ClinVar Miner

List of variants reported as uncertain significance for Senior-Loken syndrome by Invitae

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1236
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HGVS dbSNP gnomAD frequency
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe) rs150314805 0.00084
NM_014956.5(CEP164):c.548T>A (p.Met183Lys) rs144206271 0.00067
NM_025132.4(WDR19):c.490G>A (p.Val164Ile) rs199514431 0.00051
NM_006642.5(SDCCAG8):c.778C>G (p.Leu260Val) rs201869920 0.00046
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val) rs142044303 0.00045
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val) rs199637319 0.00043
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu) rs138384561 0.00042
NM_006642.5(SDCCAG8):c.237T>A (p.Asp79Glu) rs146474568 0.00038
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr) rs150956860 0.00032
NM_025132.4(WDR19):c.929A>G (p.Tyr310Cys) rs199783864 0.00030
NM_006642.5(SDCCAG8):c.1276A>G (p.Thr426Ala) rs201580075 0.00029
NM_006642.5(SDCCAG8):c.964G>A (p.Val322Ile) rs6672843 0.00029
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys) rs146053426 0.00028
NM_025132.4(WDR19):c.3823C>G (p.Pro1275Ala) rs200670161 0.00027
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp) rs139225491 0.00025
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser) rs201430651 0.00025
NM_006642.5(SDCCAG8):c.1068+3A>G rs201388041 0.00024
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp) rs112958115 0.00024
NM_006642.5(SDCCAG8):c.1525C>G (p.Gln509Glu) rs199919586 0.00023
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg) rs375085754 0.00023
NM_014956.5(CEP164):c.2669G>A (p.Arg890His) rs368178224 0.00023
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala) rs147746626 0.00022
NM_014956.5(CEP164):c.1152A>G (p.Gln384=) rs368171178 0.00021
NM_006642.5(SDCCAG8):c.947T>C (p.Met316Thr) rs200461035 0.00019
NM_025132.4(WDR19):c.3016A>G (p.Thr1006Ala) rs199678654 0.00019
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00018
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu) rs143370558 0.00018
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg) rs77118839 0.00018
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu) rs559070007 0.00017
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys) rs753614257 0.00017
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn) rs200520898 0.00017
NM_025132.4(WDR19):c.2720C>T (p.Ala907Val) rs201967816 0.00017
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile) rs147414766 0.00016
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly) rs144767290 0.00014
NM_006642.5(SDCCAG8):c.1429G>C (p.Glu477Gln) rs556191085 0.00013
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys) rs763864742 0.00013
NM_025132.4(WDR19):c.2329A>G (p.Ile777Val) rs373737104 0.00013
NM_025132.4(WDR19):c.3483+5G>A rs201216969 0.00013
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln) rs183392900 0.00012
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro) rs1317065002 0.00012
NM_006642.5(SDCCAG8):c.1750G>A (p.Glu584Lys) rs150961792 0.00011
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln) rs137987733 0.00011
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu) rs146456836 0.00011
NM_025132.4(WDR19):c.1796C>T (p.Ala599Val) rs193273000 0.00011
NM_025132.4(WDR19):c.3029A>G (p.Tyr1010Cys) rs548534755 0.00011
NM_025132.4(WDR19):c.3683C>G (p.Ala1228Gly) rs201051877 0.00011
NM_025132.4(WDR19):c.689A>C (p.Asp230Ala) rs202232525 0.00011
NM_006642.5(SDCCAG8):c.1552A>G (p.Arg518Gly) rs770306576 0.00010
NM_014956.5(CEP164):c.1934+3C>T rs369584565 0.00010
NM_025132.4(WDR19):c.1064A>T (p.Asp355Val) rs192495145 0.00010
NM_006642.5(SDCCAG8):c.160A>T (p.Thr54Ser) rs761616528 0.00009
NM_006642.5(SDCCAG8):c.220+3G>A rs370361491 0.00009
NM_006642.5(SDCCAG8):c.244C>T (p.Arg82Cys) rs143447584 0.00009
NM_006642.5(SDCCAG8):c.784G>C (p.Glu262Gln) rs149038104 0.00009
NM_006642.5(SDCCAG8):c.832C>T (p.Arg278Cys) rs769004589 0.00009
NM_006642.5(SDCCAG8):c.944T>C (p.Leu315Ser) rs200294385 0.00009
NM_014956.5(CEP164):c.2704G>A (p.Val902Met) rs144279354 0.00009
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del) rs749738679 0.00009
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp) rs139444171 0.00009
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu) rs531161184 0.00009
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val) rs143919649 0.00009
NM_025132.4(WDR19):c.3967G>A (p.Ala1323Thr) rs563367049 0.00009
NM_006642.5(SDCCAG8):c.1123C>A (p.Leu375Ile) rs745634199 0.00008
NM_006642.5(SDCCAG8):c.430T>G (p.Ser144Ala) rs749010399 0.00008
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly) rs151204404 0.00008
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg) rs138536460 0.00008
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln) rs184333345 0.00008
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe) rs375118998 0.00008
NM_025132.4(WDR19):c.1127T>C (p.Val376Ala) rs773816730 0.00008
NM_025132.4(WDR19):c.2159A>G (p.Asn720Ser) rs772687020 0.00008
NM_025132.4(WDR19):c.3436G>A (p.Glu1146Lys) rs779635441 0.00008
NM_006642.5(SDCCAG8):c.1115C>T (p.Ala372Val) rs74701277 0.00007
NM_006642.5(SDCCAG8):c.1513C>G (p.Gln505Glu) rs980791573 0.00007
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His) rs140470210 0.00007
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp) rs369446103 0.00007
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr) rs143693029 0.00007
NM_025132.4(WDR19):c.1391G>A (p.Arg464His) rs369201153 0.00007
NM_025132.4(WDR19):c.479A>G (p.Lys160Arg) rs756321262 0.00007
NM_006642.5(SDCCAG8):c.1018G>T (p.Val340Leu) rs1308863502 0.00006
NM_006642.5(SDCCAG8):c.1022A>C (p.Lys341Thr) rs145984257 0.00006
NM_006642.5(SDCCAG8):c.1279A>C (p.Lys427Gln) rs375037219 0.00006
NM_006642.5(SDCCAG8):c.1790C>A (p.Thr597Lys) rs372641187 0.00006
NM_006642.5(SDCCAG8):c.233A>G (p.Lys78Arg) rs750977682 0.00006
NM_006642.5(SDCCAG8):c.245G>A (p.Arg82His) rs577345357 0.00006
NM_006642.5(SDCCAG8):c.283A>G (p.Arg95Gly) rs377564587 0.00006
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr) rs779345917 0.00006
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr) rs747800943 0.00006
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile) rs369322915 0.00006
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu) rs757822725 0.00006
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val) rs751866377 0.00006
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu) rs377394847 0.00006
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu) rs148116542 0.00006
NM_025132.4(WDR19):c.1118C>G (p.Ala373Gly) rs371744495 0.00006
NM_025132.4(WDR19):c.1172A>G (p.Asn391Ser) rs758716599 0.00006
NM_025132.4(WDR19):c.1639G>A (p.Ala547Thr) rs754631759 0.00006
NM_025132.4(WDR19):c.2292A>T (p.Gln764His) rs1340705825 0.00006
NM_025132.4(WDR19):c.2455C>A (p.Gln819Lys) rs779337768 0.00006
NM_025132.4(WDR19):c.3160G>A (p.Ala1054Thr) rs756862143 0.00006
NM_025132.4(WDR19):c.3362A>G (p.Asn1121Ser) rs545916111 0.00006
NM_025132.4(WDR19):c.3383T>C (p.Val1128Ala) rs372799054 0.00006
NM_025132.4(WDR19):c.4004A>G (p.Tyr1335Cys) rs746465783 0.00006
NM_025132.4(WDR19):c.785G>A (p.Gly262Glu) rs778096567 0.00006
NM_025132.4(WDR19):c.842T>C (p.Ile281Thr) rs369657594 0.00006
NM_006642.5(SDCCAG8):c.280T>A (p.Ser94Thr) rs776810375 0.00005
NM_006642.5(SDCCAG8):c.968G>A (p.Arg323Lys) rs576672580 0.00005
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg) rs778958469 0.00005
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp) rs145755063 0.00005
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile) rs150451678 0.00005
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala) rs200571532 0.00005
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr) rs148477756 0.00005
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp) rs557730163 0.00005
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr) rs370793843 0.00005
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala) rs913817059 0.00005
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg) rs370039438 0.00005
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys) rs148650653 0.00005
NM_014956.5(CEP164):c.710C>A (p.Pro237His) rs567606919 0.00005
