ClinVar Miner

List of variants studied for bone remodeling disease by Invitae

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3351
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HGVS dbSNP gnomAD frequency
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_003900.5(SQSTM1):c.876C>T (p.Asp292=) rs4935 0.62369
NM_003900.5(SQSTM1):c.936G>A (p.Arg312=) rs4797 0.53290
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_000127.3(EXT1):c.1761G>A (p.Glu587=) rs7837891 0.36094
NM_031471.6(FERMT3):c.787-10C>A rs11603538 0.33480
NM_207122.2(EXT2):c.1080-18T>A rs11037882 0.26140
NM_207122.2(EXT2):c.1807-51T>C rs11037909 0.25427
NM_207122.2(EXT2):c.1936-41T>C rs3740878 0.23855
NM_000127.3(EXT1):c.1065C>T (p.Cys355=) rs11546829 0.23625
NM_000127.3(EXT1):c.1431C>T (p.Pro477=) rs17439693 0.17547
NM_031471.6(FERMT3):c.1506C>T (p.Leu502=) rs3802933 0.17484
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_031471.6(FERMT3):c.161-16C>G rs78038516 0.10980
NM_031471.6(FERMT3):c.1449G>A (p.Pro483=) rs3802932 0.09305
NM_031471.6(FERMT3):c.729C>T (p.Ala243=) rs17851033 0.05878
NM_031471.6(FERMT3):c.895-4C>T rs59250939 0.05738
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_003900.5(SQSTM1):c.954C>T (p.Ser318=) rs56092424 0.03763
NM_003900.5(SQSTM1):c.1044G>A (p.Pro348=) rs10058037 0.03284
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_003900.5(SQSTM1):c.906C>T (p.Gly302=) rs11548642 0.01636
NM_000127.3(EXT1):c.114A>G (p.Glu38=) rs17506447 0.01623
NM_003900.5(SQSTM1):c.822G>C (p.Glu274Asp) rs55793208 0.01529
NM_207122.2(EXT2):c.124A>G (p.Met42Val) rs4755779 0.01478
NM_003900.5(SQSTM1):c.955G>A (p.Glu319Lys) rs61748794 0.01418
NM_031471.6(FERMT3):c.1320G>A (p.Gln440=) rs76744324 0.01379
NM_207122.2(EXT2):c.264C>T (p.His88=) rs35455466 0.01345
NM_207122.2(EXT2):c.1761G>A (p.Thr587=) rs16937864 0.01303
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_207122.2(EXT2):c.999T>C (p.Asp333=) rs61733300 0.01271
NM_207122.2(EXT2):c.1174-18G>T rs143595300 0.01161
NM_003900.5(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523 0.00943
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_207122.2(EXT2):c.1017T>C (p.Cys339=) rs11828047 0.00930
NM_031471.6(FERMT3):c.405C>T (p.His135=) rs78810429 0.00926
NM_031471.6(FERMT3):c.1030-12G>C rs77762249 0.00871
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_031471.6(FERMT3):c.130G>A (p.Gly44Arg) rs149000560 0.00578
NM_000127.3(EXT1):c.117A>G (p.Glu39=) rs78429222 0.00558
NM_207122.2(EXT2):c.1110G>T (p.Met370Ile) rs34084767 0.00538
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_031471.6(FERMT3):c.1917G>A (p.Thr639=) rs150686744 0.00396
NM_031471.6(FERMT3):c.684-5C>G rs112945490 0.00390
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_207122.2(EXT2):c.*56G>A rs77554103 0.00371
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) rs114920029 0.00361
NM_002334.4(LRP4):c.2506+18G>A rs148998354 0.00327
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) rs150253578 0.00314
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_003900.5(SQSTM1):c.755-90dup rs145727617 0.00280
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys) rs61748876 0.00246
NM_031471.6(FERMT3):c.249C>T (p.Tyr83=) rs137865691 0.00245
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu) rs11548633 0.00229
NM_031471.6(FERMT3):c.159C>G (p.Ile53Met) rs142815441 0.00225
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro) rs143956614 0.00222
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_002334.4(LRP4):c.1048+7G>T rs148557097 0.00220
NM_002334.4(LRP4):c.1787A>G (p.His596Arg) rs138878258 0.00211
NM_031471.6(FERMT3):c.1404C>T (p.Ala468=) rs201501349 0.00188
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_002334.4(LRP4):c.1915+6C>T rs184555624 0.00175
NM_207122.2(EXT2):c.2019-14T>C rs141747687 0.00173
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_031471.6(FERMT3):c.161-11G>A rs188768294 0.00143
NM_207122.2(EXT2):c.918C>T (p.Phe306=) rs35436405 0.00139
NM_031471.6(FERMT3):c.1523A>C (p.Gln508Pro) rs138031026 0.00137
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00124
NM_031471.6(FERMT3):c.921C>T (p.Ser307=) rs78713523 0.00116
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_031471.6(FERMT3):c.1158C>G (p.Ser386Arg) rs75295961 0.00094
NM_002334.4(LRP4):c.4951+10A>G rs371455422 0.00093
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_207122.2(EXT2):c.1641C>T (p.Asp547=) rs75987184 0.00088
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_031471.6(FERMT3):c.607C>T (p.Pro203Ser) rs143873934 0.00086
NM_002334.4(LRP4):c.257G>A (p.Arg86His) rs138239756 0.00083
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00079
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_002334.4(LRP4):c.141C>G (p.Ala47=) rs543418199 0.00076
NM_002334.4(LRP4):c.2868G>A (p.Glu956=) rs145460760 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_031471.6(FERMT3):c.394+12G>A rs375841962 0.00076
NM_207122.2(EXT2):c.965G>A (p.Arg322His) rs149727518 0.00076
NM_002334.4(LRP4):c.5520T>C (p.His1840=) rs144350829 0.00075
NM_003900.5(SQSTM1):c.888G>A (p.Pro296=) rs148984239 0.00073
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_207122.2(EXT2):c.358G>A (p.Val120Ile) rs115948531 0.00070
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_000127.3(EXT1):c.1359C>T (p.Phe453=) rs148922894 0.00067
NM_000127.3(EXT1):c.741G>A (p.Glu247=) rs148473091 0.00063
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val) rs147688807 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met) rs138495222 0.00063
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=) rs144639401 0.00060
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00058
NM_207122.2(EXT2):c.1005A>G (p.Leu335=) rs141977888 0.00058
NM_003900.5(SQSTM1):c.1245G>A (p.Arg415=) rs148278350 0.00057
NM_031471.6(FERMT3):c.1692C>T (p.Asp564=) rs200243967 0.00057
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_003900.5(SQSTM1):c.969+20G>A rs199696608 0.00054
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_031471.6(FERMT3):c.565G>A (p.Ala189Thr) rs200176196 0.00054
NM_031471.6(FERMT3):c.930G>C (p.Val310=) rs199508330 0.00054
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_002334.4(LRP4):c.676+13G>A rs200963011 0.00052
NM_003900.5(SQSTM1):c.1176G>A (p.Pro392=) rs75700262 0.00052
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_003900.5(SQSTM1):c.372C>T (p.Pro124=) rs11548640 0.00046
NM_207122.2(EXT2):c.1087G>A (p.Val363Met) rs138943091 0.00046
NM_002334.4(LRP4):c.5182A>G (p.Ile1728Val) rs148865136 0.00045
NM_207122.2(EXT2):c.1022C>T (p.Pro341Leu) rs141035971 0.00044
NM_002334.4(LRP4):c.3407G>A (p.Arg1136Gln) rs61736853 0.00042
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu) rs150681693 0.00042
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
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_031471.6(FERMT3):c.1546-6C>T rs200208378 0.00041
NM_031471.6(FERMT3):c.206A>C (p.Lys69Thr) rs146932041 0.00041
NM_031471.6(FERMT3):c.515-5T>A rs371192713 0.00041
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534 0.00039
NM_002334.4(LRP4):c.4936C>T (p.Arg1646Trp) rs141213903 0.00038
NM_002334.4(LRP4):c.1832G>A (p.Arg611His) rs140282454 0.00036
NM_003900.5(SQSTM1):c.1278G>A (p.Ala426=) rs143977783 0.00036
NM_031471.6(FERMT3):c.608C>T (p.Pro203Leu) rs78534353 0.00036
NM_207122.2(EXT2):c.744-10T>G rs200943294 0.00036
NM_207122.2(EXT2):c.150C>T (p.Ile50=) rs138982530 0.00035
NM_003900.5(SQSTM1):c.328C>T (p.Arg110Cys) rs139372286 0.00034
NM_003900.5(SQSTM1):c.783C>T (p.His261=) rs145001811 0.00034
NM_031471.6(FERMT3):c.56G>A (p.Arg19Gln) rs150500299 0.00034
NM_031471.6(FERMT3):c.683+18G>A rs369707009 0.00033
NM_002334.4(LRP4):c.3004+19G>T rs376749778 0.00031
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=) rs144169411 0.00031
NM_207122.2(EXT2):c.1912G>A (p.Val638Ile) rs145024832 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00030
NM_003900.5(SQSTM1):c.946T>C (p.Leu316=) rs140315612 0.00030
NM_003900.5(SQSTM1):c.457G>A (p.Val153Ile) rs145056421 0.00029
NM_207122.2(EXT2):c.1806+11G>A rs372517964 0.00029
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile) rs113846849 0.00029
NM_000127.3(EXT1):c.99C>T (p.Ser33=) rs147654656 0.00028
NM_207122.2(EXT2):c.1425A>G (p.Glu475=) rs533065326 0.00027
NM_207122.2(EXT2):c.843A>G (p.Leu281=) rs111320923 0.00027
NM_003900.5(SQSTM1):c.819A>G (p.Pro273=) rs200388590 0.00026
NM_003900.5(SQSTM1):c.908C>T (p.Ala303Val) rs143746604 0.00026
NM_002334.4(LRP4):c.273C>T (p.Asp91=) rs150401820 0.00025
NM_002334.4(LRP4):c.505G>A (p.Gly169Ser) rs201585639 0.00025
NM_031471.6(FERMT3):c.938C>T (p.Pro313Leu) rs141200776 0.00025
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00025
NM_207122.2(EXT2):c.939+19C>G rs370017441 0.00025
NM_000127.3(EXT1):c.1066G>A (p.Val356Ile) rs61753260 0.00024
NM_002334.4(LRP4):c.1059G>A (p.Thr353=) rs144710408 0.00024
NM_002334.4(LRP4):c.1130A>G (p.Gln377Arg) rs139006210 0.00024
NM_207122.2(EXT2):c.444C>T (p.Asn148=) rs145884580 0.00024
NM_003900.5(SQSTM1):c.674-17C>T rs372845160 0.00023
NM_031471.6(FERMT3):c.894+10G>A rs112542691 0.00023
NM_207122.2(EXT2):c.1080-16T>G rs377582390 0.00023
NM_002334.4(LRP4):c.378G>A (p.Leu126=) rs201749120 0.00022
NM_031471.6(FERMT3):c.161-6C>T rs114338405 0.00022
NM_031471.6(FERMT3):c.320G>A (p.Arg107His) rs138704967 0.00022
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile) rs567445428 0.00022
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=) rs144335505 0.00021
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=) rs150734530 0.00021
NM_003900.5(SQSTM1):c.1201A>C (p.Met401Leu) rs201795943 0.00021
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys) rs373582542 0.00021
NM_002334.4(LRP4):c.1491C>T (p.Leu497=) rs146501212 0.00020
NM_002334.4(LRP4):c.3752C>T (p.Pro1251Leu) rs145422541 0.00020
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537 0.00020
NM_207122.2(EXT2):c.896G>A (p.Arg299His) rs76901081 0.00020
NM_000127.3(EXT1):c.1319G>A (p.Arg440His) rs144550328 0.00019
NM_002334.4(LRP4):c.539A>G (p.Glu180Gly) rs201957426 0.00019
NM_003900.5(SQSTM1):c.513C>G (p.Pro171=) rs199931327 0.00019
NM_031471.6(FERMT3):c.1430G>A (p.Arg477His) rs199749996 0.00019
NM_031471.6(FERMT3):c.303C>T (p.Ile101=) rs375277199 0.00019
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr) rs201253200 0.00018
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=) rs140010759 0.00018
NM_003900.5(SQSTM1):c.1038G>A (p.Val346=) rs150470670 0.00018
NM_003900.5(SQSTM1):c.934A>G (p.Arg312Gly) rs545080321 0.00018
NM_207122.2(EXT2):c.1554G>A (p.Lys518=) rs144238557 0.00018
NM_002334.4(LRP4):c.1310-9G>C rs200509094 0.00017
NM_002334.4(LRP4):c.2992C>T (p.Arg998Cys) rs61749460 0.00017
NM_031471.6(FERMT3):c.161-12C>T rs372152105 0.00017
NM_000127.3(EXT1):c.909C>G (p.Asp303Glu) rs1176457130 0.00016
NM_002334.4(LRP4):c.695G>A (p.Arg232His) rs370407081 0.00016
NM_031471.6(FERMT3):c.1393G>A (p.Glu465Lys) rs373999037 0.00016
NM_031471.6(FERMT3):c.268C>T (p.Arg90Cys) rs373315115 0.00016
NM_000127.3(EXT1):c.1612G>A (p.Val538Ile) rs767492816 0.00015
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=) rs137882536 0.00015
NM_002334.4(LRP4):c.636C>T (p.Gly212=) rs17848239 0.00015
NM_003900.5(SQSTM1):c.352C>T (p.Pro118Ser) rs200152247 0.00015
NM_031471.6(FERMT3):c.635G>A (p.Arg212His) rs200467635 0.00015
NM_000127.3(EXT1):c.1749G>C (p.Gln583His) rs575895733 0.00014
NM_002334.4(LRP4):c.1700C>T (p.Thr567Ile) rs143885233 0.00014
NM_002334.4(LRP4):c.4584-4G>A rs368518969 0.00014
NM_002334.4(LRP4):c.4584-5C>T rs183295145 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_003900.5(SQSTM1):c.214G>A (p.Gly72Arg) rs376802604 0.00014
NM_031471.6(FERMT3):c.1237G>A (p.Gly413Ser) rs150164798 0.00014
NM_031471.6(FERMT3):c.1251C>T (p.Cys417=) rs374519761 0.00014
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val) rs199564714 0.00014
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys) rs146098187 0.00014
NM_002334.4(LRP4):c.1769G>A (p.Arg590His) rs149435615 0.00013
NM_031471.6(FERMT3):c.1400A>G (p.Gln467Arg) rs758346041 0.00013
NM_031471.6(FERMT3):c.1828G>A (p.Asp610Asn) rs201257852 0.00013
NM_031471.6(FERMT3):c.885C>T (p.Ala295=) rs374379186 0.00013
NM_031471.6(FERMT3):c.922G>A (p.Gly308Arg) rs748770309 0.00013
NM_000127.3(EXT1):c.124G>A (p.Gly42Ser) rs368382074 0.00012
NM_002334.4(LRP4):c.2436T>C (p.Asp812=) rs201159730 0.00012
NM_002334.4(LRP4):c.447C>T (p.Ser149=) rs763246909 0.00012
NM_003900.5(SQSTM1):c.1277C>T (p.Ala426Val) rs201239306 0.00012
NM_003900.5(SQSTM1):c.912G>A (p.Thr304=) rs370970067 0.00012
NM_002334.4(LRP4):c.2763C>T (p.Asp921=) rs532977473 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.5178C>T (p.Tyr1726=) rs372105627 0.00011
NM_002334.4(LRP4):c.788G>A (p.Arg263His) rs149906323 0.00011
NM_003900.5(SQSTM1):c.1272C>T (p.Ile424=) rs374985304 0.00011
NM_031471.6(FERMT3):c.269G>A (p.Arg90His) rs552829558 0.00011
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786 0.00011
NM_000127.3(EXT1):c.1430C>G (p.Pro477Arg) rs145720047 0.00010
NM_000127.3(EXT1):c.1680C>T (p.Ala560=) rs540101738 0.00010
NM_002334.4(LRP4):c.1432C>T (p.Arg478Cys) rs146660159 0.00010
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=) rs150616375 0.00010
NM_002334.4(LRP4):c.3980G>A (p.Arg1327Gln) rs146372809 0.00010
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=) rs143496445 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_003900.5(SQSTM1):c.1083C>T (p.Ser361=) rs201591177 0.00010
NM_003900.5(SQSTM1):c.755-8G>A rs369581639 0.00010
NM_003900.5(SQSTM1):c.85C>T (p.Pro29Ser) rs752506754 0.00010
NM_031471.6(FERMT3):c.1221C>T (p.Pro407=) rs370181430 0.00010
NM_031471.6(FERMT3):c.5C>T (p.Ala2Val) rs551546723 0.00010
NM_207122.2(EXT2):c.1916C>T (p.Thr639Met) rs138722406 0.00010
NM_000127.3(EXT1):c.1117A>G (p.Asn373Asp) rs142122090 0.00009
NM_000127.3(EXT1):c.122G>A (p.Ser41Asn) rs199862937 0.00009
NM_000127.3(EXT1):c.1674A>G (p.Thr558=) rs202051061 0.00009
NM_000127.3(EXT1):c.963-16C>T rs369462786 0.00009
NM_002334.4(LRP4):c.1153C>T (p.Arg385Trp) rs200623154 0.00009
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=) rs61748895 0.00009
NM_002334.4(LRP4):c.2092+17C>T rs200761003 0.00009
NM_002334.4(LRP4):c.2112C>T (p.Asp704=) rs140757594 0.00009
NM_002334.4(LRP4):c.2216-14C>T rs369714698 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.3537-13C>A rs752687926 0.00009
NM_002334.4(LRP4):c.426G>A (p.Gln142=) rs371955690 0.00009
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=) rs376909913 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_003900.5(SQSTM1):c.171G>C (p.Ala57=) rs773605598 0.00009
NM_003900.5(SQSTM1):c.351G>A (p.Ala117=) rs376214713 0.00009
NM_003900.5(SQSTM1):c.824G>A (p.Ser275Asn) rs201923000 0.00009
NM_031471.6(FERMT3):c.1029+14C>T rs201218236 0.00009
NM_031471.6(FERMT3):c.1647C>T (p.Phe549=) rs370038112 0.00009
NM_031471.6(FERMT3):c.308G>A (p.Arg103Gln) rs1430138108 0.00009
NM_031471.6(FERMT3):c.786+10G>T rs371382691 0.00009
NM_031471.6(FERMT3):c.786+7C>T rs373211697 0.00009
NM_031471.6(FERMT3):c.86C>T (p.Ala29Val) rs144256756 0.00009
NM_207122.2(EXT2):c.283C>T (p.Arg95Cys) rs376292686 0.00009
NM_000127.3(EXT1):c.1457C>T (p.Ala486Val) rs188859975 0.00008
NM_002334.4(LRP4):c.2476G>A (p.Val826Ile) rs142660660 0.00008
NM_002334.4(LRP4):c.282C>T (p.Asn94=) rs17848224 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_003900.5(SQSTM1):c.332C>T (p.Pro111Leu) rs371719657 0.00008
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr) rs146086025 0.00008
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln) rs140561784 0.00008
NM_207122.2(EXT2):c.744-6T>A rs755926713 0.00008
NM_000127.3(EXT1):c.1161A>G (p.Leu387=) rs200256697 0.00007
NM_000127.3(EXT1):c.1609G>A (p.Val537Ile) rs144397063 0.00007
NM_000127.3(EXT1):c.748T>A (p.Phe250Ile) rs920291906 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_002334.4(LRP4):c.660A>G (p.Ser220=) rs200129866 0.00007
NM_003900.5(SQSTM1):c.800G>A (p.Arg267His) rs149424705 0.00007
NM_031471.6(FERMT3):c.1014G>A (p.Ala338=) rs774290819 0.00007
NM_031471.6(FERMT3):c.1516C>A (p.Arg506Ser) rs184091587 0.00007
NM_031471.6(FERMT3):c.644G>A (p.Arg215Gln) rs542357552 0.00007
NM_031471.6(FERMT3):c.787-7G>A rs778795486 0.00007
NM_207122.2(EXT2):c.605C>T (p.Ala202Val) rs771803942 0.00007
NM_000127.3(EXT1):c.1652T>A (p.Leu551Gln) rs745890180 0.00006
NM_000127.3(EXT1):c.1659C>T (p.Tyr553=) rs757115396 0.00006
NM_000127.3(EXT1):c.214G>A (p.Glu72Lys) rs150818931 0.00006
NM_000127.3(EXT1):c.25A>T (p.Ile9Phe) rs772883826 0.00006
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser) rs750116273 0.00006
NM_002334.4(LRP4):c.1023C>T (p.Ser341=) rs200097836 0.00006
NM_002334.4(LRP4):c.1048+20G>A rs199512829 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.1584C>T (p.Thr528=) rs574108233 0.00006
NM_002334.4(LRP4):c.177C>T (p.Asp59=) rs373625784 0.00006
NM_002334.4(LRP4):c.2318G>A (p.Arg773His) rs374890595 0.00006
NM_002334.4(LRP4):c.3756G>A (p.Val1252=) rs75923112 0.00006
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=) rs201016203 0.00006
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val) rs779526693 0.00006
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=) rs17848229 0.00006
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=) rs372569948 0.00006
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=) rs753496184 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.612C>T (p.Ile204=) rs757902891 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_003900.5(SQSTM1):c.1088G>A (p.Gly363Glu) rs375495050 0.00006
NM_003900.5(SQSTM1):c.1231G>A (p.Gly411Ser) rs143511494 0.00006
NM_003900.5(SQSTM1):c.1316C>T (p.Pro439Leu) rs199854262 0.00006
NM_003900.5(SQSTM1):c.205+7G>C rs912066047 0.00006
NM_003900.5(SQSTM1):c.374A>G (p.Asn125Ser) rs769325755 0.00006
NM_003900.5(SQSTM1):c.378G>A (p.Val126=) rs774780830 0.00006
NM_003900.5(SQSTM1):c.53G>A (p.Arg18His) rs902195752 0.00006
NM_003900.5(SQSTM1):c.625C>T (p.Arg209Cys) rs1478180381 0.00006
NM_003900.5(SQSTM1):c.696G>A (p.Pro232=) rs145688323 0.00006
NM_003900.5(SQSTM1):c.811G>A (p.Val271Ile) rs376283809 0.00006
NM_003900.5(SQSTM1):c.962G>A (p.Arg321His) rs752889531 0.00006
NM_031471.6(FERMT3):c.1205-16C>T rs537958912 0.00006
NM_031471.6(FERMT3):c.1434G>A (p.Thr478=) rs368102589 0.00006
NM_031471.6(FERMT3):c.1464C>T (p.His488=) rs200660798 0.00006
NM_031471.6(FERMT3):c.1545+12C>T rs748289124 0.00006
NM_031471.6(FERMT3):c.1545+13G>A rs536991493 0.00006
NM_031471.6(FERMT3):c.1546-12A>G rs766045189 0.00006
NM_031471.6(FERMT3):c.298G>A (p.Val100Ile) rs145048660 0.00006
NM_031471.6(FERMT3):c.307C>T (p.Arg103Trp) rs572874105 0.00006
NM_031471.6(FERMT3):c.315C>G (p.Pro105=) rs367568281 0.00006
NM_031471.6(FERMT3):c.642A>G (p.Pro214=) rs375528370 0.00006
NM_031471.6(FERMT3):c.93G>A (p.Ser31=) rs753418361 0.00006
NM_031471.6(FERMT3):c.963C>T (p.Asp321=) rs370133642 0.00006
NM_207122.2(EXT2):c.1249C>T (p.Arg417Trp) rs540229057 0.00006
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln) rs141256266 0.00006
NM_207122.2(EXT2):c.182G>A (p.Arg61His) rs151228794 0.00006
NM_207122.2(EXT2):c.201G>A (p.Pro67=) rs201374853 0.00006
NM_207122.2(EXT2):c.2053G>A (p.Gly685Arg) rs367897723 0.00006
NM_207122.2(EXT2):c.357C>T (p.Gly119=) rs753325648 0.00006
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn) rs200631641 0.00006
NM_000127.3(EXT1):c.1722+9C>T rs371055794 0.00005
