ClinVar Miner

List of variants studied for FG syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1659
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HGVS dbSNP gnomAD frequency
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.205-38C>T rs12850852 0.21650
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_004463.3(FGD1):c.659+27T>C rs2239809 0.10870
NM_004463.3(FGD1):c.*36C>T rs2230265 0.08679
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01806
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01426
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_005120.3(MED12):c.2886C>T (p.Ser962=) rs34761462 0.00604
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.1386G>T (p.Val462=) rs186153976 0.00216
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00124
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00116
NM_005120.3(MED12):c.2981+13G>A rs73214870 0.00105
NM_005120.3(MED12):c.3204C>T (p.Pro1068=) rs201807437 0.00104
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.438A>G (p.Leu146=) rs35068602 0.00091
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00072
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001110556.2(FLNA):c.3207+14G>A rs200710010 0.00041
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00041
NM_005120.3(MED12):c.1695T>A (p.Ile565=) rs138984044 0.00039
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00039
NM_005120.3(MED12):c.5400+7G>A rs201254124 0.00038
NM_005120.3(MED12):c.397-12A>T rs192515277 0.00036
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00026
NM_001110556.2(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251 0.00025
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00023
NM_001110556.2(FLNA):c.7628G>A (p.Cys2543Tyr) rs201762017 0.00022
NM_001110556.2(FLNA):c.2516C>T (p.Thr839Met) rs201603843 0.00021
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 0.00021
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.4665G>A (p.Thr1555=) rs375001801 0.00019
NM_005120.3(MED12):c.708C>T (p.Thr236=) rs34668206 0.00019
NM_001110556.2(FLNA):c.958G>A (p.Val320Met) rs781889196 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.4416-15T>C rs770290521 0.00018
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_001110556.2(FLNA):c.3260G>A (p.Arg1087His) rs369668866 0.00016
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00015
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met) rs371366175 0.00011
NM_005120.3(MED12):c.3355-14G>T rs770487966 0.00011
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957 0.00011
NM_004463.3(FGD1):c.2821C>T (p.Pro941Ser) rs201610363 0.00010
NM_005120.3(MED12):c.321A>C (p.Ala107=) rs748627661 0.00010
NM_005120.3(MED12):c.3357C>T (p.Val1119=) rs773679943 0.00010
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=) rs369268877 0.00010
NM_005120.3(MED12):c.46C>A (p.Arg16=) rs749802630 0.00010
NM_005120.3(MED12):c.5617A>G (p.Thr1873Ala) rs372326268 0.00010
NM_005120.3(MED12):c.6201A>G (p.Gln2067=) rs375793297 0.00010
NM_001110556.2(FLNA):c.4908C>T (p.Ala1636=) rs367979917 0.00009
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu) rs375897167 0.00009
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) rs765417606 0.00009
NM_005120.3(MED12):c.2721G>A (p.Leu907=) rs757010467 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 0.00009
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00009
NM_005120.3(MED12):c.5103T>C (p.Ser1701=) rs762801267 0.00009
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro) rs201843482 0.00009
NM_001110556.2(FLNA):c.1581C>T (p.Arg527=) rs782684339 0.00008
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 0.00008
NM_005120.3(MED12):c.1349-11T>C rs775255445 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
NM_005120.3(MED12):c.966T>C (p.Ala322=) rs370616416 0.00008
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_005120.3(MED12):c.3111G>A (p.Thr1037=) rs185658730 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 0.00007
NM_005120.3(MED12):c.5400+16G>A rs777417480 0.00007
NM_005120.3(MED12):c.5593A>G (p.Met1865Val) rs587778438 0.00007
NM_005120.3(MED12):c.5712G>A (p.Ala1904=) rs189962028 0.00007
NM_005120.3(MED12):c.6097A>G (p.Met2033Val) rs372606012 0.00007
NM_005120.3(MED12):c.6409-14C>A rs374791085 0.00007
NM_001110556.2(FLNA):c.2364G>A (p.Glu788=) rs1448428046 0.00006
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 0.00006
NM_005120.3(MED12):c.2422+16C>A rs774516868 0.00006
NM_005120.3(MED12):c.2685+20G>A rs750829548 0.00006
NM_005120.3(MED12):c.3222C>T (p.Ile1074=) rs374156594 0.00006
NM_005120.3(MED12):c.3692-12C>T rs1343656787 0.00006
NM_005120.3(MED12):c.4620G>T (p.Val1540=) rs756385578 0.00006
NM_005120.3(MED12):c.5205C>T (p.Arg1735=) rs747836622 0.00006
NM_005120.3(MED12):c.568A>G (p.Ile190Val) rs374780236 0.00006
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 0.00006
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) rs1269514277 0.00005
NM_005120.3(MED12):c.1323C>T (p.Phe441=) rs371928861 0.00005
NM_005120.3(MED12):c.2311A>G (p.Ile771Val) rs749158402 0.00005
NM_005120.3(MED12):c.2685+17G>T rs767584131 0.00005
NM_005120.3(MED12):c.3577+12T>C rs748526937 0.00005
NM_005120.3(MED12):c.3692-14C>T rs747228964 0.00005
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00005
NM_005120.3(MED12):c.4253+4G>A rs750162341 0.00005
NM_005120.3(MED12):c.4864-6C>T rs1018026145 0.00005
NM_005120.3(MED12):c.4880G>A (p.Arg1627His) rs759857680 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005120.3(MED12):c.5301C>G (p.Pro1767=) rs1381304769 0.00005
NM_005120.3(MED12):c.5490A>C (p.Thr1830=) rs762466624 0.00005
NM_005120.3(MED12):c.5775A>G (p.Ser1925=) rs376753995 0.00005
NM_005120.3(MED12):c.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6044+20G>T rs1022385883 0.00005
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val) rs748668603 0.00005
NM_005120.3(MED12):c.727A>C (p.Met243Leu) rs1569480971 0.00005
NM_005120.3(MED12):c.906A>G (p.Thr302=) rs1458066906 0.00005
NM_001110556.2(FLNA):c.5138C>T (p.Thr1713Met) rs782555986 0.00004
NM_005120.3(MED12):c.1348+18G>A rs776024292 0.00004
NM_005120.3(MED12):c.1364G>A (p.Arg455Gln) rs760696164 0.00004
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu) rs766485358 0.00004
NM_005120.3(MED12):c.1744+4C>T rs780750721 0.00004
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00004
NM_005120.3(MED12):c.1975-5C>T rs200891932 0.00004
NM_005120.3(MED12):c.2136C>T (p.Pro712=) rs377207665 0.00004
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 0.00004
NM_005120.3(MED12):c.255C>T (p.Thr85=) rs979820064 0.00004
NM_005120.3(MED12):c.3691+4C>T rs373381746 0.00004
NM_005120.3(MED12):c.3692-11G>A rs773008879 0.00004
NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala) rs1028631372 0.00004
NM_005120.3(MED12):c.4028G>A (p.Arg1343His) rs201044355 0.00004
NM_005120.3(MED12):c.4044C>T (p.Leu1348=) rs367674919 0.00004
NM_005120.3(MED12):c.4416-6C>T rs775717904 0.00004
NM_005120.3(MED12):c.4863+15C>T rs778076528 0.00004
NM_005120.3(MED12):c.5135G>A (p.Arg1712Gln) rs1196582695 0.00004
NM_005120.3(MED12):c.5190G>C (p.Leu1730=) rs753355369 0.00004
NM_005120.3(MED12):c.5442G>C (p.Val1814=) rs773540568 0.00004
NM_005120.3(MED12):c.5749-15C>T rs373056174 0.00004
NM_005120.3(MED12):c.5826+7G>C rs374573886 0.00004
NM_005120.3(MED12):c.5966G>A (p.Arg1989His) rs1569482448 0.00004
NM_005120.3(MED12):c.5981G>A (p.Arg1994Gln) rs750926172 0.00004
NM_005120.3(MED12):c.6079A>G (p.Ile2027Val) rs750648216 0.00004
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_001110556.2(FLNA):c.1019G>A (p.Arg340His) rs371368679 0.00003
NM_001110556.2(FLNA):c.1633A>G (p.Met545Val) rs1443563081 0.00003
NM_001110556.2(FLNA):c.2392G>A (p.Glu798Lys) rs782454177 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001110556.2(FLNA):c.6863G>A (p.Arg2288His) rs782275601 0.00003
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082 0.00003
NM_001367721.1(CASK):c.1345C>T (p.His449Tyr) rs2519819247 0.00003
NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln) rs750940208 0.00003
NM_005120.3(MED12):c.100-19C>T rs930154299 0.00003
NM_005120.3(MED12):c.1101+14G>A rs745671946 0.00003
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) rs368913305 0.00003
NM_005120.3(MED12):c.1281G>A (p.Gln427=) rs747199355 0.00003
NM_005120.3(MED12):c.1332C>T (p.Cys444=) rs746205041 0.00003
NM_005120.3(MED12):c.1485+6C>T rs565198403 0.00003
NM_005120.3(MED12):c.1486-8T>C rs1202454929 0.00003
NM_005120.3(MED12):c.1619G>A (p.Arg540His) rs774363039 0.00003