NM_025132.4(WDR19):c.1734T>A (p.Asp578Glu) rs571678102 0.00005
NM_025132.4(WDR19):c.2450T>A (p.Val817Glu) rs749621367 0.00005
NM_025132.4(WDR19):c.3140C>T (p.Pro1047Leu) rs1244203665 0.00005
NM_025132.4(WDR19):c.3280C>T (p.Arg1094Cys) rs757564170 0.00005
NM_025132.4(WDR19):c.3521G>A (p.Arg1174His) rs372719724 0.00005
NM_025132.4(WDR19):c.592G>A (p.Ala198Thr) rs575149055 0.00005
NM_006642.5(SDCCAG8):c.1492A>G (p.Ile498Val) rs765529431 0.00004
NM_006642.5(SDCCAG8):c.1588G>A (p.Glu530Lys) rs190020173 0.00004
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys) rs763039493 0.00004
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile) rs752334538 0.00004
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr) rs142108558 0.00004
NM_014956.5(CEP164):c.1860A>T (p.Gln620His) rs745707423 0.00004
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala) rs138449146 0.00004
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln) rs781063589 0.00004
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys) rs375310104 0.00004
NM_014956.5(CEP164):c.2066+4A>G rs577854690 0.00004
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp) rs541217768 0.00004
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr) rs773981726 0.00004
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=) rs766038184 0.00004
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys) rs374437787 0.00004
NM_014956.5(CEP164):c.499G>A (p.Val167Met) rs748619597 0.00004
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys) rs774763557 0.00004
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys) rs776372232 0.00004
NM_025132.4(WDR19):c.1390C>T (p.Arg464Cys) rs201148758 0.00004
NM_025132.4(WDR19):c.1748C>T (p.Thr583Ile) rs1286484497 0.00004
NM_025132.4(WDR19):c.1942G>A (p.Glu648Lys) rs377367588 0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr) rs768082694 0.00004
NM_025132.4(WDR19):c.2786G>A (p.Arg929His) rs201685269 0.00004
NM_025132.4(WDR19):c.3184-3C>T rs750130004 0.00004
NM_025132.4(WDR19):c.3247G>A (p.Asp1083Asn) rs376167184 0.00004
NM_025132.4(WDR19):c.3281G>A (p.Arg1094His) rs781620821 0.00004
NM_025132.4(WDR19):c.3474A>G (p.Ile1158Met) rs760312911 0.00004
NM_025132.4(WDR19):c.3502G>A (p.Asp1168Asn) rs750250561 0.00004
NM_025132.4(WDR19):c.3532C>T (p.Arg1178Trp) rs754690461 0.00004
NM_025132.4(WDR19):c.427A>T (p.Thr143Ser) rs1300821144 0.00004
NM_025132.4(WDR19):c.817A>G (p.Asn273Asp) rs375644378 0.00004
NM_006642.5(SDCCAG8):c.1373G>A (p.Arg458His) rs748784645 0.00003
NM_006642.5(SDCCAG8):c.1892C>T (p.Thr631Ile) rs565662622 0.00003
NM_006642.5(SDCCAG8):c.1945T>C (p.Cys649Arg) rs371805116 0.00003
NM_006642.5(SDCCAG8):c.518T>C (p.Leu173Pro) rs541533278 0.00003
NM_006642.5(SDCCAG8):c.66G>T (p.Arg22=) rs764668676 0.00003
NM_006642.5(SDCCAG8):c.842G>A (p.Gly281Asp) rs765751496 0.00003
NM_006642.5(SDCCAG8):c.866A>G (p.His289Arg) rs147807589 0.00003
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp) rs775902514 0.00003
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met) rs202080477 0.00003
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys) rs766713516 0.00003
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu) rs761621131 0.00003
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp) rs377437628 0.00003
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln) rs756048473 0.00003
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg) rs377597884 0.00003
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp) rs1055666351 0.00003
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His) rs372292887 0.00003
NM_014956.5(CEP164):c.3278+5_3278+8del rs929035130 0.00003
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr) rs527615343 0.00003
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu) rs75301270 0.00003
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala) rs757246851 0.00003
NM_014956.5(CEP164):c.625C>G (p.Leu209Val) rs921440647 0.00003
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly) rs777527578 0.00003
NM_014956.5(CEP164):c.765+3A>T rs1256710112 0.00003
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser) rs767609128 0.00003
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg) rs376214075 0.00003
NM_025132.4(WDR19):c.1016A>G (p.Gln339Arg) rs773773910 0.00003
NM_025132.4(WDR19):c.1114G>A (p.Val372Ile) rs184326673 0.00003
NM_025132.4(WDR19):c.1168C>A (p.Pro390Thr) rs752803760 0.00003
NM_025132.4(WDR19):c.1182A>G (p.Ala394=) rs769687203 0.00003
NM_025132.4(WDR19):c.1430G>A (p.Arg477His) rs371117988 0.00003
NM_025132.4(WDR19):c.2087G>A (p.Arg696His) rs747881116 0.00003
NM_025132.4(WDR19):c.2320A>G (p.Ile774Val) rs762043395 0.00003
NM_025132.4(WDR19):c.2363C>T (p.Ala788Val) rs867487924 0.00003
NM_025132.4(WDR19):c.2492T>C (p.Val831Ala) rs934792994 0.00003
NM_025132.4(WDR19):c.2632C>T (p.Arg878Cys) rs770091572 0.00003
NM_025132.4(WDR19):c.2872G>A (p.Ala958Thr) rs1057523257 0.00003
NM_025132.4(WDR19):c.288G>A (p.Met96Ile) rs374891297 0.00003
NM_025132.4(WDR19):c.2972A>G (p.Asn991Ser) rs763190830 0.00003
NM_025132.4(WDR19):c.3434C>T (p.Ser1145Phe) rs199625785 0.00003
NM_025132.4(WDR19):c.3633C>G (p.Phe1211Leu) rs757721845 0.00003
NM_025132.4(WDR19):c.3640G>A (p.Ala1214Thr) rs1206705962 0.00003
NM_025132.4(WDR19):c.3668G>A (p.Arg1223His) rs115335610 0.00003
NM_025132.4(WDR19):c.3749C>T (p.Thr1250Met) rs529745222 0.00003
NM_025132.4(WDR19):c.523-3T>C rs747603843 0.00003
NM_006642.5(SDCCAG8):c.1064C>A (p.Thr355Asn) rs199524638 0.00002
NM_006642.5(SDCCAG8):c.1352C>T (p.Thr451Ile) rs762653933 0.00002
NM_006642.5(SDCCAG8):c.14C>T (p.Pro5Leu) rs747363592 0.00002
NM_006642.5(SDCCAG8):c.1643G>C (p.Ser548Thr) rs775898129 0.00002
NM_006642.5(SDCCAG8):c.1963G>A (p.Val655Ile) rs776040834 0.00002
NM_006642.5(SDCCAG8):c.661G>A (p.Glu221Lys) rs373999051 0.00002
NM_006642.5(SDCCAG8):c.718G>A (p.Glu240Lys) rs774139674 0.00002
NM_006642.5(SDCCAG8):c.918A>C (p.Glu306Asp) rs770183847 0.00002
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg) rs2042173742 0.00002
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro) rs557486197 0.00002
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val) rs1213789533 0.00002
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser) rs1481684034 0.00002
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu) rs773140295 0.00002
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu) rs1470761164 0.00002
NM_014956.5(CEP164):c.2362-14G>A rs1035815151 0.00002
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala) rs750842640 0.00002
NM_014956.5(CEP164):c.2494-3C>T rs763312597 0.00002
NM_014956.5(CEP164):c.2726G>A (p.Arg909His) rs530932318 0.00002
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val) rs778872289 0.00002
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val) rs1264586687 0.00002
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val) rs770370539 0.00002
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr) rs375136293 0.00002
NM_014956.5(CEP164):c.3501+4A>G rs1180692184 0.00002
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu) rs746686807 0.00002
NM_014956.5(CEP164):c.3609+3G>A rs148009946 0.00002
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met) rs774641136 0.00002
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg) rs781132728 0.00002
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly) rs748810265 0.00002
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys) rs149806421 0.00002
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg) rs1281252703 0.00002
NM_025132.4(WDR19):c.106T>G (p.Tyr36Asp) rs781578023 0.00002
NM_025132.4(WDR19):c.128G>A (p.Arg43His) rs770312522 0.00002
NM_025132.4(WDR19):c.1294A>G (p.Ser432Gly) rs778750936 0.00002
NM_025132.4(WDR19):c.1486G>A (p.Val496Ile) rs1482640692 0.00002
NM_025132.4(WDR19):c.1904A>G (p.His635Arg) rs763696990 0.00002
NM_025132.4(WDR19):c.1931C>T (p.Thr644Met) rs770339514 0.00002
NM_025132.4(WDR19):c.1982+6C>T rs745860100 0.00002
NM_025132.4(WDR19):c.200A>G (p.Asp67Gly) rs778896318 0.00002
NM_025132.4(WDR19):c.2347A>G (p.Ile783Val) rs1055716143 0.00002
NM_025132.4(WDR19):c.2668C>T (p.Pro890Ser) rs1318406101 0.00002
NM_025132.4(WDR19):c.2674G>A (p.Val892Ile) rs551049157 0.00002
NM_025132.4(WDR19):c.2785C>T (p.Arg929Cys) rs1470166429 0.00002
