ClinVar Miner

List of variants in gene ACD studied for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 858
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00508
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00237
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00169
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00060
NM_001082486.2(ACD):c.46C>A (p.Leu16Met) rs200365807 0.00044
NM_001082486.2(ACD):c.997G>A (p.Ala333Thr) rs202104741 0.00032
NM_001082486.2(ACD):c.109G>A (p.Asp37Asn) rs142662151 0.00031
NM_001082486.2(ACD):c.1152G>A (p.Pro384=) rs147116458 0.00019
NM_001082486.2(ACD):c.879C>T (p.Ser293=) rs369069351 0.00017
NM_001082486.2(ACD):c.837G>A (p.Pro279=) rs201965477 0.00015
NC_000016.10:g.67660444C>G rs377118118 0.00014
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965 0.00013
NM_001082486.2(ACD):c.1316T>C (p.Met439Thr) rs202222217 0.00010
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00009
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NM_001082486.2(ACD):c.1226G>A (p.Arg409His) rs374742891 0.00005
NM_001082486.2(ACD):c.1268C>T (p.Thr423Met) rs372747629 0.00005
NM_001082486.2(ACD):c.617A>C (p.His206Pro) rs755371076 0.00005
NM_001082486.2(ACD):c.793C>G (p.Leu265Val) rs200934242 0.00005
NC_000016.10:g.67660459C>G rs373593390 0.00004
NC_000016.10:g.67660470G>C rs201685459 0.00004
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00004
NM_001082486.2(ACD):c.446A>G (p.Tyr149Cys) rs200909340 0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=) rs755523137 0.00004
NM_001082486.2(ACD):c.741G>C (p.Gln247His) rs776468683 0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=) rs751515020 0.00004
NM_001082486.2(ACD):c.873T>A (p.Gly291=) rs1011399056 0.00004
NM_001082486.2(ACD):c.944C>A (p.Pro315His) rs147306863 0.00004
NC_000016.10:g.67660300A>C rs753367228 0.00003
NC_000016.10:g.67660452G>A rs780167082 0.00003
NM_001082486.2(ACD):c.-24C>T rs770445581 0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=) rs769298187 0.00003
NM_001082486.2(ACD):c.1077G>C (p.Gln359His) rs200526158 0.00003
NM_001082486.2(ACD):c.1151C>T (p.Pro384Leu) rs781117606 0.00003
NM_001082486.2(ACD):c.1201G>A (p.Val401Ile) rs771802167 0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=) rs751284994 0.00003
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=) rs146942923 0.00003
NM_001082486.2(ACD):c.28C>A (p.Arg10=) rs775787415 0.00003
NM_001082486.2(ACD):c.602C>T (p.Ala201Val) rs777707916 0.00003
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=) rs1459307216 0.00003
NM_001082486.2(ACD):c.980C>G (p.Thr327Ser) rs1300291520 0.00003
NM_001082486.2(ACD):c.981C>T (p.Thr327=) rs758239452 0.00003
NM_001082486.2(ACD):c.996C>T (p.His332=) rs560864093 0.00003
NM_001082486.2(ACD):c.-6G>A rs762014701 0.00002
NM_001082486.2(ACD):c.1211C>A (p.Pro404His) rs201907421 0.00002
NM_001082486.2(ACD):c.1217A>G (p.Lys406Arg) rs773274371 0.00002
NM_001082486.2(ACD):c.1370C>T (p.Pro457Leu) rs150387011 0.00002
NM_001082486.2(ACD):c.137C>T (p.Ser46Phe) rs1364303645 0.00002
NM_001082486.2(ACD):c.159C>T (p.Asp53=) rs761226246 0.00002
NM_001082486.2(ACD):c.266G>T (p.Arg89Leu) rs762580062 0.00002
NM_001082486.2(ACD):c.591C>T (p.Gly197=) rs376086019 0.00002
NM_001082486.2(ACD):c.599C>T (p.Thr200Ile) rs1181866888 0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=) rs375866577 0.00002
NM_001082486.2(ACD):c.696T>C (p.Asn232=) rs544679646 0.00002
NM_001082486.2(ACD):c.733A>G (p.Arg245Gly) rs1466387773 0.00002
NM_001082486.2(ACD):c.790A>G (p.Thr264Ala) rs750368038 0.00002
NM_001082486.2(ACD):c.812C>A (p.Ser271Tyr) rs1472839808 0.00002
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser) rs1260047390 0.00002
NM_001082486.2(ACD):c.853A>G (p.Met285Val) rs780951085 0.00002
NM_001082486.2(ACD):c.950C>T (p.Pro317Leu) rs1006777863 0.00002
NC_000016.10:g.67660262C>T rs558547634 0.00001
NC_000016.10:g.67660264G>T rs765105630 0.00001
NC_000016.10:g.67660278C>G rs1327141871 0.00001
NC_000016.10:g.67660297G>A rs1179431836 0.00001
NC_000016.10:g.67660304C>T rs1406176384 0.00001
NC_000016.10:g.67660305C>T rs780457506 0.00001
NC_000016.10:g.67660325G>T rs1438728678 0.00001
NC_000016.10:g.67660461C>G rs1479317574 0.00001
NC_000016.10:g.67660472C>G rs1198686319 0.00001
NM_001082486.1(ACD):c.154C>T (p.Leu52Phe) rs1438728678 0.00001
NM_001082486.1(ACD):c.160C>T (p.Pro54Ser) rs1258515164 0.00001
NM_001082486.1(ACD):c.185T>C (p.Leu62Pro) rs1373085952 0.00001
NM_001082486.1(ACD):c.199G>T (p.Gly67Trp) rs1208257080 0.00001
NM_001082486.1(ACD):c.216G>C (p.Ala72=) rs759493487 0.00001
NM_001082486.1(ACD):c.38T>C (p.Val13Ala) rs757375976 0.00001
NM_001082486.2(ACD):c.-18C>T rs1567642799 0.00001
NM_001082486.2(ACD):c.-1G>C rs1432567553 0.00001
NM_001082486.2(ACD):c.-20C>T rs148124985 0.00001
NM_001082486.2(ACD):c.-31C>G rs775903443 0.00001
NM_001082486.2(ACD):c.-32G>A rs768960565 0.00001
NM_001082486.2(ACD):c.-37C>T rs1377497479 0.00001
NM_001082486.2(ACD):c.-38A>T rs1022549385 0.00001
NM_001082486.2(ACD):c.-7C>G rs999681254 0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=) rs372195324 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1014C>T (p.Ser338=) rs763436044 0.00001
NM_001082486.2(ACD):c.1015T>A (p.Ser339Thr) rs775917290 0.00001
NM_001082486.2(ACD):c.1018C>G (p.Pro340Ala) rs745338439 0.00001
NM_001082486.2(ACD):c.1023C>G (p.Leu341=) rs1411501589 0.00001
NM_001082486.2(ACD):c.1028G>T (p.Ser343Ile) rs1280561217 0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=) rs776364958 0.00001
NM_001082486.2(ACD):c.1038C>T (p.Pro346=) rs575100400 0.00001
NM_001082486.2(ACD):c.1052G>A (p.Arg351His) rs370293582 0.00001
NM_001082486.2(ACD):c.1056C>T (p.Ser352=) rs200227116 0.00001
NM_001082486.2(ACD):c.1063C>T (p.Pro355Ser) rs757414908 0.00001
