ClinVar Miner

List of variants reported as uncertain significance for congenital myasthenic syndrome by Invitae

Included ClinVar conditions (53):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3941
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HGVS dbSNP gnomAD frequency
NM_198576.4(AGRN):c.4840G>A (p.Glu1614Lys) rs147259096 0.00113
NM_198576.4(AGRN):c.4343C>T (p.Pro1448Leu) rs200232485 0.00099
NM_198576.4(AGRN):c.5C>A (p.Ala2Asp) rs776698665 0.00096
NM_144988.4(ALG14):c.182A>G (p.Asn61Ser) rs138996965 0.00061
NM_198576.4(AGRN):c.2987C>A (p.Ala996Glu) rs148475305 0.00057
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_198576.4(AGRN):c.3575G>A (p.Arg1192Gln) rs200339732 0.00053
NM_001171613.2(PREPL):c.1844A>G (p.Lys615Arg) rs138348037 0.00049
NM_001171613.2(PREPL):c.450A>C (p.Lys150Asn) rs142981913 0.00049
NM_000747.3(CHRNB1):c.229G>A (p.Val77Met) rs140556296 0.00047
NM_198576.4(AGRN):c.726C>T (p.Cys242=) rs369344193 0.00046
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_198576.4(AGRN):c.4633G>A (p.Val1545Met) rs369276144 0.00044
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) rs61736853 0.00042
NM_002334.4(LRP4):c.4699A>T (p.Arg1567Trp) rs199747378 0.00041
NM_002334.4(LRP4):c.5558G>A (p.Ser1853Asn) rs139535571 0.00041
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
NM_001171613.2(PREPL):c.1542A>C (p.Glu514Asp) rs138237715 0.00039
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00038
NM_005677.4(COLQ):c.242A>G (p.Asn81Ser) rs777215134 0.00038
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 0.00038
NM_198576.4(AGRN):c.1996C>G (p.Gln666Glu) rs138977015 0.00038
NM_198576.4(AGRN):c.2309C>T (p.Pro770Leu) rs113017128 0.00038
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) rs140282454 0.00036
NM_173660.5(DOK7):c.1225C>T (p.Arg409Cys) rs199606134 0.00036
NM_198576.4(AGRN):c.2536C>T (p.Pro846Ser) rs138248828 0.00035
NM_005677.4(COLQ):c.391A>G (p.Lys131Glu) rs142980906 0.00034
NM_198576.4(AGRN):c.698G>T (p.Arg233Leu) rs532795042 0.00032
NM_001171613.2(PREPL):c.562G>A (p.Val188Met) rs150341120 0.00031
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_173660.5(DOK7):c.1425G>T (p.Trp475Cys) rs777626370 0.00029
NM_198576.4(AGRN):c.172G>A (p.Asp58Asn) rs750933418 0.00029
NM_198576.4(AGRN):c.2496C>G (p.Asn832Lys) rs142252759 0.00029
NM_001171613.2(PREPL):c.-49+1881A>G rs199938599 0.00028
NM_021815.5(SLC5A7):c.1177A>G (p.Thr393Ala) rs75427357 0.00026
NM_173660.5(DOK7):c.32T>C (p.Val11Ala) rs375168516 0.00026
NM_198576.4(AGRN):c.1540G>A (p.Glu514Lys) rs143976046 0.00026
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_000747.3(CHRNB1):c.340G>A (p.Val114Met) rs149433073 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_198576.4(AGRN):c.3256G>A (p.Glu1086Lys) rs141217865 0.00024
NM_005592.4(MUSK):c.1099C>T (p.Arg367Trp) rs201014623 0.00023
NM_005677.4(COLQ):c.737G>C (p.Gly246Ala) rs146687198 0.00023
NM_198576.4(AGRN):c.2002G>A (p.Glu668Lys) rs199801106 0.00023
NM_020549.5(CHAT):c.1511+5G>A rs371888779 0.00022
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423 0.00022
NM_198576.4(AGRN):c.2950G>A (p.Val984Met) rs371483148 0.00022
NM_198576.4(AGRN):c.4967G>A (p.Arg1656Gln) rs374905300 0.00021
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_021815.5(SLC5A7):c.1645C>A (p.Gln549Lys) rs1280034815 0.00020
NM_198576.4(AGRN):c.3803G>A (p.Gly1268Glu) rs755427684 0.00020
NM_198576.4(AGRN):c.523A>G (p.Met175Val) rs575663792 0.00020
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) rs150532554 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900 0.00019
NM_198576.4(AGRN):c.1864C>T (p.Arg622Trp) rs142143178 0.00019
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_021815.5(SLC5A7):c.1306G>A (p.Val436Met) rs148535388 0.00017
NM_173660.5(DOK7):c.1090C>T (p.Arg364Trp) rs577156980 0.00017
NM_198576.4(AGRN):c.4061C>A (p.Thr1354Asn) rs766470739 0.00017
NM_002334.4(LRP4):c.695G>A (p.Arg232His) rs370407081 0.00016
NM_005677.4(COLQ):c.788C>T (p.Pro263Leu) rs146619514 0.00016
NM_144988.4(ALG14):c.98C>T (p.Pro33Leu) rs200080963 0.00016
NM_198576.4(AGRN):c.1342C>T (p.Arg448Trp) rs146770768 0.00016
NM_198576.4(AGRN):c.1460C>T (p.Ala487Val) rs139302553 0.00016
NM_198576.4(AGRN):c.2666C>T (p.Ala889Val) rs532395667 0.00016
NM_198576.4(AGRN):c.3764C>T (p.Ala1255Val) rs137965991 0.00016
NM_198576.4(AGRN):c.3773C>T (p.Thr1258Met) rs141842070 0.00016
NM_198576.4(AGRN):c.3958G>A (p.Gly1320Arg) rs780180385 0.00016
NM_001244710.2(GFPT1):c.236T>C (p.Met79Thr) rs142871135 0.00015
NM_005677.4(COLQ):c.1018C>T (p.Arg340Cys) rs138818971 0.00015
NM_020549.5(CHAT):c.1511G>A (p.Arg504Gln) rs200335347 0.00015
NM_198576.4(AGRN):c.2515G>A (p.Asp839Asn) rs148315419 0.00015
NM_198576.4(AGRN):c.643T>G (p.Ser215Ala) rs764152471 0.00015
NM_000080.4(CHRNE):c.1327-3C>T rs749489742 0.00014
NM_000080.4(CHRNE):c.896T>C (p.Leu299Pro) rs142735836 0.00014
NM_001171613.2(PREPL):c.1849C>G (p.Leu617Val) rs150477781 0.00014
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) rs143885233 0.00014
NM_002334.4(LRP4):c.4594G>C (p.Val1532Leu) rs147609642 0.00014
NM_002334.4(LRP4):c.605G>A (p.Arg202His) rs149056824 0.00014
NM_005592.4(MUSK):c.680C>A (p.Ser227Tyr) rs374657556 0.00014
NM_021815.5(SLC5A7):c.1549G>A (p.Val517Ile) rs773393717 0.00014
NM_033087.4(ALG2):c.217G>C (p.Asp73His) rs375634924 0.00014
NM_198576.4(AGRN):c.2737G>A (p.Val913Met) rs140120617 0.00014
NM_198576.4(AGRN):c.3166G>A (p.Ala1056Thr) rs201651738 0.00014
NM_198576.4(AGRN):c.3950G>A (p.Arg1317His) rs376518159 0.00014
NM_198576.4(AGRN):c.4513G>A (p.Val1505Met) rs372918766 0.00014
NM_198576.4(AGRN):c.5308G>A (p.Asp1770Asn) rs141464249 0.00014
NM_000080.4(CHRNE):c.1042G>A (p.Glu348Lys) rs757968612 0.00013
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) rs759668768 0.00013
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_005677.4(COLQ):c.1087T>C (p.Tyr363His) rs756508281 0.00013
NM_020549.5(CHAT):c.740C>T (p.Ala247Val) rs561562136 0.00013
NM_173660.5(DOK7):c.1346C>T (p.Thr449Met) rs373864257 0.00013
NM_173660.5(DOK7):c.596T>G (p.Ile199Ser) rs148650015 0.00013
NM_173660.5(DOK7):c.752C>T (p.Ala251Val) rs376251309 0.00013
NM_198576.4(AGRN):c.1384+6C>T rs763495287 0.00013
NM_198576.4(AGRN):c.3697C>T (p.Arg1233Trp) rs147673996 0.00013
NM_198576.4(AGRN):c.6068G>T (p.Gly2023Val) rs374160610 0.00013
NM_001171613.2(PREPL):c.1726G>A (p.Ala576Thr) rs145230776 0.00012
NM_001171613.2(PREPL):c.1727C>T (p.Ala576Val) rs202130215 0.00012
NM_001244710.2(GFPT1):c.124T>G (p.Phe42Val) rs948398303 0.00012
NM_001382.4(DPAGT1):c.496+3A>G rs565154071 0.00012
NM_144988.4(ALG14):c.532G>A (p.Val178Ile) rs373069354 0.00012
NM_198576.4(AGRN):c.1513G>A (p.Asp505Asn) rs147081710 0.00012
NM_198576.4(AGRN):c.5738C>T (p.Thr1913Met) rs201604787 0.00012
NM_000080.4(CHRNE):c.1183T>G (p.Phe395Val) rs755802710 0.00011
NM_002334.4(LRP4):c.4274G>A (p.Arg1425Gln) rs143444937 0.00011
NM_002334.4(LRP4):c.472G>A (p.Gly158Arg) rs193247849 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_005592.4(MUSK):c.1516A>G (p.Ile506Val) rs191581729 0.00011
NM_005677.4(COLQ):c.1155G>C (p.Glu385Asp) rs116503231 0.00011
NM_005677.4(COLQ):c.812C>T (p.Ala271Val) rs373735085 0.00011
NM_020549.5(CHAT):c.1977+4C>T rs200116201 0.00011
NM_020549.5(CHAT):c.866C>T (p.Thr289Met) rs139352363 0.00011
NM_173660.5(DOK7):c.931A>G (p.Met311Val) rs752949999 0.00011
NM_173660.5(DOK7):c.971C>T (p.Pro324Leu) rs546889092 0.00011
NM_198576.4(AGRN):c.149C>T (p.Thr50Met) rs767809484 0.00011
NM_198576.4(AGRN):c.3161C>T (p.Ala1054Val) rs377535426 0.00011
NM_198576.4(AGRN):c.4517C>T (p.Ala1506Val) rs373657385 0.00011
NM_198576.4(AGRN):c.4879+4G>A rs746457706 0.00011
NM_000747.3(CHRNB1):c.59-3C>T rs372041531 0.00010
NM_001171613.2(PREPL):c.1619T>C (p.Ile540Thr) rs201400293 0.00010
NM_001171613.2(PREPL):c.1747G>C (p.Gly583Arg) rs758234210 0.00010
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_005592.4(MUSK):c.1061C>T (p.Thr354Met) rs200064775 0.00010
NM_005592.4(MUSK):c.979G>A (p.Ala327Thr) rs776201930 0.00010
NM_020549.5(CHAT):c.1385C>T (p.Thr462Met) rs538478136 0.00010
NM_020549.5(CHAT):c.284C>A (p.Ala95Glu) rs977117524 0.00010
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg) rs1054683823 0.00010
NM_173660.5(DOK7):c.1354C>T (p.Arg452Trp) rs375116985 0.00010
NM_198576.4(AGRN):c.183G>C (p.Gln61His) rs951245406 0.00010
NM_198576.4(AGRN):c.3925C>T (p.Arg1309Trp) rs564635058 0.00010
NM_198576.4(AGRN):c.4976+3C>T rs113681205 0.00010
NM_198576.4(AGRN):c.5326C>T (p.Arg1776Cys) rs146978562 0.00010
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr) rs1284035468 0.00009
NM_001171613.2(PREPL):c.1868T>A (p.Leu623His) rs746165384 0.00009
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) rs1016844949 0.00009
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.2980G>A (p.Val994Ile) rs370091369 0.00009
NM_002334.4(LRP4):c.3073G>C (p.Gly1025Arg) rs141565454 0.00009
NM_002334.4(LRP4):c.5489G>A (p.Arg1830Gln) rs146864522 0.00009
NM_002334.4(LRP4):c.5650A>G (p.Arg1884Gly) rs377204138 0.00009
NM_002334.4(LRP4):c.70G>A (p.Glu24Lys) rs200465829 0.00009
NM_005055.5(RAPSN):c.928G>A (p.Glu310Lys) rs367565995 0.00009
NM_005592.4(MUSK):c.2520C>A (p.Ser840Arg) rs768074747 0.00009
NM_005677.4(COLQ):c.117C>A (p.Ser39Arg) rs138891500 0.00009
NM_020549.5(CHAT):c.1635-3C>G rs761868634 0.00009
NM_021815.5(SLC5A7):c.1453G>A (p.Val485Ile) rs754211137 0.00009
NM_021815.5(SLC5A7):c.1643G>A (p.Arg548Gln) rs199864231 0.00009
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln) rs369231996 0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile) rs373454393 0.00009
NM_144988.4(ALG14):c.181A>G (p.Asn61Asp) rs577399329 0.00009
NM_173660.5(DOK7):c.1403G>A (p.Gly468Asp) rs767909551 0.00009
NM_173660.5(DOK7):c.1503C>A (p.Asn501Lys) rs750262940 0.00009
NM_173660.5(DOK7):c.838C>T (p.Arg280Trp) rs139573161 0.00009
NM_173660.5(DOK7):c.932T>C (p.Met311Thr) rs763124567 0.00009
NM_198576.4(AGRN):c.1343G>A (p.Arg448Gln) rs772102866 0.00009
NM_198576.4(AGRN):c.2241G>C (p.Gln747His) rs144361725 0.00009
NM_198576.4(AGRN):c.2306C>T (p.Thr769Met) rs148837216 0.00009
NM_198576.4(AGRN):c.245G>A (p.Arg82Gln) rs368144442 0.00009
NM_198576.4(AGRN):c.2651G>A (p.Arg884His) rs369686860 0.00009
NM_198576.4(AGRN):c.2971C>T (p.Leu991Phe) rs749588875 0.00009
NM_198576.4(AGRN):c.4090G>A (p.Ala1364Thr) rs375639071 0.00009
NM_198576.4(AGRN):c.4178C>T (p.Thr1393Met) rs766462843 0.00009
NM_198576.4(AGRN):c.4393C>T (p.Arg1465Trp) rs149011678 0.00009
NM_198576.4(AGRN):c.4477C>T (p.Leu1493Phe) rs138526997 0.00009
NM_000080.4(CHRNE):c.1051C>T (p.Pro351Ser) rs964034772 0.00008
NM_000080.4(CHRNE):c.820A>G (p.Thr274Ala) rs774407731 0.00008
NM_000747.3(CHRNB1):c.243+18G>T rs369504006 0.00008
NM_001171613.2(PREPL):c.1783A>T (p.Ile595Phe) rs200605467 0.00008
NM_001171613.2(PREPL):c.329T>C (p.Phe110Ser) rs777176046 0.00008
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001244710.2(GFPT1):c.805G>A (p.Glu269Lys) rs536572222 0.00008
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) rs142660660 0.00008
NM_002334.4(LRP4):c.3940G>A (p.Gly1314Ser) rs371961330 0.00008
NM_002334.4(LRP4):c.4183G>A (p.Val1395Met) rs774275092 0.00008
NM_005055.5(RAPSN):c.775C>T (p.Arg259Cys) rs150207592 0.00008
NM_005592.4(MUSK):c.1942G>A (p.Gly648Arg) rs201291910 0.00008
NM_005592.4(MUSK):c.2287G>A (p.Ala763Thr) rs199507468 0.00008
NM_005677.4(COLQ):c.1117G>A (p.Gly373Ser) rs202019416 0.00008
NM_005677.4(COLQ):c.367-3T>C rs368112392 0.00008
NM_005677.4(COLQ):c.61G>A (p.Val21Met) rs142115188 0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln) rs143625172 0.00008
NM_144988.4(ALG14):c.83C>A (p.Ser28Tyr) rs201827828 0.00008
NM_173660.5(DOK7):c.1084G>A (p.Val362Met) rs760157322 0.00008
NM_173660.5(DOK7):c.1230C>A (p.Ser410Arg) rs200593935 0.00008
NM_173660.5(DOK7):c.1373C>A (p.Ala458Asp) rs778440478 0.00008
NM_173660.5(DOK7):c.1388A>G (p.Glu463Gly) rs769974159 0.00008
NM_173660.5(DOK7):c.214G>A (p.Glu72Lys) rs770653049 0.00008
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_198576.4(AGRN):c.2093C>T (p.Ser698Leu) rs565444145 0.00008
NM_198576.4(AGRN):c.2182G>A (p.Glu728Lys) rs757879583 0.00008
NM_198576.4(AGRN):c.3034G>A (p.Ala1012Thr) rs144781935 0.00008
NM_198576.4(AGRN):c.3830C>T (p.Ser1277Leu) rs747114622 0.00008
NM_198576.4(AGRN):c.4924G>A (p.Gly1642Ser) rs200051701 0.00008
NM_198576.4(AGRN):c.5753A>G (p.Tyr1918Cys) rs779519955 0.00008
NM_198576.4(AGRN):c.905C>T (p.Ala302Val) rs759162806 0.00008
NM_001171613.2(PREPL):c.508A>G (p.Thr170Ala) rs560481380 0.00007
NM_001244710.2(GFPT1):c.362T>C (p.Ile121Thr) rs753866967 0.00007
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) rs542516384 0.00007
NM_002334.4(LRP4):c.1288C>T (p.Arg430Trp) rs140528156 0.00007
NM_002334.4(LRP4):c.3277+5G>T rs374900441 0.00007
NM_002334.4(LRP4):c.5054G>A (p.Arg1685Gln) rs138238230 0.00007
NM_021815.5(SLC5A7):c.1081C>T (p.Arg361Trp) rs376624433 0.00007
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr) rs763662395 0.00007
NM_130811.4(SNAP25):c.23G>A (p.Arg8His) rs374115269 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_173660.5(DOK7):c.1457C>T (p.Pro486Leu) rs200015934 0.00007
NM_198576.4(AGRN):c.1865G>A (p.Arg622Gln) rs140789461 0.00007
NM_198576.4(AGRN):c.3387C>T (p.Pro1129=) rs758046832 0.00007
NM_198576.4(AGRN):c.3673C>T (p.Arg1225Trp) rs754771889 0.00007
NM_198576.4(AGRN):c.3685G>C (p.Val1229Leu) rs528146665 0.00007
NM_198576.4(AGRN):c.4138C>T (p.Arg1380Cys) rs747790893 0.00007
NM_198576.4(AGRN):c.4526G>A (p.Arg1509Gln) rs371477631 0.00007
NM_198576.4(AGRN):c.5107C>T (p.Arg1703Cys) rs151104255 0.00007
NM_000080.4(CHRNE):c.1115C>T (p.Ala372Val) rs912512352 0.00006
NM_000080.4(CHRNE):c.1262G>A (p.Arg421His) rs144952259 0.00006
NM_000080.4(CHRNE):c.1345C>T (p.Arg449Cys) rs149083639 0.00006
NM_000080.4(CHRNE):c.406G>A (p.Val136Met) rs773822199 0.00006
NM_000747.3(CHRNB1):c.598G>A (p.Gly200Arg) rs149981394 0.00006
NM_000747.3(CHRNB1):c.694C>A (p.Arg232Ser) rs751294067 0.00006
NM_000747.3(CHRNB1):c.728G>A (p.Arg243His) rs200409941 0.00006
NM_001171613.2(PREPL):c.1289G>C (p.Trp430Ser) rs760033510 0.00006
NM_001171613.2(PREPL):c.1510A>T (p.Met504Leu) rs369887158 0.00006
NM_001171613.2(PREPL):c.364G>A (p.Glu122Lys) rs147671673 0.00006
NM_001171613.2(PREPL):c.659A>C (p.Glu220Ala) rs370146295 0.00006
NM_001244710.2(GFPT1):c.229C>A (p.Gln77Lys) rs143036820 0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) rs751590922 0.00006
NM_002334.4(LRP4):c.1055G>A (p.Arg352Gln) rs773234882 0.00006
NM_002334.4(LRP4):c.1369C>T (p.Arg457Cys) rs148856658 0.00006
NM_002334.4(LRP4):c.5309G>A (p.Arg1770Gln) rs150211735 0.00006
NM_002334.4(LRP4):c.5513G>A (p.Arg1838Gln) rs770309253 0.00006
NM_002334.4(LRP4):c.5626G>A (p.Val1876Ile) rs761403316 0.00006
NM_002334.4(LRP4):c.676+4A>G rs759630167 0.00006
NM_002334.4(LRP4):c.826C>T (p.Arg276Cys) rs557300271 0.00006
NM_005592.4(MUSK):c.929A>C (p.Gln310Pro) rs201804790 0.00006
NM_005677.4(COLQ):c.1019G>A (p.Arg340His) rs375225755 0.00006
NM_005677.4(COLQ):c.1205G>A (p.Arg402His) rs140670616 0.00006
NM_005677.4(COLQ):c.1355G>A (p.Arg452His) rs754915644 0.00006
NM_005677.4(COLQ):c.707G>A (p.Arg236Gln) rs200770910 0.00006
NM_005677.4(COLQ):c.785G>A (p.Arg262His) rs201158622 0.00006
NM_005677.4(COLQ):c.944G>A (p.Arg315Gln) rs778740405 0.00006
NM_020549.5(CHAT):c.1375A>G (p.Lys459Glu) rs769398642 0.00006
NM_020549.5(CHAT):c.1460G>T (p.Cys487Phe) rs201293521 0.00006
NM_020549.5(CHAT):c.580-5G>A rs763339825 0.00006
NM_020549.5(CHAT):c.929A>G (p.Asn310Ser) rs149976821 0.00006
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly) rs752153404 0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu) rs754476664 0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496 0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_144988.4(ALG14):c.179C>G (p.Ser60Cys) rs780277809 0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_173660.5(DOK7):c.1133C>T (p.Ala378Val) rs371846002 0.00006
NM_173660.5(DOK7):c.1393A>G (p.Thr465Ala) rs765625554 0.00006
NM_173660.5(DOK7):c.1435G>A (p.Gly479Ser) rs140519765 0.00006
NM_173660.5(DOK7):c.1483T>G (p.Cys495Gly) rs775074100 0.00006
NM_173660.5(DOK7):c.155G>A (p.Arg52Gln) rs201953114 0.00006
NM_173660.5(DOK7):c.229A>G (p.Thr77Ala) rs759395609 0.00006
NM_173660.5(DOK7):c.327C>T (p.Gly109=) rs377367035 0.00006
NM_173660.5(DOK7):c.922G>A (p.Gly308Arg) rs759691572 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_173660.5(DOK7):c.974G>A (p.Arg325Gln) rs750929473 0.00006
NM_198576.4(AGRN):c.1729G>A (p.Glu577Lys) rs370516291 0.00006
NM_198576.4(AGRN):c.1945G>A (p.Ala649Thr) rs555209196 0.00006
NM_198576.4(AGRN):c.2219G>A (p.Arg740Gln) rs146863919 0.00006
NM_198576.4(AGRN):c.2473C>T (p.Arg825Cys) rs370387335 0.00006
NM_198576.4(AGRN):c.3569G>A (p.Arg1190His) rs149762107 0.00006
NM_198576.4(AGRN):c.3662G>A (p.Arg1221Gln) rs764139323 0.00006
NM_198576.4(AGRN):c.3718C>T (p.Pro1240Ser) rs768688185 0.00006
NM_198576.4(AGRN):c.3839C>T (p.Pro1280Leu) rs774023993 0.00006
NM_198576.4(AGRN):c.4124C>T (p.Pro1375Leu) rs750116279 0.00006
NM_198576.4(AGRN):c.4406C>T (p.Ser1469Leu) rs200646795 0.00006
NM_198576.4(AGRN):c.4561C>T (p.Arg1521Cys) rs550316749 0.00006
NM_198576.4(AGRN):c.4602T>G (p.Ile1534Met) rs771367279 0.00006
NM_198576.4(AGRN):c.4735G>A (p.Gly1579Ser) rs556296275 0.00006
NM_198576.4(AGRN):c.4786C>T (p.Pro1596Ser) rs777910926 0.00006
NM_198576.4(AGRN):c.4871G>C (p.Cys1624Ser) rs758206649 0.00006
NM_198576.4(AGRN):c.5056G>A (p.Gly1686Ser) rs142783040 0.00006
NM_198576.4(AGRN):c.5075C>T (p.Ser1692Leu) rs143143061 0.00006
NM_198576.4(AGRN):c.5216G>A (p.Arg1739His) rs762052033 0.00006
NM_198576.4(AGRN):c.5416C>T (p.Arg1806Trp) rs757150379 0.00006
NM_198576.4(AGRN):c.5674C>T (p.His1892Tyr) rs201518881 0.00006
NM_198576.4(AGRN):c.5948C>T (p.Thr1983Met) rs147569326 0.00006
NM_000080.4(CHRNE):c.1103C>T (p.Pro368Leu) rs371919434 0.00005
NM_000080.4(CHRNE):c.1168C>T (p.Arg390Trp) rs140763858 0.00005
NM_000747.3(CHRNB1):c.419G>T (p.Arg140Leu) rs140086721 0.00005
NM_001171613.2(PREPL):c.-36G>A rs147513483 0.00005
NM_001244710.2(GFPT1):c.1324+3G>A rs367865496 0.00005
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn) rs770279192 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) rs372637156 0.00005
NM_005055.5(RAPSN):c.1066G>A (p.Val356Met) rs570140663 0.00005
NM_005055.5(RAPSN):c.202G>A (p.Val68Ile) rs200892332 0.00005
NM_005055.5(RAPSN):c.215C>T (p.Thr72Met) rs770633491 0.00005
NM_005055.5(RAPSN):c.364G>A (p.Gly122Arg) rs150756111 0.00005
NM_005055.5(RAPSN):c.690+4G>A rs201803329 0.00005
NM_005055.5(RAPSN):c.949G>A (p.Glu317Lys) rs772054419 0.00005
NM_005592.4(MUSK):c.17A>G (p.Asn6Ser) rs747203404 0.00005
NM_005592.4(MUSK):c.1847C>T (p.Ser616Leu) rs181652070 0.00005
NM_005677.4(COLQ):c.1195C>T (p.Arg399Cys) rs779594053 0.00005
NM_005677.4(COLQ):c.428C>A (p.Pro143His) rs373840796 0.00005
NM_020549.5(CHAT):c.1142T>C (p.Ile381Thr) rs372758559 0.00005
NM_020549.5(CHAT):c.1423A>T (p.Ser475Cys) rs765549293 0.00005
NM_020549.5(CHAT):c.2139A>C (p.Glu713Asp) rs771548584 0.00005
NM_021815.5(SLC5A7):c.466A>T (p.Ile156Phe) rs763294235 0.00005
NM_033087.4(ALG2):c.368T>C (p.Val123Ala) rs762560638 0.00005
NM_173660.5(DOK7):c.1219A>G (p.Thr407Ala) rs377326004 0.00005
NM_173660.5(DOK7):c.314G>A (p.Arg105His) rs776352781 0.00005
NM_173660.5(DOK7):c.54+8C>T rs577687998 0.00005
NM_173660.5(DOK7):c.829G>A (p.Ala277Thr) rs759117081 0.00005
NM_173660.5(DOK7):c.968G>A (p.Arg323His) rs763188032 0.00005
NM_198576.4(AGRN):c.1271C>T (p.Ala424Val) rs768774592 0.00005
NM_198576.4(AGRN):c.3074G>A (p.Arg1025Gln) rs372696395 0.00005
NM_198576.4(AGRN):c.3910G>A (p.Ala1304Thr) rs375590400 0.00005
NM_198576.4(AGRN):c.4286G>A (p.Arg1429His) rs756082014 0.00005
NM_198576.4(AGRN):c.4586G>A (p.Arg1529His) rs369873010 0.00005
NM_198576.4(AGRN):c.4883C>T (p.Ser1628Leu) rs368849231 0.00005
NM_198576.4(AGRN):c.5210C>T (p.Ala1737Val) rs374922434 0.00005
NM_198576.4(AGRN):c.5744G>A (p.Arg1915Gln) rs150134229 0.00005
NM_198576.4(AGRN):c.5767A>G (p.Ile1923Val) rs759500435 0.00005
NM_198576.4(AGRN):c.6022G>A (p.Ala2008Thr) rs766962416 0.00005
NM_198576.4(AGRN):c.973C>T (p.Pro325Ser) rs891174893 0.00005
NM_000080.4(CHRNE):c.1267T>A (p.Cys423Ser) rs372515997 0.00004
NM_000080.4(CHRNE):c.1390G>A (p.Val464Met) rs771016534 0.00004
NM_000080.4(CHRNE):c.598A>G (p.Thr200Ala) rs1336284577 0.00004
NM_000080.4(CHRNE):c.781G>T (p.Ala261Ser) rs762509943 0.00004
NM_000080.4(CHRNE):c.947C>T (p.Thr316Met) rs146533655 0.00004
NM_000747.3(CHRNB1):c.1406G>T (p.Arg469Leu) rs762250406 0.00004
NM_000747.3(CHRNB1):c.187C>G (p.Leu63Val) rs761035556 0.00004
NM_000747.3(CHRNB1):c.286G>T (p.Asp96Tyr) rs778968747 0.00004
NM_000747.3(CHRNB1):c.364A>C (p.Asn122His) rs776217572 0.00004
NM_000747.3(CHRNB1):c.407A>G (p.Asp136Gly) rs370702418 0.00004
NM_000747.3(CHRNB1):c.462+6C>T rs780337044 0.00004
NM_000747.3(CHRNB1):c.82G>A (p.Gly28Ser) rs761717412 0.00004
NM_001171613.2(PREPL):c.-49+1888G>A rs575814799 0.00004
NM_001171613.2(PREPL):c.1066C>T (p.Arg356Cys) rs201468991 0.00004
NM_001171613.2(PREPL):c.1084A>G (p.Lys362Glu) rs146886697 0.00004
NM_001171613.2(PREPL):c.1105A>G (p.Met369Val) rs182854421 0.00004
NM_001171613.2(PREPL):c.1150C>G (p.Pro384Ala) rs780193886 0.00004
NM_001171613.2(PREPL):c.1642A>G (p.Ile548Val) rs151116193 0.00004
NM_001171613.2(PREPL):c.1757A>G (p.Tyr586Cys) rs142051325 0.00004
NM_001171613.2(PREPL):c.206T>C (p.Ile69Thr) rs752887453 0.00004
NM_001171613.2(PREPL):c.283T>G (p.Cys95Gly) rs569491440 0.00004
NM_001171613.2(PREPL):c.604C>T (p.Leu202Phe) rs147910302 0.00004
NM_001171613.2(PREPL):c.716C>T (p.Ala239Val) rs778761279 0.00004
NM_001171613.2(PREPL):c.968T>G (p.Ile323Arg) rs926904705 0.00004
NM_001382.4(DPAGT1):c.728+6T>C rs373170483 0.00004
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.1309+6G>T rs532952316 0.00004
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) rs777801967 0.00004
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys) rs1323412236 0.00004
NM_002334.4(LRP4):c.2610C>T (p.Gly870=) rs751431064 0.00004
NM_002334.4(LRP4):c.2738G>A (p.Gly913Glu) rs376848284 0.00004
NM_002334.4(LRP4):c.2837C>G (p.Pro946Arg) rs368880157 0.00004
NM_002334.4(LRP4):c.3035G>T (p.Gly1012Val) rs748636802 0.00004
NM_002334.4(LRP4):c.3367C>A (p.Leu1123Ile) rs763514608 0.00004
NM_002334.4(LRP4):c.3388G>A (p.Ala1130Thr) rs142904009 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.5374T>C (p.Tyr1792His) rs146542222 0.00004
NM_002334.4(LRP4):c.5540C>T (p.Thr1847Met) rs375391856 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_005055.5(RAPSN):c.1090G>A (p.Gly364Ser) rs372865599 0.00004
NM_005055.5(RAPSN):c.1126C>T (p.Arg376Trp) rs145507075 0.00004
NM_005055.5(RAPSN):c.140G>A (p.Gly47Asp) rs201725858 0.00004
NM_005055.5(RAPSN):c.661C>T (p.Arg221Cys) rs769989407 0.00004
NM_005055.5(RAPSN):c.667G>A (p.Gly223Ser) rs138863694 0.00004
NM_005055.5(RAPSN):c.814G>A (p.Ala272Thr) rs771749514 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005055.5(RAPSN):c.889G>A (p.Val297Met) rs369570812 0.00004
NM_005592.4(MUSK):c.1100G>A (p.Arg367Gln) rs1038479586 0.00004
NM_005592.4(MUSK):c.2539C>A (p.Pro847Thr) rs760757288 0.00004
NM_005592.4(MUSK):c.647G>A (p.Arg216Gln) rs188464904 0.00004
NM_005592.4(MUSK):c.916T>C (p.Trp306Arg) rs1319203200 0.00004
NM_005677.4(COLQ):c.1072C>G (p.Gln358Glu) rs372064982 0.00004
NM_005677.4(COLQ):c.1282G>A (p.Glu428Lys) rs141721093 0.00004
NM_005677.4(COLQ):c.133C>T (p.Arg45Cys) rs763096476 0.00004
NM_005677.4(COLQ):c.164C>T (p.Thr55Met) rs774271810 0.00004
NM_005677.4(COLQ):c.212G>A (p.Arg71Gln) rs775959815 0.00004
NM_005677.4(COLQ):c.71C>T (p.Pro24Leu) rs374642884 0.00004
NM_005677.4(COLQ):c.749C>T (p.Pro250Leu) rs200479277 0.00004
NM_005677.4(COLQ):c.794C>T (p.Pro265Leu) rs1366896613 0.00004
NM_020549.5(CHAT):c.1027G>A (p.Glu343Lys) rs778837182 0.00004
NM_020549.5(CHAT):c.1105G>A (p.Val369Met) rs769754418 0.00004
NM_020549.5(CHAT):c.1735G>A (p.Ala579Thr) rs750002983 0.00004
NM_020549.5(CHAT):c.1771G>A (p.Val591Met) rs201485243 0.00004
NM_020549.5(CHAT):c.1977+5G>A rs780449243 0.00004
NM_020549.5(CHAT):c.374G>A (p.Ser125Asn) rs756138129 0.00004
NM_021815.5(SLC5A7):c.1145G>A (p.Arg382Gln) rs757121838 0.00004
NM_021815.5(SLC5A7):c.1322C>T (p.Ser441Phe) rs754554826 0.00004
NM_021815.5(SLC5A7):c.1496A>C (p.Lys499Thr) rs200286711 0.00004
NM_021815.5(SLC5A7):c.872T>C (p.Ile291Thr) rs375397889 0.00004
NM_033087.4(ALG2):c.1156A>G (p.Met386Val) rs772649099 0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His) rs376959842 0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp) rs761793563 0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys) rs1372670324 0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp) rs780287266 0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser) rs925393788 0.00004
NM_130811.4(SNAP25):c.527G>A (p.Arg176His) rs751046094 0.00004
NM_144988.4(ALG14):c.140G>T (p.Gly47Val) rs139758313 0.00004
NM_144988.4(ALG14):c.310C>T (p.Arg104Ter) rs367570129 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_144988.4(ALG14):c.406G>A (p.Val136Met) rs374376710 0.00004
NM_173660.5(DOK7):c.1138G>T (p.Ala380Ser) rs760412846 0.00004
NM_173660.5(DOK7):c.1318G>A (p.Ala440Thr) rs753026831 0.00004
NM_173660.5(DOK7):c.1384A>G (p.Ser462Gly) rs771017173 0.00004
NM_173660.5(DOK7):c.308G>A (p.Arg103Gln) rs377554325 0.00004
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 0.00004
NM_173660.5(DOK7):c.797C>T (p.Ser266Leu) rs763936252 0.00004
NM_173660.5(DOK7):c.866C>T (p.Ser289Leu) rs748566350 0.00004
NM_173660.5(DOK7):c.880A>G (p.Thr294Ala) rs143821601 0.00004
NM_173660.5(DOK7):c.952C>A (p.Pro318Thr) rs754476094 0.00004
NM_198576.4(AGRN):c.1054C>T (p.Arg352Trp) rs149868381 0.00004
NM_198576.4(AGRN):c.1112G>A (p.Gly371Asp) rs201725247 0.00004
NM_198576.4(AGRN):c.1232G>A (p.Arg411His) rs201787384 0.00004
NM_198576.4(AGRN):c.1277G>A (p.Arg426Lys) rs761799771 0.00004
NM_198576.4(AGRN):c.1304C>T (p.Thr435Met) rs777883200 0.00004
NM_198576.4(AGRN):c.1315G>A (p.Asp439Asn) rs758713569 0.00004