NM_025132.4(WDR19):c.2945A>G (p.Glu982Gly) rs923164828 0.00002
NM_025132.4(WDR19):c.2954C>A (p.Thr985Lys) rs769807270 0.00002
NM_025132.4(WDR19):c.3113G>A (p.Arg1038Gln) rs1322637464 0.00002
NM_025132.4(WDR19):c.326G>A (p.Gly109Glu) rs766029437 0.00002
NM_025132.4(WDR19):c.343G>A (p.Gly115Arg) rs376471437 0.00002
NM_025132.4(WDR19):c.3485T>A (p.Ile1162Asn) rs1429836760 0.00002
NM_025132.4(WDR19):c.3500G>T (p.Gly1167Val) rs767154492 0.00002
NM_025132.4(WDR19):c.3553A>C (p.Lys1185Gln) rs998142201 0.00002
NM_025132.4(WDR19):c.3565+4A>C rs771431758 0.00002
NM_025132.4(WDR19):c.3702C>G (p.Ile1234Met) rs1306554397 0.00002
NM_025132.4(WDR19):c.512C>T (p.Thr171Met) rs777646123 0.00002
NM_025132.4(WDR19):c.738G>A (p.Met246Ile) rs756937727 0.00002
NM_006642.5(SDCCAG8):c.1010A>G (p.Tyr337Cys) rs771991355 0.00001
NM_006642.5(SDCCAG8):c.1069-8C>T rs752672598 0.00001
NM_006642.5(SDCCAG8):c.1099G>A (p.Glu367Lys) rs780671703 0.00001
NM_006642.5(SDCCAG8):c.1121G>A (p.Arg374Gln) rs553797432 0.00001
NM_006642.5(SDCCAG8):c.115G>A (p.Gly39Ser) rs756642876 0.00001
NM_006642.5(SDCCAG8):c.1163T>A (p.Ile388Asn) rs377237088 0.00001
NM_006642.5(SDCCAG8):c.1175T>C (p.Met392Thr) rs1041307493 0.00001
NM_006642.5(SDCCAG8):c.1210A>G (p.Met404Val) rs1298150302 0.00001
NM_006642.5(SDCCAG8):c.1222A>G (p.Met408Val) rs752002252 0.00001
NM_006642.5(SDCCAG8):c.1247C>T (p.Ala416Val) rs1345199314 0.00001
NM_006642.5(SDCCAG8):c.1272G>C (p.Lys424Asn) rs777728424 0.00001
NM_006642.5(SDCCAG8):c.1274T>C (p.Val425Ala) rs779777531 0.00001
NM_006642.5(SDCCAG8):c.1287G>T (p.Lys429Asn) rs781182231 0.00001
NM_006642.5(SDCCAG8):c.1297A>G (p.Ile433Val) rs769796315 0.00001
NM_006642.5(SDCCAG8):c.1336C>T (p.Arg446Trp) rs769286565 0.00001
NM_006642.5(SDCCAG8):c.1337G>A (p.Arg446Gln) rs772853104 0.00001
NM_006642.5(SDCCAG8):c.1343T>C (p.Met448Thr) rs1015302300 0.00001
NM_006642.5(SDCCAG8):c.1375T>C (p.Tyr459His) rs1182496392 0.00001
NM_006642.5(SDCCAG8):c.1423C>T (p.His475Tyr) rs190941099 0.00001
NM_006642.5(SDCCAG8):c.1427G>A (p.Arg476Lys) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1427G>C (p.Arg476Thr) rs761873846 0.00001
NM_006642.5(SDCCAG8):c.1454A>G (p.Asp485Gly) rs1273880712 0.00001
NM_006642.5(SDCCAG8):c.1465A>G (p.Lys489Glu) rs1573445816 0.00001
NM_006642.5(SDCCAG8):c.1488G>T (p.Leu496Phe) rs1432354431 0.00001
NM_006642.5(SDCCAG8):c.1642A>C (p.Ser548Arg) rs1388276184 0.00001
NM_006642.5(SDCCAG8):c.1730A>C (p.Gln577Pro) rs771493123 0.00001
NM_006642.5(SDCCAG8):c.1768A>G (p.Thr590Ala) rs780281311 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006642.5(SDCCAG8):c.1823A>G (p.Lys608Arg) rs760154232 0.00001
NM_006642.5(SDCCAG8):c.1888T>C (p.Tyr630His) rs138187640 0.00001
NM_006642.5(SDCCAG8):c.1913T>C (p.Leu638Ser) rs752896885 0.00001
NM_006642.5(SDCCAG8):c.1955A>G (p.His652Arg) rs746505992 0.00001
NM_006642.5(SDCCAG8):c.1964T>A (p.Val655Glu) rs1415587153 0.00001
NM_006642.5(SDCCAG8):c.1986-3C>T rs757455834 0.00001
NM_006642.5(SDCCAG8):c.2026C>G (p.Gln676Glu) rs1242245359 0.00001
NM_006642.5(SDCCAG8):c.2122A>G (p.Met708Val) rs778488043 0.00001
NM_006642.5(SDCCAG8):c.307-3T>C rs901028030 0.00001
NM_006642.5(SDCCAG8):c.349G>A (p.Asp117Asn) rs913322544 0.00001
NM_006642.5(SDCCAG8):c.359A>G (p.His120Arg) rs778785206 0.00001
NM_006642.5(SDCCAG8):c.364A>G (p.Ile122Val) rs377473337 0.00001
NM_006642.5(SDCCAG8):c.365T>C (p.Ile122Thr) rs758051187 0.00001
NM_006642.5(SDCCAG8):c.37A>T (p.Ile13Phe) rs763172123 0.00001
NM_006642.5(SDCCAG8):c.404A>T (p.Glu135Val) rs747774826 0.00001
NM_006642.5(SDCCAG8):c.546C>T (p.Ser182=) rs564399164 0.00001
NM_006642.5(SDCCAG8):c.560A>G (p.Asn187Ser) rs185077992 0.00001
NM_006642.5(SDCCAG8):c.574A>G (p.Thr192Ala) rs1003029505 0.00001
NM_006642.5(SDCCAG8):c.646G>A (p.Ala216Thr) rs753823148 0.00001
NM_006642.5(SDCCAG8):c.67+17C>G rs1311985140 0.00001
NM_006642.5(SDCCAG8):c.695A>C (p.Tyr232Ser) rs747968552 0.00001
NM_006642.5(SDCCAG8):c.707G>A (p.Cys236Tyr) rs1299404653 0.00001
NM_006642.5(SDCCAG8):c.749T>C (p.Leu250Ser) rs1357310997 0.00001
NM_006642.5(SDCCAG8):c.929+6T>C rs949556945 0.00001
NM_006642.5(SDCCAG8):c.950C>T (p.Ser317Phe) rs368258515 0.00001
NM_014956.5(CEP164):c.112A>G (p.Ile38Val) rs978689124 0.00001
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr) rs780364658 0.00001
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp) rs1347609515 0.00001
NM_014956.5(CEP164):c.1226A>G (p.His409Arg) rs747489061 0.00001
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp) rs575328059 0.00001
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu) rs1324951273 0.00001
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr) rs749869599 0.00001
NM_014956.5(CEP164):c.1409+6A>G rs762497915 0.00001
NM_014956.5(CEP164):c.1410-11G>A rs537713728 0.00001
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln) rs573209223 0.00001
NM_014956.5(CEP164):c.1457G>A (p.Arg486His) rs545471229 0.00001
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr) rs765811586 0.00001
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala) rs541149150 0.00001
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser) rs758286092 0.00001
NM_014956.5(CEP164):c.1628A>G (p.His543Arg) rs780941204 0.00001
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr) rs943322658 0.00001
NM_014956.5(CEP164):c.1725-3T>C rs940650344 0.00001
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln) rs757579833 0.00001
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe) rs923498039 0.00001
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln) rs143553347 0.00001
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys) rs187622644 0.00001
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp) rs1222181370 0.00001
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp) rs760666687 0.00001
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln) rs763183525 0.00001
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe) rs1445485693 0.00001
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp) rs201175046 0.00001
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe) rs749213655 0.00001
NM_014956.5(CEP164):c.20G>A (p.Arg7His) rs1413886061 0.00001
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu) rs780538516 0.00001
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly) rs746693932 0.00001
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met) rs140009020 0.00001
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val) rs555087707 0.00001
NM_014956.5(CEP164):c.2473G>A (p.Val825Met) rs373870559 0.00001
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys) rs977065085 0.00001
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His) rs774896440 0.00001
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp) rs986338516 0.00001
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn) rs753347841 0.00001
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys) rs772514202 0.00001
NM_014956.5(CEP164):c.2776G>C (p.Asp926His) rs751259435 0.00001
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp) rs143446218 0.00001
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu) rs1217613639 0.00001
NM_014956.5(CEP164):c.2884G>A (p.Val962Met) rs750570669 0.00001
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg) rs1416554475 0.00001
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr) rs1316999665 0.00001
NM_014956.5(CEP164):c.3089+6G>A rs374896228 0.00001
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln) rs752093126 0.00001
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln) rs748972612 0.00001
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe) rs142722515 0.00001
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe) rs201488532 0.00001
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn) rs562234273 0.00001
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn) rs760736423 0.00001
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe) rs1307328675 0.00001
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn) rs1182752473 0.00001
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln) rs753895198 0.00001
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn) rs1341181625 0.00001
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile) rs757309937 0.00001
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His) rs758759503 0.00001