NM_005120.3(MED12):c.1659C>T (p.Ile553=) rs763388314 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151 0.00003
NM_005120.3(MED12):c.204+13T>G rs901178143 0.00003
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752 0.00003
NM_005120.3(MED12):c.2395C>T (p.Leu799=) rs1280842063 0.00003
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00003
NM_005120.3(MED12):c.2429A>C (p.Glu810Ala) rs752847512 0.00003
NM_005120.3(MED12):c.2484T>C (p.Asp828=) rs781733323 0.00003
NM_005120.3(MED12):c.2542-5A>G rs777247768 0.00003
NM_005120.3(MED12):c.2748C>A (p.Gly916=) rs768686458 0.00003
NM_005120.3(MED12):c.2895C>T (p.Ser965=) rs1060504496 0.00003
NM_005120.3(MED12):c.3012C>T (p.Ile1004=) rs775829185 0.00003
NM_005120.3(MED12):c.3333C>T (p.Asn1111=) rs781289776 0.00003
NM_005120.3(MED12):c.3381G>T (p.Ser1127=) rs369946933 0.00003
NM_005120.3(MED12):c.3691+9G>A rs376612314 0.00003
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala) rs770904571 0.00003
NM_005120.3(MED12):c.3782G>A (p.Arg1261Gln) rs1388327076 0.00003
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly) rs766827969 0.00003
NM_005120.3(MED12):c.4047+20G>A rs924668185 0.00003
NM_005120.3(MED12):c.4146C>T (p.Ile1382=) rs923552252 0.00003
NM_005120.3(MED12):c.4232G>A (p.Ser1411Asn) rs761320689 0.00003
NM_005120.3(MED12):c.4359G>A (p.Lys1453=) rs766087487 0.00003
NM_005120.3(MED12):c.448A>G (p.Thr150Ala) rs758980420 0.00003
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn) rs962560401 0.00003
NM_005120.3(MED12):c.4727+17C>T rs748703121 0.00003
NM_005120.3(MED12):c.5109C>T (p.Gly1703=) rs781134410 0.00003
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794 0.00003
NM_005120.3(MED12):c.5749-11T>G rs948527509 0.00003
NM_005120.3(MED12):c.5778T>C (p.Ser1926=) rs758530859 0.00003
NM_005120.3(MED12):c.5836C>T (p.Pro1946Ser) rs1195178209 0.00003
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala) rs762846340 0.00003
NM_005120.3(MED12):c.6111C>T (p.Gly2037=) rs370522888 0.00003
NM_005120.3(MED12):c.6291G>A (p.Gln2097=) rs756285149 0.00003
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 0.00003
NM_005120.3(MED12):c.6408+9_6408+12del rs1569482815 0.00003
NM_005120.3(MED12):c.6465C>T (p.Val2155=) rs764620745 0.00003
NM_005120.3(MED12):c.927G>A (p.Leu309=) rs957824537 0.00003
NM_001110556.2(FLNA):c.1060C>T (p.His354Tyr) rs1489530369 0.00002
NM_001110556.2(FLNA):c.2254G>A (p.Val752Ile) rs1297013254 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_001110556.2(FLNA):c.3323G>A (p.Cys1108Tyr) rs371677498 0.00002
NM_001110556.2(FLNA):c.5283C>T (p.Tyr1761=) rs782313331 0.00002
NM_001110556.2(FLNA):c.6376C>T (p.Pro2126Ser) rs782400832 0.00002
NM_001367721.1(CASK):c.1714C>T (p.Arg572Cys) rs1421702106 0.00002
NM_001367721.1(CASK):c.2424C>T (p.Tyr808=) rs779629178 0.00002
NM_001367721.1(CASK):c.2734C>T (p.Leu912Phe) rs777220099 0.00002
NM_005120.3(MED12):c.1031C>A (p.Thr344Asn) rs773615925 0.00002
NM_005120.3(MED12):c.1066C>A (p.Arg356=) rs763867883 0.00002
NM_005120.3(MED12):c.1170C>T (p.Thr390=) rs772236514 0.00002
NM_005120.3(MED12):c.1249-16C>T rs770639478 0.00002
NM_005120.3(MED12):c.1344T>G (p.Thr448=) rs375202766 0.00002
NM_005120.3(MED12):c.137A>G (p.Asn46Ser) rs769095144 0.00002
NM_005120.3(MED12):c.1486-14C>T rs1350410737 0.00002
NM_005120.3(MED12):c.153C>T (p.Val51=) rs2147771074 0.00002
NM_005120.3(MED12):c.1614T>C (p.Ala538=) rs750614309 0.00002
NM_005120.3(MED12):c.1639G>A (p.Ala547Thr) rs370812643 0.00002
NM_005120.3(MED12):c.1684A>G (p.Ser562Gly) rs374138730 0.00002
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly) rs1602296844 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.204+12C>G rs1270908634 0.00002
NM_005120.3(MED12):c.204+7C>T rs776275934 0.00002
NM_005120.3(MED12):c.2055+18C>T rs1231106204 0.00002
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2202C>T (p.Tyr734=) rs1366328614 0.00002
NM_005120.3(MED12):c.2227-4G>A rs751157238 0.00002
NM_005120.3(MED12):c.2423-6C>T rs1216312220 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.2686-16C>A rs770596568 0.00002
NM_005120.3(MED12):c.2849+15G>A rs1461453443 0.00002
NM_005120.3(MED12):c.2982C>T (p.Ser994=) rs886039139 0.00002
NM_005120.3(MED12):c.3009C>G (p.Thr1003=) rs375493995 0.00002
NM_005120.3(MED12):c.3033G>A (p.Ser1011=) rs764642821 0.00002
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179 0.00002
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile) rs1321193444 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3354+6A>C rs770027742 0.00002
NM_005120.3(MED12):c.3483T>C (p.Ser1161=) rs774227521 0.00002
NM_005120.3(MED12):c.3516C>G (p.Thr1172=) rs1057521581 0.00002
NM_005120.3(MED12):c.3657C>T (p.Ala1219=) rs1313124626 0.00002
NM_005120.3(MED12):c.3693G>T (p.Gly1231=) rs965896553 0.00002
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys) rs202120461 0.00002
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys) rs1060502168 0.00002
NM_005120.3(MED12):c.380C>T (p.Thr127Met) rs775072642 0.00002
NM_005120.3(MED12):c.3934T>C (p.Leu1312=) rs1406760316 0.00002
NM_005120.3(MED12):c.3951G>A (p.Ala1317=) rs755194632 0.00002
NM_005120.3(MED12):c.397-8C>T rs1207181109 0.00002
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 0.00002
NM_005120.3(MED12):c.4047+13C>T rs371549487 0.00002
NM_005120.3(MED12):c.4161C>T (p.Ile1387=) rs776947543 0.00002
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly) rs961569982 0.00002
NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn) rs759532414 0.00002
NM_005120.3(MED12):c.4253+16G>A rs185066241 0.00002
NM_005120.3(MED12):c.4299T>C (p.Ala1433=) rs763359998 0.00002
NM_005120.3(MED12):c.4380T>C (p.Ser1460=) rs377119772 0.00002
NM_005120.3(MED12):c.439G>A (p.Ala147Thr) rs748453083 0.00002
NM_005120.3(MED12):c.4415+13A>C rs993419382 0.00002
NM_005120.3(MED12):c.4449G>A (p.Ser1483=) rs769025272 0.00002
NM_005120.3(MED12):c.4527+18A>T rs372687896 0.00002
NM_005120.3(MED12):c.4528-20T>G rs1266001762 0.00002
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser) rs753169363 0.00002
NM_005120.3(MED12):c.4566T>C (p.Asp1522=) rs1243939574 0.00002
NM_005120.3(MED12):c.4577A>G (p.Lys1526Arg) rs774937112 0.00002
NM_005120.3(MED12):c.4618-7C>T rs1165125606 0.00002
NM_005120.3(MED12):c.4761C>T (p.Ser1587=) rs369563649 0.00002
NM_005120.3(MED12):c.4863+16G>A rs745396813 0.00002
NM_005120.3(MED12):c.5026-12T>A rs1057520901 0.00002
NM_005120.3(MED12):c.5088G>A (p.Pro1696=) rs202167558 0.00002
NM_005120.3(MED12):c.5175C>T (p.Leu1725=) rs1284958405 0.00002
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057 0.00002
NM_005120.3(MED12):c.5400+11C>T rs1463485224 0.00002
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354 0.00002
NM_005120.3(MED12):c.543C>T (p.Asp181=) rs901231883 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala) rs200328506 0.00002
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00002
NM_005120.3(MED12):c.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.5576G>A (p.Arg1859His) rs763700798 0.00002
NM_005120.3(MED12):c.5652C>T (p.Gly1884=) rs779068766 0.00002
NM_005120.3(MED12):c.5718C>T (p.Pro1906=) rs746436864 0.00002
NM_005120.3(MED12):c.5749-5T>A rs949727987 0.00002
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn) rs2092335840 0.00002
NM_005120.3(MED12):c.5809G>A (p.Gly1937Ser) rs781638379 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro) rs1369528141 0.00002
NM_005120.3(MED12):c.5991C>T (p.Gly1997=) rs780565385 0.00002
NM_005120.3(MED12):c.6076A>G (p.Met2026Val) rs1294140756 0.00002
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser) rs901541873 0.00002
NM_005120.3(MED12):c.6128G>A (p.Arg2043His) rs779515761 0.00002
NM_005120.3(MED12):c.6207A>G (p.Gln2069=) rs774201765 0.00002
NM_005120.3(MED12):c.6218A>G (p.Gln2073Arg) rs2092345351 0.00002
NM_005120.3(MED12):c.6491-20T>C rs377247868 0.00002
NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys) rs777818556 0.00002
NM_005120.3(MED12):c.672T>C (p.His224=) rs1407401085 0.00002
NM_005120.3(MED12):c.692G>A (p.Arg231Gln) rs981968954 0.00002
NM_005120.3(MED12):c.735+15A>G rs202206536 0.00002
NM_005120.3(MED12):c.735+19T>C rs369585015 0.00002
NM_005120.3(MED12):c.736-10G>A rs764384329 0.00002
NM_005120.3(MED12):c.736-4A>G rs371311763 0.00002
NM_005120.3(MED12):c.847-13C>T rs374744294 0.00002
NM_005120.3(MED12):c.931G>A (p.Gly311Ser) rs1477622307 0.00002
NM_005120.3(MED12):c.981G>A (p.Thr327=) rs769757456 0.00002
NM_001110556.2(FLNA):c.1270A>G (p.Met424Val) rs782066542 0.00001
NM_001110556.2(FLNA):c.1399C>T (p.Arg467Cys) rs367948333 0.00001