NM_198576.4(AGRN):c.1352G>A (p.Arg451His) rs760216957 0.00004
NM_198576.4(AGRN):c.1645G>A (p.Glu549Lys) rs754363785 0.00004
NM_198576.4(AGRN):c.1654C>T (p.Arg552Cys) rs556149611 0.00004
NM_198576.4(AGRN):c.1693C>T (p.Pro565Ser) rs760195130 0.00004
NM_198576.4(AGRN):c.1717A>T (p.Thr573Ser) rs751832415 0.00004
NM_198576.4(AGRN):c.1744G>A (p.Val582Met) rs141661464 0.00004
NM_198576.4(AGRN):c.1982C>T (p.Ala661Val) rs767255310 0.00004
NM_198576.4(AGRN):c.2038G>A (p.Gly680Ser) rs139983410 0.00004
NM_198576.4(AGRN):c.2246C>G (p.Ala749Gly) rs777321497 0.00004
NM_198576.4(AGRN):c.2255-3C>T rs199892129 0.00004
NM_198576.4(AGRN):c.2345G>A (p.Arg782Gln) rs776934498 0.00004
NM_198576.4(AGRN):c.2567G>A (p.Arg856Gln) rs576278814 0.00004
NM_198576.4(AGRN):c.2600C>T (p.Ser867Leu) rs1037530738 0.00004
NM_198576.4(AGRN):c.2706G>A (p.Ala902=) rs138212489 0.00004
NM_198576.4(AGRN):c.2798C>T (p.Ala933Val) rs375711798 0.00004
NM_198576.4(AGRN):c.2942C>T (p.Ser981Phe) rs368058639 0.00004
NM_198576.4(AGRN):c.3516C>T (p.Thr1172=) rs543142635 0.00004
NM_198576.4(AGRN):c.3524A>G (p.Asp1175Gly) rs536978031 0.00004
NM_198576.4(AGRN):c.3544G>A (p.Val1182Ile) rs748783998 0.00004
NM_198576.4(AGRN):c.3560G>A (p.Arg1187Gln) rs772632690 0.00004
NM_198576.4(AGRN):c.3598G>A (p.Val1200Ile) rs755901578 0.00004
NM_198576.4(AGRN):c.383A>G (p.His128Arg) rs138808237 0.00004
NM_198576.4(AGRN):c.3905C>T (p.Thr1302Met) rs745898927 0.00004
NM_198576.4(AGRN):c.3952G>A (p.Val1318Met) rs1044828934 0.00004
NM_198576.4(AGRN):c.3971C>T (p.Pro1324Leu) rs770876851 0.00004
NM_198576.4(AGRN):c.4319C>T (p.Pro1440Leu) rs1013476257 0.00004
NM_198576.4(AGRN):c.4367G>A (p.Arg1456His) rs372604628 0.00004
NM_198576.4(AGRN):c.4402C>G (p.Leu1468Val) rs765711896 0.00004
NM_198576.4(AGRN):c.4534G>A (p.Val1512Met) rs201212251 0.00004
NM_198576.4(AGRN):c.4651C>T (p.His1551Tyr) rs771455197 0.00004
NM_198576.4(AGRN):c.4743C>T (p.Val1581=) rs774687739 0.00004
NM_198576.4(AGRN):c.5221G>C (p.Gly1741Arg) rs1051289078 0.00004
NM_198576.4(AGRN):c.5327G>A (p.Arg1776His) rs757621899 0.00004
NM_198576.4(AGRN):c.5338G>A (p.Val1780Met) rs375378609 0.00004
NM_198576.4(AGRN):c.5402C>T (p.Pro1801Leu) rs762249229 0.00004
NM_198576.4(AGRN):c.5497G>A (p.Val1833Ile) rs377622440 0.00004
NM_198576.4(AGRN):c.5626G>A (p.Glu1876Lys) rs367790694 0.00004
NM_198576.4(AGRN):c.5652-3C>T rs371046187 0.00004
NM_198576.4(AGRN):c.5861G>A (p.Arg1954Gln) rs775547243 0.00004
NM_198576.4(AGRN):c.5990C>T (p.Pro1997Leu) rs144091542 0.00004
NM_198576.4(AGRN):c.6097G>A (p.Ala2033Thr) rs374026237 0.00004
NM_198576.4(AGRN):c.6100G>A (p.Val2034Ile) rs760232764 0.00004
NM_000080.4(CHRNE):c.1289T>G (p.Val430Gly) rs200343520 0.00003
NM_000080.4(CHRNE):c.509C>G (p.Thr170Arg) rs375652301 0.00003
NM_000080.4(CHRNE):c.989A>G (p.Gln330Arg) rs747017964 0.00003
NM_000747.3(CHRNB1):c.1003C>T (p.Arg335Cys) rs779467380 0.00003
NM_000747.3(CHRNB1):c.1365+5G>C rs1051316024 0.00003
NM_000747.3(CHRNB1):c.354-8C>G rs747533360 0.00003
NM_000747.3(CHRNB1):c.481G>A (p.Asp161Asn) rs766657460 0.00003
NM_000747.3(CHRNB1):c.578A>G (p.Gln193Arg) rs376604413 0.00003
NM_000747.3(CHRNB1):c.61G>A (p.Val21Ile) rs775150297 0.00003
NM_000747.3(CHRNB1):c.995T>G (p.Leu332Arg) rs749634279 0.00003
NM_001145536.2(C17orf107):c.*2083C>T rs906477326 0.00003
NM_001171613.2(PREPL):c.-49+1780A>G rs769195229 0.00003
NM_001171613.2(PREPL):c.1169A>G (p.Tyr390Cys) rs757204599 0.00003
NM_001171613.2(PREPL):c.1294G>A (p.Ala432Thr) rs373786632 0.00003
NM_001171613.2(PREPL):c.1304G>A (p.Arg435His) rs768429131 0.00003
NM_001171613.2(PREPL):c.1411G>C (p.Ala471Pro) rs371299047 0.00003
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met) rs780954540 0.00003
NM_001171613.2(PREPL):c.1597C>T (p.Arg533Cys) rs145088151 0.00003
NM_001171613.2(PREPL):c.1666G>A (p.Asp556Asn) rs191681889 0.00003
NM_001171613.2(PREPL):c.1760A>G (p.Gln587Arg) rs779401831 0.00003
NM_001171613.2(PREPL):c.1797C>T (p.Gly599=) rs1481266767 0.00003
NM_001171613.2(PREPL):c.1828A>T (p.Ile610Phe) rs751603399 0.00003
NM_001171613.2(PREPL):c.266A>G (p.Asp89Gly) rs760040766 0.00003
NM_001171613.2(PREPL):c.410G>A (p.Arg137His) rs371309095 0.00003
NM_001171613.2(PREPL):c.455A>G (p.Asn152Ser) rs763348800 0.00003
NM_001171613.2(PREPL):c.553A>G (p.Thr185Ala) rs150028917 0.00003
NM_001171613.2(PREPL):c.760A>G (p.Met254Val) rs771442588 0.00003
NM_001171613.2(PREPL):c.798T>G (p.Phe266Leu) rs750048724 0.00003
NM_001244710.2(GFPT1):c.715C>T (p.Arg239Trp) rs779427303 0.00003
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.1433G>A (p.Arg478His) rs1349507715 0.00003
NM_002334.4(LRP4):c.1825G>A (p.Gly609Arg) rs1389594811 0.00003
NM_002334.4(LRP4):c.1922C>T (p.Pro641Leu) rs886048355 0.00003
NM_002334.4(LRP4):c.2639C>T (p.Ala880Val) rs373683358 0.00003
NM_002334.4(LRP4):c.274G>A (p.Gly92Arg) rs754071316 0.00003
NM_002334.4(LRP4):c.323G>A (p.Arg108Gln) rs772332690 0.00003
NM_002334.4(LRP4):c.3344A>G (p.His1115Arg) rs758144252 0.00003
NM_002334.4(LRP4):c.3428C>T (p.Thr1143Met) rs751933622 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.448G>A (p.Asp150Asn) rs200746048 0.00003
NM_002334.4(LRP4):c.4516C>T (p.Arg1506Trp) rs766025454 0.00003
NM_002334.4(LRP4):c.4517G>A (p.Arg1506Gln) rs142300637 0.00003
NM_002334.4(LRP4):c.4928C>T (p.Pro1643Leu) rs767372563 0.00003
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00003
NM_002334.4(LRP4):c.825C>A (p.Phe275Leu) rs772586265 0.00003
NM_002334.4(LRP4):c.842G>A (p.Arg281His) rs146670859 0.00003
NM_002334.4(LRP4):c.968G>A (p.Arg323His) rs745607286 0.00003
NM_005055.5(RAPSN):c.1180A>C (p.Asn394His) rs762532220 0.00003
NM_005055.5(RAPSN):c.124C>T (p.Arg42Cys) rs201197735 0.00003
NM_005055.5(RAPSN):c.196G>A (p.Ala66Thr) rs145197671 0.00003
NM_005055.5(RAPSN):c.265C>G (p.Leu89Val) rs543224303 0.00003
NM_005055.5(RAPSN):c.706G>A (p.Ala236Thr) rs545915312 0.00003
NM_005055.5(RAPSN):c.725G>A (p.Arg242Gln) rs780963721 0.00003
NM_005055.5(RAPSN):c.808G>A (p.Asp270Asn) rs768011436 0.00003
NM_005055.5(RAPSN):c.822C>A (p.Ser274Arg) rs778371396 0.00003
NM_005055.5(RAPSN):c.863C>T (p.Ala288Val) rs760068830 0.00003
NM_005592.4(MUSK):c.1128C>A (p.Asn376Lys) rs773285595 0.00003
NM_005592.4(MUSK):c.1385-3C>T rs775863015 0.00003
NM_005592.4(MUSK):c.1583A>C (p.Lys528Thr) rs776545636 0.00003
NM_005592.4(MUSK):c.2300G>A (p.Arg767His) rs370079610 0.00003
NM_005592.4(MUSK):c.230T>C (p.Ile77Thr) rs547322569 0.00003
NM_005592.4(MUSK):c.468G>C (p.Lys156Asn) rs187347916 0.00003
NM_005592.4(MUSK):c.754-6T>A rs762500701 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005677.4(COLQ):c.674G>C (p.Gly225Ala) rs780362486 0.00003
NM_020549.5(CHAT):c.1550A>C (p.Asp517Ala) rs1368752304 0.00003
NM_020549.5(CHAT):c.1635-5C>A rs776745899 0.00003
NM_020549.5(CHAT):c.1675A>G (p.Ile559Val) rs202040717 0.00003
NM_020549.5(CHAT):c.181C>T (p.Pro61Ser) rs923971969 0.00003
NM_020549.5(CHAT):c.1895G>A (p.Arg632Gln) rs758448736 0.00003
NM_020549.5(CHAT):c.2219C>T (p.Thr740Met) rs755783618 0.00003
NM_020549.5(CHAT):c.26G>A (p.Arg9Lys) rs1056302745 0.00003
NM_020549.5(CHAT):c.314G>C (p.Gly105Ala) rs149711635 0.00003
NM_021815.5(SLC5A7):c.1144C>T (p.Arg382Ter) rs751468033 0.00003
NM_021815.5(SLC5A7):c.1285G>A (p.Gly429Arg) rs764287242 0.00003
NM_021815.5(SLC5A7):c.1655C>A (p.Thr552Asn) rs748431280 0.00003
NM_021815.5(SLC5A7):c.463G>A (p.Val155Met) rs775903161 0.00003
NM_021815.5(SLC5A7):c.973C>A (p.Gln325Lys) rs1191969326 0.00003
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357 0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644 0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp) rs934545988 0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp) rs752081241 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_144988.4(ALG14):c.311G>A (p.Arg104Gln) rs201781289 0.00003
NM_144988.4(ALG14):c.570T>A (p.His190Gln) rs770065162 0.00003
NM_173660.5(DOK7):c.1000A>G (p.Ser334Gly) rs769643041 0.00003
NM_173660.5(DOK7):c.1141C>T (p.Pro381Ser) rs574663125 0.00003
NM_173660.5(DOK7):c.1262C>A (p.Pro421His) rs373261147 0.00003
NM_173660.5(DOK7):c.1294A>G (p.Arg432Gly) rs1390831169 0.00003
NM_173660.5(DOK7):c.1451C>T (p.Pro484Leu) rs1057518522 0.00003
NM_173660.5(DOK7):c.1477C>G (p.Pro493Ala) rs748438470 0.00003
NM_173660.5(DOK7):c.1496A>G (p.Lys499Arg) rs865879271 0.00003
NM_173660.5(DOK7):c.36G>T (p.Lys12Asn) rs368106071 0.00003
NM_173660.5(DOK7):c.522G>C (p.Arg174Ser) rs762376200 0.00003
NM_173660.5(DOK7):c.54+3C>T rs1560200971 0.00003
NM_173660.5(DOK7):c.611C>A (p.Ser204Tyr) rs1219693310 0.00003
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) rs371408752 0.00003
NM_173660.5(DOK7):c.674C>T (p.Ser225Leu) rs769699131 0.00003
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly) rs370967580 0.00003
NM_173660.5(DOK7):c.857A>G (p.Glu286Gly) rs754105518 0.00003
NM_173660.5(DOK7):c.94G>A (p.Val32Met) rs1417673287 0.00003
NM_173660.5(DOK7):c.983A>C (p.Gln328Pro) rs752168445 0.00003
NM_173660.5(DOK7):c.994C>T (p.Arg332Cys) rs200394790 0.00003
NM_198576.4(AGRN):c.1118C>T (p.Ser373Leu) rs747332721 0.00003
NM_198576.4(AGRN):c.1177+4A>G rs28397093 0.00003
NM_198576.4(AGRN):c.1199G>A (p.Arg400Gln) rs748219640 0.00003
NM_198576.4(AGRN):c.1226G>A (p.Arg409His) rs143161987 0.00003
NM_198576.4(AGRN):c.1267G>A (p.Gly423Arg) rs775192392 0.00003
NM_198576.4(AGRN):c.1411G>A (p.Val471Met) rs148949051 0.00003
NM_198576.4(AGRN):c.1484C>T (p.Ser495Leu) rs753280577 0.00003
NM_198576.4(AGRN):c.1553C>T (p.Thr518Met) rs746322262 0.00003
NM_198576.4(AGRN):c.1589G>A (p.Arg530His) rs139590454 0.00003
NM_198576.4(AGRN):c.1612G>A (p.Gly538Arg) rs558214372 0.00003
NM_198576.4(AGRN):c.1937G>A (p.Arg646Gln) rs755605232 0.00003
NM_198576.4(AGRN):c.1969G>A (p.Glu657Lys) rs377567167 0.00003
NM_198576.4(AGRN):c.2008G>A (p.Gly670Ser) rs777497420 0.00003
NM_198576.4(AGRN):c.2324A>G (p.Gln775Arg) rs370381176 0.00003
NM_198576.4(AGRN):c.2494A>G (p.Asn832Asp) rs574793544 0.00003
NM_198576.4(AGRN):c.2521C>T (p.Arg841Trp) rs745850324 0.00003
NM_198576.4(AGRN):c.2566C>T (p.Arg856Trp) rs770329947 0.00003
NM_198576.4(AGRN):c.2725G>A (p.Gly909Ser) rs368433481 0.00003
NM_198576.4(AGRN):c.2771C>T (p.Pro924Leu) rs530518237 0.00003
NM_198576.4(AGRN):c.2866C>T (p.Arg956Cys) rs751407693 0.00003
NM_198576.4(AGRN):c.3119C>T (p.Thr1040Met) rs751987634 0.00003
NM_198576.4(AGRN):c.3301G>A (p.Glu1101Lys) rs371389185 0.00003
NM_198576.4(AGRN):c.3532C>T (p.Arg1178Trp) rs149268246 0.00003
NM_198576.4(AGRN):c.3698G>A (p.Arg1233Gln) rs746259185 0.00003
NM_198576.4(AGRN):c.3726G>C (p.Gln1242His) rs1396984760 0.00003
NM_198576.4(AGRN):c.3727G>A (p.Glu1243Lys) rs773267614 0.00003
NM_198576.4(AGRN):c.4051G>A (p.Gly1351Arg) rs867208955 0.00003
NM_198576.4(AGRN):c.4093G>A (p.Val1365Ile) rs745802920 0.00003
NM_198576.4(AGRN):c.4453G>A (p.Asp1485Asn) rs760184240 0.00003
NM_198576.4(AGRN):c.449A>C (p.Glu150Ala) rs149363091 0.00003
NM_198576.4(AGRN):c.4562G>A (p.Arg1521His) rs371871999 0.00003
NM_198576.4(AGRN):c.4622G>A (p.Arg1541Gln) rs760702396 0.00003
NM_198576.4(AGRN):c.4654C>T (p.Pro1552Ser) rs769748027 0.00003
NM_198576.4(AGRN):c.4738C>T (p.Arg1580Cys) rs756579775 0.00003
NM_198576.4(AGRN):c.4741G>A (p.Val1581Ile) rs376043332 0.00003
NM_198576.4(AGRN):c.4834C>G (p.Gln1612Glu) rs1276554627 0.00003
NM_198576.4(AGRN):c.4999G>A (p.Val1667Met) rs770750909 0.00003
NM_198576.4(AGRN):c.5071G>A (p.Val1691Met) rs752964147 0.00003
NM_198576.4(AGRN):c.5093G>A (p.Arg1698His) rs551658645 0.00003
NM_198576.4(AGRN):c.5200C>T (p.Arg1734Cys) rs372565629 0.00003
NM_198576.4(AGRN):c.5258C>T (p.Pro1753Leu) rs748126752 0.00003
NM_198576.4(AGRN):c.5410G>A (p.Val1804Met) rs754158999 0.00003
NM_198576.4(AGRN):c.5449C>T (p.Pro1817Ser) rs561181323 0.00003
NM_198576.4(AGRN):c.5483A>G (p.Asn1828Ser) rs753473191 0.00003
NM_198576.4(AGRN):c.5615G>A (p.Arg1872Gln) rs767076670 0.00003
NM_198576.4(AGRN):c.5645C>T (p.Thr1882Ile) rs540580770 0.00003
NM_198576.4(AGRN):c.5839G>A (p.Val1947Ile) rs745398279 0.00003
NM_198576.4(AGRN):c.5926G>A (p.Gly1976Ser) rs781607506 0.00003
NM_198576.4(AGRN):c.5998C>T (p.Pro2000Ser) rs745821776 0.00003
NM_198576.4(AGRN):c.6077C>T (p.Pro2026Leu) rs369944008 0.00003
NM_198576.4(AGRN):c.6091G>A (p.Glu2031Lys) rs1028610040 0.00003
NM_198576.4(AGRN):c.880G>A (p.Gly294Ser) rs947705663 0.00003
NM_198576.4(AGRN):c.941A>T (p.Asp314Val) rs1230475487 0.00003
NM_000080.4(CHRNE):c.1055G>A (p.Arg352His) rs764744220 0.00002
NM_000080.4(CHRNE):c.1075C>T (p.Pro359Ser) rs773187552 0.00002
NM_000080.4(CHRNE):c.1100C>T (p.Ser367Leu) rs753495337 0.00002
NM_000080.4(CHRNE):c.118C>T (p.Arg40Trp) rs754001856 0.00002
NM_000080.4(CHRNE):c.1211C>T (p.Thr404Ile) rs747853975 0.00002
NM_000080.4(CHRNE):c.1301C>T (p.Thr434Met) rs1049573372 0.00002
NM_000080.4(CHRNE):c.1434C>A (p.Tyr478Ter) rs763943642 0.00002
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu) rs575920043 0.00002
NM_000080.4(CHRNE):c.16C>T (p.Leu6Phe) rs746521766 0.00002
NM_000080.4(CHRNE):c.325G>A (p.Glu109Lys) rs779426416 0.00002
NM_000080.4(CHRNE):c.329T>C (p.Ile110Thr) rs1276426047 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000080.4(CHRNE):c.557G>A (p.Gly186Asp) rs1279921545 0.00002
NM_000080.4(CHRNE):c.569A>G (p.Asn190Ser) rs753756406 0.00002
NM_000080.4(CHRNE):c.705C>G (p.Ile235Met) rs748765369 0.00002
NM_000080.4(CHRNE):c.883C>T (p.Pro295Ser) rs61735425 0.00002
NM_000747.3(CHRNB1):c.1015A>G (p.Thr339Ala) rs775070102 0.00002
NM_000747.3(CHRNB1):c.1396G>A (p.Val466Ile) rs1046733309 0.00002
NM_000747.3(CHRNB1):c.1482G>T (p.Leu494Phe) rs747251351 0.00002
NM_000747.3(CHRNB1):c.26T>C (p.Leu9Pro) rs1157224283 0.00002
NM_000747.3(CHRNB1):c.314C>T (p.Ala105Val) rs866965972 0.00002
NM_000747.3(CHRNB1):c.499A>G (p.Met167Val) rs755445802 0.00002
NM_000747.3(CHRNB1):c.572G>A (p.Gly191Glu) rs756513117 0.00002
NM_000747.3(CHRNB1):c.608T>C (p.Ile203Thr) rs1186710796 0.00002
NM_000747.3(CHRNB1):c.914T>G (p.Val305Gly) rs372910299 0.00002
NM_000747.3(CHRNB1):c.955G>A (p.Val319Ile) rs753646298 0.00002
NM_001171613.2(PREPL):c.1042A>G (p.Ile348Val) rs893139776 0.00002
NM_001171613.2(PREPL):c.1509G>A (p.Met503Ile) rs753863367 0.00002
NM_001171613.2(PREPL):c.1562C>G (p.Pro521Arg) rs778123136 0.00002
NM_001171613.2(PREPL):c.172A>G (p.Asn58Asp) rs370680461 0.00002
NM_001171613.2(PREPL):c.1888G>A (p.Glu630Lys) rs892455452 0.00002
NM_001171613.2(PREPL):c.277T>A (p.Ser93Thr) rs373911326 0.00002
NM_001171613.2(PREPL):c.293T>C (p.Ile98Thr) rs370296906 0.00002
NM_001171613.2(PREPL):c.299T>C (p.Leu100Pro) rs755031960 0.00002
NM_001171613.2(PREPL):c.503A>G (p.Tyr168Cys) rs775248800 0.00002
NM_001171613.2(PREPL):c.517A>G (p.Ser173Gly) rs758838556 0.00002
NM_001171613.2(PREPL):c.747T>A (p.Asp249Glu) rs761270066 0.00002
NM_001244710.2(GFPT1):c.1879G>A (p.Val627Met) rs372725563 0.00002
NM_001244710.2(GFPT1):c.709T>G (p.Phe237Val) rs1463544616 0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) rs764519878 0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) rs751806317 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001382.4(DPAGT1):c.917+6C>T rs539220035 0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) rs780497256 0.00002
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) rs769661653 0.00002
NM_002334.4(LRP4):c.1435C>T (p.Arg479Cys) rs143207358 0.00002
NM_002334.4(LRP4):c.1472G>A (p.Arg491Gln) rs774924956 0.00002
NM_002334.4(LRP4):c.1480C>T (p.Arg494Cys) rs749530671 0.00002
NM_002334.4(LRP4):c.2747G>A (p.Arg916His) rs752315031 0.00002
NM_002334.4(LRP4):c.2767G>A (p.Gly923Ser) rs765716290 0.00002
NM_002334.4(LRP4):c.2861A>G (p.Tyr954Cys) rs775608977 0.00002
NM_002334.4(LRP4):c.2863G>A (p.Gly955Arg) rs772232191 0.00002
NM_002334.4(LRP4):c.290A>C (p.Glu97Ala) rs766174802 0.00002
NM_002334.4(LRP4):c.3701G>A (p.Arg1234Gln) rs754092006 0.00002
NM_002334.4(LRP4):c.3709G>T (p.Ala1237Ser) rs748719669 0.00002
NM_002334.4(LRP4):c.3895A>G (p.Met1299Val) rs764853604 0.00002
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His) rs779038341 0.00002
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) rs200506943 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5132A>G (p.Asn1711Ser) rs774058346 0.00002
NM_002334.4(LRP4):c.5179G>A (p.Ala1727Thr) rs914781633 0.00002
NM_002334.4(LRP4):c.5186G>C (p.Gly1729Ala) rs367608390 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.5654G>A (p.Arg1885Gln) rs779079160 0.00002
NM_002334.4(LRP4):c.5669A>G (p.Asp1890Gly) rs749482785 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_005055.5(RAPSN):c.1115A>G (p.Glu372Gly) rs768059942 0.00002
NM_005055.5(RAPSN):c.178A>C (p.Lys60Gln) rs1380619456 0.00002
NM_005055.5(RAPSN):c.360G>T (p.Gln120His) rs780338213 0.00002
NM_005055.5(RAPSN):c.475G>A (p.Ala159Thr) rs199506866 0.00002
NM_005055.5(RAPSN):c.574C>T (p.Leu192Phe) rs376041895 0.00002
NM_005055.5(RAPSN):c.650G>A (p.Arg217His) rs763058066 0.00002
NM_005592.4(MUSK):c.1014C>A (p.Asn338Lys) rs373175897 0.00002
NM_005592.4(MUSK):c.1148G>T (p.Ser383Ile) rs571312240 0.00002
NM_005592.4(MUSK):c.1230G>C (p.Trp410Cys) rs751972431 0.00002
NM_005592.4(MUSK):c.1363T>G (p.Tyr455Asp) rs369240171 0.00002
NM_005592.4(MUSK):c.1400C>T (p.Thr467Met) rs777107917 0.00002
NM_005592.4(MUSK):c.1657A>G (p.Met553Val) rs753213086 0.00002
NM_005592.4(MUSK):c.1798T>A (p.Tyr600Asn) rs147562871 0.00002
NM_005592.4(MUSK):c.1799A>G (p.Tyr600Cys) rs760793449 0.00002
NM_005592.4(MUSK):c.2014C>T (p.Pro672Ser) rs779042240 0.00002
NM_005592.4(MUSK):c.2077G>C (p.Gly693Arg) rs1216581384 0.00002
NM_005592.4(MUSK):c.2447G>A (p.Arg816Gln) rs764486887 0.00002
NM_005592.4(MUSK):c.2506C>T (p.Arg836Cys) rs769657813 0.00002
NM_005592.4(MUSK):c.2561G>A (p.Arg854Gln) rs754275653 0.00002
NM_005592.4(MUSK):c.2572C>T (p.Arg858Cys) rs200450921 0.00002
NM_005592.4(MUSK):c.373C>T (p.Arg125Cys) rs371157090 0.00002
NM_005592.4(MUSK):c.667G>A (p.Val223Ile) rs774463260 0.00002
NM_005592.4(MUSK):c.857A>G (p.Asn286Ser) rs747154421 0.00002
NM_005677.4(COLQ):c.1174G>A (p.Asp392Asn) rs749266800 0.00002
NM_005677.4(COLQ):c.282G>A (p.Met94Ile) rs764250328 0.00002
NM_005677.4(COLQ):c.393+3A>G rs1248479113 0.00002
NM_005677.4(COLQ):c.43C>T (p.Leu15Phe) rs762844921 0.00002
NM_005677.4(COLQ):c.476G>C (p.Gly159Ala) rs748461738 0.00002
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_005677.4(COLQ):c.517A>G (p.Met173Val) rs750324839 0.00002
NM_005677.4(COLQ):c.555G>A (p.Lys185=) rs750472473 0.00002
NM_005677.4(COLQ):c.569A>G (p.Glu190Gly) rs377364923 0.00002
NM_005677.4(COLQ):c.680G>A (p.Arg227Gln) rs764737302 0.00002
NM_005677.4(COLQ):c.769T>G (p.Ser257Ala) rs754017581 0.00002
NM_005677.4(COLQ):c.88G>A (p.Val30Ile) rs201234648 0.00002
NM_005677.4(COLQ):c.913G>A (p.Gly305Arg) rs1553634795 0.00002
NM_005677.4(COLQ):c.954+6G>A rs749018849 0.00002
NM_020549.5(CHAT):c.1148G>A (p.Arg383His) rs779919147 0.00002
NM_020549.5(CHAT):c.1186G>A (p.Val396Met) rs536359684 0.00002
NM_020549.5(CHAT):c.157G>A (p.Gly53Arg) rs968331105 0.00002
NM_020549.5(CHAT):c.1661A>G (p.Tyr554Cys) rs778572568 0.00002
NM_020549.5(CHAT):c.1784A>T (p.Glu595Val) rs190968891 0.00002
NM_020549.5(CHAT):c.1840-9A>G rs1279554995 0.00002
NM_020549.5(CHAT):c.2185G>A (p.Glu729Lys) rs751461280 0.00002
NM_020549.5(CHAT):c.230A>G (p.His77Arg) rs1158850299 0.00002
NM_020549.5(CHAT):c.283G>T (p.Ala95Ser) rs1429339523 0.00002
NM_020549.5(CHAT):c.387T>C (p.Ser129=) rs143723043 0.00002
NM_020549.5(CHAT):c.394C>T (p.Pro132Ser) rs1323843750 0.00002
NM_020549.5(CHAT):c.707C>T (p.Ala236Val) rs770250348 0.00002
NM_020549.5(CHAT):c.890T>C (p.Ile297Thr) rs1373162548 0.00002
NM_020549.5(CHAT):c.92T>G (p.Val31Gly) rs1016283273 0.00002
NM_020549.5(CHAT):c.94C>T (p.Arg32Trp) rs1464103196 0.00002
NM_021815.5(SLC5A7):c.1113+6A>G rs766515861 0.00002
NM_021815.5(SLC5A7):c.1132G>A (p.Val378Ile) rs763020957 0.00002
NM_021815.5(SLC5A7):c.1246G>A (p.Val416Ile) rs759833850 0.00002
NM_021815.5(SLC5A7):c.1487A>G (p.Tyr496Cys) rs1001889637 0.00002
NM_021815.5(SLC5A7):c.1630C>T (p.Leu544Phe) rs780371731 0.00002
NM_021815.5(SLC5A7):c.472G>A (p.Asp158Asn) rs768776054 0.00002
NM_021815.5(SLC5A7):c.568G>A (p.Val190Ile) rs541031936 0.00002
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236 0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His) rs763754023 0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu) rs777441526 0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln) rs776974668 0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp) rs376627887 0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val) rs774204697 0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His) rs201729325 0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe) rs1229029511 0.00002
NM_130811.4(SNAP25):c.356G>A (p.Arg119His) rs774645750 0.00002
NM_130811.4(SNAP25):c.408-3C>T rs1385382718 0.00002
NM_144988.4(ALG14):c.16G>A (p.Val6Ile) rs756921157 0.00002
NM_144988.4(ALG14):c.476T>C (p.Leu159Pro) rs746850097 0.00002
NM_144988.4(ALG14):c.560T>C (p.Ile187Thr) rs775514355 0.00002
NM_144988.4(ALG14):c.641G>A (p.Arg214Gln) rs767036165 0.00002
NM_173660.5(DOK7):c.1169C>T (p.Pro390Leu) rs1418197383 0.00002
NM_173660.5(DOK7):c.1180G>A (p.Glu394Lys) rs751691265 0.00002
NM_173660.5(DOK7):c.1226G>A (p.Arg409His) rs377528603 0.00002
NM_173660.5(DOK7):c.1244C>G (p.Pro415Arg) rs142510199 0.00002
NM_173660.5(DOK7):c.1289C>T (p.Ala430Val) rs745414274 0.00002
NM_173660.5(DOK7):c.1417G>A (p.Glu473Lys) rs1359635065 0.00002
NM_173660.5(DOK7):c.1447G>T (p.Gly483Trp) rs915179362 0.00002
NM_173660.5(DOK7):c.326G>A (p.Gly109Asp) rs1319317420 0.00002
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu) rs772577244 0.00002
NM_173660.5(DOK7):c.623G>T (p.Gly208Val) rs572714394 0.00002
NM_173660.5(DOK7):c.65G>A (p.Arg22Lys) rs756962738 0.00002
NM_173660.5(DOK7):c.689G>A (p.Arg230His) rs760941977 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_173660.5(DOK7):c.847G>A (p.Ala283Thr) rs139429423 0.00002
NM_173660.5(DOK7):c.86C>T (p.Pro29Leu) rs1478257270 0.00002
NM_173660.5(DOK7):c.914A>G (p.Gln305Arg) rs747816956 0.00002
NM_173660.5(DOK7):c.97G>T (p.Ala33Ser) rs1425852835 0.00002
NM_198576.4(AGRN):c.1223G>A (p.Arg408His) rs764063704 0.00002
NM_198576.4(AGRN):c.1282G>A (p.Val428Met) rs566439735 0.00002
NM_198576.4(AGRN):c.1519G>A (p.Val507Ile) rs753019974 0.00002
NM_198576.4(AGRN):c.1534G>A (p.Ala512Thr) rs780205618 0.00002
NM_198576.4(AGRN):c.1535C>T (p.Ala512Val) rs375076629 0.00002
NM_198576.4(AGRN):c.1607G>A (p.Arg536His) rs369083997 0.00002
NM_198576.4(AGRN):c.1696G>A (p.Val566Met) rs754169694 0.00002
NM_198576.4(AGRN):c.1718C>T (p.Thr573Met) rs757402635 0.00002
NM_198576.4(AGRN):c.1769G>A (p.Ser590Asn) rs199963653 0.00002
NM_198576.4(AGRN):c.1847G>A (p.Gly616Glu) rs773393723 0.00002
NM_198576.4(AGRN):c.1880C>T (p.Pro627Leu) rs749918192 0.00002
NM_198576.4(AGRN):c.1930G>A (p.Glu644Lys) rs767435056 0.00002
NM_198576.4(AGRN):c.1995G>T (p.Glu665Asp) rs752339788 0.00002
NM_198576.4(AGRN):c.2055G>C (p.Glu685Asp) rs954560285 0.00002
NM_198576.4(AGRN):c.2101G>A (p.Gly701Arg) rs147195498 0.00002
NM_198576.4(AGRN):c.2147C>T (p.Pro716Leu) rs535766401 0.00002
NM_198576.4(AGRN):c.2230G>A (p.Val744Ile) rs774546870 0.00002
NM_198576.4(AGRN):c.2314G>A (p.Gly772Ser) rs1038647532 0.00002
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr) rs540467706 0.00002
NM_198576.4(AGRN):c.2350G>A (p.Val784Met) rs139778596 0.00002
NM_198576.4(AGRN):c.2366G>A (p.Cys789Tyr) rs760257579 0.00002
NM_198576.4(AGRN):c.2404G>A (p.Gly802Ser) rs762481817 0.00002
NM_198576.4(AGRN):c.2696C>T (p.Ala899Val) rs201460027 0.00002
NM_198576.4(AGRN):c.2732G>A (p.Arg911Gln) rs773144997 0.00002
NM_198576.4(AGRN):c.3056C>T (p.Pro1019Leu) rs756489447 0.00002
NM_198576.4(AGRN):c.3068G>A (p.Arg1023Gln) rs775442981 0.00002
NM_198576.4(AGRN):c.3121G>A (p.Val1041Met) rs779698930 0.00002
NM_198576.4(AGRN):c.3409G>A (p.Val1137Ile) rs778480770 0.00002
NM_198576.4(AGRN):c.3460A>G (p.Met1154Val) rs371617418 0.00002
NM_198576.4(AGRN):c.3655G>A (p.Val1219Met) rs770304448 0.00002
NM_198576.4(AGRN):c.3670C>T (p.Leu1224Phe) rs753681540 0.00002
NM_198576.4(AGRN):c.3694C>T (p.Arg1232Cys) rs777331097 0.00002
NM_198576.4(AGRN):c.3715C>T (p.Arg1239Trp) rs571142975 0.00002
NM_198576.4(AGRN):c.3731A>G (p.His1244Arg) rs759452317 0.00002
NM_198576.4(AGRN):c.4202G>A (p.Arg1401Gln) rs777248655 0.00002
NM_198576.4(AGRN):c.4213C>T (p.Pro1405Ser) rs777176463 0.00002
NM_198576.4(AGRN):c.4313C>T (p.Ser1438Leu) rs1460707518 0.00002
NM_198576.4(AGRN):c.4802C>T (p.Ala1601Val) rs749035094 0.00002
NM_198576.4(AGRN):c.4811G>A (p.Arg1604His) rs772811721 0.00002
NM_198576.4(AGRN):c.4869C>A (p.Phe1623Leu) rs748076659 0.00002
NM_198576.4(AGRN):c.4879+9C>T rs373653720 0.00002
NM_198576.4(AGRN):c.4894G>A (p.Gly1632Ser) rs774044262 0.00002
NM_198576.4(AGRN):c.4911G>A (p.Leu1637=) rs185377620 0.00002
NM_198576.4(AGRN):c.503C>T (p.Pro168Leu) rs774527175 0.00002
NM_198576.4(AGRN):c.5096G>A (p.Arg1699His) rs777269140 0.00002
NM_198576.4(AGRN):c.5113G>A (p.Asp1705Asn) rs563299889 0.00002
NM_198576.4(AGRN):c.5152C>A (p.Pro1718Thr) rs375621931 0.00002
NM_198576.4(AGRN):c.5261A>C (p.His1754Pro) rs1023027486 0.00002
NM_198576.4(AGRN):c.5285C>T (p.Pro1762Leu) rs764764048 0.00002
NM_198576.4(AGRN):c.5339T>C (p.Val1780Ala) rs369070635 0.00002
NM_198576.4(AGRN):c.5387G>A (p.Arg1796His) rs774881136 0.00002
NM_198576.4(AGRN):c.5422G>A (p.Val1808Met) rs1356478300 0.00002
NM_198576.4(AGRN):c.5428G>A (p.Val1810Ile) rs375518121 0.00002
NM_198576.4(AGRN):c.5459G>A (p.Arg1820Gln) rs1170138989 0.00002
NM_198576.4(AGRN):c.5465C>T (p.Ser1822Leu) rs150946585 0.00002
NM_198576.4(AGRN):c.5549C>T (p.Pro1850Leu) rs374138541 0.00002
NM_198576.4(AGRN):c.554C>G (p.Pro185Arg) rs1439165940 0.00002
NM_198576.4(AGRN):c.5556C>T (p.Cys1852=) rs538293035 0.00002
NM_198576.4(AGRN):c.5590G>A (p.Val1864Met) rs774612575 0.00002
NM_198576.4(AGRN):c.5653G>A (p.Glu1885Lys) rs374127077 0.00002
NM_198576.4(AGRN):c.574C>T (p.Arg192Trp) rs1056434535 0.00002
NM_198576.4(AGRN):c.5852G>A (p.Arg1951His) rs141914965 0.00002
NM_198576.4(AGRN):c.5936C>T (p.Pro1979Leu) rs750764002 0.00002
NM_198576.4(AGRN):c.5988_6008dup (p.Pro1997_Pro2003dup) rs747557413 0.00002