NM_000127.3(EXT1):c.2062C>T (p.Arg688Trp) rs138855109 0.00005
NM_000127.3(EXT1):c.2178C>T (p.Pro726=) rs557560039 0.00005
NM_000127.3(EXT1):c.543C>T (p.Leu181=) rs375583188 0.00005
NM_002334.4(LRP4):c.1285G>A (p.Asp429Asn) rs770279192 0.00005
NM_002334.4(LRP4):c.1437C>T (p.Arg479=) rs141108617 0.00005
NM_002334.4(LRP4):c.1779C>T (p.Ala593=) rs202063944 0.00005
NM_002334.4(LRP4):c.299C>T (p.Ser100Leu) rs762837686 0.00005
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=) rs148361325 0.00005
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=) rs779045515 0.00005
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=) rs752801557 0.00005
NM_002334.4(LRP4):c.4584-15T>C rs777314555 0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu) rs146362081 0.00005
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=) rs200514161 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_002334.4(LRP4):c.922+13G>A rs771013783 0.00005
NM_003900.5(SQSTM1):c.1165+9A>G rs138885571 0.00005
NM_003900.5(SQSTM1):c.295A>C (p.Ile99Leu) rs537142935 0.00005
NM_003900.5(SQSTM1):c.673+10G>C rs753023157 0.00005
NM_003900.5(SQSTM1):c.683C>T (p.Pro228Leu) rs151191977 0.00005
NM_003900.5(SQSTM1):c.901G>C (p.Glu301Gln) rs1258386028 0.00005
NM_003900.5(SQSTM1):c.986A>G (p.Asp329Gly) rs148294622 0.00005
NM_031471.6(FERMT3):c.1030-3T>C rs772852769 0.00005
NM_031471.6(FERMT3):c.1375G>A (p.Asp459Asn) rs374091426 0.00005
NM_031471.6(FERMT3):c.1884C>T (p.His628=) rs747261674 0.00005
NM_031471.6(FERMT3):c.325G>A (p.Ala109Thr) rs765368032 0.00005
NM_031471.6(FERMT3):c.432T>G (p.Ala144=) rs752383968 0.00005
NM_207122.2(EXT2):c.1185C>G (p.Phe395Leu) rs776907891 0.00005
NM_207122.2(EXT2):c.1341G>A (p.Pro447=) rs774039598 0.00005
NM_207122.2(EXT2):c.1487C>T (p.Pro496Leu) rs772530256 0.00005
NM_207122.2(EXT2):c.284G>A (p.Arg95His) rs143703574 0.00005
NM_207122.2(EXT2):c.445C>T (p.Arg149Trp) rs757297287 0.00005
NM_207122.2(EXT2):c.588C>T (p.Pro196=) rs200009614 0.00005
NM_207122.2(EXT2):c.698A>G (p.Tyr233Cys) rs146316660 0.00005
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln) rs770821909 0.00005
NM_207122.2(EXT2):c.8C>T (p.Ala3Val) rs201185639 0.00005
NM_000127.3(EXT1):c.1695C>T (p.Asp565=) rs762218262 0.00004
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779 0.00004
NM_000127.3(EXT1):c.591C>T (p.Ser197=) rs770795716 0.00004
NM_000127.3(EXT1):c.609C>T (p.Tyr203=) rs886042484 0.00004
NM_002334.4(LRP4):c.1054C>T (p.Arg352Trp) rs148456240 0.00004
NM_002334.4(LRP4):c.1086C>T (p.Asn362=) rs556905132 0.00004
NM_002334.4(LRP4):c.1087G>A (p.Gly363Ser) rs765602909 0.00004
NM_002334.4(LRP4):c.1308G>A (p.Leu436=) rs750627555 0.00004
NM_002334.4(LRP4):c.1309+6G>T rs532952316 0.00004
NM_002334.4(LRP4):c.132C>T (p.Cys44=) rs760552036 0.00004
NM_002334.4(LRP4):c.1481G>A (p.Arg494His) rs777801967 0.00004
NM_002334.4(LRP4):c.1668C>T (p.Pro556=) rs766741394 0.00004
NM_002334.4(LRP4):c.1932C>T (p.Phe644=) rs1011484252 0.00004
NM_002334.4(LRP4):c.2080C>T (p.Arg694Cys) rs1323412236 0.00004
NM_002334.4(LRP4):c.2093-16T>C rs751168409 0.00004
NM_002334.4(LRP4):c.2202C>T (p.His734=) rs757999800 0.00004
NM_002334.4(LRP4):c.2358C>T (p.His786=) rs371677748 0.00004
NM_002334.4(LRP4):c.2535A>C (p.Thr845=) rs145557677 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.2766C>T (p.Ala922=) rs773599397 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.3459G>A (p.Leu1153=) rs768821263 0.00004
NM_002334.4(LRP4):c.3581G>A (p.Arg1194Gln) rs369916883 0.00004
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=) rs185084650 0.00004
NM_002334.4(LRP4):c.4665T>C (p.His1555=) rs145206396 0.00004
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=) rs780329570 0.00004
NM_002334.4(LRP4):c.5088-20C>T rs370004451 0.00004
NM_002334.4(LRP4):c.53-7C>T rs745407997 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.5586G>A (p.Thr1862=) rs751494811 0.00004
NM_002334.4(LRP4):c.761C>T (p.Ala254Val) rs767281769 0.00004
NM_002334.4(LRP4):c.933A>G (p.Gln311=) rs375108263 0.00004
NM_003900.5(SQSTM1):c.1178G>A (p.Arg393Gln) rs200551825 0.00004
NM_003900.5(SQSTM1):c.122C>T (p.Pro41Leu) rs745356508 0.00004
NM_003900.5(SQSTM1):c.1314G>A (p.Pro438=) rs182058393 0.00004
NM_003900.5(SQSTM1):c.251C>T (p.Thr84Ile) rs539682696 0.00004
NM_003900.5(SQSTM1):c.399G>C (p.Gly133=) rs768110162 0.00004
NM_003900.5(SQSTM1):c.456C>T (p.Ser152=) rs145037913 0.00004
NM_003900.5(SQSTM1):c.50C>T (p.Ala17Val) rs141502868 0.00004
NM_003900.5(SQSTM1):c.540G>A (p.Ser180=) rs370203737 0.00004
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His) rs535606152 0.00004
NM_003900.5(SQSTM1):c.570C>T (p.His190=) rs758110159 0.00004
NM_003900.5(SQSTM1):c.650G>A (p.Arg217His) rs761822261 0.00004
NM_003900.5(SQSTM1):c.674C>T (p.Ala225Val) rs202235745 0.00004
NM_003900.5(SQSTM1):c.687G>A (p.Ser229=) rs140341924 0.00004
NM_003900.5(SQSTM1):c.719T>C (p.Val240Ala) rs142719499 0.00004
NM_003900.5(SQSTM1):c.789G>A (p.Gly263=) rs200889080 0.00004
NM_003900.5(SQSTM1):c.911C>T (p.Thr304Met) rs150926394 0.00004
NM_003900.5(SQSTM1):c.942C>T (p.Ile314=) rs200695664 0.00004
NM_031471.6(FERMT3):c.120G>A (p.Ser40=) rs770220477 0.00004
NM_031471.6(FERMT3):c.126C>T (p.Ile42=) rs145854519 0.00004
NM_031471.6(FERMT3):c.129C>T (p.Gly43=) rs772711731 0.00004
NM_031471.6(FERMT3):c.1312-6G>A rs751923843 0.00004
NM_031471.6(FERMT3):c.1312-7C>T rs368719526 0.00004
NM_031471.6(FERMT3):c.1465G>A (p.Gly489Ser) rs373722020 0.00004
NM_031471.6(FERMT3):c.1472A>C (p.Asp491Ala) rs142686129 0.00004
NM_031471.6(FERMT3):c.1503C>T (p.Gly501=) rs368698573 0.00004
NM_031471.6(FERMT3):c.160+10C>T rs577691940 0.00004
NM_031471.6(FERMT3):c.1671-14T>C rs201170855 0.00004
NM_031471.6(FERMT3):c.1722G>C (p.Leu574=) rs769738360 0.00004
NM_031471.6(FERMT3):c.483C>T (p.Leu161=) rs781259522 0.00004
NM_031471.6(FERMT3):c.735C>T (p.Asp245=) rs376170241 0.00004
NM_031471.6(FERMT3):c.795C>T (p.Pro265=) rs578201604 0.00004
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00004
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys) rs781283626 0.00004
NM_207122.2(EXT2):c.1495+9C>G rs768311130 0.00004
NM_207122.2(EXT2):c.1663-16A>G rs201032203 0.00004
NM_207122.2(EXT2):c.1704T>A (p.Gly568=) rs145878394 0.00004
NM_207122.2(EXT2):c.1806+10C>T rs200520590 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371 0.00004
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg) rs200032672 0.00004
NM_207122.2(EXT2):c.849C>T (p.Leu283=) rs749093709 0.00004
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn) rs549810739 0.00004
NM_207122.2(EXT2):c.940-18C>G rs375536301 0.00004
NM_207122.2(EXT2):c.94A>G (p.Ile32Val) rs769478020 0.00004
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp) rs145611597 0.00004
NM_207122.2(EXT2):c.995G>A (p.Ser332Asn) rs148493676 0.00004
NM_207122.2(EXT2):c.996C>T (p.Ser332=) rs142692757 0.00004
NM_000127.3(EXT1):c.1135G>A (p.Val379Ile) rs371233961 0.00003
NM_000127.3(EXT1):c.1143C>T (p.Gly381=) rs376640197 0.00003
NM_000127.3(EXT1):c.1239G>T (p.Glu413Asp) rs756701753 0.00003
NM_000127.3(EXT1):c.1259A>G (p.Glu420Gly) rs147847222 0.00003
NM_000127.3(EXT1):c.1285-9A>G rs761040629 0.00003
NM_000127.3(EXT1):c.1293G>A (p.Gln431=) rs773449892 0.00003
NM_000127.3(EXT1):c.1305C>A (p.Phe435Leu) rs183760697 0.00003
NM_000127.3(EXT1):c.1503C>G (p.Leu501=) rs146108006 0.00003
NM_000127.3(EXT1):c.1781C>G (p.Ala594Gly) rs374887549 0.00003
NM_000127.3(EXT1):c.1899A>G (p.Leu633=) rs368191286 0.00003
NM_002334.4(LRP4):c.1048C>T (p.Arg350Trp) rs368744612 0.00003
NM_002334.4(LRP4):c.1284C>T (p.Pro428=) rs374136996 0.00003
NM_002334.4(LRP4):c.1342A>G (p.Ile448Val) rs761341366 0.00003
NM_002334.4(LRP4):c.1368C>T (p.His456=) rs570223328 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.3136+10A>G rs377543577 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.3462C>T (p.Asp1154=) rs570258125 0.00003
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=) rs377557349 0.00003
NM_002334.4(LRP4):c.3599C>T (p.Ser1200Leu) rs749792822 0.00003
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=) rs751449110 0.00003
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=) rs952249452 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 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.501C>T (p.Cys167=) rs369739623 0.00003
NM_002334.4(LRP4):c.504C>T (p.Asp168=) rs749048211 0.00003
NM_002334.4(LRP4):c.5138C>T (p.Ala1713Val) rs1035754612 0.00003
NM_002334.4(LRP4):c.5385+13A>G rs370288647 0.00003
NM_002334.4(LRP4):c.768T>C (p.Cys256=) rs774343834 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_003900.5(SQSTM1):c.1104C>T (p.Asp368=) rs750140541 0.00003
NM_003900.5(SQSTM1):c.1166-5G>A rs765613974 0.00003
NM_003900.5(SQSTM1):c.1313C>T (p.Pro438Leu) rs759646319 0.00003
NM_003900.5(SQSTM1):c.301+12C>G rs141530539 0.00003
NM_003900.5(SQSTM1):c.335C>T (p.Pro112Leu) rs761423892 0.00003
NM_003900.5(SQSTM1):c.416G>A (p.Arg139His) rs758090054 0.00003
NM_003900.5(SQSTM1):c.430G>A (p.Val144Ile) rs200973006 0.00003
NM_003900.5(SQSTM1):c.498C>T (p.Leu166=) rs372518286 0.00003
NM_003900.5(SQSTM1):c.571G>A (p.Gly191Arg) rs781478225 0.00003
NM_003900.5(SQSTM1):c.755-10C>T rs763522925 0.00003
NM_003900.5(SQSTM1):c.772G>A (p.Asp258Asn) rs774986849 0.00003
NM_003900.5(SQSTM1):c.799C>T (p.Arg267Cys) rs138928957 0.00003
NM_031471.6(FERMT3):c.1080-17C>T rs374311779 0.00003
NM_031471.6(FERMT3):c.1231G>A (p.Val411Ile) rs779562122 0.00003
NM_031471.6(FERMT3):c.1312-2A>C rs760261349 0.00003
NM_031471.6(FERMT3):c.1361G>A (p.Gly454Asp) rs371103107 0.00003
NM_031471.6(FERMT3):c.1364G>A (p.Arg455His) rs763449183 0.00003
NM_031471.6(FERMT3):c.1445G>A (p.Gly482Asp) rs773457746 0.00003
NM_031471.6(FERMT3):c.1545+5C>T rs755201201 0.00003
NM_031471.6(FERMT3):c.1708G>A (p.Ala570Thr) rs756707894 0.00003
NM_031471.6(FERMT3):c.1821C>T (p.Ile607=) rs779453227 0.00003
NM_031471.6(FERMT3):c.1983G>A (p.Glu661=) rs774698514 0.00003
NM_031471.6(FERMT3):c.324C>T (p.Arg108=) rs755053623 0.00003
NM_031471.6(FERMT3):c.37G>A (p.Asp13Asn) rs375595381 0.00003
NM_031471.6(FERMT3):c.536G>A (p.Arg179Gln) rs778967874 0.00003
NM_031471.6(FERMT3):c.616G>A (p.Asp206Asn) rs201973872 0.00003
NM_031471.6(FERMT3):c.629T>A (p.Leu210His) rs147374831 0.00003
NM_031471.6(FERMT3):c.684-8C>T rs775337789 0.00003
NM_207122.2(EXT2):c.1023G>A (p.Pro341=) rs757323768 0.00003
NM_207122.2(EXT2):c.1080-6C>T rs752180821 0.00003
NM_207122.2(EXT2):c.1194G>A (p.Ala398=) rs1011914306 0.00003
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu) rs773613001 0.00003
NM_207122.2(EXT2):c.1461C>T (p.Val487=) rs150758739 0.00003
NM_207122.2(EXT2):c.1532T>C (p.Val511Ala) rs1470381472 0.00003
NM_207122.2(EXT2):c.1564C>T (p.Arg522Cys) rs145507609 0.00003
NM_207122.2(EXT2):c.1681G>C (p.Asp561His) rs151291188 0.00003
NM_207122.2(EXT2):c.1935+11C>G rs764143899 0.00003
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053 0.00003
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln) rs771039412 0.00003
NM_207122.2(EXT2):c.425A>G (p.Tyr142Cys) rs762657738 0.00003
NM_207122.2(EXT2):c.699T>C (p.Tyr233=) rs1319747883 0.00003
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp) rs183424469 0.00003
NM_000127.3(EXT1):c.1338C>T (p.Asn446=) rs745637397 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe) rs763107867 0.00002
NM_000127.3(EXT1):c.148A>G (p.Ser50Gly) rs772811741 0.00002
NM_000127.3(EXT1):c.1509T>A (p.Ala503=) rs949806342 0.00002
NM_000127.3(EXT1):c.1608C>T (p.Val536=) rs761252195 0.00002
NM_000127.3(EXT1):c.1705G>A (p.Val569Met) rs1428345482 0.00002
NM_000127.3(EXT1):c.195C>T (p.Phe65=) rs1202105470 0.00002
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682 0.00002
NM_000127.3(EXT1):c.2106G>A (p.Gln702=) rs780640885 0.00002
NM_000127.3(EXT1):c.210A>G (p.Gln70=) rs367543871 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000127.3(EXT1):c.2171T>C (p.Leu724Pro) rs758347621 0.00002
NM_000127.3(EXT1):c.2172C>T (p.Leu724=) rs570085150 0.00002
NM_000127.3(EXT1):c.66T>C (p.Tyr22=) rs764093488 0.00002
NM_000127.3(EXT1):c.699T>C (p.Ser233=) rs370644296 0.00002
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp) rs765050783 0.00002
NM_000127.3(EXT1):c.768C>T (p.Ile256=) rs566692634 0.00002
NM_000127.3(EXT1):c.962+7G>C rs778490814 0.00002
NM_000127.3(EXT1):c.974G>A (p.Arg325Gln) rs748651137 0.00002
NM_002334.4(LRP4):c.1058C>T (p.Thr353Met) rs769661653 0.00002
NM_002334.4(LRP4):c.105A>C (p.Ala35=) rs766633369 0.00002
NM_002334.4(LRP4):c.1200C>T (p.Ala400=) rs755019127 0.00002
NM_002334.4(LRP4):c.1209G>A (p.Gly403=) rs751742961 0.00002
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=) rs373523952 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.1731C>G (p.Pro577=) rs762761020 0.00002
NM_002334.4(LRP4):c.1824C>T (p.Ala608=) rs368577516 0.00002
NM_002334.4(LRP4):c.228T>C (p.Phe76=) rs146007685 0.00002
NM_002334.4(LRP4):c.2425-20C>T rs760531886 0.00002
NM_002334.4(LRP4):c.2481C>G (p.Thr827=) rs759325895 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.2910C>T (p.Ser970=) rs754936858 0.00002
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=) rs534064794 0.00002
NM_002334.4(LRP4):c.3278-6C>T rs373579793 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.3939C>T (p.Cys1313=) rs779892727 0.00002
NM_002334.4(LRP4):c.4082G>A (p.Arg1361His) rs779038341 0.00002
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=) rs775166531 0.00002
NM_002334.4(LRP4):c.4505A>C (p.Asp1502Ala) rs200506943 0.00002
NM_002334.4(LRP4):c.471C>T (p.Asp157=) rs765171137 0.00002
NM_002334.4(LRP4):c.4762C>T (p.Arg1588Trp) rs546318025 0.00002
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=) rs369034386 0.00002
NM_002334.4(LRP4):c.5087+14A>G rs376251083 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.5330A>C (p.Lys1777Thr) rs541585714 0.00002
NM_002334.4(LRP4):c.5378A>C (p.Lys1793Thr) rs778676466 0.00002
NM_002334.4(LRP4):c.548-20C>A rs1267038625 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.585G>A (p.Glu195=) rs147714102 0.00002
NM_002334.4(LRP4):c.923-16C>A rs756847264 0.00002
NM_002334.4(LRP4):c.967C>T (p.Arg323Cys) rs772004553 0.00002
NM_003900.5(SQSTM1):c.1043C>T (p.Pro348Leu) rs772889843 0.00002
NM_003900.5(SQSTM1):c.106G>A (p.Glu36Lys) rs376158712 0.00002
NM_003900.5(SQSTM1):c.1142C>T (p.Ala381Val) rs772122047 0.00002
NM_003900.5(SQSTM1):c.1165+15A>T rs764410841 0.00002
NM_003900.5(SQSTM1):c.1166-1G>A rs529512338 0.00002
NM_003900.5(SQSTM1):c.1177C>T (p.Arg393Trp) rs539942101 0.00002
NM_003900.5(SQSTM1):c.1206G>A (p.Leu402=) rs745585269 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_003900.5(SQSTM1):c.139C>G (p.Leu47Val) rs779786150 0.00002
NM_003900.5(SQSTM1):c.154G>T (p.Ala52Ser) rs748555662 0.00002
NM_003900.5(SQSTM1):c.1A>G (p.Met1Val) rs1302810798 0.00002
NM_003900.5(SQSTM1):c.204C>G (p.Arg68=) rs1449269769 0.00002
NM_003900.5(SQSTM1):c.216G>C (p.Gly72=) rs757587948 0.00002
NM_003900.5(SQSTM1):c.234C>T (p.Ser78=) rs746426826 0.00002
NM_003900.5(SQSTM1):c.263C>T (p.Ser88Phe) rs763040103 0.00002
NM_003900.5(SQSTM1):c.268G>A (p.Val90Met) rs181263868 0.00002
NM_003900.5(SQSTM1):c.280A>G (p.Ile94Val) rs755702835 0.00002
NM_003900.5(SQSTM1):c.308A>G (p.Lys103Arg) rs748170760 0.00002
NM_003900.5(SQSTM1):c.355C>T (p.Arg119Cys) rs548787835 0.00002
NM_003900.5(SQSTM1):c.415C>T (p.Arg139Cys) rs750256905 0.00002
NM_003900.5(SQSTM1):c.481C>T (p.Arg161Trp) rs758625124 0.00002
NM_003900.5(SQSTM1):c.532-19C>T rs368559255 0.00002
NM_003900.5(SQSTM1):c.547C>T (p.Arg183Cys) rs567433223 0.00002
NM_003900.5(SQSTM1):c.562G>A (p.Val188Met) rs371832577 0.00002
NM_003900.5(SQSTM1):c.632C>G (p.Pro211Arg) rs368010261 0.00002
NM_003900.5(SQSTM1):c.717C>T (p.Asn239=) rs747314158 0.00002
NM_003900.5(SQSTM1):c.727A>T (p.Ser243Cys) rs769873457 0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val) rs762767720 0.00002
NM_003900.5(SQSTM1):c.756C>T (p.Gly252=) rs769297000 0.00002
NM_003900.5(SQSTM1):c.805A>C (p.Thr269Pro) rs745853858 0.00002
NM_003900.5(SQSTM1):c.808C>T (p.Pro270Ser) rs1194274800 0.00002
NM_003900.5(SQSTM1):c.847A>G (p.Ser283Gly) rs148559402 0.00002
NM_003900.5(SQSTM1):c.887C>T (p.Pro296Leu) rs376459756 0.00002
NM_003900.5(SQSTM1):c.907G>A (p.Ala303Thr) rs1367793899 0.00002
NM_003900.5(SQSTM1):c.943G>A (p.Ala315Thr) rs777431896 0.00002
NM_003900.5(SQSTM1):c.959G>A (p.Gly320Glu) rs747589104 0.00002
NM_003900.5(SQSTM1):c.969+19C>T rs566253151 0.00002
NM_031471.6(FERMT3):c.1269C>A (p.Pro423=) rs760064066 0.00002
NM_031471.6(FERMT3):c.1501G>A (p.Gly501Ser) rs142543888 0.00002
NM_031471.6(FERMT3):c.1546-5C>T rs368775495 0.00002
NM_031471.6(FERMT3):c.1584C>T (p.Ala528=) rs371831924 0.00002
NM_031471.6(FERMT3):c.1749C>T (p.Asp583=) rs112045200 0.00002
NM_031471.6(FERMT3):c.1808G>A (p.Arg603Gln) rs751183978 0.00002
NM_031471.6(FERMT3):c.1813-13G>A rs372936910 0.00002
NM_031471.6(FERMT3):c.1916C>T (p.Thr639Met) rs765844365 0.00002
NM_031471.6(FERMT3):c.264C>T (p.Asp88=) rs759003628 0.00002
NM_031471.6(FERMT3):c.28G>A (p.Asp10Asn) rs141640835 0.00002
NM_031471.6(FERMT3):c.386G>A (p.Arg129His) rs773077169 0.00002
NM_031471.6(FERMT3):c.421C>T (p.Leu141=) rs768084793 0.00002
NM_031471.6(FERMT3):c.481C>G (p.Leu161Val) rs900256457 0.00002
NM_031471.6(FERMT3):c.598C>T (p.Arg200Trp) rs374745942 0.00002
NM_031471.6(FERMT3):c.599G>A (p.Arg200Gln) rs775750630 0.00002
NM_031471.6(FERMT3):c.683+17C>G rs765943402 0.00002
NM_031471.6(FERMT3):c.731G>A (p.Gly244Glu) rs776202905 0.00002
NM_031471.6(FERMT3):c.75G>A (p.Glu25=) rs139520045 0.00002
NM_207122.2(EXT2):c.1043A>G (p.Tyr348Cys) rs758785296 0.00002
NM_207122.2(EXT2):c.1079+5G>A rs773025398 0.00002
NM_207122.2(EXT2):c.1109T>C (p.Met370Thr) rs199711832 0.00002
NM_207122.2(EXT2):c.11C>T (p.Ser4Leu) rs527624522 0.00002
NM_207122.2(EXT2):c.1306-7C>G rs771232346 0.00002
NM_207122.2(EXT2):c.1315A>G (p.Ser439Gly) rs760086935 0.00002
NM_207122.2(EXT2):c.1389C>T (p.Tyr463=) rs1166915261 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_207122.2(EXT2):c.1587C>T (p.Ile529=) rs765251957 0.00002
NM_207122.2(EXT2):c.1642G>A (p.Glu548Lys) rs1804679 0.00002
NM_207122.2(EXT2):c.1935G>A (p.Lys645=) rs752606551 0.00002
NM_207122.2(EXT2):c.2018+17C>T rs375554352 0.00002
NM_207122.2(EXT2):c.343G>A (p.Val115Met) rs1470293557 0.00002
NM_207122.2(EXT2):c.497G>A (p.Arg166His) rs772821141 0.00002
NM_207122.2(EXT2):c.743+10A>C rs762753229 0.00002
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys) rs117329700 0.00002
NM_207122.2(EXT2):c.890G>A (p.Arg297His) rs773482624 0.00002
NM_207122.2(EXT2):c.93C>T (p.Ser31=) rs747830835 0.00002
NM_000127.3(EXT1):c.1014T>G (p.Arg338=) rs750458103 0.00001
NM_000127.3(EXT1):c.110G>A (p.Arg37Lys) rs757411850 0.00001
NM_000127.3(EXT1):c.1164+8A>G rs765877825 0.00001
NM_000127.3(EXT1):c.123C>T (p.Ser41=) rs1186563531 0.00001
NM_000127.3(EXT1):c.1266T>A (p.Ile422=) rs899395870 0.00001
NM_000127.3(EXT1):c.1279C>G (p.Leu427Val) rs773539946 0.00001
NM_000127.3(EXT1):c.1284+19C>T rs774601928 0.00001
NM_000127.3(EXT1):c.1354T>C (p.Leu452=) rs1372000855 0.00001
NM_000127.3(EXT1):c.1403A>G (p.Tyr468Cys) rs1375505148 0.00001
NM_000127.3(EXT1):c.1406A>G (p.Tyr469Cys) rs750748090 0.00001
NM_000127.3(EXT1):c.1467C>G (p.Pro489=) rs747800473 0.00001
NM_000127.3(EXT1):c.1504G>A (p.Val502Met) rs778048374 0.00001
NM_000127.3(EXT1):c.1536+6C>T rs765347315 0.00001
NM_000127.3(EXT1):c.1545T>A (p.Val515=) rs200372337 0.00001
NM_000127.3(EXT1):c.1633-2A>G rs1233701691 0.00001
NM_000127.3(EXT1):c.1634T>G (p.Val545Gly) rs1368926188 0.00001