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro) rs747917840 0.00001
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala) rs535589696 0.00001
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu) rs1431305580 0.00001
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr) rs1190524819 0.00001
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly) rs765899402 0.00001
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn) rs950631722 0.00001
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln) rs1179932970 0.00001
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln) rs147208889 0.00001
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His) rs963921685 0.00001
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys) rs780550729 0.00001
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp) rs142578192 0.00001
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr) rs919243922 0.00001
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu) rs1006672566 0.00001
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys) rs1171979946 0.00001
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr) rs769207410 0.00001
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro) rs774024619 0.00001
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys) rs753906680 0.00001
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg) rs1338246093 0.00001
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala) rs1360828180 0.00001
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr) rs180911439 0.00001
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp) rs769676851 0.00001
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln) rs772989312 0.00001
NM_014956.5(CEP164):c.418G>A (p.Val140Ile) rs778310001 0.00001
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val) rs191488031 0.00001
NM_014956.5(CEP164):c.422A>G (p.His141Arg) rs200045306 0.00001
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln) rs564746056 0.00001
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu) rs139763142 0.00001
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly) rs140963454 0.00001
NM_014956.5(CEP164):c.530G>A (p.Arg177His) rs199701600 0.00001
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg) rs199924960 0.00001
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn) rs755237805 0.00001
NM_014956.5(CEP164):c.760T>C (p.Tyr254His) rs750854769 0.00001
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys) rs764958657 0.00001
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln) rs769627423 0.00001
NM_025132.4(WDR19):c.1066G>A (p.Ala356Thr) rs565630355 0.00001
NM_025132.4(WDR19):c.1093A>G (p.Thr365Ala) rs745627337 0.00001
NM_025132.4(WDR19):c.1121A>G (p.Asn374Ser) rs1729030821 0.00001
NM_025132.4(WDR19):c.1232A>G (p.Tyr411Cys) rs761268969 0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=) rs772867899 0.00001
NM_025132.4(WDR19):c.1466T>C (p.Ile489Thr) rs1729266547 0.00001
NM_025132.4(WDR19):c.1477G>C (p.Asp493His) rs587777349 0.00001
NM_025132.4(WDR19):c.1487T>C (p.Val496Ala) rs772209665 0.00001
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser) rs1237494778 0.00001
NM_025132.4(WDR19):c.1522G>A (p.Val508Ile) rs764106666 0.00001
NM_025132.4(WDR19):c.1535G>A (p.Arg512Gln) rs537283735 0.00001
NM_025132.4(WDR19):c.1567G>A (p.Asp523Asn) rs557405566 0.00001
NM_025132.4(WDR19):c.1679G>A (p.Gly560Asp) rs375777724 0.00001
NM_025132.4(WDR19):c.1716A>G (p.Val572=) rs1730484886 0.00001
NM_025132.4(WDR19):c.1749T>G (p.Thr583=) rs767572787 0.00001
NM_025132.4(WDR19):c.1810G>C (p.Val604Leu) rs1245108212 0.00001
NM_025132.4(WDR19):c.1841A>G (p.Tyr614Cys) rs780273002 0.00001
NM_025132.4(WDR19):c.1927G>T (p.Asp643Tyr) rs767757561 0.00001
NM_025132.4(WDR19):c.1956G>C (p.Met652Ile) rs746795141 0.00001
NM_025132.4(WDR19):c.1993G>C (p.Ala665Pro) rs753976268 0.00001
NM_025132.4(WDR19):c.2066T>C (p.Met689Thr) rs780879248 0.00001
NM_025132.4(WDR19):c.2093A>C (p.Tyr698Ser) rs370948119 0.00001
NM_025132.4(WDR19):c.2095C>T (p.Arg699Trp) rs886042728 0.00001
NM_025132.4(WDR19):c.2189C>T (p.Thr730Ile) rs1157984983 0.00001
NM_025132.4(WDR19):c.2192A>G (p.Asn731Ser) rs777105752 0.00001
NM_025132.4(WDR19):c.2194G>A (p.Asp732Asn) rs765614115 0.00001
NM_025132.4(WDR19):c.2253G>T (p.Glu751Asp) rs1170632040 0.00001
NM_025132.4(WDR19):c.2272C>A (p.His758Asn) rs577133819 0.00001
NM_025132.4(WDR19):c.2332T>A (p.Ser778Thr) rs545547031 0.00001
NM_025132.4(WDR19):c.2521G>A (p.Val841Ile) rs1349223638 0.00001
NM_025132.4(WDR19):c.2562+4C>G rs1732285598 0.00001
NM_025132.4(WDR19):c.2618C>T (p.Ala873Val) rs746141233 0.00001
NM_025132.4(WDR19):c.2669C>G (p.Pro890Arg) rs1231847370 0.00001
NM_025132.4(WDR19):c.269G>A (p.Ser90Asn) rs761275061 0.00001
NM_025132.4(WDR19):c.2710G>A (p.Ala904Thr) rs1407602801 0.00001
NM_025132.4(WDR19):c.2779G>A (p.Val927Ile) rs757105603 0.00001
NM_025132.4(WDR19):c.277G>C (p.Asp93His) rs1725959489 0.00001
NM_025132.4(WDR19):c.2894G>T (p.Gly965Val) rs778314721 0.00001
NM_025132.4(WDR19):c.2908G>A (p.Ala970Thr) rs1733506402 0.00001
NM_025132.4(WDR19):c.2933A>G (p.Lys978Arg) rs1733508675 0.00001
NM_025132.4(WDR19):c.2948C>T (p.Ala983Val) rs1293022423 0.00001
NM_025132.4(WDR19):c.2T>C (p.Met1Thr) rs1021076498 0.00001
NM_025132.4(WDR19):c.3001+3A>G rs986476372 0.00001
NM_025132.4(WDR19):c.3001+6T>C rs912115085 0.00001
NM_025132.4(WDR19):c.3013A>T (p.Thr1005Ser) rs757632232 0.00001
NM_025132.4(WDR19):c.3049T>G (p.Phe1017Val) rs778689889 0.00001
NM_025132.4(WDR19):c.3068A>C (p.Tyr1023Ser) rs759424617 0.00001
NM_025132.4(WDR19):c.3114+3T>C rs1275093466 0.00001
NM_025132.4(WDR19):c.3146C>T (p.Ser1049Leu) rs763748984 0.00001
NM_025132.4(WDR19):c.3188G>A (p.Gly1063Asp) rs760222006 0.00001
NM_025132.4(WDR19):c.3188G>T (p.Gly1063Val) rs760222006 0.00001
NM_025132.4(WDR19):c.3253A>C (p.Met1085Leu) rs1331013833 0.00001
NM_025132.4(WDR19):c.3358+3A>G rs1263454874 0.00001
NM_025132.4(WDR19):c.3367C>T (p.Arg1123Trp) rs369310189 0.00001
NM_025132.4(WDR19):c.3368G>A (p.Arg1123Gln) rs764512369 0.00001
NM_025132.4(WDR19):c.3379G>A (p.Asp1127Asn) rs767727756 0.00001
NM_025132.4(WDR19):c.3397T>C (p.Tyr1133His) rs1187864679 0.00001
NM_025132.4(WDR19):c.3443C>T (p.Ala1148Val) rs1235824066 0.00001
NM_025132.4(WDR19):c.3464A>C (p.His1155Pro) rs774806370 0.00001
NM_025132.4(WDR19):c.3491T>A (p.Val1164Asp) rs748465735 0.00001
NM_025132.4(WDR19):c.3565C>T (p.His1189Tyr) rs778261943 0.00001
NM_025132.4(WDR19):c.3579C>G (p.Ile1193Met) rs368286694 0.00001
NM_025132.4(WDR19):c.3646A>G (p.Met1216Val) rs571331592 0.00001
NM_025132.4(WDR19):c.3808T>A (p.Cys1270Ser) rs1035768119 0.00001
NM_025132.4(WDR19):c.3833T>C (p.Ile1278Thr) rs1250445688 0.00001
NM_025132.4(WDR19):c.3847C>T (p.His1283Tyr) rs1187043579 0.00001
NM_025132.4(WDR19):c.3875G>T (p.Cys1292Phe) rs796543493 0.00001
NM_025132.4(WDR19):c.3964A>C (p.Asn1322His) rs1158060361 0.00001
NM_025132.4(WDR19):c.3966C>A (p.Asn1322Lys) rs767906377 0.00001
NM_025132.4(WDR19):c.3993C>G (p.Asp1331Glu) rs778745769 0.00001
NM_025132.4(WDR19):c.404T>C (p.Leu135Pro) rs1361187656 0.00001
NM_025132.4(WDR19):c.410A>G (p.Lys137Arg) rs763605734 0.00001
NM_025132.4(WDR19):c.43G>A (p.Ala15Thr) rs865806299 0.00001
NM_025132.4(WDR19):c.56T>G (p.Phe19Cys) rs1247231925 0.00001
NM_025132.4(WDR19):c.6+3A>G rs1415721879 0.00001
NM_025132.4(WDR19):c.603+3A>G rs1727609864 0.00001
NM_025132.4(WDR19):c.621C>T (p.Gly207=) rs1330119254 0.00001
NM_025132.4(WDR19):c.664C>G (p.Pro222Ala) rs757241775 0.00001
NM_025132.4(WDR19):c.667G>A (p.Ala223Thr) rs1371153516 0.00001
NM_025132.4(WDR19):c.710A>G (p.Tyr237Cys) rs755629699 0.00001
NM_025132.4(WDR19):c.716+12A>G rs779700299 0.00001
NM_025132.4(WDR19):c.802A>T (p.Ile268Leu) rs372022021 0.00001
NM_025132.4(WDR19):c.8G>A (p.Arg3His) rs922584346 0.00001
NM_025132.4(WDR19):c.906C>G (p.Asp302Glu) rs763697118 0.00001
NM_025132.4(WDR19):c.931G>A (p.Val311Ile) rs1300934052 0.00001
NM_025132.4(WDR19):c.977C>G (p.Ser326Cys) rs1729012449 0.00001
NC_000001.10:g.(?_243303219)_(245027609_?)dup
NC_000001.10:g.(?_243349541)_(243419562_?)dup
NC_000001.10:g.(?_243437825)_(243437978_?)del
NC_000001.10:g.(?_243456373)_(243456541_?)del
NC_000001.10:g.(?_243493822)_(243494014_?)dup
NC_000001.10:g.(?_243504321)_(243507653_?)del