NM_198576.4(AGRN):c.5989C>T (p.Pro1997Ser) rs748233230 0.00002
NM_198576.4(AGRN):c.6055G>A (p.Asp2019Asn) rs755342940 0.00002
NM_198576.4(AGRN):c.689A>G (p.Gln230Arg) rs767155884 0.00002
NM_198576.4(AGRN):c.836C>T (p.Ala279Val) rs747952589 0.00002
NM_198576.4(AGRN):c.910G>A (p.Ala304Thr) rs764915525 0.00002
NM_198576.4(AGRN):c.955C>T (p.Pro319Ser) rs1445446461 0.00002
NM_198576.4(AGRN):c.95C>T (p.Pro32Leu) rs1194105483 0.00002
NM_000080.4(CHRNE):c.-96C>T rs748144899 0.00001
NM_000080.4(CHRNE):c.1003A>G (p.Thr335Ala) rs1216965153 0.00001
NM_000080.4(CHRNE):c.1027C>T (p.Arg343Cys) rs1422523453 0.00001
NM_000080.4(CHRNE):c.1030C>G (p.His344Asp) rs886053125 0.00001
NM_000080.4(CHRNE):c.1052C>T (p.Pro351Leu) rs1168592296 0.00001
NM_000080.4(CHRNE):c.1066T>C (p.Ser356Pro) rs954120463 0.00001
NM_000080.4(CHRNE):c.1078C>T (p.Pro360Ser) rs998988224 0.00001
NM_000080.4(CHRNE):c.1093G>A (p.Ala365Thr) rs780327519 0.00001
NM_000080.4(CHRNE):c.1141G>A (p.Ala381Thr) rs547989166 0.00001
NM_000080.4(CHRNE):c.1255G>A (p.Glu419Lys) rs754975887 0.00001
NM_000080.4(CHRNE):c.1261C>T (p.Arg421Cys) rs369709668 0.00001
NM_000080.4(CHRNE):c.1279G>A (p.Val427Met) rs780122731 0.00001
NM_000080.4(CHRNE):c.1288G>A (p.Val430Met) rs1348466102 0.00001
NM_000080.4(CHRNE):c.1323C>T (p.Gly441=) rs758517310 0.00001
NM_000080.4(CHRNE):c.1370T>C (p.Ile457Thr) rs1361578187 0.00001
NM_000080.4(CHRNE):c.1424T>A (p.Leu475His) rs764935677 0.00001
NM_000080.4(CHRNE):c.1453C>T (p.Leu485Phe) rs1085307690 0.00001
NM_000080.4(CHRNE):c.1471A>G (p.Ile491Val) rs753512613 0.00001
NM_000080.4(CHRNE):c.26T>G (p.Leu9Arg) rs1344336890 0.00001
NM_000080.4(CHRNE):c.311T>C (p.Leu104Pro) rs772495418 0.00001
NM_000080.4(CHRNE):c.345T>A (p.Asn115Lys) rs1388515362 0.00001
NM_000080.4(CHRNE):c.359T>C (p.Phe120Ser) rs771356927 0.00001
NM_000080.4(CHRNE):c.362G>T (p.Gly121Val) rs746582621 0.00001
NM_000080.4(CHRNE):c.373G>A (p.Asp125Asn) rs1056080125 0.00001
NM_000080.4(CHRNE):c.428T>C (p.Ile143Thr) rs1484300953 0.00001
NM_000080.4(CHRNE):c.46+4_46+8del rs1388295687 0.00001
NM_000080.4(CHRNE):c.46G>A (p.Gly16Ser) rs764552360 0.00001
NM_000080.4(CHRNE):c.520G>A (p.Glu174Lys) rs1597620368 0.00001
NM_000080.4(CHRNE):c.544G>C (p.Val182Leu) rs1198430909 0.00001
NM_000080.4(CHRNE):c.580A>T (p.Ile194Phe) rs1020146692 0.00001
NM_000080.4(CHRNE):c.637G>A (p.Val213Met) rs1174721586 0.00001
NM_000080.4(CHRNE):c.646C>T (p.Arg216Cys) rs577641512 0.00001
NM_000080.4(CHRNE):c.647G>A (p.Arg216His) rs1359029030 0.00001
NM_000080.4(CHRNE):c.654C>G (p.His218Gln) rs751388919 0.00001
NM_000080.4(CHRNE):c.691A>G (p.Ile231Val) rs1226552673 0.00001
NM_000080.4(CHRNE):c.745G>A (p.Val249Met) rs757421529 0.00001
NM_000080.4(CHRNE):c.76C>T (p.Arg26Cys) rs773131873 0.00001
NM_000080.4(CHRNE):c.856T>G (p.Phe286Val) rs756844933 0.00001
NM_000747.3(CHRNB1):c.1004G>A (p.Arg335His) rs746417364 0.00001
NM_000747.3(CHRNB1):c.1033T>G (p.Trp345Gly) rs1909002019 0.00001
NM_000747.3(CHRNB1):c.1040G>A (p.Arg347His) rs371142002 0.00001
NM_000747.3(CHRNB1):c.1139G>C (p.Gly380Ala) rs1377352531 0.00001
NM_000747.3(CHRNB1):c.1177C>G (p.Arg393Gly) rs2069939028 0.00001
NM_000747.3(CHRNB1):c.1210C>T (p.Pro404Ser) rs1199729169 0.00001
NM_000747.3(CHRNB1):c.1418G>A (p.Trp473Ter) rs772731018 0.00001
NM_000747.3(CHRNB1):c.1441G>T (p.Val481Phe) rs1205517699 0.00001
NM_000747.3(CHRNB1):c.1448C>T (p.Thr483Ile) rs369847025 0.00001
NM_000747.3(CHRNB1):c.1472C>A (p.Thr491Lys) rs750490746 0.00001
NM_000747.3(CHRNB1):c.221G>T (p.Ser74Ile) rs752436749 0.00001
NM_000747.3(CHRNB1):c.236T>C (p.Leu79Ser) rs142801700 0.00001
NM_000747.3(CHRNB1):c.240C>G (p.Asp80Glu) rs373533921 0.00001
NM_000747.3(CHRNB1):c.302T>C (p.Leu101Pro) rs1028687450 0.00001
NM_000747.3(CHRNB1):c.343C>G (p.Leu115Val) rs757084012 0.00001
NM_000747.3(CHRNB1):c.373G>A (p.Val125Met) rs148584502 0.00001
NM_000747.3(CHRNB1):c.44C>T (p.Ala15Val) rs75926342 0.00001
NM_000747.3(CHRNB1):c.472T>C (p.Phe158Leu) rs961261483 0.00001
NM_000747.3(CHRNB1):c.530C>T (p.Ser177Leu) rs760659917 0.00001
NM_000747.3(CHRNB1):c.532G>C (p.Glu178Gln) rs1475474681 0.00001
NM_000747.3(CHRNB1):c.56C>A (p.Pro19Gln) rs759176796 0.00001
NM_000747.3(CHRNB1):c.5C>T (p.Thr2Ile) rs567015720 0.00001
NM_000747.3(CHRNB1):c.646C>T (p.Arg216Trp) rs780988754 0.00001
NM_000747.3(CHRNB1):c.706A>C (p.Ile236Leu) rs1908763989 0.00001
NM_000747.3(CHRNB1):c.724C>T (p.Arg242Cys) rs200962487 0.00001
NM_000747.3(CHRNB1):c.86G>C (p.Arg29Pro) rs767799511 0.00001
NM_000747.3(CHRNB1):c.898G>C (p.Glu300Gln) rs945086307 0.00001
NM_000747.3(CHRNB1):c.938T>C (p.Met313Thr) rs375505960 0.00001
NM_000747.3(CHRNB1):c.983T>C (p.Val328Ala) rs1247175818 0.00001
NM_001171613.2(PREPL):c.-15C>A rs747135582 0.00001
NM_001171613.2(PREPL):c.-49+1674A>G rs1677455092 0.00001
NM_001171613.2(PREPL):c.-49+1678C>G rs1217582584 0.00001
NM_001171613.2(PREPL):c.-49+1707A>G rs767151252 0.00001
NM_001171613.2(PREPL):c.-49+1744A>G rs753994518 0.00001
NM_001171613.2(PREPL):c.-49+1839T>C rs375878651 0.00001
NM_001171613.2(PREPL):c.-49+1857A>G rs1677431287 0.00001
NM_001171613.2(PREPL):c.1000G>T (p.Ala334Ser) rs778521381 0.00001
NM_001171613.2(PREPL):c.1055G>C (p.Ser352Thr) rs182129466 0.00001
NM_001171613.2(PREPL):c.1058G>A (p.Arg353His) rs766402014 0.00001
NM_001171613.2(PREPL):c.1069C>G (p.Leu357Val) rs1357123285 0.00001
NM_001171613.2(PREPL):c.1086+4G>A rs781546038 0.00001
NM_001171613.2(PREPL):c.1184T>C (p.Met395Thr) rs763916560 0.00001
NM_001171613.2(PREPL):c.1185G>A (p.Met395Ile) rs762704106 0.00001
NM_001171613.2(PREPL):c.1216C>T (p.Arg406Trp) rs762344284 0.00001
NM_001171613.2(PREPL):c.1225G>T (p.Val409Leu) rs1287814553 0.00001
NM_001171613.2(PREPL):c.124C>T (p.Arg42Cys) rs367690689 0.00001
NM_001171613.2(PREPL):c.1256A>G (p.His419Arg) rs1470203044 0.00001
NM_001171613.2(PREPL):c.1262G>A (p.Arg421Gln) rs754572953 0.00001
NM_001171613.2(PREPL):c.1300G>A (p.Gly434Ser) rs1240292748 0.00001
NM_001171613.2(PREPL):c.1368A>C (p.Gln456His) rs760125213 0.00001
NM_001171613.2(PREPL):c.1396C>G (p.Leu466Val) rs772025933 0.00001
NM_001171613.2(PREPL):c.1406T>G (p.Phe469Cys) rs749238316 0.00001
NM_001171613.2(PREPL):c.1546G>A (p.Glu516Lys) rs1367878747 0.00001
NM_001171613.2(PREPL):c.1558A>C (p.Asn520His) rs371835756 0.00001
NM_001171613.2(PREPL):c.1591A>G (p.Ile531Val) rs1673166427 0.00001
NM_001171613.2(PREPL):c.1610A>G (p.Tyr537Cys) rs761490421 0.00001
NM_001171613.2(PREPL):c.1630-3del rs1406333731 0.00001
NM_001171613.2(PREPL):c.1631A>T (p.His544Leu) rs768704646 0.00001
NM_001171613.2(PREPL):c.163G>C (p.Val55Leu) rs1422302131 0.00001
NM_001171613.2(PREPL):c.1673G>A (p.Arg558Gln) rs140355063 0.00001
NM_001171613.2(PREPL):c.1685A>T (p.Lys562Ile) rs377760743 0.00001
NM_001171613.2(PREPL):c.1711C>G (p.Leu571Val) rs1282041334 0.00001
NM_001171613.2(PREPL):c.1748G>A (p.Gly583Asp) rs752333096 0.00001
NM_001171613.2(PREPL):c.1753+5G>A rs1380245814 0.00001
NM_001171613.2(PREPL):c.1796G>A (p.Gly599Asp) rs537911061 0.00001
NM_001171613.2(PREPL):c.1808T>C (p.Ile603Thr) rs748104886 0.00001
NM_001171613.2(PREPL):c.1881T>A (p.Ser627Arg) rs1310992094 0.00001
NM_001171613.2(PREPL):c.217A>G (p.Arg73Gly) rs375731883 0.00001
NM_001171613.2(PREPL):c.22A>G (p.Arg8Gly) rs137924736 0.00001
NM_001171613.2(PREPL):c.301A>G (p.Ser101Gly) rs779895293 0.00001
NM_001171613.2(PREPL):c.313G>A (p.Val105Ile) rs763621305 0.00001
NM_001171613.2(PREPL):c.318G>A (p.Met106Ile) rs1231458004 0.00001
NM_001171613.2(PREPL):c.404A>C (p.Asn135Thr) rs1358654485 0.00001
NM_001171613.2(PREPL):c.419A>T (p.Asp140Val) rs367992937 0.00001
NM_001171613.2(PREPL):c.422T>G (p.Val141Gly) rs1675330234 0.00001
NM_001171613.2(PREPL):c.425A>G (p.Tyr142Cys) rs778744293 0.00001
NM_001171613.2(PREPL):c.451C>T (p.Arg151Cys) rs752120139 0.00001
NM_001171613.2(PREPL):c.460C>T (p.Arg154Cys) rs146183409 0.00001
NM_001171613.2(PREPL):c.538A>G (p.Ile180Val) rs1266141014 0.00001
NM_001171613.2(PREPL):c.592G>A (p.Asp198Asn) rs748610072 0.00001
NM_001171613.2(PREPL):c.644A>G (p.Glu215Gly) rs757445054 0.00001
NM_001171613.2(PREPL):c.649A>G (p.Arg217Gly) rs751520171 0.00001
NM_001171613.2(PREPL):c.664T>C (p.Tyr222His) rs764951966 0.00001
NM_001171613.2(PREPL):c.67A>G (p.Asn23Asp) rs369131230 0.00001
NM_001171613.2(PREPL):c.76G>T (p.Val26Phe) rs1241633455 0.00001
NM_001171613.2(PREPL):c.7G>A (p.Ala3Thr) rs779882139 0.00001
NM_001171613.2(PREPL):c.814C>G (p.Leu272Val) rs1209850032 0.00001
NM_001171613.2(PREPL):c.818T>C (p.Phe273Ser) rs1347512792 0.00001
NM_001171613.2(PREPL):c.871T>A (p.Ser291Thr) rs755882009 0.00001
NM_001171613.2(PREPL):c.961T>C (p.Ser321Pro) rs1367770744 0.00001
NM_001244710.2(GFPT1):c.1001T>A (p.Ile334Asn) rs1285177343 0.00001
NM_001244710.2(GFPT1):c.118G>T (p.Val40Leu) rs1247230551 0.00001
NM_001244710.2(GFPT1):c.133G>A (p.Gly45Ser) rs914867145 0.00001
NM_001244710.2(GFPT1):c.1354C>T (p.Arg452Cys) rs759081713 0.00001
NM_001244710.2(GFPT1):c.1483G>T (p.Ala495Ser) rs1438504838 0.00001
NM_001244710.2(GFPT1):c.1501G>A (p.Val501Ile) rs1279403583 0.00001
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala) rs988021644 0.00001
NM_001244710.2(GFPT1):c.1624G>T (p.Asp542Tyr) rs1308915445 0.00001
NM_001244710.2(GFPT1):c.1919A>G (p.Lys640Arg) rs772640415 0.00001
NM_001244710.2(GFPT1):c.1962G>C (p.Lys654Asn) rs368208403 0.00001
NM_001244710.2(GFPT1):c.2055+3A>G rs937857366 0.00001
NM_001244710.2(GFPT1):c.245A>G (p.Asp82Gly) rs192925673 0.00001
NM_001244710.2(GFPT1):c.275C>G (p.Ala92Gly) rs755890938 0.00001
NM_001244710.2(GFPT1):c.484A>C (p.Asn162His) rs987906924 0.00001
NM_001244710.2(GFPT1):c.488G>A (p.Arg163Gln) rs1034928233 0.00001
NM_001244710.2(GFPT1):c.589C>G (p.Gln197Glu) rs773850508 0.00001
NM_001244710.2(GFPT1):c.606-3C>T rs1286081479 0.00001
NM_001244710.2(GFPT1):c.670A>G (p.Ile224Val) rs1489383761 0.00001
NM_001244710.2(GFPT1):c.883G>A (p.Glu295Lys) rs764200601 0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) rs376996734 0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) rs555841797 0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg) rs1301940016 0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) rs187919120 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) rs1272156856 0.00001
NM_001382.4(DPAGT1):c.161+6C>T rs762402071 0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) rs1041735569 0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) rs1234809605 0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg) rs759595271 0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) rs368415403 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) rs532412952 0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser) rs1229553796 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) rs1328286236 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) rs373632825 0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) rs1053302601 0.00001
NM_001382.4(DPAGT1):c.729-10C>A rs1413156382 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys) rs776632995 0.00001
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) rs767110056 0.00001
NM_002334.4(LRP4):c.1063G>A (p.Glu355Lys) rs1446754894 0.00001
NM_002334.4(LRP4):c.1154G>A (p.Arg385Gln) rs772931812 0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met) rs776484311 0.00001
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) rs1032020389 0.00001
NM_002334.4(LRP4):c.1438G>C (p.Glu480Gln) rs201502598 0.00001
NM_002334.4(LRP4):c.1510G>A (p.Glu504Lys) rs760105990 0.00001
NM_002334.4(LRP4):c.1538C>G (p.Pro513Arg) rs748357296 0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) rs371763360 0.00001
NM_002334.4(LRP4):c.1696G>A (p.Gly566Ser) rs1941453950 0.00001
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn) rs779387728 0.00001
NM_002334.4(LRP4):c.1829G>A (p.Arg610His) rs17848218 0.00001
NM_002334.4(LRP4):c.1831C>T (p.Arg611Cys) rs771793515 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.2216-3C>T rs555994387 0.00001
NM_002334.4(LRP4):c.2243G>A (p.Arg748Gln) rs545112106 0.00001
NM_002334.4(LRP4):c.2317C>T (p.Arg773Cys) rs376444422 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2570A>C (p.Asn857Thr) rs754708237 0.00001
NM_002334.4(LRP4):c.2593G>A (p.Val865Met) rs765202931 0.00001
NM_002334.4(LRP4):c.2609G>A (p.Gly870Asp) rs776260999 0.00001
NM_002334.4(LRP4):c.2746C>T (p.Arg916Cys) rs147259655 0.00001
NM_002334.4(LRP4):c.2917C>T (p.Arg973Trp) rs368011278 0.00001
NM_002334.4(LRP4):c.2935C>T (p.Arg979Trp) rs757565682 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu) rs556889686 0.00001
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp) rs775191643 0.00001
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) rs770071302 0.00001
NM_002334.4(LRP4):c.3473G>A (p.Arg1158Gln) rs150306458 0.00001
NM_002334.4(LRP4):c.3537G>T (p.Gly1179=) rs767837337 0.00001
NM_002334.4(LRP4):c.3555C>G (p.Asp1185Glu) rs1189743163 0.00001
NM_002334.4(LRP4):c.3580C>T (p.Arg1194Trp) rs746573834 0.00001
NM_002334.4(LRP4):c.3586G>A (p.Gly1196Arg) rs745459741 0.00001
NM_002334.4(LRP4):c.3607G>A (p.Ala1203Thr) rs752888601 0.00001
NM_002334.4(LRP4):c.3699+5G>C rs745544336 0.00001
NM_002334.4(LRP4):c.3731A>G (p.Asn1244Ser) rs376299085 0.00001
NM_002334.4(LRP4):c.3830G>A (p.Arg1277His) rs746136135 0.00001
NM_002334.4(LRP4):c.3839A>G (p.Lys1280Arg) rs371205300 0.00001
NM_002334.4(LRP4):c.3865G>A (p.Val1289Met) rs756641717 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr) rs1940969409 0.00001
NM_002334.4(LRP4):c.4109A>G (p.Asp1370Gly) rs1565782159 0.00001
NM_002334.4(LRP4):c.4134T>A (p.His1378Gln) rs763442262 0.00001
NM_002334.4(LRP4):c.4154A>G (p.Asn1385Ser) rs768733310 0.00001
NM_002334.4(LRP4):c.4222G>A (p.Val1408Ile) rs777975583 0.00001
NM_002334.4(LRP4):c.4250G>A (p.Ser1417Asn) rs758719937 0.00001
NM_002334.4(LRP4):c.4270G>A (p.Gly1424Arg) rs1026948492 0.00001
NM_002334.4(LRP4):c.429T>C (p.Cys143=) rs1486932718 0.00001
NM_002334.4(LRP4):c.4369C>G (p.Leu1457Val) rs571418643 0.00001
NM_002334.4(LRP4):c.4379C>T (p.Ser1460Phe) rs61738061 0.00001
NM_002334.4(LRP4):c.4385G>A (p.Arg1462His) rs777932389 0.00001
NM_002334.4(LRP4):c.4432G>C (p.Val1478Leu) rs764880010 0.00001
NM_002334.4(LRP4):c.446C>T (p.Ser149Phe) rs1239578585 0.00001
NM_002334.4(LRP4):c.4493G>A (p.Arg1498Gln) rs764079526 0.00001
NM_002334.4(LRP4):c.4525C>T (p.Leu1509Phe) rs1940914910 0.00001
NM_002334.4(LRP4):c.4544G>C (p.Gly1515Ala) rs758635404 0.00001
NM_002334.4(LRP4):c.4579C>T (p.Arg1527Cys) rs756059712 0.00001
NM_002334.4(LRP4):c.461G>A (p.Arg154His) rs748199837 0.00001
NM_002334.4(LRP4):c.4634A>G (p.Asn1545Ser) rs142352845 0.00001
NM_002334.4(LRP4):c.4741C>T (p.Arg1581Cys) rs771144609 0.00001
NM_002334.4(LRP4):c.4763G>A (p.Arg1588Gln) rs746746234 0.00001
NM_002334.4(LRP4):c.4829G>A (p.Arg1610Gln) rs756543033 0.00001
NM_002334.4(LRP4):c.4943G>C (p.Cys1648Ser) rs769497270 0.00001
NM_002334.4(LRP4):c.4981G>A (p.Ala1661Thr) rs768284053 0.00001
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys) rs528376810 0.00001
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) rs1241649761 0.00001
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr) rs776705313 0.00001
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) rs1208850907 0.00001
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp) rs1208569811 0.00001
NM_002334.4(LRP4):c.5428G>A (p.Val1810Ile) rs779299308 0.00001
NM_002334.4(LRP4):c.547C>T (p.Pro183Ser) rs765567296 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.5618G>A (p.Cys1873Tyr) rs1312872252 0.00001
NM_002334.4(LRP4):c.563C>T (p.Ala188Val) rs772245536 0.00001
NM_002334.4(LRP4):c.65G>T (p.Ser22Ile) rs777229906 0.00001
NM_002334.4(LRP4):c.688C>G (p.Pro230Ala) rs773770584 0.00001
NM_002334.4(LRP4):c.746G>A (p.Arg249His) rs780066978 0.00001
NM_002334.4(LRP4):c.806T>C (p.Met269Thr) rs776417067 0.00001
NM_002334.4(LRP4):c.812C>T (p.Thr271Met) rs768904639 0.00001
NM_002334.4(LRP4):c.851G>A (p.Arg284His) rs369307795 0.00001
NM_002334.4(LRP4):c.963T>A (p.Asn321Lys) rs1257559745 0.00001
NM_002334.4(LRP4):c.974T>C (p.Ile325Thr) rs753709386 0.00001
NM_005055.5(RAPSN):c.1010G>A (p.Arg337His) rs768445220 0.00001
NM_005055.5(RAPSN):c.1028G>A (p.Arg343Gln) rs757902272 0.00001
NM_005055.5(RAPSN):c.1036C>T (p.Arg346Trp) rs529117281 0.00001
NM_005055.5(RAPSN):c.1076C>T (p.Thr359Met) rs768394140 0.00001
NM_005055.5(RAPSN):c.1081C>G (p.Leu361Val) rs1231669536 0.00001
NM_005055.5(RAPSN):c.1102G>A (p.Glu368Lys) rs756519962 0.00001
NM_005055.5(RAPSN):c.1113C>T (p.Gly371=) rs150503333 0.00001
NM_005055.5(RAPSN):c.1181A>G (p.Asn394Ser) rs370123138 0.00001
NM_005055.5(RAPSN):c.1207C>T (p.Arg403Cys) rs1165174416 0.00001
NM_005055.5(RAPSN):c.1216T>A (p.Ser406Thr) rs1486159580 0.00001
NM_005055.5(RAPSN):c.161C>T (p.Ser54Leu) rs750772292 0.00001
NM_005055.5(RAPSN):c.220C>T (p.Arg74Trp) rs778157857 0.00001
NM_005055.5(RAPSN):c.221G>A (p.Arg74Gln) rs568433059 0.00001
NM_005055.5(RAPSN):c.22C>A (p.Gln8Lys) rs11556408 0.00001
NM_005055.5(RAPSN):c.238G>A (p.Asp80Asn) rs781724566 0.00001
NM_005055.5(RAPSN):c.310T>G (p.Ser104Ala) rs770016019 0.00001
NM_005055.5(RAPSN):c.317G>A (p.Cys106Tyr) rs1341207988 0.00001
NM_005055.5(RAPSN):c.328C>T (p.Leu110Phe) rs1164228546 0.00001
NM_005055.5(RAPSN):c.33G>C (p.Glu11Asp) rs1047615316 0.00001
NM_005055.5(RAPSN):c.40C>T (p.Leu14Phe) rs1256816164 0.00001
NM_005055.5(RAPSN):c.43C>A (p.Gln15Lys) rs1326936118 0.00001
NM_005055.5(RAPSN):c.451C>T (p.Arg151Cys) rs148600999 0.00001
NM_005055.5(RAPSN):c.479T>C (p.Met160Thr) rs780985479 0.00001
NM_005055.5(RAPSN):c.538G>A (p.Glu180Lys) rs1452482859 0.00001
NM_005055.5(RAPSN):c.59A>T (p.Asn20Ile) rs747627949 0.00001
NM_005055.5(RAPSN):c.613C>T (p.Arg205Trp) rs756738642 0.00001
NM_005055.5(RAPSN):c.649C>T (p.Arg217Cys) rs766845970 0.00001
NM_005055.5(RAPSN):c.662G>A (p.Arg221His) rs1377574572 0.00001
NM_005055.5(RAPSN):c.690+14G>T rs752360126 0.00001
NM_005055.5(RAPSN):c.725G>C (p.Arg242Pro) rs780963721 0.00001
NM_005055.5(RAPSN):c.760G>A (p.Asp254Asn) rs750888238 0.00001
NM_005055.5(RAPSN):c.769C>T (p.Arg257Trp) rs753956536 0.00001
NM_005055.5(RAPSN):c.781G>A (p.Asp261Asn) rs762865029 0.00001
NM_005055.5(RAPSN):c.82G>T (p.Val28Leu) rs199984356 0.00001
NM_005055.5(RAPSN):c.912+6G>A rs781362707 0.00001
NM_005592.4(MUSK):c.1063G>A (p.Ala355Thr) rs758777519 0.00001
NM_005592.4(MUSK):c.1102C>T (p.Pro368Ser) rs768323977 0.00001
NM_005592.4(MUSK):c.1119G>T (p.Leu373Phe) rs747717789 0.00001
NM_005592.4(MUSK):c.1159G>T (p.Val387Leu) rs770907001 0.00001
NM_005592.4(MUSK):c.1273G>A (p.Glu425Lys) rs745722798 0.00001
NM_005592.4(MUSK):c.1279C>G (p.His427Asp) rs751266636 0.00001
NM_005592.4(MUSK):c.1291G>A (p.Val431Met) rs372013406 0.00001
NM_005592.4(MUSK):c.133G>C (p.Ala45Pro) rs763800237 0.00001
NM_005592.4(MUSK):c.1360G>A (p.Asp454Asn) rs202239254 0.00001
NM_005592.4(MUSK):c.1465T>C (p.Ser489Pro) rs1161905783 0.00001
NM_005592.4(MUSK):c.1541C>T (p.Thr514Ile) rs1467052958 0.00001
NM_005592.4(MUSK):c.1556G>A (p.Arg519Gln) rs773818596 0.00001
NM_005592.4(MUSK):c.1744G>A (p.Gly582Arg) rs202126269 0.00001
NM_005592.4(MUSK):c.1754C>T (p.Ala585Val) rs953823198 0.00001
NM_005592.4(MUSK):c.1813A>G (p.Met605Val) rs758777089 0.00001
NM_005592.4(MUSK):c.1895A>T (p.Glu632Val) rs769807910 0.00001
NM_005592.4(MUSK):c.1915G>A (p.Val639Met) rs766810675 0.00001
NM_005592.4(MUSK):c.1925T>C (p.Leu642Ser) rs751851038 0.00001
NM_005592.4(MUSK):c.1969T>C (p.Tyr657His) rs760452360 0.00001
NM_005592.4(MUSK):c.2002C>T (p.Arg668Cys) rs754730206 0.00001
NM_005592.4(MUSK):c.206+5G>A rs767539226 0.00001
NM_005592.4(MUSK):c.2065G>T (p.Val689Phe) rs1464125081 0.00001
NM_005592.4(MUSK):c.2140G>C (p.Ala714Pro) rs1377981904 0.00001
NM_005592.4(MUSK):c.2156G>A (p.Arg719His) rs545173798 0.00001
NM_005592.4(MUSK):c.220C>T (p.Arg74Trp) rs1370203787 0.00001
NM_005592.4(MUSK):c.221G>A (p.Arg74Gln) rs758118087 0.00001
NM_005592.4(MUSK):c.2222T>C (p.Ile741Thr) rs752514384 0.00001
NM_005592.4(MUSK):c.2332C>T (p.Arg778Cys) rs750833487 0.00001
NM_005592.4(MUSK):c.2333G>A (p.Arg778His) rs751712655 0.00001
NM_005592.4(MUSK):c.233G>A (p.Arg78Gln) rs776815006 0.00001
NM_005592.4(MUSK):c.2346G>T (p.Glu782Asp) rs34614566 0.00001
NM_005592.4(MUSK):c.2408A>G (p.Tyr803Cys) rs376837791 0.00001
NM_005592.4(MUSK):c.242G>C (p.Gly81Ala) rs1644805907 0.00001
NM_005592.4(MUSK):c.2430G>C (p.Glu810Asp) rs1455145377 0.00001
NM_005592.4(MUSK):c.2507G>A (p.Arg836His) rs371689428 0.00001
NM_005592.4(MUSK):c.2579G>T (p.Cys860Phe) rs748071334 0.00001
NM_005592.4(MUSK):c.2581G>A (p.Glu861Lys) rs1588054854 0.00001
NM_005592.4(MUSK):c.2600T>C (p.Val867Ala) rs779710805 0.00001
NM_005592.4(MUSK):c.2608T>C (p.Ter870Gln) rs201134491 0.00001
NM_005592.4(MUSK):c.296G>T (p.Cys99Phe) rs760781844 0.00001
NM_005592.4(MUSK):c.315G>A (p.Val105=) rs751133130 0.00001
NM_005592.4(MUSK):c.359-2dup rs1185775471 0.00001
NM_005592.4(MUSK):c.430A>G (p.Thr144Ala) rs1210600769 0.00001
NM_005592.4(MUSK):c.43C>A (p.Leu15Met) rs746254848 0.00001
NM_005592.4(MUSK):c.441T>A (p.Asn147Lys) rs1476034971 0.00001
NM_005592.4(MUSK):c.467A>T (p.Lys156Met) rs1048310820 0.00001
NM_005592.4(MUSK):c.486+6T>G rs763532251 0.00001
NM_005592.4(MUSK):c.538G>A (p.Val180Ile) rs1468498564 0.00001
NM_005592.4(MUSK):c.557G>C (p.Gly186Ala) rs373304727 0.00001
NM_005592.4(MUSK):c.58G>A (p.Gly20Arg) rs758427621 0.00001
NM_005592.4(MUSK):c.593C>T (p.Thr198Ile) rs561525761 0.00001
NM_005592.4(MUSK):c.635C>T (p.Ala212Val) rs756953369 0.00001
NM_005592.4(MUSK):c.697T>C (p.Cys233Arg) rs376911820 0.00001
NM_005592.4(MUSK):c.701C>T (p.Thr234Ile) rs1170201682 0.00001
NM_005592.4(MUSK):c.745G>A (p.Gly249Arg) rs1372004765 0.00001
NM_005592.4(MUSK):c.788A>C (p.Asp263Ala) rs1187474550 0.00001
NM_005592.4(MUSK):c.791G>A (p.Arg264Gln) rs193019632 0.00001
NM_005592.4(MUSK):c.872A>G (p.Lys291Arg) rs752641780 0.00001
NM_005592.4(MUSK):c.875T>G (p.Phe292Cys) rs1416891382 0.00001
NM_005677.4(COLQ):c.1006G>A (p.Ala336Thr) rs1221084401 0.00001
NM_005677.4(COLQ):c.1211A>G (p.Tyr404Cys) rs764064240 0.00001
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe) rs1336071409 0.00001
NM_005677.4(COLQ):c.1339G>A (p.Asp447Asn) rs770753693 0.00001
NM_005677.4(COLQ):c.1346C>T (p.Thr449Met) rs1015425548 0.00001
NM_005677.4(COLQ):c.136G>A (p.Gly46Ser) rs981504781 0.00001
NM_005677.4(COLQ):c.16C>T (p.Pro6Ser) rs1314591935 0.00001
NM_005677.4(COLQ):c.188C>T (p.Pro63Leu) rs1553637369 0.00001
NM_005677.4(COLQ):c.19A>G (p.Met7Val) rs774887446 0.00001
NM_005677.4(COLQ):c.1A>G (p.Met1Val) rs754147251 0.00001
NM_005677.4(COLQ):c.241A>G (p.Asn81Asp) rs748826424 0.00001
NM_005677.4(COLQ):c.290C>T (p.Ser97Leu) rs531584926 0.00001
NM_005677.4(COLQ):c.380G>A (p.Arg127Gln) rs201856842 0.00001
NM_005677.4(COLQ):c.406C>T (p.Pro136Ser) rs1039189998 0.00001
NM_005677.4(COLQ):c.460C>G (p.Pro154Ala) rs755848079 0.00001
NM_005677.4(COLQ):c.465+5G>T rs1384588788 0.00001
NM_005677.4(COLQ):c.466-9T>G rs930607699 0.00001
NM_005677.4(COLQ):c.473A>C (p.Lys158Thr) rs1278879838 0.00001
NM_005677.4(COLQ):c.529-10T>A rs968125549 0.00001
NM_005677.4(COLQ):c.555+5G>T rs765867687 0.00001
NM_005677.4(COLQ):c.584G>A (p.Gly195Asp) rs764640385 0.00001
NM_005677.4(COLQ):c.610G>A (p.Gly204Arg) rs374783562 0.00001
NM_005677.4(COLQ):c.784C>T (p.Arg262Cys) rs1318954229 0.00001
NM_005677.4(COLQ):c.820C>T (p.Leu274Phe) rs763262836 0.00001
NM_005677.4(COLQ):c.833C>A (p.Pro278His) rs1341977323 0.00001
NM_005677.4(COLQ):c.914G>T (p.Gly305Val) rs763518486 0.00001
NM_005677.4(COLQ):c.918A>T (p.Glu306Asp) rs765680430 0.00001
NM_005677.4(COLQ):c.941C>T (p.Pro314Leu) rs370201862 0.00001
NM_020549.5(CHAT):c.1025A>G (p.Asn342Ser) rs781745178 0.00001
NM_020549.5(CHAT):c.1033G>A (p.Glu345Lys) rs200776329 0.00001
NM_020549.5(CHAT):c.104G>A (p.Cys35Tyr) rs1004933171 0.00001
NM_020549.5(CHAT):c.1144G>C (p.Glu382Gln) rs1463880522 0.00001
NM_020549.5(CHAT):c.1228G>A (p.Gly410Ser) rs749948399 0.00001
NM_020549.5(CHAT):c.1267G>A (p.Asp423Asn) rs759707536 0.00001
NM_020549.5(CHAT):c.127G>A (p.Gly43Arg) rs1423177834 0.00001
NM_020549.5(CHAT):c.1282-3C>T rs1373606481 0.00001
NM_020549.5(CHAT):c.1282-6T>C rs771457200 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1360A>G (p.Thr454Ala) rs745938985 0.00001
NM_020549.5(CHAT):c.1409G>A (p.Arg470Gln) rs774834313 0.00001
NM_020549.5(CHAT):c.1420G>A (p.Val474Ile) rs371719364 0.00001
NM_020549.5(CHAT):c.1466C>T (p.Pro489Leu) rs764921945 0.00001
NM_020549.5(CHAT):c.1490C>T (p.Ser497Phe) rs141878259 0.00001
NM_020549.5(CHAT):c.1643G>A (p.Arg548Gln) rs141881680 0.00001
NM_020549.5(CHAT):c.1696C>T (p.Arg566Cys) rs368957556 0.00001
NM_020549.5(CHAT):c.1750G>A (p.Val584Met) rs547073881 0.00001
NM_020549.5(CHAT):c.1769C>T (p.Ala590Val) rs1313042835 0.00001
NM_020549.5(CHAT):c.176C>T (p.Pro59Leu) rs766916844 0.00001
NM_020549.5(CHAT):c.1801A>G (p.Lys601Glu) rs1399092731 0.00001
NM_020549.5(CHAT):c.1811T>A (p.Ile604Asn) rs1178039732 0.00001
NM_020549.5(CHAT):c.1823C>A (p.Thr608Asn) rs773228076 0.00001
NM_020549.5(CHAT):c.1880T>C (p.Leu627Pro) rs775066227 0.00001
NM_020549.5(CHAT):c.2004C>G (p.Cys668Trp) rs1156904329 0.00001
NM_020549.5(CHAT):c.205C>A (p.Pro69Thr) rs924554606 0.00001
NM_020549.5(CHAT):c.2147T>C (p.Ile716Thr) rs1419018923 0.00001
NM_020549.5(CHAT):c.2211A>T (p.Glu737Asp) rs1840309929 0.00001
NM_020549.5(CHAT):c.221C>T (p.Thr74Ile) rs1268273103 0.00001
NM_020549.5(CHAT):c.2234G>A (p.Gly745Glu) rs867343616 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020549.5(CHAT):c.244T>G (p.Cys82Gly) rs1330484583 0.00001
NM_020549.5(CHAT):c.316C>T (p.Leu106Phe) rs776042082 0.00001
NM_020549.5(CHAT):c.413C>T (p.Pro138Leu) rs557059182 0.00001
NM_020549.5(CHAT):c.532A>T (p.Thr178Ser) rs757480104 0.00001
NM_020549.5(CHAT):c.540G>C (p.Gln180His) rs200143133 0.00001
NM_020549.5(CHAT):c.619C>T (p.Arg207Cys) rs760936252 0.00001
NM_020549.5(CHAT):c.652G>A (p.Val218Met) rs751863010 0.00001
NM_020549.5(CHAT):c.719C>T (p.Ser240Phe) rs1269023544 0.00001
NM_020549.5(CHAT):c.839A>G (p.Tyr280Cys) rs1186633197 0.00001
NM_020549.5(CHAT):c.84G>T (p.Arg28Ser) rs745753124 0.00001
NM_020549.5(CHAT):c.965G>A (p.Arg322His) rs906626657 0.00001