NM_001082486.2(ACD):c.1074C>T (p.His358=) rs752017845 0.00001
NM_001082486.2(ACD):c.1078G>A (p.Ala360Thr) rs1221213032 0.00001
NM_001082486.2(ACD):c.1088C>G (p.Thr363Ser) rs996525402 0.00001
NM_001082486.2(ACD):c.1089C>T (p.Thr363=) rs1414641852 0.00001
NM_001082486.2(ACD):c.1095C>T (p.Pro365=) rs763236702 0.00001
NM_001082486.2(ACD):c.1108C>T (p.Leu370=) rs759092195 0.00001
NM_001082486.2(ACD):c.1116C>G (p.Phe372Leu) rs1308443875 0.00001
NM_001082486.2(ACD):c.1117A>G (p.Lys373Glu) rs1176289879 0.00001
NM_001082486.2(ACD):c.1119G>A (p.Lys373=) rs760234154 0.00001
NM_001082486.2(ACD):c.1125T>G (p.Phe375Leu) rs772867895 0.00001
NM_001082486.2(ACD):c.1134G>T (p.Leu378Phe) rs772002326 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=) rs756189227 0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=) rs1371779126 0.00001
NM_001082486.2(ACD):c.1166C>T (p.Thr389Ile) rs758781164 0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=) rs370757729 0.00001
NM_001082486.2(ACD):c.1181G>A (p.Gly394Glu) rs1475118457 0.00001
NM_001082486.2(ACD):c.1189G>A (p.Glu397Lys) rs2052908354 0.00001
NM_001082486.2(ACD):c.1192C>T (p.Pro398Ser) rs2543598088 0.00001
NM_001082486.2(ACD):c.1224T>C (p.His408=) rs1198341322 0.00001
NM_001082486.2(ACD):c.1225C>T (p.Arg409Cys) rs772336203 0.00001
NM_001082486.2(ACD):c.1231G>C (p.Gly411Arg) rs2052901393 0.00001
NM_001082486.2(ACD):c.1237G>T (p.Ala413Ser) rs779041176 0.00001
NM_001082486.2(ACD):c.1247A>G (p.Tyr416Cys) rs1476903915 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082486.2(ACD):c.1271C>T (p.Ser424Phe) rs2052899904 0.00001
NM_001082486.2(ACD):c.1282C>T (p.Arg428Trp) rs775323156 0.00001
NM_001082486.2(ACD):c.1314C>T (p.Leu438=) rs528476326 0.00001
NM_001082486.2(ACD):c.1320C>T (p.Ala440=) rs765091780 0.00001
NM_001082486.2(ACD):c.1342G>A (p.Asp448Asn) rs2543595736 0.00001
NM_001082486.2(ACD):c.1354G>C (p.Gly452Arg) rs768831097 0.00001
NM_001082486.2(ACD):c.1369C>G (p.Pro457Ala) rs1313859184 0.00001
NM_001082486.2(ACD):c.140A>G (p.His47Arg) rs1235862680 0.00001
NM_001082486.2(ACD):c.143C>G (p.Ala48Gly) rs755166756 0.00001
NM_001082486.2(ACD):c.151A>G (p.Thr51Ala) rs1258986215 0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=) rs1032620777 0.00001
NM_001082486.2(ACD):c.164G>T (p.Gly55Val) rs1246930718 0.00001
NM_001082486.2(ACD):c.168C>T (p.Ala56=) rs761408466 0.00001
NM_001082486.2(ACD):c.175C>T (p.Leu59Phe) rs368387402 0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=) rs998982026 0.00001
NM_001082486.2(ACD):c.191C>T (p.Thr64Ile) rs550200963 0.00001
NM_001082486.2(ACD):c.194A>G (p.His65Arg) rs757097343 0.00001
NM_001082486.2(ACD):c.202C>G (p.Arg68Gly) rs1226276218 0.00001
NM_001082486.2(ACD):c.210G>A (p.Leu70=) rs1351964633 0.00001
NM_001082486.2(ACD):c.252G>A (p.Lys84=) rs781404876 0.00001
NM_001082486.2(ACD):c.25C>A (p.Leu9Ile) rs763204816 0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=) rs752019137 0.00001
NM_001082486.2(ACD):c.264C>T (p.Phe88=) rs764626146 0.00001
NM_001082486.2(ACD):c.27A>C (p.Leu9=) rs1344221000 0.00001
NM_001082486.2(ACD):c.300C>T (p.Asp100=) rs1160720460 0.00001
NM_001082486.2(ACD):c.312T>C (p.His104=) rs1384900441 0.00001
NM_001082486.2(ACD):c.326A>T (p.Glu109Val) rs770621727 0.00001
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325 0.00001
NM_001082486.2(ACD):c.331G>A (p.Gly111Ser) rs368212170 0.00001
NM_001082486.2(ACD):c.350A>G (p.Tyr117Cys) rs775602659 0.00001
NM_001082486.2(ACD):c.350A>T (p.Tyr117Phe) rs775602659 0.00001
NM_001082486.2(ACD):c.361G>C (p.Asp121His) rs771131495 0.00001
NM_001082486.2(ACD):c.369C>T (p.Phe123=) rs1011064739 0.00001
NM_001082486.2(ACD):c.373C>T (p.Leu125=) rs2052957597 0.00001
NM_001082486.2(ACD):c.37A>T (p.Ile13Phe) rs1367481094 0.00001
NM_001082486.2(ACD):c.382A>G (p.Thr128Ala) rs748654119 0.00001
NM_001082486.2(ACD):c.416A>C (p.Asn139Thr) rs2052951744 0.00001
NM_001082486.2(ACD):c.418C>G (p.Gln140Glu) rs1405050067 0.00001
NM_001082486.2(ACD):c.427G>T (p.Asp143Tyr) rs1257437432 0.00001
NM_001082486.2(ACD):c.441G>A (p.Lys147=) rs2052951368 0.00001
NM_001082486.2(ACD):c.452G>C (p.Cys151Ser) rs1310303692 0.00001
NM_001082486.2(ACD):c.463C>T (p.His155Tyr) rs2543605597 0.00001
NM_001082486.2(ACD):c.464A>T (p.His155Leu) rs1567641501 0.00001
NM_001082486.2(ACD):c.479C>T (p.Thr160Ile) rs1210593650 0.00001
NM_001082486.2(ACD):c.480C>T (p.Thr160=) rs2543605419 0.00001
NM_001082486.2(ACD):c.483G>A (p.Ser161=) rs746663656 0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=) rs777238079 0.00001
NM_001082486.2(ACD):c.496C>T (p.Leu166=) rs1476888653 0.00001
NM_001082486.2(ACD):c.504G>A (p.Leu168=) rs1270632817 0.00001
NM_001082486.2(ACD):c.526C>T (p.Arg176Trp) rs758515562 0.00001
NM_001082486.2(ACD):c.529G>A (p.Glu177Lys) rs1271930290 0.00001
NM_001082486.2(ACD):c.546G>C (p.Gln182His) rs2052938279 0.00001
NM_001082486.2(ACD):c.555C>G (p.Leu185=) rs745443998 0.00001
NM_001082486.2(ACD):c.559T>C (p.Cys187Arg) rs771799486 0.00001
NM_001082486.2(ACD):c.567T>C (p.Ala189=) rs761367992 0.00001
NM_001082486.2(ACD):c.577C>T (p.Leu193=) rs774346517 0.00001
NM_001082486.2(ACD):c.581C>T (p.Thr194Ile) rs144087853 0.00001
NM_001082486.2(ACD):c.587A>T (p.Glu196Val) rs1400523803 0.00001
NM_001082486.2(ACD):c.590G>T (p.Gly197Val) rs780160617 0.00001
NM_001082486.2(ACD):c.595T>C (p.Cys199Arg) rs1178096586 0.00001
NM_001082486.2(ACD):c.597C>G (p.Cys199Trp) rs1417617864 0.00001
NM_001082486.2(ACD):c.607C>T (p.Pro203Ser) rs758700674 0.00001
NM_001082486.2(ACD):c.608C>T (p.Pro203Leu) rs1445067662 0.00001
NM_001082486.2(ACD):c.609T>C (p.Pro203=) rs752926001 0.00001
NM_001082486.2(ACD):c.634T>C (p.Cys212Arg) rs1412778636 0.00001
NM_001082486.2(ACD):c.645G>A (p.Thr215=) rs571116752 0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=) rs374438854 0.00001
NM_001082486.2(ACD):c.667C>T (p.Pro223Ser) rs201823240 0.00001