NM_000127.3(EXT1):c.1663A>G (p.Asn555Asp) rs777698557 0.00001
NM_000127.3(EXT1):c.1704G>A (p.Thr568=) rs146389596 0.00001
NM_000127.3(EXT1):c.1712C>T (p.Ser571Leu) rs1305323658 0.00001
NM_000127.3(EXT1):c.1740A>G (p.Thr580=) rs1340368285 0.00001
NM_000127.3(EXT1):c.1748A>G (p.Gln583Arg) rs1309175788 0.00001
NM_000127.3(EXT1):c.1758T>C (p.Pro586=) rs771063505 0.00001
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val) rs1823254644 0.00001
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp) rs146967463 0.00001
NM_000127.3(EXT1):c.1839G>A (p.Thr613=) rs765677175 0.00001
NM_000127.3(EXT1):c.1843G>A (p.Asp615Asn) rs1252579899 0.00001
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val) rs773393953 0.00001
NM_000127.3(EXT1):c.1920C>T (p.Ala640=) rs1480072354 0.00001
NM_000127.3(EXT1):c.2010C>T (p.Ile670=) rs745677100 0.00001
NM_000127.3(EXT1):c.2055+17C>T rs1295508874 0.00001
NM_000127.3(EXT1):c.2055+7A>C rs889836376 0.00001
NM_000127.3(EXT1):c.2100G>A (p.Gln700=) rs747703304 0.00001
NM_000127.3(EXT1):c.2121G>A (p.Thr707=) rs746184779 0.00001
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys) rs1373349863 0.00001
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg) rs1188494289 0.00001
NM_000127.3(EXT1):c.2199C>G (p.Val733=) rs201230140 0.00001
NM_000127.3(EXT1):c.252G>C (p.Gln84His) rs376231630 0.00001
NM_000127.3(EXT1):c.296G>T (p.Arg99Leu) rs778849200 0.00001
NM_000127.3(EXT1):c.302A>G (p.Glu101Gly) rs1384997375 0.00001
NM_000127.3(EXT1):c.303G>A (p.Glu101=) rs893833607 0.00001
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg) rs146127753 0.00001
NM_000127.3(EXT1):c.359C>T (p.Pro120Leu) rs752226935 0.00001
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg) rs773394301 0.00001
NM_000127.3(EXT1):c.405A>G (p.Leu135=) rs1401060657 0.00001
NM_000127.3(EXT1):c.419G>T (p.Gly140Val) rs769557488 0.00001
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu) rs1385688129 0.00001
NM_000127.3(EXT1):c.590C>G (p.Ser197Cys) rs776678803 0.00001
NM_000127.3(EXT1):c.686A>G (p.Asn229Ser) rs753036738 0.00001
NM_000127.3(EXT1):c.69C>T (p.Phe23=) rs200276819 0.00001
NM_000127.3(EXT1):c.973C>T (p.Arg325Trp) rs1394508840 0.00001
NM_002334.4(LRP4):c.1001T>G (p.Val334Gly) rs767110056 0.00001
NM_002334.4(LRP4):c.1049-6G>C rs775792196 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.1212T>C (p.Tyr404=) rs1941501832 0.00001
NM_002334.4(LRP4):c.1251A>G (p.Gln417=) rs753671990 0.00001
NM_002334.4(LRP4):c.1255T>G (p.Trp419Gly) rs1032020389 0.00001
NM_002334.4(LRP4):c.1310-7T>A rs1555174059 0.00001
NM_002334.4(LRP4):c.1344C>T (p.Ile448=) rs748651620 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 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.1599G>A (p.Ser533=) rs745607132 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.1761T>C (p.Ser587=) rs1191198188 0.00001
NM_002334.4(LRP4):c.1780G>A (p.Asp594Asn) rs779387728 0.00001
NM_002334.4(LRP4):c.1815C>T (p.Ile605=) rs776484339 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.186T>C (p.Asp62=) rs1941691871 0.00001
NM_002334.4(LRP4):c.1915+10T>C rs566481615 0.00001
NM_002334.4(LRP4):c.2009C>T (p.Thr670Met) rs752512047 0.00001
NM_002334.4(LRP4):c.2010G>A (p.Thr670=) rs199654257 0.00001
NM_002334.4(LRP4):c.2118C>T (p.Asn706=) rs762032159 0.00001
NM_002334.4(LRP4):c.2129C>T (p.Thr710Met) rs777222715 0.00001
NM_002334.4(LRP4):c.21G>A (p.Ala7=) rs967769665 0.00001
NM_002334.4(LRP4):c.2216-13G>A rs376073181 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.2325T>G (p.Ala775=) rs886048354 0.00001
NM_002334.4(LRP4):c.2374G>A (p.Val792Ile) rs190872977 0.00001
NM_002334.4(LRP4):c.2424+12C>T rs765593279 0.00001
NM_002334.4(LRP4):c.2424+13G>A rs374365893 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.2835C>T (p.Leu945=) rs201362411 0.00001
NM_002334.4(LRP4):c.2859C>T (p.Leu953=) rs1368908778 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.3005-17C>T rs778370608 0.00001
NM_002334.4(LRP4):c.3067C>T (p.Pro1023Ser) rs201695857 0.00001
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=) rs537403005 0.00001
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=) rs1000744964 0.00001
NM_002334.4(LRP4):c.3137-8C>T rs1941047135 0.00001
NM_002334.4(LRP4):c.316+1G>A rs780336679 0.00001
NM_002334.4(LRP4):c.317-11T>C rs776234303 0.00001
NM_002334.4(LRP4):c.317C>T (p.Pro106Leu) rs556889686 0.00001
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=) rs745991521 0.00001
NM_002334.4(LRP4):c.322C>T (p.Arg108Trp) rs775191643 0.00001
NM_002334.4(LRP4):c.3277+11C>T rs761158182 0.00001
NM_002334.4(LRP4):c.3331G>A (p.Asp1111Asn) rs770071302 0.00001
NM_002334.4(LRP4):c.3365-7C>T rs1565783851 0.00001
NM_002334.4(LRP4):c.339C>T (p.Asp113=) rs368971854 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.3609G>A (p.Ala1203=) rs755263623 0.00001
NM_002334.4(LRP4):c.3699+10G>A rs770541308 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.3825C>T (p.Ile1275=) rs200028319 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.390T>C (p.Asp130=) rs140186161 0.00001
NM_002334.4(LRP4):c.3919C>T (p.Pro1307Ser) rs771126504 0.00001
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=) rs1424152195 0.00001
NM_002334.4(LRP4):c.4043G>A (p.Cys1348Tyr) rs1940969409 0.00001
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=) rs771308040 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.4176T>C (p.Tyr1392=) rs1246562304 0.00001
NM_002334.4(LRP4):c.417C>T (p.Ser139=) rs760201117 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.430+7G>A rs1261702662 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.441G>A (p.Lys147=) rs986524567 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.4501T>C (p.Leu1501=) rs766956711 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.4899G>A (p.Ser1633=) rs143849188 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.5064G>A (p.Thr1688=) rs762976165 0.00001
NM_002334.4(LRP4):c.5071G>A (p.Glu1691Lys) rs528376810 0.00001
NM_002334.4(LRP4):c.5088-19A>C rs1338147762 0.00001
NM_002334.4(LRP4):c.5088-5C>T rs994961184 0.00001
NM_002334.4(LRP4):c.5101G>A (p.Asp1701Asn) rs1241649761 0.00001
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=) rs777935842 0.00001
NM_002334.4(LRP4):c.5156-15C>A rs1204328295 0.00001
NM_002334.4(LRP4):c.52+13C>T rs1434991490 0.00001
NM_002334.4(LRP4):c.5234T>C (p.Met1745Thr) rs776705313 0.00001
NM_002334.4(LRP4):c.5247C>T (p.His1749=) rs138596351 0.00001
NM_002334.4(LRP4):c.531C>T (p.Ser177=) rs751226124 0.00001
NM_002334.4(LRP4):c.5362A>C (p.Asn1788His) rs1208850907 0.00001
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=) rs376540994 0.00001
NM_002334.4(LRP4):c.541A>G (p.Asn181Asp) rs1208569811 0.00001
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=) rs772706817 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.548-18C>A rs779705585 0.00001
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=) rs767372541 0.00001
NM_002334.4(LRP4):c.5585C>T (p.Thr1862Met) rs368840169 0.00001
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=) rs762431184 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.724C>T (p.Leu242=) rs1037889784 0.00001
NM_002334.4(LRP4):c.746G>A (p.Arg249His) rs780066978 0.00001
NM_002334.4(LRP4):c.750C>T (p.Cys250=) rs758493823 0.00001
NM_002334.4(LRP4):c.759C>T (p.Asp253=) rs368640705 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.894C>T (p.Asn298=) rs1592542950 0.00001
NM_002334.4(LRP4):c.922+12C>T rs1297911489 0.00001
NM_002334.4(LRP4):c.922+19C>G rs749318305 0.00001
NM_002334.4(LRP4):c.923-19T>C rs528895748 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_003900.5(SQSTM1):c.1032A>G (p.Lys344=) rs982817243 0.00001
NM_003900.5(SQSTM1):c.1037T>C (p.Val346Ala) rs1250501488 0.00001
NM_003900.5(SQSTM1):c.1052G>C (p.Gly351Ala) rs1355424687 0.00001
NM_003900.5(SQSTM1):c.1060_1061del (p.Gln354fs) rs781417955 0.00001
NM_003900.5(SQSTM1):c.1077A>G (p.Pro359=) rs771948860 0.00001
NM_003900.5(SQSTM1):c.1084G>A (p.Glu362Lys) rs535932454 0.00001
NM_003900.5(SQSTM1):c.1090C>T (p.Pro364Ser) rs776303544 0.00001
NM_003900.5(SQSTM1):c.1122C>T (p.Pro374=) rs778199086 0.00001
NM_003900.5(SQSTM1):c.1139C>T (p.Ala380Val) rs1447276382 0.00001
NM_003900.5(SQSTM1):c.1160C>T (p.Pro387Leu) rs776749939 0.00001
NM_003900.5(SQSTM1):c.1165+1G>A rs796051870 0.00001
NM_003900.5(SQSTM1):c.1165G>C (p.Glu389Gln) rs1391182750 0.00001
NM_003900.5(SQSTM1):c.1166-6C>T rs762322293 0.00001
NM_003900.5(SQSTM1):c.1210A>G (p.Met404Val) rs771966860 0.00001
NM_003900.5(SQSTM1):c.1230C>T (p.Gly410=) rs766437927 0.00001
NM_003900.5(SQSTM1):c.1265A>G (p.Tyr422Cys) rs1471403162 0.00001
NM_003900.5(SQSTM1):c.1284G>T (p.Leu428=) rs573881131 0.00001
NM_003900.5(SQSTM1):c.1315C>A (p.Pro439Thr) rs752910741 0.00001
NM_003900.5(SQSTM1):c.1322G>A (p.Ter441=) rs987821927 0.00001
NM_003900.5(SQSTM1):c.158C>T (p.Ala53Val) rs1241285995 0.00001
NM_003900.5(SQSTM1):c.160C>T (p.Leu54=) rs1033321881 0.00001
NM_003900.5(SQSTM1):c.185G>T (p.Gly62Val) rs774355338 0.00001
NM_003900.5(SQSTM1):c.189C>T (p.Phe63=) rs1278023995 0.00001
NM_003900.5(SQSTM1):c.195G>A (p.Ala65=) rs986341874 0.00001
NM_003900.5(SQSTM1):c.205+6C>T rs1286712928 0.00001
NM_003900.5(SQSTM1):c.213C>T (p.Asp71=) rs780842511 0.00001
NM_003900.5(SQSTM1):c.222G>A (p.Leu74=) rs371268375 0.00001
NM_003900.5(SQSTM1):c.240C>T (p.Asp80=) rs148366738 0.00001
NM_003900.5(SQSTM1):c.241G>A (p.Glu81Lys) rs368853286 0.00001
NM_003900.5(SQSTM1):c.256G>C (p.Ala86Pro) rs1208284061 0.00001
NM_003900.5(SQSTM1):c.265T>C (p.Tyr89His) rs766411872 0.00001
NM_003900.5(SQSTM1):c.267C>T (p.Tyr89=) rs150883783 0.00001
NM_003900.5(SQSTM1):c.26A>G (p.Tyr9Cys) rs1295820640 0.00001
NM_003900.5(SQSTM1):c.274G>A (p.Asp92Asn) rs1181188986 0.00001
NM_003900.5(SQSTM1):c.275A>G (p.Asp92Gly) rs752438818 0.00001
NM_003900.5(SQSTM1):c.286C>T (p.Arg96Ter) rs886039782 0.00001
NM_003900.5(SQSTM1):c.293A>G (p.Tyr98Cys) rs750784335 0.00001
NM_003900.5(SQSTM1):c.302-5T>C rs199527061 0.00001
NM_003900.5(SQSTM1):c.315C>T (p.Cys105=) rs770804860 0.00001
NM_003900.5(SQSTM1):c.317G>A (p.Arg106Gln) rs778554903 0.00001
NM_003900.5(SQSTM1):c.319C>T (p.Arg107Trp) rs771903158 0.00001
NM_003900.5(SQSTM1):c.321G>A (p.Arg107=) rs1378204039 0.00001
NM_003900.5(SQSTM1):c.33G>C (p.Leu11=) rs1476097073 0.00001
NM_003900.5(SQSTM1):c.361A>G (p.Met121Val) rs1209470881 0.00001
NM_003900.5(SQSTM1):c.384C>T (p.Cys128=) rs768088721 0.00001
NM_003900.5(SQSTM1):c.385G>A (p.Asp129Asn) rs753212399 0.00001
NM_003900.5(SQSTM1):c.39G>A (p.Lys13=) rs1007964808 0.00001
NM_003900.5(SQSTM1):c.3G>A (p.Met1Ile) rs1309887153 0.00001
NM_003900.5(SQSTM1):c.429C>A (p.Ser143Arg) rs374417389 0.00001
NM_003900.5(SQSTM1):c.431T>A (p.Val144Asp) rs1442832120 0.00001
NM_003900.5(SQSTM1):c.444C>T (p.Tyr148=) rs769497182 0.00001
NM_003900.5(SQSTM1):c.508A>G (p.Ser170Gly) rs377198490 0.00001
NM_003900.5(SQSTM1):c.516C>T (p.Phe172=) rs1387392776 0.00001
NM_003900.5(SQSTM1):c.517G>A (p.Gly173Arg) rs200731802 0.00001
NM_003900.5(SQSTM1):c.531+15T>C rs1280173893 0.00001
NM_003900.5(SQSTM1):c.532-14A>G rs748661765 0.00001
NM_003900.5(SQSTM1):c.532-7C>T rs770329828 0.00001
NM_003900.5(SQSTM1):c.546C>T (p.Ser182=) rs759721454 0.00001
NM_003900.5(SQSTM1):c.557G>A (p.Arg186Gln) rs778537429 0.00001
NM_003900.5(SQSTM1):c.612A>G (p.Gly204=) rs878982215 0.00001
NM_003900.5(SQSTM1):c.649C>T (p.Arg217Cys) rs867275286 0.00001
NM_003900.5(SQSTM1):c.663G>A (p.Thr221=) rs758128093 0.00001
NM_003900.5(SQSTM1):c.674-7A>C rs776278684 0.00001
NM_003900.5(SQSTM1):c.686C>T (p.Ser229Leu) rs1397353855 0.00001
NM_003900.5(SQSTM1):c.695C>T (p.Pro232Leu) rs757778292 0.00001
NM_003900.5(SQSTM1):c.723G>C (p.Gly241=) rs889431769 0.00001
NM_003900.5(SQSTM1):c.728G>A (p.Ser243Asn) rs1325278483 0.00001
NM_003900.5(SQSTM1):c.72C>T (p.Ser24=) rs774460525 0.00001
NM_003900.5(SQSTM1):c.73T>C (p.Phe25Leu) rs1353365075 0.00001
NM_003900.5(SQSTM1):c.755-7C>T rs781389243 0.00001
NM_003900.5(SQSTM1):c.755-9C>T rs759140266 0.00001
NM_003900.5(SQSTM1):c.763G>C (p.Val255Leu) rs182522590 0.00001
NM_003900.5(SQSTM1):c.769A>G (p.Ile257Val) rs778679611 0.00001
NM_003900.5(SQSTM1):c.770T>C (p.Ile257Thr) rs745788957 0.00001
NM_003900.5(SQSTM1):c.784G>A (p.Gly262Arg) rs763179729 0.00001
NM_003900.5(SQSTM1):c.802C>G (p.Leu268Val) rs753685955 0.00001
NM_003900.5(SQSTM1):c.807C>G (p.Thr269=) rs779544030 0.00001
NM_003900.5(SQSTM1):c.810C>T (p.Pro270=) rs1280918343 0.00001
NM_003900.5(SQSTM1):c.866G>A (p.Cys289Tyr) rs757493001 0.00001
NM_003900.5(SQSTM1):c.87C>G (p.Pro29=) rs755859379 0.00001
NM_003900.5(SQSTM1):c.923C>T (p.Ala308Val) rs541356917 0.00001
NM_003900.5(SQSTM1):c.927G>A (p.Glu309=) rs766129922 0.00001
NM_003900.5(SQSTM1):c.938A>G (p.Lys313Arg) rs1460912506 0.00001
NM_003900.5(SQSTM1):c.964C>T (p.Pro322Ser) rs1225559170 0.00001
NM_003900.5(SQSTM1):c.970-14G>A rs761682844 0.00001
NM_003900.5(SQSTM1):c.97G>T (p.Ala33Ser) rs1156716975 0.00001
NM_003900.5(SQSTM1):c.995C>G (p.Ser332Ter) rs1185406298 0.00001
NM_003900.5(SQSTM1):c.998G>A (p.Gly333Glu) rs755411592 0.00001
NM_031471.6(FERMT3):c.1013C>T (p.Ala338Val) rs1006026359 0.00001
NM_031471.6(FERMT3):c.1029+18G>A rs768788260 0.00001
NM_031471.6(FERMT3):c.1029+19C>G rs986189621 0.00001
NM_031471.6(FERMT3):c.1030-9C>G rs368225468 0.00001
NM_031471.6(FERMT3):c.1047C>A (p.Ile349=) rs779076021 0.00001
NM_031471.6(FERMT3):c.1079+8G>T rs568273430 0.00001
NM_031471.6(FERMT3):c.1080-4G>A rs764978388 0.00001
NM_031471.6(FERMT3):c.1108C>T (p.Arg370Cys) rs867531303 0.00001
NM_031471.6(FERMT3):c.1119G>C (p.Trp373Cys) rs1347504374 0.00001
NM_031471.6(FERMT3):c.1165G>A (p.Glu389Lys) rs377759054 0.00001
NM_031471.6(FERMT3):c.1236C>T (p.Ser412=) rs187514956 0.00001
NM_031471.6(FERMT3):c.1239C>T (p.Gly413=) rs748029046 0.00001
NM_031471.6(FERMT3):c.1247T>G (p.Phe416Cys) rs772177008 0.00001
NM_031471.6(FERMT3):c.1260C>T (p.Leu420=) rs779788201 0.00001
NM_031471.6(FERMT3):c.1301G>A (p.Arg434Gln) rs767054440 0.00001
NM_031471.6(FERMT3):c.1363C>T (p.Arg455Cys) rs775462582 0.00001
NM_031471.6(FERMT3):c.1374C>T (p.Ala458=) rs762230079 0.00001
NM_031471.6(FERMT3):c.1439G>C (p.Ser480Thr) rs772388994 0.00001
NM_031471.6(FERMT3):c.1448C>T (p.Pro483Leu) rs561391251 0.00001
NM_031471.6(FERMT3):c.144G>T (p.Lys48Asn) rs369062120 0.00001
NM_031471.6(FERMT3):c.1507G>A (p.Val503Ile) rs769458086 0.00001
NM_031471.6(FERMT3):c.1527A>C (p.Arg509=) rs755898664 0.00001
NM_031471.6(FERMT3):c.160+11G>A rs1017427707 0.00001
NM_031471.6(FERMT3):c.1609C>T (p.Leu537=) rs772807042 0.00001
NM_031471.6(FERMT3):c.161-5C>T rs369340432 0.00001
NM_031471.6(FERMT3):c.1635C>G (p.Ser545=) rs765423929 0.00001
NM_031471.6(FERMT3):c.1642G>A (p.Asp548Asn) rs763268722 0.00001
NM_031471.6(FERMT3):c.1707C>T (p.Ile569=) rs746482825 0.00001
NM_031471.6(FERMT3):c.1726C>T (p.Arg576Cys) rs775250461 0.00001
NM_031471.6(FERMT3):c.1731C>T (p.Ile577=) rs184609471 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031471.6(FERMT3):c.1746C>T (p.Gly582=) rs773426791 0.00001
NM_031471.6(FERMT3):c.1819A>G (p.Ile607Val) rs755669055 0.00001
NM_031471.6(FERMT3):c.1841A>G (p.Asn614Ser) rs1337201735 0.00001
NM_031471.6(FERMT3):c.1842T>C (p.Asn614=) rs754873524 0.00001
NM_031471.6(FERMT3):c.1873C>T (p.Arg625Ter) rs375257104 0.00001
NM_031471.6(FERMT3):c.1896G>A (p.Gly632=) rs1307248777 0.00001
NM_031471.6(FERMT3):c.1918C>T (p.Arg640Trp) rs886043481 0.00001
NM_031471.6(FERMT3):c.1924C>T (p.Arg642Trp) rs778780064 0.00001
NM_031471.6(FERMT3):c.262G>A (p.Asp88Asn) rs370418382 0.00001
NM_031471.6(FERMT3):c.34A>G (p.Ile12Val) rs1946335026 0.00001
NM_031471.6(FERMT3):c.369T>C (p.Ala123=) rs1165361379 0.00001
NM_031471.6(FERMT3):c.389T>G (p.Leu130Arg) rs1433083830 0.00001
NM_031471.6(FERMT3):c.395-10C>T rs1259281702 0.00001
NM_031471.6(FERMT3):c.409G>A (p.Glu137Lys) rs762181713 0.00001
NM_031471.6(FERMT3):c.427C>T (p.Arg143Trp) rs750690989 0.00001
NM_031471.6(FERMT3):c.42G>A (p.Ser14=) rs1179556498 0.00001
NM_031471.6(FERMT3):c.475G>A (p.Glu159Lys) rs895025488 0.00001
NM_031471.6(FERMT3):c.516C>T (p.Gly172=) rs1484992100 0.00001
NM_031471.6(FERMT3):c.517G>A (p.Val173Met) rs756692622 0.00001
NM_031471.6(FERMT3):c.52C>G (p.Leu18Val) rs772115690 0.00001
NM_031471.6(FERMT3):c.535C>T (p.Arg179Trp) rs754848089 0.00001
NM_031471.6(FERMT3):c.568C>G (p.Gln190Glu) rs777178622 0.00001
NM_031471.6(FERMT3):c.660A>G (p.Ser220=) rs1456049623 0.00001
NM_031471.6(FERMT3):c.683+20C>T rs1565290775 0.00001
NM_031471.6(FERMT3):c.698C>T (p.Ser233Leu) rs140948450 0.00001
NM_031471.6(FERMT3):c.6G>A (p.Ala2=) rs767213325 0.00001
NM_031471.6(FERMT3):c.708C>T (p.Leu236=) rs749769689 0.00001
NM_031471.6(FERMT3):c.772G>A (p.Asp258Asn) rs139416960 0.00001
NM_031471.6(FERMT3):c.786+8G>A rs376909061 0.00001
NM_031471.6(FERMT3):c.787-12C>T rs1251257822 0.00001
NM_031471.6(FERMT3):c.827G>A (p.Arg276Gln) rs777040462 0.00001
NM_031471.6(FERMT3):c.889C>T (p.Leu297=) rs753533257 0.00001
NM_031471.6(FERMT3):c.894+16G>A rs747695131 0.00001
NM_031471.6(FERMT3):c.901A>G (p.Ile301Val) rs906322276 0.00001
NM_031471.6(FERMT3):c.902T>C (p.Ile301Thr) rs1376001840 0.00001
NM_031471.6(FERMT3):c.939G>A (p.Pro313=) rs1239621595 0.00001
NM_207122.2(EXT2):c.1003T>C (p.Leu335=) rs766467969 0.00001
NM_207122.2(EXT2):c.1019T>A (p.Val340Asp) rs371996957 0.00001
NM_207122.2(EXT2):c.1123A>G (p.Ser375Gly) rs369029338 0.00001
NM_207122.2(EXT2):c.1126A>G (p.Ile376Val) rs1465688101 0.00001
NM_207122.2(EXT2):c.1173+18G>A rs760436963 0.00001
NM_207122.2(EXT2):c.1180T>G (p.Trp394Gly) rs769052712 0.00001
NM_207122.2(EXT2):c.1208T>C (p.Ile403Thr) rs530523884 0.00001
NM_207122.2(EXT2):c.1226C>T (p.Ala409Val) rs1279920600 0.00001
NM_207122.2(EXT2):c.1231C>T (p.Leu411=) rs914948841 0.00001
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu) rs747153343 0.00001
NM_207122.2(EXT2):c.1270A>G (p.Ile424Val) rs1473876438 0.00001
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys) rs1403873034 0.00001
NM_207122.2(EXT2):c.1305+12C>G rs767006996 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207122.2(EXT2):c.1319T>A (p.Val440Glu) rs1053473840 0.00001
NM_207122.2(EXT2):c.1354C>G (p.Gln452Glu) rs1955475218 0.00001
NM_207122.2(EXT2):c.1375A>G (p.Ile459Val) rs779292816 0.00001
NM_207122.2(EXT2):c.1409T>C (p.Phe470Ser) rs1360036719 0.00001
NM_207122.2(EXT2):c.1484A>G (p.Asn495Ser) rs1590640131 0.00001
NM_207122.2(EXT2):c.1515C>G (p.Ile505Met) rs145279140 0.00001
NM_207122.2(EXT2):c.1516C>T (p.Arg506Trp) rs750549318 0.00001
NM_207122.2(EXT2):c.1518G>T (p.Arg506=) rs747230848 0.00001
NM_207122.2(EXT2):c.1575T>G (p.Pro525=) rs372914384 0.00001
NM_207122.2(EXT2):c.1610T>C (p.Ile537Thr) rs766600182 0.00001
NM_207122.2(EXT2):c.1824T>A (p.Tyr608Ter) rs781083252 0.00001
NM_207122.2(EXT2):c.1921A>C (p.Lys641Gln) rs773705067 0.00001
NM_207122.2(EXT2):c.1974A>G (p.Thr658=) rs1319948823 0.00001
NM_207122.2(EXT2):c.2041G>C (p.Ala681Pro) rs771936445 0.00001
NM_207122.2(EXT2):c.211C>T (p.Leu71=) rs766800368 0.00001
NM_207122.2(EXT2):c.2136C>T (p.Phe712=) rs575302404 0.00001
NM_207122.2(EXT2):c.219C>T (p.Ala73=) rs774620075 0.00001
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp) rs755625888 0.00001
NM_207122.2(EXT2):c.246T>C (p.Asp82=) rs559280035 0.00001
NM_207122.2(EXT2):c.252T>C (p.Ser84=) rs1463030663 0.00001
NM_207122.2(EXT2):c.266C>T (p.Thr89Met) rs143048174 0.00001
NM_207122.2(EXT2):c.267G>A (p.Thr89=) rs1386417457 0.00001
NM_207122.2(EXT2):c.296A>T (p.Asn99Ile) rs147587178 0.00001
NM_207122.2(EXT2):c.408C>T (p.Ala136=) rs777178095 0.00001