NM_021815.5(SLC5A7):c.1033A>T (p.Met345Leu) rs769383404 0.00001
NM_021815.5(SLC5A7):c.103G>A (p.Ala35Thr) rs1225811300 0.00001
NM_021815.5(SLC5A7):c.110A>G (p.Glu37Gly) rs771965968 0.00001
NM_021815.5(SLC5A7):c.1118C>T (p.Ser373Leu) rs776949424 0.00001
NM_021815.5(SLC5A7):c.1122C>A (p.Asp374Glu) rs765428136 0.00001
NM_021815.5(SLC5A7):c.1181C>G (p.Ala394Gly) rs750242187 0.00001
NM_021815.5(SLC5A7):c.118G>A (p.Glu40Lys) rs760447400 0.00001
NM_021815.5(SLC5A7):c.119A>C (p.Glu40Ala) rs770628227 0.00001
NM_021815.5(SLC5A7):c.1254C>A (p.Phe418Leu) rs770003632 0.00001
NM_021815.5(SLC5A7):c.12T>G (p.His4Gln) rs1677318394 0.00001
NM_021815.5(SLC5A7):c.13G>A (p.Val5Met) rs759997671 0.00001
NM_021815.5(SLC5A7):c.1414A>G (p.Ile472Val) rs1248009607 0.00001
NM_021815.5(SLC5A7):c.1444C>T (p.Leu482Phe) rs370223910 0.00001
NM_021815.5(SLC5A7):c.1478G>T (p.Cys493Phe) rs532174786 0.00001
NM_021815.5(SLC5A7):c.1484C>G (p.Ser495Cys) rs1446927168 0.00001
NM_021815.5(SLC5A7):c.1517C>T (p.Thr506Ile) rs140863834 0.00001
NM_021815.5(SLC5A7):c.1613A>G (p.Lys538Arg) rs1288760672 0.00001
NM_021815.5(SLC5A7):c.1628C>A (p.Ala543Glu) rs751068657 0.00001
NM_021815.5(SLC5A7):c.1642C>T (p.Arg548Ter) rs199636877 0.00001
NM_021815.5(SLC5A7):c.1672dup (p.Thr558fs) rs748711877 0.00001
NM_021815.5(SLC5A7):c.1718C>T (p.Ser573Phe) rs374245840 0.00001
NM_021815.5(SLC5A7):c.1722G>T (p.Gly574=) rs762662680 0.00001
NM_021815.5(SLC5A7):c.1727A>T (p.Glu576Val) rs751087167 0.00001
NM_021815.5(SLC5A7):c.238T>C (p.Tyr80His) rs748862220 0.00001
NM_021815.5(SLC5A7):c.277C>T (p.Leu93Phe) rs1172822464 0.00001
NM_021815.5(SLC5A7):c.319C>T (p.Arg107Cys) rs1265189648 0.00001
NM_021815.5(SLC5A7):c.31A>G (p.Ile11Val) rs911790588 0.00001
NM_021815.5(SLC5A7):c.34A>G (p.Ile12Val) rs764663527 0.00001
NM_021815.5(SLC5A7):c.35T>C (p.Ile12Thr) rs1057353436 0.00001
NM_021815.5(SLC5A7):c.373C>T (p.Arg125Cys) rs757211775 0.00001
NM_021815.5(SLC5A7):c.382G>A (p.Gly128Arg) rs1222306029 0.00001
NM_021815.5(SLC5A7):c.385C>T (p.Leu129Phe) rs748901270 0.00001
NM_021815.5(SLC5A7):c.534G>A (p.Val178=) rs1573601177 0.00001
NM_021815.5(SLC5A7):c.625C>A (p.His209Asn) rs763744412 0.00001
NM_021815.5(SLC5A7):c.665C>T (p.Ala222Val) rs1351029450 0.00001
NM_021815.5(SLC5A7):c.679C>G (p.Pro227Ala) rs1035258430 0.00001
NM_021815.5(SLC5A7):c.698A>G (p.Asp233Gly) rs1677927626 0.00001
NM_021815.5(SLC5A7):c.704C>G (p.Ser235Cys) rs755576066 0.00001
NM_021815.5(SLC5A7):c.716C>T (p.Ser239Phe) rs778161682 0.00001
NM_021815.5(SLC5A7):c.897C>G (p.Asp299Glu) rs1370287710 0.00001
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu) rs544811110 0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln) rs1828726794 0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu) rs1828725925 0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val) rs567637718 0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu) rs754159662 0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val) rs762887574 0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly) rs963221673 0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn) rs1475354932 0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu) rs749613639 0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=) rs1225254115 0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met) rs770103603 0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607 0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser) rs941593352 0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser) rs910168958 0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro) rs770722154 0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla) rs762654045 0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs) rs763575022 0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln) rs1025210566 0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile) rs752746581 0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu) rs746092484 0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp) rs1486842886 0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro) rs759789517 0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile) rs1166295828 0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly) rs745514949 0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter) rs139547697 0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys) rs189167741 0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile) rs766853240 0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met) rs1280699944 0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro) rs202053471 0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met) rs764242401 0.00001
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg) rs763054916 0.00001
NM_130811.4(SNAP25):c.358G>A (p.Val120Ile) rs761830881 0.00001
NM_130811.4(SNAP25):c.404G>A (p.Arg135His) rs1315869651 0.00001
NM_130811.4(SNAP25):c.463G>A (p.Gly155Ser) rs2064181965 0.00001
NM_130811.4(SNAP25):c.7G>A (p.Glu3Lys) rs535525064 0.00001
NM_130811.4(SNAP25):c.84C>T (p.Ser28=) rs956599079 0.00001
NM_130811.4(SNAP25):c.92G>A (p.Arg31His) rs1341058084 0.00001
NM_144988.4(ALG14):c.109C>T (p.Leu37Phe) rs1212603713 0.00001
NM_144988.4(ALG14):c.191C>T (p.Ser64Leu) rs753195443 0.00001
NM_144988.4(ALG14):c.248C>A (p.Ser83Tyr) rs767402341 0.00001
NM_144988.4(ALG14):c.277C>G (p.Pro93Ala) rs775152763 0.00001
NM_144988.4(ALG14):c.280A>G (p.Ser94Gly) rs1360024892 0.00001
NM_144988.4(ALG14):c.328G>A (p.Glu110Lys) rs976380616 0.00001
NM_144988.4(ALG14):c.371A>C (p.His124Pro) rs1553228218 0.00001
NM_144988.4(ALG14):c.389T>A (p.Phe130Tyr) rs150452802 0.00001
NM_144988.4(ALG14):c.38C>T (p.Ala13Val) rs983938710 0.00001
NM_144988.4(ALG14):c.535G>A (p.Glu179Lys) rs957188576 0.00001
NM_144988.4(ALG14):c.539C>T (p.Thr180Met) rs750820046 0.00001
NM_173660.5(DOK7):c.1057T>C (p.Ser353Pro) rs931160069 0.00001
NM_173660.5(DOK7):c.1058C>T (p.Ser353Leu) rs757019137 0.00001
NM_173660.5(DOK7):c.1096A>G (p.Thr366Ala) rs556239795 0.00001
NM_173660.5(DOK7):c.1103A>G (p.Glu368Gly) rs375795223 0.00001
NM_173660.5(DOK7):c.1138G>C (p.Ala380Pro) rs760412846 0.00001
NM_173660.5(DOK7):c.1214A>G (p.Tyr405Cys) rs746536929 0.00001
NM_173660.5(DOK7):c.1217A>G (p.Asp406Gly) rs1027188166 0.00001
NM_173660.5(DOK7):c.1228A>G (p.Ser410Gly) rs547633164 0.00001
NM_173660.5(DOK7):c.1247G>T (p.Arg416Ile) rs1392647950 0.00001
NM_173660.5(DOK7):c.1268A>G (p.Gln423Arg) rs756360879 0.00001
NM_173660.5(DOK7):c.1280G>A (p.Gly427Asp) rs2020433 0.00001
NM_173660.5(DOK7):c.1355G>A (p.Arg452Gln) rs777057956 0.00001
NM_173660.5(DOK7):c.1367T>G (p.Met456Arg) rs753317302 0.00001
NM_173660.5(DOK7):c.1379A>G (p.Gln460Arg) rs898026035 0.00001
NM_173660.5(DOK7):c.1387G>A (p.Glu463Lys) rs745941308 0.00001
NM_173660.5(DOK7):c.1411C>T (p.Pro471Ser) rs764872565 0.00001
NM_173660.5(DOK7):c.1412C>T (p.Pro471Leu) rs535473251 0.00001
NM_173660.5(DOK7):c.1448G>A (p.Gly483Glu) rs761289689 0.00001
NM_173660.5(DOK7):c.1478C>T (p.Pro493Leu) rs773679215 0.00001
NM_173660.5(DOK7):c.1485T>A (p.Cys495Ter) rs1219587536 0.00001
NM_173660.5(DOK7):c.1513T>C (p.Ter505Arg) rs1189551686 0.00001
NM_173660.5(DOK7):c.151C>A (p.Leu51Met) rs761336523 0.00001
NM_173660.5(DOK7):c.328G>A (p.Glu110Lys) rs1024410823 0.00001
NM_173660.5(DOK7):c.383C>T (p.Pro128Leu) rs376659660 0.00001
NM_173660.5(DOK7):c.386C>T (p.Ala129Val) rs1158650422 0.00001
NM_173660.5(DOK7):c.412C>A (p.Leu138Ile) rs747942116 0.00001
NM_173660.5(DOK7):c.415G>A (p.Val139Ile) rs571769859 0.00001
NM_173660.5(DOK7):c.458A>C (p.Lys153Thr) rs1362167631 0.00001
NM_173660.5(DOK7):c.460C>G (p.Leu154Val) rs775014794 0.00001
NM_173660.5(DOK7):c.472C>T (p.Arg158Trp) rs753436594 0.00001
NM_173660.5(DOK7):c.476G>A (p.Arg159His) rs1485585052 0.00001
NM_173660.5(DOK7):c.481G>A (p.Gly161Arg) rs758131044 0.00001
NM_173660.5(DOK7):c.490C>T (p.Pro164Ser) rs142756576 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_173660.5(DOK7):c.49A>C (p.Lys17Gln) rs1726073976 0.00001
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys) rs1388813398 0.00001
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn) rs760505816 0.00001
NM_173660.5(DOK7):c.598G>A (p.Val200Ile) rs1388192187 0.00001
NM_173660.5(DOK7):c.602G>A (p.Arg201Gln) rs1339181692 0.00001
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro) rs553985062 0.00001
NM_173660.5(DOK7):c.649C>T (p.Pro217Ser) rs1301546614 0.00001
NM_173660.5(DOK7):c.652+5G>A rs772918388 0.00001
NM_173660.5(DOK7):c.655C>G (p.Pro219Ala) rs956613882 0.00001
NM_173660.5(DOK7):c.676A>G (p.Thr226Ala) rs1447016347 0.00001
NM_173660.5(DOK7):c.691G>A (p.Val231Met) rs369297851 0.00001
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg) rs1023898774 0.00001
NM_173660.5(DOK7):c.766A>G (p.Ser256Gly) rs750004938 0.00001
NM_173660.5(DOK7):c.878G>T (p.Ser293Ile) rs767303929 0.00001
NM_173660.5(DOK7):c.946A>G (p.Arg316Gly) rs898373845 0.00001
NM_198576.4(AGRN):c.1009A>G (p.Thr337Ala) rs761043248 0.00001
NM_198576.4(AGRN):c.1036C>T (p.Pro346Ser) rs879928015 0.00001
NM_198576.4(AGRN):c.1061C>T (p.Ala354Val) rs759676959 0.00001
NM_198576.4(AGRN):c.1101C>G (p.Asp367Glu) rs754488616 0.00001
NM_198576.4(AGRN):c.1126G>A (p.Ala376Thr) rs1455286726 0.00001
NM_198576.4(AGRN):c.1159G>A (p.Gly387Ser) rs1644943642 0.00001
NM_198576.4(AGRN):c.1178A>G (p.Asp393Gly) rs1251468066 0.00001
NM_198576.4(AGRN):c.1222C>T (p.Arg408Cys) rs775310667 0.00001
NM_198576.4(AGRN):c.1249G>A (p.Asp417Asn) rs148420980 0.00001
NM_198576.4(AGRN):c.1258A>G (p.Thr420Ala) rs777791014 0.00001
NM_198576.4(AGRN):c.1405C>T (p.Leu469Phe) rs752078908 0.00001
NM_198576.4(AGRN):c.1427G>C (p.Gly476Ala) rs986280294 0.00001
NM_198576.4(AGRN):c.1580A>C (p.Gln527Pro) rs1489534034 0.00001
NM_198576.4(AGRN):c.1603+9C>T rs529318022 0.00001
NM_198576.4(AGRN):c.1606C>T (p.Arg536Cys) rs745663789 0.00001
NM_198576.4(AGRN):c.167A>G (p.Asn56Ser) rs1316890507 0.00001
NM_198576.4(AGRN):c.1685T>C (p.Leu562Ser) rs771414620 0.00001
NM_198576.4(AGRN):c.1708G>A (p.Asp570Asn) rs374232667 0.00001
NM_198576.4(AGRN):c.1721A>T (p.Tyr574Phe) rs749074796 0.00001
NM_198576.4(AGRN):c.1724C>G (p.Pro575Arg) rs1645009481 0.00001
NM_198576.4(AGRN):c.1796G>A (p.Cys599Tyr) rs1277483777 0.00001
NM_198576.4(AGRN):c.1798G>A (p.Glu600Lys) rs1310138293 0.00001
NM_198576.4(AGRN):c.1814C>T (p.Ala605Val) rs1038802664 0.00001
NM_198576.4(AGRN):c.1841C>T (p.Ser614Phe) rs202090219 0.00001
NM_198576.4(AGRN):c.1843G>A (p.Ala615Thr) rs762357955 0.00001
NM_198576.4(AGRN):c.1855G>A (p.Val619Met) rs761043604 0.00001
NM_198576.4(AGRN):c.1891G>A (p.Val631Met) rs748716996 0.00001
NM_198576.4(AGRN):c.1906G>A (p.Gly636Ser) rs1042435801 0.00001
NM_198576.4(AGRN):c.1918G>A (p.Gly640Ser) rs759762952 0.00001
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp) rs534519250 0.00001
NM_198576.4(AGRN):c.1999+6C>G rs747508825 0.00001
NM_198576.4(AGRN):c.2006G>A (p.Cys669Tyr) rs1196333702 0.00001
NM_198576.4(AGRN):c.201+4C>A rs1313469026 0.00001
NM_198576.4(AGRN):c.2063G>A (p.Arg688Gln) rs780817353 0.00001
NM_198576.4(AGRN):c.2134G>A (p.Val712Ile) rs745652394 0.00001
NM_198576.4(AGRN):c.2245G>A (p.Ala749Thr) rs1278297283 0.00001
NM_198576.4(AGRN):c.2276C>T (p.Pro759Leu) rs1214623286 0.00001
NM_198576.4(AGRN):c.2291T>C (p.Leu764Ser) rs766070520 0.00001
NM_198576.4(AGRN):c.2300C>T (p.Ala767Val) rs1384713725 0.00001
NM_198576.4(AGRN):c.2329A>C (p.Asn777His) rs777783441 0.00001
NM_198576.4(AGRN):c.2344C>T (p.Arg782Trp) rs1224886218 0.00001
NM_198576.4(AGRN):c.2356C>G (p.Leu786Val) rs761794267 0.00001
NM_198576.4(AGRN):c.2390C>G (p.Pro797Arg) rs770988590 0.00001
NM_198576.4(AGRN):c.2426C>T (p.Thr809Ile) rs1366119256 0.00001
NM_198576.4(AGRN):c.2456G>A (p.Gly819Glu) rs202021682 0.00001
NM_198576.4(AGRN):c.2495A>G (p.Asn832Ser) rs761152280 0.00001
NM_198576.4(AGRN):c.2522G>A (p.Arg841Gln) rs756103278 0.00001
NM_198576.4(AGRN):c.2575T>C (p.Cys859Arg) rs768805007 0.00001
NM_198576.4(AGRN):c.2617G>T (p.Ala873Ser) rs1645074389 0.00001
NM_198576.4(AGRN):c.2659G>T (p.Gly887Cys) rs373631709 0.00001
NM_198576.4(AGRN):c.2662C>T (p.Pro888Ser) rs560184470 0.00001
NM_198576.4(AGRN):c.2680+6T>C rs748272401 0.00001
NM_198576.4(AGRN):c.2705C>T (p.Ala902Val) rs753492233 0.00001
NM_198576.4(AGRN):c.2714G>A (p.Arg905His) rs751639799 0.00001
NM_198576.4(AGRN):c.2731C>T (p.Arg911Trp) rs200642681 0.00001
NM_198576.4(AGRN):c.2833G>C (p.Gly945Arg) rs911274904 0.00001
NM_198576.4(AGRN):c.2860G>A (p.Ala954Thr) rs775642947 0.00001
NM_198576.4(AGRN):c.2867G>A (p.Arg956His) rs757057339 0.00001
NM_198576.4(AGRN):c.2903C>T (p.Pro968Leu) rs772386655 0.00001
NM_198576.4(AGRN):c.2913G>A (p.Glu971=) rs1372362266 0.00001
NM_198576.4(AGRN):c.2966C>T (p.Pro989Leu) rs1465399788 0.00001
NM_198576.4(AGRN):c.3004G>A (p.Gly1002Ser) rs757677789 0.00001
NM_198576.4(AGRN):c.3050C>T (p.Thr1017Ile) rs1224006799 0.00001
NM_198576.4(AGRN):c.3086G>A (p.Ser1029Asn) rs761318596 0.00001
NM_198576.4(AGRN):c.3088G>A (p.Val1030Ile) rs199933532 0.00001
NM_198576.4(AGRN):c.3103G>A (p.Val1035Met) rs756015484 0.00001
NM_198576.4(AGRN):c.3152G>A (p.Ser1051Asn) rs1014335796 0.00001
NM_198576.4(AGRN):c.3153C>G (p.Ser1051Arg) rs1367992401 0.00001
NM_198576.4(AGRN):c.3185G>A (p.Ser1062Asn) rs751833707 0.00001
NM_198576.4(AGRN):c.3236G>T (p.Gly1079Val) rs1399398380 0.00001
NM_198576.4(AGRN):c.3277G>A (p.Val1093Met) rs572261141 0.00001
NM_198576.4(AGRN):c.3296C>T (p.Pro1099Leu) rs564170089 0.00001
NM_198576.4(AGRN):c.3325G>A (p.Ala1109Thr) rs1221116957 0.00001
NM_198576.4(AGRN):c.3365A>G (p.Asp1122Gly) rs1048772741 0.00001
NM_198576.4(AGRN):c.3402C>A (p.Phe1134Leu) rs1250886116 0.00001
NM_198576.4(AGRN):c.3416A>C (p.Glu1139Ala) rs758652107 0.00001
NM_198576.4(AGRN):c.3454C>T (p.Pro1152Ser) rs760592311 0.00001
NM_198576.4(AGRN):c.3517C>T (p.Leu1173=) rs756576195 0.00001
NM_198576.4(AGRN):c.3523G>A (p.Asp1175Asn) rs571230424 0.00001
NM_198576.4(AGRN):c.3526C>G (p.Leu1176Val) rs1361747412 0.00001
NM_198576.4(AGRN):c.356C>T (p.Pro119Leu) rs760057776 0.00001
NM_198576.4(AGRN):c.358G>C (p.Ala120Pro) rs765443053 0.00001
NM_198576.4(AGRN):c.3601C>T (p.Arg1201Cys) rs763762094 0.00001
NM_198576.4(AGRN):c.3607A>G (p.Ile1203Val) rs778562449 0.00001
NM_198576.4(AGRN):c.3635C>T (p.Thr1212Ile) rs1470278093 0.00001
NM_198576.4(AGRN):c.364C>G (p.Pro122Ala) rs1445429136 0.00001
NM_198576.4(AGRN):c.3661C>T (p.Arg1221Trp) rs374345060 0.00001
NM_198576.4(AGRN):c.3721C>A (p.Leu1241Met) rs202194761 0.00001
NM_198576.4(AGRN):c.3737G>A (p.Arg1246Gln) rs1047444673 0.00001
NM_198576.4(AGRN):c.3809C>T (p.Thr1270Met) rs779140262 0.00001
NM_198576.4(AGRN):c.3856C>A (p.Pro1286Thr) rs760218476 0.00001
NM_198576.4(AGRN):c.3859C>T (p.Arg1287Trp) rs776411371 0.00001
NM_198576.4(AGRN):c.3860G>A (p.Arg1287Gln) rs1236736432 0.00001
NM_198576.4(AGRN):c.3892G>A (p.Val1298Ile) rs963483105 0.00001
NM_198576.4(AGRN):c.391G>A (p.Glu131Lys) rs746643534 0.00001
NM_198576.4(AGRN):c.3961C>T (p.Arg1321Cys) rs1483197613 0.00001
NM_198576.4(AGRN):c.4066A>C (p.Ser1356Arg) rs753847571 0.00001
NM_198576.4(AGRN):c.410G>T (p.Ser137Ile) rs376542441 0.00001
NM_198576.4(AGRN):c.4114G>A (p.Ala1372Thr) rs376441344 0.00001
NM_198576.4(AGRN):c.4165C>T (p.Arg1389Cys) rs775753706 0.00001
NM_198576.4(AGRN):c.419G>A (p.Arg140Gln) rs760191021 0.00001
NM_198576.4(AGRN):c.4201C>T (p.Arg1401Trp) rs758090504 0.00001
NM_198576.4(AGRN):c.4205C>T (p.Ala1402Val) rs747440725 0.00001
NM_198576.4(AGRN):c.4271C>T (p.Ala1424Val) rs777530290 0.00001
NM_198576.4(AGRN):c.4337C>T (p.Ala1446Val) rs1027231298 0.00001
NM_198576.4(AGRN):c.435C>A (p.Asn145Lys) rs752866873 0.00001
NM_198576.4(AGRN):c.4394G>A (p.Arg1465Gln) rs371697818 0.00001
NM_198576.4(AGRN):c.4435G>A (p.Glu1479Lys) rs201142052 0.00001
NM_198576.4(AGRN):c.4503C>G (p.Asp1501Glu) rs770460630 0.00001
NM_198576.4(AGRN):c.4612G>T (p.Ala1538Ser) rs775550619 0.00001
NM_198576.4(AGRN):c.463+4C>T rs1644427555 0.00001
NM_198576.4(AGRN):c.463+5G>A rs779919649 0.00001
NM_198576.4(AGRN):c.4645G>A (p.Gly1549Arg) rs758000357 0.00001
NM_198576.4(AGRN):c.4669C>G (p.Pro1557Ala) rs1477877933 0.00001
NM_198576.4(AGRN):c.4670C>T (p.Pro1557Leu) rs1189874293 0.00001
NM_198576.4(AGRN):c.4680C>T (p.Gly1560=) rs763091420 0.00001
NM_198576.4(AGRN):c.472G>A (p.Gly158Arg) rs764956867 0.00001
NM_198576.4(AGRN):c.4730C>T (p.Pro1577Leu) rs1271577167 0.00001
NM_198576.4(AGRN):c.4744G>A (p.Gly1582Arg) rs1367262797 0.00001
NM_198576.4(AGRN):c.4799C>T (p.Ala1600Val) rs370833536 0.00001
NM_198576.4(AGRN):c.4800G>A (p.Ala1600=) rs369164916 0.00001
NM_198576.4(AGRN):c.4805C>T (p.Pro1602Leu) rs935763466 0.00001
NM_198576.4(AGRN):c.4822G>A (p.Glu1608Lys) rs770435802 0.00001
NM_198576.4(AGRN):c.4838G>A (p.Cys1613Tyr) rs1347129558 0.00001
NM_198576.4(AGRN):c.4847C>T (p.Pro1616Leu) rs764238368 0.00001
NM_198576.4(AGRN):c.4904C>A (p.Pro1635His) rs145341123 0.00001
NM_198576.4(AGRN):c.4916A>G (p.Asp1639Gly) rs532777950 0.00001
NM_198576.4(AGRN):c.4939G>C (p.Glu1647Gln) rs1404128392 0.00001
NM_198576.4(AGRN):c.4988C>T (p.Ala1663Val) rs753922672 0.00001
NM_198576.4(AGRN):c.49C>T (p.Leu17Phe) rs1057523287 0.00001
NM_198576.4(AGRN):c.500C>T (p.Thr167Met) rs745711705 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_198576.4(AGRN):c.5087G>A (p.Arg1696Gln) rs202223206 0.00001
NM_198576.4(AGRN):c.5147G>A (p.Arg1716Lys) rs1485164787 0.00001
NM_198576.4(AGRN):c.5173A>G (p.Thr1725Ala) rs1222963458 0.00001
NM_198576.4(AGRN):c.5197G>A (p.Gly1733Ser) rs746321629 0.00001
NM_198576.4(AGRN):c.5215C>T (p.Arg1739Cys) rs1361084400 0.00001
NM_198576.4(AGRN):c.5252C>T (p.Pro1751Leu) rs756986183 0.00001
NM_198576.4(AGRN):c.5293G>A (p.Val1765Ile) rs369850742 0.00001
NM_198576.4(AGRN):c.5299G>T (p.Gly1767Cys) rs1426112549 0.00001
NM_198576.4(AGRN):c.5300G>A (p.Gly1767Asp) rs143031281 0.00001
NM_198576.4(AGRN):c.5368C>G (p.Leu1790Val) rs1339779014 0.00001
NM_198576.4(AGRN):c.5380G>A (p.Gly1794Arg) rs374148623 0.00001
NM_198576.4(AGRN):c.5467G>A (p.Gly1823Ser) rs755865580 0.00001
NM_198576.4(AGRN):c.5505G>C (p.Arg1835Ser) rs760016457 0.00001
NM_198576.4(AGRN):c.5513C>A (p.Ala1838Asp) rs376270407 0.00001
NM_198576.4(AGRN):c.5557G>A (p.Glu1853Lys) rs754858398 0.00001
NM_198576.4(AGRN):c.5582C>T (p.Ala1861Val) rs138113721 0.00001
NM_198576.4(AGRN):c.5611G>A (p.Gly1871Arg) rs763818876 0.00001
NM_198576.4(AGRN):c.5629T>G (p.Tyr1877Asp) rs755383095 0.00001
NM_198576.4(AGRN):c.5652C>T (p.Ser1884=) rs777830736 0.00001
NM_198576.4(AGRN):c.5705C>T (p.Thr1902Met) rs775047750 0.00001
NM_198576.4(AGRN):c.575G>T (p.Arg192Leu) rs1319735888 0.00001
NM_198576.4(AGRN):c.5776G>A (p.Gly1926Arg) rs761747211 0.00001
NM_198576.4(AGRN):c.5815G>A (p.Val1939Met) rs753560167 0.00001
NM_198576.4(AGRN):c.5825G>A (p.Arg1942His) rs758968975 0.00001
NM_198576.4(AGRN):c.5833G>A (p.Val1945Met) rs145079121 0.00001
NM_198576.4(AGRN):c.5851C>T (p.Arg1951Cys) rs746117937 0.00001
NM_198576.4(AGRN):c.5944G>A (p.Ala1982Thr) rs768666839 0.00001
NM_198576.4(AGRN):c.5995C>A (p.Leu1999Met) rs868724036 0.00001
NM_198576.4(AGRN):c.6001G>A (p.Val2001Met) rs775422356 0.00001
NM_198576.4(AGRN):c.6005G>T (p.Gly2002Val) rs768333859 0.00001
NM_198576.4(AGRN):c.6008C>G (p.Pro2003Arg) rs773915738 0.00001
NM_198576.4(AGRN):c.6028G>A (p.Gly2010Ser) rs1166737018 0.00001
NM_198576.4(AGRN):c.602C>T (p.Pro201Leu) rs547205625 0.00001
NM_198576.4(AGRN):c.6053G>A (p.Arg2018Gln) rs766936338 0.00001
NM_198576.4(AGRN):c.6122C>T (p.Pro2041Leu) rs1393300336 0.00001
NM_198576.4(AGRN):c.664G>A (p.Glu222Lys) rs1242198480 0.00001
NM_198576.4(AGRN):c.686G>A (p.Ser229Asn) rs1284515586 0.00001
NM_198576.4(AGRN):c.68T>G (p.Val23Gly) rs1262975758 0.00001
NM_198576.4(AGRN):c.76G>A (p.Gly26Arg) rs1185534330 0.00001
NM_198576.4(AGRN):c.794G>A (p.Gly265Glu) rs1453117775 0.00001
NM_198576.4(AGRN):c.829C>T (p.Arg277Cys) rs1256837701 0.00001
NM_198576.4(AGRN):c.838C>T (p.Pro280Ser) rs772190345 0.00001
NM_198576.4(AGRN):c.904G>A (p.Ala302Thr) rs1318084676 0.00001
NC_000001.10:g.(?_95448632)_(95538454_?)dup
NC_000001.10:g.(?_95538299)_(95538454_?)del
NC_000001.10:g.(?_955553)_(957862_?)dup
NC_000001.10:g.(?_980719)_(1168648_?)dup
NC_000001.10:g.(?_984596)_(990361_?)dup
NC_000001.11:g.(?_1020163)_(1054991_?)dup
NC_000001.11:g.(?_1047317)_(1054991_?)dup
NC_000002.11:g.(?_108604592)_(108627337_?)dup
NC_000002.11:g.(?_108604612)_(108604809_?)del
NC_000002.11:g.(?_108604612)_(108609603_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)del
NC_000002.11:g.(?_108604612)_(108627317_?)dup
NC_000002.11:g.(?_44547318)_(44586854_?)dup
NC_000002.11:g.(?_44548485)_(44586864_?)dup
NC_000002.11:g.(?_44573387)_(44586854_?)dup
NC_000002.11:g.(?_69553299)_(69597260_?)dup
NC_000002.11:g.(?_69553299)_(69614213_?)dup
NC_000002.11:g.(?_69597123)_(69597250_?)del
NC_000002.12:g.(?_107988146)_(108010871_?)dup
NC_000002.12:g.(?_107988146)_(108963283_?)del
NC_000002.12:g.(?_107988146)_(108963283_?)dup
NC_000003.11:g.(?_15493151)_(15563132_?)dup
NC_000003.11:g.(?_15497396)_(15499842_?)del
NC_000003.12:g.(?_15451634)_(15521635_?)dup
NC_000004.11:g.(?_3465093)_(3495238_?)dup
NC_000004.11:g.(?_3465103)_(3465298_?)dup
NC_000004.11:g.(?_3465103)_(3495228_?)dup
NC_000004.11:g.(?_3494787)_3495019dup
NC_000009.11:g.(?_100190748)_(103062956_?)dup
NC_000009.11:g.(?_113006437)_(113563268_?)dup
NC_000009.11:g.(?_113431185)_(113459766_?)dup
NC_000010.10:g.(?_50818787)_(50824668_?)dup
NC_000010.10:g.(?_50818787)_(50873092_?)dup
NC_000010.10:g.(?_50821083)_(50874150_?)dup
NC_000010.10:g.(?_50822226)_(50873102_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)dup
NC_000011.9:g.(?_46880534)_(46893204_?)dup
NC_000011.9:g.(?_46880534)_(46918565_?)dup
NC_000011.9:g.(?_47431646)_(47470726_?)dup
NC_000017.10:g.(?_4802011)_(4850135_?)dup
NC_000017.10:g.(?_4804800)_(4806078_?)dup
NC_000017.10:g.(?_6328780)_(7606804_?)dup
NC_000017.10:g.(?_7348427)_(7352127_?)dup
NC_000017.10:g.(?_7348447)_(7357859_?)dup
NC_000017.10:g.(?_7357606)_(7360052_?)del
NC_000017.10:g.(?_7359882)_(7360042_?)del
NC_000017.11:g.(?_4898726)_(5024161_?)dup
NC_000020.10:g.(?_10256140)_(10286845_?)del
NM_000080.4(CHRNE):c.1000A>G (p.Thr334Ala)
NM_000080.4(CHRNE):c.1003A>C (p.Thr335Pro)
NM_000080.4(CHRNE):c.1004C>T (p.Thr335Ile)
NM_000080.4(CHRNE):c.1006C>T (p.His336Tyr)
NM_000080.4(CHRNE):c.1008C>G (p.His336Gln) rs768479748
NM_000080.4(CHRNE):c.1009G>A (p.Ala337Thr)
NM_000080.4(CHRNE):c.1012A>G (p.Met338Val) rs200035803
NM_000080.4(CHRNE):c.1016C>T (p.Ser339Phe)
NM_000080.4(CHRNE):c.1018C>T (p.Pro340Ser) rs1019584942
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) rs139922367
NM_000080.4(CHRNE):c.1021C>T (p.Arg341Trp) rs1597615227
NM_000080.4(CHRNE):c.1022G>A (p.Arg341Gln)
NM_000080.4(CHRNE):c.1025T>C (p.Leu342Pro) rs1230039635
NM_000080.4(CHRNE):c.1027C>A (p.Arg343Ser)
NM_000080.4(CHRNE):c.1028G>T (p.Arg343Leu)
NM_000080.4(CHRNE):c.1031A>G (p.His344Arg)
NM_000080.4(CHRNE):c.1032+3A>C
NM_000080.4(CHRNE):c.1032C>A (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>G (p.His344Gln) rs144047383
NM_000080.4(CHRNE):c.1032C>T (p.His344=)
NM_000080.4(CHRNE):c.1033-6_1033-1dup rs886053123
NM_000080.4(CHRNE):c.1036C>G (p.Leu346Val) rs1471932042
NM_000080.4(CHRNE):c.1049T>A (p.Leu350Gln) rs1969864400
NM_000080.4(CHRNE):c.1055G>T (p.Arg352Leu) rs764744220
NM_000080.4(CHRNE):c.1061T>C (p.Leu354Pro)
NM_000080.4(CHRNE):c.1063G>C (p.Gly355Arg)
NM_000080.4(CHRNE):c.1064G>C (p.Gly355Ala)
NM_000080.4(CHRNE):c.1067C>T (p.Ser356Phe)
NM_000080.4(CHRNE):c.1070C>T (p.Pro357Leu) rs1026988403
NM_000080.4(CHRNE):c.1071GCC[2] (p.Pro360del) rs752226476
NM_000080.4(CHRNE):c.1071GCC[4] (p.Pro360dup) rs752226476
NM_000080.4(CHRNE):c.1073C>T (p.Pro358Leu)
NM_000080.4(CHRNE):c.1076C>A (p.Pro359Gln) rs192195094
NM_000080.4(CHRNE):c.1085C>A (p.Ala362Asp)
NM_000080.4(CHRNE):c.1085C>G (p.Ala362Gly) rs1053507936
NM_000080.4(CHRNE):c.1085C>T (p.Ala362Val) rs1053507936
NM_000080.4(CHRNE):c.1090C>T (p.Arg364Trp)
NM_000080.4(CHRNE):c.1096G>C (p.Ala366Pro)
NM_000080.4(CHRNE):c.1102C>A (p.Pro368Thr) rs763837110
NM_000080.4(CHRNE):c.1117T>G (p.Ser373Ala) rs1555546304
NM_000080.4(CHRNE):c.1135C>T (p.Leu379Phe)
NM_000080.4(CHRNE):c.1138C>T (p.Arg380Cys)
NM_000080.4(CHRNE):c.1139G>C (p.Arg380Pro)
NM_000080.4(CHRNE):c.1142C>T (p.Ala381Val) rs756786529
NM_000080.4(CHRNE):c.1144GAG[1] (p.Glu383del) rs961784740
NM_000080.4(CHRNE):c.1151T>C (p.Leu384Pro) rs753397420
NM_000080.4(CHRNE):c.1155A>G (p.Ile385Met)
NM_000080.4(CHRNE):c.1172G>A (p.Ser391Asn)
NM_000080.4(CHRNE):c.1172_1173delinsTT (p.Ser391Ile) rs1555546288
NM_000080.4(CHRNE):c.1176G>C (p.Glu392Asp)
NM_000080.4(CHRNE):c.1180G>T (p.Val394Leu) rs772486503
NM_000080.4(CHRNE):c.1192C>A (p.Gln398Lys)
NM_000080.4(CHRNE):c.1201C>T (p.Arg401Trp)
NM_000080.4(CHRNE):c.1208G>A (p.Gly403Glu) rs1310787375
NM_000080.4(CHRNE):c.1214G>C (p.Trp405Ser)
NM_000080.4(CHRNE):c.1217C>A (p.Thr406Lys) rs532120320
NM_000080.4(CHRNE):c.121C>T (p.Pro41Ser)
NM_000080.4(CHRNE):c.1220-3C>T
NM_000080.4(CHRNE):c.1223C>G (p.Ala408Gly) rs778624148
NM_000080.4(CHRNE):c.1252_1254dup (p.Pro418_Glu419insPro)
NM_000080.4(CHRNE):c.1261C>G (p.Arg421Gly)
NM_000080.4(CHRNE):c.1282A>T (p.Asn428Tyr)
NM_000080.4(CHRNE):c.1291G>T (p.Ala431Ser) rs121909517
NM_000080.4(CHRNE):c.1310A>T (p.Gln437Leu)
NM_000080.4(CHRNE):c.1314G>C (p.Glu438Asp)
NM_000080.4(CHRNE):c.1318A>G (p.Thr440Ala)
NM_000080.4(CHRNE):c.1326+6A>C rs886053122
NM_000080.4(CHRNE):c.1327-21_1327-18del
NM_000080.4(CHRNE):c.1338C>G (p.Asp446Glu)
NM_000080.4(CHRNE):c.1343T>C (p.Val448Ala) rs1969824493
NM_000080.4(CHRNE):c.1345C>A (p.Arg449Ser) rs149083639
NM_000080.4(CHRNE):c.1350G>A (p.Met450Ile)
NM_000080.4(CHRNE):c.1358C>T (p.Ala453Val)
NM_000080.4(CHRNE):c.1363G>A (p.Asp455Asn)
NM_000080.4(CHRNE):c.1376T>G (p.Phe459Cys)
NM_000080.4(CHRNE):c.137A>G (p.Glu46Gly)
NM_000080.4(CHRNE):c.1382C>T (p.Ala461Val)
NM_000080.4(CHRNE):c.1406G>T (p.Gly469Val) rs1346830083
NM_000080.4(CHRNE):c.1439A>G (p.Asn480Ser) rs760738362
NM_000080.4(CHRNE):c.1441C>G (p.Arg481Gly)
NM_000080.4(CHRNE):c.1441C>T (p.Arg481Ter) rs775550642
NM_000080.4(CHRNE):c.1450G>C (p.Asp484His)
NM_000080.4(CHRNE):c.1463C>T (p.Ala488Val)
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.1481_*48del (p.Ter494LeuextTer?)