NM_001082486.2(ACD):c.672C>T (p.Ser224=) rs759305698 0.00001
NM_001082486.2(ACD):c.675A>C (p.Ser225=) rs776467595 0.00001
NM_001082486.2(ACD):c.67C>A (p.Pro23Thr) rs1039048796 0.00001
NM_001082486.2(ACD):c.683G>A (p.Cys228Tyr) rs748280747 0.00001
NM_001082486.2(ACD):c.687C>T (p.Ile229=) rs562990096 0.00001
NM_001082486.2(ACD):c.689C>A (p.Ser230Tyr) rs752793753 0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=) rs780267725 0.00001
NM_001082486.2(ACD):c.697G>T (p.Asp233Tyr) rs1441001313 0.00001
NM_001082486.2(ACD):c.710T>C (p.Leu237Pro) rs1399968681 0.00001
NM_001082486.2(ACD):c.716C>T (p.Ser239Phe) rs751180771 0.00001
NM_001082486.2(ACD):c.717T>C (p.Ser239=) rs143443362 0.00001
NM_001082486.2(ACD):c.718C>G (p.Leu240Val) rs1306566304 0.00001
NM_001082486.2(ACD):c.71C>T (p.Ser24Phe) rs771660128 0.00001
NM_001082486.2(ACD):c.723C>A (p.Gly241=) rs757919779 0.00001
NM_001082486.2(ACD):c.754C>A (p.Pro252Thr) rs778355633 0.00001
NM_001082486.2(ACD):c.754C>T (p.Pro252Ser) rs778355633 0.00001
NM_001082486.2(ACD):c.755C>T (p.Pro252Leu) rs2052926797 0.00001
NM_001082486.2(ACD):c.757C>T (p.Pro253Ser) rs370413440 0.00001
NM_001082486.2(ACD):c.758C>T (p.Pro253Leu) rs752205833 0.00001
NM_001082486.2(ACD):c.75T>G (p.Ser25Arg) rs2052976583 0.00001
NM_001082486.2(ACD):c.765C>T (p.Asp255=) rs1354345002 0.00001
NM_001082486.2(ACD):c.767C>T (p.Pro256Leu) rs754631809 0.00001
NM_001082486.2(ACD):c.768G>A (p.Pro256=) rs1245603152 0.00001
NM_001082486.2(ACD):c.772C>T (p.Leu258=) rs540617585 0.00001
NM_001082486.2(ACD):c.773T>C (p.Leu258Pro) rs573094162 0.00001
NM_001082486.2(ACD):c.780C>G (p.Asp260Glu) rs1254941141 0.00001
NM_001082486.2(ACD):c.781C>G (p.Leu261Val) rs760404492 0.00001
NM_001082486.2(ACD):c.791C>A (p.Thr264Asn) rs1293649438 0.00001
NM_001082486.2(ACD):c.805C>T (p.Pro269Ser) rs1424707569 0.00001
NM_001082486.2(ACD):c.809C>T (p.Pro270Leu) rs1035052101 0.00001
NM_001082486.2(ACD):c.820A>G (p.Ser274Gly) rs2052924182 0.00001
NM_001082486.2(ACD):c.821G>A (p.Ser274Asn) rs1020115914 0.00001
NM_001082486.2(ACD):c.830G>A (p.Gly277Glu) rs1298464057 0.00001
NM_001082486.2(ACD):c.836C>T (p.Pro279Leu) rs1370466465 0.00001
NM_001082486.2(ACD):c.839C>G (p.Ala280Gly) rs779705657 0.00001
NM_001082486.2(ACD):c.845C>T (p.Pro282Leu) rs1313740709 0.00001
NM_001082486.2(ACD):c.862G>A (p.Glu288Lys) rs200298308 0.00001
NM_001082486.2(ACD):c.870T>C (p.Ser290=) rs2052917578 0.00001
NM_001082486.2(ACD):c.884G>A (p.Ser295Asn) rs760978454 0.00001
NM_001082486.2(ACD):c.897C>T (p.Ala299=) rs551095255 0.00001
NM_001082486.2(ACD):c.902C>G (p.Ser301Cys) rs532542932 0.00001
NM_001082486.2(ACD):c.903C>T (p.Ser301=) rs1783907452 0.00001
NM_001082486.2(ACD):c.90G>A (p.Gln30=) rs1242526760 0.00001
NM_001082486.2(ACD):c.932G>A (p.Ser311Asn) rs748834837 0.00001
NM_001082486.2(ACD):c.937T>A (p.Ser313Thr) rs1295487812 0.00001
NM_001082486.2(ACD):c.939C>T (p.Ser313=) rs1368630251 0.00001
NM_001082486.2(ACD):c.961T>A (p.Ser321Thr) rs2052915383 0.00001
NM_001082486.2(ACD):c.992C>T (p.Pro331Leu) rs1265024699 0.00001
NC_000016.10:g.67660271C>A rs763682845
NC_000016.10:g.67660271C>T rs763682845
NC_000016.10:g.67660280C>T rs1208257080
NC_000016.10:g.67660292G>A rs2142976460
NC_000016.10:g.67660296A>G rs2052981802
NC_000016.10:g.67660300A>G rs753367228
NC_000016.10:g.67660303T>C rs756596405
NC_000016.10:g.67660322G>A rs773291286
NC_000016.10:g.67660322G>T rs773291286
NC_000016.10:g.67660326G>A rs1207134820
NC_000016.10:g.67660442C>T rs781424953
NM_001082486.1(ACD):c.157C>G (p.Arg53Gly)
NM_001082486.1(ACD):c.158G>A (p.Arg53Gln)
NM_001082486.1(ACD):c.159G>A (p.Arg53=) rs2543612507
NM_001082486.1(ACD):c.159G>C (p.Arg53=) rs2543612507
NM_001082486.1(ACD):c.161C>G (p.Pro54Arg) rs772469759
NM_001082486.1(ACD):c.162C>G (p.Pro54=) rs73597595
NM_001082486.1(ACD):c.167C>T (p.Pro56Leu) rs1442724652
NM_001082486.1(ACD):c.168A>C (p.Pro56=) rs2543612443
NM_001082486.1(ACD):c.169G>C (p.Ala57Pro)
NM_001082486.1(ACD):c.169G>T (p.Ala57Ser)
NM_001082486.1(ACD):c.170C>G (p.Ala57Gly) rs749600273
NM_001082486.1(ACD):c.170C>T (p.Ala57Val)
NM_001082486.1(ACD):c.171G>A (p.Ala57=) rs1331812977
NM_001082486.1(ACD):c.171G>C (p.Ala57=) rs1331812977
NM_001082486.1(ACD):c.173A>G (p.Lys58Arg)
NM_001082486.1(ACD):c.175G>C (p.Glu59Gln) rs1406176384
NM_001082486.1(ACD):c.177G>A (p.Glu59=) rs1567642924
NM_001082486.1(ACD):c.178C>G (p.Leu60Val) rs2543612377
NM_001082486.1(ACD):c.180T>A (p.Leu60=) rs780723982
NM_001082486.1(ACD):c.181C>T (p.Pro61Ser) rs2543612346
NM_001082486.1(ACD):c.182C>A (p.Pro61His) rs1179431836
NM_001082486.1(ACD):c.182C>G (p.Pro61Arg) rs1179431836
NM_001082486.1(ACD):c.183T>A (p.Pro61=) rs2052981802
NM_001082486.1(ACD):c.185T>A (p.Leu62His) rs1373085952
NM_001082486.1(ACD):c.186T>A (p.Leu62=) rs1470735194
NM_001082486.1(ACD):c.187C>G (p.Pro63Ala) rs2142976460
NM_001082486.1(ACD):c.189G>A (p.Pro63=) rs1237216521
NM_001082486.1(ACD):c.189G>C (p.Pro63=) rs1237216521
NM_001082486.1(ACD):c.190A>G (p.Arg64Gly) rs1465099955
NM_001082486.1(ACD):c.191G>A (p.Arg64Lys) rs2543612276
NM_001082486.1(ACD):c.192G>A (p.Arg64=) rs756973095
NM_001082486.1(ACD):c.200G>A (p.Gly67Glu) rs2543612227
NM_001082486.1(ACD):c.203C>T (p.Ala68Val) rs2543612211
NM_001082486.1(ACD):c.204C>G (p.Ala68=) rs2543612209
NM_001082486.1(ACD):c.205T>C (p.Trp69Arg) rs2543612206
NM_001082486.1(ACD):c.209C>G (p.Ala70Gly)
NM_001082486.1(ACD):c.20G>A (p.Ser7Asn) rs373593390
NM_001082486.1(ACD):c.210G>A (p.Ala70=) rs752493893
NM_001082486.1(ACD):c.211C>G (p.Pro71Ala) rs2543612167
NM_001082486.1(ACD):c.215C>T (p.Ala72Val) rs765105630
NM_001082486.1(ACD):c.216G>T (p.Ala72=) rs759493487
NM_001082486.1(ACD):c.22G>A (p.Asp8Asn) rs2543613668
NM_001082486.1(ACD):c.27C>G (p.Ala9=) rs780167082
NM_001082486.1(ACD):c.28G>A (p.Ala10Thr)
NM_001082486.1(ACD):c.30G>A (p.Ala10=) rs2052989507