NM_207122.2(EXT2):c.415G>A (p.Asp139Asn) rs1038984851 0.00001
NM_207122.2(EXT2):c.502A>G (p.Lys168Glu) rs762533540 0.00001
NM_207122.2(EXT2):c.537-19A>G rs764148237 0.00001
NM_207122.2(EXT2):c.640G>A (p.Gly214Ser) rs550761834 0.00001
NM_207122.2(EXT2):c.646G>A (p.Gly216Ser) rs1208541215 0.00001
NM_207122.2(EXT2):c.656C>T (p.Thr219Met) rs202208526 0.00001
NM_207122.2(EXT2):c.667C>T (p.Arg223Trp) rs201062014 0.00001
NM_207122.2(EXT2):c.678C>T (p.Tyr226=) rs1406801697 0.00001
NM_207122.2(EXT2):c.67C>T (p.Arg23Ter) rs754533434 0.00001
NM_207122.2(EXT2):c.744-11T>A rs754484381 0.00001
NM_207122.2(EXT2):c.753A>G (p.Gln251=) rs1310756667 0.00001
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser) rs745738318 0.00001
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys) rs375468766 0.00001
NM_207122.2(EXT2):c.936A>G (p.Leu312=) rs760218623 0.00001
NM_207122.2(EXT2):c.940-9T>C rs374555467 0.00001
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln) rs762292898 0.00001
NM_207122.2(EXT2):c.997G>A (p.Asp333Asn) rs1182974716 0.00001
NM_207122.2(EXT2):c.9G>A (p.Ala3=) rs774142487 0.00001
NC_000005.10:g.(?_179836426)_(179836603_?)del
NC_000005.9:g.(?_178413111)_(179263593_?)dup
NC_000005.9:g.(?_178770758)_(179263603_?)dup
NC_000005.9:g.(?_179260012)_(179260802_?)del
NC_000005.9:g.(?_179260567)_(179263593_?)dup
NC_000005.9:g.(?_179263416)_(179263593_?)del
NC_000008.10:g.(?_117647788)_(120797526_?)dup
NC_000008.10:g.(?_118803587)_(118819524_?)del
NC_000008.10:g.(?_118811951)_(118812156_?)del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118811951)_(118849460_?)del
NC_000008.10:g.(?_118816941)_(118817152_?)del
NC_000008.10:g.(?_118819436)_(118825220_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.10:g.(?_118825091)_(118825220_?)del
NC_000008.10:g.(?_118825208)_119035925del
NC_000008.10:g.(?_118830654)_(118849460_?)del
NC_000008.10:g.(?_118831895)_(118834856_?)del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_118847663)_(118849460_?)del
NC_000008.10:g.(?_119122304)_(119123285_?)del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(118111066_?)del
NC_000008.11:g.(?_117807197)_(117807397_?)del
NC_000008.11:g.(?_117812852)_(117837221_?)dup
NC_000008.11:g.(?_117830210)_(117837221_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.10:g.44109194del
NC_000011.9:g.(?_44129235)_(44129808_?)del
NC_000011.9:g.(?_44129235)_(44151698_?)del
NC_000011.9:g.(?_44219359)_(44228529_?)del
NC_000011.9:g.(?_46880534)_(46893204_?)dup
NC_000011.9:g.(?_46880534)_(46918565_?)dup
NC_000011.9:g.(?_58916346)_(64972349_?)dup
NC_000011.9:g.(?_63974837)_(63990964_?)dup
NM_000127.2(EXT1):c.1418del rs1811893467
NM_000127.3(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg) rs1812200901
NM_000127.3(EXT1):c.1013G>A (p.Arg338His) rs1288618931
NM_000127.3(EXT1):c.1015G>A (p.Gly339Ser) rs2129791225
NM_000127.3(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.3(EXT1):c.1016G>T (p.Gly339Val)
NM_000127.3(EXT1):c.1018C>G (p.Arg340Gly) rs119103290
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys) rs119103290
NM_000127.3(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.3(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.3(EXT1):c.1021A>G (p.Arg341Gly) rs1554580149
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg) rs978347552
NM_000127.3(EXT1):c.1028G>A (p.Gly343Glu) rs1206600641
NM_000127.3(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.3(EXT1):c.1037G>T (p.Arg346Ile) rs1812200035
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1038A>G (p.Arg346=) rs2129791072
NM_000127.3(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.3(EXT1):c.1046_1047del (p.Glu349fs)
NM_000127.3(EXT1):c.1050T>G (p.Ala350=) rs751521449
NM_000127.3(EXT1):c.1051T>G (p.Leu351Val)
NM_000127.3(EXT1):c.1052dup (p.Leu351fs) rs2129790994
NM_000127.3(EXT1):c.1053_1056+1del rs1563575654
NM_000127.3(EXT1):c.1056+1G>A rs886039354
NM_000127.3(EXT1):c.1056+1G>T rs886039354
NM_000127.3(EXT1):c.1056+2T>A rs1554580142
NM_000127.3(EXT1):c.1056+3A>C rs1554580140
NM_000127.3(EXT1):c.1056+4A>G
NM_000127.3(EXT1):c.1056G>T (p.Gln352His) rs1812199676
NM_000127.3(EXT1):c.1057-12dup rs775982542
NM_000127.3(EXT1):c.1057-1G>C rs1587003661
NM_000127.3(EXT1):c.1057-2A>G rs1587003662
NM_000127.3(EXT1):c.1057-2A>T rs1587003662
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1057-8T>C
NM_000127.3(EXT1):c.1063T>C (p.Cys355Arg) rs1587003655
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr) rs2129786671
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg) rs1131691337
NM_000127.3(EXT1):c.1073dup (p.Met359fs) rs2129786583
NM_000127.3(EXT1):c.1076dup (p.Met359fs) rs2129786574
NM_000127.3(EXT1):c.1091G>A (p.Trp364Ter)
NM_000127.3(EXT1):c.1091G>T (p.Trp364Leu)
NM_000127.3(EXT1):c.1093G>A (p.Glu365Lys)
NM_000127.3(EXT1):c.1101A>G (p.Pro367=)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter) rs1812174128
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1122G>A (p.Trp374Ter) rs2129786370
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter) rs1812173838
NM_000127.3(EXT1):c.1126del (p.Gln376fs) rs2129786342
NM_000127.3(EXT1):c.1129G>A (p.Ala377Thr) rs1812173796
NM_000127.3(EXT1):c.112GAA[1] (p.Glu39del) rs1782100732
NM_000127.3(EXT1):c.1134C>T (p.Ala378=)
NM_000127.3(EXT1):c.1137C>T (p.Val379=)
NM_000127.3(EXT1):c.1138A>G (p.Ile380Val) rs747020325
NM_000127.3(EXT1):c.1144G>A (p.Asp382Asn)
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs) rs1812173037
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter) rs2129786157
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter) rs1817891356
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1162C>T (p.Gln388Ter) rs2129786122
NM_000127.3(EXT1):c.1164+15G>A
NM_000127.3(EXT1):c.1164+1G>A rs2129786098
NM_000127.3(EXT1):c.1164+1G>T
NM_000127.3(EXT1):c.1164+3A>G
NM_000127.3(EXT1):c.1165-1G>C
NM_000127.3(EXT1):c.1165-2A>C
NM_000127.3(EXT1):c.1165-2A>G
NM_000127.3(EXT1):c.1165-3C>G rs1812078461
NM_000127.3(EXT1):c.1165-4A>G
NM_000127.3(EXT1):c.1165-6T>G rs1812078551
NM_000127.3(EXT1):c.1167del (p.Pro390fs) rs1812078315
NM_000127.3(EXT1):c.1175C>T (p.Thr392Ile)
NM_000127.3(EXT1):c.1177A>G (p.Ile393Val)
NM_000127.3(EXT1):c.1180A>G (p.Arg394Gly)
NM_000127.3(EXT1):c.1184C>G (p.Ser395Cys)
NM_000127.3(EXT1):c.1186A>G (p.Ile396Val)
NM_000127.3(EXT1):c.1189C>A (p.His397Asn)
NM_000127.3(EXT1):c.1190A>G (p.His397Arg)
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter) rs561006425
NM_000127.3(EXT1):c.1193del (p.Gln398fs) rs2129772368
NM_000127.3(EXT1):c.1196A>T (p.Asp399Val)
NM_000127.3(EXT1):c.119A>G (p.His40Arg)
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr) rs1812077443
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1217del (p.Gln406fs) rs2129772259
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter) rs1812077342
NM_000127.3(EXT1):c.1220del (p.Gln407fs) rs1812077295
NM_000127.3(EXT1):c.1225C>A (p.Gln409Lys) rs755694640
NM_000127.3(EXT1):c.1231T>C (p.Leu411=)
NM_000127.3(EXT1):c.1234del (p.Trp412fs) rs1812076996
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs) rs1812076915
NM_000127.3(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.3(EXT1):c.1239G>A (p.Glu413=) rs756701753
NM_000127.3(EXT1):c.1244A>G (p.Tyr415Cys)
NM_000127.3(EXT1):c.1249del (p.Ser417fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1263G>A (p.Lys421=) rs2129772013
NM_000127.3(EXT1):c.1269A>G (p.Val423=)
NM_000127.3(EXT1):c.1271T>G (p.Leu424Ter)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro) rs1812075737
NM_000127.3(EXT1):c.1284+12del
NM_000127.3(EXT1):c.1284+20T>C
NM_000127.3(EXT1):c.1284+2dup
NM_000127.3(EXT1):c.1284+7G>A
NM_000127.3(EXT1):c.1285-1G>T rs1811943967
NM_000127.3(EXT1):c.1285-6T>G
NM_000127.3(EXT1):c.1288A>T (p.Ile430Phe) rs2129749685
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter) rs1811943921
NM_000127.3(EXT1):c.1296C>G (p.Asp432Glu)
NM_000127.3(EXT1):c.1296del (p.Asp432fs)
NM_000127.3(EXT1):c.1297A>C (p.Arg433=) rs1037557280
NM_000127.3(EXT1):c.129G>T (p.Arg43Ser)
NM_000127.3(EXT1):c.129del (p.Asn44fs) rs1817890492
NM_000127.3(EXT1):c.1307dup (p.His437fs)
NM_000127.3(EXT1):c.1309C>G (p.His437Asp)
NM_000127.3(EXT1):c.1312A>G (p.Ile438Val)
NM_000127.3(EXT1):c.1314A>G (p.Ile438Met)
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer) rs1563571296
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.3(EXT1):c.1317dup (p.Arg440fs)
NM_000127.3(EXT1):c.1318C>T (p.Arg440Cys)
NM_000127.3(EXT1):c.1319G>C (p.Arg440Pro)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter) rs1811942900
NM_000127.3(EXT1):c.1321A>G (p.Asn441Asp)
NM_000127.3(EXT1):c.1332A>G (p.Ile444Met)
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter) rs1811942574
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu) rs1811942159
NM_000127.3(EXT1):c.1350del (p.Gly451fs) rs1811942117
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu) rs1430395411
NM_000127.3(EXT1):c.1368A>G (p.Pro456=)
NM_000127.3(EXT1):c.1383T>A (p.Tyr461Ter)
NM_000127.3(EXT1):c.1383T>C (p.Tyr461=)
NM_000127.3(EXT1):c.1384_1388del (p.Leu462fs) rs2129749144
NM_000127.3(EXT1):c.1388G>T (p.Gly463Val)
NM_000127.3(EXT1):c.138G>T (p.Leu46Phe)
NM_000127.3(EXT1):c.1391A>G (p.Asp464Gly) rs2129749125
NM_000127.3(EXT1):c.1400A>C (p.Tyr467Ser) rs2129749069
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter) rs1811941012
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter) rs1811940928
NM_000127.3(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter) rs1811940837
NM_000127.3(EXT1):c.1405del (p.Tyr469fs) rs1811940788
NM_000127.3(EXT1):c.1407T>G (p.Tyr469Ter)
NM_000127.3(EXT1):c.1408G>A (p.Ala470Thr) rs746738537
NM_000127.3(EXT1):c.1417+16C>T
NM_000127.3(EXT1):c.1417+19G>C
NM_000127.3(EXT1):c.1417+1G>A rs1586997796
NM_000127.3(EXT1):c.1417+1G>T rs1586997796
NM_000127.3(EXT1):c.1417+1del rs2129748931
NM_000127.3(EXT1):c.1417+2T>A rs1554578992
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1417+6T>C rs1811940247
NM_000127.3(EXT1):c.1418-13C>T
NM_000127.3(EXT1):c.1418-13_1418-11del rs1203626052
NM_000127.3(EXT1):c.1418-1G>A rs2129741436
NM_000127.3(EXT1):c.1418-20T>C rs376258820
NM_000127.3(EXT1):c.1418-2A>G rs1554578802
NM_000127.3(EXT1):c.1418-7A>G
NM_000127.3(EXT1):c.1418-8T>G
NM_000127.3(EXT1):c.141C>T (p.His47=)
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1421T>G (p.Leu474Ter) rs1811893325
NM_000127.3(EXT1):c.1424del (p.Lys475fs)
NM_000127.3(EXT1):c.1425G>A (p.Lys475=) rs1442814688
NM_000127.3(EXT1):c.1429C>G (p.Pro477Ala)
NM_000127.3(EXT1):c.1430C>T (p.Pro477Leu)
NM_000127.3(EXT1):c.1431del (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.3(EXT1):c.1437del (p.Lys479fs)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=) rs765275156
NM_000127.3(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.3(EXT1):c.1465C>A (p.Pro489Thr)
NM_000127.3(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.3(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.3(EXT1):c.146C>G (p.Pro49Arg)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter) rs1811890821
NM_000127.3(EXT1):c.147C>T (p.Pro49=) rs1248782526
NM_000127.3(EXT1):c.1486C>T (p.Pro496Ser)
NM_000127.3(EXT1):c.1503C>T (p.Leu501=) rs146108006
NM_000127.3(EXT1):c.1508_1512del (p.Ala503fs)
NM_000127.3(EXT1):c.1515C>A (p.Ala505=) rs2129740778
NM_000127.3(EXT1):c.1522C>T (p.Gln508Ter) rs2129740737
NM_000127.3(EXT1):c.1522del (p.Gln508fs) rs2129740749
NM_000127.3(EXT1):c.1528T>C (p.Cys510Arg)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter) rs1383256196
NM_000127.3(EXT1):c.1536+11A>G
NM_000127.3(EXT1):c.1536+1G>A rs1811889441
NM_000127.3(EXT1):c.1536+1G>C rs1811889441
NM_000127.3(EXT1):c.1536+3G>A rs2129740657
NM_000127.3(EXT1):c.1536+5G>C
NM_000127.3(EXT1):c.1536G>C (p.Gln512His) rs1811889486
NM_000127.3(EXT1):c.1537-16G>A
NM_000127.3(EXT1):c.1537-1G>C rs2129736985
NM_000127.3(EXT1):c.1537-2A>G rs1554578710
NM_000127.3(EXT1):c.1537A>G (p.Ile513Val)
NM_000127.3(EXT1):c.153G>A (p.Pro51=)
NM_000127.3(EXT1):c.1543G>A (p.Val515Ile)
NM_000127.3(EXT1):c.154G>T (p.Asp52Tyr)
NM_000127.3(EXT1):c.1550G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs) rs1811864784
NM_000127.3(EXT1):c.1571C>T (p.Pro524Leu)
NM_000127.3(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.3(EXT1):c.157C>A (p.His53Asn)
NM_000127.3(EXT1):c.1586G>A (p.Trp529Ter)
NM_000127.3(EXT1):c.1598C>T (p.Ala533Val)
NM_000127.3(EXT1):c.1599T>C (p.Ala533=)
NM_000127.3(EXT1):c.15dup (p.Arg6fs) rs759834555
NM_000127.3(EXT1):c.1611C>T (p.Val537=)
NM_000127.3(EXT1):c.1616T>C (p.Ile539Thr)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter) rs1811863055
NM_000127.3(EXT1):c.1624G>T (p.Glu542Ter) rs2129736434
NM_000127.3(EXT1):c.1632+10G>A
NM_000127.3(EXT1):c.1632+16G>A
NM_000127.3(EXT1):c.1632+16G>C
NM_000127.3(EXT1):c.1632+1dup rs1811862827
NM_000127.3(EXT1):c.1632+2T>G
NM_000127.3(EXT1):c.1632+9C>A rs368634215
NM_000127.3(EXT1):c.1633-14C>G
NM_000127.3(EXT1):c.1633-15T>A
NM_000127.3(EXT1):c.1633-16T>C
NM_000127.3(EXT1):c.1633-1G>A rs1823354043
NM_000127.3(EXT1):c.1633-1G>T rs1823354043
NM_000127.3(EXT1):c.1633-34_1670del rs1554657940
NM_000127.3(EXT1):c.1635T>G (p.Val545=)
NM_000127.3(EXT1):c.1642del (p.Ser548fs)
NM_000127.3(EXT1):c.1656del (p.Tyr553fs) rs1823353269
NM_000127.3(EXT1):c.1658A>G (p.Tyr553Cys)
NM_000127.3(EXT1):c.1658dup (p.Tyr553Ter) rs2129720355
NM_000127.3(EXT1):c.1659C>G (p.Tyr553Ter) rs757115396
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer) rs1823353089
NM_000127.3(EXT1):c.1660G>A (p.Asp554Asn)
NM_000127.3(EXT1):c.1660G>T (p.Asp554Tyr) rs751582814
NM_000127.3(EXT1):c.1664A>T (p.Asn555Ile)
NM_000127.3(EXT1):c.1666dup (p.Ile556fs)
NM_000127.3(EXT1):c.1668_1680dup (p.Val561fs)
NM_000127.3(EXT1):c.166C>G (p.Pro56Ala) rs368004125
NM_000127.3(EXT1):c.1670T>C (p.Ile557Thr)
NM_000127.3(EXT1):c.1670_1687del (p.Ile557_Leu562del)
NM_000127.3(EXT1):c.1677C>T (p.Asp559=) rs752594306
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs) rs1823352329
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs) rs1823351882
NM_000127.3(EXT1):c.1678_1679del (p.Ala560fs) rs1823352107
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs) rs1823352107
NM_000127.3(EXT1):c.1685T>C (p.Leu562Pro)
NM_000127.3(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.3(EXT1):c.1688G>A (p.Ser563Asn)
NM_000127.3(EXT1):c.1692dup (p.Asp565Ter) rs2129720016
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter) rs1586993117
NM_000127.3(EXT1):c.16C>G (p.Arg6Gly)
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs) rs1823350888
NM_000127.3(EXT1):c.1722+11A>G
NM_000127.3(EXT1):c.1722+1G>A
NM_000127.3(EXT1):c.1722+1G>T rs1823350857
NM_000127.3(EXT1):c.1722+2T>G rs1823350795
NM_000127.3(EXT1):c.1722+2dup
NM_000127.3(EXT1):c.1723-17T>A rs2129702062
NM_000127.3(EXT1):c.1723-2A>C rs1823255835
NM_000127.3(EXT1):c.1723-2A>T rs1823255835
NM_000127.3(EXT1):c.1731C>T (p.Phe577=)
NM_000127.3(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.1762dup (p.Arg588fs) rs2129701760
NM_000127.3(EXT1):c.1767dup (p.Val590fs)
NM_000127.3(EXT1):c.176del (p.Pro59fs) rs1817889027
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs) rs1823254431
NM_000127.3(EXT1):c.1771G>C (p.Gly591Arg)
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter) rs1823254238
NM_000127.3(EXT1):c.1779del (p.Ala594fs) rs2129701642
NM_000127.3(EXT1):c.1784_1785del (p.Arg595fs)
NM_000127.3(EXT1):c.178G>T (p.Asp60Tyr) rs2130045112
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter) rs1823253698
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter) rs1718310043
NM_000127.3(EXT1):c.17G>C (p.Arg6Pro)
NM_000127.3(EXT1):c.1801A>G (p.Asn601Asp)
NM_000127.3(EXT1):c.1805_1806del (p.Asn601_Ser602insTer)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter) rs1823253516
NM_000127.3(EXT1):c.1807A>T (p.Lys603Ter)
NM_000127.3(EXT1):c.180C>A (p.Asp60Glu)
NM_000127.3(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.3(EXT1):c.1814G>A (p.Arg605Gln) rs755747479
NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter) rs1823253080
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter) rs1823253013
NM_000127.3(EXT1):c.1819_1820del (p.Gly607fs)
NM_000127.3(EXT1):c.1829C>A (p.Ser610Ter) rs2129701251
NM_000127.3(EXT1):c.1835G>A (p.Trp612Ter)
NM_000127.3(EXT1):c.1836G>A (p.Trp612Ter) rs2129701239
NM_000127.3(EXT1):c.1842C>T (p.Asn614=)
NM_000127.3(EXT1):c.1844dup (p.Asp615fs)
NM_000127.3(EXT1):c.1845C>T (p.Asp615=) rs2129701116
NM_000127.3(EXT1):c.1845del (p.Tyr616fs) rs2129701119
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter) rs1563873580
NM_000127.3(EXT1):c.1848C>T (p.Tyr616=)
NM_000127.3(EXT1):c.1852A>G (p.Met618Val)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr) rs1823251698
NM_000127.3(EXT1):c.1872T>C (p.Ala624=) rs1823251633
NM_000127.3(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter) rs2129700894
NM_000127.3(EXT1):c.1883+14A>T
NM_000127.3(EXT1):c.1883+1G>A rs1823251265
NM_000127.3(EXT1):c.1883+1G>T rs1823251265
NM_000127.3(EXT1):c.1883+2T>C rs1823251224
NM_000127.3(EXT1):c.1883+6del
NM_000127.3(EXT1):c.1883A>G (p.Lys628Arg)
NM_000127.3(EXT1):c.1884-1G>A rs1131691623
NM_000127.3(EXT1):c.1884-1G>T rs1131691623
NM_000127.3(EXT1):c.1885T>C (p.Tyr629His)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del) rs1823215172
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs) rs1823215251
NM_000127.3(EXT1):c.1887T>C (p.Tyr629=) rs1823215215
NM_000127.3(EXT1):c.1888dup (p.Tyr630fs)
NM_000127.3(EXT1):c.188G>A (p.Arg63His)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu) rs187891947
NM_000127.3(EXT1):c.18C>G (p.Arg6=) rs1199624139
NM_000127.3(EXT1):c.1900_1901insGG (p.Tyr634fs)
NM_000127.3(EXT1):c.1902C>G (p.Tyr634Ter) rs2129694149
NM_000127.3(EXT1):c.1906del (p.His636fs) rs2129694129
NM_000127.3(EXT1):c.1910A>G (p.Tyr637Cys)
NM_000127.3(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.3(EXT1):c.1925del (p.Leu642fs) rs1823214768
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu) rs1823214606
NM_000127.3(EXT1):c.1944A>G (p.Gln648=)
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.1945T>C (p.Leu649=)
NM_000127.3(EXT1):c.1948G>A (p.Ala650Thr)
NM_000127.3(EXT1):c.194del (p.Phe65fs)
NM_000127.3(EXT1):c.1965del (p.Leu656fs) rs1823213816
NM_000127.3(EXT1):c.1971G>C (p.Met657Ile)
NM_000127.3(EXT1):c.1971del (p.Met657fs) rs1823213767
NM_000127.3(EXT1):c.1983G>A (p.Val661=) rs962526270
NM_000127.3(EXT1):c.1987G>C (p.Ala663Pro)
NM_000127.3(EXT1):c.1998A>G (p.Lys666=)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs) rs2129693616
NM_000127.3(EXT1):c.19T>G (p.Tyr7Asp) rs2130046079
NM_000127.3(EXT1):c.1A>C (p.Met1Leu)
NM_000127.3(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.3(EXT1):c.2004del (p.Pro669fs) rs1563872934
NM_000127.3(EXT1):c.200C>A (p.Pro67His) rs371817652
NM_000127.3(EXT1):c.200C>G (p.Pro67Arg) rs371817652
NM_000127.3(EXT1):c.2016G>A (p.Val672=)
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter) rs1823212809
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter) rs1823212774
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter) rs2130044984
NM_000127.3(EXT1):c.2043A>T (p.Thr681=) rs746481404
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs) rs1823212594
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter) rs1823212414
NM_000127.3(EXT1):c.2055+10G>A
NM_000127.3(EXT1):c.2055+20del
NM_000127.3(EXT1):c.2055+5G>A rs1823212383
NM_000127.3(EXT1):c.2056-14C>G
NM_000127.3(EXT1):c.2056-14C>T rs759290391