NC_000001.10:g.(?_243507497)_(243507653_?)del
NC_000001.10:g.(?_243578984)_(243589880_?)del
NC_000001.10:g.(?_243589709)_(243589880_?)del
NC_000004.11:g.(?_39184178)_(39259194_?)dup
NC_000004.11:g.(?_39226484)_(39226673_?)del
NC_000004.11:g.(?_39245868)_(39259174_?)del
NC_000011.9:g.(?_117209303)_(117222724_?)dup
NC_000011.9:g.(?_117209303)_(117234242_?)dup
NC_000011.9:g.(?_117232531)_(117233274_?)del
NC_000011.9:g.(?_117233107)_117234066del
NC_000011.9:g.(?_117261473)_(117342771_?)dup
NC_000011.9:g.(?_117278705)_(117284975_?)del
NM_006642.5(SDCCAG8):c.1027G>A (p.Val343Ile) rs760942783
NM_006642.5(SDCCAG8):c.103G>T (p.Ala35Ser)
NM_006642.5(SDCCAG8):c.1053T>C (p.Asn351=)
NM_006642.5(SDCCAG8):c.1062A>C (p.Lys354Asn)
NM_006642.5(SDCCAG8):c.1069-3C>T
NM_006642.5(SDCCAG8):c.1079A>C (p.Gln360Pro)
NM_006642.5(SDCCAG8):c.1109G>T (p.Arg370Met) rs1471866292
NM_006642.5(SDCCAG8):c.1117G>A (p.Glu373Lys)
NM_006642.5(SDCCAG8):c.1151A>G (p.Glu384Gly) rs2074516888
NM_006642.5(SDCCAG8):c.1158G>C (p.Arg386Ser)
NM_006642.5(SDCCAG8):c.1171G>A (p.Asp391Asn) rs2149349477
NM_006642.5(SDCCAG8):c.1176G>A (p.Met392Ile)
NM_006642.5(SDCCAG8):c.1178T>A (p.Met393Lys)
NM_006642.5(SDCCAG8):c.1186G>A (p.Glu396Lys)
NM_006642.5(SDCCAG8):c.118G>A (p.Asp40Asn)
NM_006642.5(SDCCAG8):c.1193C>T (p.Thr398Met)
NM_006642.5(SDCCAG8):c.11C>G (p.Ser4Cys)
NM_006642.5(SDCCAG8):c.1221+4C>G
NM_006642.5(SDCCAG8):c.122T>C (p.Val41Ala) rs2067972241
NM_006642.5(SDCCAG8):c.1234T>A (p.Ser412Thr)
NM_006642.5(SDCCAG8):c.1244T>C (p.Ile415Thr)
NM_006642.5(SDCCAG8):c.124A>G (p.Thr42Ala)
NM_006642.5(SDCCAG8):c.1273G>A (p.Val425Ile) rs370072966
NM_006642.5(SDCCAG8):c.1273G>T (p.Val425Phe) rs370072966
NM_006642.5(SDCCAG8):c.1283A>G (p.Glu428Gly) rs1364309751
NM_006642.5(SDCCAG8):c.1301A>T (p.Asn434Ile)
NM_006642.5(SDCCAG8):c.1306C>G (p.Leu436Val)
NM_006642.5(SDCCAG8):c.1309G>C (p.Glu437Gln)
NM_006642.5(SDCCAG8):c.1343T>G (p.Met448Arg) rs1015302300
NM_006642.5(SDCCAG8):c.1356G>A (p.Lys452=) rs1057515483
NM_006642.5(SDCCAG8):c.1358T>C (p.Val453Ala)
NM_006642.5(SDCCAG8):c.1360T>C (p.Cys454Arg)
NM_006642.5(SDCCAG8):c.136G>C (p.Asp46His) rs2067972892
NM_006642.5(SDCCAG8):c.1370T>A (p.Met457Lys) rs1250974056
NM_006642.5(SDCCAG8):c.1397T>G (p.Met466Arg) rs2147791053
NM_006642.5(SDCCAG8):c.1411G>A (p.Ala471Thr) rs775752533
NM_006642.5(SDCCAG8):c.1420G>A (p.Glu474Lys) rs2075566223
NM_006642.5(SDCCAG8):c.1421A>C (p.Glu474Ala)
NM_006642.5(SDCCAG8):c.1426A>G (p.Arg476Gly) rs2147791136
NM_006642.5(SDCCAG8):c.1439C>A (p.Ala480Glu)
NM_006642.5(SDCCAG8):c.1452G>C (p.Arg484Ser)
NM_006642.5(SDCCAG8):c.1498C>A (p.Leu500Met)
NM_006642.5(SDCCAG8):c.1519T>G (p.Leu507Val) rs1558382581
NM_006642.5(SDCCAG8):c.152C>T (p.Ser51Phe) rs2067973932
NM_006642.5(SDCCAG8):c.1574C>A (p.Thr525Lys) rs999154575
NM_006642.5(SDCCAG8):c.1594G>A (p.Glu532Lys) rs753709808
NM_006642.5(SDCCAG8):c.1610T>G (p.Leu537Arg) rs1032332223
NM_006642.5(SDCCAG8):c.1646T>C (p.Phe549Ser) rs2080530513
NM_006642.5(SDCCAG8):c.1691A>G (p.Glu564Gly)
NM_006642.5(SDCCAG8):c.1696G>A (p.Glu566Lys)
NM_006642.5(SDCCAG8):c.1699C>G (p.Leu567Val)
NM_006642.5(SDCCAG8):c.169G>A (p.Gly57Arg) rs2067975157
NM_006642.5(SDCCAG8):c.16G>C (p.Glu6Gln) rs1201744229
NM_006642.5(SDCCAG8):c.1727C>T (p.Ala576Val) rs766677544
NM_006642.5(SDCCAG8):c.1756T>A (p.Tyr586Asn)
NM_006642.5(SDCCAG8):c.1764G>A (p.Leu588=)
NM_006642.5(SDCCAG8):c.1769C>A (p.Thr590Asn) rs2148018533
NM_006642.5(SDCCAG8):c.181G>A (p.Ala61Thr)
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006642.5(SDCCAG8):c.182C>A (p.Ala61Asp)
NM_006642.5(SDCCAG8):c.1837A>G (p.Ile613Val) rs2148018705
NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)
NM_006642.5(SDCCAG8):c.1886G>T (p.Arg629Met) rs548855151
NM_006642.5(SDCCAG8):c.191C>T (p.Ala64Val)
NM_006642.5(SDCCAG8):c.1931A>G (p.Glu644Gly)
NM_006642.5(SDCCAG8):c.1933T>A (p.Leu645Met)
NM_006642.5(SDCCAG8):c.1944G>C (p.Gln648His) rs2148043381
NM_006642.5(SDCCAG8):c.1966C>A (p.His656Asn) rs1262692904
NM_006642.5(SDCCAG8):c.1967A>G (p.His656Arg)
NM_006642.5(SDCCAG8):c.1984A>G (p.Arg662Gly)
NM_006642.5(SDCCAG8):c.1992_2009dup (p.His669_Ser670insArgGlnLeuAspLysHis) rs2148266803
NM_006642.5(SDCCAG8):c.2021C>T (p.Ala674Val)
NM_006642.5(SDCCAG8):c.2053A>T (p.Asn685Tyr) rs2148267056
NM_006642.5(SDCCAG8):c.2078G>A (p.Ser693Asn)
NM_006642.5(SDCCAG8):c.2091G>T (p.Glu697Asp)
NM_006642.5(SDCCAG8):c.2098C>T (p.Arg700Trp) rs369591883
NM_006642.5(SDCCAG8):c.209A>C (p.Gln70Pro)
NM_006642.5(SDCCAG8):c.2104C>T (p.Arg702Trp)
NM_006642.5(SDCCAG8):c.2105G>A (p.Arg702Gln) rs2148267381
NM_006642.5(SDCCAG8):c.2108C>T (p.Thr703Ile)
NM_006642.5(SDCCAG8):c.2112+2T>C
NM_006642.5(SDCCAG8):c.2113-1G>T
NM_006642.5(SDCCAG8):c.2124G>A (p.Met708Ile) rs1669058410
NM_006642.5(SDCCAG8):c.2139_2141dup (p.Cys713dup) rs1268199421
NM_006642.5(SDCCAG8):c.22T>C (p.Ser8Pro) rs1193390013
NM_006642.5(SDCCAG8):c.244C>A (p.Arg82Ser) rs143447584
NM_006642.5(SDCCAG8):c.245G>T (p.Arg82Leu)
NM_006642.5(SDCCAG8):c.263A>G (p.Glu88Gly)
NM_006642.5(SDCCAG8):c.277C>T (p.Pro93Ser) rs1284369812
NM_006642.5(SDCCAG8):c.284GAA[2] (p.Arg97del) rs751190536
NM_006642.5(SDCCAG8):c.309G>T (p.Arg103Ser)
NM_006642.5(SDCCAG8):c.31G>C (p.Glu11Gln) rs773442925
NM_006642.5(SDCCAG8):c.331A>G (p.Asn111Asp)
NM_006642.5(SDCCAG8):c.359A>T (p.His120Leu)
NM_006642.5(SDCCAG8):c.374A>C (p.Gln125Pro) rs2149268706
NM_006642.5(SDCCAG8):c.398A>G (p.Glu133Gly)
NM_006642.5(SDCCAG8):c.416G>T (p.Cys139Phe) rs773522256
NM_006642.5(SDCCAG8):c.420+5G>A
NM_006642.5(SDCCAG8):c.420G>T (p.Lys140Asn)
NM_006642.5(SDCCAG8):c.426A>T (p.Glu142Asp)
NM_006642.5(SDCCAG8):c.427C>G (p.Leu143Val) rs371179612
NM_006642.5(SDCCAG8):c.431C>T (p.Ser144Phe) rs1453249734
NM_006642.5(SDCCAG8):c.439A>G (p.Lys147Glu)
NM_006642.5(SDCCAG8):c.43G>A (p.Gly15Arg)
NM_006642.5(SDCCAG8):c.452A>G (p.Gln151Arg)
NM_006642.5(SDCCAG8):c.472G>A (p.Glu158Lys)
NM_006642.5(SDCCAG8):c.48G>T (p.Gln16His) rs1398602761
NM_006642.5(SDCCAG8):c.547-3T>C
NM_006642.5(SDCCAG8):c.553A>G (p.Met185Val)
NM_006642.5(SDCCAG8):c.557A>C (p.His186Pro)
NM_006642.5(SDCCAG8):c.557A>G (p.His186Arg)
NM_006642.5(SDCCAG8):c.578G>C (p.Gly193Ala) rs750128305
NM_006642.5(SDCCAG8):c.620C>T (p.Ser207Phe) rs1182767716
NM_006642.5(SDCCAG8):c.62_64dup (p.Leu21_Arg22insLeu)
NM_006642.5(SDCCAG8):c.655G>T (p.Ala219Ser) rs2149295739
NM_006642.5(SDCCAG8):c.675+5G>C rs968117633
NM_006642.5(SDCCAG8):c.676-3T>C
NM_006642.5(SDCCAG8):c.682C>G (p.Leu228Val)
NM_006642.5(SDCCAG8):c.683T>C (p.Leu228Pro) rs776422346
NM_006642.5(SDCCAG8):c.68A>G (p.Glu23Gly) rs2067967236
NM_006642.5(SDCCAG8):c.71A>G (p.His24Arg)
NM_006642.5(SDCCAG8):c.721T>C (p.Ser241Pro)
NM_006642.5(SDCCAG8):c.745G>T (p.Asp249Tyr)
NM_006642.5(SDCCAG8):c.760C>G (p.Gln254Glu) rs2149319564
NM_006642.5(SDCCAG8):c.761A>G (p.Gln254Arg)
NM_006642.5(SDCCAG8):c.766A>C (p.Thr256Pro) rs2072330865
NM_006642.5(SDCCAG8):c.76A>G (p.Ser26Gly) rs1179385721
NM_006642.5(SDCCAG8):c.815C>T (p.Ala272Val)
NM_006642.5(SDCCAG8):c.83G>A (p.Ser28Asn) rs2149262996
NM_006642.5(SDCCAG8):c.865C>T (p.His289Tyr)
NM_006642.5(SDCCAG8):c.916G>A (p.Glu306Lys) rs777002036
NM_006642.5(SDCCAG8):c.921A>T (p.Arg307Ser) rs2072347543
NM_006642.5(SDCCAG8):c.952G>C (p.Ala318Pro) rs2073277628
NM_006642.5(SDCCAG8):c.953C>T (p.Ala318Val)
NM_006642.5(SDCCAG8):c.966_977dup (p.Arg323_Leu326dup) rs1365929568
NM_006642.5(SDCCAG8):c.986C>G (p.Thr329Arg)
NM_006642.5(SDCCAG8):c.998A>T (p.Glu333Val) rs2149331580
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala) rs2042173963
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly) rs775902514
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu) rs760829793
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly) rs2135917595
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup) rs2042177715
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys) rs2135917914
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp) rs748917124
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr) rs2042180668
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro) rs2042181037
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn) rs374832717
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg) rs550044351
NM_014956.5(CEP164):c.1152+2dup rs1592221277
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys) rs2135971658