NM_000080.4(CHRNE):c.154_155insTCAGGTGACATACTGAGGATGACATACTGTCATCCG (p.Ser52delinsIleArgTer) rs2151098875
NM_000080.4(CHRNE):c.155G>A (p.Ser52Asn)
NM_000080.4(CHRNE):c.176A>T (p.Asn59Ile)
NM_000080.4(CHRNE):c.178C>T (p.Leu60Phe)
NM_000080.4(CHRNE):c.181A>G (p.Ile61Val)
NM_000080.4(CHRNE):c.189G>A (p.Leu63=)
NM_000080.4(CHRNE):c.194A>G (p.Glu65Gly)
NM_000080.4(CHRNE):c.202G>A (p.Glu68Lys) rs149766604
NM_000080.4(CHRNE):c.202G>C (p.Glu68Gln) rs149766604
NM_000080.4(CHRNE):c.235G>C (p.Asp79His) rs1200020913
NM_000080.4(CHRNE):c.235G>T (p.Asp79Tyr) rs1200020913
NM_000080.4(CHRNE):c.258C>T (p.Asn86=)
NM_000080.4(CHRNE):c.264C>A (p.Ser88Arg)
NM_000080.4(CHRNE):c.281G>T (p.Gly94Val)
NM_000080.4(CHRNE):c.296G>A (p.Arg99Gln)
NM_000080.4(CHRNE):c.301C>G (p.Pro101Ala)
NM_000080.4(CHRNE):c.313G>A (p.Val105Met)
NM_000080.4(CHRNE):c.316T>C (p.Trp106Arg)
NM_000080.4(CHRNE):c.328A>G (p.Ile110Val)
NM_000080.4(CHRNE):c.337G>A (p.Glu113Lys)
NM_000080.4(CHRNE):c.35T>C (p.Leu12Ser)
NM_000080.4(CHRNE):c.35T>G (p.Leu12Trp)
NM_000080.4(CHRNE):c.365T>C (p.Val122Ala)
NM_000080.4(CHRNE):c.376_377delinsTT (p.Ala126Phe)
NM_000080.4(CHRNE):c.380A>C (p.Asn127Thr)
NM_000080.4(CHRNE):c.384_389del (p.Leu129_Val130del) rs1555546980
NM_000080.4(CHRNE):c.398G>A (p.Gly133Asp)
NM_000080.4(CHRNE):c.400G>A (p.Gly134Ser)
NM_000080.4(CHRNE):c.404C>G (p.Ser135Cys) rs763181728
NM_000080.4(CHRNE):c.410C>T (p.Thr137Met) rs146089157
NM_000080.4(CHRNE):c.419C>T (p.Pro140Leu)
NM_000080.4(CHRNE):c.41T>A (p.Leu14His)
NM_000080.4(CHRNE):c.433C>T (p.Arg145Cys) rs1064795871
NM_000080.4(CHRNE):c.455T>A (p.Val152Asp)
NM_000080.4(CHRNE):c.46+3A>G
NM_000080.4(CHRNE):c.46+4C>T
NM_000080.4(CHRNE):c.506A>G (p.Gln169Arg)
NM_000080.4(CHRNE):c.509C>T (p.Thr170Met)
NM_000080.4(CHRNE):c.515A>G (p.Asn172Ser)
NM_000080.4(CHRNE):c.52G>A (p.Gly18Ser) rs1970033624
NM_000080.4(CHRNE):c.53G>C (p.Gly18Ala) rs4790235
NM_000080.4(CHRNE):c.541G>A (p.Ala181Thr)
NM_000080.4(CHRNE):c.546A>G (p.Val182=)
NM_000080.4(CHRNE):c.550A>T (p.Asn184Tyr)
NM_000080.4(CHRNE):c.560A>T (p.Lys187Met)
NM_000080.4(CHRNE):c.572A>T (p.Lys191Met) rs1555546863
NM_000080.4(CHRNE):c.577G>A (p.Asp193Asn)
NM_000080.4(CHRNE):c.58G>A (p.Gly20Arg)
NM_000080.4(CHRNE):c.599C>G (p.Thr200Ser) rs1969983733
NM_000080.4(CHRNE):c.602-4_602-3delinsTT rs1597619689
NM_000080.4(CHRNE):c.619A>G (p.Ile207Val) rs1422386099
NM_000080.4(CHRNE):c.627C>G (p.Phe209Leu)
NM_000080.4(CHRNE):c.628T>C (p.Cys210Arg) rs2151097468
NM_000080.4(CHRNE):c.62A>G (p.Lys21Arg) rs1970033266
NM_000080.4(CHRNE):c.644GCC[3] (p.Arg216_His217insArg)
NM_000080.4(CHRNE):c.653A>C (p.His218Pro)
NM_000080.4(CHRNE):c.661G>A (p.Ala221Thr)
NM_000080.4(CHRNE):c.670G>A (p.Gly224Ser)
NM_000080.4(CHRNE):c.673C>A (p.Pro225Thr)
NM_000080.4(CHRNE):c.682A>G (p.Thr228Ala)
NM_000080.4(CHRNE):c.686A>T (p.Asp229Val)
NM_000080.4(CHRNE):c.694T>C (p.Tyr232His) rs2151097342
NM_000080.4(CHRNE):c.695_697del (p.Tyr232del)
NM_000080.4(CHRNE):c.709C>T (p.Arg237Cys)
NM_000080.4(CHRNE):c.710G>A (p.Arg237His) rs201434993
NM_000080.4(CHRNE):c.725T>G (p.Phe242Cys) rs1969968160
NM_000080.4(CHRNE):c.739ATC[1] (p.Ile248del)
NM_000080.4(CHRNE):c.742A>C (p.Ile248Leu)
NM_000080.4(CHRNE):c.744C>G (p.Ile248Met)
NM_000080.4(CHRNE):c.751T>A (p.Cys251Ser) rs867237170
NM_000080.4(CHRNE):c.778C>T (p.Leu260Phe) rs1567638591
NM_000080.4(CHRNE):c.784T>C (p.Tyr262His)
NM_000080.4(CHRNE):c.802G>C (p.Ala268Pro)
NM_000080.4(CHRNE):c.808G>A (p.Gly270Ser) rs1447784617
NM_000080.4(CHRNE):c.829A>G (p.Ile277Val)
NM_000080.4(CHRNE):c.832A>T (p.Asn278Tyr) rs1284578156
NM_000080.4(CHRNE):c.851C>T (p.Thr284Ile)
NM_000080.4(CHRNE):c.851_852delinsAG (p.Thr284Lys)
NM_000080.4(CHRNE):c.865C>G (p.Leu289Val)
NM_000080.4(CHRNE):c.883C>G (p.Pro295Ala)
NM_000080.4(CHRNE):c.890C>T (p.Thr297Ile) rs770980262
NM_000080.4(CHRNE):c.899G>C (p.Ser300Thr) rs776585678
NM_000080.4(CHRNE):c.917G>T (p.Arg306Met) rs2151096983
NM_000080.4(CHRNE):c.918G>T (p.Arg306Ser) rs1453842961
NM_000080.4(CHRNE):c.949C>G (p.Leu317Val)
NM_000080.4(CHRNE):c.960G>A (p.Met320Ile)
NM_000080.4(CHRNE):c.980A>G (p.Asn327Ser)
NM_000080.4(CHRNE):c.994_1023dup (p.Arg341_Leu342insThrProThrThrHisAlaMetSerProArg)
NM_000747.3(CHRNB1):c.1026G>A (p.Met342Ile) rs1909001767
NM_000747.3(CHRNB1):c.1039C>T (p.Arg347Cys)
NM_000747.3(CHRNB1):c.1079T>C (p.Leu360Pro) rs747724114
NM_000747.3(CHRNB1):c.1096G>A (p.Glu366Lys)
NM_000747.3(CHRNB1):c.1102G>C (p.Asp368His) rs749009183
NM_000747.3(CHRNB1):c.1112C>T (p.Pro371Leu)
NM_000747.3(CHRNB1):c.1146C>G (p.Gly382=) rs886053403
NM_000747.3(CHRNB1):c.1147T>A (p.Trp383Arg)
NM_000747.3(CHRNB1):c.1154G>A (p.Arg385Gln) rs1222134398
NM_000747.3(CHRNB1):c.1154G>C (p.Arg385Pro) rs1222134398
NM_000747.3(CHRNB1):c.115_117del (p.Asp39del) rs777431654
NM_000747.3(CHRNB1):c.1162G>T (p.Asp388Tyr)
NM_000747.3(CHRNB1):c.1172T>G (p.Phe391Cys)
NM_000747.3(CHRNB1):c.1195T>C (p.Phe399Leu)
NM_000747.3(CHRNB1):c.1198C>G (p.Leu400Val)
NM_000747.3(CHRNB1):c.1205C>G (p.Pro402Arg)
NM_000747.3(CHRNB1):c.1217+15G>T
NM_000747.3(CHRNB1):c.1218-3C>T rs886053404
NM_000747.3(CHRNB1):c.1230_1244dup (p.Pro414_Asp415insGluLeuSerAlaPro)
NM_000747.3(CHRNB1):c.1234T>C (p.Ser412Pro)
NM_000747.3(CHRNB1):c.1245_1247delinsATC (p.Asp415_Leu416delinsGluSer)
NM_000747.3(CHRNB1):c.1268C>T (p.Pro423Leu)
NM_000747.3(CHRNB1):c.1279G>A (p.Val427Met)
NM_000747.3(CHRNB1):c.1292del (p.Pro431fs) rs1239393228
NM_000747.3(CHRNB1):c.1306G>T (p.Val436Phe)
NM_000747.3(CHRNB1):c.1307T>A (p.Val436Asp) rs1597755409
NM_000747.3(CHRNB1):c.1322G>A (p.Ser441Asn)
NM_000747.3(CHRNB1):c.133G>A (p.Ala45Thr)
NM_000747.3(CHRNB1):c.1364C>A (p.Ala455Glu) rs777159945
NM_000747.3(CHRNB1):c.1365+5del rs2069945881
NM_000747.3(CHRNB1):c.137G>A (p.Arg46Gln)
NM_000747.3(CHRNB1):c.1380G>A (p.Trp460Ter)
NM_000747.3(CHRNB1):c.13G>A (p.Ala5Thr)
NM_000747.3(CHRNB1):c.1405C>T (p.Arg469Cys)
NM_000747.3(CHRNB1):c.1406G>A (p.Arg469His) rs762250406
NM_000747.3(CHRNB1):c.1420A>G (p.Thr474Ala)
NM_000747.3(CHRNB1):c.1453G>A (p.Val485Ile) rs2150843850
NM_000747.3(CHRNB1):c.145G>A (p.Gly49Arg) rs776235550
NM_000747.3(CHRNB1):c.1472C>T (p.Thr491Met)
NM_000747.3(CHRNB1):c.1481T>C (p.Leu494Ser)
NM_000747.3(CHRNB1):c.1497del (p.Pro501fs) rs749511394
NM_000747.3(CHRNB1):c.165C>G (p.Ser55Arg)
NM_000747.3(CHRNB1):c.172C>T (p.Leu58Phe)
NM_000747.3(CHRNB1):c.185A>C (p.Gln62Pro) rs1908562302
NM_000747.3(CHRNB1):c.198+15G>T
NM_000747.3(CHRNB1):c.198+3G>T rs1555551725
NM_000747.3(CHRNB1):c.198+8C>T rs1452929919
NM_000747.3(CHRNB1):c.1A>G (p.Met1Val) rs1064795835
NM_000747.3(CHRNB1):c.214G>A (p.Glu72Lys) rs1908599255
NM_000747.3(CHRNB1):c.216G>C (p.Glu72Asp)
NM_000747.3(CHRNB1):c.233A>G (p.Tyr78Cys)
NM_000747.3(CHRNB1):c.23T>G (p.Met8Arg)
NM_000747.3(CHRNB1):c.241C>G (p.Leu81Val)
NM_000747.3(CHRNB1):c.257A>G (p.Tyr86Cys) rs1555551838
NM_000747.3(CHRNB1):c.271G>A (p.Asp91Asn)
NM_000747.3(CHRNB1):c.286G>C (p.Asp96His) rs778968747
NM_000747.3(CHRNB1):c.288C>A (p.Asp96Glu)
NM_000747.3(CHRNB1):c.290_291delinsAA (p.Gly97Glu) rs2150838192
NM_000747.3(CHRNB1):c.299C>T (p.Ser100Leu)
NM_000747.3(CHRNB1):c.29TGGGGGCGC[1] (p.10LGA[1])
NM_000747.3(CHRNB1):c.301C>T (p.Leu101Phe) rs1908655813
NM_000747.3(CHRNB1):c.304C>T (p.Arg102Cys) rs953970739
NM_000747.3(CHRNB1):c.305G>T (p.Arg102Leu) rs201915086
NM_000747.3(CHRNB1):c.309C>G (p.Ile103Met)
NM_000747.3(CHRNB1):c.31G>A (p.Gly11Arg) rs1908543374
NM_000747.3(CHRNB1):c.327G>C (p.Trp109Cys)
NM_000747.3(CHRNB1):c.347T>C (p.Leu116Pro) rs1460616970
NM_000747.3(CHRNB1):c.353+5_353+7del
NM_000747.3(CHRNB1):c.354C>T (p.Asn118=)
NM_000747.3(CHRNB1):c.361G>C (p.Gly121Arg) rs1908667282
NM_000747.3(CHRNB1):c.36_37delinsAA (p.Leu13Met) rs1555551699
NM_000747.3(CHRNB1):c.386T>C (p.Ile129Thr) rs762779280
NM_000747.3(CHRNB1):c.38T>C (p.Leu13Pro)
NM_000747.3(CHRNB1):c.398T>C (p.Val133Ala) rs1028135504
NM_000747.3(CHRNB1):c.404C>T (p.Ser135Phe)
NM_000747.3(CHRNB1):c.406G>T (p.Asp136Tyr)
NM_000747.3(CHRNB1):c.40_48del (p.Gly14_Pro16del) rs1250653617
NM_000747.3(CHRNB1):c.427C>A (p.Pro143Thr)
NM_000747.3(CHRNB1):c.433G>A (p.Gly145Ser)
NM_000747.3(CHRNB1):c.44C>G (p.Ala15Gly) rs75926342
NM_000747.3(CHRNB1):c.485G>C (p.Trp162Ser)
NM_000747.3(CHRNB1):c.504G>T (p.Val168=)
NM_000747.3(CHRNB1):c.506T>G (p.Phe169Cys) rs1567677415
NM_000747.3(CHRNB1):c.512C>G (p.Ser171Cys)
NM_000747.3(CHRNB1):c.515A>G (p.Tyr172Cys)
NM_000747.3(CHRNB1):c.523G>A (p.Asp175Asn)
NM_000747.3(CHRNB1):c.53C>G (p.Ala18Gly) rs534380483
NM_000747.3(CHRNB1):c.557G>A (p.Gly186Asp)
NM_000747.3(CHRNB1):c.58+4A>G
NM_000747.3(CHRNB1):c.59-3_60dup
NM_000747.3(CHRNB1):c.593A>C (p.His198Pro)
NM_000747.3(CHRNB1):c.631A>G (p.Ile211Val) rs1908757011
NM_000747.3(CHRNB1):c.667G>A (p.Asp223Asn)
NM_000747.3(CHRNB1):c.670C>A (p.Pro224Thr)
NM_000747.3(CHRNB1):c.689G>A (p.Gly230Glu)
NM_000747.3(CHRNB1):c.695G>A (p.Arg232His)
NM_000747.3(CHRNB1):c.695G>T (p.Arg232Leu) rs202080837
NM_000747.3(CHRNB1):c.715C>T (p.Leu239Phe)
NM_000747.3(CHRNB1):c.719T>A (p.Ile240Asn) rs2150839386
NM_000747.3(CHRNB1):c.71C>T (p.Ser24Leu)
NM_000747.3(CHRNB1):c.725G>T (p.Arg242Leu) rs79220301
NM_000747.3(CHRNB1):c.754G>T (p.Val252Phe) rs751045224
NM_000747.3(CHRNB1):c.766T>C (p.Cys256Arg)
NM_000747.3(CHRNB1):c.775A>T (p.Ile259Phe) rs1908768345
NM_000747.3(CHRNB1):c.793T>G (p.Phe265Val) rs1908769177
NM_000747.3(CHRNB1):c.796G>A (p.Val266Ile)
NM_000747.3(CHRNB1):c.801C>G (p.Phe267Leu) rs1908769664
NM_000747.3(CHRNB1):c.808C>A (p.Pro270Thr) rs749302262
NM_000747.3(CHRNB1):c.859C>G (p.Leu287Val)
NM_000747.3(CHRNB1):c.901A>G (p.Thr301Ala)
NM_000747.3(CHRNB1):c.92G>A (p.Arg31Gln)
NM_000747.3(CHRNB1):c.956T>C (p.Val319Ala) rs1908998622
NM_000747.3(CHRNB1):c.959C>T (p.Thr320Ile)
NM_000747.3(CHRNB1):c.963C>G (p.Phe321Leu)
NM_000747.3(CHRNB1):c.979G>A (p.Val327Ile)
NM_000747.3(CHRNB1):c.982G>A (p.Val328Met) rs865958957
NM_001145536.2(C17orf107):c.*1095G>A
NM_001145536.2(C17orf107):c.*1897A>T
NM_001171613.2(PREPL):c.-29A>G
NM_001171613.2(PREPL):c.-2A>G rs2104023319
NM_001171613.2(PREPL):c.-36G>C rs147513483
NM_001171613.2(PREPL):c.-49+1665A>C rs766377212
NM_001171613.2(PREPL):c.-49+1665A>G rs766377212
NM_001171613.2(PREPL):c.-49+1676G>C rs760360976
NM_001171613.2(PREPL):c.-49+1689C>T rs2104272169
NM_001171613.2(PREPL):c.-49+1696C>A
NM_001171613.2(PREPL):c.-49+1719C>T
NM_001171613.2(PREPL):c.-49+1743C>T
NM_001171613.2(PREPL):c.-49+1749A>T rs1211012506
NM_001171613.2(PREPL):c.-49+1761T>G
NM_001171613.2(PREPL):c.-49+1765C>T
NM_001171613.2(PREPL):c.-49+1783G>C rs1572594874
NM_001171613.2(PREPL):c.-49+1784A>T rs773880492
NM_001171613.2(PREPL):c.-49+1806C>A rs749323802
NM_001171613.2(PREPL):c.-49+1810C>G
NM_001171613.2(PREPL):c.-49+1830C>T
NM_001171613.2(PREPL):c.-49+1839T>A
NM_001171613.2(PREPL):c.-49+1840C>T
NM_001171613.2(PREPL):c.-49+1867G>A
NM_001171613.2(PREPL):c.1013T>C (p.Leu338Pro) rs750867025
NM_001171613.2(PREPL):c.1022A>G (p.Glu341Gly) rs1674225235
NM_001171613.2(PREPL):c.1033G>A (p.Glu345Lys)
NM_001171613.2(PREPL):c.1038C>G (p.Asp346Glu) rs1674223059
NM_001171613.2(PREPL):c.1067G>A (p.Arg356His)
NM_001171613.2(PREPL):c.1067G>T (p.Arg356Leu)
NM_001171613.2(PREPL):c.1087G>T (p.Asp363Tyr)
NM_001171613.2(PREPL):c.1106T>C (p.Met369Thr)
NM_001171613.2(PREPL):c.1111G>A (p.Val371Ile)
NM_001171613.2(PREPL):c.1137C>G (p.Asp379Glu)
NM_001171613.2(PREPL):c.1153C>T (p.Leu385Phe)
NM_001171613.2(PREPL):c.1175C>G (p.Ala392Gly)
NM_001171613.2(PREPL):c.1214G>A (p.Arg405Lys)
NM_001171613.2(PREPL):c.1217G>A (p.Arg406Gln)
NM_001171613.2(PREPL):c.1235G>T (p.Gly412Val) rs1673812684
NM_001171613.2(PREPL):c.1237T>C (p.Trp413Arg)
NM_001171613.2(PREPL):c.1240A>T (p.Ile414Leu) rs2103785706
NM_001171613.2(PREPL):c.1242A>G (p.Ile414Met)
NM_001171613.2(PREPL):c.125G>A (p.Arg42His)
NM_001171613.2(PREPL):c.1263-7A>G
NM_001171613.2(PREPL):c.1264G>A (p.Gly422Ser) rs1470419476
NM_001171613.2(PREPL):c.1293C>A (p.His431Gln)
NM_001171613.2(PREPL):c.1295C>T (p.Ala432Val)
NM_001171613.2(PREPL):c.1312A>G (p.Lys438Glu) rs1673555028
NM_001171613.2(PREPL):c.1355C>T (p.Thr452Met) rs774180242
NM_001171613.2(PREPL):c.1360C>T (p.His454Tyr)
NM_001171613.2(PREPL):c.1369G>A (p.Gly457Ser) rs2103751191
NM_001171613.2(PREPL):c.1409G>A (p.Ser470Asn) rs2103750576
NM_001171613.2(PREPL):c.1413T>A (p.Ala471=)
NM_001171613.2(PREPL):c.142+5dup
NM_001171613.2(PREPL):c.142G>A (p.Ala48Thr) rs267599387
NM_001171613.2(PREPL):c.143-3C>A
NM_001171613.2(PREPL):c.143-3C>T rs545943181
NM_001171613.2(PREPL):c.1433C>T (p.Ala478Val) rs1202291365
NM_001171613.2(PREPL):c.1436T>C (p.Leu479Ser)
NM_001171613.2(PREPL):c.1445C>A (p.Ser482Tyr) rs13402626
NM_001171613.2(PREPL):c.1445C>T (p.Ser482Phe)
NM_001171613.2(PREPL):c.1512G>T (p.Met504Ile) rs1396221301
NM_001171613.2(PREPL):c.1514A>G (p.Asp505Gly) rs772992697
NM_001171613.2(PREPL):c.1568C>G (p.Ser523Cys) rs1673168126
NM_001171613.2(PREPL):c.1594A>G (p.Lys532Glu)
NM_001171613.2(PREPL):c.1598G>A (p.Arg533His) rs375292548
NM_001171613.2(PREPL):c.1624C>T (p.Pro542Ser) rs1436277134
NM_001171613.2(PREPL):c.1629+5T>G rs777121021
NM_001171613.2(PREPL):c.1630-4_1630-3delinsAT rs1673117158
NM_001171613.2(PREPL):c.1630-5T>C rs2103687602
NM_001171613.2(PREPL):c.1636C>A (p.Pro546Thr)
NM_001171613.2(PREPL):c.1666G>T (p.Asp556Tyr)
NM_001171613.2(PREPL):c.1688G>A (p.Gly563Glu)
NM_001171613.2(PREPL):c.1691T>C (p.Ile564Thr)
NM_001171613.2(PREPL):c.1725C>G (p.Ile575Met)
NM_001171613.2(PREPL):c.1763C>G (p.Thr588Ser) rs1672994938
NM_001171613.2(PREPL):c.1771ATT[1] (p.Ile592del) rs777599665
NM_001171613.2(PREPL):c.1784T>C (p.Ile595Thr)
NM_001171613.2(PREPL):c.1792G>C (p.Gly598Arg) rs1672990690
NM_001171613.2(PREPL):c.1798A>C (p.Asn600His) rs770897811
NM_001171613.2(PREPL):c.1799A>G (p.Asn600Ser)
NM_001171613.2(PREPL):c.179A>G (p.Glu60Gly) rs1207275366
NM_001171613.2(PREPL):c.1815T>G (p.Asp605Glu) rs2103667636
NM_001171613.2(PREPL):c.1827+3A>G rs1228947728
NM_001171613.2(PREPL):c.1827+5G>A rs1672986669
NM_001171613.2(PREPL):c.1828-3_1828-2insCACAAATGTCCTATCTATGGGTGAGACCCAGGAGGGGAGGGAGGGACACTGTGTCAATCAAG
NM_001171613.2(PREPL):c.1839A>C (p.Gln613His) rs574404474
NM_001171613.2(PREPL):c.1839A>T (p.Gln613His) rs574404474
NM_001171613.2(PREPL):c.1850T>C (p.Leu617Pro) rs537620020
NM_001171613.2(PREPL):c.1870G>C (p.Asp624His) rs969589260
NM_001171613.2(PREPL):c.1882G>T (p.Val628Phe) rs1433913896
NM_001171613.2(PREPL):c.1905C>A (p.Tyr635Ter) rs759556547
NM_001171613.2(PREPL):c.211T>A (p.Cys71Ser)
NM_001171613.2(PREPL):c.220G>C (p.Val74Leu) rs370857739
NM_001171613.2(PREPL):c.221T>G (p.Val74Gly) rs1572895694
NM_001171613.2(PREPL):c.229G>C (p.Asp77His)
NM_001171613.2(PREPL):c.238T>C (p.Tyr80His) rs2103986081
NM_001171613.2(PREPL):c.241G>T (p.Val81Leu)
NM_001171613.2(PREPL):c.252G>C (p.Lys84Asn)
NM_001171613.2(PREPL):c.280A>G (p.Thr94Ala)
NM_001171613.2(PREPL):c.292A>G (p.Ile98Val) rs2103985444
NM_001171613.2(PREPL):c.304G>A (p.Asp102Asn) rs761397318
NM_001171613.2(PREPL):c.304G>C (p.Asp102His)
NM_001171613.2(PREPL):c.31T>G (p.Leu11Val) rs2104022746
NM_001171613.2(PREPL):c.326C>G (p.Ser109Cys)
NM_001171613.2(PREPL):c.348T>G (p.Phe116Leu) rs768746948
NM_001171613.2(PREPL):c.355G>T (p.Val119Leu) rs1675337911
NM_001171613.2(PREPL):c.380T>C (p.Val127Ala) rs2103969323
NM_001171613.2(PREPL):c.3G>T (p.Met1Ile) rs768841224
NM_001171613.2(PREPL):c.402G>C (p.Arg134Ser) rs769834327
NM_001171613.2(PREPL):c.405C>A (p.Asn135Lys) rs1675332417
NM_001171613.2(PREPL):c.406C>G (p.Leu136Val) rs1675332243
NM_001171613.2(PREPL):c.409C>T (p.Arg137Cys)
NM_001171613.2(PREPL):c.416A>C (p.His139Pro)
NM_001171613.2(PREPL):c.421G>A (p.Val141Ile)
NM_001171613.2(PREPL):c.425A>T (p.Tyr142Phe) rs778744293
NM_001171613.2(PREPL):c.434C>G (p.Thr145Ser)
NM_001171613.2(PREPL):c.440G>C (p.Gly147Ala)
NM_001171613.2(PREPL):c.470C>G (p.Thr157Arg) rs374720840
NM_001171613.2(PREPL):c.485+4del
NM_001171613.2(PREPL):c.505C>G (p.Leu169Val) rs532684912
NM_001171613.2(PREPL):c.505C>T (p.Leu169Phe)
NM_001171613.2(PREPL):c.509C>T (p.Thr170Ile) rs1674971927
NM_001171613.2(PREPL):c.520C>G (p.Arg174Gly)
NM_001171613.2(PREPL):c.521G>A (p.Arg174His) rs145964404
NM_001171613.2(PREPL):c.521G>C (p.Arg174Pro) rs145964404
NM_001171613.2(PREPL):c.521G>T (p.Arg174Leu) rs145964404
NM_001171613.2(PREPL):c.539T>G (p.Ile180Ser)
NM_001171613.2(PREPL):c.546C>A (p.Asn182Lys) rs200837029
NM_001171613.2(PREPL):c.572T>G (p.Ile191Arg) rs1363159797
NM_001171613.2(PREPL):c.574G>A (p.Asp192Asn)
NM_001171613.2(PREPL):c.595C>G (p.Pro199Ala)
NM_001171613.2(PREPL):c.608T>C (p.Ile203Thr) rs947027506
NM_001171613.2(PREPL):c.623A>G (p.His208Arg)
NM_001171613.2(PREPL):c.638A>C (p.Tyr213Ser) rs947243243
NM_001171613.2(PREPL):c.640G>C (p.Val214Leu)
NM_001171613.2(PREPL):c.641T>A (p.Val214Asp)
NM_001171613.2(PREPL):c.652G>A (p.Asp218Asn)
NM_001171613.2(PREPL):c.657T>G (p.Asp219Glu) rs762650967
NM_001171613.2(PREPL):c.68A>C (p.Asn23Thr) rs138377728
NM_001171613.2(PREPL):c.699T>G (p.Phe233Leu)
NM_001171613.2(PREPL):c.703-15C>G
NM_001171613.2(PREPL):c.721G>A (p.Asp241Asn) rs1674871167
NM_001171613.2(PREPL):c.725C>G (p.Thr242Ser)
NM_001171613.2(PREPL):c.727C>A (p.Pro243Thr) rs760265313
NM_001171613.2(PREPL):c.727C>T (p.Pro243Ser)
NM_001171613.2(PREPL):c.75+5G>C
NM_001171613.2(PREPL):c.775A>G (p.Lys259Glu)
NM_001171613.2(PREPL):c.778G>T (p.Val260Leu) rs1674865285
NM_001171613.2(PREPL):c.826C>T (p.His276Tyr) rs1456483986
NM_001171613.2(PREPL):c.850G>A (p.Val284Met) rs774240653
NM_001171613.2(PREPL):c.874G>C (p.Val292Leu)
NM_001171613.2(PREPL):c.877C>T (p.Arg293Trp) rs745708452
NM_001171613.2(PREPL):c.888+4del rs2103912340
NM_001171613.2(PREPL):c.889-11T>A
NM_001171613.2(PREPL):c.908G>A (p.Gly303Glu) rs1253183224
NM_001171613.2(PREPL):c.915A>G (p.Ile305Met)
NM_001171613.2(PREPL):c.920A>T (p.Asp307Val) rs1674235649
NM_001171613.2(PREPL):c.932A>G (p.Asp311Gly)
NM_001171613.2(PREPL):c.934C>T (p.Pro312Ser)
NM_001171613.2(PREPL):c.939G>T (p.Lys313Asn)
NM_001171613.2(PREPL):c.970C>T (p.Arg324Cys) rs770607340
NM_001171613.2(PREPL):c.971G>T (p.Arg324Leu) rs374093145
NM_001171613.2(PREPL):c.97T>G (p.Tyr33Asp)
NM_001171613.2(PREPL):c.981A>G (p.Lys327=) rs2103839067
NM_001171613.2(PREPL):c.983A>G (p.Tyr328Cys)
NM_001244710.2(GFPT1):c.*22C>T rs199678034
NM_001244710.2(GFPT1):c.1074G>A (p.Met358Ile)
NM_001244710.2(GFPT1):c.1079G>A (p.Gly360Glu)
NM_001244710.2(GFPT1):c.107A>G (p.Asp36Gly)
NM_001244710.2(GFPT1):c.1103C>T (p.Thr368Ile)
NM_001244710.2(GFPT1):c.1105G>A (p.Val369Met)
NM_001244710.2(GFPT1):c.1154G>A (p.Arg385Gln) rs1670968909
NM_001244710.2(GFPT1):c.115G>A (p.Gly39Ser) rs1671812593
NM_001244710.2(GFPT1):c.1178G>C (p.Gly393Ala) rs1553388425
NM_001244710.2(GFPT1):c.1183A>G (p.Ser395Gly) rs1553388422
NM_001244710.2(GFPT1):c.1187A>T (p.Tyr396Phe) rs1553388418
NM_001244710.2(GFPT1):c.1204-3C>T rs1307653021
NM_001244710.2(GFPT1):c.1243A>G (p.Met415Val) rs1670858310
NM_001244710.2(GFPT1):c.1255G>T (p.Ala419Ser) rs2104617186
NM_001244710.2(GFPT1):c.1309T>A (p.Phe437Ile) rs766450555
NM_001244710.2(GFPT1):c.1309T>C (p.Phe437Leu) rs766450555
NM_001244710.2(GFPT1):c.1339A>G (p.Thr447Ala) rs1287808167
NM_001244710.2(GFPT1):c.1345A>T (p.Met449Leu)
NM_001244710.2(GFPT1):c.134_154dup (p.Gly45_Glu51dup) rs1558773904
NM_001244710.2(GFPT1):c.1359_1361del (p.Cys454del)
NM_001244710.2(GFPT1):c.137A>G (p.Asn46Ser)
NM_001244710.2(GFPT1):c.1384G>T (p.Val462Leu)
NM_001244710.2(GFPT1):c.1412C>T (p.Ser471Phe) rs1670840972
NM_001244710.2(GFPT1):c.145G>T (p.Asp49Tyr)
NM_001244710.2(GFPT1):c.1519G>T (p.Ala507Ser) rs1670617199
NM_001244710.2(GFPT1):c.1534G>A (p.Asp512Asn) rs1553386276
NM_001244710.2(GFPT1):c.1540C>T (p.Arg514Trp) rs2104600845
NM_001244710.2(GFPT1):c.1561C>T (p.Arg521Cys) rs1421146245
NM_001244710.2(GFPT1):c.158A>G (p.Asn53Ser)
NM_001244710.2(GFPT1):c.1685G>A (p.Gly562Glu)
NM_001244710.2(GFPT1):c.1705A>C (p.Thr569Pro)
NM_001244710.2(GFPT1):c.1837A>G (p.Arg613Gly)
NM_001244710.2(GFPT1):c.1898G>A (p.Arg633Gln) rs2104595615
NM_001244710.2(GFPT1):c.1922A>G (p.Glu641Gly) rs1670547736
NM_001244710.2(GFPT1):c.1925A>T (p.Asp642Val) rs1553385828
NM_001244710.2(GFPT1):c.1927A>G (p.Thr643Ala) rs772026265
NM_001244710.2(GFPT1):c.1936A>G (p.Ile646Val) rs1574039131
NM_001244710.2(GFPT1):c.1955C>G (p.Thr652Arg) rs781377676
NM_001244710.2(GFPT1):c.1955C>T (p.Thr652Met) rs781377676
NM_001244710.2(GFPT1):c.1970A>G (p.His657Arg) rs2104595457
NM_001244710.2(GFPT1):c.1997T>C (p.Leu666Pro) rs1670545826
NM_001244710.2(GFPT1):c.2005A>T (p.Ile669Phe) rs2104595390
NM_001244710.2(GFPT1):c.221A>C (p.His74Pro) rs1671705543
NM_001244710.2(GFPT1):c.223+6G>A rs1295165260
NM_001244710.2(GFPT1):c.239A>G (p.Asp80Gly) rs1671535131
NM_001244710.2(GFPT1):c.247A>G (p.Ile83Val)
NM_001244710.2(GFPT1):c.283C>T (p.Arg95Cys)
NM_001244710.2(GFPT1):c.29A>G (p.Tyr10Cys) rs1553393940
NM_001244710.2(GFPT1):c.305C>A (p.Pro102His) rs1574074621
NM_001244710.2(GFPT1):c.305C>G (p.Pro102Arg) rs1574074621
NM_001244710.2(GFPT1):c.314T>G (p.Val105Gly) rs929836832
NM_001244710.2(GFPT1):c.329A>G (p.Gln110Arg) rs886056261
NM_001244710.2(GFPT1):c.330_331delinsAG (p.Arg111Gly) rs1671532532
NM_001244710.2(GFPT1):c.338A>G (p.Asp113Gly) rs539052842
NM_001244710.2(GFPT1):c.350-3T>C
NM_001244710.2(GFPT1):c.368A>G (p.Asn123Ser) rs1671414273
NM_001244710.2(GFPT1):c.396G>C (p.Leu132Phe)
NM_001244710.2(GFPT1):c.403T>G (p.Phe135Val)
NM_001244710.2(GFPT1):c.461A>G (p.Lys154Arg)
NM_001244710.2(GFPT1):c.487C>T (p.Arg163Trp)
NM_001244710.2(GFPT1):c.491A>G (p.Glu164Gly) rs2104655675
NM_001244710.2(GFPT1):c.505A>G (p.Ser169Gly) rs2104655632
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001244710.2(GFPT1):c.547G>A (p.Gly183Ser)
NM_001244710.2(GFPT1):c.586G>A (p.Gly196Arg) rs370171865
NM_001244710.2(GFPT1):c.587G>A (p.Gly196Glu)
NM_001244710.2(GFPT1):c.611G>A (p.Gly204Asp) rs2104648108
NM_001244710.2(GFPT1):c.632T>A (p.Val211Glu) rs1671287962
NM_001244710.2(GFPT1):c.644A>G (p.His215Arg)
NM_001244710.2(GFPT1):c.649C>G (p.Leu217Val) rs2104648017
NM_001244710.2(GFPT1):c.652T>C (p.Ser218Pro)
NM_001244710.2(GFPT1):c.655A>G (p.Thr219Ala)
NM_001244710.2(GFPT1):c.697A>G (p.Ile233Val) rs2104647589
NM_001244710.2(GFPT1):c.6T>G (p.Cys2Trp) rs1164347284
NM_001244710.2(GFPT1):c.740-11A>G rs769311395
NM_001244710.2(GFPT1):c.740-8T>C rs2104639173
NM_001244710.2(GFPT1):c.806A>G (p.Glu269Gly) rs2104639027
NM_001244710.2(GFPT1):c.845+6C>T rs767647134
NM_001244710.2(GFPT1):c.902C>T (p.Ala301Val) rs372840289
NM_001244710.2(GFPT1):c.911A>C (p.Asp304Ala) rs2104635949
NM_001244710.2(GFPT1):c.929A>T (p.His310Leu) rs1553389515
NM_001244710.2(GFPT1):c.938A>G (p.Lys313Arg)
NM_001244710.2(GFPT1):c.93G>C (p.Glu31Asp) rs1671813015
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) rs1946418638
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T rs1592225596
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) rs1475939080
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) rs980077282
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser) rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) rs2134897889
NM_001382.4(DPAGT1):c.1161+5G>A rs1946410970
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) rs2134897349
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) rs1274896616
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) rs781224323
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) rs1946489072
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) rs1946485389
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) rs1386440899
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) rs1221039307
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) rs765676413
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=) rs2134901634
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe) rs1946426502
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.918-10C>A rs764154648
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
NM_002334.4(LRP4):c.1097C>T (p.Ala366Val) rs1941521066
NM_002334.4(LRP4):c.1110G>T (p.Gln370His)
NM_002334.4(LRP4):c.1112T>C (p.Met371Thr) rs1164240481
NM_002334.4(LRP4):c.1118G>C (p.Arg373Pro)
NM_002334.4(LRP4):c.1126G>A (p.Val376Met) rs1243051904
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu) rs2134851507
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
NM_002334.4(LRP4):c.1237G>A (p.Glu413Lys)
NM_002334.4(LRP4):c.1279C>T (p.Arg427Trp)
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln) rs569764064
NM_002334.4(LRP4):c.1289G>A (p.Arg430Gln)
NM_002334.4(LRP4):c.1309+5G>C
NM_002334.4(LRP4):c.1310-3C>T rs1941491191
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr) rs1023257694
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) rs1555174047
NM_002334.4(LRP4):c.1436G>A (p.Arg479His)
NM_002334.4(LRP4):c.1436G>T (p.Arg479Leu)
NM_002334.4(LRP4):c.143A>G (p.Gln48Arg)
NM_002334.4(LRP4):c.1487A>G (p.Asn496Ser) rs746759136
NM_002334.4(LRP4):c.1488C>A (p.Asn496Lys) rs779961860
NM_002334.4(LRP4):c.1490T>G (p.Leu497Arg)
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile) rs769948678
NM_002334.4(LRP4):c.1540+3A>G rs2134849214
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
NM_002334.4(LRP4):c.162C>G (p.Asp54Glu)
NM_002334.4(LRP4):c.1634G>A (p.Arg545Gln)
NM_002334.4(LRP4):c.1657C>G (p.Leu553Val) rs751911145
NM_002334.4(LRP4):c.1670G>A (p.Arg557Gln)
NM_002334.4(LRP4):c.1698-9_1698-5del rs1941399170
NM_002334.4(LRP4):c.1714G>A (p.Asp572Asn)
NM_002334.4(LRP4):c.1730C>T (p.Pro577Leu) rs1941398250
NM_002334.4(LRP4):c.1733G>A (p.Arg578His)
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp) rs1190494235
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) rs2134837991
NM_002334.4(LRP4):c.2081G>A (p.Arg694His) rs1406466481
NM_002334.4(LRP4):c.2090C>T (p.Ala697Val)
NM_002334.4(LRP4):c.2092+5A>G
NM_002334.4(LRP4):c.2113A>G (p.Asn705Asp)
NM_002334.4(LRP4):c.2113AAC[1] (p.Asn706del) rs1565792675
NM_002334.4(LRP4):c.2119G>A (p.Gly707Arg) rs1382055371
NM_002334.4(LRP4):c.2201A>C (p.His734Pro)
NM_002334.4(LRP4):c.2213A>C (p.Gln738Pro)
NM_002334.4(LRP4):c.2213A>G (p.Gln738Arg)
NM_002334.4(LRP4):c.2215+5G>A rs1941370233
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
NM_002334.4(LRP4):c.2381C>T (p.Thr794Ile) rs2134828263
NM_002334.4(LRP4):c.2387C>A (p.Thr796Asn) rs753109967
NM_002334.4(LRP4):c.2531A>G (p.Asn844Ser) rs2134821602
NM_002334.4(LRP4):c.2534C>T (p.Thr845Ile)