NM_000127.3(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.3(EXT1):c.2065G>T (p.Ala689Ser)
NM_000127.3(EXT1):c.2067T>G (p.Ala689=)
NM_000127.3(EXT1):c.2071C>T (p.Arg691Cys) rs1586987089
NM_000127.3(EXT1):c.2079T>C (p.Ala693=)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter) rs1817887343
NM_000127.3(EXT1):c.2098C>A (p.Gln700Lys)
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.3(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.3(EXT1):c.2115del (p.Met705fs) rs1823137578
NM_000127.3(EXT1):c.2119dup (p.Thr707fs) rs1823137520
NM_000127.3(EXT1):c.211T>C (p.Leu71=)
NM_000127.3(EXT1):c.2120C>T (p.Thr707Met) rs756718693
NM_000127.3(EXT1):c.2131del (p.Trp711fs) rs2129679904
NM_000127.3(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.3(EXT1):c.2133G>A (p.Trp711Ter) rs2129679879
NM_000127.3(EXT1):c.2134T>C (p.Phe712Leu)
NM_000127.3(EXT1):c.213G>C (p.Leu71Phe)
NM_000127.3(EXT1):c.2156A>C (p.His719Pro) rs751787859
NM_000127.3(EXT1):c.2161C>G (p.Gln721Glu)
NM_000127.3(EXT1):c.2170C>T (p.Leu724Phe)
NM_000127.3(EXT1):c.2179G>A (p.Val727Ile)
NM_000127.3(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.3(EXT1):c.2199C>T (p.Val733=) rs201230140
NM_000127.3(EXT1):c.2203A>G (p.Ile735Val)
NM_000127.3(EXT1):c.2226C>A (p.Asp742Glu)
NM_000127.3(EXT1):c.232G>A (p.Val78Met)
NM_000127.3(EXT1):c.238A>G (p.Ile80Val) rs1817886276
NM_000127.3(EXT1):c.240T>C (p.Ile80=)
NM_000127.3(EXT1):c.243C>A (p.Ser81=) rs916118962
NM_000127.3(EXT1):c.247del (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.3(EXT1):c.249dup (p.Gln84fs)
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter) rs1064793753
NM_000127.3(EXT1):c.251A>G (p.Gln84Arg)
NM_000127.3(EXT1):c.256C>T (p.Arg86Ter)
NM_000127.3(EXT1):c.260A>T (p.Asp87Val) rs2130044605
NM_000127.3(EXT1):c.266A>C (p.Asn89Thr)
NM_000127.3(EXT1):c.266dup (p.Asn89fs) rs1817885411
NM_000127.3(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.3(EXT1):c.277T>A (p.Tyr93Asn) rs1402667727
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.3(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.3(EXT1):c.286A>G (p.Lys96Glu)
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter) rs1817884837
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs) rs2130044431
NM_000127.3(EXT1):c.287del (p.Lys96fs) rs1817884791
NM_000127.3(EXT1):c.291G>T (p.Lys97Asn) rs2130044422
NM_000127.3(EXT1):c.293del (p.Cys98fs) rs2130044416
NM_000127.3(EXT1):c.315T>C (p.Asp105=)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu) rs1817884143
NM_000127.3(EXT1):c.31C>T (p.Leu11Phe) rs769143352
NM_000127.3(EXT1):c.322C>T (p.Leu108Phe) rs2130044245
NM_000127.3(EXT1):c.329A>G (p.Lys110Arg) rs1178109514
NM_000127.3(EXT1):c.331A>T (p.Lys111Ter)
NM_000127.3(EXT1):c.345dup (p.Val116fs)
NM_000127.3(EXT1):c.349T>C (p.Tyr117His)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter) rs982804750
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)
NM_000127.3(EXT1):c.357C>G (p.Tyr119Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs) rs1817882619
NM_000127.3(EXT1):c.361C>T (p.Gln121Ter) rs2130043930
NM_000127.3(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.3(EXT1):c.369_370del (p.Lys126fs) rs2130043872
NM_000127.3(EXT1):c.371G>A (p.Gly124Glu) rs761940324
NM_000127.3(EXT1):c.373G>T (p.Glu125Ter)
NM_000127.3(EXT1):c.373del (p.Glu125fs)
NM_000127.3(EXT1):c.373dup (p.Glu125fs) rs2130043834
NM_000127.3(EXT1):c.379del (p.Ile127fs)
NM_000127.3(EXT1):c.384C>G (p.Ala128=)
NM_000127.3(EXT1):c.385G>T (p.Glu129Ter)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.393C>G (p.Tyr131Ter) rs2130043699
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer) rs1817881036
NM_000127.3(EXT1):c.404T>C (p.Leu135Pro)
NM_000127.3(EXT1):c.407C>A (p.Ala136Glu)
NM_000127.3(EXT1):c.409G>A (p.Ala137Thr)
NM_000127.3(EXT1):c.414C>T (p.Ile138=)
NM_000127.3(EXT1):c.419G>A (p.Gly140Asp)
NM_000127.3(EXT1):c.419del (p.Gly140fs)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe) rs1817880635
NM_000127.3(EXT1):c.423C>T (p.Ser141=) rs2130043533
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser) rs1188458258
NM_000127.3(EXT1):c.435del (p.Ser146fs) rs2130043490
NM_000127.3(EXT1):c.43_53del (p.Ser15fs)
NM_000127.3(EXT1):c.441C>T (p.Asp147=)
NM_000127.3(EXT1):c.444dup (p.Ser149fs)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg) rs1817880148
NM_000127.3(EXT1):c.44C>G (p.Ser15Cys)
NM_000127.3(EXT1):c.453G>C (p.Ala151=) rs780843781
NM_000127.3(EXT1):c.455G>A (p.Cys152Tyr) rs2130043370
NM_000127.3(EXT1):c.455_456del (p.Cys152fs)
NM_000127.3(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro) rs1817879832
NM_000127.3(EXT1):c.461_462del (p.Phe154fs) rs2130043334
NM_000127.3(EXT1):c.465C>T (p.Val155=)
NM_000127.3(EXT1):c.46del (p.Cys16fs) rs1817893887
NM_000127.3(EXT1):c.472C>G (p.Leu158Val)
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.487dup (p.Arg163fs) rs1817879250
NM_000127.3(EXT1):c.490_491del (p.Asp164fs) rs1817879125
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro) rs1227559201
NM_000127.3(EXT1):c.49_61del (p.Leu17fs)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter) rs1817895168
NM_000127.3(EXT1):c.510T>G (p.Tyr170Ter)
NM_000127.3(EXT1):c.515_527del (p.His172fs)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter) rs1817878703
NM_000127.3(EXT1):c.517A>G (p.Asn173Asp) rs1448140995
NM_000127.3(EXT1):c.528C>G (p.Ser176=)
NM_000127.3(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.3(EXT1):c.535C>G (p.Gln179Glu)
NM_000127.3(EXT1):c.535C>T (p.Gln179Ter) rs886039561
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del rs2130039927
NM_000127.3(EXT1):c.541C>G (p.Leu181Val)
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.551_552del (p.Leu183_Trp184insTer)
NM_000127.3(EXT1):c.552G>A (p.Trp184Ter)
NM_000127.3(EXT1):c.557_558del (p.Asn186fs) rs2130042921
NM_000127.3(EXT1):c.558T>C (p.Asn186=) rs1817877428
NM_000127.3(EXT1):c.559G>A (p.Gly187Ser)
NM_000127.3(EXT1):c.55del (p.Leu19fs)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys) rs775696069
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser) rs1817877271
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr) rs1817877229
NM_000127.3(EXT1):c.568_570del (p.His190del) rs1817877188
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser) rs1563659467
NM_000127.3(EXT1):c.574A>G (p.Ile192Val)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn) rs1817877044
NM_000127.3(EXT1):c.579T>A (p.Phe193Leu) rs2130042837
NM_000127.3(EXT1):c.582T>C (p.Asn194=)
NM_000127.3(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.3(EXT1):c.593G>T (p.Gly198Val) rs1817876363
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala) rs1817876310
NM_000127.3(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.3(EXT1):c.600G>A (p.Trp200Ter) rs1817876148
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys) rs1817876148
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser) rs1817876107
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe) rs1817893321
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs) rs2130045851
NM_000127.3(EXT1):c.612C>A (p.Thr204=)
NM_000127.3(EXT1):c.613G>T (p.Glu205Ter) rs2130042683
NM_000127.3(EXT1):c.615G>A (p.Glu205=)
NM_000127.3(EXT1):c.635G>C (p.Gly212Ala)
NM_000127.3(EXT1):c.637C>T (p.Gln213Ter) rs2130042549
NM_000127.3(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.3(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.3(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.3(EXT1):c.644_654del (p.Met215fs) rs2130042421
NM_000127.3(EXT1):c.646C>G (p.Leu216Val)
NM_000127.3(EXT1):c.648G>A (p.Leu216=) rs2130042468
NM_000127.3(EXT1):c.649_662del (p.Ala217fs) rs1817874249
NM_000127.3(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs) rs1817873963
NM_000127.3(EXT1):c.651_668del (p.Lys218_Thr223del)
NM_000127.3(EXT1):c.658A>G (p.Ser220Gly) rs1554601506
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.663C>T (p.Ile221=)
NM_000127.3(EXT1):c.668C>T (p.Thr223Ile)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter) rs764093488
NM_000127.3(EXT1):c.674del (p.Asn225fs) rs1817873681
NM_000127.3(EXT1):c.678C>T (p.Phe226=)
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter) rs1817873582
NM_000127.3(EXT1):c.686dup (p.Asn229fs) rs1817873443
NM_000127.3(EXT1):c.692A>T (p.Asp231Val)
NM_000127.3(EXT1):c.692_694del (p.Asp231del) rs1817873196
NM_000127.3(EXT1):c.698del (p.Ser233fs) rs1817872999
NM_000127.3(EXT1):c.69C>A (p.Phe23Leu)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg) rs1817893036
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer) rs2130042109
NM_000127.3(EXT1):c.712del (p.Ser238fs)
NM_000127.3(EXT1):c.713del (p.Ser238fs) rs2130042099
NM_000127.3(EXT1):c.718G>C (p.Asp240His)
NM_000127.3(EXT1):c.726C>T (p.Pro242=)
NM_000127.3(EXT1):c.739G>A (p.Glu247Lys)
NM_000127.3(EXT1):c.739G>T (p.Glu247Ter)
NM_000127.3(EXT1):c.73G>C (p.Gly25Arg)
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer) rs1817872132
NM_000127.3(EXT1):c.747dup (p.Phe250fs) rs1817872132
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer) rs2130041954
NM_000127.3(EXT1):c.756del (p.Lys252fs)
NM_000127.3(EXT1):c.757_760dup (p.Asn254fs)
NM_000127.3(EXT1):c.764C>A (p.Thr255Asn)
NM_000127.3(EXT1):c.765C>G (p.Thr255=)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser) rs1817871592
NM_000127.3(EXT1):c.770del (p.Pro257fs) rs2130041891
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs) rs1817871338
NM_000127.3(EXT1):c.773C>A (p.Pro258His) rs2130041856
NM_000127.3(EXT1):c.773_777del (p.Pro258fs) rs2130041831
NM_000127.3(EXT1):c.774T>A (p.Pro258=)
NM_000127.3(EXT1):c.783G>A (p.Lys261=)
NM_000127.3(EXT1):c.787del (p.Met263fs) rs2130041790
NM_000127.3(EXT1):c.791T>G (p.Leu264Arg) rs377162411
NM_000127.3(EXT1):c.792G>A (p.Leu264=)
NM_000127.3(EXT1):c.796T>A (p.Phe266Ile) rs2130041754
NM_000127.3(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter) rs1817892723
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.802G>C (p.Gly268Arg) rs1554601492
NM_000127.3(EXT1):c.803G>A (p.Gly268Glu) rs886039352
NM_000127.3(EXT1):c.803G>T (p.Gly268Val) rs886039352
NM_000127.3(EXT1):c.809G>C (p.Arg270Thr)
NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys) rs1064793786
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs) rs1817870176
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer) rs1817870237
NM_000127.3(EXT1):c.830C>G (p.Ser277Ter)
NM_000127.3(EXT1):c.832G>T (p.Asp278Tyr) rs2130041549
NM_000127.3(EXT1):c.837dup (p.Arg280fs) rs2130041540
NM_000127.3(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.3(EXT1):c.838A>T (p.Arg280Trp)
NM_000127.3(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.3(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.3(EXT1):c.842A>C (p.Asn281Thr)
NM_000127.3(EXT1):c.845C>T (p.Ala282Val)
NM_000127.3(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.3(EXT1):c.850T>C (p.Tyr284His)
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.3(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.3(EXT1):c.855C>T (p.His285=)
NM_000127.3(EXT1):c.856G>C (p.Val286Leu)
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter) rs759708614
NM_000127.3(EXT1):c.871G>A (p.Asp291Asn)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu) rs372750330
NM_000127.3(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser) rs1817868656
NM_000127.3(EXT1):c.905A>G (p.Lys302Arg)
NM_000127.3(EXT1):c.907del (p.Asp303fs) rs2130041164
NM_000127.3(EXT1):c.910T>A (p.Trp304Arg) rs1413726979
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter) rs1817868370
NM_000127.3(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg) rs1817867776
NM_000127.3(EXT1):c.934_936del (p.Cys312del) rs1817867722
NM_000127.3(EXT1):c.947A>G (p.Asn316Ser)
NM_000127.3(EXT1):c.949del (p.Thr317fs)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser) rs748945641
NM_000127.3(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter) rs1817866954
NM_000127.3(EXT1):c.962+17del
NM_000127.3(EXT1):c.962+18C>T
NM_000127.3(EXT1):c.962+1G>A rs886039353
NM_000127.3(EXT1):c.962+1G>C rs886039353
NM_000127.3(EXT1):c.962+1G>T rs886039353
NM_000127.3(EXT1):c.962+5G>C
NM_000127.3(EXT1):c.962+7G>A rs778490814
NM_000127.3(EXT1):c.962+8_962+11del rs138812713
NM_000127.3(EXT1):c.962A>G (p.Lys321Arg)
NM_000127.3(EXT1):c.963-13C>T
NM_000127.3(EXT1):c.963-14T>G
NM_000127.3(EXT1):c.963-15C>T
NM_000127.3(EXT1):c.963-2A>G rs1554580162
NM_000127.3(EXT1):c.963-7dup rs2129791582
NM_000127.3(EXT1):c.963G>A (p.Lys321=)
NM_000127.3(EXT1):c.969T>C (p.Asp323=)
NM_000127.3(EXT1):c.96G>A (p.Arg32=)
NM_000127.3(EXT1):c.978A>G (p.Glu326=) rs2129791475
NM_000127.3(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.98G>A (p.Ser33Asn)
NM_000127.3(EXT1):c.992C>A (p.Ala331Asp) rs1554580153
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer) rs2129791337
NM_000127.3(EXT1):c.999C>A (p.Phe333Leu)
NM_002334.4(LRP4):c.1009T>G (p.Cys337Gly)
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
NM_002334.4(LRP4):c.1029A>G (p.Glu343=) rs761739869
NM_002334.4(LRP4):c.1048+13A>G
NM_002334.4(LRP4):c.1049-10G>C rs2134853583
NM_002334.4(LRP4):c.1049-20C>T
NM_002334.4(LRP4):c.1060G>A (p.Gly354Ser)
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
NM_002334.4(LRP4):c.1076A>T (p.Asn359Ile)
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
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.1123_1126dup (p.Val376fs)
NM_002334.4(LRP4):c.1126G>A (p.Val376Met) rs1243051904
NM_002334.4(LRP4):c.1146A>G (p.Thr382=) rs2134853133
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
NM_002334.4(LRP4):c.1184-18C>T
NM_002334.4(LRP4):c.1184-2A>G
NM_002334.4(LRP4):c.1184-5C>T
NM_002334.4(LRP4):c.1187T>A (p.Val396Glu) rs2134851507
NM_002334.4(LRP4):c.1218C>T (p.Ser406=) rs2134851406
NM_002334.4(LRP4):c.1222G>A (p.Gly408Ser)
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
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.1302G>A (p.Lys434=)
NM_002334.4(LRP4):c.1306C>T (p.Leu436=) rs368827270
NM_002334.4(LRP4):c.1309+5G>C
NM_002334.4(LRP4):c.1310-3C>T rs1941491191
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
NM_002334.4(LRP4):c.1333G>A (p.Ala445Thr) rs1023257694
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
NM_002334.4(LRP4):c.1366C>T (p.His456Tyr) rs1555174047
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
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.1503C>T (p.Asn501=)
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
NM_002334.4(LRP4):c.1535G>T (p.Ser512Ile) rs769948678
NM_002334.4(LRP4):c.1540+13G>A
NM_002334.4(LRP4):c.1540+17C>A
NM_002334.4(LRP4):c.1540+18A>G
NM_002334.4(LRP4):c.1540+3A>G rs2134849214
NM_002334.4(LRP4):c.1540+9C>T
NM_002334.4(LRP4):c.1541-16T>C
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
NM_002334.4(LRP4):c.1546C>T (p.Leu516=) rs1592539185
NM_002334.4(LRP4):c.1560G>C (p.Trp520Cys)
NM_002334.4(LRP4):c.1584C>A (p.Thr528=) rs574108233
NM_002334.4(LRP4):c.1623_1624inv (p.Gly542Arg)
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
NM_002334.4(LRP4):c.1627G>A (p.Ala543Thr)
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
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.1697+19T>C
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.1755T>C (p.Asp585=)
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
NM_002334.4(LRP4):c.1760C>G (p.Ser587Cys)
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
NM_002334.4(LRP4):c.1765C>T (p.Arg589Cys)
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
NM_002334.4(LRP4):c.1834A>T (p.Met612Leu)
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
NM_002334.4(LRP4):c.184G>A (p.Asp62Asn)
NM_002334.4(LRP4):c.1850del (p.Ala617fs)
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
NM_002334.4(LRP4):c.1855C>T (p.His619Tyr)
NM_002334.4(LRP4):c.1915+8C>A
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
NM_002334.4(LRP4):c.1985G>A (p.Ser662Asn)
NM_002334.4(LRP4):c.199+12C>T
NM_002334.4(LRP4):c.1990A>G (p.Asn664Asp) rs1190494235
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
NM_002334.4(LRP4):c.200-26TTTTC[2] rs760673637
NM_002334.4(LRP4):c.200-26TTTTC[4]
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
NM_002334.4(LRP4):c.2026A>C (p.Ile676Leu)
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
NM_002334.4(LRP4):c.2028C>T (p.Ile676=) rs1941385384
NM_002334.4(LRP4):c.2032C>T (p.Arg678Cys)
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
NM_002334.4(LRP4):c.2070G>C (p.Leu690Phe) rs2134837991
NM_002334.4(LRP4):c.2073C>T (p.His691=)
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+12C>T
NM_002334.4(LRP4):c.2092+18G>A
NM_002334.4(LRP4):c.2092+20G>C
NM_002334.4(LRP4):c.2092+5A>G
NM_002334.4(LRP4):c.2093-15dup rs375880498
NM_002334.4(LRP4):c.2093-19C>T rs1181290875
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.2130G>A (p.Thr710=) rs199674492
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
NM_002334.4(LRP4):c.2175C>T (p.Pro725=) rs369705661
NM_002334.4(LRP4):c.2178T>G (p.Thr726=) rs1941371842
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.2216-18C>T
NM_002334.4(LRP4):c.2216-20C>A
NM_002334.4(LRP4):c.2226G>C (p.Lys742Asn)
NM_002334.4(LRP4):c.2258G>A (p.Arg753His)
NM_002334.4(LRP4):c.225C>T (p.Asp75=) rs1023732809
NM_002334.4(LRP4):c.2260C>T (p.Arg754Ter) rs1565790767
NM_002334.4(LRP4):c.2261G>A (p.Arg754Gln)
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
NM_002334.4(LRP4):c.229C>A (p.His77Asn)
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
NM_002334.4(LRP4):c.230A>G (p.His77Arg)
NM_002334.4(LRP4):c.2321G>A (p.Ser774Asn)
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
NM_002334.4(LRP4):c.2348G>A (p.Arg783Gln)
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
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.2425-19A>G rs2134827879
NM_002334.4(LRP4):c.2425-6G>T rs1592532832
NM_002334.4(LRP4):c.2442T>C (p.Ser814=) rs2134827694
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=) rs2134827587
NM_002334.4(LRP4):c.2498del (p.Thr833fs)
NM_002334.4(LRP4):c.2506+8T>C
NM_002334.4(LRP4):c.2507-1G>A
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.2592C>T (p.Ile864=)
NM_002334.4(LRP4):c.2607G>C (p.Met869Ile) rs1370824030
NM_002334.4(LRP4):c.2611G>A (p.Gly871Arg)
NM_002334.4(LRP4):c.2612+12C>T
NM_002334.4(LRP4):c.2612+15C>T rs926960884
NM_002334.4(LRP4):c.2613-11C>A
NM_002334.4(LRP4):c.2613-11_2613-7dup
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.276G>A (p.Gly92=)
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.2794C>T (p.Leu932=)
NM_002334.4(LRP4):c.2814+10del rs534937304
NM_002334.4(LRP4):c.2814+13_2814+35del
NM_002334.4(LRP4):c.2814+17_2814+39del
NM_002334.4(LRP4):c.2814+9G>A
NM_002334.4(LRP4):c.2815-11G>T
NM_002334.4(LRP4):c.2815-16G>A rs1941096408
NM_002334.4(LRP4):c.2815-20_2815-17dup
NM_002334.4(LRP4):c.2830C>T (p.Gln944Ter) rs1218582533
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
NM_002334.4(LRP4):c.2835C>G (p.Leu945=) rs201362411
NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter) rs1565785959
NM_002334.4(LRP4):c.2869C>T (p.Arg957Cys)
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
NM_002334.4(LRP4):c.2911G>A (p.Ala971Thr)
NM_002334.4(LRP4):c.2918G>A (p.Arg973Gln)
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
NM_002334.4(LRP4):c.2936G>A (p.Arg979Gln)
NM_002334.4(LRP4):c.2958G>A (p.Leu986=) rs541593593
NM_002334.4(LRP4):c.2979T>C (p.His993=)
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.3004+13T>C