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile) rs759452273
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp) rs1394172852
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn) rs2042669971
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser) rs2042670551
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln) rs2038553739
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly) rs2136011109
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe) rs2042677558
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro) rs143370558
NM_014956.5(CEP164):c.1317+3G>A rs886038607
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly) rs2136117768
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala) rs2136118190
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys) rs2043218577
NM_014956.5(CEP164):c.1409+3A>T
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys) rs1565542472
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg) rs1277555628
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val) rs868163339
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys) rs757278608
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln) rs2136140136
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser) rs114396665
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val) rs1293561746
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe) rs2043350919
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr) rs997835172
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe) rs997835172
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr) rs112527080
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg) rs758286092
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala) rs200464405
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu) rs1053615798
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del) rs771007283
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu) rs757579833
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly) rs2136244485
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr) rs758890143
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala) rs865780691
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln) rs1565560519
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly) rs2136244992
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser) rs150956860
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
NM_014956.5(CEP164):c.1909C>A (p.His637Asn) rs2044090246
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys) rs2044090670
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp) rs1435675301
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe) rs2136247338
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
NM_014956.5(CEP164):c.195-10C>A
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys) rs746865666
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del) rs1393409770
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro) rs776074093
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys) rs1332049981
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp) rs778301430
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr) rs2136323032
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val) rs2136323172
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys) rs2136324049
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val) rs763926600
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg) rs757911593
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr) rs1565578311
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly) rs2039670463
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
NM_014956.5(CEP164):c.2362G>A (p.Val788Met) rs2044795731
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
NM_014956.5(CEP164):c.2490C>G (p.His830Gln) rs532278621
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp) rs1395693893
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
NM_014956.5(CEP164):c.2519G>A (p.Arg840His) rs201901144
NM_014956.5(CEP164):c.2527G>A (p.Val843Met) rs566117718
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr) rs371143032
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
NM_014956.5(CEP164):c.2616+5C>G rs2136378582
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val) rs2045131646
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg) rs752659513
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln) rs1387200155
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
NM_014956.5(CEP164):c.272A>G (p.His91Arg) rs2039675348
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly) rs541217768
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu) rs550799764
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro) rs748681315
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu) rs958659489
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly) rs374045323
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr) rs749310077
NM_014956.5(CEP164):c.2834_2844+13dup rs765251449
NM_014956.5(CEP164):c.2844+5G>C rs2136434803
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp) rs767099855
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly) rs2045276386
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
NM_014956.5(CEP164):c.2889G>T (p.Gln963His) rs2045277340
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup) rs2045276879
NM_014956.5(CEP164):c.28G>C (p.Asp10His) rs2135058109
NM_014956.5(CEP164):c.2913+4T>G
NM_014956.5(CEP164):c.2913G>A (p.Glu971=) rs2136439892
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr) rs1251181865
NM_014956.5(CEP164):c.2965C>A (p.His989Asn) rs2045329063
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
NM_014956.5(CEP164):c.2988G>T (p.Gln996His) rs1565593444
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val) rs2136452126
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly) rs115387935
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln) rs138868323
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His) rs1281977880
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu) rs2045343660
NM_014956.5(CEP164):c.3089+5C>T
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr) rs2045343883
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys) rs2045422580
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser) rs2136466815
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe) rs2136467124
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr) rs2136467201
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys) rs2136482246
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln) rs911561261
NM_014956.5(CEP164):c.3278+5G>A rs1382315277
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr) rs764825500
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala) rs1455570319
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro) rs144910893
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu) rs753895198
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu) rs2136502331
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His) rs143802594
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu) rs143802594
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly) rs2136503745
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
NM_014956.5(CEP164):c.347A>T (p.Lys116Met) rs867484690
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys) rs138487235
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn) rs2136505455
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val) rs772378117
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp) rs2136880769
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val) rs2046909808
NM_014956.5(CEP164):c.3609+2_3609+5dup
NM_014956.5(CEP164):c.3609+4C>T
NM_014956.5(CEP164):c.3609+9C>G
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe) rs2047007327
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg) rs2047009414
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser) rs1565634414
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly) rs2135446465
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys) rs375184395
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly) rs2135446492
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser) rs745898523