NM_002334.4(LRP4):c.2543G>C (p.Ser848Thr)
NM_002334.4(LRP4):c.2551A>G (p.Thr851Ala) rs2134821502
NM_002334.4(LRP4):c.256C>T (p.Arg86Cys)
NM_002334.4(LRP4):c.2579G>A (p.Arg860His)
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile) rs1370824030
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
NM_002334.4(LRP4):c.2617A>G (p.Met873Val)
NM_002334.4(LRP4):c.2626A>C (p.Thr876Pro) rs1592529316
NM_002334.4(LRP4):c.2735A>T (p.Tyr912Phe) rs756941634
NM_002334.4(LRP4):c.274G>C (p.Gly92Arg)
NM_002334.4(LRP4):c.2758G>A (p.Ala920Thr) rs1486508644
NM_002334.4(LRP4):c.2770A>G (p.Met924Val) rs1247727700
NM_002334.4(LRP4):c.2774A>G (p.Lys925Arg)
NM_002334.4(LRP4):c.2786T>G (p.Phe929Cys)
NM_002334.4(LRP4):c.2815-11G>T
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
NM_002334.4(LRP4):c.2989C>T (p.Arg997Cys)
NM_002334.4(LRP4):c.2990G>A (p.Arg997His)
NM_002334.4(LRP4):c.2995C>T (p.Arg999Trp)
NM_002334.4(LRP4):c.2996G>A (p.Arg999Gln)
NM_002334.4(LRP4):c.3002C>G (p.Pro1001Arg)
NM_002334.4(LRP4):c.3020C>A (p.Ala1007Asp) rs2134807106
NM_002334.4(LRP4):c.3022A>G (p.Met1008Val) rs886048352
NM_002334.4(LRP4):c.3049T>C (p.Cys1017Arg) rs2134807022
NM_002334.4(LRP4):c.3062C>G (p.Pro1021Arg)
NM_002334.4(LRP4):c.3067C>A (p.Pro1023Thr)
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn) rs2134865411
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) rs2134802507
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu) rs2134864767
NM_002334.4(LRP4):c.3255_3256delinsAC (p.Ile1086Leu) rs1555172311
NM_002334.4(LRP4):c.3267C>A (p.Asp1089Glu)
NM_002334.4(LRP4):c.3268C>T (p.Pro1090Ser)
NM_002334.4(LRP4):c.3272A>G (p.Gln1091Arg)
NM_002334.4(LRP4):c.3275A>G (p.Glu1092Gly)
NM_002334.4(LRP4):c.3277+5G>A rs374900441
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
NM_002334.4(LRP4):c.3343C>A (p.His1115Asn)
NM_002334.4(LRP4):c.3345T>A (p.His1115Gln)
NM_002334.4(LRP4):c.3349G>A (p.Asp1117Asn)
NM_002334.4(LRP4):c.3364+3G>A
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
NM_002334.4(LRP4):c.3406C>T (p.Arg1136Trp) rs777439267
NM_002334.4(LRP4):c.3451G>A (p.Gly1151Ser) rs1941024656
NM_002334.4(LRP4):c.3452G>A (p.Gly1151Asp)
NM_002334.4(LRP4):c.3454A>G (p.Asn1152Asp)
NM_002334.4(LRP4):c.3455A>T (p.Asn1152Ile)
NM_002334.4(LRP4):c.3504T>G (p.Ser1168Arg) rs2134799809
NM_002334.4(LRP4):c.3551C>T (p.Thr1184Ile) rs2134798449
NM_002334.4(LRP4):c.3554A>T (p.Asp1185Val)
NM_002334.4(LRP4):c.3557G>C (p.Trp1186Ser) rs387906883
NM_002334.4(LRP4):c.3557G>T (p.Trp1186Leu)
NM_002334.4(LRP4):c.356A>T (p.Asn119Ile)
NM_002334.4(LRP4):c.3571A>C (p.Lys1191Gln)
NM_002334.4(LRP4):c.3613C>T (p.Leu1205Phe)
NM_002334.4(LRP4):c.3641A>G (p.Asn1214Ser) rs1941000568
NM_002334.4(LRP4):c.3642T>G (p.Asn1214Lys)
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
NM_002334.4(LRP4):c.3890T>C (p.Met1297Thr)
NM_002334.4(LRP4):c.3907G>A (p.Asp1303Asn) rs2134796086
NM_002334.4(LRP4):c.3908A>C (p.Asp1303Ala) rs777142871
NM_002334.4(LRP4):c.3911G>A (p.Arg1304Gln)
NM_002334.4(LRP4):c.3925+3G>A rs1217353454
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser) rs756790038
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) rs1565782170
NM_002334.4(LRP4):c.4133A>G (p.His1378Arg)
NM_002334.4(LRP4):c.4144C>T (p.Pro1382Ser) rs765240067
NM_002334.4(LRP4):c.4147G>A (p.Glu1383Lys)
NM_002334.4(LRP4):c.4148A>C (p.Glu1383Ala) rs202151304
NM_002334.4(LRP4):c.4148A>G (p.Glu1383Gly) rs202151304
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys) rs2134793655
NM_002334.4(LRP4):c.4229+4T>C rs1836121973
NM_002334.4(LRP4):c.4234G>A (p.Ala1412Thr) rs2134789997
NM_002334.4(LRP4):c.4264G>C (p.Val1422Leu) rs2134789849
NM_002334.4(LRP4):c.430+4G>A
NM_002334.4(LRP4):c.4346G>A (p.Arg1449Gln)
NM_002334.4(LRP4):c.4397T>C (p.Ile1466Thr)
NM_002334.4(LRP4):c.4400A>G (p.Asn1467Ser) rs886048349
NM_002334.4(LRP4):c.4424C>G (p.Ala1475Gly) rs1314468807
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn) rs1451422777
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
NM_002334.4(LRP4):c.4612C>T (p.Arg1538Trp)
NM_002334.4(LRP4):c.4646G>A (p.Arg1549Gln) rs886048348
NM_002334.4(LRP4):c.4661G>A (p.Ser1554Asn)
NM_002334.4(LRP4):c.4676C>T (p.Pro1559Leu)
NM_002334.4(LRP4):c.4702T>G (p.Trp1568Gly) rs2134778108
NM_002334.4(LRP4):c.4727C>G (p.Thr1576Ser) rs2134778058
NM_002334.4(LRP4):c.4759G>T (p.Gly1587Cys)
NM_002334.4(LRP4):c.4767C>G (p.Asn1589Lys) rs1346806071
NM_002334.4(LRP4):c.4816G>A (p.Val1606Ile) rs2134777729
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg) rs1940786470
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) rs1592515719
NM_002334.4(LRP4):c.489G>C (p.Glu163Asp) rs1941618309
NM_002334.4(LRP4):c.4909T>C (p.Cys1637Arg) rs2134776522
NM_002334.4(LRP4):c.4928C>G (p.Pro1643Arg) rs767372563
NM_002334.4(LRP4):c.4934G>A (p.Ser1645Asn)
NM_002334.4(LRP4):c.4937G>C (p.Arg1646Pro) rs3816614
NM_002334.4(LRP4):c.4937G>T (p.Arg1646Leu) rs3816614
NM_002334.4(LRP4):c.4949T>G (p.Leu1650Arg)
NM_002334.4(LRP4):c.4985C>G (p.Thr1662Ser) rs1384073340
NM_002334.4(LRP4):c.4990A>G (p.Met1664Val) rs1455143794
NM_002334.4(LRP4):c.4991T>C (p.Met1664Thr) rs747440221
NM_002334.4(LRP4):c.5003G>A (p.Ser1668Asn) rs2134774974
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) rs751407728
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5140G>A (p.Val1714Ile) rs1002830453
NM_002334.4(LRP4):c.514G>A (p.Asp172Asn) rs780819863
NM_002334.4(LRP4):c.5162G>A (p.Gly1721Glu) rs2134765636
NM_002334.4(LRP4):c.5168A>G (p.His1723Arg)
NM_002334.4(LRP4):c.5194C>T (p.Leu1732Phe) rs1447336134
NM_002334.4(LRP4):c.5198G>A (p.Ser1733Asn) rs2134765445
NM_002334.4(LRP4):c.52+6C>A
NM_002334.4(LRP4):c.5243+6T>C rs376294734
NM_002334.4(LRP4):c.5259_5267del (p.Lys1753_Asp1756delinsAsn) rs1592509652
NM_002334.4(LRP4):c.525T>A (p.Asp175Glu)
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
NM_002334.4(LRP4):c.5386-12T>C
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
NM_002334.4(LRP4):c.5414AGA[1] (p.Lys1806del) rs769465803
NM_002334.4(LRP4):c.5426T>A (p.Ile1809Asn) rs373162825
NM_002334.4(LRP4):c.5441G>C (p.Cys1814Ser) rs760515633
NM_002334.4(LRP4):c.548-18C>G rs779705585
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
NM_002334.4(LRP4):c.54C>T (p.Gly18=) rs372935440
NM_002334.4(LRP4):c.5500G>C (p.Gly1834Arg) rs142462686
NM_002334.4(LRP4):c.5504dup (p.Leu1836fs)
NM_002334.4(LRP4):c.5506C>G (p.Leu1836Val) rs2134750890
NM_002334.4(LRP4):c.5506C>T (p.Leu1836Phe)
NM_002334.4(LRP4):c.5507T>C (p.Leu1836Pro)
NM_002334.4(LRP4):c.5510T>C (p.Leu1837Pro)
NM_002334.4(LRP4):c.5512C>T (p.Arg1838Trp)
NM_002334.4(LRP4):c.5513G>T (p.Arg1838Leu)
NM_002334.4(LRP4):c.5524T>C (p.Cys1842Arg)
NM_002334.4(LRP4):c.5577C>G (p.Asp1859Glu)
NM_002334.4(LRP4):c.5607G>C (p.Glu1869Asp)
NM_002334.4(LRP4):c.5608C>T (p.Gln1870Ter)
NM_002334.4(LRP4):c.560C>T (p.Pro187Leu)
NM_002334.4(LRP4):c.5633C>T (p.Thr1878Ile) rs1940461595
NM_002334.4(LRP4):c.5678_5682del (p.Trp1893fs)
NM_002334.4(LRP4):c.5698T>C (p.Ser1900Pro)
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
NM_002334.4(LRP4):c.682C>T (p.His228Tyr) rs2134861515
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr) rs770285774
NM_002334.4(LRP4):c.797-3C>T rs1941546855
NM_002334.4(LRP4):c.814G>A (p.Ala272Thr)
NM_002334.4(LRP4):c.820C>G (p.Gln274Glu)
NM_002334.4(LRP4):c.827G>A (p.Arg276His) rs1592543038
NM_002334.4(LRP4):c.83G>A (p.Gly28Asp) rs1183268699
NM_002334.4(LRP4):c.841C>T (p.Arg281Cys)
NM_002334.4(LRP4):c.862C>G (p.Arg288Gly)
NM_002334.4(LRP4):c.863G>A (p.Arg288His)
NM_002334.4(LRP4):c.86G>A (p.Arg29Gln)
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly) rs1941543958
NM_002334.4(LRP4):c.926G>A (p.Ser309Asn)
NM_002334.4(LRP4):c.933A>C (p.Gln311His)
NM_002334.4(LRP4):c.952C>G (p.Leu318Val) rs2134854486
NM_002334.4(LRP4):c.970T>A (p.Cys324Ser) rs2134854401
NM_005055.5(RAPSN):c.1009C>T (p.Arg337Cys) rs549232026
NM_005055.5(RAPSN):c.1030G>A (p.Glu344Lys)
NM_005055.5(RAPSN):c.1040C>G (p.Ala347Gly) rs1252992478
NM_005055.5(RAPSN):c.1062G>C (p.Glu354Asp)
NM_005055.5(RAPSN):c.1069G>C (p.Glu357Gln) rs1595896567
NM_005055.5(RAPSN):c.1092C>T (p.Gly364=) rs778228002
NM_005055.5(RAPSN):c.110C>T (p.Ser37Leu)
NM_005055.5(RAPSN):c.1114G>A (p.Glu372Lys)
NM_005055.5(RAPSN):c.1127G>A (p.Arg376Gln) rs1241928450
NM_005055.5(RAPSN):c.1127G>T (p.Arg376Leu)
NM_005055.5(RAPSN):c.1148C>G (p.Ser383Cys) rs1197895855
NM_005055.5(RAPSN):c.1152C>A (p.His384Gln)
NM_005055.5(RAPSN):c.115C>G (p.Leu39Val)
NM_005055.5(RAPSN):c.115C>T (p.Leu39Phe)
NM_005055.5(RAPSN):c.1165A>C (p.Arg389=)
NM_005055.5(RAPSN):c.1183G>A (p.Gly395Arg) rs768882267
NM_005055.5(RAPSN):c.1183G>T (p.Gly395Trp)
NM_005055.5(RAPSN):c.1210C>T (p.Arg404Cys)
NM_005055.5(RAPSN):c.125G>A (p.Arg42His)
NM_005055.5(RAPSN):c.157C>T (p.His53Tyr) rs2076431469
NM_005055.5(RAPSN):c.173G>A (p.Arg58His) rs373437117
NM_005055.5(RAPSN):c.175T>C (p.Tyr59His) rs1555143594
NM_005055.5(RAPSN):c.176A>G (p.Tyr59Cys) rs2153311689
NM_005055.5(RAPSN):c.192+5G>T
NM_005055.5(RAPSN):c.193-15C>A rs45547231
NM_005055.5(RAPSN):c.205C>G (p.Gln69Glu) rs1565688293
NM_005055.5(RAPSN):c.211G>A (p.Asp71Asn) rs150051760
NM_005055.5(RAPSN):c.232G>A (p.Asp78Asn) rs1198989939
NM_005055.5(RAPSN):c.233A>T (p.Asp78Val) rs1007398586
NM_005055.5(RAPSN):c.248T>A (p.Leu83Gln) rs2076424527
NM_005055.5(RAPSN):c.251A>C (p.Glu84Ala)
NM_005055.5(RAPSN):c.282G>C (p.Glu94Asp)
NM_005055.5(RAPSN):c.290G>A (p.Cys97Tyr) rs2153311318
NM_005055.5(RAPSN):c.29T>C (p.Ile10Thr)
NM_005055.5(RAPSN):c.316T>C (p.Cys106Arg) rs777801296
NM_005055.5(RAPSN):c.325T>G (p.Cys109Gly) rs2076423375
NM_005055.5(RAPSN):c.380T>C (p.Leu127Pro) rs2153311254
NM_005055.5(RAPSN):c.404G>A (p.Gly135Asp)
NM_005055.5(RAPSN):c.445G>A (p.Ala149Thr) rs1198813718
NM_005055.5(RAPSN):c.456_457inv (p.Ala153Thr)
NM_005055.5(RAPSN):c.468TGA[1] (p.Asp158del) rs1595902555
NM_005055.5(RAPSN):c.50A>C (p.Tyr17Ser)
NM_005055.5(RAPSN):c.563A>G (p.Lys188Arg) rs1219888816
NM_005055.5(RAPSN):c.566C>G (p.Ala189Gly) rs121909257
NM_005055.5(RAPSN):c.568G>T (p.Ala190Ser) rs779881502
NM_005055.5(RAPSN):c.581A>G (p.Asn194Ser) rs2076375665
NM_005055.5(RAPSN):c.595G>T (p.Gly199Cys)
NM_005055.5(RAPSN):c.600G>C (p.Trp200Cys)
NM_005055.5(RAPSN):c.621G>C (p.Met207Ile) rs752415268
NM_005055.5(RAPSN):c.668G>A (p.Gly223Asp) rs2153309064
NM_005055.5(RAPSN):c.670_672dup (p.Ser224dup) rs1555142799
NM_005055.5(RAPSN):c.671G>A (p.Ser224Asn)
NM_005055.5(RAPSN):c.674C>T (p.Ala225Val) rs1565684828
NM_005055.5(RAPSN):c.680A>G (p.Glu227Gly)
NM_005055.5(RAPSN):c.691-2_732dup rs2076367688
NM_005055.5(RAPSN):c.724C>G (p.Arg242Gly)
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.731T>C (p.Leu244Pro) rs2076367706
NM_005055.5(RAPSN):c.73G>C (p.Ala25Pro) rs1217675127
NM_005055.5(RAPSN):c.757G>A (p.Ala253Thr) rs2153308622
NM_005055.5(RAPSN):c.770G>A (p.Arg257Gln)
NM_005055.5(RAPSN):c.775C>G (p.Arg259Gly) rs150207592
NM_005055.5(RAPSN):c.784C>G (p.Leu262Val)
NM_005055.5(RAPSN):c.793G>A (p.Ala265Thr) rs200695559
NM_005055.5(RAPSN):c.799C>T (p.Pro267Ser)
NM_005055.5(RAPSN):c.817A>C (p.Met273Leu)
NM_005055.5(RAPSN):c.817A>T (p.Met273Leu) rs1397711588
NM_005055.5(RAPSN):c.832G>A (p.Glu278Lys) rs1418635230
NM_005055.5(RAPSN):c.837C>G (p.Ile279Met) rs755310896
NM_005055.5(RAPSN):c.838G>A (p.Gly280Arg) rs1262674788
NM_005055.5(RAPSN):c.844C>T (p.Arg282Cys)
NM_005055.5(RAPSN):c.845G>T (p.Arg282Leu) rs143668632
NM_005055.5(RAPSN):c.850G>A (p.Gly284Arg) rs1294627986
NM_005055.5(RAPSN):c.902C>T (p.Ala301Val)
NM_005055.5(RAPSN):c.909C>G (p.Asp303Glu)
NM_005055.5(RAPSN):c.912G>A (p.Lys304=) rs1273342588
NM_005055.5(RAPSN):c.919G>C (p.Asp307His) rs1565683625
NM_005055.5(RAPSN):c.926T>G (p.Ile309Ser)
NM_005055.5(RAPSN):c.934G>A (p.Ala312Thr)
NM_005055.5(RAPSN):c.935C>T (p.Ala312Val)
NM_005055.5(RAPSN):c.988T>C (p.Cys330Arg) rs2076338568
NM_005055.5(RAPSN):c.996C>G (p.Ser332Arg) rs1013180221
NM_005055.5(RAPSN):c.997G>A (p.Glu333Lys)
NM_005055.5(RAPSN):c.997G>C (p.Glu333Gln) rs201947904
NM_005592.4(MUSK):c.1024G>A (p.Ala342Thr) rs2077509392
NM_005592.4(MUSK):c.1036G>C (p.Glu346Gln)
NM_005592.4(MUSK):c.1038G>C (p.Glu346Asp) rs764142979
NM_005592.4(MUSK):c.1052T>C (p.Leu351Pro)
NM_005592.4(MUSK):c.1099C>G (p.Arg367Gly) rs201014623
NM_005592.4(MUSK):c.1100G>C (p.Arg367Pro) rs1038479586
NM_005592.4(MUSK):c.1114_1115delinsAA (p.Ala372Asn)
NM_005592.4(MUSK):c.1184G>T (p.Arg395Ile) rs2131956652
NM_005592.4(MUSK):c.119T>C (p.Leu40Ser)
NM_005592.4(MUSK):c.1220C>T (p.Ala407Val)
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
NM_005592.4(MUSK):c.1238T>C (p.Met413Thr) rs930182416
NM_005592.4(MUSK):c.1277T>A (p.Met426Lys) rs368044285
NM_005592.4(MUSK):c.129A>T (p.Glu43Asp) rs2131656584
NM_005592.4(MUSK):c.1324T>A (p.Trp442Arg)
NM_005592.4(MUSK):c.1339T>C (p.Cys447Arg)
NM_005592.4(MUSK):c.1343C>A (p.Ala448Asp)
NM_005592.4(MUSK):c.1384+5G>A rs536529195
NM_005592.4(MUSK):c.13G>A (p.Val5Ile) rs765874906
NM_005592.4(MUSK):c.1420G>A (p.Asp474Asn)
NM_005592.4(MUSK):c.1440CTC[2] (p.Ser485del)
NM_005592.4(MUSK):c.1462G>T (p.Val488Phe)
NM_005592.4(MUSK):c.1472C>T (p.Thr491Ile) rs2132023110
NM_005592.4(MUSK):c.1490T>A (p.Ile497Lys)
NM_005592.4(MUSK):c.1503_1504insACC (p.Met501_Ser502insThr) rs886043719
NM_005592.4(MUSK):c.1540A>C (p.Thr514Pro)
NM_005592.4(MUSK):c.1543C>G (p.Leu515Val) rs1554755295
NM_005592.4(MUSK):c.1556GAA[2] (p.Arg521del) rs774582687
NM_005592.4(MUSK):c.1606C>G (p.Leu536Val)
NM_005592.4(MUSK):c.1613C>G (p.Thr538Arg) rs928134595
NM_005592.4(MUSK):c.1673C>G (p.Pro558Arg) rs369745938
NM_005592.4(MUSK):c.1686C>A (p.Asn562Lys)
NM_005592.4(MUSK):c.1706A>T (p.Glu569Val) rs2077843836
NM_005592.4(MUSK):c.1711C>A (p.Pro571Thr)
NM_005592.4(MUSK):c.1742T>A (p.Ile581Asn)
NM_005592.4(MUSK):c.1751G>A (p.Gly584Glu)
NM_005592.4(MUSK):c.1753G>C (p.Ala585Pro) rs779231840
NM_005592.4(MUSK):c.1778G>C (p.Arg593Thr)
NM_005592.4(MUSK):c.1784C>G (p.Pro595Arg) rs2077898016
NM_005592.4(MUSK):c.1795C>T (p.Pro599Ser) rs2077898173
NM_005592.4(MUSK):c.1804C>T (p.Pro602Ser) rs565780053
NM_005592.4(MUSK):c.1813A>T (p.Met605Leu) rs758777089
NM_005592.4(MUSK):c.1815G>A (p.Met605Ile) rs766640370
NM_005592.4(MUSK):c.1841A>C (p.Glu614Ala)
NM_005592.4(MUSK):c.1847C>G (p.Ser616Trp) rs181652070
NM_005592.4(MUSK):c.1853A>G (p.Asp618Gly)
NM_005592.4(MUSK):c.1856T>C (p.Met619Thr) rs755642035
NM_005592.4(MUSK):c.1865A>T (p.Asp622Val) rs1292312575
NM_005592.4(MUSK):c.1874G>A (p.Arg625Lys) rs2077900685
NM_005592.4(MUSK):c.1896A>T (p.Glu632Asp)
NM_005592.4(MUSK):c.1898T>C (p.Phe633Ser) rs1161007370
NM_005592.4(MUSK):c.1906C>A (p.Pro636Thr)
NM_005592.4(MUSK):c.1912A>C (p.Ile638Leu)
NM_005592.4(MUSK):c.1930G>C (p.Val644Leu) rs2132065378
NM_005592.4(MUSK):c.2023G>A (p.Val675Met)
NM_005592.4(MUSK):c.2065G>A (p.Val689Ile)
NM_005592.4(MUSK):c.207A>T (p.Lys69Asn) rs2076206381
NM_005592.4(MUSK):c.2090T>A (p.Leu697His)
NM_005592.4(MUSK):c.2125G>A (p.Val709Met) rs2132066572
NM_005592.4(MUSK):c.2132C>G (p.Ala711Gly) rs758510906
NM_005592.4(MUSK):c.2155C>T (p.Arg719Cys) rs769211968
NM_005592.4(MUSK):c.218C>T (p.Thr73Ile) rs750101214
NM_005592.4(MUSK):c.2208C>G (p.Asn736Lys) rs770373727
NM_005592.4(MUSK):c.2213T>C (p.Val738Ala)
NM_005592.4(MUSK):c.2249T>A (p.Ile750Asn) rs781506865
NM_005592.4(MUSK):c.2260G>A (p.Asp754Asn) rs2078078707
NM_005592.4(MUSK):c.2262C>G (p.Asp754Glu)
NM_005592.4(MUSK):c.2263_2268del (p.Tyr755_Tyr756del) rs1588054209
NM_005592.4(MUSK):c.2291T>C (p.Ile764Thr) rs1554757211
NM_005592.4(MUSK):c.2314G>A (p.Glu772Lys) rs2132067786
NM_005592.4(MUSK):c.2350G>A (p.Asp784Asn) rs2132067949
NM_005592.4(MUSK):c.2352T>A (p.Asp784Glu)
NM_005592.4(MUSK):c.2411A>G (p.Tyr804Cys) rs533353279
NM_005592.4(MUSK):c.2423A>G (p.His808Arg) rs2078084308
NM_005592.4(MUSK):c.243G>T (p.Gly81=) rs1587897093
NM_005592.4(MUSK):c.2440T>G (p.Tyr814Asp) rs2078084758
NM_005592.4(MUSK):c.2443G>A (p.Val815Met) rs551520537
NM_005592.4(MUSK):c.2447G>T (p.Arg816Leu)
NM_005592.4(MUSK):c.2485G>A (p.Val829Met) rs578430
NM_005592.4(MUSK):c.2501T>C (p.Leu834Pro) rs2078086619
NM_005592.4(MUSK):c.2517G>C (p.Trp839Cys) rs1011593420
NM_005592.4(MUSK):c.253A>G (p.Thr85Ala) rs2131669584
NM_005592.4(MUSK):c.259C>G (p.Leu87Val) rs1198739112
NM_005592.4(MUSK):c.263G>A (p.Ser88Asn)
NM_005592.4(MUSK):c.348A>C (p.Gln116His) rs2131670048
NM_005592.4(MUSK):c.360A>C (p.Lys120Asn) rs1318631379
NM_005592.4(MUSK):c.361C>A (p.Pro121Thr) rs760483928
NM_005592.4(MUSK):c.361C>T (p.Pro121Ser)
NM_005592.4(MUSK):c.374G>A (p.Arg125His) rs375737188
NM_005592.4(MUSK):c.374G>T (p.Arg125Leu) rs375737188
NM_005592.4(MUSK):c.402_403delinsAA (p.Gly135Arg) rs2076418979
NM_005592.4(MUSK):c.433A>G (p.Met145Val) rs748144400
NM_005592.4(MUSK):c.474_475delinsAC (p.Asp158_Ser159delinsGluArg) rs1587917824
NM_005592.4(MUSK):c.479C>T (p.Pro160Leu) rs1308383168
NM_005592.4(MUSK):c.494C>T (p.Ser165Phe) rs1349731741
NM_005592.4(MUSK):c.503C>T (p.Ala168Val)
NM_005592.4(MUSK):c.509T>A (p.Leu170His) rs1464415453
NM_005592.4(MUSK):c.535A>T (p.Asn179Tyr) rs1554738557
NM_005592.4(MUSK):c.546G>C (p.Lys182Asn) rs1207568075
NM_005592.4(MUSK):c.568T>C (p.Cys190Arg)
NM_005592.4(MUSK):c.589G>A (p.Gly197Arg) rs768273510
NM_005592.4(MUSK):c.601T>G (p.Ser201Ala)
NM_005592.4(MUSK):c.617T>A (p.Leu206Gln)
NM_005592.4(MUSK):c.647G>T (p.Arg216Leu) rs188464904
NM_005592.4(MUSK):c.665A>T (p.Asn222Ile) rs55826142
NM_005592.4(MUSK):c.674T>A (p.Phe225Tyr)
NM_005592.4(MUSK):c.703G>A (p.Ala235Thr)
NM_005592.4(MUSK):c.721C>T (p.Pro241Ser) rs1564253296
NM_005592.4(MUSK):c.741A>C (p.Glu247Asp) rs2077002366
NM_005592.4(MUSK):c.753+5G>A rs2077002564
NM_005592.4(MUSK):c.757TCT[3] (p.Ser254dup) rs1287375718
NM_005592.4(MUSK):c.762T>A (p.Ser254=) rs2077190189
NM_005592.4(MUSK):c.778A>T (p.Ser260Cys)
NM_005592.4(MUSK):c.7G>A (p.Glu3Lys)
NM_005592.4(MUSK):c.83C>T (p.Pro28Leu)
NM_005592.4(MUSK):c.848T>C (p.Ile283Thr) rs2077193041
NM_005592.4(MUSK):c.899C>A (p.Thr300Asn) rs1554749322
NM_005592.4(MUSK):c.899C>T (p.Thr300Ile) rs1554749322
NM_005592.4(MUSK):c.916T>G (p.Trp306Gly) rs1319203200
NM_005592.4(MUSK):c.920+5G>C
NM_005592.4(MUSK):c.935A>T (p.Asp312Val) rs1362784498
NM_005592.4(MUSK):c.944_946delinsATA (p.Gly315_Tyr316delinsAspAsn) rs2131955443
NM_005592.4(MUSK):c.946T>C (p.Tyr316His) rs757775674
NM_005592.4(MUSK):c.952G>A (p.Ala318Thr)
NM_005592.4(MUSK):c.964G>A (p.Gly322Arg) rs1449532775
NM_005592.4(MUSK):c.965G>C (p.Gly322Ala) rs2131955587
NM_005677.4(COLQ):c.1016T>C (p.Phe339Ser) rs2062027386
NM_005677.4(COLQ):c.1021A>G (p.Arg341Gly) rs2062027221
NM_005677.4(COLQ):c.1031G>A (p.Arg344Lys) rs149532541
NM_005677.4(COLQ):c.103G>A (p.Ala35Thr) rs2125197454
NM_005677.4(COLQ):c.106+5A>G rs755773953
NM_005677.4(COLQ):c.107-2dup rs2062631055
NM_005677.4(COLQ):c.1085T>C (p.Phe362Ser) rs754357969
NM_005677.4(COLQ):c.1090C>G (p.Pro364Ala) rs1357228486
NM_005677.4(COLQ):c.1102A>G (p.Thr368Ala) rs2062019023
NM_005677.4(COLQ):c.1106C>T (p.Ala369Val) rs970111842
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.116G>T (p.Ser39Ile) rs1289941307
NM_005677.4(COLQ):c.1172_1173delinsAG (p.Ser391Lys) rs2125085391
NM_005677.4(COLQ):c.1186G>A (p.Asp396Asn) rs748582765
NM_005677.4(COLQ):c.1195C>G (p.Arg399Gly) rs779594053
NM_005677.4(COLQ):c.120G>A (p.Leu40=)
NM_005677.4(COLQ):c.1214G>C (p.Cys405Ser)
NM_005677.4(COLQ):c.1232A>G (p.His411Arg)
NM_005677.4(COLQ):c.1313T>C (p.Leu438Pro)
NM_005677.4(COLQ):c.1318T>C (p.Cys440Arg)
NM_005677.4(COLQ):c.1324_1326del (p.Gln442del) rs2125077483
NM_005677.4(COLQ):c.1338C>G (p.Ile446Met) rs73818504
NM_005677.4(COLQ):c.1345A>G (p.Thr449Ala)
NM_005677.4(COLQ):c.1348C>T (p.Pro450Ser) rs2061943968
NM_005677.4(COLQ):c.134G>A (p.Arg45His) rs761717418
NM_005677.4(COLQ):c.134G>C (p.Arg45Pro) rs761717418
NM_005677.4(COLQ):c.1352G>A (p.Cys451Tyr) rs1455550822
NM_005677.4(COLQ):c.1366T>C (p.Ter456Arg) rs188841362
NM_005677.4(COLQ):c.140G>T (p.Gly47Val) rs1411203931
NM_005677.4(COLQ):c.151T>C (p.Cys51Arg) rs1575483857
NM_005677.4(COLQ):c.154T>C (p.Cys52Arg) rs2062629371
NM_005677.4(COLQ):c.163A>G (p.Thr55Ala)
NM_005677.4(COLQ):c.168TCC[1] (p.Pro60del) rs753308023
NM_005677.4(COLQ):c.169C>T (p.Pro57Ser) rs2125139116
NM_005677.4(COLQ):c.191C>T (p.Pro64Leu) rs188737921
NM_005677.4(COLQ):c.209G>T (p.Gly70Val)
NM_005677.4(COLQ):c.235A>G (p.Met79Val)
NM_005677.4(COLQ):c.247A>T (p.Met83Leu) rs1575482990
NM_005677.4(COLQ):c.252G>A (p.Leu84=) rs2062609459
NM_005677.4(COLQ):c.275C>T (p.Pro92Leu) rs757464366
NM_005677.4(COLQ):c.305G>A (p.Gly102Glu) rs2062606840
NM_005677.4(COLQ):c.311C>A (p.Pro104His)
NM_005677.4(COLQ):c.323G>A (p.Gly108Asp)
NM_005677.4(COLQ):c.379C>G (p.Arg127Gly) rs143766249
NM_005677.4(COLQ):c.37C>G (p.Leu13Val) rs770933718
NM_005677.4(COLQ):c.382C>G (p.Pro128Ala)
NM_005677.4(COLQ):c.389G>A (p.Arg130Lys) rs750806839
NM_005677.4(COLQ):c.395G>T (p.Gly132Val) rs1272787369
NM_005677.4(COLQ):c.404G>C (p.Gly135Ala) rs1443896327
NM_005677.4(COLQ):c.424A>G (p.Met142Val) rs2125119662
NM_005677.4(COLQ):c.478G>A (p.Asp160Asn)
NM_005677.4(COLQ):c.502G>T (p.Gly168Trp)
NM_005677.4(COLQ):c.518T>C (p.Met173Thr)
NM_005677.4(COLQ):c.524C>T (p.Ser175Phe) rs1310878358
NM_005677.4(COLQ):c.555+5G>A rs765867687
NM_005677.4(COLQ):c.579C>G (p.Asp193Glu) rs2062339652
NM_005677.4(COLQ):c.58A>G (p.Ile20Val) rs909968550
NM_005677.4(COLQ):c.619G>A (p.Gly207Arg)
NM_005677.4(COLQ):c.636+5_636+8del rs1471567316
NM_005677.4(COLQ):c.655G>A (p.Gly219Ser) rs2125109848
NM_005677.4(COLQ):c.661C>T (p.Pro221Ser) rs2062265717
NM_005677.4(COLQ):c.664G>C (p.Gly222Arg) rs1472096340
NM_005677.4(COLQ):c.674G>A (p.Gly225Glu) rs780362486
NM_005677.4(COLQ):c.686C>A (p.Pro229His) rs2062264716
NM_005677.4(COLQ):c.688A>G (p.Thr230Ala)
NM_005677.4(COLQ):c.701G>A (p.Gly234Glu)
NM_005677.4(COLQ):c.70C>A (p.Pro24Thr)
NM_005677.4(COLQ):c.717+4A>C rs201550931
NM_005677.4(COLQ):c.77T>C (p.Phe26Ser) rs2063138065
NM_005677.4(COLQ):c.823A>G (p.Ile275Val)
NM_005677.4(COLQ):c.833C>G (p.Pro278Arg) rs1341977323
NM_005677.4(COLQ):c.856G>A (p.Gly286Arg)
NM_005677.4(COLQ):c.859C>T (p.Pro287Ser) rs2125089134
NM_005677.4(COLQ):c.871T>G (p.Cys291Gly)
NM_005677.4(COLQ):c.874C>T (p.Leu292Phe) rs2062053361
NM_005677.4(COLQ):c.889A>G (p.Met297Val)
NM_005677.4(COLQ):c.903C>A (p.Asn301Lys) rs1055184620
NM_005677.4(COLQ):c.905C>T (p.Pro302Leu)
NM_005677.4(COLQ):c.970A>C (p.Asn324His) rs201036462
NM_005677.4(COLQ):c.987G>C (p.Glu329Asp) rs758991725
NM_020549.5(CHAT):c.1009G>C (p.Val337Leu) rs1462079971
NM_020549.5(CHAT):c.1026C>A (p.Asn342Lys)
NM_020549.5(CHAT):c.1048A>C (p.Ile350Leu) rs1411738057
NM_020549.5(CHAT):c.1069G>T (p.Gly357Trp) rs61731735
NM_020549.5(CHAT):c.1078G>A (p.Glu360Lys)
NM_020549.5(CHAT):c.1097C>A (p.Thr366Lys) rs533289708
NM_020549.5(CHAT):c.1097C>T (p.Thr366Met) rs533289708
NM_020549.5(CHAT):c.1148G>C (p.Arg383Pro) rs779919147
NM_020549.5(CHAT):c.1155C>G (p.Ile385Met) rs1209379806
NM_020549.5(CHAT):c.1162G>C (p.Val388Leu) rs747366078
NM_020549.5(CHAT):c.1177C>T (p.Pro393Ser)
NM_020549.5(CHAT):c.1198G>C (p.Asp400His) rs8178991
NM_020549.5(CHAT):c.122G>A (p.Gly41Asp) rs1441347177
NM_020549.5(CHAT):c.122G>C (p.Gly41Ala) rs1441347177
NM_020549.5(CHAT):c.1281+6C>T rs745923819
NM_020549.5(CHAT):c.1286T>C (p.Val429Ala) rs1839755600
NM_020549.5(CHAT):c.1289T>C (p.Val430Ala)
NM_020549.5(CHAT):c.1291G>T (p.Gly431Cys) rs1554807467
NM_020549.5(CHAT):c.1295G>A (p.Arg432Gln)
NM_020549.5(CHAT):c.1309G>A (p.Gly437Ser) rs562560467
NM_020549.5(CHAT):c.1313T>C (p.Val438Ala)
NM_020549.5(CHAT):c.1360A>T (p.Thr454Ser) rs745938985
NM_020549.5(CHAT):c.1381G>T (p.Val461Leu) rs4838544
NM_020549.5(CHAT):c.1381_1382inv (p.Val461Thr)
NM_020549.5(CHAT):c.1383G>A (p.Val461=)
NM_020549.5(CHAT):c.1408C>G (p.Arg470Gly)
NM_020549.5(CHAT):c.1409G>C (p.Arg470Pro) rs774834313
NM_020549.5(CHAT):c.1414G>A (p.Asp472Asn) rs2132811983
NM_020549.5(CHAT):c.1420G>C (p.Val474Leu) rs371719364
NM_020549.5(CHAT):c.1425C>A (p.Ser475Arg) rs553771451
NM_020549.5(CHAT):c.1435G>A (p.Ala479Thr)
NM_020549.5(CHAT):c.1435G>C (p.Ala479Pro) rs3793795
NM_020549.5(CHAT):c.1436C>T (p.Ala479Val) rs1319866298
NM_020549.5(CHAT):c.1439C>G (p.Pro480Arg) rs1839799283
NM_020549.5(CHAT):c.1441C>T (p.Arg481Trp) rs751583653
NM_020549.5(CHAT):c.1450C>T (p.Arg484Trp) rs778801148
NM_020549.5(CHAT):c.1459T>A (p.Cys487Ser)
NM_020549.5(CHAT):c.146dup (p.Gly50fs) rs1838395196
NM_020549.5(CHAT):c.1478G>T (p.Gly493Val) rs1180007688
NM_020549.5(CHAT):c.1481A>C (p.His494Pro) rs1247659665
NM_020549.5(CHAT):c.1490C>A (p.Ser497Tyr) rs141878259
NM_020549.5(CHAT):c.1541A>G (p.Tyr514Cys)
NM_020549.5(CHAT):c.1544A>T (p.Lys515Met)
NM_020549.5(CHAT):c.157G>C (p.Gly53Arg) rs968331105
NM_020549.5(CHAT):c.1597G>A (p.Ala533Thr)
NM_020549.5(CHAT):c.1613C>T (p.Ala538Val) rs1839894638
NM_020549.5(CHAT):c.1651G>C (p.Val551Leu) rs1564493573
NM_020549.5(CHAT):c.1652T>G (p.Val551Gly) rs1554808432
NM_020549.5(CHAT):c.166G>C (p.Gly56Arg)
NM_020549.5(CHAT):c.1697G>A (p.Arg566His) rs1411285839
NM_020549.5(CHAT):c.1699G>A (p.Val567Met)
NM_020549.5(CHAT):c.1700T>C (p.Val567Ala) rs1839994676
NM_020549.5(CHAT):c.1703ACA[1] (p.Asn569del)
NM_020549.5(CHAT):c.1718C>T (p.Ala573Val) rs1839995687
NM_020549.5(CHAT):c.1727A>T (p.Glu576Val)
NM_020549.5(CHAT):c.1777G>A (p.Ala593Thr)
NM_020549.5(CHAT):c.1795C>T (p.Leu599Phe)
NM_020549.5(CHAT):c.181C>A (p.Pro61Thr) rs923971969
NM_020549.5(CHAT):c.1822A>T (p.Thr608Ser)
NM_020549.5(CHAT):c.1834G>C (p.Val612Leu)
NM_020549.5(CHAT):c.1835T>C (p.Val612Ala) rs1840006246
NM_020549.5(CHAT):c.1838T>C (p.Met613Thr) rs1840006355
NM_020549.5(CHAT):c.1839+3G>A rs1840006511
NM_020549.5(CHAT):c.1843A>G (p.Ile615Val) rs759151717
NM_020549.5(CHAT):c.1858A>C (p.Ile620Leu)
NM_020549.5(CHAT):c.1859T>G (p.Ile620Ser) rs2132852411
NM_020549.5(CHAT):c.1863C>A (p.Asp621Glu)
NM_020549.5(CHAT):c.1882C>T (p.Arg628Trp) rs116097791
NM_020549.5(CHAT):c.1888C>G (p.Leu630Val)
NM_020549.5(CHAT):c.188C>T (p.Ala63Val)
NM_020549.5(CHAT):c.1892C>T (p.Ala631Val) rs765840442
NM_020549.5(CHAT):c.1918G>A (p.Glu640Lys) rs774403163
NM_020549.5(CHAT):c.1935A>C (p.Glu645Asp) rs775011277
NM_020549.5(CHAT):c.1943T>C (p.Leu648Pro) rs1242281029
NM_020549.5(CHAT):c.1946T>G (p.Met649Arg)
NM_020549.5(CHAT):c.1963C>T (p.Leu655Phe) rs1394460049
NM_020549.5(CHAT):c.196C>A (p.Arg66Ser)
NM_020549.5(CHAT):c.1978-20T>C
NM_020549.5(CHAT):c.1995G>T (p.Glu665Asp)