NM_002334.4(LRP4):c.3004+14G>C
NM_002334.4(LRP4):c.3004+18C>A rs2306028
NM_002334.4(LRP4):c.3004+18C>T rs2306028
NM_002334.4(LRP4):c.3004+19G>A
NM_002334.4(LRP4):c.3005-12C>T
NM_002334.4(LRP4):c.3005-4C>T
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
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.3045C>T (p.His1015=) rs2134807034
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.306G>A (p.Glu102=)
NM_002334.4(LRP4):c.3100A>G (p.Ile1034Val)
NM_002334.4(LRP4):c.310G>A (p.Asp104Asn) rs2134865411
NM_002334.4(LRP4):c.3136+16A>G
NM_002334.4(LRP4):c.3137-13C>T
NM_002334.4(LRP4):c.3137-15del rs2134802550
NM_002334.4(LRP4):c.3137-4G>A
NM_002334.4(LRP4):c.3137-4G>C
NM_002334.4(LRP4):c.3141G>A (p.Met1047Ile) rs2134802507
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=) rs2134802462
NM_002334.4(LRP4):c.3151C>T (p.Leu1051Phe)
NM_002334.4(LRP4):c.317-12C>G
NM_002334.4(LRP4):c.317-19G>A
NM_002334.4(LRP4):c.3199C>T (p.Pro1067Ser)
NM_002334.4(LRP4):c.320C>T (p.Pro107Leu) rs2134864767
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
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.3278-8C>T rs1941033938
NM_002334.4(LRP4):c.3292T>A (p.Ser1098Thr)
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
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+11C>T
NM_002334.4(LRP4):c.3364+17G>T
NM_002334.4(LRP4):c.3364+3G>A
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=) rs2134800312
NM_002334.4(LRP4):c.3389C>T (p.Ala1130Val)
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
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.3528T>C (p.His1176=)
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA rs2134799662
NM_002334.4(LRP4):c.3536+16A>T
NM_002334.4(LRP4):c.3536+18C>T
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.3597C>T (p.Gly1199=)
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
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.3673C>T (p.Leu1225=)
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
NM_002334.4(LRP4):c.3697G>A (p.Glu1233Lys) rs786205153
NM_002334.4(LRP4):c.3699+13T>C
NM_002334.4(LRP4):c.3699+19C>T
NM_002334.4(LRP4):c.3699+1G>A
NM_002334.4(LRP4):c.3699+8C>T
NM_002334.4(LRP4):c.3699+9C>A
NM_002334.4(LRP4):c.3699+9C>T
NM_002334.4(LRP4):c.3700-10T>C rs975882066
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=) rs2134797059
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
NM_002334.4(LRP4):c.3829C>T (p.Arg1277Cys)
NM_002334.4(LRP4):c.3844A>C (p.Thr1282Pro)
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
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.3926-17G>A
NM_002334.4(LRP4):c.3926-5A>G
NM_002334.4(LRP4):c.3955G>A (p.Gly1319Ser) rs756790038
NM_002334.4(LRP4):c.3979C>T (p.Arg1327Trp)
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=) rs2134794190
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=) rs2134794079
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
NM_002334.4(LRP4):c.4102T>C (p.Ser1368Pro) rs1565782170
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=) rs371098163
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.4149G>A (p.Glu1383=) rs1181126034
NM_002334.4(LRP4):c.4175A>G (p.Tyr1392Cys) rs2134793655
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
NM_002334.4(LRP4):c.4229+11C>T
NM_002334.4(LRP4):c.4229+15G>A
NM_002334.4(LRP4):c.4229+20C>G
NM_002334.4(LRP4):c.4229+4T>C rs1836121973
NM_002334.4(LRP4):c.4230-10T>C rs1940930151
NM_002334.4(LRP4):c.4230-12G>A
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.4278G>A (p.Gly1426=) rs1940926502
NM_002334.4(LRP4):c.430+4G>A
NM_002334.4(LRP4):c.431-3del rs562071882
NM_002334.4(LRP4):c.431-9T>A rs1941620373
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
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.4400dup (p.Asn1467fs)
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
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.4485G>A (p.Lys1495=)
NM_002334.4(LRP4):c.4513G>C (p.Glu1505Gln)
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
NM_002334.4(LRP4):c.4577C>T (p.Thr1526Ile)
NM_002334.4(LRP4):c.4584-14_4584-10del rs748959880
NM_002334.4(LRP4):c.4584-16_4584-15del rs768340393
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
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.4693-11C>T rs1409382852
NM_002334.4(LRP4):c.4693-12C>G
NM_002334.4(LRP4):c.4693-12C>T
NM_002334.4(LRP4):c.4693-16T>C rs2134778241
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.4728C>T (p.Thr1576=) rs200270681
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
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.4837+8C>G rs1243774066
NM_002334.4(LRP4):c.4837G>A (p.Gly1613Arg) rs1940786470
NM_002334.4(LRP4):c.4838-8G>A
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=) rs2134776744
NM_002334.4(LRP4):c.4850G>A (p.Cys1617Tyr) rs1592515719
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.489G>A (p.Glu163=) rs1941618309
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>A (p.Arg1646Gln) rs3816614
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.4952-10T>C
NM_002334.4(LRP4):c.4952-17T>C
NM_002334.4(LRP4):c.4952-19A>G rs772798728
NM_002334.4(LRP4):c.4952-20C>A
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.5016C>A (p.Pro1672=) rs2134774940
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
NM_002334.4(LRP4):c.5060G>A (p.Arg1687His) rs751407728
NM_002334.4(LRP4):c.507T>A (p.Gly169=) rs2134863376
NM_002334.4(LRP4):c.5087+12C>T
NM_002334.4(LRP4):c.5087+13A>G
NM_002334.4(LRP4):c.5087+14A>T rs376251083
NM_002334.4(LRP4):c.5088-6C>T
NM_002334.4(LRP4):c.5109G>T (p.Arg1703Ser)
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
NM_002334.4(LRP4):c.5113G>A (p.Gly1705Ser)
NM_002334.4(LRP4):c.5126G>C (p.Arg1709Pro) rs560103351
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
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.5155+16C>T
NM_002334.4(LRP4):c.5155+20C>G
NM_002334.4(LRP4):c.5156-11A>G
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.5244-6C>T
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.5265T>G (p.Thr1755=)
NM_002334.4(LRP4):c.5283C>A (p.Asn1761Lys)
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=) rs2134760244
NM_002334.4(LRP4):c.53-12C>G
NM_002334.4(LRP4):c.53-15T>C
NM_002334.4(LRP4):c.53-6G>A
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=) rs750830696
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
NM_002334.4(LRP4):c.5357T>C (p.Met1786Thr)
NM_002334.4(LRP4):c.5386-12T>C
NM_002334.4(LRP4):c.5386-4C>G
NM_002334.4(LRP4):c.5402A>G (p.Asn1801Ser)
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
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.547+14G>A
NM_002334.4(LRP4):c.547+14G>C rs1243797516
NM_002334.4(LRP4):c.547+1G>A rs762425885
NM_002334.4(LRP4):c.548-18C>G rs779705585
NM_002334.4(LRP4):c.548-19A>T
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=) rs911721294
NM_002334.4(LRP4):c.5498G>T (p.Arg1833Leu)
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=) rs2134750971
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.5505C>G (p.Gly1835=)
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.5508C>T (p.Leu1836=)
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.5532G>A (p.Lys1844=)
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
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.5610G>A (p.Gln1870=)
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
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.5715C>G (p.Val1905=) rs2134750322
NM_002334.4(LRP4):c.591G>A (p.Gln197=) rs1199299804
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
NM_002334.4(LRP4):c.611T>C (p.Ile204Thr) rs2134862174
NM_002334.4(LRP4):c.616G>A (p.Asp206Asn)
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
NM_002334.4(LRP4):c.637G>A (p.Asp213Asn)
NM_002334.4(LRP4):c.664G>A (p.Glu222Lys)
NM_002334.4(LRP4):c.677-13T>C
NM_002334.4(LRP4):c.677-6C>T
NM_002334.4(LRP4):c.677-7T>G rs1244833731
NM_002334.4(LRP4):c.682C>T (p.His228Tyr) rs2134861515
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
NM_002334.4(LRP4):c.69C>T (p.Pro23=) rs370359994
NM_002334.4(LRP4):c.708C>T (p.Phe236=) rs2134861393
NM_002334.4(LRP4):c.713G>A (p.Cys238Tyr) rs770285774
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
NM_002334.4(LRP4):c.774C>T (p.Asp258=) rs2134861192
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
NM_002334.4(LRP4):c.796+18A>T
NM_002334.4(LRP4):c.796+20T>C
NM_002334.4(LRP4):c.796+7G>A
NM_002334.4(LRP4):c.797-3C>T rs1941546855
NM_002334.4(LRP4):c.798C>T (p.Thr266=) rs2134856058
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.873G>A (p.Gly291=)
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
NM_002334.4(LRP4):c.887C>G (p.Ala296Gly) rs1941543958
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
NM_002334.4(LRP4):c.898G>A (p.Asp300Asn)
NM_002334.4(LRP4):c.922+13G>C
NM_002334.4(LRP4):c.923-11C>T
NM_002334.4(LRP4):c.923-14del
NM_002334.4(LRP4):c.923-8C>T
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_002334.4(LRP4):c.996C>T (p.Asn332=)
NM_003900.5(SQSTM1):c.*2_*4del (p.Ter441=) rs765964997
NM_003900.5(SQSTM1):c.1001G>A (p.Gly334Glu)
NM_003900.5(SQSTM1):c.1002A>T (p.Gly334=)
NM_003900.5(SQSTM1):c.1005TGA[1] (p.Asp337del)
NM_003900.5(SQSTM1):c.1006G>A (p.Asp336Asn) rs1554091442
NM_003900.5(SQSTM1):c.1008T>C (p.Asp336=)
NM_003900.5(SQSTM1):c.1014G>C (p.Trp338Cys)
NM_003900.5(SQSTM1):c.1030A>C (p.Lys344Gln) rs1554091448
NM_003900.5(SQSTM1):c.1039G>A (p.Asp347Asn)
NM_003900.5(SQSTM1):c.1045T>A (p.Ser349Thr) rs774512680
NM_003900.5(SQSTM1):c.1049C>G (p.Thr350Arg)
NM_003900.5(SQSTM1):c.104C>G (p.Ala35Gly)
NM_003900.5(SQSTM1):c.1050A>C (p.Thr350=) rs2113512674
NM_003900.5(SQSTM1):c.1054G>C (p.Glu352Gln) rs765610848
NM_003900.5(SQSTM1):c.1054G>T (p.Glu352Ter) rs765610848
NM_003900.5(SQSTM1):c.1058T>C (p.Leu353Pro)
NM_003900.5(SQSTM1):c.1060C>A (p.Gln354Lys)
NM_003900.5(SQSTM1):c.1060del (p.Gln354fs) rs1758356210
NM_003900.5(SQSTM1):c.1062G>C (p.Gln354His)
NM_003900.5(SQSTM1):c.1062G>T (p.Gln354His)
NM_003900.5(SQSTM1):c.1069C>G (p.Gln357Glu) rs2113512735
NM_003900.5(SQSTM1):c.1070A>G (p.Gln357Arg)
NM_003900.5(SQSTM1):c.1071G>T (p.Gln357His)
NM_003900.5(SQSTM1):c.1072A>G (p.Met358Val) rs2113512757
NM_003900.5(SQSTM1):c.1074G>A (p.Met358Ile)
NM_003900.5(SQSTM1):c.1081T>G (p.Ser361Ala)
NM_003900.5(SQSTM1):c.1087G>A (p.Gly363Arg)
NM_003900.5(SQSTM1):c.1089G>A (p.Gly363=) rs2113512810
NM_003900.5(SQSTM1):c.1095C>T (p.Ser365=)
NM_003900.5(SQSTM1):c.1097C>G (p.Ser366Cys) rs1582022482
NM_003900.5(SQSTM1):c.109_115delinsC (p.Ala37_Ala39delinsPro)
NM_003900.5(SQSTM1):c.1104C>A (p.Asp368Glu)
NM_003900.5(SQSTM1):c.1109C>T (p.Ser370Phe) rs2113512860
NM_003900.5(SQSTM1):c.1111C>A (p.Gln371Lys)
NM_003900.5(SQSTM1):c.1111C>T (p.Gln371Ter)
NM_003900.5(SQSTM1):c.1128G>A (p.Gly376=) rs569052431
NM_003900.5(SQSTM1):c.1129C>G (p.Leu377Val)
NM_003900.5(SQSTM1):c.1134G>A (p.Lys378=) rs778833279
NM_003900.5(SQSTM1):c.113C>A (p.Ala38Glu) rs1298281008
NM_003900.5(SQSTM1):c.1146G>A (p.Leu382=)
NM_003900.5(SQSTM1):c.1147T>C (p.Tyr383His)
NM_003900.5(SQSTM1):c.1149C>T (p.Tyr383=)
NM_003900.5(SQSTM1):c.114G>T (p.Ala38=)
NM_003900.5(SQSTM1):c.1150C>G (p.Pro384Ala)
NM_003900.5(SQSTM1):c.1150C>T (p.Pro384Ser)
NM_003900.5(SQSTM1):c.1151C>T (p.Pro384Leu)
NM_003900.5(SQSTM1):c.1152A>C (p.Pro384=) rs944423329
NM_003900.5(SQSTM1):c.1152A>G (p.Pro384=)
NM_003900.5(SQSTM1):c.1154A>G (p.His385Arg) rs2113513106
NM_003900.5(SQSTM1):c.1156C>G (p.Leu386Val)
NM_003900.5(SQSTM1):c.1158C>T (p.Leu386=)
NM_003900.5(SQSTM1):c.1161G>A (p.Pro387=) rs372271201
NM_003900.5(SQSTM1):c.1161G>T (p.Pro387=)
NM_003900.5(SQSTM1):c.1165+10C>T
NM_003900.5(SQSTM1):c.1165+12A>G
NM_003900.5(SQSTM1):c.1165+7G>T
NM_003900.5(SQSTM1):c.1165+9del
NM_003900.5(SQSTM1):c.1166-12C>T rs201463748
NM_003900.5(SQSTM1):c.1166-14_1166-11del rs538853972
NM_003900.5(SQSTM1):c.1166-20C>T
NM_003900.5(SQSTM1):c.1166-2A>G
NM_003900.5(SQSTM1):c.1168G>A (p.Ala390Thr) rs2113524011
NM_003900.5(SQSTM1):c.1170T>C (p.Ala390=) rs1440412378
NM_003900.5(SQSTM1):c.1170del (p.Asp391fs) rs1758558921
NM_003900.5(SQSTM1):c.1171G>A (p.Asp391Asn) rs2113524028
NM_003900.5(SQSTM1):c.1172A>G (p.Asp391Gly)
NM_003900.5(SQSTM1):c.1175del (p.Pro392fs)
NM_003900.5(SQSTM1):c.117G>A (p.Ala39=) rs1449666849
NM_003900.5(SQSTM1):c.1181_*644del (p.Leu394fs)
NM_003900.5(SQSTM1):c.1184T>C (p.Ile395Thr) rs1471635040
NM_003900.5(SQSTM1):c.1185dup (p.Glu396Ter) rs1254158201
NM_003900.5(SQSTM1):c.1188G>A (p.Glu396=)
NM_003900.5(SQSTM1):c.1190C>A (p.Ser397Tyr)
NM_003900.5(SQSTM1):c.1198C>A (p.Gln400Lys)
NM_003900.5(SQSTM1):c.1200G>C (p.Gln400His)
NM_003900.5(SQSTM1):c.1201A>T (p.Met401Leu) rs201795943
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_003900.5(SQSTM1):c.1207T>G (p.Ser403Ala)
NM_003900.5(SQSTM1):c.1211T>C (p.Met404Thr) rs1247551175
NM_003900.5(SQSTM1):c.1215C>G (p.Gly405=) rs368933511
NM_003900.5(SQSTM1):c.121C>T (p.Pro41Ser) rs1377640860
NM_003900.5(SQSTM1):c.1237C>G (p.Leu413Val)
NM_003900.5(SQSTM1):c.1240A>T (p.Thr414Ser)
NM_003900.5(SQSTM1):c.1241C>T (p.Thr414Ile)
NM_003900.5(SQSTM1):c.1242C>A (p.Thr414=) rs1554092111
NM_003900.5(SQSTM1):c.1249C>T (p.Leu417=)
NM_003900.5(SQSTM1):c.1254G>C (p.Gln418His)
NM_003900.5(SQSTM1):c.1263C>T (p.Asn421=) rs1383894920
NM_003900.5(SQSTM1):c.1269C>T (p.Asp423=)
NM_003900.5(SQSTM1):c.1270A>G (p.Ile424Val)
NM_003900.5(SQSTM1):c.1276G>A (p.Ala426Thr) rs2113524491
NM_003900.5(SQSTM1):c.127C>T (p.Pro43Ser)
NM_003900.5(SQSTM1):c.1288A>C (p.Thr430Pro) rs770118706
NM_003900.5(SQSTM1):c.1297T>C (p.Tyr433His) rs2113524577
NM_003900.5(SQSTM1):c.1302A>C (p.Ser434=)
NM_003900.5(SQSTM1):c.1310C>T (p.Pro437Leu)
NM_003900.5(SQSTM1):c.1313C>G (p.Pro438Arg)
NM_003900.5(SQSTM1):c.1314G>C (p.Pro438=)
NM_003900.5(SQSTM1):c.1315C>T (p.Pro439Ser)
NM_003900.5(SQSTM1):c.1316dup (p.Leu440fs)
NM_003900.5(SQSTM1):c.1317G>A (p.Pro439=)
NM_003900.5(SQSTM1):c.1317G>C (p.Pro439=)
NM_003900.5(SQSTM1):c.1320G>A (p.Leu440=) rs753600779
NM_003900.5(SQSTM1):c.133G>C (p.Glu45Gln)
NM_003900.5(SQSTM1):c.136C>T (p.Arg46Trp)
NM_003900.5(SQSTM1):c.137G>C (p.Arg46Pro)
NM_003900.5(SQSTM1):c.147C>T (p.Ser49=) rs1258824064
NM_003900.5(SQSTM1):c.15C>T (p.Thr5=) rs756670021
NM_003900.5(SQSTM1):c.165C>T (p.Phe55=) rs886060501
NM_003900.5(SQSTM1):c.16G>T (p.Val6Leu) rs778461636
NM_003900.5(SQSTM1):c.171G>T (p.Ala57=)
NM_003900.5(SQSTM1):c.173_175del (p.Leu58del) rs2113480023
NM_003900.5(SQSTM1):c.178C>T (p.Pro60Ser) rs1411304344
NM_003900.5(SQSTM1):c.183C>A (p.Gly61=) rs767340839
NM_003900.5(SQSTM1):c.185_205+48delinsCACTACAGAGGTCCTGGTCTGTGCGGGGGCCTCCAGGCCTTCTGCGCTGCAGCCACTGCGCTGTGTCCCCTGTGATTGTCAATCTCCCTAAAGATGGCCCAGAGCAGTGCGGCCTGAATC
NM_003900.5(SQSTM1):c.186C>T (p.Gly62=)
NM_003900.5(SQSTM1):c.192G>A (p.Gln64=)
NM_003900.5(SQSTM1):c.193G>A (p.Ala65Thr)
NM_003900.5(SQSTM1):c.194C>A (p.Ala65Glu)
NM_003900.5(SQSTM1):c.195G>T (p.Ala65=)
NM_003900.5(SQSTM1):c.205+11C>G
NM_003900.5(SQSTM1):c.205+12G>C rs869101530
NM_003900.5(SQSTM1):c.205+12G>T rs869101530
NM_003900.5(SQSTM1):c.205+14G>A
NM_003900.5(SQSTM1):c.205+14G>C
NM_003900.5(SQSTM1):c.205+16A>C
NM_003900.5(SQSTM1):c.205+18C>G rs1757759662
NM_003900.5(SQSTM1):c.205+18C>T
NM_003900.5(SQSTM1):c.205+19G>T
NM_003900.5(SQSTM1):c.205+2T>C
NM_003900.5(SQSTM1):c.205+7G>A rs912066047
NM_003900.5(SQSTM1):c.205+7G>T
NM_003900.5(SQSTM1):c.206-11A>G
NM_003900.5(SQSTM1):c.206-2A>G
NM_003900.5(SQSTM1):c.206-4C>G rs370778198
NM_003900.5(SQSTM1):c.206-4C>T rs370778198
NM_003900.5(SQSTM1):c.206-7_206-4del rs779766449
NM_003900.5(SQSTM1):c.206-8C>T
NM_003900.5(SQSTM1):c.206-9A>G rs2113484953
NM_003900.5(SQSTM1):c.210G>C (p.Glu70Asp) rs2113484986
NM_003900.5(SQSTM1):c.211G>A (p.Asp71Asn)
NM_003900.5(SQSTM1):c.224T>C (p.Val75Ala) rs1757838607
NM_003900.5(SQSTM1):c.244G>T (p.Glu82Ter) rs1425863340
NM_003900.5(SQSTM1):c.24C>T (p.Ala8=)
NM_003900.5(SQSTM1):c.252A>C (p.Thr84=) rs752464933
NM_003900.5(SQSTM1):c.254T>C (p.Met85Thr)
NM_003900.5(SQSTM1):c.257C>A (p.Ala86Asp)
NM_003900.5(SQSTM1):c.259A>G (p.Met87Val)
NM_003900.5(SQSTM1):c.259_260insATGCCTTTTCCAGTGACGAGGAATTGACGAGGAAT (p.Met87fs)
NM_003900.5(SQSTM1):c.25T>C (p.Tyr9His)
NM_003900.5(SQSTM1):c.260T>C (p.Met87Thr)
NM_003900.5(SQSTM1):c.261G>A (p.Met87Ile) rs1274176534
NM_003900.5(SQSTM1):c.301+10T>A
NM_003900.5(SQSTM1):c.301+12C>T rs141530539
NM_003900.5(SQSTM1):c.301+13_301+24del rs1582006453
NM_003900.5(SQSTM1):c.301+1G>T rs2113485289
NM_003900.5(SQSTM1):c.301+20G>A
NM_003900.5(SQSTM1):c.301+6G>C
NM_003900.5(SQSTM1):c.302-10C>A
NM_003900.5(SQSTM1):c.302-10C>T
NM_003900.5(SQSTM1):c.302-11C>T
NM_003900.5(SQSTM1):c.302-13A>G
NM_003900.5(SQSTM1):c.302-15T>C
NM_003900.5(SQSTM1):c.302-20T>C
NM_003900.5(SQSTM1):c.302-4G>A rs1757883398
NM_003900.5(SQSTM1):c.309_311del (p.Glu104del) rs2113487449
NM_003900.5(SQSTM1):c.309dup (p.Glu104fs)
NM_003900.5(SQSTM1):c.312G>A (p.Glu104=)
NM_003900.5(SQSTM1):c.313T>G (p.Cys105Gly)
NM_003900.5(SQSTM1):c.316C>T (p.Arg106Trp) rs886060503
NM_003900.5(SQSTM1):c.31C>T (p.Leu11=)
NM_003900.5(SQSTM1):c.320G>A (p.Arg107Gln)
NM_003900.5(SQSTM1):c.327C>T (p.His109=) rs2113487546
NM_003900.5(SQSTM1):c.329G>A (p.Arg110His)
NM_003900.5(SQSTM1):c.333A>C (p.Pro111=)
NM_003900.5(SQSTM1):c.336G>A (p.Pro112=)
NM_003900.5(SQSTM1):c.339T>C (p.Cys113=)
NM_003900.5(SQSTM1):c.347A>G (p.Glu116Gly) rs1757886934
NM_003900.5(SQSTM1):c.34G>C (p.Gly12Arg)
NM_003900.5(SQSTM1):c.355C>G (p.Arg119Gly)
NM_003900.5(SQSTM1):c.356G>A (p.Arg119His)
NM_003900.5(SQSTM1):c.359A>T (p.Asn120Ile) rs1562654519
NM_003900.5(SQSTM1):c.35G>T (p.Gly12Val) rs866832054
NM_003900.5(SQSTM1):c.363G>A (p.Met121Ile)
NM_003900.5(SQSTM1):c.367C>T (p.His123Tyr)
NM_003900.5(SQSTM1):c.36C>G (p.Gly12=)
NM_003900.5(SQSTM1):c.36C>T (p.Gly12=)
NM_003900.5(SQSTM1):c.374A>T (p.Asn125Ile)
NM_003900.5(SQSTM1):c.375T>C (p.Asn125=) rs2113487764
NM_003900.5(SQSTM1):c.37A>G (p.Lys13Glu)
NM_003900.5(SQSTM1):c.381C>G (p.Ile127Met) rs1582007866
NM_003900.5(SQSTM1):c.385G>T (p.Asp129Tyr) rs753212399
NM_003900.5(SQSTM1):c.387T>C (p.Asp129=)
NM_003900.5(SQSTM1):c.389G>T (p.Gly130Val)
NM_003900.5(SQSTM1):c.392G>A (p.Cys131Tyr)
NM_003900.5(SQSTM1):c.395A>G (p.Asn132Ser)
NM_003900.5(SQSTM1):c.397G>A (p.Gly133Arg)
NM_003900.5(SQSTM1):c.3G>C (p.Met1Ile)
NM_003900.5(SQSTM1):c.401C>T (p.Pro134Leu) rs372480231
NM_003900.5(SQSTM1):c.402T>C (p.Pro134=)
NM_003900.5(SQSTM1):c.411A>G (p.Gly137=) rs2113487897
NM_003900.5(SQSTM1):c.415del (p.Arg139fs) rs2113487920
NM_003900.5(SQSTM1):c.429C>T (p.Ser143=) rs374417389
NM_003900.5(SQSTM1):c.434G>C (p.Cys145Ser)
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003900.5(SQSTM1):c.436_462dup (p.Cys154_Glu155insProAspTyrAspLeuCysSerValCys)
NM_003900.5(SQSTM1):c.43G>A (p.Asp15Asn)
NM_003900.5(SQSTM1):c.445G>A (p.Asp149Asn)
NM_003900.5(SQSTM1):c.451T>G (p.Cys151Gly)
NM_003900.5(SQSTM1):c.461G>T (p.Cys154Phe)
NM_003900.5(SQSTM1):c.462C>T (p.Cys154=) rs775988188
NM_003900.5(SQSTM1):c.463G>A (p.Glu155Lys)
NM_003900.5(SQSTM1):c.465G>A (p.Glu155=)
NM_003900.5(SQSTM1):c.46G>A (p.Ala16Thr) rs773552098
NM_003900.5(SQSTM1):c.473G>A (p.Gly158Asp)
NM_003900.5(SQSTM1):c.474C>T (p.Gly158=) rs35266480
NM_003900.5(SQSTM1):c.480C>T (p.His160=)
NM_003900.5(SQSTM1):c.482G>A (p.Arg161Gln) rs118160361
NM_003900.5(SQSTM1):c.482G>T (p.Arg161Leu)
NM_003900.5(SQSTM1):c.486G>A (p.Gly162=) rs1284664878
NM_003900.5(SQSTM1):c.489C>T (p.His163=)
NM_003900.5(SQSTM1):c.499G>A (p.Ala167Thr)
NM_003900.5(SQSTM1):c.499_504del (p.Ala167_Phe168del)
NM_003900.5(SQSTM1):c.509G>A (p.Ser170Asn)