NM_001082486.1(ACD):c.31A>C (p.Met11Leu) rs769875441
NM_001082486.1(ACD):c.31A>T (p.Met11Leu) rs769875441
NM_001082486.1(ACD):c.33G>A (p.Met11Ile) rs2543613601
NM_001082486.1(ACD):c.39A>G (p.Val13=) rs2543613565
NM_001082486.1(ACD):c.9C>A (p.Gly3=) rs201685459
NM_001082486.2(ACD):c.-12G>A rs2543611865
NM_001082486.2(ACD):c.-13T>G rs2543611877
NM_001082486.2(ACD):c.-17T>A rs2052979325
NM_001082486.2(ACD):c.-19G>A rs2543611933
NM_001082486.2(ACD):c.-19G>T rs2543611933
NM_001082486.2(ACD):c.-21C>T rs2052979537
NM_001082486.2(ACD):c.-22T>A rs2543611944
NM_001082486.2(ACD):c.-23A>G rs746445437
NM_001082486.2(ACD):c.-26T>G rs1486097298
NM_001082486.2(ACD):c.-27T>A rs2052979762
NM_001082486.2(ACD):c.-27T>C rs2052979762
NM_001082486.2(ACD):c.-28G>T rs1463615796
NM_001082486.2(ACD):c.-29C>A rs534010648
NM_001082486.2(ACD):c.-29C>G rs534010648
NM_001082486.2(ACD):c.-29C>T rs534010648
NM_001082486.2(ACD):c.-30C>A rs2052979977
NM_001082486.2(ACD):c.-30C>G rs2052979977
NM_001082486.2(ACD):c.-30C>T rs2052979977
NM_001082486.2(ACD):c.-31C>A rs775903443
NM_001082486.2(ACD):c.-32G>C
NM_001082486.2(ACD):c.-34G>A rs774720294
NM_001082486.2(ACD):c.-34G>C rs774720294
NM_001082486.2(ACD):c.-35C>T rs895563147
NM_001082486.2(ACD):c.-36C>G rs762184098
NM_001082486.2(ACD):c.-36C>T rs762184098
NM_001082486.2(ACD):c.-38A>G
NM_001082486.2(ACD):c.-39A>C
NM_001082486.2(ACD):c.-3G>A
NM_001082486.2(ACD):c.-4G>A rs2543611795
NM_001082486.2(ACD):c.-5T>C rs2052978830
NM_001082486.2(ACD):c.-5T>G rs2052978830
NM_001082486.2(ACD):c.-7C>T rs999681254
NM_001082486.2(ACD):c.-8C>G rs766360608
NM_001082486.2(ACD):c.-9G>A rs377247506
NM_001082486.2(ACD):c.-9G>C rs377247506
NM_001082486.2(ACD):c.-9G>T rs377247506
NM_001082486.2(ACD):c.1001G>C (p.Ser334Thr)
NM_001082486.2(ACD):c.1002C>G (p.Ser334Arg) rs372195324
NM_001082486.2(ACD):c.1003C>T (p.Arg335Cys) rs762262197
NM_001082486.2(ACD):c.1007C>A (p.Thr336Asn)
NM_001082486.2(ACD):c.1008C>T (p.Thr336=) rs2543599048
NM_001082486.2(ACD):c.1009C>A (p.Pro337Thr) rs2543599039
NM_001082486.2(ACD):c.1009C>T (p.Pro337Ser) rs2543599039
NM_001082486.2(ACD):c.1011C>A (p.Pro337=) rs2543599020
NM_001082486.2(ACD):c.1011C>T (p.Pro337=) rs2543599020
NM_001082486.2(ACD):c.1013G>C (p.Ser338Thr) rs368783801
NM_001082486.2(ACD):c.1014C>A (p.Ser338Arg)
NM_001082486.2(ACD):c.1019C>G (p.Pro340Arg)
NM_001082486.2(ACD):c.1019C>T (p.Pro340Leu) rs2142968039
NM_001082486.2(ACD):c.1020A>T (p.Pro340=) rs2543598975
NM_001082486.2(ACD):c.1025A>G (p.Gln342Arg) rs1567640107
NM_001082486.2(ACD):c.1026G>A (p.Gln342=) rs2052913398
NM_001082486.2(ACD):c.1034C>T (p.Thr345Ile)
NM_001082486.2(ACD):c.1035T>C (p.Thr345=) rs770464499
NM_001082486.2(ACD):c.1036C>T (p.Pro346Ser)
NM_001082486.2(ACD):c.1037C>G (p.Pro346Arg)
NM_001082486.2(ACD):c.1037C>T (p.Pro346Leu) rs2543598909
NM_001082486.2(ACD):c.1041T>C (p.Ser347=) rs2543598879
NM_001082486.2(ACD):c.1042C>T (p.Leu348Phe) rs2543598873
NM_001082486.2(ACD):c.1044C>G (p.Leu348=) rs201447131
NM_001082486.2(ACD):c.1044C>T (p.Leu348=) rs201447131
NM_001082486.2(ACD):c.1048C>T (p.Pro350Ser) rs748114171
NM_001082486.2(ACD):c.104T>C (p.Leu35Pro) rs2543610764
NM_001082486.2(ACD):c.1050C>G (p.Pro350=) rs1432338895
NM_001082486.2(ACD):c.1050C>T (p.Pro350=)
NM_001082486.2(ACD):c.1057C>G (p.His353Asp) rs781528431
NM_001082486.2(ACD):c.1057C>T (p.His353Tyr) rs781528431
NM_001082486.2(ACD):c.1059T>C (p.His353=) rs2543598762
NM_001082486.2(ACD):c.105A>G (p.Leu35=) rs1597774075
NM_001082486.2(ACD):c.1061T>C (p.Val354Ala) rs2543598758
NM_001082486.2(ACD):c.1063C>A (p.Pro355Thr) rs757414908
NM_001082486.2(ACD):c.1065C>T (p.Pro355=) rs2052912065
NM_001082486.2(ACD):c.1071A>G (p.Pro357=) rs1028902904
NM_001082486.2(ACD):c.1073A>G (p.His358Arg) rs2543598718
NM_001082486.2(ACD):c.1074C>A (p.His358Gln) rs752017845
NM_001082486.2(ACD):c.1075C>G (p.Gln359Glu) rs1311933383
NM_001082486.2(ACD):c.1077G>A (p.Gln359=) rs200526158
NM_001082486.2(ACD):c.1079C>T (p.Ala360Val) rs2543598685
NM_001082486.2(ACD):c.107A>G (p.Gln36Arg) rs146699133
NM_001082486.2(ACD):c.1082T>C (p.Leu361Pro) rs2543598668
NM_001082486.2(ACD):c.1084G>A (p.Val362Met)
NM_001082486.2(ACD):c.1089C>G (p.Thr363=) rs1414641852
NM_001082486.2(ACD):c.108G>C (p.Gln36His) rs2543610744
NM_001082486.2(ACD):c.1090A>G (p.Arg364Gly)
NM_001082486.2(ACD):c.1092G>A (p.Arg364=) rs1308671888
NM_001082486.2(ACD):c.1094C>T (p.Pro365Leu) rs1444628761
NM_001082486.2(ACD):c.1097A>G (p.Gln366Arg) rs2543598625
NM_001082486.2(ACD):c.1099A>C (p.Lys367Gln)
NM_001082486.2(ACD):c.1104T>C (p.Pro368=) rs2543598602
NM_001082486.2(ACD):c.1107C>T (p.Ser369=) rs138584103
NM_001082486.2(ACD):c.1111G>A (p.Glu371Lys) rs2543598584
NM_001082486.2(ACD):c.1112A>T (p.Glu371Val) rs775969589
NM_001082486.2(ACD):c.1121A>T (p.Glu374Val) rs2543598542
NM_001082486.2(ACD):c.1122G>A (p.Glu374=) rs2052910757
NM_001082486.2(ACD):c.1124T>A (p.Phe375Tyr)
NM_001082486.2(ACD):c.1126G>C (p.Val376Leu)
NM_001082486.2(ACD):c.1127T>C (p.Val376Ala) rs2543598505
NM_001082486.2(ACD):c.112G>T (p.Ala38Ser) rs2543610728
NM_001082486.2(ACD):c.1131G>A (p.Gly377=) rs1483135274
NM_001082486.2(ACD):c.1131G>C (p.Gly377=) rs1483135274
NM_001082486.2(ACD):c.1137C>T (p.Pro379=) rs2543598457
NM_001082486.2(ACD):c.1140C>G (p.Cys380Trp)
NM_001082486.2(ACD):c.1147C>G (p.Arg383Gly) rs747913250
NM_001082486.2(ACD):c.114C>T (p.Ala38=) rs756189227
NM_001082486.2(ACD):c.1154C>T (p.Pro385Leu) rs751734599
NM_001082486.2(ACD):c.115G>A (p.Glu39Lys) rs2543610714
NM_001082486.2(ACD):c.1161C>T (p.Pro387=) rs2543598314
NM_001082486.2(ACD):c.1165A>G (p.Thr389Ala) rs2543598276
NM_001082486.2(ACD):c.1169G>A (p.Gly390Glu) rs1420989941
NM_001082486.2(ACD):c.1172C>T (p.Ala391Val) rs1363810231
NM_001082486.2(ACD):c.1180G>A (p.Gly394Arg)
NM_001082486.2(ACD):c.1185C>T (p.Ala395=) rs2052908612