NM_020549.5(CHAT):c.1997T>C (p.Met666Thr) rs1485449042
NM_020549.5(CHAT):c.2039C>T (p.Ala680Val)
NM_020549.5(CHAT):c.2059G>C (p.Glu687Gln)
NM_020549.5(CHAT):c.206C>A (p.Pro69His) rs1283840204
NM_020549.5(CHAT):c.208del (p.Leu70fs) rs1838400244
NM_020549.5(CHAT):c.2107TCT[1] (p.Ser705del) rs750942168
NM_020549.5(CHAT):c.2108C>T (p.Ser703Phe) rs1316112613
NM_020549.5(CHAT):c.2117A>G (p.Lys706Arg) rs1286894680
NM_020549.5(CHAT):c.212C>A (p.Pro71Gln) rs1180855605
NM_020549.5(CHAT):c.2180C>A (p.Pro727His) rs1554809701
NM_020549.5(CHAT):c.2190C>A (p.Ser730Arg) rs1840309085
NM_020549.5(CHAT):c.220A>G (p.Thr74Ala) rs1554801418
NM_020549.5(CHAT):c.2219C>A (p.Thr740Lys)
NM_020549.5(CHAT):c.2228G>T (p.Ser743Ile) rs1840310830
NM_020549.5(CHAT):c.2238C>A (p.His746Gln) rs1234288422
NM_020549.5(CHAT):c.224C>T (p.Pro75Leu)
NM_020549.5(CHAT):c.232A>C (p.Thr78Pro) rs1217500618
NM_020549.5(CHAT):c.238G>C (p.Glu80Gln) rs756348058
NM_020549.5(CHAT):c.246C>A (p.Cys82Ter) rs1409154681
NM_020549.5(CHAT):c.24G>T (p.Lys8Asn) rs1444707075
NM_020549.5(CHAT):c.250G>T (p.Ala84Ser) rs1338798480
NM_020549.5(CHAT):c.254C>G (p.Ala85Gly) rs1564469074
NM_020549.5(CHAT):c.275C>A (p.Pro92Gln) rs372298555
NM_020549.5(CHAT):c.280A>G (p.Arg94Gly) rs1838405822
NM_020549.5(CHAT):c.287G>T (p.Gly96Val) rs1349499470
NM_020549.5(CHAT):c.311C>T (p.Pro104Leu) rs2132701987
NM_020549.5(CHAT):c.35G>A (p.Gly12Glu) rs770749789
NM_020549.5(CHAT):c.387T>A (p.Ser129=) rs143723043
NM_020549.5(CHAT):c.413C>A (p.Pro138Gln) rs557059182
NM_020549.5(CHAT):c.419A>C (p.Gln140Pro)
NM_020549.5(CHAT):c.43G>A (p.Gly15Arg) rs1838388018
NM_020549.5(CHAT):c.45del (p.Lys16fs) rs1838387913
NM_020549.5(CHAT):c.463T>C (p.Ser155Pro) rs1838634644
NM_020549.5(CHAT):c.484A>G (p.Ser162Gly) rs1195682323
NM_020549.5(CHAT):c.486C>A (p.Ser162Arg) rs2132710676
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser) rs776499844
NM_020549.5(CHAT):c.511_512delinsAA (p.Ala171Asn) rs1838636916
NM_020549.5(CHAT):c.512C>T (p.Ala171Val)
NM_020549.5(CHAT):c.520G>A (p.Gly174Ser)
NM_020549.5(CHAT):c.547C>A (p.Leu183Ile)
NM_020549.5(CHAT):c.547C>T (p.Leu183Phe) rs746030420
NM_020549.5(CHAT):c.548T>C (p.Leu183Pro)
NM_020549.5(CHAT):c.557G>A (p.Arg186Gln) rs747996335
NM_020549.5(CHAT):c.557G>C (p.Arg186Pro) rs747996335
NM_020549.5(CHAT):c.55A>G (p.Arg19Gly)
NM_020549.5(CHAT):c.614A>G (p.Asn205Ser) rs2132712941
NM_020549.5(CHAT):c.640T>G (p.Ser214Ala) rs1378520155
NM_020549.5(CHAT):c.662C>T (p.Ala221Val)
NM_020549.5(CHAT):c.693G>C (p.Gln231His) rs1838671242
NM_020549.5(CHAT):c.712C>G (p.Leu238Val)
NM_020549.5(CHAT):c.715A>G (p.Ile239Val)
NM_020549.5(CHAT):c.764C>T (p.Pro255Leu) rs2132727930
NM_020549.5(CHAT):c.767C>T (p.Thr256Ile) rs754977595
NM_020549.5(CHAT):c.769G>A (p.Asp257Asn) rs1564475567
NM_020549.5(CHAT):c.780A>T (p.Lys260Asn) rs2132727991
NM_020549.5(CHAT):c.781G>A (p.Gly261Ser) rs1838884383
NM_020549.5(CHAT):c.782G>A (p.Gly261Asp) rs2132728015
NM_020549.5(CHAT):c.800C>T (p.Pro267Leu) rs749662741
NM_020549.5(CHAT):c.806G>T (p.Cys269Phe)
NM_020549.5(CHAT):c.818A>G (p.Tyr273Cys)
NM_020549.5(CHAT):c.82A>G (p.Arg28Gly)
NM_020549.5(CHAT):c.844C>T (p.Leu282Phe)
NM_020549.5(CHAT):c.847C>G (p.Pro283Ala)
NM_020549.5(CHAT):c.850G>A (p.Gly284Ser)
NM_020549.5(CHAT):c.857C>G (p.Thr286Ser) rs1231575273
NM_020549.5(CHAT):c.869T>C (p.Leu290Pro)
NM_020549.5(CHAT):c.86G>A (p.Arg29Lys) rs1838390973
NM_020549.5(CHAT):c.883A>G (p.Ser295Gly) rs1473934667
NM_020549.5(CHAT):c.895C>T (p.Pro299Ser)
NM_020549.5(CHAT):c.916G>C (p.Val306Leu) rs551219437
NM_020549.5(CHAT):c.920C>G (p.Ala307Gly) rs748250869
NM_020549.5(CHAT):c.92T>A (p.Val31Glu) rs1016283273
NM_020549.5(CHAT):c.967C>T (p.Arg323Cys) rs771938918
NM_020549.5(CHAT):c.973A>G (p.Ser325Gly) rs1838968738
NM_020549.5(CHAT):c.976G>A (p.Glu326Lys) rs906778274
NM_021815.5(SLC5A7):c.1012G>T (p.Gly338Cys) rs2104379258
NM_021815.5(SLC5A7):c.1027G>A (p.Ala343Thr) rs140481686
NM_021815.5(SLC5A7):c.1046A>G (p.Asp349Gly) rs2104379374
NM_021815.5(SLC5A7):c.1072A>T (p.Met358Leu) rs762453964
NM_021815.5(SLC5A7):c.1096C>A (p.Leu366Ile) rs2104379560
NM_021815.5(SLC5A7):c.10C>G (p.His4Asp) rs1206415590
NM_021815.5(SLC5A7):c.1114-10T>C
NM_021815.5(SLC5A7):c.1115C>A (p.Ala372Asp)
NM_021815.5(SLC5A7):c.112C>T (p.Arg38Cys) rs935822553
NM_021815.5(SLC5A7):c.1132G>T (p.Val378Phe)
NM_021815.5(SLC5A7):c.1137G>T (p.Trp379Cys)
NM_021815.5(SLC5A7):c.1138G>A (p.Val380Ile) rs2104382635
NM_021815.5(SLC5A7):c.113G>A (p.Arg38His) rs1054170676
NM_021815.5(SLC5A7):c.113G>T (p.Arg38Leu)
NM_021815.5(SLC5A7):c.1153G>T (p.Val385Leu) rs1678267305
NM_021815.5(SLC5A7):c.117C>A (p.Ser39Arg)
NM_021815.5(SLC5A7):c.1184T>C (p.Met395Thr) rs556748289
NM_021815.5(SLC5A7):c.1196C>T (p.Thr399Met)
NM_021815.5(SLC5A7):c.1202C>G (p.Thr401Ser) rs1558872383
NM_021815.5(SLC5A7):c.1204G>A (p.Val402Met)
NM_021815.5(SLC5A7):c.121G>A (p.Ala41Thr) rs1677323077
NM_021815.5(SLC5A7):c.1220A>G (p.Tyr407Cys)
NM_021815.5(SLC5A7):c.1262T>C (p.Leu421Pro) rs2104383027
NM_021815.5(SLC5A7):c.1274T>C (p.Leu425Pro) rs2104383051
NM_021815.5(SLC5A7):c.1286G>A (p.Gly429Glu)
NM_021815.5(SLC5A7):c.1293C>G (p.Asn431Lys) rs2104383095
NM_021815.5(SLC5A7):c.1300G>A (p.Gly434Arg) rs2104383123
NM_021815.5(SLC5A7):c.1306G>T (p.Val436Leu) rs148535388
NM_021815.5(SLC5A7):c.1316A>T (p.Tyr439Phe) rs2104383202
NM_021815.5(SLC5A7):c.1319T>C (p.Val440Ala) rs1446985615
NM_021815.5(SLC5A7):c.1357T>C (p.Tyr453His) rs1678278823
NM_021815.5(SLC5A7):c.1376T>C (p.Leu459Ser) rs145310206
NM_021815.5(SLC5A7):c.137G>T (p.Gly46Val)
NM_021815.5(SLC5A7):c.1387C>T (p.Pro463Ser) rs1558872670
NM_021815.5(SLC5A7):c.1399C>A (p.Pro467Thr)
NM_021815.5(SLC5A7):c.1405G>A (p.Asp469Asn) rs1678280904
NM_021815.5(SLC5A7):c.1409A>G (p.Asn470Ser) rs1678281220
NM_021815.5(SLC5A7):c.1412G>A (p.Gly471Asp)
NM_021815.5(SLC5A7):c.1415T>G (p.Ile472Arg)
NM_021815.5(SLC5A7):c.1418A>G (p.Tyr473Cys) rs1323329132
NM_021815.5(SLC5A7):c.1425G>T (p.Gln475His)
NM_021815.5(SLC5A7):c.142G>A (p.Asp48Asn)
NM_021815.5(SLC5A7):c.1436T>G (p.Phe479Cys) rs1274120636
NM_021815.5(SLC5A7):c.145A>T (p.Ile49Phe)
NM_021815.5(SLC5A7):c.1462T>C (p.Phe488Leu)
NM_021815.5(SLC5A7):c.1469C>T (p.Thr490Ile)
NM_021815.5(SLC5A7):c.146T>C (p.Ile49Thr)
NM_021815.5(SLC5A7):c.1476_1481dup (p.Ile494_Ser495insCysIle)
NM_021815.5(SLC5A7):c.1480A>G (p.Ile494Val)
NM_021815.5(SLC5A7):c.1482C>G (p.Ile494Met)
NM_021815.5(SLC5A7):c.148G>T (p.Gly50Cys)
NM_021815.5(SLC5A7):c.1493C>G (p.Ala498Gly)
NM_021815.5(SLC5A7):c.1498T>C (p.Tyr500His)
NM_021815.5(SLC5A7):c.1500T>A (p.Tyr500Ter)
NM_021815.5(SLC5A7):c.1526C>A (p.Pro509His)
NM_021815.5(SLC5A7):c.1526C>G (p.Pro509Arg)
NM_021815.5(SLC5A7):c.1529A>T (p.Lys510Ile) rs199693962
NM_021815.5(SLC5A7):c.1543G>C (p.Asp515His)
NM_021815.5(SLC5A7):c.1550T>C (p.Val517Ala)
NM_021815.5(SLC5A7):c.1553T>C (p.Val518Ala) rs1558872967
NM_021815.5(SLC5A7):c.1556C>G (p.Ala519Gly) rs776499560
NM_021815.5(SLC5A7):c.1566T>G (p.Ser522Arg)
NM_021815.5(SLC5A7):c.1576A>G (p.Met526Val)
NM_021815.5(SLC5A7):c.1581T>A (p.Asp527Glu)
NM_021815.5(SLC5A7):c.1581dup (p.Lys528Ter) rs1678292762
NM_021815.5(SLC5A7):c.1601A>G (p.Asn534Ser) rs1678293099
NM_021815.5(SLC5A7):c.1607A>G (p.Asn536Ser)
NM_021815.5(SLC5A7):c.1610T>C (p.Ile537Thr) rs1157492588
NM_021815.5(SLC5A7):c.1637A>G (p.Lys546Arg)
NM_021815.5(SLC5A7):c.1649G>A (p.Ser550Asn)
NM_021815.5(SLC5A7):c.1670T>C (p.Phe557Ser) rs1558873189
NM_021815.5(SLC5A7):c.1672A>T (p.Thr558Ser)
NM_021815.5(SLC5A7):c.1673C>G (p.Thr558Ser) rs747026995
NM_021815.5(SLC5A7):c.1676A>G (p.Asn559Ser)
NM_021815.5(SLC5A7):c.1685C>A (p.Ala562Asp)
NM_021815.5(SLC5A7):c.1685C>G (p.Ala562Gly) rs776388070
NM_021815.5(SLC5A7):c.1690C>G (p.Leu564Val) rs1553460067
NM_021815.5(SLC5A7):c.1697T>C (p.Val566Ala) rs202227094
NM_021815.5(SLC5A7):c.1699G>T (p.Asp567Tyr) rs1573619033
NM_021815.5(SLC5A7):c.1703C>G (p.Ser568Cys)
NM_021815.5(SLC5A7):c.1708_*45delinsATCAACCAGAACC (p.Pro570fs)
NM_021815.5(SLC5A7):c.1721G>T (p.Gly574Val) rs1222691698
NM_021815.5(SLC5A7):c.1726G>A (p.Glu576Lys) rs763725923
NM_021815.5(SLC5A7):c.175A>T (p.Thr59Ser)
NM_021815.5(SLC5A7):c.177A>G (p.Thr59=) rs1553457528
NM_021815.5(SLC5A7):c.178+4C>G
NM_021815.5(SLC5A7):c.178+6T>C rs1553457530
NM_021815.5(SLC5A7):c.179-2A>G rs2104340311
NM_021815.5(SLC5A7):c.194G>A (p.Gly65Glu) rs886039765
NM_021815.5(SLC5A7):c.19G>C (p.Gly7Arg) rs753442687
NM_021815.5(SLC5A7):c.229G>A (p.Val77Ile)
NM_021815.5(SLC5A7):c.230T>A (p.Val77Glu) rs1573592052
NM_021815.5(SLC5A7):c.236G>T (p.Gly79Val) rs1177599655
NM_021815.5(SLC5A7):c.260C>T (p.Ala87Val) rs1558859918
NM_021815.5(SLC5A7):c.266T>C (p.Ile89Thr)
NM_021815.5(SLC5A7):c.26T>C (p.Ile9Thr) rs543338077
NM_021815.5(SLC5A7):c.275C>T (p.Ser92Phe) rs60964124
NM_021815.5(SLC5A7):c.277C>A (p.Leu93Ile) rs1172822464
NM_021815.5(SLC5A7):c.278T>G (p.Leu93Arg)
NM_021815.5(SLC5A7):c.292+1G>A rs1677478183
NM_021815.5(SLC5A7):c.292+5G>C
NM_021815.5(SLC5A7):c.313C>T (p.Pro105Ser) rs886039766
NM_021815.5(SLC5A7):c.320G>A (p.Arg107His)
NM_021815.5(SLC5A7):c.364dup (p.Tyr122fs) rs2104342591
NM_021815.5(SLC5A7):c.376A>G (p.Met126Val) rs371931981
NM_021815.5(SLC5A7):c.377T>C (p.Met126Thr)
NM_021815.5(SLC5A7):c.378G>A (p.Met126Ile) rs1336840043
NM_021815.5(SLC5A7):c.37G>A (p.Val13Met) rs1677319788
NM_021815.5(SLC5A7):c.401C>T (p.Ala134Val)
NM_021815.5(SLC5A7):c.406A>G (p.Met136Val)
NM_021815.5(SLC5A7):c.419T>G (p.Phe140Cys) rs1558860651
NM_021815.5(SLC5A7):c.427G>A (p.Ala143Thr) rs1558860658
NM_021815.5(SLC5A7):c.428C>A (p.Ala143Glu) rs1677517934
NM_021815.5(SLC5A7):c.42C>A (p.Phe14Leu) rs1558857378
NM_021815.5(SLC5A7):c.448+6G>A
NM_021815.5(SLC5A7):c.451G>A (p.Ala151Thr) rs1677727536
NM_021815.5(SLC5A7):c.463G>C (p.Val155Leu)
NM_021815.5(SLC5A7):c.466A>G (p.Ile156Val)
NM_021815.5(SLC5A7):c.46C>A (p.Leu16Ile)
NM_021815.5(SLC5A7):c.46C>G (p.Leu16Val) rs143876748
NM_021815.5(SLC5A7):c.472G>C (p.Asp158His)
NM_021815.5(SLC5A7):c.499A>T (p.Ile167Phe)
NM_021815.5(SLC5A7):c.502T>C (p.Ser168Pro)
NM_021815.5(SLC5A7):c.517A>T (p.Thr173Ser) rs2104354270
NM_021815.5(SLC5A7):c.518C>A (p.Thr173Asn) rs746514670
NM_021815.5(SLC5A7):c.518C>T (p.Thr173Ile) rs746514670
NM_021815.5(SLC5A7):c.529C>A (p.Leu177Met) rs2104354340
NM_021815.5(SLC5A7):c.532G>A (p.Val178Met)
NM_021815.5(SLC5A7):c.568G>C (p.Val190Leu) rs541031936
NM_021815.5(SLC5A7):c.572A>G (p.Gln191Arg)
NM_021815.5(SLC5A7):c.577T>G (p.Phe193Val)
NM_021815.5(SLC5A7):c.583A>G (p.Ile195Val) rs776668635
NM_021815.5(SLC5A7):c.598-12T>C
NM_021815.5(SLC5A7):c.598T>C (p.Trp200Arg)
NM_021815.5(SLC5A7):c.603C>G (p.Ile201Met)
NM_021815.5(SLC5A7):c.607G>A (p.Val203Ile)
NM_021815.5(SLC5A7):c.607G>C (p.Val203Leu)
NM_021815.5(SLC5A7):c.625C>T (p.His209Tyr) rs763744412
NM_021815.5(SLC5A7):c.649T>A (p.Phe217Ile)
NM_021815.5(SLC5A7):c.656C>T (p.Ala219Val) rs2104364447
NM_021815.5(SLC5A7):c.663T>A (p.His221Gln) rs2104364491
NM_021815.5(SLC5A7):c.679C>T (p.Pro227Ser) rs1035258430
NM_021815.5(SLC5A7):c.682T>A (p.Trp228Arg) rs1677927136
NM_021815.5(SLC5A7):c.703T>G (p.Ser235Ala) rs1677928025
NM_021815.5(SLC5A7):c.729T>G (p.Ser243Arg)
NM_021815.5(SLC5A7):c.737T>C (p.Leu246Ser)
NM_021815.5(SLC5A7):c.742-3C>T rs995989817
NM_021815.5(SLC5A7):c.742A>T (p.Met248Leu)
NM_021815.5(SLC5A7):c.74C>T (p.Ala25Val) rs2104332660
NM_021815.5(SLC5A7):c.772T>C (p.Phe258Leu)
NM_021815.5(SLC5A7):c.779G>T (p.Arg260Met) rs1678107773
NM_021815.5(SLC5A7):c.788C>G (p.Ser263Cys) rs1259002559
NM_021815.5(SLC5A7):c.797C>T (p.Ser266Leu)
NM_021815.5(SLC5A7):c.800C>T (p.Ala267Val) rs761583647
NM_021815.5(SLC5A7):c.806A>G (p.Tyr269Cys)
NM_021815.5(SLC5A7):c.815T>C (p.Val272Ala) rs772699592
NM_021815.5(SLC5A7):c.81G>A (p.Trp27Ter) rs1677321281
NM_021815.5(SLC5A7):c.827T>C (p.Leu276Pro) rs2104373588
NM_021815.5(SLC5A7):c.862G>C (p.Ala288Pro)
NM_021815.5(SLC5A7):c.877G>A (p.Ala293Thr) rs2104373775
NM_021815.5(SLC5A7):c.878C>T (p.Ala293Val) rs1553459529
NM_021815.5(SLC5A7):c.880A>G (p.Ile294Val)
NM_021815.5(SLC5A7):c.895+1G>C rs1678115852
NM_021815.5(SLC5A7):c.895+4A>G
NM_021815.5(SLC5A7):c.8T>C (p.Phe3Ser)
NM_021815.5(SLC5A7):c.919C>T (p.Leu307Phe)
NM_021815.5(SLC5A7):c.931A>C (p.Lys311Gln) rs1307429820
NM_021815.5(SLC5A7):c.949G>T (p.Asp317Tyr) rs1678201892
NM_021815.5(SLC5A7):c.952A>G (p.Met318Val) rs1678202004
NM_021815.5(SLC5A7):c.95G>A (p.Ser32Asn)
NM_021815.5(SLC5A7):c.964A>G (p.Ile322Val)
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His) rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr) rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu) rs1588618702
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr) rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala) rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs) rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter) rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val) rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter) rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg) rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys) rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val) rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu) rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val) rs1588620643
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly) rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val) rs551744220
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg) rs745813432
NM_033087.4(ALG2):c.215G>T (p.Gly72Val) rs770738799
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr) rs375634924
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup) rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup) rs759891618
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn) rs769169852
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly) rs747781559
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu) rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg) rs2119007195
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met) rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs) rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr) rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp) rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala) rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile) rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter) rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met) rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg) rs749336918
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser) rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer) rs745635377
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile) rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu) rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met) rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val) rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His) rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys) rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.760T>G (p.Leu254Val) rs62562374
NM_033087.4(ALG2):c.795C>G (p.Ile265Met) rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.839A>G (p.His280Arg) rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys) rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys) rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met) rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
NM_130811.4(SNAP25):c.103C>A (p.Leu35Met)
NM_130811.4(SNAP25):c.114+3A>C
NM_130811.4(SNAP25):c.114G>C (p.Glu38Asp) rs763997141
NM_130811.4(SNAP25):c.11A>G (p.Asp4Gly) rs11547861
NM_130811.4(SNAP25):c.136A>C (p.Thr46Pro) rs2063842678
NM_130811.4(SNAP25):c.144_146dup (p.Val48_Met49insIle) rs2063842805
NM_130811.4(SNAP25):c.176G>A (p.Arg59His)
NM_130811.4(SNAP25):c.219A>G (p.Glu73=)
NM_130811.4(SNAP25):c.22C>A (p.Arg8Ser)
NM_130811.4(SNAP25):c.25A>C (p.Asn9His) rs2063677130
NM_130811.4(SNAP25):c.281A>G (p.Lys94Arg) rs2123120986
NM_130811.4(SNAP25):c.34GAG[1] (p.Glu13del)
NM_130811.4(SNAP25):c.363G>A (p.Val121=)
NM_130811.4(SNAP25):c.371G>A (p.Arg124Gln)
NM_130811.4(SNAP25):c.377A>G (p.Gln126Arg) rs2064127610
NM_130811.4(SNAP25):c.403C>T (p.Arg135Cys)
NM_130811.4(SNAP25):c.407+3G>A rs1871070779
NM_130811.4(SNAP25):c.425G>A (p.Arg142Gln) rs2064181232
NM_130811.4(SNAP25):c.437T>A (p.Met146Lys)
NM_130811.4(SNAP25):c.469A>G (p.Ile157Val)
NM_130811.4(SNAP25):c.47G>A (p.Arg16Gln) rs760339630
NM_130811.4(SNAP25):c.487A>G (p.Met163Val) rs2123159174
NM_130811.4(SNAP25):c.488T>G (p.Met163Arg)
NM_130811.4(SNAP25):c.491C>A (p.Ala164Asp)
NM_130811.4(SNAP25):c.4G>A (p.Ala2Thr) rs769950821
NM_130811.4(SNAP25):c.503G>A (p.Gly168Asp) rs1600791112
NM_130811.4(SNAP25):c.503G>T (p.Gly168Val) rs1600791112
NM_130811.4(SNAP25):c.511A>G (p.Ile171Val)
NM_130811.4(SNAP25):c.552+6C>T rs2123159776
NM_130811.4(SNAP25):c.566A>C (p.Lys189Thr)
NM_130811.4(SNAP25):c.568A>G (p.Thr190Ala)
NM_130811.4(SNAP25):c.569C>T (p.Thr190Ile) rs2064354640
NM_130811.4(SNAP25):c.57C>A (p.Asp19Glu)
NM_130811.4(SNAP25):c.591A>C (p.Gln197His) rs2064355285
NM_130811.4(SNAP25):c.592C>T (p.Arg198Cys)
NM_130811.4(SNAP25):c.614G>A (p.Ser205Asn)
NM_130811.4(SNAP25):c.69T>G (p.Asp23Glu) rs1278243837
NM_130811.4(SNAP25):c.88C>T (p.Arg30Cys)
NM_144988.4(ALG14):c.113G>A (p.Ser38Asn) rs139521179
NM_144988.4(ALG14):c.127G>C (p.Ala43Pro)
NM_144988.4(ALG14):c.190T>C (p.Ser64Pro)
NM_144988.4(ALG14):c.199C>T (p.His67Tyr)
NM_144988.4(ALG14):c.203A>G (p.Tyr68Cys)
NM_144988.4(ALG14):c.20T>C (p.Leu7Pro)
NM_144988.4(ALG14):c.210T>G (p.Ile70Met)
NM_144988.4(ALG14):c.245A>G (p.Asn82Ser) rs1192311417
NM_144988.4(ALG14):c.24T>A (p.Ala8=)
NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)
NM_144988.4(ALG14):c.288+4A>G rs2100841130
NM_144988.4(ALG14):c.288G>T (p.Met96Ile)
NM_144988.4(ALG14):c.289-2A>G rs1673851343
NM_144988.4(ALG14):c.313A>G (p.Ile105Val)
NM_144988.4(ALG14):c.323G>A (p.Ser108Asn) rs1673848834
NM_144988.4(ALG14):c.337C>G (p.Gln113Glu) rs1204743597
NM_144988.4(ALG14):c.342_344del (p.Trp115del) rs1210554241
NM_144988.4(ALG14):c.401A>C (p.His134Pro)
NM_144988.4(ALG14):c.402C>A (p.His134Gln)
NM_144988.4(ALG14):c.420+1G>A
NM_144988.4(ALG14):c.420+5G>A rs1571621391
NM_144988.4(ALG14):c.420+6_420+9del rs1673843345
NM_144988.4(ALG14):c.451C>T (p.Pro151Ser) rs2100709244
NM_144988.4(ALG14):c.464C>T (p.Ser155Phe) rs2100709222
NM_144988.4(ALG14):c.478G>A (p.Gly160Arg)
NM_144988.4(ALG14):c.503T>G (p.Ile168Ser) rs1431105428
NM_144988.4(ALG14):c.517G>T (p.Glu173Ter)
NM_144988.4(ALG14):c.529C>A (p.Arg177Ser) rs1279524858
NM_144988.4(ALG14):c.533T>G (p.Val178Gly) rs766184799
NM_144988.4(ALG14):c.549G>C (p.Met183Ile)
NM_144988.4(ALG14):c.551C>G (p.Ser184Cys) rs2100709015
NM_144988.4(ALG14):c.599C>T (p.Pro200Leu) rs1014644772
NM_144988.4(ALG14):c.619C>T (p.Pro207Ser)
NM_144988.4(ALG14):c.626C>T (p.Ser209Leu)
NM_144988.4(ALG14):c.66A>G (p.Ile22Met) rs1309034063
NM_144988.4(ALG14):c.80G>T (p.Arg27Leu) rs1267285963
NM_144988.4(ALG14):c.82T>C (p.Ser28Pro)
NM_144988.4(ALG14):c.86T>C (p.Met29Thr) rs1156822888
NM_173660.5(DOK7):c.1001G>A (p.Ser334Asn) rs1467473001
NM_173660.5(DOK7):c.1009G>A (p.Asp337Asn) rs2109418165
NM_173660.5(DOK7):c.1016G>C (p.Gly339Ala) rs1728608485
NM_173660.5(DOK7):c.1018A>G (p.Ile340Val)
NM_173660.5(DOK7):c.1030A>G (p.Ser344Gly) rs2109418322
NM_173660.5(DOK7):c.1033C>T (p.His345Tyr)
NM_173660.5(DOK7):c.1034A>G (p.His345Arg) rs1577182623
NM_173660.5(DOK7):c.1037C>G (p.Ser346Cys) rs568530359
NM_173660.5(DOK7):c.1049G>A (p.Ser350Asn) rs1728615373
NM_173660.5(DOK7):c.1050C>G (p.Ser350Arg) rs2109418499
NM_173660.5(DOK7):c.1054C>G (p.Leu352Val) rs1037224921
NM_173660.5(DOK7):c.1066G>C (p.Ala356Pro)
NM_173660.5(DOK7):c.1067C>A (p.Ala356Glu) rs368512847
NM_173660.5(DOK7):c.1067C>T (p.Ala356Val) rs368512847
NM_173660.5(DOK7):c.1074_1306dup (p.Gly436fs) rs1560232833
NM_173660.5(DOK7):c.1083C>G (p.Asp361Glu)
NM_173660.5(DOK7):c.1088G>T (p.Trp363Leu) rs763666945
NM_173660.5(DOK7):c.1091G>T (p.Arg364Leu) rs201304841
NM_173660.5(DOK7):c.1109G>C (p.Gly370Ala) rs1728624628
NM_173660.5(DOK7):c.1139C>A (p.Ala380Asp) rs766061571
NM_173660.5(DOK7):c.1139C>G (p.Ala380Gly) rs766061571
NM_173660.5(DOK7):c.1139C>T (p.Ala380Val) rs766061571
NM_173660.5(DOK7):c.1145A>C (p.Glu382Ala) rs1728631866
NM_173660.5(DOK7):c.1145_1171del (p.Glu382_Pro390del)
NM_173660.5(DOK7):c.1151G>A (p.Ser384Asn) rs1728632467
NM_173660.5(DOK7):c.1154T>C (p.Leu385Pro) rs1728632885
NM_173660.5(DOK7):c.1168C>A (p.Pro390Thr) rs149525610
NM_173660.5(DOK7):c.1171G>T (p.Gly391Trp)
NM_173660.5(DOK7):c.1172G>A (p.Gly391Glu) rs753513427
NM_173660.5(DOK7):c.1205G>C (p.Arg402Pro) rs370039804
NM_173660.5(DOK7):c.1208C>G (p.Ala403Gly)
NM_173660.5(DOK7):c.1211A>G (p.His404Arg)
NM_173660.5(DOK7):c.1228A>C (p.Ser410Arg) rs547633164
NM_173660.5(DOK7):c.1255A>C (p.Ser419Arg) rs2109420373
NM_173660.5(DOK7):c.1258C>A (p.Pro420Thr) rs150497723
NM_173660.5(DOK7):c.1258C>T (p.Pro420Ser) rs150497723
NM_173660.5(DOK7):c.1262C>T (p.Pro421Leu)
NM_173660.5(DOK7):c.1269G>A (p.Gln423=) rs1247286969
NM_173660.5(DOK7):c.1272C>T (p.Gly424=) rs1728651445
NM_173660.5(DOK7):c.1277C>T (p.Pro426Leu)
NM_173660.5(DOK7):c.1279G>C (p.Gly427Arg) rs377555406
NM_173660.5(DOK7):c.1285A>G (p.Ser429Gly)
NM_173660.5(DOK7):c.1289C>G (p.Ala430Gly)
NM_173660.5(DOK7):c.1306G>A (p.Gly436Ser) rs201392182
NM_173660.5(DOK7):c.1306G>C (p.Gly436Arg) rs201392182
NM_173660.5(DOK7):c.1307G>A (p.Gly436Asp) rs1458938692
NM_173660.5(DOK7):c.1313C>T (p.Thr438Met) rs376805794
NM_173660.5(DOK7):c.1318G>T (p.Ala440Ser) rs753026831
NM_173660.5(DOK7):c.1321G>A (p.Gly441Arg) rs778266118
NM_173660.5(DOK7):c.1327C>T (p.Pro443Ser) rs748946433
NM_173660.5(DOK7):c.1340_1354del (p.Leu447_Arg451del) rs779508279
NM_173660.5(DOK7):c.1363G>A (p.Val455Met) rs765823074
NM_173660.5(DOK7):c.1368_1385del (p.Met456_Ser462delinsIle) rs1728665309
NM_173660.5(DOK7):c.1371G>T (p.Glu457Asp) rs1455617490
NM_173660.5(DOK7):c.1387G>C (p.Glu463Gln) rs745941308
NM_173660.5(DOK7):c.138_149del (p.Glu46_Gly50delinsAsp) rs1577148448
NM_173660.5(DOK7):c.139C>T (p.Arg47Cys) rs781665230
NM_173660.5(DOK7):c.1403_1408del (p.Gly468_Pro469del) rs762148551
NM_173660.5(DOK7):c.1403_1408dup (p.Gly468_Pro469dup) rs762148551
NM_173660.5(DOK7):c.1433G>A (p.Gly478Asp) rs2109422552
NM_173660.5(DOK7):c.1435G>C (p.Gly479Arg) rs140519765
NM_173660.5(DOK7):c.143T>C (p.Ile48Thr)
NM_173660.5(DOK7):c.1444G>T (p.Ala482Ser)
NM_173660.5(DOK7):c.1445C>A (p.Ala482Glu) rs767980190
NM_173660.5(DOK7):c.1445C>T (p.Ala482Val) rs767980190
NM_173660.5(DOK7):c.1459G>A (p.Ala487Thr) rs751342277
NM_173660.5(DOK7):c.1459G>C (p.Ala487Pro) rs751342277
NM_173660.5(DOK7):c.1469C>G (p.Ser490Trp) rs77513082
NM_173660.5(DOK7):c.1476T>G (p.Cys492Trp) rs768805841
NM_173660.5(DOK7):c.1487G>C (p.Gly496Ala) rs373205256
NM_173660.5(DOK7):c.1487G>T (p.Gly496Val) rs373205256
NM_173660.5(DOK7):c.1489G>C (p.Gly497Arg) rs751223916
NM_173660.5(DOK7):c.1497G>T (p.Lys499Asn) rs1560234858
NM_173660.5(DOK7):c.1498G>A (p.Val500Ile) rs1041024260
NM_173660.5(DOK7):c.1504C>T (p.Pro502Ser) rs779975668
NM_173660.5(DOK7):c.1510C>A (p.Pro504Thr) rs1560234920
NM_173660.5(DOK7):c.1515A>G (p.Ter505Trp) rs1553850437
NM_173660.5(DOK7):c.161G>T (p.Arg54Leu) rs201818140
NM_173660.5(DOK7):c.163A>T (p.Ser55Cys) rs550137245
NM_173660.5(DOK7):c.173C>T (p.Thr58Met)
NM_173660.5(DOK7):c.176T>C (p.Leu59Pro)
NM_173660.5(DOK7):c.185T>A (p.Ile62Asn)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.230C>A (p.Thr77Lys) rs940346413
NM_173660.5(DOK7):c.230C>G (p.Thr77Arg)
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.241G>C (p.Val81Leu) rs763046127
NM_173660.5(DOK7):c.264G>T (p.Met88Ile) rs1244768842
NM_173660.5(DOK7):c.289A>G (p.Met97Val) rs2109336403
NM_173660.5(DOK7):c.292T>A (p.Cys98Ser) rs1726898976
NM_173660.5(DOK7):c.317A>G (p.Tyr106Cys)
NM_173660.5(DOK7):c.31G>C (p.Val11Leu)
NM_173660.5(DOK7):c.331+4_331+5del rs2109336551
NM_173660.5(DOK7):c.332-18T>A
NM_173660.5(DOK7):c.355G>A (p.Ala119Thr) rs951094929
NM_173660.5(DOK7):c.364A>T (p.Thr122Ser)
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.383C>G (p.Pro128Arg)
NM_173660.5(DOK7):c.394C>A (p.His132Asn) rs755692930
NM_173660.5(DOK7):c.430A>T (p.Ile144Phe)
NM_173660.5(DOK7):c.43G>A (p.Asp15Asn) rs1726072530
NM_173660.5(DOK7):c.440C>T (p.Ala147Val) rs1560212754
NM_173660.5(DOK7):c.442G>T (p.Val148Phe) rs2109343658
NM_173660.5(DOK7):c.445A>G (p.Thr149Ala) rs759723884
NM_173660.5(DOK7):c.446C>T (p.Thr149Met)
NM_173660.5(DOK7):c.469C>G (p.Leu157Val) rs1727097545
NM_173660.5(DOK7):c.469C>T (p.Leu157Phe)
NM_173660.5(DOK7):c.46G>C (p.Gly16Arg) rs764824461
NM_173660.5(DOK7):c.487G>A (p.Val163Met) rs746946329
NM_173660.5(DOK7):c.487G>C (p.Val163Leu)
NM_173660.5(DOK7):c.493A>G (p.Ser165Gly) rs1470827824
NM_173660.5(DOK7):c.494G>A (p.Ser165Asn)
NM_173660.5(DOK7):c.518C>G (p.Thr173Ser)
NM_173660.5(DOK7):c.525T>G (p.Cys175Trp)
NM_173660.5(DOK7):c.532+4A>C
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) rs1727716645
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro) rs756146556
NM_173660.5(DOK7):c.54+34C>T rs751188494
NM_173660.5(DOK7):c.55-12_55-11del
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro) rs1220205278
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp) rs375631042
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp) rs1727720417
NM_173660.5(DOK7):c.583C>G (p.Leu195Val)
NM_173660.5(DOK7):c.588C>G (p.Phe196Leu) rs149940009
NM_173660.5(DOK7):c.612_625delinsGGACGGTTCTA (p.Pro205_Pro209delinsAspGlySerThr) rs1553847993
NM_173660.5(DOK7):c.619A>C (p.Lys207Gln) rs1240579533
NM_173660.5(DOK7):c.625C>A (p.Pro209Thr) rs759603846
NM_173660.5(DOK7):c.638G>C (p.Arg213Pro) rs371408752
NM_173660.5(DOK7):c.638G>T (p.Arg213Leu) rs371408752
NM_173660.5(DOK7):c.652+4C>T rs374675986
NM_173660.5(DOK7):c.652G>A (p.Asp218Asn)
NM_173660.5(DOK7):c.653-3C>T rs767745850
NM_173660.5(DOK7):c.654C>A (p.Asp218Glu) rs1728055459
NM_173660.5(DOK7):c.656C>G (p.Pro219Arg)
NM_173660.5(DOK7):c.661C>A (p.Pro221Thr) rs377167511
NM_173660.5(DOK7):c.661C>G (p.Pro221Ala)
NM_173660.5(DOK7):c.661C>T (p.Pro221Ser) rs377167511
NM_173660.5(DOK7):c.673T>G (p.Ser225Ala)
NM_173660.5(DOK7):c.685G>A (p.Glu229Lys)
NM_173660.5(DOK7):c.686A>G (p.Glu229Gly)
NM_173660.5(DOK7):c.68G>T (p.Trp23Leu) rs2109312461
NM_173660.5(DOK7):c.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr) rs2109389067