NM_003900.5(SQSTM1):c.511C>A (p.Pro171Thr)
NM_003900.5(SQSTM1):c.515T>A (p.Phe172Tyr)
NM_003900.5(SQSTM1):c.522C>T (p.His174=)
NM_003900.5(SQSTM1):c.526_529del (p.Ser176fs) rs1331685476
NM_003900.5(SQSTM1):c.527C>G (p.Ser176Cys) rs1229776140
NM_003900.5(SQSTM1):c.529G>C (p.Glu177Gln)
NM_003900.5(SQSTM1):c.530A>C (p.Glu177Ala) rs1392938040
NM_003900.5(SQSTM1):c.531+14C>G
NM_003900.5(SQSTM1):c.531+15dup rs2113488538
NM_003900.5(SQSTM1):c.531+16G>A
NM_003900.5(SQSTM1):c.531+16G>T
NM_003900.5(SQSTM1):c.531+7A>G rs2113488503
NM_003900.5(SQSTM1):c.532-18T>C
NM_003900.5(SQSTM1):c.532-5C>T
NM_003900.5(SQSTM1):c.532-6C>T rs2113488787
NM_003900.5(SQSTM1):c.532-7C>A rs770329828
NM_003900.5(SQSTM1):c.532-9C>T
NM_003900.5(SQSTM1):c.539C>T (p.Ser180Leu)
NM_003900.5(SQSTM1):c.556C>T (p.Arg186Trp)
NM_003900.5(SQSTM1):c.561G>C (p.Lys187Asn) rs1757907176
NM_003900.5(SQSTM1):c.575A>G (p.His192Arg) rs1562655554
NM_003900.5(SQSTM1):c.579C>T (p.Phe193=)
NM_003900.5(SQSTM1):c.57G>A (p.Glu19=) rs1582002994
NM_003900.5(SQSTM1):c.580G>A (p.Gly194Arg)
NM_003900.5(SQSTM1):c.580G>C (p.Gly194Arg) rs373585056
NM_003900.5(SQSTM1):c.581G>A (p.Gly194Glu)
NM_003900.5(SQSTM1):c.588A>G (p.Pro196=)
NM_003900.5(SQSTM1):c.590G>A (p.Gly197Glu)
NM_003900.5(SQSTM1):c.5C>T (p.Ala2Val) rs377371202
NM_003900.5(SQSTM1):c.604C>T (p.Pro202Ser)
NM_003900.5(SQSTM1):c.606A>G (p.Pro202=) rs2113489068
NM_003900.5(SQSTM1):c.608C>A (p.Pro203Gln)
NM_003900.5(SQSTM1):c.608C>T (p.Pro203Leu)
NM_003900.5(SQSTM1):c.609A>G (p.Pro203=) rs1253593077
NM_003900.5(SQSTM1):c.615C>T (p.Asn205=) rs771036207
NM_003900.5(SQSTM1):c.620G>A (p.Ser207Asn)
NM_003900.5(SQSTM1):c.621C>T (p.Ser207=)
NM_003900.5(SQSTM1):c.622C>A (p.Pro208Thr) rs1256909021
NM_003900.5(SQSTM1):c.623C>T (p.Pro208Leu) rs1757909856
NM_003900.5(SQSTM1):c.626G>A (p.Arg209His) rs1303154345
NM_003900.5(SQSTM1):c.626G>C (p.Arg209Pro)
NM_003900.5(SQSTM1):c.628C>T (p.Pro210Ser) rs1370363543
NM_003900.5(SQSTM1):c.629CTC[1] (p.Pro211del) rs747274001
NM_003900.5(SQSTM1):c.631C>T (p.Pro211Ser)
NM_003900.5(SQSTM1):c.634C>G (p.Arg212Gly) rs201263163
NM_003900.5(SQSTM1):c.634C>T (p.Arg212Cys) rs201263163
NM_003900.5(SQSTM1):c.635G>A (p.Arg212His)
NM_003900.5(SQSTM1):c.635G>C (p.Arg212Pro)
NM_003900.5(SQSTM1):c.639A>G (p.Ala213=)
NM_003900.5(SQSTM1):c.654T>C (p.Pro218=) rs2113489256
NM_003900.5(SQSTM1):c.662C>T (p.Thr221Met) rs199663339
NM_003900.5(SQSTM1):c.673+15G>A
NM_003900.5(SQSTM1):c.673+19C>A
NM_003900.5(SQSTM1):c.673+19C>T
NM_003900.5(SQSTM1):c.673+9T>G rs2113489349
NM_003900.5(SQSTM1):c.674-11A>G
NM_003900.5(SQSTM1):c.674-13G>A rs2113491112
NM_003900.5(SQSTM1):c.674-18T>G rs1317780724
NM_003900.5(SQSTM1):c.674-5C>T
NM_003900.5(SQSTM1):c.674-7dup rs761346520
NM_003900.5(SQSTM1):c.674-8A>G
NM_003900.5(SQSTM1):c.677C>G (p.Ser226Cys)
NM_003900.5(SQSTM1):c.684A>G (p.Pro228=)
NM_003900.5(SQSTM1):c.687G>C (p.Ser229=) rs140341924
NM_003900.5(SQSTM1):c.698G>C (p.Ser233Thr)
NM_003900.5(SQSTM1):c.69C>T (p.Phe23=) rs766419538
NM_003900.5(SQSTM1):c.703A>G (p.Asn235Asp) rs1467107148
NM_003900.5(SQSTM1):c.705T>C (p.Asn235=)
NM_003900.5(SQSTM1):c.707T>G (p.Phe236Cys)
NM_003900.5(SQSTM1):c.711GAA[1] (p.Lys238del) rs796052214
NM_003900.5(SQSTM1):c.718G>A (p.Val240Ile)
NM_003900.5(SQSTM1):c.723G>A (p.Gly241=) rs889431769
NM_003900.5(SQSTM1):c.726G>A (p.Glu242=)
NM_003900.5(SQSTM1):c.728G>C (p.Ser243Thr)
NM_003900.5(SQSTM1):c.748C>T (p.Pro250Ser)
NM_003900.5(SQSTM1):c.751C>T (p.Leu251=)
NM_003900.5(SQSTM1):c.752T>C (p.Leu251Pro)
NM_003900.5(SQSTM1):c.754+11C>G
NM_003900.5(SQSTM1):c.754+11C>T
NM_003900.5(SQSTM1):c.754+13C>A rs1232662115
NM_003900.5(SQSTM1):c.754+18C>T
NM_003900.5(SQSTM1):c.754+5G>A
NM_003900.5(SQSTM1):c.755-12C>G
NM_003900.5(SQSTM1):c.755-12C>T rs1043468451
NM_003900.5(SQSTM1):c.755-13C>T
NM_003900.5(SQSTM1):c.755-20C>G
NM_003900.5(SQSTM1):c.755-4C>T
NM_003900.5(SQSTM1):c.755-6C>T
NM_003900.5(SQSTM1):c.755-8G>T rs369581639
NM_003900.5(SQSTM1):c.758T>C (p.Ile253Thr) rs753016349
NM_003900.5(SQSTM1):c.763G>A (p.Val255Ile) rs182522590
NM_003900.5(SQSTM1):c.763dup (p.Val255fs)
NM_003900.5(SQSTM1):c.766_767delinsCT (p.Asp256Leu)
NM_003900.5(SQSTM1):c.767A>C (p.Asp256Ala) rs988411948
NM_003900.5(SQSTM1):c.767A>G (p.Asp256Gly) rs988411948
NM_003900.5(SQSTM1):c.771C>G (p.Ile257Met) rs372827450
NM_003900.5(SQSTM1):c.771C>T (p.Ile257=) rs372827450
NM_003900.5(SQSTM1):c.785G>A (p.Gly262Glu)
NM_003900.5(SQSTM1):c.786A>G (p.Gly262=) rs1214357767
NM_003900.5(SQSTM1):c.78C>T (p.Cys26=) rs2113479661
NM_003900.5(SQSTM1):c.792AAG[1] (p.Arg265del)
NM_003900.5(SQSTM1):c.805A>T (p.Thr269Ser) rs745853858
NM_003900.5(SQSTM1):c.810del (p.Val271fs) rs1758316662
NM_003900.5(SQSTM1):c.815C>G (p.Ser272Cys)
NM_003900.5(SQSTM1):c.815_818del (p.Val271_Ser272insTer)
NM_003900.5(SQSTM1):c.820G>T (p.Glu274Ter)
NM_003900.5(SQSTM1):c.823A>T (p.Ser275Cys)
NM_003900.5(SQSTM1):c.823_824del (p.Ser275fs) rs1273214757
NM_003900.5(SQSTM1):c.827C>T (p.Ser276Phe) rs202119215
NM_003900.5(SQSTM1):c.829A>G (p.Ser277Gly) rs2113510695
NM_003900.5(SQSTM1):c.833C>T (p.Thr278Ile)
NM_003900.5(SQSTM1):c.835GAG[1] (p.Glu280del) rs752009611
NM_003900.5(SQSTM1):c.837G>A (p.Glu279=) rs2113510724
NM_003900.5(SQSTM1):c.848G>C (p.Ser283Thr) rs760785371
NM_003900.5(SQSTM1):c.84C>A (p.Ser28Arg) rs759823891
NM_003900.5(SQSTM1):c.84C>T (p.Ser28=)
NM_003900.5(SQSTM1):c.850T>A (p.Ser284Thr) rs764205744
NM_003900.5(SQSTM1):c.857C>T (p.Pro286Leu) rs754060027
NM_003900.5(SQSTM1):c.86C>G (p.Pro29Arg) rs1012113887
NM_003900.5(SQSTM1):c.885G>A (p.Lys295=) rs2113510916
NM_003900.5(SQSTM1):c.888G>T (p.Pro296=) rs148984239
NM_003900.5(SQSTM1):c.889G>C (p.Gly297Arg)
NM_003900.5(SQSTM1):c.88G>A (p.Glu30Lys) rs764111892
NM_003900.5(SQSTM1):c.892G>A (p.Gly298Arg) rs2113510972
NM_003900.5(SQSTM1):c.8C>T (p.Ser3Leu)
NM_003900.5(SQSTM1):c.901G>T (p.Glu301Ter)
NM_003900.5(SQSTM1):c.918T>C (p.Ser306=)
NM_003900.5(SQSTM1):c.919C>T (p.Leu307=)
NM_003900.5(SQSTM1):c.921G>A (p.Leu307=)
NM_003900.5(SQSTM1):c.923C>A (p.Ala308Glu)
NM_003900.5(SQSTM1):c.934A>C (p.Arg312=)
NM_003900.5(SQSTM1):c.936_937delinsAG (p.Lys313Glu)
NM_003900.5(SQSTM1):c.942C>G (p.Ile314Met) rs200695664
NM_003900.5(SQSTM1):c.944C>T (p.Ala315Val)
NM_003900.5(SQSTM1):c.956del (p.Glu319fs)
NM_003900.5(SQSTM1):c.960G>A (p.Gly320=)
NM_003900.5(SQSTM1):c.964C>A (p.Pro322Thr)
NM_003900.5(SQSTM1):c.969+14C>T
NM_003900.5(SQSTM1):c.969G>A (p.Glu323=) rs2113511316
NM_003900.5(SQSTM1):c.96G>A (p.Glu32=)
NM_003900.5(SQSTM1):c.970-13A>G rs1013927869
NM_003900.5(SQSTM1):c.970-2A>G rs2113512370
NM_003900.5(SQSTM1):c.970-4C>T
NM_003900.5(SQSTM1):c.970-8T>C
NM_003900.5(SQSTM1):c.970G>A (p.Glu324Lys) rs1436000961
NM_003900.5(SQSTM1):c.970del rs758377403
NM_003900.5(SQSTM1):c.973C>T (p.Gln325Ter)
NM_003900.5(SQSTM1):c.979G>A (p.Glu327Lys) rs1358261412
NM_003900.5(SQSTM1):c.979dup (p.Glu327fs)
NM_003900.5(SQSTM1):c.97G>A (p.Ala33Thr)
NM_003900.5(SQSTM1):c.983C>T (p.Ser328Leu)
NM_003900.5(SQSTM1):c.985G>A (p.Asp329Asn)
NM_003900.5(SQSTM1):c.988A>G (p.Asn330Asp)
NM_003900.5(SQSTM1):c.989A>C (p.Asn330Thr)
NM_003900.5(SQSTM1):c.98C>G (p.Ala33Gly)
NM_003900.5(SQSTM1):c.994T>A (p.Ser332Thr)
NM_003900.5(SQSTM1):c.995C>T (p.Ser332Leu) rs1185406298
NM_003900.5(SQSTM1):c.998GAG[1] (p.Gly334del) rs778047147
NM_003900.5(SQSTM1):c.9G>A (p.Ser3=)
NM_031471.6(FERMT3):c.100C>T (p.Leu34=)
NM_031471.6(FERMT3):c.1011G>A (p.Ser337=)
NM_031471.6(FERMT3):c.1029+11G>C
NM_031471.6(FERMT3):c.1029+20A>G
NM_031471.6(FERMT3):c.1029+2T>C rs1591038507
NM_031471.6(FERMT3):c.1029+6G>T
NM_031471.6(FERMT3):c.1030-12G>A
NM_031471.6(FERMT3):c.1030-16T>G
NM_031471.6(FERMT3):c.1030-20T>C rs2134881481
NM_031471.6(FERMT3):c.1030G>T (p.Asp344Tyr) rs1946632820
NM_031471.6(FERMT3):c.1042A>G (p.Thr348Ala) rs2134881583
NM_031471.6(FERMT3):c.104_105delinsTA (p.Arg35Leu) rs1946337090
NM_031471.6(FERMT3):c.1050A>G (p.Pro350=) rs2134881613
NM_031471.6(FERMT3):c.1070G>A (p.Arg357Gln)
NM_031471.6(FERMT3):c.1077T>G (p.Phe359Leu)
NM_031471.6(FERMT3):c.1079+10G>T
NM_031471.6(FERMT3):c.107T>C (p.Val36Ala)
NM_031471.6(FERMT3):c.1080-12C>T
NM_031471.6(FERMT3):c.1080-15C>T rs2134882329
NM_031471.6(FERMT3):c.1080-16C>G
NM_031471.6(FERMT3):c.1080-18C>A
NM_031471.6(FERMT3):c.1095C>T (p.Thr365=) rs2134882623
NM_031471.6(FERMT3):c.1104C>G (p.Gly368=) rs2134882687
NM_031471.6(FERMT3):c.111T>C (p.Thr37=)
NM_031471.6(FERMT3):c.1128C>T (p.Phe376=)
NM_031471.6(FERMT3):c.1139C>T (p.Thr380Ile) rs1946639980
NM_031471.6(FERMT3):c.113G>C (p.Gly38Ala) rs2134828211
NM_031471.6(FERMT3):c.1164C>T (p.Asp388=)
NM_031471.6(FERMT3):c.1170C>G (p.Ala390=)
NM_031471.6(FERMT3):c.1187A>G (p.Gln396Arg)
NM_031471.6(FERMT3):c.1192C>T (p.Leu398Phe) rs780759663
NM_031471.6(FERMT3):c.1202A>C (p.Lys401Thr)
NM_031471.6(FERMT3):c.1205-3C>T
NM_031471.6(FERMT3):c.1205-7C>T rs2134884288
NM_031471.6(FERMT3):c.1222G>A (p.Asp408Asn)
NM_031471.6(FERMT3):c.1230C>T (p.Asn410=)
NM_031471.6(FERMT3):c.124A>G (p.Ile42Val)
NM_031471.6(FERMT3):c.1311+10G>A
NM_031471.6(FERMT3):c.1311+11dup
NM_031471.6(FERMT3):c.1311+13_1311+29del
NM_031471.6(FERMT3):c.1311+6T>G
NM_031471.6(FERMT3):c.1311+9G>A rs111309375
NM_031471.6(FERMT3):c.1312-11del
NM_031471.6(FERMT3):c.1312-13C>T
NM_031471.6(FERMT3):c.1312-18C>T
NM_031471.6(FERMT3):c.1314G>A (p.Glu438=) rs2134885222
NM_031471.6(FERMT3):c.1352C>G (p.Ala451Gly)
NM_031471.6(FERMT3):c.1360G>A (p.Gly454Ser)
NM_031471.6(FERMT3):c.1362C>G (p.Gly454=) rs2134885437
NM_031471.6(FERMT3):c.1374C>G (p.Ala458=) rs762230079
NM_031471.6(FERMT3):c.1389C>T (p.Thr463=) rs753535248
NM_031471.6(FERMT3):c.138C>G (p.Leu46=) rs765072715
NM_031471.6(FERMT3):c.1392C>T (p.Ser464=)
NM_031471.6(FERMT3):c.1408C>T (p.Leu470=) rs751370857
NM_031471.6(FERMT3):c.140T>A (p.Leu47Gln) rs1946338724
NM_031471.6(FERMT3):c.1443G>C (p.Gly481=)
NM_031471.6(FERMT3):c.1448C>G (p.Pro483Arg)
NM_031471.6(FERMT3):c.144G>A (p.Lys48=) rs369062120
NM_031471.6(FERMT3):c.1454A>G (p.Asn485Ser)
NM_031471.6(FERMT3):c.1469_1504del (p.Pro490_Gly501del)
NM_031471.6(FERMT3):c.1471G>C (p.Asp491His) rs1203250020
NM_031471.6(FERMT3):c.1483G>A (p.Glu495Lys)
NM_031471.6(FERMT3):c.1497C>G (p.Pro499=) rs1400489114
NM_031471.6(FERMT3):c.1504C>T (p.Leu502Phe) rs773617643
NM_031471.6(FERMT3):c.1512C>T (p.Ala504=)
NM_031471.6(FERMT3):c.1516C>T (p.Arg506Cys) rs184091587
NM_031471.6(FERMT3):c.1520T>G (p.Phe507Cys) rs1267328953
NM_031471.6(FERMT3):c.1545+10G>A rs1591040541
NM_031471.6(FERMT3):c.1545+14T>C
NM_031471.6(FERMT3):c.1545+17G>C
NM_031471.6(FERMT3):c.1548C>A (p.Leu516=) rs777931977
NM_031471.6(FERMT3):c.155A>G (p.Gln52Arg)
NM_031471.6(FERMT3):c.1566A>T (p.Glu522Asp)
NM_031471.6(FERMT3):c.1578T>C (p.Asn526=) rs1288349776
NM_031471.6(FERMT3):c.1593G>A (p.Ser531=)
NM_031471.6(FERMT3):c.1593G>T (p.Ser531=)
NM_031471.6(FERMT3):c.1596G>A (p.Leu532=)
NM_031471.6(FERMT3):c.160+17C>G rs1009780479
NM_031471.6(FERMT3):c.161-16C>T
NM_031471.6(FERMT3):c.161-20T>C
NM_031471.6(FERMT3):c.1612C>T (p.Arg538Cys)
NM_031471.6(FERMT3):c.1613G>A (p.Arg538His) rs1205153436
NM_031471.6(FERMT3):c.1620C>T (p.Ile540=)
NM_031471.6(FERMT3):c.1634C>T (p.Ser545Phe)
NM_031471.6(FERMT3):c.163C>A (p.Arg55Ser) rs769352433
NM_031471.6(FERMT3):c.164G>A (p.Arg55His)
NM_031471.6(FERMT3):c.1650C>T (p.Gly550=) rs957232636
NM_031471.6(FERMT3):c.1658_1659del (p.Tyr553fs) rs1591041141
NM_031471.6(FERMT3):c.1670+10C>T rs2134888721
NM_031471.6(FERMT3):c.1670+19C>A
NM_031471.6(FERMT3):c.1671-15C>G rs78324705
NM_031471.6(FERMT3):c.1671-18T>A
NM_031471.6(FERMT3):c.1671-19C>G
NM_031471.6(FERMT3):c.1671-4_1671del
NM_031471.6(FERMT3):c.1686G>A (p.Arg562=)
NM_031471.6(FERMT3):c.1688A>G (p.Lys563Arg) rs754239815
NM_031471.6(FERMT3):c.1701G>A (p.Leu567=)
NM_031471.6(FERMT3):c.1712A>T (p.Asn571Ile) rs1946752193
NM_031471.6(FERMT3):c.1715A>G (p.Asn572Ser) rs867920578
NM_031471.6(FERMT3):c.1718G>A (p.Arg573Gln)
NM_031471.6(FERMT3):c.1725C>A (p.Ile575=)
NM_031471.6(FERMT3):c.1732G>A (p.Asp578Asn)
NM_031471.6(FERMT3):c.1740C>T (p.Ala580=)
NM_031471.6(FERMT3):c.1743G>T (p.Val581=) rs1565299087
NM_031471.6(FERMT3):c.1747G>A (p.Asp583Asn)
NM_031471.6(FERMT3):c.1766G>T (p.Arg589Leu)
NM_031471.6(FERMT3):c.1790del (p.Asn597fs)
NM_031471.6(FERMT3):c.1807C>T (p.Arg603Trp)
NM_031471.6(FERMT3):c.1812+12C>T rs1282201698
NM_031471.6(FERMT3):c.1812+13C>A
NM_031471.6(FERMT3):c.1812+18G>A rs756907795
NM_031471.6(FERMT3):c.1812+8C>T
NM_031471.6(FERMT3):c.1813-15_1813-14del rs528684268
NM_031471.6(FERMT3):c.1813-17C>T rs1419820066
NM_031471.6(FERMT3):c.1813G>A (p.Val605Met)
NM_031471.6(FERMT3):c.1839C>T (p.Ile613=)
NM_031471.6(FERMT3):c.1857C>T (p.Cys619=)
NM_031471.6(FERMT3):c.1866C>T (p.Ala622=) rs772395750
NM_031471.6(FERMT3):c.1867A>G (p.Ser623Gly) rs2134906064
NM_031471.6(FERMT3):c.1887G>C (p.Glu629Asp)
NM_031471.6(FERMT3):c.1889A>G (p.Tyr630Cys)
NM_031471.6(FERMT3):c.1894G>A (p.Gly632Arg)
NM_031471.6(FERMT3):c.1895G>T (p.Gly632Val) rs1565299599
NM_031471.6(FERMT3):c.18A>G (p.Thr6=)
NM_031471.6(FERMT3):c.1904T>A (p.Ile635Asn) rs2134906387
NM_031471.6(FERMT3):c.1907T>A (p.Phe636Tyr)
NM_031471.6(FERMT3):c.1908C>T (p.Phe636=)
NM_031471.6(FERMT3):c.1911G>A (p.Leu637=)
NM_031471.6(FERMT3):c.1913C>A (p.Ser638Ter)
NM_031471.6(FERMT3):c.1914G>A (p.Ser638=)
NM_031471.6(FERMT3):c.1914G>C (p.Ser638=) rs192928228
NM_031471.6(FERMT3):c.1917_1918delinsAG (p.Arg640Gly)
NM_031471.6(FERMT3):c.1918C>A (p.Arg640=)
NM_031471.6(FERMT3):c.1926G>C (p.Arg642=)
NM_031471.6(FERMT3):c.1931G>A (p.Arg644His) rs368565732
NM_031471.6(FERMT3):c.1931G>C (p.Arg644Pro) rs368565732
NM_031471.6(FERMT3):c.1954C>T (p.Leu652Phe)
NM_031471.6(FERMT3):c.1977C>T (p.Gly659=)
NM_031471.6(FERMT3):c.1979A>G (p.His660Arg)
NM_031471.6(FERMT3):c.213G>C (p.Gln71His)
NM_031471.6(FERMT3):c.219G>A (p.Leu73=) rs2134841789
NM_031471.6(FERMT3):c.228C>T (p.Thr76=)
NM_031471.6(FERMT3):c.24C>T (p.Ser8=) rs1258498079
NM_031471.6(FERMT3):c.258G>A (p.Leu86=)
NM_031471.6(FERMT3):c.25G>A (p.Gly9Arg) rs200509898
NM_031471.6(FERMT3):c.273C>T (p.Leu91=)
NM_031471.6(FERMT3):c.275T>G (p.Phe92Cys) rs1946416404
NM_031471.6(FERMT3):c.27G>T (p.Gly9=) rs147987989
NM_031471.6(FERMT3):c.294G>A (p.Arg98=)
NM_031471.6(FERMT3):c.2T>G (p.Met1Arg)
NM_031471.6(FERMT3):c.313C>T (p.Pro105Ser)
NM_031471.6(FERMT3):c.323G>A (p.Arg108His)
NM_031471.6(FERMT3):c.351C>G (p.Ser117=)
NM_031471.6(FERMT3):c.357C>T (p.Pro119=)
NM_031471.6(FERMT3):c.36C>T (p.Ile12=)
NM_031471.6(FERMT3):c.394+11C>T
NM_031471.6(FERMT3):c.394+19T>G
NM_031471.6(FERMT3):c.419C>T (p.Ser140Phe) rs1946424644
NM_031471.6(FERMT3):c.41C>G (p.Ser14Trp) rs778799174
NM_031471.6(FERMT3):c.420C>T (p.Ser140=)
NM_031471.6(FERMT3):c.429G>C (p.Arg143=) rs2134843708
NM_031471.6(FERMT3):c.431C>G (p.Ala144Gly)
NM_031471.6(FERMT3):c.435T>C (p.Pro145=) rs2134843748
NM_031471.6(FERMT3):c.439AAG[1] (p.Lys148del) rs776324976
NM_031471.6(FERMT3):c.444G>C (p.Lys148Asn)
NM_031471.6(FERMT3):c.445G>A (p.Glu149Lys) rs1189533527
NM_031471.6(FERMT3):c.447GAA[3] (p.Lys153del) rs759155629
NM_031471.6(FERMT3):c.45A>G (p.Ser15=)
NM_031471.6(FERMT3):c.46T>C (p.Trp16Arg)
NM_031471.6(FERMT3):c.479A>T (p.Glu160Val) rs2134843975
NM_031471.6(FERMT3):c.500T>C (p.Val167Ala) rs2134844071
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260
NM_031471.6(FERMT3):c.511G>A (p.Gly171Arg)
NM_031471.6(FERMT3):c.514+13G>T
NM_031471.6(FERMT3):c.514+15G>A
NM_031471.6(FERMT3):c.514+17G>A
NM_031471.6(FERMT3):c.514+20G>A
NM_031471.6(FERMT3):c.515-10T>G
NM_031471.6(FERMT3):c.515-16C>G
NM_031471.6(FERMT3):c.515-7A>T
NM_031471.6(FERMT3):c.521C>T (p.Ala174Val) rs2134845189
NM_031471.6(FERMT3):c.531G>C (p.Leu177=) rs1397774460
NM_031471.6(FERMT3):c.534C>T (p.Phe178=)
NM_031471.6(FERMT3):c.536G>T (p.Arg179Leu) rs778967874
NM_031471.6(FERMT3):c.540G>A (p.Gly180=)
NM_031471.6(FERMT3):c.540del (p.Met181fs) rs2134845306
NM_031471.6(FERMT3):c.544C>T (p.Pro182Ser)
NM_031471.6(FERMT3):c.552C>T (p.His184=) rs2134845391
NM_031471.6(FERMT3):c.560A>G (p.Asp187Gly) rs1946432873
NM_031471.6(FERMT3):c.564C>T (p.Ser188=)
NM_031471.6(FERMT3):c.56G>T (p.Arg19Leu) rs150500299
NM_031471.6(FERMT3):c.609G>A (p.Pro203=)
NM_031471.6(FERMT3):c.613C>A (p.Pro205Thr) rs2134845949
NM_031471.6(FERMT3):c.619C>G (p.Pro207Ala)
NM_031471.6(FERMT3):c.634C>T (p.Arg212Cys) rs369072342
NM_031471.6(FERMT3):c.643C>T (p.Arg215Trp)
NM_031471.6(FERMT3):c.644G>T (p.Arg215Leu) rs542357552
NM_031471.6(FERMT3):c.657G>A (p.Leu219=) rs2134846219
NM_031471.6(FERMT3):c.664_665del (p.Lys222fs) rs1591028090
NM_031471.6(FERMT3):c.683+19C>G rs759456987
NM_031471.6(FERMT3):c.683+5A>C rs1946435926
NM_031471.6(FERMT3):c.684-10C>G rs201247420
NM_031471.6(FERMT3):c.684-10C>T rs201247420
NM_031471.6(FERMT3):c.684-1G>A
NM_031471.6(FERMT3):c.684-6G>T
NM_031471.6(FERMT3):c.684-9G>A rs765206442
NM_031471.6(FERMT3):c.699G>T (p.Ser233=) rs750515226
NM_031471.6(FERMT3):c.700C>A (p.Arg234=) rs1260750258
NM_031471.6(FERMT3):c.700C>T (p.Arg234Trp)
NM_031471.6(FERMT3):c.702G>A (p.Arg234=) rs780592693
NM_031471.6(FERMT3):c.706C>T (p.Leu236Phe) rs1946443415
NM_031471.6(FERMT3):c.719G>A (p.Gly240Asp) rs2134847767
NM_031471.6(FERMT3):c.724A>G (p.Lys242Glu) rs1408986056
NM_031471.6(FERMT3):c.728C>G (p.Ala243Gly) rs1402606308
NM_031471.6(FERMT3):c.730G>A (p.Gly244Arg)
NM_031471.6(FERMT3):c.737C>T (p.Ala246Val)
NM_031471.6(FERMT3):c.748C>T (p.Arg250Cys)
NM_031471.6(FERMT3):c.749G>A (p.Arg250His)
NM_031471.6(FERMT3):c.749G>T (p.Arg250Leu)
NM_031471.6(FERMT3):c.74A>G (p.Glu25Gly) rs2134828037
NM_031471.6(FERMT3):c.756G>A (p.Lys252=) rs2134847985
NM_031471.6(FERMT3):c.765C>A (p.Ser255Arg) rs1359134455
NM_031471.6(FERMT3):c.771C>T (p.Phe257=) rs368973559
NM_031471.6(FERMT3):c.786+16G>A
NM_031471.6(FERMT3):c.786+18G>A
NM_031471.6(FERMT3):c.786+1G>T
NM_031471.6(FERMT3):c.787-10C>T
NM_031471.6(FERMT3):c.787-8C>A rs202116077
NM_031471.6(FERMT3):c.787-8C>G rs202116077
NM_031471.6(FERMT3):c.787-8C>T rs202116077
NM_031471.6(FERMT3):c.787-8del rs748191376
NM_031471.6(FERMT3):c.787-8dup rs748191376
NM_031471.6(FERMT3):c.787-9C>T rs1399195192
NM_031471.6(FERMT3):c.790G>C (p.Asp264His) rs1303226802
NM_031471.6(FERMT3):c.814dup (p.Tyr272fs) rs1591037806
NM_031471.6(FERMT3):c.834C>T (p.Asp278=)
NM_031471.6(FERMT3):c.843G>A (p.Leu281=)
NM_031471.6(FERMT3):c.847_853del (p.Glu283fs)
NM_031471.6(FERMT3):c.849G>T (p.Glu283Asp) rs568602034
NM_031471.6(FERMT3):c.861C>T (p.Thr287=)
NM_031471.6(FERMT3):c.862G>A (p.Glu288Lys) rs1294902127
NM_031471.6(FERMT3):c.87C>T (p.Ala29=)
NM_031471.6(FERMT3):c.886G>A (p.Ala296Thr) rs1030764940
NM_031471.6(FERMT3):c.891G>A (p.Leu297=) rs2134879914
NM_031471.6(FERMT3):c.894+20G>A
NM_031471.6(FERMT3):c.894+9C>A
NM_031471.6(FERMT3):c.894+9C>T rs377003245
NM_031471.6(FERMT3):c.895-19T>C rs1946625797
NM_031471.6(FERMT3):c.895-5C>T
NM_031471.6(FERMT3):c.90G>A (p.Glu30=)
NM_031471.6(FERMT3):c.912G>T (p.Leu304=) rs1946626509
NM_031471.6(FERMT3):c.930G>A (p.Val310=)
NM_031471.6(FERMT3):c.930G>T (p.Val310=) rs199508330
NM_031471.6(FERMT3):c.941C>T (p.Ala314Val) rs566565776
NM_031471.6(FERMT3):c.964G>A (p.Asp322Asn)
NM_031471.6(FERMT3):c.967C>G (p.Leu323Val) rs1177180183
NM_031471.6(FERMT3):c.984C>A (p.Ser328Arg)
NM_031471.6(FERMT3):c.987C>T (p.Asn329=)
NM_031471.6(FERMT3):c.992A>C (p.Glu331Ala) rs1591038431
NM_031471.6(FERMT3):c.9G>A (p.Gly3=)
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1002_1004dup (p.Leu335_Gln336insLeu)
NM_207122.2(EXT2):c.1003_1004insA (p.Leu335fs) rs2135020617
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter) rs1954414269
NM_207122.2(EXT2):c.1008A>G (p.Gln336=)
NM_207122.2(EXT2):c.1013del (p.Gly338fs) rs2135020654