NM_001082486.2(ACD):c.1186C>G (p.Gln396Glu)
NM_001082486.2(ACD):c.1187A>G (p.Gln396Arg)
NM_001082486.2(ACD):c.1191G>T (p.Glu397Asp) rs2052908283
NM_001082486.2(ACD):c.1194C>G (p.Pro398=) rs2543598067
NM_001082486.2(ACD):c.1196G>T (p.Cys399Phe) rs2543598058
NM_001082486.2(ACD):c.1197C>T (p.Cys399=) rs985331309
NM_001082486.2(ACD):c.1199C>G (p.Ser400Cys) rs772771047
NM_001082486.2(ACD):c.1199C>T (p.Ser400Phe) rs772771047
NM_001082486.2(ACD):c.1204T>G (p.Trp402Gly) rs2543598015
NM_001082486.2(ACD):c.1209A>G (p.Glu403=) rs2052902337
NM_001082486.2(ACD):c.1211C>T (p.Pro404Leu) rs201907421
NM_001082486.2(ACD):c.1228G>A (p.Asp410Asn)
NM_001082486.2(ACD):c.1231G>A (p.Gly411Ser) rs2052901393
NM_001082486.2(ACD):c.1232G>T (p.Gly411Val) rs2543597041
NM_001082486.2(ACD):c.1233T>C (p.Gly411=) rs2052901324
NM_001082486.2(ACD):c.1237G>A (p.Ala413Thr) rs779041176
NM_001082486.2(ACD):c.1239C>T (p.Ala413=) rs755330502
NM_001082486.2(ACD):c.123G>A (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.123G>C (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.123G>T (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.1246T>C (p.Tyr416His) rs780478139
NM_001082486.2(ACD):c.1253A>G (p.Tyr418Cys)
NM_001082486.2(ACD):c.1254T>C (p.Tyr418=)
NM_001082486.2(ACD):c.1257G>A (p.Glu419=) rs2543596880
NM_001082486.2(ACD):c.1259C>G (p.Pro420Arg) rs750023370
NM_001082486.2(ACD):c.1259C>T (p.Pro420Leu) rs750023370
NM_001082486.2(ACD):c.1260A>G (p.Pro420=) rs2543596843
NM_001082486.2(ACD):c.1262C>A (p.Pro421His) rs149418249
NM_001082486.2(ACD):c.1263C>T (p.Pro421=)
NM_001082486.2(ACD):c.1264T>C (p.Cys422Arg) rs2543596794
NM_001082486.2(ACD):c.1266C>G (p.Cys422Trp) rs990151870
NM_001082486.2(ACD):c.126C>G (p.Val42=) rs2543610641
NM_001082486.2(ACD):c.126C>T (p.Val42=) rs2543610641
NM_001082486.2(ACD):c.1273C>G (p.Leu425Val) rs2543596736
NM_001082486.2(ACD):c.1273C>T (p.Leu425Phe) rs2543596736
NM_001082486.2(ACD):c.1275C>T (p.Leu425=) rs2543596712
NM_001082486.2(ACD):c.1277G>A (p.Cys426Tyr) rs1445369071
NM_001082486.2(ACD):c.1277G>C (p.Cys426Ser) rs1445369071
NM_001082486.2(ACD):c.1280C>T (p.Ala427Val) rs936069041
NM_001082486.2(ACD):c.1281T>C (p.Ala427=) rs762704565
NM_001082486.2(ACD):c.1282C>G (p.Arg428Gly)
NM_001082486.2(ACD):c.1284G>T (p.Arg428=) rs2543596653
NM_001082486.2(ACD):c.1287C>T (p.Val429=) rs2543596633
NM_001082486.2(ACD):c.128C>G (p.Ala43Gly) rs752683720
NM_001082486.2(ACD):c.128C>T (p.Ala43Val) rs752683720
NM_001082486.2(ACD):c.1292C>G (p.Ala431Gly)
NM_001082486.2(ACD):c.1292C>T (p.Ala431Val) rs2543596599
NM_001082486.2(ACD):c.1294G>A (p.Val432Ile)
NM_001082486.2(ACD):c.1294G>T (p.Val432Phe) rs2543596580
NM_001082486.2(ACD):c.1297A>T (p.Arg433Trp) rs1407657316
NM_001082486.2(ACD):c.1299G>A (p.Arg433=) rs756845439
NM_001082486.2(ACD):c.1299G>T (p.Arg433Ser) rs756845439
NM_001082486.2(ACD):c.129G>C (p.Ala43=) rs2052972012
NM_001082486.2(ACD):c.129G>T (p.Ala43=) rs2052972012
NM_001082486.2(ACD):c.12G>T (p.Ser4=) rs2543611699
NM_001082486.2(ACD):c.1307C>T (p.Pro436Leu) rs2543595938
NM_001082486.2(ACD):c.1308C>T (p.Pro436=) rs777330256
NM_001082486.2(ACD):c.1310A>G (p.Gln437Arg) rs1367801477
NM_001082486.2(ACD):c.1313T>A (p.Leu438His) rs2543595883
NM_001082486.2(ACD):c.1315A>G (p.Met439Val) rs2543595871
NM_001082486.2(ACD):c.1318G>A (p.Ala440Thr) rs2543595859
NM_001082486.2(ACD):c.1319C>T (p.Ala440Val)
NM_001082486.2(ACD):c.1320C>A (p.Ala440=)
NM_001082486.2(ACD):c.132C>G (p.Gly44=) rs138527794
NM_001082486.2(ACD):c.1330C>A (p.His444Asn) rs2543595803
NM_001082486.2(ACD):c.1330C>T (p.His444Tyr) rs2543595803
NM_001082486.2(ACD):c.1331A>C (p.His444Pro) rs1215364797
NM_001082486.2(ACD):c.1331A>G (p.His444Arg) rs1215364797
NM_001082486.2(ACD):c.1332C>T (p.His444=) rs2543595787
NM_001082486.2(ACD):c.1333T>C (p.Phe445Leu) rs1388068695
NM_001082486.2(ACD):c.1338G>C (p.Leu446=)
NM_001082486.2(ACD):c.1339A>T (p.Met447Leu) rs1567639267
NM_001082486.2(ACD):c.1340T>C (p.Met447Thr) rs2543595743
NM_001082486.2(ACD):c.1343A>C (p.Asp448Ala) rs2543595729
NM_001082486.2(ACD):c.1344T>C (p.Asp448=) rs2052895169
NM_001082486.2(ACD):c.1346C>T (p.Ala449Val)
NM_001082486.2(ACD):c.1347A>C (p.Ala449=) rs2543595694
NM_001082486.2(ACD):c.1351C>T (p.Pro451Ser) rs2543595671
NM_001082486.2(ACD):c.1355G>A (p.Gly452Glu) rs2052894796
NM_001082486.2(ACD):c.1355G>T (p.Gly452Val) rs2052894796
NM_001082486.2(ACD):c.1356G>A (p.Gly452=) rs2052894726
NM_001082486.2(ACD):c.1357T>G (p.Ser453Ala) rs2543595645
NM_001082486.2(ACD):c.135A>G (p.Pro45=) rs2543610580
NM_001082486.2(ACD):c.1361A>T (p.Glu454Val) rs2543595631
NM_001082486.2(ACD):c.1364_1367del (p.Pro455fs) rs772312742
NM_001082486.2(ACD):c.1367C>T (p.Thr456Ile) rs2142965555
NM_001082486.2(ACD):c.136T>A (p.Ser46Thr) rs2543610573
NM_001082486.2(ACD):c.1370C>G (p.Pro457Arg) rs150387011
NM_001082486.2(ACD):c.1371G>A (p.Pro457=) rs14920
NM_001082486.2(ACD):c.1372A>G (p.Met458Val) rs2543595535
NM_001082486.2(ACD):c.1373T>C (p.Met458Thr) rs1320429671
NM_001082486.2(ACD):c.138C>T (p.Ser46=)
NM_001082486.2(ACD):c.139C>G (p.His47Asp) rs1057522813
NM_001082486.2(ACD):c.13G>A (p.Gly5Arg) rs2543611694
NM_001082486.2(ACD):c.140A>C (p.His47Pro) rs1235862680
NM_001082486.2(ACD):c.144C>G (p.Ala48=) rs2142975451
NM_001082486.2(ACD):c.145C>T (p.Pro49Ser) rs1597773937
NM_001082486.2(ACD):c.150T>C (p.Asp50=) rs1464066074
NM_001082486.2(ACD):c.152C>T (p.Thr51Met) rs2543610484
NM_001082486.2(ACD):c.153G>A (p.Thr51=) rs2543610478
NM_001082486.2(ACD):c.153G>T (p.Thr51=) rs2543610478
NM_001082486.2(ACD):c.160G>T (p.Val54Phe)
NM_001082486.2(ACD):c.162C>G (p.Val54=) rs371791290
NM_001082486.2(ACD):c.165G>T (p.Gly55=) rs2543610408
NM_001082486.2(ACD):c.166G>T (p.Ala56Ser) rs767844152
NM_001082486.2(ACD):c.170C>T (p.Thr57Met) rs1383980242
NM_001082486.2(ACD):c.171G>C (p.Thr57=) rs1385639545