NM_001110556.2(FLNA):c.1823C>T (p.Thr608Met) rs1603362434 0.00001
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086 0.00001
NM_001110556.2(FLNA):c.2316C>A (p.Val772=) rs2067723075 0.00001
NM_001110556.2(FLNA):c.2410G>A (p.Val804Ile) rs374130804 0.00001
NM_001110556.2(FLNA):c.2590G>T (p.Val864Phe) rs1557178198 0.00001
NM_001110556.2(FLNA):c.2981A>G (p.Lys994Arg) rs3819330 0.00001
NM_001110556.2(FLNA):c.3034T>G (p.Ser1012Ala) rs1364359427 0.00001
NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu) rs137853312 0.00001
NM_001110556.2(FLNA):c.4381G>A (p.Gly1461Ser) rs868967647 0.00001
NM_001110556.2(FLNA):c.4474+3G>T rs1286863443 0.00001
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00001
NM_001110556.2(FLNA):c.569G>A (p.Arg190Gln) rs782447567 0.00001
NM_001110556.2(FLNA):c.5786C>T (p.Pro1929Leu) rs782359458 0.00001
NM_001110556.2(FLNA):c.6719A>G (p.Lys2240Arg) rs797045581 0.00001
NM_001110556.2(FLNA):c.6725G>A (p.Arg2242Gln) rs781984274 0.00001
NM_001110556.2(FLNA):c.7679T>C (p.Val2560Ala) rs1603358390 0.00001
NM_001367721.1(CASK):c.2621G>A (p.Arg874His) rs754713652 0.00001
NM_004463.3(FGD1):c.1222C>T (p.Arg408Trp) rs1306764549 0.00001
NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) rs137853265 0.00001
NM_004463.3(FGD1):c.1500G>A (p.Lys500=) rs1268877807 0.00001
NM_004463.3(FGD1):c.2417G>A (p.Arg806His) rs1569540985 0.00001
NM_004463.3(FGD1):c.2611A>G (p.Ile871Val) rs1269443836 0.00001
NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly) rs1922164339 0.00001
NM_004463.3(FGD1):c.486C>A (p.Pro162=) rs759337933 0.00001
NM_005120.3(MED12):c.100-10C>G rs781300446 0.00001
NM_005120.3(MED12):c.1011A>C (p.Pro337=) rs749348331 0.00001
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) rs752300879 0.00001
NM_005120.3(MED12):c.1098A>G (p.Leu366=) rs1325162892 0.00001
NM_005120.3(MED12):c.1101+19C>T rs749399594 0.00001
NM_005120.3(MED12):c.1102-14T>C rs2519669653 0.00001
NM_005120.3(MED12):c.1102-9A>G rs1165300427 0.00001
NM_005120.3(MED12):c.1132G>A (p.Val378Ile) rs779969587 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1197T>A (p.Ile399=) rs754944788 0.00001
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395 0.00001
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr) rs964324501 0.00001
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.1265G>A (p.Arg422Gln) rs752746769 0.00001
NM_005120.3(MED12):c.1298A>G (p.Gln433Arg) rs1170167377 0.00001
NM_005120.3(MED12):c.1312C>T (p.Arg438Cys) rs771266719 0.00001
NM_005120.3(MED12):c.1363C>T (p.Arg455Trp) rs1268612180 0.00001
NM_005120.3(MED12):c.1376C>T (p.Thr459Ile) rs2092292878 0.00001
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020 0.00001
NM_005120.3(MED12):c.1485+14G>A rs1276319871 0.00001
NM_005120.3(MED12):c.1485+5G>A rs1006276729 0.00001
NM_005120.3(MED12):c.1513T>A (p.Ser505Thr) rs763909049 0.00001
NM_005120.3(MED12):c.1545G>A (p.Lys515=) rs1602295964 0.00001
NM_005120.3(MED12):c.1556G>A (p.Arg519Gln) rs1323878836 0.00001
NM_005120.3(MED12):c.1565C>G (p.Ala522Gly) rs1289442309 0.00001
NM_005120.3(MED12):c.1599G>A (p.Gln533=) rs914308415 0.00001
NM_005120.3(MED12):c.1602G>A (p.Ala534=) rs1057523461 0.00001
NM_005120.3(MED12):c.1662C>T (p.Ala554=) rs1379633991 0.00001
NM_005120.3(MED12):c.1738A>G (p.Met580Val) rs576733100 0.00001
NM_005120.3(MED12):c.1744+14C>T rs1263378137 0.00001
NM_005120.3(MED12):c.1745-19C>T rs1057524262 0.00001
NM_005120.3(MED12):c.1746G>A (p.Thr582=) rs773240125 0.00001
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln) rs747113641 0.00001
NM_005120.3(MED12):c.1769G>A (p.Arg590Gln) rs2519675209 0.00001
NM_005120.3(MED12):c.1773G>A (p.Val591=) rs1476863671 0.00001
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00001
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln) rs1275427306 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1929C>T (p.Asp643=) rs758195942 0.00001
NM_005120.3(MED12):c.1975-7C>T rs762265257 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.204+9A>C rs1569480794 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.205-3C>T rs1373874214 0.00001
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710 0.00001
NM_005120.3(MED12):c.2129T>C (p.Val710Ala) rs1187273369 0.00001
NM_005120.3(MED12):c.2137C>T (p.Pro713Ser) rs772484830 0.00001
NM_005120.3(MED12):c.2169G>A (p.Gly723=) rs1060504497 0.00001
NM_005120.3(MED12):c.2170G>T (p.Val724Phe) rs764894174 0.00001
NM_005120.3(MED12):c.2178C>T (p.Tyr726=) rs763782632 0.00001
NM_005120.3(MED12):c.2194G>A (p.Val732Met) rs750304793 0.00001
NM_005120.3(MED12):c.2203G>A (p.Ala735Thr) rs756039521 0.00001
NM_005120.3(MED12):c.2232G>A (p.Glu744=) rs1012702212 0.00001
NM_005120.3(MED12):c.2265C>T (p.Val755=) rs750186446 0.00001
NM_005120.3(MED12):c.2266G>A (p.Val756Ile) rs2092300339 0.00001
NM_005120.3(MED12):c.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2302C>T (p.Arg768Cys) rs2147793049 0.00001
NM_005120.3(MED12):c.2305C>A (p.His769Asn) rs755014778 0.00001
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 0.00001
NM_005120.3(MED12):c.232G>A (p.Ala78Thr) rs968474929 0.00001
NM_005120.3(MED12):c.2334C>T (p.Ile778=) rs1206710937 0.00001
NM_005120.3(MED12):c.2341G>A (p.Val781Ile) rs2092300526 0.00001
NM_005120.3(MED12):c.2351G>A (p.Arg784His) rs777238737 0.00001
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly) rs950994901 0.00001
NM_005120.3(MED12):c.2371+7T>G rs768158004 0.00001
NM_005120.3(MED12):c.2372-10C>T rs752691764 0.00001
NM_005120.3(MED12):c.2372-9C>T rs758698633 0.00001
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr) rs2092301192 0.00001
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217 0.00001
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln) rs762905361 0.00001
NM_005120.3(MED12):c.2450G>A (p.Arg817His) rs749801457 0.00001
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln) rs1192740859 0.00001
NM_005120.3(MED12):c.245G>A (p.Arg82His) rs2092284874 0.00001
NM_005120.3(MED12):c.2535G>A (p.Thr845=) rs915335433 0.00001
NM_005120.3(MED12):c.2544C>A (p.Val848=) rs1204827056 0.00001
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00001
NM_005120.3(MED12):c.2631C>T (p.Phe877=) rs751190759 0.00001
NM_005120.3(MED12):c.2649A>G (p.Ser883=) rs1046542346 0.00001
NM_005120.3(MED12):c.2686-20A>T rs1159242065 0.00001
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405 0.00001
NM_005120.3(MED12):c.2727C>T (p.Leu909=) rs372816429 0.00001
NM_005120.3(MED12):c.2759C>T (p.Thr920Ile) rs778697440 0.00001
NM_005120.3(MED12):c.2778C>T (p.Ile926=) rs375971110 0.00001
NM_005120.3(MED12):c.2784T>G (p.Ala928=) rs1431106485 0.00001
NM_005120.3(MED12):c.2823G>A (p.Gln941=) rs917175594 0.00001
NM_005120.3(MED12):c.2849+11C>G rs755525809 0.00001
NM_005120.3(MED12):c.2849+14C>T rs398124196 0.00001
NM_005120.3(MED12):c.2850-13C>T rs1199760146 0.00001
NM_005120.3(MED12):c.2850-7C>G rs1556336208 0.00001
NM_005120.3(MED12):c.2859C>T (p.Gly953=) rs930308384 0.00001
NM_005120.3(MED12):c.2862C>T (p.Val954=) rs748251157 0.00001
NM_005120.3(MED12):c.2919T>C (p.Ala973=) rs1383089163 0.00001
NM_005120.3(MED12):c.2937C>T (p.Tyr979=) rs758935114 0.00001
NM_005120.3(MED12):c.2940C>T (p.Thr980=) rs1198554139 0.00001
NM_005120.3(MED12):c.2982-20C>T rs773211847 0.00001
NM_005120.3(MED12):c.3063C>T (p.Phe1021=) rs797045698 0.00001
NM_005120.3(MED12):c.3069C>T (p.Ile1023=) rs753751305 0.00001
NM_005120.3(MED12):c.3149G>A (p.Arg1050His) rs1228685555 0.00001
NM_005120.3(MED12):c.3192G>A (p.Gly1064=) rs932149153 0.00001
NM_005120.3(MED12):c.3201T>A (p.Asp1067Glu) rs758288118 0.00001
NM_005120.3(MED12):c.3209+4T>C rs1186823223 0.00001
NM_005120.3(MED12):c.3210-18A>G rs777589018 0.00001
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser) rs41303701 0.00001
NM_005120.3(MED12):c.324A>G (p.Arg108=) rs772440501 0.00001
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu) rs2147802207 0.00001
NM_005120.3(MED12):c.3288T>G (p.Leu1096=) rs1167877198 0.00001
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00001
NM_005120.3(MED12):c.33C>T (p.His11=) rs1018272698 0.00001
NM_005120.3(MED12):c.3408C>T (p.Ile1136=) rs756127182 0.00001
NM_005120.3(MED12):c.3409G>A (p.Ala1137Thr) rs1317457286 0.00001
NM_005120.3(MED12):c.3476-20C>G rs762707756 0.00001
NM_005120.3(MED12):c.357C>G (p.Asp119Glu) rs1256975265 0.00001
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys) rs2092310992 0.00001
NM_005120.3(MED12):c.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.361G>T (p.Ala121Ser) rs745348543 0.00001