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His) rs775665636
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys) rs2047016520
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser) rs1458226426
NM_014956.5(CEP164):c.3749-5_3761dup rs2136932910
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn) rs1270766012
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del) rs752854208
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg) rs748443825
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg) rs143659874
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe) rs2047109121
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu) rs758693012
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3]) rs1555159397
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu) rs145100782
NM_014956.5(CEP164):c.393+5G>A rs1230691362
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs) rs2136940605
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro) rs2136940823
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser) rs769315243
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys) rs2136941463
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro) rs148987415
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu) rs377401620
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys) rs73016324
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
NM_014956.5(CEP164):c.4163+3_4163+6del rs2047273023
NM_014956.5(CEP164):c.4163+6C>T rs576293282
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg) rs1274336690
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro) rs772989312
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp) rs745904143
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln) rs560527787
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro) rs560527787
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly) rs2137001261
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs) rs2047398079
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
NM_014956.5(CEP164):c.4287-6G>A rs2137006602
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His) rs2137008848
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
NM_014956.5(CEP164):c.485G>A (p.Arg162His) rs139763142
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser) rs770996340
NM_014956.5(CEP164):c.547A>C (p.Met183Leu) rs749917447
NM_014956.5(CEP164):c.547A>G (p.Met183Val) rs749917447
NM_014956.5(CEP164):c.548T>C (p.Met183Thr) rs144206271
NM_014956.5(CEP164):c.553-12_688-79del rs2135702447
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu) rs1354068792
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser) rs2135703292
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser) rs2135703365
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly) rs753078424
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
NM_014956.5(CEP164):c.644_646del (p.Gly215del) rs759774330
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del) rs2135704436
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
NM_014956.5(CEP164):c.67A>G (p.Ile23Val) rs2135058910
NM_014956.5(CEP164):c.687+5T>A
NM_014956.5(CEP164):c.687+7A>G
NM_014956.5(CEP164):c.687G>C (p.Gln229His) rs2041112988
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys) rs749146317
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp) rs368668415
NM_014956.5(CEP164):c.765+3A>G
NM_014956.5(CEP164):c.765+4A>T
NM_014956.5(CEP164):c.765+6A>G rs2041252535
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys) rs2135912954
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del) rs764638875
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys) rs565845914
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly) rs1411607770
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys) rs772164945
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu) rs376214075
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile) rs2135914534
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser) rs566379982
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn) rs2042170733
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)
NM_025132.4(WDR19):c.1012A>T (p.Thr338Ser) rs1729016178
NM_025132.4(WDR19):c.1070G>A (p.Cys357Tyr)
NM_025132.4(WDR19):c.1099C>G (p.Leu367Val) rs1064797308
NM_025132.4(WDR19):c.1112C>T (p.Thr371Ile) rs2109326721
NM_025132.4(WDR19):c.1142C>G (p.Pro381Arg)
NM_025132.4(WDR19):c.1150G>A (p.Val384Ile) rs2109327092
NM_025132.4(WDR19):c.11T>C (p.Ile4Thr) rs2109740507
NM_025132.4(WDR19):c.1234G>A (p.Val412Ile) rs1729054259
NM_025132.4(WDR19):c.1241G>A (p.Gly414Glu)
NM_025132.4(WDR19):c.1262T>G (p.Leu421Trp)
NM_025132.4(WDR19):c.1323T>A (p.Ala441=) rs2109329846
NM_025132.4(WDR19):c.1327C>A (p.Leu443Ile) rs1368404511
NM_025132.4(WDR19):c.1328T>C (p.Leu443Pro) rs1729154313
NM_025132.4(WDR19):c.1342G>A (p.Val448Ile) rs760418892
NM_025132.4(WDR19):c.1342G>C (p.Val448Leu) rs760418892
NM_025132.4(WDR19):c.1352A>G (p.His451Arg)
NM_025132.4(WDR19):c.1356+4A>G
NM_025132.4(WDR19):c.1373T>C (p.Leu458Ser) rs1729252548
NM_025132.4(WDR19):c.1384GAA[1] (p.Glu463del) rs763535788
NM_025132.4(WDR19):c.1385A>T (p.Glu462Val) rs2109331852
NM_025132.4(WDR19):c.1427G>C (p.Cys476Ser)
NM_025132.4(WDR19):c.1462C>T (p.Leu488Phe) rs1560503998
NM_025132.4(WDR19):c.1479T>C (p.Asp493=) rs1207013785
NM_025132.4(WDR19):c.1493A>G (p.Gln498Arg) rs2109349675
NM_025132.4(WDR19):c.1537C>A (p.His513Asn) rs2109349795
NM_025132.4(WDR19):c.1541C>A (p.Pro514His)
NM_025132.4(WDR19):c.1576G>A (p.Gly526Arg) rs1335665760
NM_025132.4(WDR19):c.1658A>G (p.Asp553Gly)
NM_025132.4(WDR19):c.1673T>C (p.Ile558Thr) rs1730480639
NM_025132.4(WDR19):c.1681G>A (p.Val561Ile)
NM_025132.4(WDR19):c.1711G>A (p.Gly571Ser) rs2109357664
NM_025132.4(WDR19):c.1730A>G (p.Asp577Gly)
NM_025132.4(WDR19):c.1732G>A (p.Asp578Asn)
NM_025132.4(WDR19):c.1762A>G (p.Lys588Glu) rs1469699848
NM_025132.4(WDR19):c.1772T>C (p.Ile591Thr)
NM_025132.4(WDR19):c.1775A>T (p.Gln592Leu) rs190192706
NM_025132.4(WDR19):c.1778G>A (p.Gly593Glu)
NM_025132.4(WDR19):c.1810G>T (p.Val604Phe) rs1245108212
NM_025132.4(WDR19):c.1816T>C (p.Phe606Leu) rs2109358423
NM_025132.4(WDR19):c.1856C>A (p.Thr619Asn)
NM_025132.4(WDR19):c.186G>C (p.Trp62Cys) rs2109250538
NM_025132.4(WDR19):c.1919A>C (p.Asn640Thr) rs2109358802
NM_025132.4(WDR19):c.1919A>T (p.Asn640Ile) rs2109358802
NM_025132.4(WDR19):c.1944A>T (p.Glu648Asp) rs2109358945
NM_025132.4(WDR19):c.1951C>G (p.Pro651Ala) rs2109358967
NM_025132.4(WDR19):c.1954A>G (p.Met652Val)
NM_025132.4(WDR19):c.197G>A (p.Gly66Glu) rs780621466
NM_025132.4(WDR19):c.1994C>T (p.Ala665Val)
NM_025132.4(WDR19):c.2003T>C (p.Met668Thr) rs1577943470
NM_025132.4(WDR19):c.2023G>A (p.Glu675Lys)
NM_025132.4(WDR19):c.2030C>T (p.Ala677Val) rs2109366909
NM_025132.4(WDR19):c.2056C>G (p.Leu686Val)
NM_025132.4(WDR19):c.2057T>C (p.Leu686Pro)
NM_025132.4(WDR19):c.2059C>T (p.His687Tyr) rs1577943727
NM_025132.4(WDR19):c.2074G>C (p.Glu692Gln) rs1730907908
NM_025132.4(WDR19):c.2083A>G (p.Ile695Val)
NM_025132.4(WDR19):c.2114G>A (p.Gly705Asp)
NM_025132.4(WDR19):c.2143-12T>G
NM_025132.4(WDR19):c.2146A>G (p.Ile716Val)
NM_025132.4(WDR19):c.2167G>C (p.Ala723Pro) rs2109368181
NM_025132.4(WDR19):c.2183T>A (p.Met728Lys)
NM_025132.4(WDR19):c.2185T>C (p.Phe729Leu)
NM_025132.4(WDR19):c.2201A>G (p.Asn734Ser)
NM_025132.4(WDR19):c.2203C>G (p.Leu735Val)
NM_025132.4(WDR19):c.2213A>T (p.Asp738Val) rs1307951215
NM_025132.4(WDR19):c.2218T>C (p.Tyr740His) rs886059399
NM_025132.4(WDR19):c.2236C>T (p.Pro746Ser) rs372232320
NM_025132.4(WDR19):c.2237C>G (p.Pro746Arg) rs2109368525
NM_025132.4(WDR19):c.223A>C (p.Lys75Gln)
NM_025132.4(WDR19):c.2248C>G (p.Leu750Val)
NM_025132.4(WDR19):c.2285C>T (p.Ala762Val)
NM_025132.4(WDR19):c.2302C>A (p.His768Asn) rs2109377406
NM_025132.4(WDR19):c.2305T>G (p.Leu769Val)
NM_025132.4(WDR19):c.2312C>T (p.Pro771Leu) rs1249345016
NM_025132.4(WDR19):c.2320A>T (p.Ile774Leu) rs762043395
NM_025132.4(WDR19):c.2324C>G (p.Pro775Arg) rs1731220593
NM_025132.4(WDR19):c.233G>A (p.Cys78Tyr) rs200354828
NM_025132.4(WDR19):c.2377A>G (p.Asn793Asp) rs780435361
NM_025132.4(WDR19):c.2381C>G (p.Ala794Gly)
NM_025132.4(WDR19):c.2386G>T (p.Ala796Ser)
NM_025132.4(WDR19):c.2404A>G (p.Ile802Val) rs750584650
NM_025132.4(WDR19):c.2411G>A (p.Gly804Asp)