NM_001082486.2(ACD):c.174G>A (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.175C>G (p.Leu59Val) rs368387402
NM_001082486.2(ACD):c.177T>G (p.Leu59=) rs2543610326
NM_001082486.2(ACD):c.178G>T (p.Val60Leu)
NM_001082486.2(ACD):c.17G>A (p.Arg6Lys) rs2543611678
NM_001082486.2(ACD):c.180G>A (p.Val60=) rs1329348299
NM_001082486.2(ACD):c.180G>C (p.Val60=) rs1329348299
NM_001082486.2(ACD):c.186C>G (p.Asp62Glu) rs998982026
NM_001082486.2(ACD):c.187G>A (p.Gly63Arg) rs769728392
NM_001082486.2(ACD):c.18G>A (p.Arg6=) rs779383442
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.196A>G (p.Ser66Gly) rs2543610197
NM_001082486.2(ACD):c.198T>C (p.Ser66=) rs968504696
NM_001082486.2(ACD):c.198T>G (p.Ser66Arg) rs968504696
NM_001082486.2(ACD):c.19C>T (p.Leu7=) rs2543611657
NM_001082486.2(ACD):c.201C>T (p.Val67=) rs1428575354
NM_001082486.2(ACD):c.203G>T (p.Arg68Leu) rs2543610163
NM_001082486.2(ACD):c.206G>C (p.Cys69Ser) rs748312961
NM_001082486.2(ACD):c.207C>G (p.Cys69Trp) rs2543610147
NM_001082486.2(ACD):c.207C>T (p.Cys69=) rs2543610147
NM_001082486.2(ACD):c.208C>G (p.Leu70Val)
NM_001082486.2(ACD):c.211G>C (p.Val71Leu)
NM_001082486.2(ACD):c.214A>T (p.Thr72Ser)
NM_001082486.2(ACD):c.217C>T (p.Arg73Trp) rs2543610119
NM_001082486.2(ACD):c.222G>A (p.Glu74=) rs2543610083
NM_001082486.2(ACD):c.223G>T (p.Ala75Ser) rs2543610078
NM_001082486.2(ACD):c.225C>A (p.Ala75=) rs2543610064
NM_001082486.2(ACD):c.226C>T (p.Leu76=) rs1223677195
NM_001082486.2(ACD):c.227T>A (p.Leu76Gln) rs2543610041
NM_001082486.2(ACD):c.227T>C (p.Leu76Pro) rs2543610041
NM_001082486.2(ACD):c.228G>A (p.Leu76=) rs2543610025
NM_001082486.2(ACD):c.229G>A (p.Asp77Asn) rs2543610018
NM_001082486.2(ACD):c.233C>A (p.Thr78Asn) rs375257354
NM_001082486.2(ACD):c.233C>G (p.Thr78Ser) rs375257354
NM_001082486.2(ACD):c.233C>T (p.Thr78Ile) rs375257354
NM_001082486.2(ACD):c.234C>T (p.Thr78=) rs2543609994
NM_001082486.2(ACD):c.237G>C (p.Ser79=) rs1268610570
NM_001082486.2(ACD):c.24C>T (p.Val8=) rs1433309636
NM_001082486.2(ACD):c.250A>C (p.Lys84Gln) rs2543609295
NM_001082486.2(ACD):c.265C>T (p.Arg89Cys) rs2543609231
NM_001082486.2(ACD):c.267C>G (p.Arg89=) rs752200943
NM_001082486.2(ACD):c.267C>T (p.Arg89=) rs752200943
NM_001082486.2(ACD):c.270G>T (p.Gly90=) rs1597773324
NM_001082486.2(ACD):c.273A>C (p.Thr91=)
NM_001082486.2(ACD):c.273A>G (p.Thr91=) rs2543609171
NM_001082486.2(ACD):c.27A>G (p.Leu9=)
NM_001082486.2(ACD):c.281G>A (p.Arg94Gln) rs2543609146
NM_001082486.2(ACD):c.281G>T (p.Arg94Leu)
NM_001082486.2(ACD):c.288G>A (p.Leu96=)
NM_001082486.2(ACD):c.288G>C (p.Leu96=)
NM_001082486.2(ACD):c.289C>G (p.Leu97Val) rs530732740
NM_001082486.2(ACD):c.289C>T (p.Leu97=) rs530732740
NM_001082486.2(ACD):c.28C>T (p.Arg10Trp) rs775787415
NM_001082486.2(ACD):c.294G>A (p.Leu98=) rs2543609072
NM_001082486.2(ACD):c.294G>T (p.Leu98=) rs2543609072
NM_001082486.2(ACD):c.29G>A (p.Arg10Gln)
NM_001082486.2(ACD):c.2T>C (p.Met1Thr) rs2543611764
NM_001082486.2(ACD):c.302G>A (p.Cys101Tyr)
NM_001082486.2(ACD):c.302G>T (p.Cys101Phe) rs929345358
NM_001082486.2(ACD):c.303C>T (p.Cys101=) rs2142974629
NM_001082486.2(ACD):c.305G>A (p.Gly102Glu)
NM_001082486.2(ACD):c.306G>A (p.Gly102=) rs1470698882
NM_001082486.2(ACD):c.306G>C (p.Gly102=) rs1470698882
NM_001082486.2(ACD):c.306G>T (p.Gly102=)
NM_001082486.2(ACD):c.308T>C (p.Val103Ala) rs1597773252
NM_001082486.2(ACD):c.315C>G (p.Val105=) rs2543608950
NM_001082486.2(ACD):c.318G>A (p.Gln106=) rs2543608929
NM_001082486.2(ACD):c.322G>A (p.Ala108Thr) rs2543608914
NM_001082486.2(ACD):c.322G>T (p.Ala108Ser) rs2543608914
NM_001082486.2(ACD):c.324T>A (p.Ala108=) rs2543608903
NM_001082486.2(ACD):c.327G>C (p.Glu109Asp) rs2543608894
NM_001082486.2(ACD):c.328G>A (p.Gly110Ser)
NM_001082486.2(ACD):c.328G>C (p.Gly110Arg)
NM_001082486.2(ACD):c.329G>A (p.Gly110Asp) rs1243751913
NM_001082486.2(ACD):c.32C>T (p.Pro11Leu) rs770184750
NM_001082486.2(ACD):c.337C>T (p.Pro113Ser) rs1597773035
NM_001082486.2(ACD):c.339C>G (p.Pro113=) rs1322815478
NM_001082486.2(ACD):c.33C>A (p.Pro11=) rs1488184674
NM_001082486.2(ACD):c.33C>T (p.Pro11=) rs1488184674
NM_001082486.2(ACD):c.340G>C (p.Ala114Pro) rs377701284
NM_001082486.2(ACD):c.340G>T (p.Ala114Ser) rs377701284
NM_001082486.2(ACD):c.341C>T (p.Ala114Val) rs2052958592
NM_001082486.2(ACD):c.343G>A (p.Glu115Lys) rs141113896
NM_001082486.2(ACD):c.352C>G (p.Leu118Val)
NM_001082486.2(ACD):c.352C>T (p.Leu118Phe) rs769774717
NM_001082486.2(ACD):c.353T>A (p.Leu118His) rs2543608150
NM_001082486.2(ACD):c.354C>G (p.Leu118=) rs745891027
NM_001082486.2(ACD):c.361G>A (p.Asp121Asn) rs771131495
NM_001082486.2(ACD):c.363C>T (p.Asp121=) rs2543608088
NM_001082486.2(ACD):c.365G>C (p.Arg122Pro)
NM_001082486.2(ACD):c.365G>T (p.Arg122Leu) rs778255734
NM_001082486.2(ACD):c.372C>T (p.Ser124=) rs2543608037
NM_001082486.2(ACD):c.373C>G (p.Leu125Val) rs2052957597
NM_001082486.2(ACD):c.378G>T (p.Leu126=) rs2543608006
NM_001082486.2(ACD):c.379C>T (p.Pro127Ser)
NM_001082486.2(ACD):c.380C>T (p.Pro127Leu) rs1408312026
NM_001082486.2(ACD):c.381C>T (p.Pro127=)
NM_001082486.2(ACD):c.382A>C (p.Thr128Pro) rs748654119
NM_001082486.2(ACD):c.383C>T (p.Thr128Met) rs2543607977
NM_001082486.2(ACD):c.384G>A (p.Thr128=) rs2543607963
NM_001082486.2(ACD):c.384G>C (p.Thr128=)
NM_001082486.2(ACD):c.394C>A (p.Arg132=) rs2052957232
NM_001082486.2(ACD):c.399A>C (p.Leu133=) rs1284661426
NM_001082486.2(ACD):c.401G>C (p.Arg134Pro)
NM_001082486.2(ACD):c.405G>A (p.Val135=) rs755769548
NM_001082486.2(ACD):c.405G>T (p.Val135=)
NM_001082486.2(ACD):c.407C>T (p.Pro136Leu) rs2543607819
NM_001082486.2(ACD):c.409G>A (p.Gly137Ser)
NM_001082486.2(ACD):c.40C>A (p.Arg14=) rs1235168823
NM_001082486.2(ACD):c.415A>T (p.Asn139Tyr) rs2052951812
NM_001082486.2(ACD):c.417C>T (p.Asn139=)
NM_001082486.2(ACD):c.421G>C (p.Asp141His) rs2543606889
NM_001082486.2(ACD):c.427G>A (p.Asp143Asn) rs1257437432