NM_005120.3(MED12):c.3692-20C>T rs1229787141 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 0.00001
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204 0.00001
NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe) rs1422779785 0.00001
NM_005120.3(MED12):c.3759G>T (p.Glu1253Asp) rs1350628654 0.00001
NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser) rs776373565 0.00001
NM_005120.3(MED12):c.3789G>C (p.Gln1263His) rs765481362 0.00001
NM_005120.3(MED12):c.3849G>T (p.Leu1283=) rs377409217 0.00001
NM_005120.3(MED12):c.3864A>G (p.Gln1288=) rs370431544 0.00001
NM_005120.3(MED12):c.3948G>A (p.Gln1316=) rs1359267668 0.00001
NM_005120.3(MED12):c.3956G>A (p.Arg1319His) rs1421325265 0.00001
NM_005120.3(MED12):c.3957C>A (p.Arg1319=) rs368549870 0.00001
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu) rs757845624 0.00001
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln) rs746705248 0.00001
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys) rs745627308 0.00001
NM_005120.3(MED12):c.4041T>C (p.Ile1347=) rs769884032 0.00001
NM_005120.3(MED12):c.4047+14G>A rs774488297 0.00001
NM_005120.3(MED12):c.4048-3C>T rs1248815559 0.00001
NM_005120.3(MED12):c.4077T>G (p.Ser1359=) rs902073429 0.00001
NM_005120.3(MED12):c.4087C>T (p.Leu1363=) rs2092317602 0.00001
NM_005120.3(MED12):c.4120-4C>G rs1253682531 0.00001
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val) rs1366165823 0.00001
NM_005120.3(MED12):c.4194A>G (p.Ser1398=) rs1319823223 0.00001
NM_005120.3(MED12):c.4197T>A (p.Ser1399=) rs1389363000 0.00001
NM_005120.3(MED12):c.4260A>G (p.Leu1420=) rs34299769 0.00001
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val) rs1420616432 0.00001
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu) rs1458136598 0.00001
NM_005120.3(MED12):c.4415+20G>A rs369776103 0.00001
NM_005120.3(MED12):c.4416-8G>T rs770256156 0.00001
NM_005120.3(MED12):c.4448C>T (p.Ser1483Leu) rs1488661030 0.00001
NM_005120.3(MED12):c.4470A>G (p.Lys1490=) rs766138859 0.00001
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=) rs2092322482 0.00001
NM_005120.3(MED12):c.4527+11C>G rs2092322513 0.00001
NM_005120.3(MED12):c.4527+19T>C rs2092322558 0.00001
NM_005120.3(MED12):c.4599C>G (p.Leu1533=) rs2092323060 0.00001
NM_005120.3(MED12):c.4617+3G>A rs748647968 0.00001
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu) rs151316557 0.00001
NM_005120.3(MED12):c.4637C>T (p.Thr1546Met) rs1423751717 0.00001
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482 0.00001
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967 0.00001
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile) rs2092327006 0.00001
NM_005120.3(MED12):c.4701C>T (p.Ser1567=) rs1365489216 0.00001
NM_005120.3(MED12):c.4727+18G>A rs367921627 0.00001
NM_005120.3(MED12):c.4728-10C>T rs1230205688 0.00001
NM_005120.3(MED12):c.4728-9C>T rs1398571708 0.00001
NM_005120.3(MED12):c.477C>T (p.Leu159=) rs1304010114 0.00001
NM_005120.3(MED12):c.4816A>G (p.Met1606Val) rs2092327985 0.00001
NM_005120.3(MED12):c.4827C>T (p.Asn1609=) rs779466860 0.00001
NM_005120.3(MED12):c.4863+19G>A rs1396684605 0.00001
NM_005120.3(MED12):c.4879C>T (p.Arg1627Cys) rs776748297 0.00001
NM_005120.3(MED12):c.4929G>A (p.Lys1643=) rs964113005 0.00001
NM_005120.3(MED12):c.492T>C (p.Cys164=) rs886039163 0.00001
NM_005120.3(MED12):c.4941T>C (p.Asp1647=) rs753148075 0.00001
NM_005120.3(MED12):c.4974C>T (p.Ile1658=) rs376179450 0.00001
NM_005120.3(MED12):c.5013C>T (p.Ile1671=) rs1569482185 0.00001
NM_005120.3(MED12):c.5025+20C>T rs778475053 0.00001
NM_005120.3(MED12):c.5026-13T>C rs1338117954 0.00001
NM_005120.3(MED12):c.5058G>A (p.Ser1686=) rs1346436513 0.00001
NM_005120.3(MED12):c.5087C>T (p.Pro1696Leu) rs1211195670 0.00001
NM_005120.3(MED12):c.5124C>A (p.Val1708=) rs775912778 0.00001
NM_005120.3(MED12):c.5134C>T (p.Arg1712Trp) rs763233945 0.00001
NM_005120.3(MED12):c.5139A>C (p.Arg1713=) rs751934349 0.00001
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 0.00001
NM_005120.3(MED12):c.5203C>T (p.Arg1735Cys) rs778386823 0.00001
NM_005120.3(MED12):c.5206G>A (p.Ala1736Thr) rs1042718707 0.00001
NM_005120.3(MED12):c.5210A>G (p.Tyr1737Cys) rs2092332758 0.00001
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val) rs1246253918 0.00001
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp) rs763136667 0.00001
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827 0.00001
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 0.00001
NM_005120.3(MED12):c.5343A>G (p.Glu1781=) rs750991975 0.00001
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys) rs1224410841 0.00001
NM_005120.3(MED12):c.5359A>T (p.Thr1787Ser) rs2092333189 0.00001
NM_005120.3(MED12):c.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5376C>T (p.Arg1792=) rs761137877 0.00001
NM_005120.3(MED12):c.5400+4A>G rs2092333252 0.00001
NM_005120.3(MED12):c.5400+9C>T rs774394462 0.00001
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys) rs375152466 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln) rs1432487094 0.00001
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu) rs761189421 0.00001
NM_005120.3(MED12):c.5511C>T (p.Gly1837=) rs1203496079 0.00001
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys) rs759956340 0.00001
NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys) rs200279192 0.00001
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00001
NM_005120.3(MED12):c.5592A>G (p.Pro1864=) rs1392245437 0.00001
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val) rs1326683020 0.00001
NM_005120.3(MED12):c.5613A>C (p.Arg1871=) rs767241359 0.00001
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser) rs758621985 0.00001
NM_005120.3(MED12):c.5679T>C (p.Tyr1893=) rs747217643 0.00001
NM_005120.3(MED12):c.5716C>G (p.Pro1906Ala) rs1028187089 0.00001
NM_005120.3(MED12):c.5745C>G (p.Leu1915=) rs1355147281 0.00001
NM_005120.3(MED12):c.5749-8C>T rs1385689270 0.00001
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser) rs1415832392 0.00001
NM_005120.3(MED12):c.5768G>T (p.Gly1923Val) rs1046757174 0.00001
NM_005120.3(MED12):c.579C>T (p.Tyr193=) rs1373255388 0.00001
NM_005120.3(MED12):c.5808C>T (p.Tyr1936=) rs757398839 0.00001
NM_005120.3(MED12):c.5827-15C>T rs1234497074 0.00001
NM_005120.3(MED12):c.5874C>T (p.Gly1958=) rs370235478 0.00001
NM_005120.3(MED12):c.5904C>T (p.Tyr1968=) rs2092336448 0.00001
NM_005120.3(MED12):c.5916T>C (p.Pro1972=) rs2092336480 0.00001
NM_005120.3(MED12):c.5952T>C (p.Leu1984=) rs2092336597 0.00001
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys) rs1009330609 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 0.00001
NM_005120.3(MED12):c.6028C>A (p.Leu2010Met) rs996284848 0.00001
NM_005120.3(MED12):c.6037A>C (p.Thr2013Pro) rs777453338 0.00001
NM_005120.3(MED12):c.6044+16G>C rs367904425 0.00001
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu) rs2092344632 0.00001
NM_005120.3(MED12):c.6060A>T (p.Thr2020=) rs751668146 0.00001
NM_005120.3(MED12):c.6112G>A (p.Val2038Ile) rs762612521 0.00001
NM_005120.3(MED12):c.6124G>A (p.Val2042Ile) rs755577187 0.00001
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly) rs2092344871 0.00001
NM_005120.3(MED12):c.6145C>A (p.Pro2049Thr) rs756758050 0.00001
NM_005120.3(MED12):c.6165G>A (p.Gln2055=) rs2092345036 0.00001
NM_005120.3(MED12):c.6168A>G (p.Gln2056=) rs745565325 0.00001
NM_005120.3(MED12):c.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 0.00001
NM_005120.3(MED12):c.6198G>A (p.Gln2066=) rs997158731 0.00001
NM_005120.3(MED12):c.6210G>A (p.Gln2070=) rs1229904793 0.00001
NM_005120.3(MED12):c.621A>T (p.Pro207=) rs1467258035 0.00001
NM_005120.3(MED12):c.6267+20T>C rs1032542640 0.00001
NM_005120.3(MED12):c.6268-3T>C rs752864888 0.00001
NM_005120.3(MED12):c.6273G>A (p.Gln2091=) rs1556340048 0.00001
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys) rs1359504788 0.00001
NM_005120.3(MED12):c.6306G>A (p.Gln2102=) rs1185667703 0.00001
NM_005120.3(MED12):c.6312G>A (p.Gln2104=) rs1416010935 0.00001
NM_005120.3(MED12):c.6315A>G (p.Gln2105=) rs1343388487 0.00001
NM_005120.3(MED12):c.6327G>A (p.Gln2109=) rs1333460909 0.00001
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val) rs1319238587 0.00001
NM_005120.3(MED12):c.6372G>A (p.Ala2124=) rs1008342661 0.00001
NM_005120.3(MED12):c.6391C>G (p.Pro2131Ala) rs748914486 0.00001
NM_005120.3(MED12):c.6399C>G (p.Ser2133=) rs1321273556 0.00001
NM_005120.3(MED12):c.6409-12A>G rs753048026 0.00001
NM_005120.3(MED12):c.6411C>T (p.Phe2137=) rs1213131764 0.00001
NM_005120.3(MED12):c.641G>A (p.Gly214Asp) rs1261616099 0.00001
