rs2125168127
NM_001927.4(DES):c.898-7C>A
NM_001927.4(DES):c.898G>A (p.Val300Met) rs2125168133
NM_001927.4(DES):c.89_109del (p.Leu30_Pro36del)
NM_001927.4(DES):c.8A>G (p.Gln3Arg) rs1954358286
NM_001927.4(DES):c.904G>C (p.Asp302His)
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.912C>A (p.Thr304=) rs778826152
NM_001927.4(DES):c.919G>T (p.Ala307Ser)
NM_001927.4(DES):c.921CAA[1] (p.Asn308del)
NM_001927.4(DES):c.924C>A (p.Asn308Lys)
NM_001927.4(DES):c.931A>G (p.Asn311Asp)
NM_001927.4(DES):c.932A>G (p.Asn311Ser)
NM_001927.4(DES):c.936C>A (p.Asp312Glu)
NM_001927.4(DES):c.939C>T (p.Ala313=) rs1060504848
NM_001927.4(DES):c.93T>G (p.Ser31Arg) rs2017800
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.944G>T (p.Arg315Leu)
NM_001927.4(DES):c.944dup (p.Gln316fs)
NM_001927.4(DES):c.949G>C (p.Ala317Pro)
NM_001927.4(DES):c.953A>G (p.Lys318Arg)
NM_001927.4(DES):c.961A>G (p.Met321Val) rs1954427673
NM_001927.4(DES):c.962T>A (p.Met321Lys)
NM_001927.4(DES):c.962T>C (p.Met321Thr) rs760197212
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001927.4(DES):c.975A>G (p.Arg325=) rs1575014604
NM_001927.4(DES):c.976C>T (p.His326Tyr) rs794728987
NM_001927.4(DES):c.977A>G (p.His326Arg) rs2125168243
NM_001927.4(DES):c.978C>T (p.His326=)
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001927.4(DES):c.986A>C (p.Gln329Pro) rs1060503168
NM_001927.4(DES):c.986A>G (p.Gln329Arg)
NM_001927.4(DES):c.987G>A (p.Gln329=)
NM_001927.4(DES):c.991T>A (p.Tyr331Asn) rs1064795298
NM_001927.4(DES):c.992A>C (p.Tyr331Ser) rs1954428602
NM_001927.4(DES):c.995C>A (p.Thr332Asn)
NM_001927.4(DES):c.995C>T (p.Thr332Ile) rs368453327
NM_001927.4(DES):c.997T>C (p.Cys333Arg)
NM_001927.4(DES):c.998G>T (p.Cys333Phe)
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667
NM_001927.4(DES):c.9G>A (p.Gln3=)

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