NM_001082486.2(ACD):c.428A>G (p.Asp143Gly) rs2543606864
NM_001082486.2(ACD):c.430G>A (p.Val144Ile) rs1380577187
NM_001082486.2(ACD):c.432T>C (p.Val144=) rs2543606844
NM_001082486.2(ACD):c.435G>C (p.Gln145His)
NM_001082486.2(ACD):c.438A>G (p.Lys146=) rs753936561
NM_001082486.2(ACD):c.43G>C (p.Glu15Gln) rs2142976000
NM_001082486.2(ACD):c.444C>G (p.Leu148=) rs151132164
NM_001082486.2(ACD):c.446A>C (p.Tyr149Ser) rs200909340
NM_001082486.2(ACD):c.448G>T (p.Asp150Tyr) rs915716446
NM_001082486.2(ACD):c.450C>T (p.Asp150=) rs2052950822
NM_001082486.2(ACD):c.452G>A (p.Cys151Tyr) rs1310303692
NM_001082486.2(ACD):c.452G>T (p.Cys151Phe) rs1310303692
NM_001082486.2(ACD):c.453C>T (p.Cys151=) rs2543606725
NM_001082486.2(ACD):c.454C>T (p.Leu152Phe) rs2543606711
NM_001082486.2(ACD):c.459G>A (p.Glu153=) rs763160982
NM_001082486.2(ACD):c.45G>A (p.Glu15=) rs2543611526
NM_001082486.2(ACD):c.465C>T (p.His155=) rs142115585
NM_001082486.2(ACD):c.474G>A (p.Glu158=) rs1373169889
NM_001082486.2(ACD):c.475T>C (p.Ser159Pro) rs2543605478
NM_001082486.2(ACD):c.476C>A (p.Ser159Tyr)
NM_001082486.2(ACD):c.476C>T (p.Ser159Phe) rs1292315289
NM_001082486.2(ACD):c.477C>T (p.Ser159=) rs2543605445
NM_001082486.2(ACD):c.481T>A (p.Ser161Thr) rs1338842935
NM_001082486.2(ACD):c.485C>T (p.Ser162Phe) rs2543605380
NM_001082486.2(ACD):c.48G>T (p.Leu16=)
NM_001082486.2(ACD):c.490G>T (p.Ala164Ser)
NM_001082486.2(ACD):c.495C>T (p.Gly165=) rs2052939582
NM_001082486.2(ACD):c.498A>G (p.Leu166=) rs2052939456
NM_001082486.2(ACD):c.498A>T (p.Leu166=)
NM_001082486.2(ACD):c.501A>G (p.Ser167=) rs2052939338
NM_001082486.2(ACD):c.502C>T (p.Leu168=) rs2543604062
NM_001082486.2(ACD):c.507C>T (p.Ser169=) rs2543604039
NM_001082486.2(ACD):c.510G>A (p.Gln170=) rs2543604024
NM_001082486.2(ACD):c.514C>T (p.Leu172=) rs1597771527
NM_001082486.2(ACD):c.516G>C (p.Leu172=) rs2543603992
NM_001082486.2(ACD):c.51T>C (p.Ile17=) rs2543611505
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.52C>T (p.Leu18=) rs746541344
NM_001082486.2(ACD):c.531G>A (p.Glu177=)
NM_001082486.2(ACD):c.534C>G (p.Asp178Glu)
NM_001082486.2(ACD):c.534C>T (p.Asp178=)
NM_001082486.2(ACD):c.536A>G (p.Gln179Arg) rs754351563
NM_001082486.2(ACD):c.543T>G (p.His181Gln)
NM_001082486.2(ACD):c.548G>T (p.Gly183Val) rs2543603809
NM_001082486.2(ACD):c.549G>A (p.Gly183=)
NM_001082486.2(ACD):c.54G>A (p.Leu18=)
NM_001082486.2(ACD):c.550G>A (p.Ala184Thr) rs2543603786
NM_001082486.2(ACD):c.550G>T (p.Ala184Ser)
NM_001082486.2(ACD):c.552A>G (p.Ala184=)
NM_001082486.2(ACD):c.555C>T (p.Leu185=) rs745443998
NM_001082486.2(ACD):c.556G>C (p.Val186Leu) rs780989111
NM_001082486.2(ACD):c.558G>A (p.Val186=) rs2543603723
NM_001082486.2(ACD):c.560G>C (p.Cys187Ser) rs2543603702
NM_001082486.2(ACD):c.561C>T (p.Cys187=) rs2543603692
NM_001082486.2(ACD):c.570A>G (p.Glu190=) rs2543603676
NM_001082486.2(ACD):c.575G>T (p.Cys192Phe)
NM_001082486.2(ACD):c.579G>A (p.Leu193=)
NM_001082486.2(ACD):c.579G>C (p.Leu193=) rs937840429
NM_001082486.2(ACD):c.57G>T (p.Gly19=) rs2543611466
NM_001082486.2(ACD):c.583C>A (p.Leu195Met) rs2142971297
NM_001082486.2(ACD):c.588G>A (p.Glu196=) rs749050643
NM_001082486.2(ACD):c.58T>C (p.Ser20Pro) rs2543611458
NM_001082486.2(ACD):c.591C>A (p.Gly197=) rs376086019
NM_001082486.2(ACD):c.5C>T (p.Ala2Val) rs1349871606
NM_001082486.2(ACD):c.605C>A (p.Pro202His) rs1238004090
NM_001082486.2(ACD):c.607C>G (p.Pro203Ala) rs758700674
NM_001082486.2(ACD):c.611T>A (p.Val204Asp) rs2543603390
NM_001082486.2(ACD):c.612C>T (p.Val204=) rs2543603384
NM_001082486.2(ACD):c.618C>A (p.His206Gln)
NM_001082486.2(ACD):c.618C>T (p.His206=) rs754155392
NM_001082486.2(ACD):c.623C>A (p.Ala208Asp) rs2543603321
NM_001082486.2(ACD):c.623C>G (p.Ala208Gly)
NM_001082486.2(ACD):c.625G>C (p.Ala209Pro) rs1443234203
NM_001082486.2(ACD):c.626C>T (p.Ala209Val) rs1308347829
NM_001082486.2(ACD):c.628T>A (p.Ser210Thr)
NM_001082486.2(ACD):c.628T>C (p.Ser210Pro)
NM_001082486.2(ACD):c.63G>A (p.Glu21=)
NM_001082486.2(ACD):c.643A>T (p.Thr215Ser) rs2543603188
NM_001082486.2(ACD):c.644C>G (p.Thr215Arg) rs72547495
NM_001082486.2(ACD):c.650A>C (p.Glu217Ala) rs2052932324
NM_001082486.2(ACD):c.651A>C (p.Glu217Asp) rs2543602600
NM_001082486.2(ACD):c.653C>T (p.Ala218Val) rs1191670402
NM_001082486.2(ACD):c.656T>C (p.Val219Ala) rs2543602574
NM_001082486.2(ACD):c.660C>T (p.Tyr220=)
NM_001082486.2(ACD):c.661A>C (p.Thr221Pro) rs2543602563
NM_001082486.2(ACD):c.662C>G (p.Thr221Ser)
NM_001082486.2(ACD):c.662C>T (p.Thr221Ile) rs548837823
NM_001082486.2(ACD):c.663T>A (p.Thr221=) rs762686520
NM_001082486.2(ACD):c.663T>C (p.Thr221=)
NM_001082486.2(ACD):c.669C>T (p.Pro223=) rs2142970590
NM_001082486.2(ACD):c.670A>C (p.Ser224Arg) rs2543602500
NM_001082486.2(ACD):c.671G>A (p.Ser224Asn) rs2543602489
NM_001082486.2(ACD):c.671G>C (p.Ser224Thr) rs2543602489
NM_001082486.2(ACD):c.676A>G (p.Met226Val) rs1297777290
NM_001082486.2(ACD):c.681G>A (p.Leu227=)
NM_001082486.2(ACD):c.684C>T (p.Cys228=) rs947250700
NM_001082486.2(ACD):c.685A>C (p.Ile229Leu) rs1567640930
NM_001082486.2(ACD):c.685A>G (p.Ile229Val) rs1567640930
NM_001082486.2(ACD):c.689C>T (p.Ser230Phe) rs752793753
NM_001082486.2(ACD):c.68C>T (p.Pro23Leu) rs2052976709
NM_001082486.2(ACD):c.691G>C (p.Glu231Gln)
NM_001082486.2(ACD):c.699C>T (p.Asp233=) rs781596966
NM_001082486.2(ACD):c.69C>G (p.Pro23=)
NM_001082486.2(ACD):c.6A>G (p.Ala2=) rs1301817552
NM_001082486.2(ACD):c.709C>G (p.Leu237Val) rs2543602280
NM_001082486.2(ACD):c.70T>A (p.Ser24Thr)
NM_001082486.2(ACD):c.711G>C (p.Leu237=) rs1212715141
NM_001082486.2(ACD):c.713G>A (p.Ser238Asn) rs2543602242
NM_001082486.2(ACD):c.714C>T (p.Ser238=) rs2543602238
NM_001082486.2(ACD):c.718C>T (p.Leu240=) rs1306566304
NM_001082486.2(ACD):c.727T>C (p.Cys243Arg) rs1400041152
NM_001082486.2(ACD):c.728G>A (p.Cys243Tyr)