NM_005120.3(MED12):c.6426T>G (p.Leu2142=) rs763374211 0.00001
NM_005120.3(MED12):c.6506C>A (p.Pro2169His) rs1362153313 0.00001
NM_005120.3(MED12):c.6527G>A (p.Arg2176His) rs746914362 0.00001
NM_005120.3(MED12):c.691C>T (p.Arg231Trp) rs1350320350 0.00001
NM_005120.3(MED12):c.6G>T (p.Ala2=) rs1186607917 0.00001
NM_005120.3(MED12):c.707C>T (p.Thr236Ile) rs1278481602 0.00001
NM_005120.3(MED12):c.736-3T>C rs2092288995 0.00001
NM_005120.3(MED12):c.751A>C (p.Arg251=) rs753413601 0.00001
NM_005120.3(MED12):c.76C>G (p.Pro26Ala) rs776154055 0.00001
NM_005120.3(MED12):c.796C>T (p.Arg266Cys) rs1222426673 0.00001
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252 0.00001
NM_005120.3(MED12):c.846+10G>A rs2519667333 0.00001
NM_005120.3(MED12):c.872C>A (p.Ala291Glu) rs754533515 0.00001
NM_005120.3(MED12):c.877C>T (p.Leu293=) rs764716429 0.00001
NM_005120.3(MED12):c.908G>A (p.Arg303Gln) rs1157525906 0.00001
NM_005120.3(MED12):c.959T>C (p.Ile320Thr) rs2519668246 0.00001
NM_005120.3(MED12):c.980C>T (p.Thr327Met) rs1330873923 0.00001
NM_005120.3(MED12):c.982C>T (p.Leu328=) rs767398040 0.00001
NC_000023.10:g.(?_41387096)_(41396627_?)del
NC_000023.10:g.(?_69748945)_(70644108_?)dup
NC_000023.10:g.(?_70337406)_(70363304_?)del
NC_000023.10:g.(?_70338585)_(70362088_?)del
NC_000023.10:g.(?_70338585)_(70362088_?)dup
NC_000023.10:g.(?_70338605)_(70362068_?)dup
NC_000023.10:g.(?_70348944)_(70350084_?)dup
NC_000023.10:g.(?_70348958)_(70350070_?)dup
NC_000023.10:g.(?_70348964)_(70350064_?)dup
NC_000023.11:g.(?_71118745)_(71142228_?)dup
NC_000023.11:g.(?_71118745)_(71224569_?)dup
NC_000023.11:g.71124975GTT[1] rs2519677498
NC_000023.11:g.71141229GCA[3] rs748394417
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3] rs773480549
NG_008054.1:g.(35701_?)_(?_50820)del
NM_001110556.2(FLNA):c.1204A>G (p.Thr402Ala) rs1569551838
NM_001110556.2(FLNA):c.1396C>T (p.Pro466Ser) rs1263621847
NM_001110556.2(FLNA):c.1479G>C (p.Lys493Asn) rs1557179001
NM_001110556.2(FLNA):c.1571G>A (p.Gly524Glu) rs1557178957
NM_001110556.2(FLNA):c.1684G>C (p.Gly562Arg) rs781806203
NM_001110556.2(FLNA):c.2416A>G (p.Ile806Val) rs2522749131
NM_001110556.2(FLNA):c.2464A>G (p.Ile822Val) rs2148114467
NM_001110556.2(FLNA):c.2792A>T (p.Asn931Ile) rs1557178134
NM_001110556.2(FLNA):c.289C>T (p.Pro97Ser)
NM_001110556.2(FLNA):c.3122A>G (p.Tyr1041Cys)
NM_001110556.2(FLNA):c.3256G>A (p.Ala1086Thr) rs782632029
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3495del (p.Ser1166fs) rs2522741180
NM_001110556.2(FLNA):c.3670C>T (p.Leu1224Phe) rs1557177690
NM_001110556.2(FLNA):c.4314C>G (p.Phe1438Leu) rs1557177412
NM_001110556.2(FLNA):c.4730A>G (p.Glu1577Gly) rs2148110326
NM_001110556.2(FLNA):c.494A>G (p.Lys165Arg) rs1569551874
NM_001110556.2(FLNA):c.5143C>T (p.Pro1715Ser) rs2148107445
NM_001110556.2(FLNA):c.5293C>T (p.Gln1765Ter)
NM_001110556.2(FLNA):c.5406C>T (p.Gly1802=) rs782099907
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648
NM_001110556.2(FLNA):c.568C>T (p.Arg190Trp)
NM_001110556.2(FLNA):c.6709_6710dup (p.Ala2238fs)
NM_001110556.2(FLNA):c.674C>T (p.Ala225Val)
NM_001110556.2(FLNA):c.7294G>A (p.Val2432Met) rs2148101224
NM_001110556.2(FLNA):c.7326T>C (p.Gly2442=) rs1026564714
NM_001367721.1(CASK):c.1082C>T (p.Thr361Ile) rs2518967628
NM_001367721.1(CASK):c.1394C>G (p.Ser465Cys) rs2147201432
NM_001367721.1(CASK):c.1424G>T (p.Ser475Ile) rs2147201250
NM_001367721.1(CASK):c.1447G>C (p.Glu483Gln)
NM_001367721.1(CASK):c.1466G>A (p.Arg489Gln) rs1602292076
NM_001367721.1(CASK):c.1504G>A (p.Gly502Arg) rs2147179382
NM_001367721.1(CASK):c.172+5_172+6delinsAT rs2519892333
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter) rs779508996
NM_001367721.1(CASK):c.1843-1G>A rs2519752309
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly) rs137852818
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys) rs398122844
NM_001367721.1(CASK):c.2243A>G (p.His748Arg) rs2064853222
NM_001367721.1(CASK):c.2311A>G (p.Ile771Val)
NM_001367721.1(CASK):c.2317+5G>A rs2147095645
NM_001367721.1(CASK):c.2324C>G (p.Thr775Ser) rs2519688829
NM_001367721.1(CASK):c.2434G>C (p.Glu812Gln) rs1235769310
NM_001367721.1(CASK):c.2482G>A (p.Glu828Lys) rs192044507
NM_001367721.1(CASK):c.2521-11del rs199560653
NM_001367721.1(CASK):c.2521-2A>G rs398122845
NM_001367721.1(CASK):c.2521-2A>T rs398122845
NM_001367721.1(CASK):c.2559T>A (p.Phe853Leu)
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala) rs1569283243
NM_001367721.1(CASK):c.2755T>C (p.Trp919Arg) rs137852819
NM_001367721.1(CASK):c.305A>G (p.Glu102Gly) rs1569429756
NM_001367721.1(CASK):c.364_365delinsGA (p.Met122Glu) rs2519495064
NM_001367721.1(CASK):c.464C>T (p.Ser155Leu) rs2519234687
NM_001367721.1(CASK):c.539T>A (p.Val180Asp) rs2519216387
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.761G>A (p.Arg254His) rs1569376084
NM_001367721.1(CASK):c.764G>A (p.Arg255His) rs587783369
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys) rs1602424843
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001367721.1(CASK):c.83G>T (p.Arg28Leu) rs137852816
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter) rs886128077
NM_001367721.1(CASK):c.847G>A (p.Ala283Thr) rs1012863843
NM_001367721.1(CASK):c.913_914dup (p.Gly306fs) rs1602386709
NM_001367721.1(CASK):c.916-1G>A rs2066382876
NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) rs757595052
NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) rs1601954686
NM_004463.3(FGD1):c.1197C>A (p.Phe399Leu) rs1273923746
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.1258G>A (p.Gly420Ser)
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) rs137853266
NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter) rs2147434002
NM_004463.3(FGD1):c.1341G>A (p.Trp447Ter) rs2522709643
NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys) rs2522709635
NM_004463.3(FGD1):c.1392dup (p.Lys465fs) rs2522709567
NM_004463.3(FGD1):c.1396A>G (p.Met466Val) rs137853267
NM_004463.3(FGD1):c.1409A>G (p.Tyr470Cys) rs2522709535
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.1432G>A (p.Val478Met) rs147008826
NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) rs1557189266
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) rs1601953661
NM_004463.3(FGD1):c.1555C>T (p.Arg519Cys) rs1557189252
NM_004463.3(FGD1):c.1564dup (p.Arg522fs) rs2522709066
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) rs1601953552
NM_004463.3(FGD1):c.1695+1G>A rs1922506770
NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) rs1557188567
NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) rs1601950673
NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) rs28935497
NM_004463.3(FGD1):c.1843-1G>A rs1601950553
NM_004463.3(FGD1):c.1906C>T (p.Arg636Trp) rs759075971
NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) rs387906718
NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs) rs2522698958
NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) rs1557188473
NM_004463.3(FGD1):c.2016-36A>T rs2522693895
NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) rs1922347865
NM_004463.3(FGD1):c.2046G>T (p.Gln682His) rs2522693773
NM_004463.3(FGD1):c.2154G>A (p.Val718=) rs2522692247
NM_004463.3(FGD1):c.2192del (p.Lys731fs) rs2522692204
NM_004463.3(FGD1):c.2268C>A (p.Cys756Ter) rs61734178
NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) rs2147422996
NM_004463.3(FGD1):c.2318A>G (p.Tyr773Cys) rs2522691559
NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg) rs1922307661
NM_004463.3(FGD1):c.2501dup (p.Gly835fs) rs2522688418
NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter) rs2522688358
NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys) rs2522688187
NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr) rs947732354
NM_004463.3(FGD1):c.2647C>T (p.Arg883Trp) rs1295137376
NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter) rs2522684473
NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter) rs869312743
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004463.3(FGD1):c.2784dup (p.Pro929fs) rs2522683950
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) rs910374883
NM_004463.3(FGD1):c.420del (p.Thr141fs)
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) rs1029761293
NM_004463.3(FGD1):c.492G>T (p.Lys164Asn) rs2147435731
NM_004463.3(FGD1):c.527del (p.Pro176fs) rs756586058
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.545del (p.Pro182fs) rs1922869724
NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) rs773941303
NM_004463.3(FGD1):c.628G>T (p.Ala210Ser)
NM_004463.3(FGD1):c.679del (p.Ser227fs) rs1922859149