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr) rs751598619
NM_207122.2(EXT2):c.1016G>C (p.Cys339Ser)
NM_207122.2(EXT2):c.1022C>G (p.Pro341Arg) rs141035971
NM_207122.2(EXT2):c.1024del (p.Val342fs) rs1954415156
NM_207122.2(EXT2):c.1026T>C (p.Val342=)
NM_207122.2(EXT2):c.1032T>G (p.Ile344Met) rs1954415349
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1040C>G (p.Ser347Cys)
NM_207122.2(EXT2):c.1042T>G (p.Tyr348Asp)
NM_207122.2(EXT2):c.1044T>A (p.Tyr348Ter)
NM_207122.2(EXT2):c.1044T>C (p.Tyr348=) rs2135020895
NM_207122.2(EXT2):c.1050G>T (p.Leu350Phe) rs747302075
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu) rs1954415964
NM_207122.2(EXT2):c.1056C>T (p.Phe352=)
NM_207122.2(EXT2):c.1066C>T (p.Leu356Phe)
NM_207122.2(EXT2):c.1072T>G (p.Trp358Gly) rs2135020999
NM_207122.2(EXT2):c.1074G>A (p.Trp358Ter) rs1450980907
NM_207122.2(EXT2):c.1079+13T>C
NM_207122.2(EXT2):c.1079+17A>G
NM_207122.2(EXT2):c.1079+1G>A rs1369420640
NM_207122.2(EXT2):c.1079+1G>T rs1369420640
NM_207122.2(EXT2):c.1080-14G>A
NM_207122.2(EXT2):c.1080-1G>A rs2135029007
NM_207122.2(EXT2):c.1080-1G>T rs2135029007
NM_207122.2(EXT2):c.1080-2A>G rs558968332
NM_207122.2(EXT2):c.1080-2del rs2135029005
NM_207122.2(EXT2):c.1083A>G (p.Ala361=)
NM_207122.2(EXT2):c.1085C>T (p.Ser362Phe)
NM_207122.2(EXT2):c.1102G>T (p.Glu368Ter)
NM_207122.2(EXT2):c.1104_1108del (p.Glu368fs)
NM_207122.2(EXT2):c.1117G>A (p.Val373Met) rs750547674
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs) rs1954470017
NM_207122.2(EXT2):c.1128T>C (p.Ile376=)
NM_207122.2(EXT2):c.1132C>T (p.Gln378Ter) rs1555006433
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter) rs1954470670
NM_207122.2(EXT2):c.1149A>G (p.Arg383=)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter) rs753083913
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg) rs1590575253
NM_207122.2(EXT2):c.1154T>C (p.Ile385Thr)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu) rs1203844985
NM_207122.2(EXT2):c.1167G>A (p.Gln389=) rs2135029434
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs) rs1954471038
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter) rs570580540
NM_207122.2(EXT2):c.1172_1173dup (p.Ala392fs)
NM_207122.2(EXT2):c.1173+17T>A
NM_207122.2(EXT2):c.1173+2T>A rs1565205890
NM_207122.2(EXT2):c.1173+8G>A
NM_207122.2(EXT2):c.1173+9C>T
NM_207122.2(EXT2):c.1174-14T>A
NM_207122.2(EXT2):c.1174-19A>G
NM_207122.2(EXT2):c.1174-2A>G
NM_207122.2(EXT2):c.1175C>A (p.Ala392Asp)
NM_207122.2(EXT2):c.117C>T (p.Ala39=) rs2134965644
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter) rs1191238988
NM_207122.2(EXT2):c.1186_1192del (p.Trp396fs)
NM_207122.2(EXT2):c.1187G>A (p.Trp396Ter) rs750542485
NM_207122.2(EXT2):c.1187G>C (p.Trp396Ser)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr) rs2135127641
NM_207122.2(EXT2):c.1197C>G (p.Tyr399Ter)
NM_207122.2(EXT2):c.1201del (p.Gln401fs) rs2135127698
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter) rs1955075568
NM_207122.2(EXT2):c.1211A>T (p.Lys404Ile)
NM_207122.2(EXT2):c.1221C>G (p.Ala407=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=) rs1315721028
NM_207122.2(EXT2):c.1223T>A (p.Leu408Gln)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly) rs1279920600
NM_207122.2(EXT2):c.1232_1234del (p.Leu411del)
NM_207122.2(EXT2):c.1233G>A (p.Leu411=)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter) rs1448103584
NM_207122.2(EXT2):c.1244A>G (p.Asn415Ser)
NM_207122.2(EXT2):c.1245del (p.Asn415fs)
NM_207122.2(EXT2):c.1248C>G (p.Asp416Glu)
NM_207122.2(EXT2):c.1250G>A (p.Arg417Gln) rs753542290
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter) rs1955076595
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1285T>G (p.Trp429Gly)
NM_207122.2(EXT2):c.1286G>A (p.Trp429Ter) rs2135128105
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter) rs1403873034
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer) rs1954079044
NM_207122.2(EXT2):c.12G>A (p.Ser4=)
NM_207122.2(EXT2):c.1305+14A>G
NM_207122.2(EXT2):c.1306-13T>C rs749657208
NM_207122.2(EXT2):c.1306-14C>A
NM_207122.2(EXT2):c.1306-14C>T
NM_207122.2(EXT2):c.1306-8T>C
NM_207122.2(EXT2):c.1308G>A (p.Lys436=)
NM_207122.2(EXT2):c.1308G>T (p.Lys436Asn)
NM_207122.2(EXT2):c.1312G>T (p.Gly438Cys) rs775111831
NM_207122.2(EXT2):c.1328C>T (p.Pro443Leu)
NM_207122.2(EXT2):c.1338C>T (p.Leu446=) rs1955474586
NM_207122.2(EXT2):c.1340C>T (p.Pro447Leu)
NM_207122.2(EXT2):c.1342C>T (p.Leu448=)
NM_207122.2(EXT2):c.1344G>A (p.Leu448=)
NM_207122.2(EXT2):c.1350A>G (p.Pro450=)
NM_207122.2(EXT2):c.1353A>G (p.Pro451=)
NM_207122.2(EXT2):c.1363G>A (p.Gly455Arg)
NM_207122.2(EXT2):c.1370C>A (p.Thr457Asn)
NM_207122.2(EXT2):c.1371C>T (p.Thr457=)
NM_207122.2(EXT2):c.1376T>C (p.Ile459Thr)
NM_207122.2(EXT2):c.1392C>T (p.Asp464=)
NM_207122.2(EXT2):c.1394G>A (p.Arg465Gln)
NM_207122.2(EXT2):c.1436T>A (p.Val479Glu)
NM_207122.2(EXT2):c.1438C>T (p.Pro480Ser)
NM_207122.2(EXT2):c.143A>T (p.His48Leu) rs1590547374
NM_207122.2(EXT2):c.1440C>T (p.Pro480=) rs2135185399
NM_207122.2(EXT2):c.1449C>T (p.Ser483=)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=) rs1343630556
NM_207122.2(EXT2):c.1462G>A (p.Val488Ile)
NM_207122.2(EXT2):c.1465T>C (p.Trp489Arg) rs2135185580
NM_207122.2(EXT2):c.1466G>C (p.Trp489Ser)
NM_207122.2(EXT2):c.147T>G (p.Ser49=)
NM_207122.2(EXT2):c.1484del (p.Asn495fs)
NM_207122.2(EXT2):c.1489_1495+12del
NM_207122.2(EXT2):c.148A>G (p.Ile50Val)
NM_207122.2(EXT2):c.1495+12T>C
NM_207122.2(EXT2):c.1495+7dup rs1376958816
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn) rs1314735230
NM_207122.2(EXT2):c.1496-17C>A rs1370105753
NM_207122.2(EXT2):c.1518G>A (p.Arg506=)
NM_207122.2(EXT2):c.1524A>G (p.Pro508=)
NM_207122.2(EXT2):c.1524A>T (p.Pro508=)
NM_207122.2(EXT2):c.1525T>C (p.Leu509=)
NM_207122.2(EXT2):c.1565G>A (p.Arg522His) rs1271452312
NM_207122.2(EXT2):c.1574C>G (p.Pro525Arg)
NM_207122.2(EXT2):c.1575T>C (p.Pro525=) rs372914384
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter) rs2135204843
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp) rs1955590072
NM_207122.2(EXT2):c.1626T>A (p.Ile542=)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1662+17_1662+18del
NM_207122.2(EXT2):c.1662+18A>G
NM_207122.2(EXT2):c.1662+1G>C
NM_207122.2(EXT2):c.1662+20T>C
NM_207122.2(EXT2):c.1662+4A>C
NM_207122.2(EXT2):c.1662G>C (p.Glu554Asp)
NM_207122.2(EXT2):c.1663-14G>A
NM_207122.2(EXT2):c.1663-1G>A
NM_207122.2(EXT2):c.1669C>A (p.Arg557=) rs768532662
NM_207122.2(EXT2):c.1669C>T (p.Arg557Trp) rs768532662
NM_207122.2(EXT2):c.1683C>T (p.Asp561=) rs1955909250
NM_207122.2(EXT2):c.1684C>G (p.Arg562Gly)
NM_207122.2(EXT2):c.1684C>T (p.Arg562Trp)
NM_207122.2(EXT2):c.1698C>A (p.Tyr566Ter)
NM_207122.2(EXT2):c.1700C>T (p.Pro567Leu)
NM_207122.2(EXT2):c.1701G>A (p.Pro567=)
NM_207122.2(EXT2):c.1708C>T (p.Leu570=)
NM_207122.2(EXT2):c.1719G>C (p.Trp573Cys)
NM_207122.2(EXT2):c.1724A>G (p.His575Arg)
NM_207122.2(EXT2):c.1731dup (p.Asn578fs)
NM_207122.2(EXT2):c.1740G>A (p.Trp580Ter) rs1564986609
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys) rs1564986609
NM_207122.2(EXT2):c.1743G>A (p.Lys581=) rs772721212
NM_207122.2(EXT2):c.1752T>G (p.Ser584=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=) rs2135259732
NM_207122.2(EXT2):c.1765G>A (p.Glu589Lys)
NM_207122.2(EXT2):c.1771T>C (p.Ser591Pro)
NM_207122.2(EXT2):c.1773C>T (p.Ser591=)
NM_207122.2(EXT2):c.1776G>A (p.Met592Ile)
NM_207122.2(EXT2):c.1777G>T (p.Val593Leu)
NM_207122.2(EXT2):c.1782C>T (p.Leu594=)
NM_207122.2(EXT2):c.1798T>C (p.Tyr600His)
NM_207122.2(EXT2):c.1799A>G (p.Tyr600Cys)
NM_207122.2(EXT2):c.1802A>G (p.His601Arg) rs1590666587
NM_207122.2(EXT2):c.1802_1803delinsCT (p.His601Pro) rs2135259942
NM_207122.2(EXT2):c.1803C>T (p.His601=) rs1590666591
NM_207122.2(EXT2):c.1806+16C>A
NM_207122.2(EXT2):c.1806+5G>C
NM_207122.2(EXT2):c.1806+9G>T rs2135260004
NM_207122.2(EXT2):c.1806+9del rs372901342
NM_207122.2(EXT2):c.1823A>G (p.Tyr608Cys) rs1590667793
NM_207122.2(EXT2):c.1854C>G (p.Asn618Lys)
NM_207122.2(EXT2):c.1855T>C (p.Trp619Arg)
NM_207122.2(EXT2):c.1860A>G (p.Val620=)
NM_207122.2(EXT2):c.1863T>C (p.Asp621=)
NM_207122.2(EXT2):c.1876T>C (p.Cys626Arg) rs2135263090
NM_207122.2(EXT2):c.1892T>C (p.Met631Thr)
NM_207122.2(EXT2):c.1894A>G (p.Asn632Asp) rs1334534184
NM_207122.2(EXT2):c.1898_1899delinsCT (p.Phe633Ser)
NM_207122.2(EXT2):c.18G>A (p.Lys6=) rs375300731
NM_207122.2(EXT2):c.1900C>T (p.Leu634=) rs1955932950
NM_207122.2(EXT2):c.1910A>G (p.Asn637Ser)
NM_207122.2(EXT2):c.1911C>T (p.Asn637=)
NM_207122.2(EXT2):c.1917G>A (p.Thr639=)
NM_207122.2(EXT2):c.192T>C (p.Arg64=) rs2134966282
NM_207122.2(EXT2):c.1930del (p.Ile644fs)
NM_207122.2(EXT2):c.1935+19C>T
NM_207122.2(EXT2):c.1935+1G>T
NM_207122.2(EXT2):c.1935+3A>C
NM_207122.2(EXT2):c.1936-10C>T
NM_207122.2(EXT2):c.1936-12C>T
NM_207122.2(EXT2):c.1936-14T>C rs2135267767
NM_207122.2(EXT2):c.1958A>G (p.Lys653Arg)
NM_207122.2(EXT2):c.1959G>A (p.Lys653=)
NM_207122.2(EXT2):c.1977_1987del (p.Ile660fs)
NM_207122.2(EXT2):c.1985G>C (p.Gly662Ala)
NM_207122.2(EXT2):c.198G>C (p.Val66=) rs775542605
NM_207122.2(EXT2):c.200C>T (p.Pro67Leu)
NM_207122.2(EXT2):c.2018+17C>A
NM_207122.2(EXT2):c.2019-2A>G
NM_207122.2(EXT2):c.2019-2del
NM_207122.2(EXT2):c.2028C>T (p.Cys676=)
NM_207122.2(EXT2):c.2031CAA[1] (p.Asn678del) rs753223281
NM_207122.2(EXT2):c.203_258del (p.Val68fs) rs1954081053
NM_207122.2(EXT2):c.2046A>G (p.Ser682=)
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu) rs1956070950
NM_207122.2(EXT2):c.2054G>C (p.Gly685Ala) rs1389539812
NM_207122.2(EXT2):c.205G>A (p.Val69Ile) rs200809171
NM_207122.2(EXT2):c.2063C>T (p.Pro688Leu)
NM_207122.2(EXT2):c.2083C>T (p.Arg695Ter)
NM_207122.2(EXT2):c.20A>G (p.Tyr7Cys)
NM_207122.2(EXT2):c.2103C>T (p.Tyr701=)
NM_207122.2(EXT2):c.210G>A (p.Arg70=)
NM_207122.2(EXT2):c.211del (p.Leu71fs) rs1954081372
NM_207122.2(EXT2):c.2120A>G (p.Glu707Gly) rs769426160
NM_207122.2(EXT2):c.2126T>A (p.Leu709Gln)
NM_207122.2(EXT2):c.2130G>A (p.Lys710=) rs2135284224
NM_207122.2(EXT2):c.220G>A (p.Asp74Asn)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr) rs999897934
NM_207122.2(EXT2):c.22A>G (p.Asn8Asp)
NM_207122.2(EXT2):c.236A>G (p.Glu79Gly)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln) rs763536229
NM_207122.2(EXT2):c.244del (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.244dup (p.Asp82fs) rs1555002457
NM_207122.2(EXT2):c.245A>C (p.Asp82Ala) rs534539796
NM_207122.2(EXT2):c.245dup (p.Asp82fs) rs1555002460
NM_207122.2(EXT2):c.248_249del (p.Leu83fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs) rs1954082764
NM_207122.2(EXT2):c.261G>A (p.Met87Ile) rs758194845
NM_207122.2(EXT2):c.265A>G (p.Thr89Ala)
NM_207122.2(EXT2):c.278T>C (p.Val93Ala)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter) rs2134967046
NM_207122.2(EXT2):c.28C>A (p.Arg10=) rs4755228
NM_207122.2(EXT2):c.28C>T (p.Arg10Trp)
NM_207122.2(EXT2):c.306C>T (p.Asn102=) rs2134967175
NM_207122.2(EXT2):c.307A>G (p.Lys103Glu) rs907886635
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr) rs1321100355
NM_207122.2(EXT2):c.315G>A (p.Lys105=)
NM_207122.2(EXT2):c.31G>A (p.Gly11Ser) rs886048274
NM_207122.2(EXT2):c.320A>G (p.Tyr107Cys)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter) rs767802942
NM_207122.2(EXT2):c.321T>C (p.Tyr107=)
NM_207122.2(EXT2):c.33T>C (p.Gly11=)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.374C>G (p.Thr125Ser)
NM_207122.2(EXT2):c.376A>G (p.Ile126Val)
NM_207122.2(EXT2):c.377T>G (p.Ile126Ser) rs2134967559
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr) rs1389288265
NM_207122.2(EXT2):c.383_390del (p.Arg128fs)
NM_207122.2(EXT2):c.393T>C (p.Asn131=)
NM_207122.2(EXT2):c.394G>C (p.Glu132Gln) rs1954086080
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter) rs1954086080
NM_207122.2(EXT2):c.398T>G (p.Leu133Arg)
NM_207122.2(EXT2):c.398_401dup (p.Met135fs) rs886041272
NM_207122.2(EXT2):c.398_402del (p.Leu133fs) rs2134967717
NM_207122.2(EXT2):c.410T>C (p.Ile137Thr)
NM_207122.2(EXT2):c.417C>A (p.Asp139Glu)
NM_207122.2(EXT2):c.417C>T (p.Asp139=)
NM_207122.2(EXT2):c.422A>T (p.Asp141Val)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.429C>A (p.Tyr143Ter) rs1555002543
NM_207122.2(EXT2):c.430A>G (p.Thr144Ala)
NM_207122.2(EXT2):c.443A>G (p.Asn148Ser)
NM_207122.2(EXT2):c.446G>A (p.Arg149Gln)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.456G>C (p.Leu152=)
NM_207122.2(EXT2):c.459_462del (p.Val154fs) rs1954088614
NM_207122.2(EXT2):c.469A>C (p.Ile157Leu)
NM_207122.2(EXT2):c.471C>A (p.Ile157=) rs747429885
NM_207122.2(EXT2):c.472G>A (p.Asp158Asn)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly) rs1954089321
NM_207122.2(EXT2):c.474T>A (p.Asp158Glu)
NM_207122.2(EXT2):c.482del (p.Asn161fs) rs1590548336
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr) rs1954089713
NM_207122.2(EXT2):c.491C>T (p.Thr164Ile)
NM_207122.2(EXT2):c.495G>A (p.Leu165=)
NM_207122.2(EXT2):c.496C>T (p.Arg166Cys)
NM_207122.2(EXT2):c.514C>T (p.Gln172Ter) rs121918279
NM_207122.2(EXT2):c.516A>G (p.Gln172=)
NM_207122.2(EXT2):c.516del (p.Ala173fs) rs2134968744
NM_207122.2(EXT2):c.518C>T (p.Ala173Val)
NM_207122.2(EXT2):c.519G>A (p.Ala173=)
NM_207122.2(EXT2):c.519G>C (p.Ala173=) rs148121594
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.520A>T (p.Met174Leu) rs111589746
NM_207122.2(EXT2):c.528_529delinsAA (p.Leu177Ile)
NM_207122.2(EXT2):c.534T>C (p.Ser178=)
NM_207122.2(EXT2):c.536+10A>T rs748432706
NM_207122.2(EXT2):c.536+14A>G
NM_207122.2(EXT2):c.536+15T>A
NM_207122.2(EXT2):c.536+17C>A
NM_207122.2(EXT2):c.536+19G>C
NM_207122.2(EXT2):c.536+1G>A rs1954091762
NM_207122.2(EXT2):c.536+1G>C rs1954091762
NM_207122.2(EXT2):c.536+20C>G
NM_207122.2(EXT2):c.536+7C>G rs755324495
NM_207122.2(EXT2):c.537-4_561del rs2134971478
NM_207122.2(EXT2):c.537G>A (p.Arg179=)
NM_207122.2(EXT2):c.539G>A (p.Trp180Ter) rs886039565
NM_207122.2(EXT2):c.540G>A (p.Trp180Ter) rs2134971524
NM_207122.2(EXT2):c.544C>T (p.Arg182Ter) rs886039358
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln) rs563383543
NM_207122.2(EXT2):c.545G>T (p.Arg182Leu) rs563383543
NM_207122.2(EXT2):c.553_558del (p.Asn185_His186del) rs761364688
NM_207122.2(EXT2):c.561G>C (p.Leu187=)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del) rs1954106603
NM_207122.2(EXT2):c.570C>T (p.Asn190=)
NM_207122.2(EXT2):c.572T>C (p.Met191Thr)
NM_207122.2(EXT2):c.587C>T (p.Pro196Leu)
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser) rs1954107822
NM_207122.2(EXT2):c.602_603del (p.Thr201fs) rs1954107890
NM_207122.2(EXT2):c.610del (p.Asp204fs)
NM_207122.2(EXT2):c.618C>A (p.Pro206=)
NM_207122.2(EXT2):c.61A>G (p.Lys21Glu) rs2134965342
NM_207122.2(EXT2):c.620_626+158del rs2134971964
NM_207122.2(EXT2):c.626+14T>C
NM_207122.2(EXT2):c.626+19G>A rs370903897
NM_207122.2(EXT2):c.626+1G>A rs1057521132
NM_207122.2(EXT2):c.626+1G>T rs1057521132
NM_207122.2(EXT2):c.626+2T>G rs1954108778
NM_207122.2(EXT2):c.626+2_626+5del rs1954108641
NM_207122.2(EXT2):c.626+6A>T
NM_207122.2(EXT2):c.626+6_626+8del
NM_207122.2(EXT2):c.626G>A (p.Arg209Lys)
NM_207122.2(EXT2):c.627-18A>G
NM_207122.2(EXT2):c.627-2A>G rs1064793854
NM_207122.2(EXT2):c.640G>T (p.Gly214Cys)
NM_207122.2(EXT2):c.64_68del (p.His22fs) rs2134965356
NM_207122.2(EXT2):c.657G>A (p.Thr219=)
NM_207122.2(EXT2):c.658T>C (p.Trp220Arg)
NM_207122.2(EXT2):c.659G>A (p.Trp220Ter)
NM_207122.2(EXT2):c.65A>G (p.His22Arg) rs1954077075
NM_207122.2(EXT2):c.668G>A (p.Arg223Gln)
NM_207122.2(EXT2):c.668G>C (p.Arg223Pro) rs764379119
NM_207122.2(EXT2):c.669G>A (p.Arg223=) rs141410374
NM_207122.2(EXT2):c.670C>T (p.Gln224Ter) rs1565199251
NM_207122.2(EXT2):c.678C>A (p.Tyr226Ter)
NM_207122.2(EXT2):c.679G>A (p.Asp227Asn) rs121918280
NM_207122.2(EXT2):c.680A>G (p.Asp227Gly) rs2134984829
NM_207122.2(EXT2):c.680A>T (p.Asp227Val) rs2134984829
NM_207122.2(EXT2):c.687C>T (p.Ser229=) rs2134984902
NM_207122.2(EXT2):c.695T>G (p.Val232Gly)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter) rs1319747883
NM_207122.2(EXT2):c.69A>T (p.Arg23=) rs2134965405
NM_207122.2(EXT2):c.705A>G (p.Pro235=)
NM_207122.2(EXT2):c.705_706del (p.Leu236fs) rs2134985142
NM_207122.2(EXT2):c.717G>A (p.Glu239=)
NM_207122.2(EXT2):c.720G>A (p.Val240=)
NM_207122.2(EXT2):c.724C>T (p.Leu242Phe)
NM_207122.2(EXT2):c.729del (p.Glu244fs) rs2134985455
NM_207122.2(EXT2):c.739C>G (p.Pro247Ala)
NM_207122.2(EXT2):c.740C>A (p.Pro247Gln) rs372237191
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg) rs372237191
NM_207122.2(EXT2):c.743+1G>A rs886039567
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-10dup
NM_207122.2(EXT2):c.744-12T>C
NM_207122.2(EXT2):c.744-16T>G
NM_207122.2(EXT2):c.744-1G>A rs1954372994
NM_207122.2(EXT2):c.744-20C>T rs2135014483
NM_207122.2(EXT2):c.744-2A>C rs864309638
NM_207122.2(EXT2):c.744-8C>T
NM_207122.2(EXT2):c.750del (p.Gln251fs) rs2135014654
NM_207122.2(EXT2):c.755A>G (p.Tyr252Cys)
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter) rs1954373394
NM_207122.2(EXT2):c.756C>G (p.Tyr252Ter)
NM_207122.2(EXT2):c.758T>A (p.Phe253Tyr)
NM_207122.2(EXT2):c.760C>T (p.Leu254Phe)
NM_207122.2(EXT2):c.773A>G (p.Gln258Arg) rs2135014787
NM_207122.2(EXT2):c.779G>T (p.Gly260Val) rs201895861
NM_207122.2(EXT2):c.779del (p.Gly260fs) rs1410604006
NM_207122.2(EXT2):c.783_784del (p.His262fs) rs2135014852
NM_207122.2(EXT2):c.785dup (p.His262fs) rs1555005328
NM_207122.2(EXT2):c.798A>G (p.Arg266=)
NM_207122.2(EXT2):c.814C>T (p.Leu272Phe)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter) rs1954375189
NM_207122.2(EXT2):c.82_143del (p.Thr28fs)
NM_207122.2(EXT2):c.839T>A (p.Val280Glu)
NM_207122.2(EXT2):c.844G>A (p.Val282Ile)
NM_207122.2(EXT2):c.84C>A (p.Thr28=)
NM_207122.2(EXT2):c.84C>T (p.Thr28=) rs1954077511
NM_207122.2(EXT2):c.850G>A (p.Asp284Asn)
NM_207122.2(EXT2):c.856T>C (p.Cys286Arg)
NM_207122.2(EXT2):c.857G>A (p.Cys286Tyr)
NM_207122.2(EXT2):c.859del (p.Thr287fs)
NM_207122.2(EXT2):c.869C>A (p.Ser290Ter)
NM_207122.2(EXT2):c.871G>T (p.Glu291Ter)
NM_207122.2(EXT2):c.87_88del (p.Phe30fs) rs886039744
NM_207122.2(EXT2):c.886G>C (p.Val296Leu) rs1954377301
NM_207122.2(EXT2):c.887T>A (p.Val296Asp)
NM_207122.2(EXT2):c.899_910dup (p.His303_Gln304insArgHisLysHis)
NM_207122.2(EXT2):c.89del (p.Phe30fs) rs2134965481
NM_207122.2(EXT2):c.906_907dup (p.His303fs) rs886041199
NM_207122.2(EXT2):c.913G>C (p.Val305Leu)
NM_207122.2(EXT2):c.913del (p.Val305fs) rs1954378294
NM_207122.2(EXT2):c.919G>C (p.Asp307His)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly) rs1260423517
NM_207122.2(EXT2):c.928C>T (p.Gln310Ter) rs1555005398
NM_207122.2(EXT2):c.929A>T (p.Gln310Leu)
NM_207122.2(EXT2):c.931G>A (p.Val311Met) rs1449762239
NM_207122.2(EXT2):c.933G>A (p.Val311=)
NM_207122.2(EXT2):c.937C>T (p.Gln313Ter) rs763718818
NM_207122.2(EXT2):c.939+11T>C
NM_207122.2(EXT2):c.939+14A>C
NM_207122.2(EXT2):c.939+1G>T
NM_207122.2(EXT2):c.939+1del rs2135015765
NM_207122.2(EXT2):c.940-13del rs765515424
NM_207122.2(EXT2):c.940-14T>G
NM_207122.2(EXT2):c.940-15T>C
NM_207122.2(EXT2):c.940-2A>G rs1954411419
NM_207122.2(EXT2):c.942G>A (p.Glu314=)
NM_207122.2(EXT2):c.951C>T (p.Phe317=) rs2135020214
NM_207122.2(EXT2):c.952T>C (p.Cys318Arg) rs2135020224
NM_207122.2(EXT2):c.952_964del (p.Cys318fs) rs1954411719
NM_207122.2(EXT2):c.953G>A (p.Cys318Tyr)
NM_207122.2(EXT2):c.955G>A (p.Val319Met)
NM_207122.2(EXT2):c.956T>C (p.Val319Ala)
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs) rs1954412043
NM_207122.2(EXT2):c.964C>T (p.Arg322Cys)
NM_207122.2(EXT2):c.969A>G (p.Gly323=)
NM_207122.2(EXT2):c.988G>A (p.Val330Ile)
NM_207122.2(EXT2):c.999_1000inv (p.Val334Met)

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