NM_001082486.2(ACD):c.731A>G (p.Gln244Arg) rs2543602125
NM_001082486.2(ACD):c.734G>A (p.Arg245Lys) rs1048865744
NM_001082486.2(ACD):c.739C>A (p.Gln247Lys) rs1597770431
NM_001082486.2(ACD):c.73A>G (p.Ser25Gly)
NM_001082486.2(ACD):c.744C>T (p.Gly248=)
NM_001082486.2(ACD):c.746C>G (p.Pro249Arg)
NM_001082486.2(ACD):c.749A>G (p.Glu250Gly) rs2543601597
NM_001082486.2(ACD):c.750G>C (p.Glu250Asp) rs2543601589
NM_001082486.2(ACD):c.753G>A (p.Leu251=) rs2052926934
NM_001082486.2(ACD):c.756C>T (p.Pro252=) rs2543601528
NM_001082486.2(ACD):c.758C>A (p.Pro253Gln) rs752205833
NM_001082486.2(ACD):c.759A>G (p.Pro253=) rs1264207514
NM_001082486.2(ACD):c.760C>A (p.Pro254Thr)
NM_001082486.2(ACD):c.763G>C (p.Asp255His)
NM_001082486.2(ACD):c.763G>T (p.Asp255Tyr)
NM_001082486.2(ACD):c.765C>G (p.Asp255Glu)
NM_001082486.2(ACD):c.770C>T (p.Ala257Val)
NM_001082486.2(ACD):c.774G>A (p.Leu258=) rs1401652244
NM_001082486.2(ACD):c.777G>A (p.Gln259=) rs2543601345
NM_001082486.2(ACD):c.780C>T (p.Asp260=) rs1254941141
NM_001082486.2(ACD):c.781C>T (p.Leu261=) rs760404492
NM_001082486.2(ACD):c.783A>G (p.Leu261=)
NM_001082486.2(ACD):c.789G>C (p.Leu263=) rs2543601288
NM_001082486.2(ACD):c.790A>C (p.Thr264Pro) rs750368038
NM_001082486.2(ACD):c.791C>T (p.Thr264Ile) rs1293649438
NM_001082486.2(ACD):c.792C>T (p.Thr264=) rs2052925790
NM_001082486.2(ACD):c.796A>G (p.Ile266Val) rs1567640633
NM_001082486.2(ACD):c.797T>A (p.Ile266Lys) rs762991329
NM_001082486.2(ACD):c.797T>C (p.Ile266Thr)
NM_001082486.2(ACD):c.7G>C (p.Gly3Arg)
NM_001082486.2(ACD):c.800C>T (p.Ala267Val) rs2543601195
NM_001082486.2(ACD):c.801C>G (p.Ala267=) rs72549181
NM_001082486.2(ACD):c.803C>G (p.Ser268Cys) rs2543601165
NM_001082486.2(ACD):c.807T>G (p.Pro269=) rs759789773
NM_001082486.2(ACD):c.808C>A (p.Pro270Thr) rs776932197
NM_001082486.2(ACD):c.808C>T (p.Pro270Ser) rs776932197
NM_001082486.2(ACD):c.811T>A (p.Ser271Thr) rs2543601091
NM_001082486.2(ACD):c.813C>T (p.Ser271=) rs878924464
NM_001082486.2(ACD):c.816A>T (p.Ser272=) rs1597769834
NM_001082486.2(ACD):c.822T>G (p.Ser274Arg) rs2543601029
NM_001082486.2(ACD):c.825C>A (p.Ser275=)
NM_001082486.2(ACD):c.825C>G (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.825C>T (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.82G>A (p.Ala28Thr) rs866991452
NM_001082486.2(ACD):c.833C>T (p.Thr278Ile) rs2052918579
NM_001082486.2(ACD):c.834C>T (p.Thr278=)
NM_001082486.2(ACD):c.835C>G (p.Pro279Ala) rs2543599863
NM_001082486.2(ACD):c.843A>T (p.Leu281Phe) rs2543599837
NM_001082486.2(ACD):c.84C>T (p.Ala28=)
NM_001082486.2(ACD):c.851A>G (p.His284Arg) rs2543599795
NM_001082486.2(ACD):c.856T>C (p.Ser286Pro) rs2543599777
NM_001082486.2(ACD):c.857C>T (p.Ser286Leu) rs2052917888
NM_001082486.2(ACD):c.85G>A (p.Gly29Arg) rs754815475
NM_001082486.2(ACD):c.863A>G (p.Glu288Gly) rs2543599737
NM_001082486.2(ACD):c.864G>A (p.Glu288=) rs2543599728
NM_001082486.2(ACD):c.865G>C (p.Glu289Gln) rs2543599720
NM_001082486.2(ACD):c.868A>G (p.Ser290Gly) rs2142968732
NM_001082486.2(ACD):c.869G>A (p.Ser290Asn) rs755104697
NM_001082486.2(ACD):c.86G>A (p.Gly29Glu) rs2543611337
NM_001082486.2(ACD):c.875C>T (p.Thr292Ile) rs375173439
NM_001082486.2(ACD):c.87G>A (p.Gly29=) rs2543611333
NM_001082486.2(ACD):c.882C>T (p.Ile294=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=) rs1459307216
NM_001082486.2(ACD):c.893C>A (p.Pro298His)
NM_001082486.2(ACD):c.893C>T (p.Pro298Leu) rs2543599584
NM_001082486.2(ACD):c.894T>A (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.894T>C (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.898C>T (p.Leu300=)
NM_001082486.2(ACD):c.902C>A (p.Ser301Tyr) rs532542932
NM_001082486.2(ACD):c.902C>T (p.Ser301Phe)
NM_001082486.2(ACD):c.903C>G (p.Ser301=) rs1783907452
NM_001082486.2(ACD):c.904T>G (p.Leu302Val) rs2543599517
NM_001082486.2(ACD):c.907G>C (p.Ala303Pro) rs2543599502
NM_001082486.2(ACD):c.910G>A (p.Ala304Thr) rs2142968532
NM_001082486.2(ACD):c.911C>T (p.Ala304Val) rs2142968526
NM_001082486.2(ACD):c.913C>G (p.Pro305Ala)
NM_001082486.2(ACD):c.914C>T (p.Pro305Leu) rs2543599464
NM_001082486.2(ACD):c.920C>T (p.Pro307Leu) rs2543599454
NM_001082486.2(ACD):c.921A>G (p.Pro307=)
NM_001082486.2(ACD):c.924G>A (p.Gly308=) rs2543599430
NM_001082486.2(ACD):c.930A>G (p.Arg310=) rs2142968462
NM_001082486.2(ACD):c.932G>C (p.Ser311Thr)
NM_001082486.2(ACD):c.933C>A (p.Ser311Arg) rs2543599388
NM_001082486.2(ACD):c.933C>T (p.Ser311=) rs2543599388
NM_001082486.2(ACD):c.936C>G (p.Ser312Arg) rs1438891181
NM_001082486.2(ACD):c.93G>A (p.Leu31=)
NM_001082486.2(ACD):c.945C>T (p.Pro315=) rs745532404
NM_001082486.2(ACD):c.948A>G (p.Ser316=) rs2543599324
NM_001082486.2(ACD):c.94C>A (p.Leu32Ile) rs2543611285
NM_001082486.2(ACD):c.950C>A (p.Pro317Gln) rs1006777863
NM_001082486.2(ACD):c.966C>T (p.Ala322=) rs2142968290
NM_001082486.2(ACD):c.967C>T (p.Pro323Ser) rs2543599236
NM_001082486.2(ACD):c.968C>T (p.Pro323Leu)
NM_001082486.2(ACD):c.969T>G (p.Pro323=) rs2543599231
NM_001082486.2(ACD):c.974C>A (p.Thr325Asn) rs777812658
NM_001082486.2(ACD):c.974C>T (p.Thr325Ile) rs777812658
NM_001082486.2(ACD):c.975C>G (p.Thr325=)
NM_001082486.2(ACD):c.975C>T (p.Thr325=) rs2543599197
NM_001082486.2(ACD):c.980C>T (p.Thr327Ile) rs1300291520
NM_001082486.2(ACD):c.986G>T (p.Arg329Met) rs2052914821
NM_001082486.2(ACD):c.987G>A (p.Arg329=) rs368215405
NM_001082486.2(ACD):c.987G>C (p.Arg329Ser) rs368215405
NM_001082486.2(ACD):c.98A>G (p.Glu33Gly) rs2543611275
NM_001082486.2(ACD):c.990C>A (p.Ser330=)
NM_001082486.2(ACD):c.992C>G (p.Pro331Arg) rs1265024699
NM_001082486.2(ACD):c.994C>A (p.His332Asn) rs981467552
NM_001082486.2(ACD):c.994C>T (p.His332Tyr)
NM_001082486.2(ACD):c.996C>G (p.His332Gln) rs560864093
NM_001082486.2(ACD):c.997G>T (p.Ala333Ser)
NM_001082486.2(ACD):c.998C>A (p.Ala333Asp) rs973439601

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