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_004463.3(FGD1):c.944dup (p.Ala316fs) rs1569541255
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6300_6329del rs773480549
NM_005120.3(MED12):c.100-11T>G rs2519660475
NM_005120.3(MED12):c.100-15G>A
NM_005120.3(MED12):c.100-15G>T rs757311606
NM_005120.3(MED12):c.100-15_100-14delinsAA rs2147769578
NM_005120.3(MED12):c.100-15_100-14delinsTT rs2147769578
NM_005120.3(MED12):c.100-2A>T rs2147769775
NM_005120.3(MED12):c.100-5C>T
NM_005120.3(MED12):c.1007C>T (p.Pro336Leu)
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser) rs2519668528
NM_005120.3(MED12):c.1011A>G (p.Pro337=) rs749348331
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala) rs2519668546
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile) rs2092289912
NM_005120.3(MED12):c.1022C>T (p.Thr341Ile) rs774518546
NM_005120.3(MED12):c.1026C>T (p.Pro342=) rs2092289951
NM_005120.3(MED12):c.1029G>A (p.Ser343=) rs2147780264
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys) rs1467434848
NM_005120.3(MED12):c.1068G>T (p.Arg356=) rs757086557
NM_005120.3(MED12):c.106C>A (p.Leu36Met) rs2147769903
NM_005120.3(MED12):c.1077T>G (p.Val359=) rs1193088161
NM_005120.3(MED12):c.1083C>T (p.Gly361=)
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr) rs2147780559
NM_005120.3(MED12):c.1101+13C>T
NM_005120.3(MED12):c.1101+14G>C rs745671946
NM_005120.3(MED12):c.1101+16G>A rs909813295
NM_005120.3(MED12):c.1101+3A>G rs2092290132
NM_005120.3(MED12):c.1102-20T>C rs2147781663
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile) rs2147781725
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.111G>T (p.Thr37=)
NM_005120.3(MED12):c.1131G>A (p.Leu377=) rs755897379
NM_005120.3(MED12):c.1135T>G (p.Trp379Gly)
NM_005120.3(MED12):c.1146A>G (p.Ser382=)
NM_005120.3(MED12):c.117G>A (p.Leu39=)
NM_005120.3(MED12):c.1193C>T (p.Pro398Leu)
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1217T>C (p.Met406Thr) rs2519669935
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala) rs2519670002
NM_005120.3(MED12):c.1248+13A>G rs770420687
NM_005120.3(MED12):c.1248+14C>T
NM_005120.3(MED12):c.1248+7C>G rs2147782206
NM_005120.3(MED12):c.1249-1G>C rs2147783158
NM_005120.3(MED12):c.1249-4G>T rs1272068008
NM_005120.3(MED12):c.1249-7A>G rs2519670453
NM_005120.3(MED12):c.1249G>A (p.Val417Ile) rs2147783166
NM_005120.3(MED12):c.1252C>T (p.Arg418Cys) rs2147783217
NM_005120.3(MED12):c.1257A>C (p.Ala419=) rs754943978
NM_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro) rs777865279
NM_005120.3(MED12):c.1300G>C (p.Ala434Pro) rs2147783775
NM_005120.3(MED12):c.1314C>T (p.Arg438=) rs2147783953
NM_005120.3(MED12):c.1328A>G (p.Lys443Arg) rs2092292301
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del) rs2519660903
NM_005120.3(MED12):c.1348+14A>C rs937971791
NM_005120.3(MED12):c.135C>T (p.Phe45=) rs2147770770
NM_005120.3(MED12):c.1374T>C (p.His458=) rs2519671556
NM_005120.3(MED12):c.1377T>A (p.Thr459=) rs764293738
NM_005120.3(MED12):c.137A>C (p.Asn46Thr) rs769095144
NM_005120.3(MED12):c.1409G>A (p.Arg470His) rs2147785239
NM_005120.3(MED12):c.1416C>T (p.Asp472=) rs1569481100
NM_005120.3(MED12):c.1419C>T (p.Phe473=)
NM_005120.3(MED12):c.1425C>T (p.Asn475=) rs2092292975
NM_005120.3(MED12):c.1432G>A (p.Asp478Asn) rs2092293014
NM_005120.3(MED12):c.1434C>G (p.Asp478Glu) rs2147785352
NM_005120.3(MED12):c.1438C>G (p.Leu480Val) rs369762911
NM_005120.3(MED12):c.1439T>C (p.Leu480Pro) rs2092293046
NM_005120.3(MED12):c.1448G>A (p.Arg483Gln) rs1456174589
NM_005120.3(MED12):c.144G>A (p.Gln48=) rs2147770930
NM_005120.3(MED12):c.1476T>C (p.Asp492=) rs1602295711
NM_005120.3(MED12):c.1485+11A>G rs2092293157
NM_005120.3(MED12):c.1485+20G>C rs2519671938
NM_005120.3(MED12):c.1485+7G>A rs2092293131
NM_005120.3(MED12):c.1485+9A>G rs1602295737
NM_005120.3(MED12):c.1486-13C>T rs2092293812
NM_005120.3(MED12):c.1486-4C>A rs2519672630
NM_005120.3(MED12):c.1514C>T (p.Ser505Leu)
NM_005120.3(MED12):c.1536C>T (p.Val512=) rs942361290
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys) rs1569481124
NM_005120.3(MED12):c.1547G>A (p.Arg516His) rs1556334969
NM_005120.3(MED12):c.1554T>A (p.Gly518=) rs2147786408
NM_005120.3(MED12):c.1561C>T (p.Arg521Cys) rs1602295979
NM_005120.3(MED12):c.1581G>A (p.Lys527=) rs2147786476
NM_005120.3(MED12):c.158G>A (p.Gly53Glu)
NM_005120.3(MED12):c.15G>C (p.Gly5=) rs2147766496
NM_005120.3(MED12):c.1612G>T (p.Ala538Ser) rs2147786567
NM_005120.3(MED12):c.1617+16T>A rs2092294130
NM_005120.3(MED12):c.1617+20A>T
NM_005120.3(MED12):c.1617+8G>T rs2092294094
NM_005120.3(MED12):c.1618-18_1618-15del rs1285811923
NM_005120.3(MED12):c.1622G>A (p.Cys541Tyr) rs2519673758
NM_005120.3(MED12):c.1623T>C (p.Cys541=)
NM_005120.3(MED12):c.1633G>C (p.Glu545Gln) rs2147787733
NM_005120.3(MED12):c.1636G>C (p.Ala546Pro) rs1602296337
NM_005120.3(MED12):c.1639G>T (p.Ala547Ser) rs370812643
NM_005120.3(MED12):c.1640C>T (p.Ala547Val) rs2519673810
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr) rs863223709
NM_005120.3(MED12):c.1666G>A (p.Gly556Ser) rs2092295382
NM_005120.3(MED12):c.1671C>T (p.Ser557=) rs1556335123
NM_005120.3(MED12):c.1688C>T (p.Ala563Val)
NM_005120.3(MED12):c.1704T>A (p.Asp568Glu) rs2519674031
NM_005120.3(MED12):c.170G>A (p.Gly57Asp)
NM_005120.3(MED12):c.171C>T (p.Gly57=) rs1325215627
NM_005120.3(MED12):c.1744+10C>T rs769537760
NM_005120.3(MED12):c.1744+17C>T
NM_005120.3(MED12):c.1744+5G>A rs368353373
NM_005120.3(MED12):c.1744+5G>T
NM_005120.3(MED12):c.1744+6G>A rs745352764
NM_005120.3(MED12):c.1745-10C>T rs2147789290
NM_005120.3(MED12):c.1767G>C (p.Glu589Asp) rs2147789356
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu) rs2519675209
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly) rs2519675271
NM_005120.3(MED12):c.1815A>G (p.Arg605=)
NM_005120.3(MED12):c.1839G>A (p.Met613Ile) rs2519675367
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala) rs2519675376
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile) rs1406530332
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.1854C>T (p.Leu618=) rs775882680
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.1875C>T (p.Ala625=) rs2519675474
NM_005120.3(MED12):c.1889G>T (p.Gly630Val) rs2519675509
NM_005120.3(MED12):c.1892C>A (p.Pro631His)
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu) rs1057524167
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr) rs2519675574
NM_005120.3(MED12):c.1922C>T (p.Ala641Val) rs2519675582
NM_005120.3(MED12):c.1923C>G (p.Ala641=) rs754725206
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn) rs1556335288
NM_005120.3(MED12):c.1924_1974+17dup rs2519675600
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) rs950787066
NM_005120.3(MED12):c.1935G>A (p.Glu645=) rs376986062
NM_005120.3(MED12):c.1941G>C (p.Lys647Asn) rs1340181134
NM_005120.3(MED12):c.1943A>C (p.Glu648Ala) rs746981338
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro) rs2519675677
NM_005120.3(MED12):c.1947T>C (p.Ala649=)
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del) rs752904587
NM_005120.3(MED12):c.1956C>G (p.Ser652Arg)
NM_005120.3(MED12):c.1960A>G (p.Ser654Gly)
NM_005120.3(MED12):c.1962C>T (p.Ser654=) rs2519675747
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg) rs2519675762
NM_005120.3(MED12):c.196C>A (p.Pro66Thr)
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro) rs2147790051
NM_005120.3(MED12):c.1974+20C>T
NM_005120.3(MED12):c.1974+7G>A rs2519675786
NM_005120.3(MED12):c.1975-16T>C rs2519676854
NM_005120.3(MED12):c.1975-9T>C rs998923247
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe) rs754495912
NM_005120.3(MED12):c.1986C>T (p.Leu662=) rs777329342
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961
NM_005120.3(MED12):c.2009C>A (p.Pro670His) rs2519677014
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) rs1307587368
NM_005120.3(MED12):c.2035A>G (p.Met679Val) rs2519677087
NM_005120.3(MED12):c.2036T>C (p.Met679Thr)
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.204+14G>C rs2519661532
NM_005120.3(MED12):c.204+9A>G rs1569480794
NM_005120.3(MED12):c.2044C>A (p.Pro682Thr)
NM_005120.3(MED12):c.205-11T>G rs1475582609
NM_005120.3(MED12):c.205-15C>T
NM_005120.3(MED12):c.205-17C>T rs1168769673
NM_005120.3(MED12):c.2055+20T>C rs746790418
NM_005120.3(MED12):c.2056-16C>G rs2519677472
NM_005120.3(MED12):c.2082G>A (p.Glu694=) rs2519677592
NM_005120.3(MED12):c.2091C>T (p.Gly697=) rs2147791557
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys) rs768834535
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del) rs1261680398
NM_005120.3(MED12):c.2128_2130del (p.Val710del)