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del) rs373384998
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg) rs200407250
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) rs200407250
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.773-1G>A rs1268475752
NM_173660.5(DOK7):c.773-2A>C rs1229979805
NM_173660.5(DOK7):c.773-2A>T rs1229979805
NM_173660.5(DOK7):c.773-8_797del
NM_173660.5(DOK7):c.776A>C (p.Asp259Ala)
NM_173660.5(DOK7):c.7G>A (p.Glu3Lys) rs763233743
NM_173660.5(DOK7):c.805G>C (p.Glu269Gln)
NM_173660.5(DOK7):c.814C>T (p.His272Tyr) rs1226413438
NM_173660.5(DOK7):c.821A>C (p.Asp274Ala) rs1372127333
NM_173660.5(DOK7):c.856G>A (p.Glu286Lys) rs1577181909
NM_173660.5(DOK7):c.856G>C (p.Glu286Gln) rs1577181909
NM_173660.5(DOK7):c.85C>G (p.Pro29Ala)
NM_173660.5(DOK7):c.867GTC[1] (p.Ser291del) rs749831515
NM_173660.5(DOK7):c.868T>G (p.Ser290Ala)
NM_173660.5(DOK7):c.869C>T (p.Ser290Leu)
NM_173660.5(DOK7):c.875C>T (p.Ala292Val) rs761676338
NM_173660.5(DOK7):c.881C>A (p.Thr294Lys) rs151079259
NM_173660.5(DOK7):c.881C>T (p.Thr294Met)
NM_173660.5(DOK7):c.886_887inv (p.Gln296Trp)
NM_173660.5(DOK7):c.887A>T (p.Gln296Leu) rs6811423
NM_173660.5(DOK7):c.889G>A (p.Glu297Lys) rs1728590424
NM_173660.5(DOK7):c.893G>A (p.Gly298Glu) rs1553850025
NM_173660.5(DOK7):c.919G>C (p.Ala307Pro) rs150415034
NM_173660.5(DOK7):c.937G>A (p.Gly313Ser) rs1313698372
NM_173660.5(DOK7):c.94G>C (p.Val32Leu)
NM_173660.5(DOK7):c.956C>G (p.Pro319Arg) rs376334067
NM_173660.5(DOK7):c.97G>A (p.Ala33Thr) rs1425852835
NM_173660.5(DOK7):c.983A>G (p.Gln328Arg) rs752168445
NM_173660.5(DOK7):c.987G>C (p.Glu329Asp)
NM_173660.5(DOK7):c.98C>T (p.Ala33Val)
NM_198576.4(AGRN):c.1016G>A (p.Arg339His)
NM_198576.4(AGRN):c.1016G>T (p.Arg339Leu) rs1438592464
NM_198576.4(AGRN):c.1019C>G (p.Pro340Arg)
NM_198576.4(AGRN):c.1019C>T (p.Pro340Leu)
NM_198576.4(AGRN):c.1026G>C (p.Met342Ile) rs751462657
NM_198576.4(AGRN):c.1028T>C (p.Leu343Pro)
NM_198576.4(AGRN):c.1054C>G (p.Arg352Gly) rs149868381
NM_198576.4(AGRN):c.1060G>A (p.Ala354Thr)
NM_198576.4(AGRN):c.1061C>A (p.Ala354Glu)
NM_198576.4(AGRN):c.1061C>G (p.Ala354Gly)
NM_198576.4(AGRN):c.1064C>T (p.Pro355Leu) rs2100635172
NM_198576.4(AGRN):c.1066G>T (p.Val356Leu)
NM_198576.4(AGRN):c.1075G>A (p.Asp359Asn)
NM_198576.4(AGRN):c.1080C>A (p.Asp360Glu) rs750165361
NM_198576.4(AGRN):c.1099G>A (p.Asp367Asn) rs1417668906
NM_198576.4(AGRN):c.1105G>A (p.Val369Ile) rs2100635437
NM_198576.4(AGRN):c.1123G>A (p.Ala375Thr)
NM_198576.4(AGRN):c.1130G>A (p.Arg377Gln) rs1553174827
NM_198576.4(AGRN):c.1143_1144delinsAA (p.Gln382Lys) rs2100635728
NM_198576.4(AGRN):c.1144C>A (p.Gln382Lys) rs1557701584
NM_198576.4(AGRN):c.1145A>G (p.Gln382Arg) rs1553174830
NM_198576.4(AGRN):c.1157C>T (p.Ser386Phe) rs28450113
NM_198576.4(AGRN):c.1172G>A (p.Gly391Asp) rs747578197
NM_198576.4(AGRN):c.1182G>T (p.Gln394His) rs1343857691
NM_198576.4(AGRN):c.1187C>A (p.Pro396Gln) rs374230348
NM_198576.4(AGRN):c.1190A>G (p.Glu397Gly)
NM_198576.4(AGRN):c.1192C>A (p.Pro398Thr) rs138165746
NM_198576.4(AGRN):c.1231C>T (p.Arg411Cys)
NM_198576.4(AGRN):c.1235C>A (p.Pro412His) rs912828963
NM_198576.4(AGRN):c.1237C>T (p.Arg413Cys)
NM_198576.4(AGRN):c.1250A>G (p.Asp417Gly)
NM_198576.4(AGRN):c.1264G>A (p.Asp422Asn) rs1644958223
NM_198576.4(AGRN):c.1294G>A (p.Asp432Asn)
NM_198576.4(AGRN):c.1298G>C (p.Gly433Ala)
NM_198576.4(AGRN):c.1301G>A (p.Arg434His)
NM_198576.4(AGRN):c.1321T>C (p.Trp441Arg) rs746008311
NM_198576.4(AGRN):c.1331A>G (p.Gln444Arg)
NM_198576.4(AGRN):c.1333_1350dup (p.Gln450_Arg451insAlaGluCysArgGlnGln)
NM_198576.4(AGRN):c.1351C>T (p.Arg451Cys) rs974149667
NM_198576.4(AGRN):c.1372C>G (p.Gln458Glu)
NM_198576.4(AGRN):c.1384+3G>A rs1644962420
NM_198576.4(AGRN):c.1386C>G (p.Asp462Glu)
NM_198576.4(AGRN):c.1400C>T (p.Pro467Leu)
NM_198576.4(AGRN):c.1408G>A (p.Gly470Arg)
NM_198576.4(AGRN):c.1408G>T (p.Gly470Trp)
NM_198576.4(AGRN):c.1419T>G (p.Cys473Trp)
NM_198576.4(AGRN):c.1430C>T (p.Ala477Val)
NM_198576.4(AGRN):c.1433C>T (p.Thr478Met)
NM_198576.4(AGRN):c.1457C>T (p.Ala486Val) rs1644996879
NM_198576.4(AGRN):c.1460C>A (p.Ala487Glu) rs139302553
NM_198576.4(AGRN):c.1478C>T (p.Ala493Val)
NM_198576.4(AGRN):c.1493A>G (p.Tyr498Cys)
NM_198576.4(AGRN):c.1495G>T (p.Asp499Tyr) rs778233185
NM_198576.4(AGRN):c.1533C>G (p.Ser511Arg) rs778447033
NM_198576.4(AGRN):c.1538G>A (p.Cys513Tyr)
NM_198576.4(AGRN):c.1543C>G (p.Leu515Val) rs1007639697
NM_198576.4(AGRN):c.1562C>T (p.Thr521Ile) rs763120539
NM_198576.4(AGRN):c.1589G>T (p.Arg530Leu) rs139590454
NM_198576.4(AGRN):c.1603+3C>T
NM_198576.4(AGRN):c.1604-6C>T rs1432022848
NM_198576.4(AGRN):c.1612G>T (p.Gly538Trp) rs558214372
NM_198576.4(AGRN):c.1621C>T (p.Arg541Cys)
NM_198576.4(AGRN):c.1639G>A (p.Glu547Lys)
NM_198576.4(AGRN):c.1652G>A (p.Gly551Glu)
NM_198576.4(AGRN):c.1659C>G (p.Cys553Trp) rs541915367
NM_198576.4(AGRN):c.1665C>G (p.Cys555Trp)
NM_198576.4(AGRN):c.1666C>T (p.Pro556Ser) rs768688446
NM_198576.4(AGRN):c.1711G>A (p.Gly571Arg)
NM_198576.4(AGRN):c.1732T>A (p.Cys578Ser) rs1324176773
NM_198576.4(AGRN):c.1743C>G (p.His581Gln) rs201239522
NM_198576.4(AGRN):c.1765A>G (p.Ile589Val) rs1333774861
NM_198576.4(AGRN):c.1783_1784delinsCT (p.Ser595Leu) rs1645011212
NM_198576.4(AGRN):c.1789G>A (p.Gly597Arg)
NM_198576.4(AGRN):c.1792C>T (p.Pro598Ser)
NM_198576.4(AGRN):c.1816G>A (p.Val606Met) rs747982009
NM_198576.4(AGRN):c.1826T>C (p.Phe609Ser) rs1246417325
NM_198576.4(AGRN):c.1843G>T (p.Ala615Ser) rs762357955
NM_198576.4(AGRN):c.1856T>C (p.Val619Ala) rs1320843935
NM_198576.4(AGRN):c.1873C>T (p.His625Tyr) rs1487673393
NM_198576.4(AGRN):c.1879C>G (p.Pro627Ala) rs1180781232
NM_198576.4(AGRN):c.1879C>T (p.Pro627Ser) rs1180781232
NM_198576.4(AGRN):c.1885G>A (p.Gly629Ser)
NM_198576.4(AGRN):c.1903G>A (p.Asp635Asn)
NM_198576.4(AGRN):c.1906G>C (p.Gly636Arg)
NM_198576.4(AGRN):c.1906_1911del (p.Gly636_Val637del)
NM_198576.4(AGRN):c.1951C>G (p.Leu651Val) rs754639566
NM_198576.4(AGRN):c.1961C>T (p.Thr654Ile)
NM_198576.4(AGRN):c.1972G>A (p.Glu658Lys)
NM_198576.4(AGRN):c.1979G>A (p.Arg660Gln) rs370983524
NM_198576.4(AGRN):c.1979G>T (p.Arg660Leu) rs370983524
NM_198576.4(AGRN):c.1999+4G>A rs55852615
NM_198576.4(AGRN):c.2000-3C>T
NM_198576.4(AGRN):c.2000-5C>G rs757769063
NM_198576.4(AGRN):c.2042A>G (p.Asp681Gly) rs1645026070
NM_198576.4(AGRN):c.2048A>C (p.Glu683Ala)
NM_198576.4(AGRN):c.2068C>T (p.Arg690Cys) rs1645026919
NM_198576.4(AGRN):c.2083G>C (p.Asp695His)
NM_198576.4(AGRN):c.2086G>C (p.Glu696Gln) rs143010947
NM_198576.4(AGRN):c.2089G>A (p.Asp697Asn) rs148201851
NM_198576.4(AGRN):c.2098G>A (p.Asp700Asn) rs1246526127
NM_198576.4(AGRN):c.20C>G (p.Pro7Arg) rs1389840850
NM_198576.4(AGRN):c.20C>T (p.Pro7Leu) rs1389840850
NM_198576.4(AGRN):c.2105C>A (p.Pro702Gln) rs149814455
NM_198576.4(AGRN):c.2105C>T (p.Pro702Leu) rs149814455
NM_198576.4(AGRN):c.2159C>T (p.Ser720Leu) rs2100649359
NM_198576.4(AGRN):c.2197_2198delinsGC (p.Lys733Ala) rs2100649601
NM_198576.4(AGRN):c.2222G>T (p.Gly741Val)
NM_198576.4(AGRN):c.2225T>C (p.Leu742Pro) rs2100649704
NM_198576.4(AGRN):c.2270C>A (p.Pro757Gln)
NM_198576.4(AGRN):c.2270C>G (p.Pro757Arg) rs202172924
NM_198576.4(AGRN):c.2284G>T (p.Ala762Ser)
NM_198576.4(AGRN):c.2295C>G (p.His765Gln)
NM_198576.4(AGRN):c.2308C>T (p.Pro770Ser)
NM_198576.4(AGRN):c.2329A>G (p.Asn777Asp) rs777783441
NM_198576.4(AGRN):c.232G>A (p.Asp78Asn) rs1570131308
NM_198576.4(AGRN):c.2330A>G (p.Asn777Ser)
NM_198576.4(AGRN):c.2341G>A (p.Ala781Thr) rs2100653148
NM_198576.4(AGRN):c.2342C>A (p.Ala781Asp) rs868527594
NM_198576.4(AGRN):c.2359G>T (p.Ala787Ser) rs1645058185
NM_198576.4(AGRN):c.2360C>G (p.Ala787Gly) rs560842858
NM_198576.4(AGRN):c.23G>C (p.Gly8Ala)
NM_198576.4(AGRN):c.2444G>T (p.Arg815Leu) rs755142502
NM_198576.4(AGRN):c.2482C>T (p.Pro828Ser) rs773983766
NM_198576.4(AGRN):c.2486G>A (p.Gly829Asp)
NM_198576.4(AGRN):c.2500_2501delinsGA (p.Arg834Glu) rs1645065370
NM_198576.4(AGRN):c.2509G>A (p.Val837Ile)
NM_198576.4(AGRN):c.2536+3G>T
NM_198576.4(AGRN):c.2536+4A>G rs772478233
NM_198576.4(AGRN):c.2542A>G (p.Ser848Gly)
NM_198576.4(AGRN):c.2560G>A (p.Ala854Thr)
NM_198576.4(AGRN):c.2566C>G (p.Arg856Gly) rs770329947
NM_198576.4(AGRN):c.2570A>G (p.Asp857Gly) rs1645073077
NM_198576.4(AGRN):c.2611G>T (p.Gly871Trp)
NM_198576.4(AGRN):c.2637G>T (p.Gln879His) rs1267005027
NM_198576.4(AGRN):c.2650C>G (p.Arg884Gly)
NM_198576.4(AGRN):c.2650C>T (p.Arg884Cys) rs539990009
NM_198576.4(AGRN):c.2653G>A (p.Ala885Thr) rs1400043784
NM_198576.4(AGRN):c.2656C>G (p.Leu886Val) rs1343116368
NM_198576.4(AGRN):c.2665G>A (p.Ala889Thr)
NM_198576.4(AGRN):c.2666C>A (p.Ala889Glu)
NM_198576.4(AGRN):c.266G>T (p.Gly89Val)
NM_198576.4(AGRN):c.2671T>C (p.Cys891Arg)
NM_198576.4(AGRN):c.2684C>G (p.Ala895Gly) rs1570220791
NM_198576.4(AGRN):c.2699C>G (p.Thr900Ser)
NM_198576.4(AGRN):c.2699C>T (p.Thr900Ile)
NM_198576.4(AGRN):c.269A>G (p.Asn90Ser) rs1260100487
NM_198576.4(AGRN):c.2713C>G (p.Arg905Gly) rs199593375
NM_198576.4(AGRN):c.2713C>T (p.Arg905Cys) rs199593375
NM_198576.4(AGRN):c.2726G>C (p.Gly909Ala)
NM_198576.4(AGRN):c.2746T>C (p.Ser916Pro) rs759245681
NM_198576.4(AGRN):c.2750G>A (p.Gly917Asp) rs2100656885
NM_198576.4(AGRN):c.2789A>C (p.Glu930Ala)
NM_198576.4(AGRN):c.2794A>G (p.Asn932Asp)
NM_198576.4(AGRN):c.2824G>A (p.Val942Ile)
NM_198576.4(AGRN):c.2833G>A (p.Gly945Ser) rs911274904
NM_198576.4(AGRN):c.2861C>T (p.Ala954Val) rs2100657779
NM_198576.4(AGRN):c.2882T>A (p.Ile961Asn) rs2100657894
NM_198576.4(AGRN):c.2894G>A (p.Ser965Asn) rs779593673
NM_198576.4(AGRN):c.28C>A (p.Leu10Met) rs1226970553
NM_198576.4(AGRN):c.2908C>G (p.Gln970Glu) rs1645090139
NM_198576.4(AGRN):c.2941T>C (p.Ser981Pro) rs1645095834
NM_198576.4(AGRN):c.2956G>A (p.Val986Met)
NM_198576.4(AGRN):c.298C>T (p.Pro100Ser) rs773486550
NM_198576.4(AGRN):c.2993C>A (p.Pro998Gln)
NM_198576.4(AGRN):c.3001C>A (p.Pro1001Thr) rs752212460
NM_198576.4(AGRN):c.3001C>G (p.Pro1001Ala)
NM_198576.4(AGRN):c.3001C>T (p.Pro1001Ser) rs752212460
NM_198576.4(AGRN):c.3004G>C (p.Gly1002Arg) rs757677789
NM_198576.4(AGRN):c.3014C>T (p.Pro1005Leu)
NM_198576.4(AGRN):c.3034G>C (p.Ala1012Pro)
NM_198576.4(AGRN):c.3046A>G (p.Thr1016Ala) rs1553176512
NM_198576.4(AGRN):c.3064T>A (p.Ser1022Thr)
NM_198576.4(AGRN):c.3065_3066inv (p.Ser1022Leu)
NM_198576.4(AGRN):c.3073C>T (p.Arg1025Trp)
NM_198576.4(AGRN):c.3083C>G (p.Ala1028Gly) rs1645101488
NM_198576.4(AGRN):c.3083_3103dup (p.Ala1028_Thr1034dup) rs1205084879
NM_198576.4(AGRN):c.3087C>A (p.Ser1029Arg)
NM_198576.4(AGRN):c.3094A>G (p.Arg1032Gly)
NM_198576.4(AGRN):c.3104T>C (p.Val1035Ala) rs1292494843
NM_198576.4(AGRN):c.3106_3108del (p.Trp1036del)
NM_198576.4(AGRN):c.3107G>T (p.Trp1036Leu)
NM_198576.4(AGRN):c.3112G>A (p.Val1038Met)
NM_198576.4(AGRN):c.3187A>G (p.Thr1063Ala)
NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu) rs1570225219
NM_198576.4(AGRN):c.3202G>A (p.Asp1068Asn)
NM_198576.4(AGRN):c.3205G>A (p.Glu1069Lys)
NM_198576.4(AGRN):c.3217G>A (p.Gly1073Arg)
NM_198576.4(AGRN):c.3220G>A (p.Asp1074Asn) rs1645106250
NM_198576.4(AGRN):c.3250+6C>T rs1645107309
NM_198576.4(AGRN):c.3251-7T>G rs1570225831
NM_198576.4(AGRN):c.3258G>T (p.Glu1086Asp)
NM_198576.4(AGRN):c.3264G>T (p.Leu1088Phe) rs150132566
NM_198576.4(AGRN):c.3271A>G (p.Ser1091Gly)
NM_198576.4(AGRN):c.3272G>A (p.Ser1091Asn) rs977284297
NM_198576.4(AGRN):c.3292C>A (p.Pro1098Thr) rs1431057237
NM_198576.4(AGRN):c.32G>A (p.Arg11Gln)
NM_198576.4(AGRN):c.32_40del (p.Arg11_Leu13del)
NM_198576.4(AGRN):c.3316T>C (p.Tyr1106His)
NM_198576.4(AGRN):c.3326C>T (p.Ala1109Val)
NM_198576.4(AGRN):c.3328T>A (p.Leu1110Met) rs1297179716
NM_198576.4(AGRN):c.3343G>A (p.Asp1115Asn) rs1645113298
NM_198576.4(AGRN):c.3353C>T (p.Thr1118Met) rs149159118
NM_198576.4(AGRN):c.3359C>T (p.Ser1120Leu)
NM_198576.4(AGRN):c.3370G>C (p.Glu1124Gln)
NM_198576.4(AGRN):c.3389-3C>T rs1350989602
NM_198576.4(AGRN):c.3427G>A (p.Val1143Ile)
NM_198576.4(AGRN):c.3430G>C (p.Glu1144Gln)
NM_198576.4(AGRN):c.3470C>T (p.Pro1157Leu) rs2100663740
NM_198576.4(AGRN):c.3473A>G (p.Lys1158Arg)
NM_198576.4(AGRN):c.3485T>C (p.Phe1162Ser)
NM_198576.4(AGRN):c.3487G>A (p.Gly1163Arg) rs1390460146
NM_198576.4(AGRN):c.34C>T (p.Pro12Ser)
NM_198576.4(AGRN):c.3501G>T (p.Arg1167Ser)
NM_198576.4(AGRN):c.350T>C (p.Val117Ala) rs2100563474
NM_198576.4(AGRN):c.3515C>A (p.Thr1172Asn) rs375197922
NM_198576.4(AGRN):c.3517-3C>T rs2100664552
NM_198576.4(AGRN):c.3523_3524delinsAG (p.Asp1175Ser) rs2100664623
NM_198576.4(AGRN):c.3539C>T (p.Ser1180Leu) rs1645136422
NM_198576.4(AGRN):c.3542A>G (p.Asp1181Gly) rs2100664751
NM_198576.4(AGRN):c.3568C>T (p.Arg1190Cys) rs766825692
NM_198576.4(AGRN):c.3569G>C (p.Arg1190Pro) rs149762107
NM_198576.4(AGRN):c.3574C>T (p.Arg1192Trp) rs565447598
NM_198576.4(AGRN):c.3579C>G (p.Asp1193Glu) rs924458131
NM_198576.4(AGRN):c.3598G>T (p.Val1200Phe) rs755901578
NM_198576.4(AGRN):c.359C>T (p.Ala120Val)
NM_198576.4(AGRN):c.3608T>C (p.Ile1203Thr)
NM_198576.4(AGRN):c.3619C>T (p.His1207Tyr) rs2100665199
NM_198576.4(AGRN):c.362C>A (p.Pro121His) rs533320704
NM_198576.4(AGRN):c.3638C>A (p.Ala1213Asp) rs2100665678
NM_198576.4(AGRN):c.3685G>A (p.Val1229Met) rs528146665
NM_198576.4(AGRN):c.3694C>A (p.Arg1232Ser) rs777331097
NM_198576.4(AGRN):c.3695G>A (p.Arg1232His) rs746435538
NM_198576.4(AGRN):c.3701C>T (p.Ser1234Phe) rs1433503299
NM_198576.4(AGRN):c.3716G>A (p.Arg1239Gln)
NM_198576.4(AGRN):c.3719C>A (p.Pro1240Gln) rs142620337
NM_198576.4(AGRN):c.371T>C (p.Leu124Pro) rs1644425409
NM_198576.4(AGRN):c.3740T>C (p.Phe1247Ser)
NM_198576.4(AGRN):c.3751+6C>T rs756678012
NM_198576.4(AGRN):c.3760C>T (p.Pro1254Ser) rs1207410103
NM_198576.4(AGRN):c.3761C>T (p.Pro1254Leu) rs2100667321
NM_198576.4(AGRN):c.3790G>T (p.Ala1264Ser)
NM_198576.4(AGRN):c.37C>G (p.Leu13Val) rs2100555271
NM_198576.4(AGRN):c.3800C>T (p.Ala1267Val)
NM_198576.4(AGRN):c.3806C>A (p.Ala1269Asp)
NM_198576.4(AGRN):c.380C>T (p.Ala127Val) rs755949709
NM_198576.4(AGRN):c.3815G>A (p.Arg1272Lys) rs1570232895
NM_198576.4(AGRN):c.3816A>C (p.Arg1272Ser)
NM_198576.4(AGRN):c.3821C>A (p.Thr1274Asn) rs1645153244
NM_198576.4(AGRN):c.3833G>T (p.Arg1278Leu) rs542631667
NM_198576.4(AGRN):c.3844T>C (p.Ser1282Pro) rs1557714258
NM_198576.4(AGRN):c.3865C>T (p.Pro1289Ser) rs2100668078
NM_198576.4(AGRN):c.3870C>A (p.His1290Gln) rs1645155187
NM_198576.4(AGRN):c.3916A>G (p.Thr1306Ala)
NM_198576.4(AGRN):c.3922C>G (p.Arg1308Gly)
NM_198576.4(AGRN):c.3923G>A (p.Arg1308His) rs771823174
NM_198576.4(AGRN):c.3923G>T (p.Arg1308Leu) rs771823174
NM_198576.4(AGRN):c.3965G>A (p.Arg1322Gln)
NM_198576.4(AGRN):c.3974C>G (p.Ala1325Gly) rs745406424
NM_198576.4(AGRN):c.3980A>G (p.Gln1327Arg)
NM_198576.4(AGRN):c.39_47dup (p.12_14PLL[3]) rs1196847979
NM_198576.4(AGRN):c.4013G>T (p.Cys1338Phe)
NM_198576.4(AGRN):c.4021G>C (p.Gly1341Arg) rs372543866
NM_198576.4(AGRN):c.403A>G (p.Asn135Asp)
NM_198576.4(AGRN):c.4061C>T (p.Thr1354Ile)
NM_198576.4(AGRN):c.4091C>T (p.Ala1364Val)
NM_198576.4(AGRN):c.4106-3C>T rs1304973610
NM_198576.4(AGRN):c.4120G>T (p.Val1374Leu) rs1057523585
NM_198576.4(AGRN):c.4131C>G (p.Phe1377Leu) rs368555478
NM_198576.4(AGRN):c.4166G>A (p.Arg1389His)
NM_198576.4(AGRN):c.4183C>T (p.Arg1395Cys) rs1015396973
NM_198576.4(AGRN):c.4200C>G (p.Phe1400Leu) rs1570237178
NM_198576.4(AGRN):c.4212G>C (p.Glu1404Asp)
NM_198576.4(AGRN):c.421A>C (p.Ile141Leu)
NM_198576.4(AGRN):c.4223T>G (p.Leu1408Arg)
NM_198576.4(AGRN):c.422T>C (p.Ile141Thr) rs2100563748
NM_198576.4(AGRN):c.4234A>G (p.Asn1412Asp) rs1435842060
NM_198576.4(AGRN):c.4237G>A (p.Gly1413Ser)
NM_198576.4(AGRN):c.4238G>A (p.Gly1413Asp) rs2100673336
NM_198576.4(AGRN):c.4244C>A (p.Ala1415Asp)
NM_198576.4(AGRN):c.4246C>T (p.Arg1416Trp)
NM_198576.4(AGRN):c.4247G>A (p.Arg1416Gln) rs759552420
NM_198576.4(AGRN):c.4250G>A (p.Gly1417Asp)
NM_198576.4(AGRN):c.4285C>A (p.Arg1429Ser) rs201346452
NM_198576.4(AGRN):c.4297A>G (p.Arg1433Gly) rs1645188866
NM_198576.4(AGRN):c.4298+21_4298+22insGGGGGGAGGGGGGGGCCGGGGCAGCTCAGGTGGGCGGGGAGGGGACGGGG
NM_198576.4(AGRN):c.4298+21_4298+55dup rs1156907002
NM_198576.4(AGRN):c.4310G>A (p.Gly1437Asp) rs1645200273
NM_198576.4(AGRN):c.431G>A (p.Arg144Gln) rs760143672
NM_198576.4(AGRN):c.4322C>T (p.Ala1441Val)
NM_198576.4(AGRN):c.4339G>A (p.Val1447Met) rs201436229
NM_198576.4(AGRN):c.4339G>T (p.Val1447Leu)
NM_198576.4(AGRN):c.4348G>A (p.Glu1450Lys)
NM_198576.4(AGRN):c.4366C>T (p.Arg1456Cys) rs749059305
NM_198576.4(AGRN):c.4379C>A (p.Ser1460Tyr) rs1553177633
NM_198576.4(AGRN):c.4382G>A (p.Arg1461Gln)
NM_198576.4(AGRN):c.4385A>G (p.His1462Arg) rs1478532829
NM_198576.4(AGRN):c.4390C>T (p.Arg1464Cys)
NM_198576.4(AGRN):c.4397G>C (p.Gly1466Ala) rs1436879072
NM_198576.4(AGRN):c.4397G>T (p.Gly1466Val)
NM_198576.4(AGRN):c.4406C>G (p.Ser1469Trp) rs200646795
NM_198576.4(AGRN):c.4414G>T (p.Gly1472Cys)
NM_198576.4(AGRN):c.4420A>T (p.Thr1474Ser)
NM_198576.4(AGRN):c.4423C>T (p.Pro1475Ser) rs1645204517
NM_198576.4(AGRN):c.4432G>A (p.Gly1478Ser)
NM_198576.4(AGRN):c.4434C>T (p.Gly1478=) rs372592323
NM_198576.4(AGRN):c.4450A>G (p.Thr1484Ala) rs2100676449
NM_198576.4(AGRN):c.4498G>A (p.Glu1500Lys)
NM_198576.4(AGRN):c.44C>T (p.Pro15Leu) rs764659938
NM_198576.4(AGRN):c.44_45delinsGT (p.Pro15Arg) rs1553170743
NM_198576.4(AGRN):c.4507G>A (p.Ala1503Thr) rs1237992098
NM_198576.4(AGRN):c.4514+12G>A
NM_198576.4(AGRN):c.4514+15G>A
NM_198576.4(AGRN):c.4525C>T (p.Arg1509Trp)
NM_198576.4(AGRN):c.4537G>C (p.Gly1513Arg)
NM_198576.4(AGRN):c.4607C>T (p.Pro1536Leu)
NM_198576.4(AGRN):c.4632C>T (p.Gly1544=)
NM_198576.4(AGRN):c.4644C>G (p.Cys1548Trp)
NM_198576.4(AGRN):c.4652A>G (p.His1551Arg) rs377529093
NM_198576.4(AGRN):c.4681G>A (p.Gly1561Arg)
NM_198576.4(AGRN):c.4708G>A (p.Gly1570Arg)
NM_198576.4(AGRN):c.4713G>T (p.Arg1571Ser)
NM_198576.4(AGRN):c.4728C>G (p.Cys1576Trp) rs931498089
NM_198576.4(AGRN):c.4732C>T (p.Pro1578Ser) rs1645221054
NM_198576.4(AGRN):c.4739G>A (p.Arg1580His)
NM_198576.4(AGRN):c.4739G>T (p.Arg1580Leu) rs780013869
NM_198576.4(AGRN):c.4745G>C (p.Gly1582Ala) rs202069635
NM_198576.4(AGRN):c.4769G>C (p.Ser1590Thr) rs1645227970
NM_198576.4(AGRN):c.4770C>A (p.Ser1590Arg)
NM_198576.4(AGRN):c.4779_4793dup (p.Gln1593_Cys1597dup) rs769494139
NM_198576.4(AGRN):c.478C>G (p.His160Asp) rs752637758
NM_198576.4(AGRN):c.4790G>C (p.Cys1597Ser) rs376955370
NM_198576.4(AGRN):c.4790G>T (p.Cys1597Phe) rs376955370
NM_198576.4(AGRN):c.4810C>T (p.Arg1604Cys) rs201353978
NM_198576.4(AGRN):c.483C>A (p.Phe161Leu) rs192831476
NM_198576.4(AGRN):c.4844G>A (p.Cys1615Tyr) rs1645231004
NM_198576.4(AGRN):c.484A>G (p.Thr162Ala) rs1250043774
NM_198576.4(AGRN):c.4856G>A (p.Arg1619His) rs753675816
NM_198576.4(AGRN):c.4879+3C>T
NM_198576.4(AGRN):c.4903C>T (p.Pro1635Ser) rs2100681928
NM_198576.4(AGRN):c.4915G>T (p.Asp1639Tyr)
NM_198576.4(AGRN):c.4921A>G (p.Asn1641Asp) rs1480378637
NM_198576.4(AGRN):c.4931C>G (p.Ser1644Cys) rs753103771
NM_198576.4(AGRN):c.4949G>T (p.Gly1650Val)
NM_198576.4(AGRN):c.4958C>T (p.Thr1653Ile) rs775832705
NM_198576.4(AGRN):c.4973T>C (p.Leu1658Pro) rs1645244659
NM_198576.4(AGRN):c.4976+4G>T rs565518558
NM_198576.4(AGRN):c.4976+5G>C rs1553177963
NM_198576.4(AGRN):c.497C>T (p.Pro166Leu)
NM_198576.4(AGRN):c.4987G>A (p.Ala1663Thr)
NM_198576.4(AGRN):c.4996G>T (p.Val1666Phe) rs17160775
NM_198576.4(AGRN):c.5009C>T (p.Ala1670Val)
NM_198576.4(AGRN):c.5011C>G (p.Arg1671Gly)
NM_198576.4(AGRN):c.5015G>A (p.Gly1672Asp) rs1570244934
NM_198576.4(AGRN):c.5032C>T (p.Leu1678Phe) rs1479456891
NM_198576.4(AGRN):c.5038A>G (p.Asn1680Asp) rs1557719897
NM_198576.4(AGRN):c.5048A>T (p.Lys1683Met)
NM_198576.4(AGRN):c.5050A>C (p.Thr1684Pro)
NM_198576.4(AGRN):c.5050_5052del (p.Thr1684del) rs765397453
NM_198576.4(AGRN):c.5051C>T (p.Thr1684Met)
NM_198576.4(AGRN):c.5070C>G (p.Phe1690Leu)
NM_198576.4(AGRN):c.5086C>T (p.Arg1696Trp) rs201286940
NM_198576.4(AGRN):c.5092C>A (p.Arg1698Ser)
NM_198576.4(AGRN):c.5092C>G (p.Arg1698Gly) rs771576402
NM_198576.4(AGRN):c.5092C>T (p.Arg1698Cys)
NM_198576.4(AGRN):c.5107C>G (p.Arg1703Gly)
NM_198576.4(AGRN):c.5108G>A (p.Arg1703His) rs371946683
NM_198576.4(AGRN):c.5108G>T (p.Arg1703Leu)
NM_198576.4(AGRN):c.5119G>A (p.Gly1707Ser)
NM_198576.4(AGRN):c.5120G>A (p.Gly1707Asp)
NM_198576.4(AGRN):c.5121C>T (p.Gly1707=) rs1457021881
NM_198576.4(AGRN):c.5124G>T (p.Lys1708Asn)
NM_198576.4(AGRN):c.512C>T (p.Ala171Val)
NM_198576.4(AGRN):c.5132C>T (p.Ala1711Val)
NM_198576.4(AGRN):c.5141+4G>A rs2100683834
NM_198576.4(AGRN):c.5141+5G>T rs778508611
NM_198576.4(AGRN):c.5146A>G (p.Arg1716Gly) rs1022796152
NM_198576.4(AGRN):c.5153C>T (p.Pro1718Leu) rs1570246147
NM_198576.4(AGRN):c.5162T>C (p.Leu1721Pro)
NM_198576.4(AGRN):c.5170T>A (p.Trp1724Arg) rs1448487408
NM_198576.4(AGRN):c.5186T>C (p.Leu1729Pro) rs2100684858
NM_198576.4(AGRN):c.5201G>C (p.Arg1734Pro) rs145444272
NM_198576.4(AGRN):c.5201G>T (p.Arg1734Leu) rs145444272
NM_198576.4(AGRN):c.5222G>T (p.Gly1741Val) rs2100685108
NM_198576.4(AGRN):c.5224G>A (p.Asp1742Asn) rs773290813
NM_198576.4(AGRN):c.5234G>A (p.Arg1745His)
NM_198576.4(AGRN):c.5253G>A (p.Pro1751=) rs13303235
NM_198576.4(AGRN):c.5266G>A (p.Val1756Ile) rs760176911
NM_198576.4(AGRN):c.5273A>T (p.Asn1758Ile) rs2100687539
NM_198576.4(AGRN):c.5294T>C (p.Val1765Ala) rs1645279656
NM_198576.4(AGRN):c.5305C>T (p.Pro1769Ser) rs1446898012
NM_198576.4(AGRN):c.5315_5317del (p.Ser1772del) rs1302115581
NM_198576.4(AGRN):c.5328TGC[4] (p.Ala1779dup) rs1645281090
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr) rs538792693
NM_198576.4(AGRN):c.5353G>C (p.Asp1785His) rs144245019
NM_198576.4(AGRN):c.535_540del (p.Phe179_Gly180del)
NM_198576.4(AGRN):c.5372T>C (p.Val1791Ala) rs2100688589
NM_198576.4(AGRN):c.538G>C (p.Gly180Arg)
NM_198576.4(AGRN):c.5395C>G (p.Leu1799Val)
NM_198576.4(AGRN):c.53TGG[1] (p.Val19del) rs1039651972
NM_198576.4(AGRN):c.5401C>T (p.Pro1801Ser) rs2100688731
NM_198576.4(AGRN):c.5409C>A (p.His1803Gln) rs192987166
NM_198576.4(AGRN):c.5441C>T (p.Ala1814Val) rs544353964
NM_198576.4(AGRN):c.544G>A (p.Val182Met) rs561344136
NM_198576.4(AGRN):c.5456C>T (p.Thr1819Ile) rs72900459
NM_198576.4(AGRN):c.5458C>A (p.Arg1820=) rs752720189
NM_198576.4(AGRN):c.5512G>A (p.Ala1838Thr)
NM_198576.4(AGRN):c.5516A>G (p.Tyr1839Cys) rs1553178384
NM_198576.4(AGRN):c.5533G>A (p.Gly1845Arg) rs750311204
NM_198576.4(AGRN):c.5555G>T (p.Cys1852Phe) rs1645295133
NM_198576.4(AGRN):c.5556C>G (p.Cys1852Trp) rs538293035
NM_198576.4(AGRN):c.5574G>T (p.Glu1858Asp) rs1645298543
NM_198576.4(AGRN):c.5597C>A (p.Thr1866Asn)
NM_198576.4(AGRN):c.5614C>T (p.Arg1872Trp) rs751301380
NM_198576.4(AGRN):c.5618C>G (p.Thr1873Ser)
NM_198576.4(AGRN):c.5622T>A (p.Phe1874Leu) rs1645300315
NM_198576.4(AGRN):c.5638G>A (p.Ala1880Thr)
NM_198576.4(AGRN):c.5659G>A (p.Ala1887Thr) rs1438398169
NM_198576.4(AGRN):c.565G>A (p.Gly189Arg) rs1245517864
NM_198576.4(AGRN):c.5725A>C (p.Ser1909Arg) rs1553178845
NM_198576.4(AGRN):c.5738C>G (p.Thr1913Arg) rs201604787
NM_198576.4(AGRN):c.5749G>C (p.Asp1917His)
NM_198576.4(AGRN):c.574C>G (p.Arg192Gly)
NM_198576.4(AGRN):c.5837C>T (p.Pro1946Leu) rs771364268
NM_198576.4(AGRN):c.5873A>G (p.His1958Arg)
NM_198576.4(AGRN):c.5908A>G (p.Asn1970Asp) rs1473312060
NM_198576.4(AGRN):c.5917C>T (p.Pro1973Ser)
NM_198576.4(AGRN):c.593AGA[1] (p.Lys199del) rs749209897
NM_198576.4(AGRN):c.5942G>T (p.Gly1981Val) rs2100702471
NM_198576.4(AGRN):c.5954_5955delinsAT (p.Leu1985His)
NM_198576.4(AGRN):c.5965G>T (p.Gly1989Ter)
NM_198576.4(AGRN):c.5976G>A (p.Trp1992Ter) rs776480996
NM_198576.4(AGRN):c.5976G>T (p.Trp1992Cys) rs776480996
NM_198576.4(AGRN):c.6019A>G (p.Lys2007Glu) rs1057522367
NM_198576.4(AGRN):c.601C>G (p.Pro201Ala)
NM_198576.4(AGRN):c.6020A>G (p.Lys2007Arg) rs1645410114
NM_198576.4(AGRN):c.6035G>C (p.Gly2012Ala) rs1645410786
NM_198576.4(AGRN):c.6057C>G (p.Asp2019Glu)
NM_198576.4(AGRN):c.6058G>A (p.Val2020Met)
NM_198576.4(AGRN):c.6059TGG[2] (p.Val2022del) rs1645411691
NM_198576.4(AGRN):c.6071G>A (p.Arg2024Gln)
NM_198576.4(AGRN):c.608C>T (p.Pro203Leu) rs2100629640
NM_198576.4(AGRN):c.6094G>A (p.Asp2032Asn)
NM_198576.4(AGRN):c.61G>T (p.Ala21Ser)
NM_198576.4(AGRN):c.620C>A (p.Ala207Glu)
NM_198576.4(AGRN):c.623C>T (p.Pro208Leu) rs1644908404
NM_198576.4(AGRN):c.650A>G (p.Tyr217Cys) rs2100629904
NM_198576.4(AGRN):c.658G>C (p.Glu220Gln) rs2100629952
NM_198576.4(AGRN):c.65G>A (p.Cys22Tyr) rs2100555461
NM_198576.4(AGRN):c.676G>T (p.Ala226Ser) rs1449784681
NM_198576.4(AGRN):c.697C>G (p.Arg233Gly)
NM_198576.4(AGRN):c.700A>G (p.Ile234Val) rs1644910909
NM_198576.4(AGRN):c.718G>A (p.Gly240Arg) rs754282794
NM_198576.4(AGRN):c.718G>T (p.Gly240Trp) rs754282794
NM_198576.4(AGRN):c.728-5C>T rs2100632585
NM_198576.4(AGRN):c.749A>T (p.Asn250Ile)
NM_198576.4(AGRN):c.750C>G (p.Asn250Lys) rs1644924796
NM_198576.4(AGRN):c.751G>A (p.Val251Met)
NM_198576.4(AGRN):c.762C>G (p.Ser254Arg)
NM_198576.4(AGRN):c.763T>C (p.Phe255Leu) rs2100632861
NM_198576.4(AGRN):c.772_783del (p.Thr258_Arg261del)
NM_198576.4(AGRN):c.77G>A (p.Gly26Glu)
NM_198576.4(AGRN):c.792C>A (p.Asp264Glu) rs1017639651
NM_198576.4(AGRN):c.793G>A (p.Gly265Arg) rs1180169378
NM_198576.4(AGRN):c.799A>G (p.Thr267Ala) rs758948924
NM_198576.4(AGRN):c.802_803delinsAT (p.Ala268Ile) rs1644926945
NM_198576.4(AGRN):c.829C>G (p.Arg277Gly) rs1256837701
NM_198576.4(AGRN):c.843G>C (p.Glu281Asp)
NM_198576.4(AGRN):c.866G>A (p.Gly289Asp) rs2100633451
NM_198576.4(AGRN):c.86G>A (p.Gly29Glu) rs1224863987
NM_198576.4(AGRN):c.873C>A (p.Asp291Glu) rs2100633463
NM_198576.4(AGRN):c.904G>T (p.Ala302Ser) rs1318084676
NM_198576.4(AGRN):c.905C>G (p.Ala302Gly)
NM_198576.4(AGRN):c.917A>T (p.Gln306Leu)
NM_198576.4(AGRN):c.923A>G (p.Asn308Ser)
NM_198576.4(AGRN):c.928T>C (p.Phe310Leu)
NM_198576.4(AGRN):c.92G>T (p.Cys31Phe) rs2100555629
NM_198576.4(AGRN):c.939C>G (p.Phe313Leu)
NM_198576.4(AGRN):c.940G>A (p.Asp314Asn) rs756357739
NM_198576.4(AGRN):c.946C>T (p.Pro316Ser)
NM_198576.4(AGRN):c.947C>T (p.Pro316Leu)
NM_198576.4(AGRN):c.94C>T (p.Pro32Ser) rs1570124541
NM_198576.4(AGRN):c.952+6C>A rs980423212
NM_198576.4(AGRN):c.952+6C>T rs980423212
NM_198576.4(AGRN):c.953-3C>T
NM_198576.4(AGRN):c.956C>T (p.Pro319Leu) rs1570194895
NM_198576.4(AGRN):c.95C>G (p.Pro32Arg)
NM_198576.4(AGRN):c.962A>G (p.Gln321Arg)
NM_198576.4(AGRN):c.979C>T (p.Pro327Ser)
NM_198576.4(AGRN):c.97G>A (p.Glu33Lys) rs1000275884
NM_198576.4(AGRN):c.980C>G (p.Pro327Arg) rs774941993
NM_198576.4(AGRN):c.995G>A (p.Arg332His) rs762223640
Single allele

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