NM_025132.4(WDR19):c.2413G>A (p.Asp805Asn)
NM_025132.4(WDR19):c.2414A>T (p.Asp805Val)
NM_025132.4(WDR19):c.2421+5C>A rs563302411
NM_025132.4(WDR19):c.2422G>C (p.Glu808Gln)
NM_025132.4(WDR19):c.2428G>T (p.Asp810Tyr) rs1168307194
NM_025132.4(WDR19):c.2435C>G (p.Ala812Gly)
NM_025132.4(WDR19):c.2472G>A (p.Met824Ile) rs1175997746
NM_025132.4(WDR19):c.2479A>G (p.Ile827Val) rs2109405829
NM_025132.4(WDR19):c.2480T>G (p.Ile827Arg)
NM_025132.4(WDR19):c.2483G>A (p.Arg828His)
NM_025132.4(WDR19):c.2483G>C (p.Arg828Pro)
NM_025132.4(WDR19):c.2485C>G (p.Arg829Gly)
NM_025132.4(WDR19):c.2486G>A (p.Arg829Gln)
NM_025132.4(WDR19):c.2503C>G (p.Leu835Val)
NM_025132.4(WDR19):c.2551G>A (p.Glu851Lys)
NM_025132.4(WDR19):c.2562+19_2562+28del
NM_025132.4(WDR19):c.2562+5T>C
NM_025132.4(WDR19):c.2563-3T>C
NM_025132.4(WDR19):c.2563-6T>C rs1213227553
NM_025132.4(WDR19):c.2591A>G (p.Glu864Gly)
NM_025132.4(WDR19):c.2597G>A (p.Gly866Asp) rs2109406612
NM_025132.4(WDR19):c.2629A>C (p.Ile877Leu) rs2109406828
NM_025132.4(WDR19):c.2633G>A (p.Arg878His)
NM_025132.4(WDR19):c.2635T>C (p.Ser879Pro) rs2109406888
NM_025132.4(WDR19):c.2646-16G>A
NM_025132.4(WDR19):c.2646-9C>T
NM_025132.4(WDR19):c.2648C>T (p.Ala883Val) rs1328854619
NM_025132.4(WDR19):c.2681C>T (p.Ser894Phe) rs2109410308
NM_025132.4(WDR19):c.2683C>G (p.Pro895Ala) rs1732419230
NM_025132.4(WDR19):c.2683_2685del (p.Pro895del)
NM_025132.4(WDR19):c.2684C>A (p.Pro895His) rs774529884
NM_025132.4(WDR19):c.2691C>G (p.Ile897Met)
NM_025132.4(WDR19):c.270C>T (p.Ser90=) rs1725957452
NM_025132.4(WDR19):c.2743G>C (p.Val915Leu)
NM_025132.4(WDR19):c.2749G>A (p.Ala917Thr)
NM_025132.4(WDR19):c.2777G>T (p.Ser926Ile) rs751386429
NM_025132.4(WDR19):c.2782A>T (p.Ile928Phe) rs780963454
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro) rs201685269
NM_025132.4(WDR19):c.2816A>C (p.Glu939Ala)
NM_025132.4(WDR19):c.2828A>C (p.Asn943Thr) rs778487491
NM_025132.4(WDR19):c.2828A>G (p.Asn943Ser) rs778487491
NM_025132.4(WDR19):c.2833G>A (p.Val945Ile)
NM_025132.4(WDR19):c.2869G>A (p.Val957Ile)
NM_025132.4(WDR19):c.2880T>G (p.Phe960Leu) rs1171033092
NM_025132.4(WDR19):c.2891T>C (p.Leu964Pro) rs1733504639
NM_025132.4(WDR19):c.290G>A (p.Arg97Lys)
NM_025132.4(WDR19):c.292G>T (p.Asp98Tyr) rs1317389016
NM_025132.4(WDR19):c.2934A>C (p.Lys978Asn)
NM_025132.4(WDR19):c.2941A>C (p.Asn981His) rs1486655648
NM_025132.4(WDR19):c.2977A>G (p.Met993Val) rs1733514837
NM_025132.4(WDR19):c.2978T>C (p.Met993Thr) rs750227475
NM_025132.4(WDR19):c.2987A>G (p.Tyr996Cys)
NM_025132.4(WDR19):c.2990C>A (p.Ala997Glu) rs1381022232
NM_025132.4(WDR19):c.3000T>C (p.Ile1000=) rs1733517192
NM_025132.4(WDR19):c.3002G>A (p.Gly1001Asp)
NM_025132.4(WDR19):c.3045A>T (p.Leu1015Phe)
NM_025132.4(WDR19):c.3066A>G (p.Arg1022=)
NM_025132.4(WDR19):c.3068A>G (p.Tyr1023Cys) rs759424617
NM_025132.4(WDR19):c.3105A>G (p.Gln1035=)
NM_025132.4(WDR19):c.3110C>T (p.Ser1037Leu) rs1224983700
NM_025132.4(WDR19):c.3114+4A>G
NM_025132.4(WDR19):c.3129C>G (p.Phe1043Leu)
NM_025132.4(WDR19):c.3140C>A (p.Pro1047Gln)
NM_025132.4(WDR19):c.3151G>T (p.Asp1051Tyr) rs1387754769
NM_025132.4(WDR19):c.3156T>G (p.Asn1052Lys) rs2109452251
NM_025132.4(WDR19):c.3158T>C (p.Val1053Ala)
NM_025132.4(WDR19):c.3160G>T (p.Ala1054Ser) rs756862143
NM_025132.4(WDR19):c.3183+3A>G
NM_025132.4(WDR19):c.3225_3230del (p.Asp1076_His1077del)
NM_025132.4(WDR19):c.3229C>G (p.His1077Asp)
NM_025132.4(WDR19):c.3230A>G (p.His1077Arg)
NM_025132.4(WDR19):c.3232C>T (p.Leu1078Phe)
NM_025132.4(WDR19):c.3236T>C (p.Leu1079Pro) rs2109483428
NM_025132.4(WDR19):c.3251G>T (p.Gly1084Val) rs1394317306
NM_025132.4(WDR19):c.3262-8T>C
NM_025132.4(WDR19):c.3289A>C (p.Met1097Leu)
NM_025132.4(WDR19):c.3289A>T (p.Met1097Leu)
NM_025132.4(WDR19):c.328A>G (p.Ser110Gly) rs2109264662
NM_025132.4(WDR19):c.3311A>T (p.Glu1104Val) rs1734985961
NM_025132.4(WDR19):c.332T>G (p.Phe111Cys)
NM_025132.4(WDR19):c.3337G>T (p.Ala1113Ser)
NM_025132.4(WDR19):c.333C>A (p.Phe111Leu) rs755327576
NM_025132.4(WDR19):c.3349C>A (p.Gln1117Lys)
NM_025132.4(WDR19):c.3355G>A (p.Ala1119Thr) rs915717367
NM_025132.4(WDR19):c.3358+12A>G rs2109490722
NM_025132.4(WDR19):c.3359-5T>A
NM_025132.4(WDR19):c.3373G>A (p.Ala1125Thr)
NM_025132.4(WDR19):c.3374C>T (p.Ala1125Val) rs1735186262
NM_025132.4(WDR19):c.3391A>G (p.Ser1131Gly) rs2109496811
NM_025132.4(WDR19):c.3395T>G (p.Met1132Arg) rs2109496840
NM_025132.4(WDR19):c.3449A>C (p.Asn1150Thr) rs2109497125
NM_025132.4(WDR19):c.3466A>G (p.Ser1156Gly) rs2109497278
NM_025132.4(WDR19):c.3470A>G (p.Tyr1157Cys) rs1735198326
NM_025132.4(WDR19):c.3508A>G (p.Met1170Val) rs371474583
NM_025132.4(WDR19):c.3511A>G (p.Lys1171Glu)
NM_025132.4(WDR19):c.3513A>T (p.Lys1171Asn) rs765379022
NM_025132.4(WDR19):c.3520C>A (p.Arg1174Ser) rs755139948
NM_025132.4(WDR19):c.3521G>T (p.Arg1174Leu) rs372719724
NM_025132.4(WDR19):c.3545A>G (p.Asn1182Ser) rs1277873234
NM_025132.4(WDR19):c.3547A>G (p.Ile1183Val)
NM_025132.4(WDR19):c.3566-6T>A
NM_025132.4(WDR19):c.3584C>T (p.Thr1195Met)
NM_025132.4(WDR19):c.3596T>C (p.Ile1199Thr)
NM_025132.4(WDR19):c.359A>T (p.Asn120Ile) rs2109264782
NM_025132.4(WDR19):c.3614G>C (p.Gly1205Ala)
NM_025132.4(WDR19):c.3634A>G (p.Ser1212Gly)
NM_025132.4(WDR19):c.3636C>G (p.Ser1212Arg) rs2109514971
NM_025132.4(WDR19):c.3651G>T (p.Leu1217Phe)
NM_025132.4(WDR19):c.3659C>T (p.Pro1220Leu) rs1735748675
NM_025132.4(WDR19):c.3668G>C (p.Arg1223Pro)
NM_025132.4(WDR19):c.3681T>G (p.Asp1227Glu) rs573727744
NM_025132.4(WDR19):c.3691A>G (p.Lys1231Glu)
NM_025132.4(WDR19):c.371A>G (p.Tyr124Cys) rs2109264795
NM_025132.4(WDR19):c.3728T>C (p.Ile1243Thr)
NM_025132.4(WDR19):c.373A>C (p.Asn125His)
NM_025132.4(WDR19):c.376C>T (p.His126Tyr)
NM_025132.4(WDR19):c.3775C>A (p.Leu1259Ile) rs886059403
NM_025132.4(WDR19):c.3784G>A (p.Glu1262Lys) rs1553919125
NM_025132.4(WDR19):c.3788G>A (p.Cys1263Tyr) rs1735978246
NM_025132.4(WDR19):c.3834T>G (p.Ile1278Met) rs1735983084
NM_025132.4(WDR19):c.3851T>C (p.Met1284Thr) rs1438498947
NM_025132.4(WDR19):c.3869C>T (p.Thr1290Met) rs1301360733
NM_025132.4(WDR19):c.388C>G (p.Arg130Gly)
NM_025132.4(WDR19):c.3913_3917+1dup rs1736099193
NM_025132.4(WDR19):c.3918C>T (p.Ile1306=)
NM_025132.4(WDR19):c.3926A>T (p.Asn1309Ile) rs1736142058
NM_025132.4(WDR19):c.3946A>C (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3946A>T (p.Met1316Leu) rs1736144507
NM_025132.4(WDR19):c.3959G>C (p.Arg1320Thr) rs1736145510
NM_025132.4(WDR19):c.4006C>G (p.Leu1336Val)
NM_025132.4(WDR19):c.4006_4013del (p.Leu1336fs) rs2109526590
NM_025132.4(WDR19):c.4009C>G (p.Arg1337Gly) rs367721770
NM_025132.4(WDR19):c.4009C>T (p.Arg1337Ter)
NM_025132.4(WDR19):c.4010G>A (p.Arg1337Gln) rs745506402
NM_025132.4(WDR19):c.4021G>A (p.Glu1341Lys)
NM_025132.4(WDR19):c.437G>A (p.Cys146Tyr)
NM_025132.4(WDR19):c.522+8A>G
NM_025132.4(WDR19):c.535T>C (p.Ser179Pro)
NM_025132.4(WDR19):c.53A>G (p.Gln18Arg)
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025132.4(WDR19):c.580C>G (p.Arg194Gly) rs1445634325
NM_025132.4(WDR19):c.603+17A>G rs2109296086
NM_025132.4(WDR19):c.604A>G (p.Ile202Val)
NM_025132.4(WDR19):c.628A>G (p.Thr210Ala)
NM_025132.4(WDR19):c.631T>G (p.Leu211Val)
NM_025132.4(WDR19):c.636T>G (p.Phe212Leu) rs1727819329
NM_025132.4(WDR19):c.650A>G (p.Asn217Ser)
NM_025132.4(WDR19):c.65A>C (p.Gln22Pro) rs2109740775
NM_025132.4(WDR19):c.673C>A (p.Leu225Ile) rs1727822059
NM_025132.4(WDR19):c.696C>T (p.Gly232=)
NM_025132.4(WDR19):c.697A>G (p.Asn233Asp)
NM_025132.4(WDR19):c.7-5T>G rs1725441027
NM_025132.4(WDR19):c.716+4T>A rs2109300292
NM_025132.4(WDR19):c.727G>A (p.Gly243Ser) rs1727857328
NM_025132.4(WDR19):c.731G>C (p.Arg244Pro)
NM_025132.4(WDR19):c.77G>C (p.Gly26Ala) rs2109740825
NM_025132.4(WDR19):c.7C>T (p.Arg3Cys)
NM_025132.4(WDR19):c.806T>C (p.Phe269Ser) rs1727870637
NM_025132.4(WDR19):c.812C>T (p.Ala271Val) rs981943939
NM_025132.4(WDR19):c.814C>T (p.Arg272Cys) rs199812132
NM_025132.4(WDR19):c.815G>A (p.Arg272His)
NM_025132.4(WDR19):c.825_830del (p.Lys275_Asp276del)
NM_025132.4(WDR19):c.82T>C (p.Tyr28His)
NM_025132.4(WDR19):c.840C>G (p.Ser280Arg)
NM_025132.4(WDR19):c.841A>C (p.Ile281Leu) rs1727876160
NM_025132.4(WDR19):c.925A>G (p.Met309Val)
NM_025132.4(WDR19):c.941A>G (p.Asn314Ser)
NM_025132.4(WDR19):c.956A>G (p.Asn319Ser) rs1728875659
NM_025132.4(WDR19):c.959A>T (p.Lys320Ile) rs1577897014

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