NM_005120.3(MED12):c.2143A>G (p.Lys715Glu) rs773699580
NM_005120.3(MED12):c.2145G>A (p.Lys715=)
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln) rs2519677834
NM_005120.3(MED12):c.2153T>C (p.Ile718Thr)
NM_005120.3(MED12):c.216C>T (p.Asn72=) rs2519662292
NM_005120.3(MED12):c.2189G>A (p.Arg730Gln)
NM_005120.3(MED12):c.2193C>T (p.His731=) rs2092299451
NM_005120.3(MED12):c.2194G>T (p.Val732Leu) rs750304793
NM_005120.3(MED12):c.2199G>A (p.Gln733=) rs2092299475
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2223C>T (p.Pro741=)
NM_005120.3(MED12):c.2227-11C>A
NM_005120.3(MED12):c.2235A>G (p.Ser745=) rs2519679054
NM_005120.3(MED12):c.2247G>A (p.Glu749=) rs2519679100
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005120.3(MED12):c.2260T>C (p.Leu754=) rs1196907683
NM_005120.3(MED12):c.2263G>A (p.Val755Ile) rs2519679184
NM_005120.3(MED12):c.2268A>G (p.Val756=)
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2271G>C (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg) rs2147792896
NM_005120.3(MED12):c.2286G>A (p.Lys762=) rs1602297586
NM_005120.3(MED12):c.2296G>T (p.Asp766Tyr) rs2147792986
NM_005120.3(MED12):c.2303G>A (p.Arg768His) rs1482172384
NM_005120.3(MED12):c.2325C>G (p.Thr775=) rs2147793224
NM_005120.3(MED12):c.2337G>A (p.Leu779=)
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg) rs2147793402
NM_005120.3(MED12):c.2371+13C>T rs1279470736
NM_005120.3(MED12):c.2371+4G>C rs2092300571
NM_005120.3(MED12):c.2372-10C>G rs752691764
NM_005120.3(MED12):c.2372-12C>T
NM_005120.3(MED12):c.2372-15T>A rs2519680429
NM_005120.3(MED12):c.2372-17_2372-6del rs2519680367
NM_005120.3(MED12):c.2372-8C>G rs1464348698
NM_005120.3(MED12):c.2372-8del
NM_005120.3(MED12):c.2372-8dup rs1457000276
NM_005120.3(MED12):c.2372-9C>A rs758698633
NM_005120.3(MED12):c.2372-9C>G rs758698633
NM_005120.3(MED12):c.2374C>A (p.Gln792Lys)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2409C>A (p.Asp803Glu)
NM_005120.3(MED12):c.2409C>G (p.Asp803Glu)
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg) rs2092301265
NM_005120.3(MED12):c.2422+11G>A rs2519680747
NM_005120.3(MED12):c.2422+17C>T
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.2436G>A (p.Gly812=) rs2519682000
NM_005120.3(MED12):c.244C>G (p.Arg82Gly) rs1266838743
NM_005120.3(MED12):c.2451C>A (p.Arg817=) rs2147795617
NM_005120.3(MED12):c.2457G>A (p.Arg819=) rs2147795650
NM_005120.3(MED12):c.2466C>T (p.Ala822=) rs2147795665
NM_005120.3(MED12):c.2467T>G (p.Phe823Val) rs2519682063
NM_005120.3(MED12):c.2469C>T (p.Phe823=) rs2147795677
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser) rs2519682086
NM_005120.3(MED12):c.2478T>C (p.Ala826=) rs2147795724
NM_005120.3(MED12):c.2481A>G (p.Glu827=) rs2147795738
NM_005120.3(MED12):c.2491G>A (p.Ala831Thr)
NM_005120.3(MED12):c.2501A>G (p.Gln834Arg)
NM_005120.3(MED12):c.2511A>C (p.Ser837=)
NM_005120.3(MED12):c.2529G>C (p.Gln843His) rs2147795833
NM_005120.3(MED12):c.2532C>G (p.Val844=) rs1269805533
NM_005120.3(MED12):c.2534C>T (p.Thr845Met) rs750730080
NM_005120.3(MED12):c.2535G>C (p.Thr845=) rs915335433
NM_005120.3(MED12):c.2541+13G>C rs2147795910
NM_005120.3(MED12):c.2542-19C>T rs2519682711
NM_005120.3(MED12):c.2542-4T>G rs2147796325
NM_005120.3(MED12):c.2542-9C>G
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2548C>T (p.Arg850Trp)
NM_005120.3(MED12):c.2549G>A (p.Arg850Gln) rs2092303365
NM_005120.3(MED12):c.2559G>A (p.Leu853=) rs2147796383
NM_005120.3(MED12):c.2568C>T (p.Ile856=) rs746727639
NM_005120.3(MED12):c.2570C>T (p.Thr857Met) rs2519682815
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg) rs776541226
NM_005120.3(MED12):c.2608G>A (p.Val870Met)
NM_005120.3(MED12):c.2616T>C (p.His872=) rs2519682955
NM_005120.3(MED12):c.2619G>A (p.Val873=) rs763140070
NM_005120.3(MED12):c.2622G>A (p.Gln874=) rs2519682975
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu) rs751190759
NM_005120.3(MED12):c.2652C>T (p.Leu884=) rs2092303510
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2667C>T (p.Leu889=) rs2092303530
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn) rs2147796647
NM_005120.3(MED12):c.2670C>T (p.Ile890=) rs1602298322
NM_005120.3(MED12):c.267T>C (p.Thr89=) rs2519662421
NM_005120.3(MED12):c.2685+6G>A rs2147796689
NM_005120.3(MED12):c.2686-14G>A
NM_005120.3(MED12):c.2686-17C>G rs2519684252
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2706A>G (p.Val902=)
NM_005120.3(MED12):c.2729A>G (p.Lys910Arg) rs763052446
NM_005120.3(MED12):c.272G>A (p.Arg91His) rs1057524478
NM_005120.3(MED12):c.272G>T (p.Arg91Leu) rs1057524478
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu) rs2147797835
NM_005120.3(MED12):c.2737G>C (p.Asp913His)
NM_005120.3(MED12):c.2766G>A (p.Leu922=)
NM_005120.3(MED12):c.2781G>A (p.Val927=)
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2817C>T (p.Leu939=) rs2092305177
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.2835A>G (p.Ala945=) rs2147798522
NM_005120.3(MED12):c.2850-16T>C rs2519685968
NM_005120.3(MED12):c.2850G>T (p.Gly950=) rs2147799254
NM_005120.3(MED12):c.285A>G (p.Gln95=) rs1569480827
NM_005120.3(MED12):c.2860G>A (p.Val954Ile) rs2147799274
NM_005120.3(MED12):c.2861T>G (p.Val954Gly) rs2147799283
NM_005120.3(MED12):c.2871T>C (p.His957=) rs1602298730
NM_005120.3(MED12):c.2873G>A (p.Gly958Glu) rs397515554
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe) rs2147799414
NM_005120.3(MED12):c.2899G>A (p.Ala967Thr) rs1009027587
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys) rs2519686197
NM_005120.3(MED12):c.2913C>T (p.Ile971=) rs2519686222
NM_005120.3(MED12):c.2952T>C (p.His984=) rs1341383851
NM_005120.3(MED12):c.2964A>G (p.Lys988=) rs1346914696
NM_005120.3(MED12):c.2981+8A>T
NM_005120.3(MED12):c.2981+9G>C rs900780364
NM_005120.3(MED12):c.2982-14C>T rs2519687455
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro) rs2147800674
NM_005120.3(MED12):c.299A>T (p.Asp100Val) rs2519662513
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile) rs2519687600
NM_005120.3(MED12):c.3009C>A (p.Thr1003=) rs375493995
NM_005120.3(MED12):c.300T>C (p.Asp100=) rs2147773351
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser) rs80338759
NM_005120.3(MED12):c.3021C>T (p.Asn1007=) rs2092307487
NM_005120.3(MED12):c.3039A>C (p.Ser1013=) rs2519687677
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val) rs879255526
NM_005120.3(MED12):c.3069C>A (p.Ile1023=) rs753751305
NM_005120.3(MED12):c.3069C>G (p.Ile1023Met) rs753751305
NM_005120.3(MED12):c.3070G>A (p.Asp1024Asn) rs1469572055
NM_005120.3(MED12):c.3105C>G (p.Thr1035=) rs2519687833
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala) rs2147800946
NM_005120.3(MED12):c.310C>T (p.Leu104=) rs2147773383
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3129T>G (p.Leu1043=) rs2519687901
NM_005120.3(MED12):c.3129del (p.Ser1044fs)
NM_005120.3(MED12):c.3156C>T (p.Ser1052=) rs1289780259
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser) rs2147801044
NM_005120.3(MED12):c.3195C>T (p.His1065=) rs2147801102
NM_005120.3(MED12):c.3200A>T (p.Asp1067Val)
NM_005120.3(MED12):c.3209+6G>A rs781239785
NM_005120.3(MED12):c.3209+7G>T rs2147801168
NM_005120.3(MED12):c.320C>T (p.Ala107Val) rs2092284960
NM_005120.3(MED12):c.3210-20G>A rs1032124326
NM_005120.3(MED12):c.3210-5_3210-4insGGAA
NM_005120.3(MED12):c.3210-7T>C rs2519688628
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val) rs2092308336
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met) rs374156594
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3246C>G (p.Thr1082=) rs1458589762
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.327C>T (p.Ser109=) rs2147773492
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser) rs2519689107
NM_005120.3(MED12):c.3297G>A (p.Leu1099=) rs2092308440
NM_005120.3(MED12):c.3322T>A (p.Cys1108Ser)
NM_005120.3(MED12):c.3354+11G>A
NM_005120.3(MED12):c.3354T>C (p.Asp1118=)
NM_005120.3(MED12):c.3355-11T>C rs757238633
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.3355-18G>C
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.336C>T (p.Ala112=) rs2519662621
NM_005120.3(MED12):c.3381G>A (p.Ser1127=) rs369946933
NM_005120.3(MED12):c.3390T>G (p.Thr1130=) rs2519689992
NM_005120.3(MED12):c.3393T>C (p.Phe1131=) rs1392356615
NM_005120.3(MED12):c.3399C>T (p.Ala1133=) rs1042095169
NM_005120.3(MED12):c.33C>A (p.His11Gln) rs1018272698
NM_005120.3(MED12):c.3412C>A (p.Arg1138=) rs1057523906
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp) rs1057523906
NM_005120.3(MED12):c.3426C>T (p.Leu1142=) rs779981418
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys) rs2147803693
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3476-12T>C rs2519691266
NM_005120.3(MED12):c.3476-6T>A rs2519691281
NM_005120.3(MED12):c.3480T>C (p.Cys1160=) rs1463883892
NM_005120.3(MED12):c.3488dup (p.Asp1164fs) rs2519691305
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) rs387907361
NM_005120.3(MED12):c.3498G>A (p.Glu1166=) rs1556336751
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser) rs1602299778
NM_005120.3(MED12):c.3508C>T (p.Arg1170Trp) rs1389138246
NM_005120.3(MED12):c.3509G>A (p.Arg1170Gln) rs2147804813
NM_005120.3(MED12):c.3516C>A (p.Thr1172=) rs1057521581
NM_005120.3(MED12):c.3525C>G (p.Ile1175Met)
NM_005120.3(MED12):c.3546A>G (p.Thr1182=) rs2519691469
NM_005120.3(MED12):c.3549G>A (p.Pro1183=) rs756037504
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys) rs2092310627
NM_005120.3(MED12):c.3564C>T (p.Cys1188=)
NM_005120.3(MED12):c.3566A>G (p.Gln1189Arg) rs2147804938
NM_005120.3(MED12):c.3567G>T (p.Gln1189His) rs2147804945
NM_005120.3(MED12):c.3578-11G>A rs773929139
NM_005120.3(MED12):c.3578-11G>T rs773929139
NM_005120.3(MED12):c.3578-13T>C
NM_005120.3(MED12):c.3582G>A (p.Lys1194=) rs1060504499
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys) rs1556336812
NM_005120.3(MED12):c.3598C>T (p.Arg1200Cys) rs1304464082
NM_005120.3(MED12):c.3603C>T (p.Ser1201=)
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr) rs2092310992
NM_005120.3(MED12):c.3618C>T (p.His1206=) rs2519692204
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val) rs2092311035
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val) rs2147805714
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys) rs2092311077
NM_005120.3(MED12):c.3641G>A (p.Arg1214His) rs2092311084
NM_005120.3(MED12):c.3646G>A (p.Val1216Met) rs2147805923
NM_005120.3(MED12):c.3653G>A (p.Gly1218Glu) rs2147805960
NM_005120.3(MED12):c.3654A>G (p.Gly1218=) rs1283088148
NM_005120.3(MED12):c.3658G>A (p.Val1220Met) rs1236099919
NM_005120.3(MED12):c.3691+10T>C rs759465751
NM_005120.3(MED12):c.3691+20G>A
NM_005120.3(MED12):c.3691+4C>A
NM_005120.3(MED12):c.3691+9dup rs966516434
NM_005120.3(MED12):c.3692-16C>T rs2147807080
NM_005120.3(MED12):c.3692-17C>T rs2519693419
NM_005120.3(MED12):c.3692-5C>T rs2519693490
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile) rs2519693640
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu) rs1448832950
NM_005120.3(MED12):c.3734G>A (p.Gly1245Glu) rs1189111600
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val) rs2519693680
NM_005120.3(MED12):c.3760G>A (p.Gly1254Arg) rs1459632977
NM_005120.3(MED12):c.3762AGG[1] (p.Gly1257del) rs1602300077
NM_005120.3(MED12):c.3766G>A (p.Gly1256Ser)
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val) rs2147807429
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp) rs2092312257
NM_005120.3(MED12):c.378C>T (p.Leu126=) rs2147773690
NM_005120.3(MED12):c.3795C>T (p.Gly1265=) rs763317363
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His) rs2147807577
NM_005120.3(MED12):c.37C>T (p.Pro13Ser) rs2092281481
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser) rs752008407
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val) rs1258793313
NM_005120.3(MED12):c.3807T>C (p.Ser1269=) rs1319771105
NM_005120.3(MED12):c.3808G>C (p.Val1270Leu)
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp) rs2519693986
NM_005120.3(MED12):c.3817G>A (p.Ala1273Thr)
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly) rs2147807641
NM_005120.3(MED12):c.3823C>T (p.Leu1275=) rs2519694022
NM_005120.3(MED12):c.3834T>C (p.Tyr1278=)
NM_005120.3(MED12):c.3852C>T (p.Arg1284=)
NM_005120.3(MED12):c.3861C>T (p.Cys1287=) rs747604195
NM_005120.3(MED12):c.3867+10_3867+11del rs2147807790
NM_005120.3(MED12):c.3867+20C>T
NM_005120.3(MED12):c.3868-11A>G rs1602300284
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys) rs863223706
NM_005120.3(MED12):c.3884G>A (p.Arg1295His) rs1556337063
NM_005120.3(MED12):c.3919C>G (p.Leu1307Val) rs2519694888
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr) rs2519694977
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005120.3(MED12):c.3951G>T (p.Ala1317=) rs755194632
NM_005120.3(MED12):c.3955C>T (p.Arg1319Cys) rs901783069
NM_005120.3(MED12):c.396+9C>A
NM_005120.3(MED12):c.3960C>T (p.Leu1320=) rs2519695048
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.397-19A>C
NM_005120.3(MED12):c.397-7C>T rs2092285587
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.3990G>C (p.Leu1330=) rs1290030432
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser) rs2519695195
NM_005120.3(MED12):c.399C>A (p.Val133=) rs754050535
NM_005120.3(MED12):c.4001A>G (p.Glu1334Gly)
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4037G>A (p.Arg1346His)
NM_005120.3(MED12):c.4048-11C>G rs2519698000
NM_005120.3(MED12):c.4048-11dup rs1213691583
NM_005120.3(MED12):c.4048-1G>A rs2092317530
NM_005120.3(MED12):c.4048-20G>T rs1207596143
NM_005120.3(MED12):c.4048-7A>G
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp) rs2519698035
NM_005120.3(MED12):c.4050C>T (p.Asn1350=)
NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys) rs1474736821
NM_005120.3(MED12):c.4070G>A (p.Arg1357His) rs2147811858
NM_005120.3(MED12):c.4074G>A (p.Gln1358=) rs2147811874
NM_005120.3(MED12):c.4076C>A (p.Ser1359Tyr) rs2519698092
NM_005120.3(MED12):c.4080C>T (p.Ser1360=) rs2147811888
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln) rs2519698118
NM_005120.3(MED12):c.4096A>C (p.Met1366Leu)
NM_005120.3(MED12):c.4100T>C (p.Ile1367Thr)
NM_005120.3(MED12):c.4116C>T (p.Asn1372=) rs2519698207
NM_005120.3(MED12):c.4119+18C>T
NM_005120.3(MED12):c.4119+8G>A
NM_005120.3(MED12):c.4120-10T>C
NM_005120.3(MED12):c.4120-11A>C rs773425479
NM_005120.3(MED12):c.4120-17C>A rs2092318902
NM_005120.3(MED12):c.4120-5C>T rs2147813260
NM_005120.3(MED12):c.4120-7T>A rs2147813240
NM_005120.3(MED12):c.4120-7T>C rs2147813240
NM_005120.3(MED12):c.4123A>G (p.Met1375Val) rs2519699221
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile) rs2519699362
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr) rs2147813419
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe) rs2092319134
NM_005120.3(MED12):c.4208C>A (p.Thr1403Asn) rs2147813483
NM_005120.3(MED12):c.4210G>A (p.Ala1404Thr) rs2147813494
NM_005120.3(MED12):c.4220T>G (p.Met1407Arg) rs2092319173
NM_005120.3(MED12):c.4223C>T (p.Pro1408Leu) rs2519699502
NM_005120.3(MED12):c.4245T>C (p.Pro1415=) rs2147813683
NM_005120.3(MED12):c.4253+20G>C
NM_005120.3(MED12):c.4253+3C>T
NM_005120.3(MED12):c.4254-11_4254-8del rs772021255
NM_005120.3(MED12):c.4254-5T>A rs2092319756
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro) rs2147814288
NM_005120.3(MED12):c.4281G>A (p.Leu1427=)
NM_005120.3(MED12):c.4284G>A (p.Val1428=)
NM_005120.3(MED12):c.4290C>T (p.Pro1430=) rs2147814427
NM_005120.3(MED12):c.4291C>G (p.Leu1431Val)
NM_005120.3(MED12):c.4320G>A (p.Gln1440=)
NM_005120.3(MED12):c.4325A>G (p.His1442Arg) rs2092319892
NM_005120.3(MED12):c.4326T>C (p.His1442=)
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly) rs2519700444
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val) rs2519700460
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu) rs2147814559
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys) rs2519663596
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln) rs1488533087
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) rs2092320033
NM_005120.3(MED12):c.4415+11T>A rs2519700637
NM_005120.3(MED12):c.4415+9G>A rs2519700628
NM_005120.3(MED12):c.4416-13C>T rs781326469
NM_005120.3(MED12):c.4416-16_4416-15insC rs58328145
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC rs58328145
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC rs58328145
NM_005120.3(MED12):c.4416-20C>T rs2092322197
NM_005120.3(MED12):c.4416-38_4416-14del
NM_005120.3(MED12):c.4416-42_4416-15del
NM_005120.3(MED12):c.4416-42_4416-9del rs769835998
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4416-7T>A rs2519702231
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr) rs2519702252
NM_005120.3(MED12):c.4426T>C (p.Leu1476=)
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu) rs2519702331
NM_005120.3(MED12):c.4477G>A (p.Asp1493Asn)
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys) rs759105512
NM_005120.3(MED12):c.4488C>A (p.Arg1496=) rs531754497
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys) rs868164882
NM_005120.3(MED12):c.4491G>A (p.Glu1497=) rs2519702485
NM_005120.3(MED12):c.4509C>T (p.Leu1503=) rs2147817069
NM_005120.3(MED12):c.4527+14G>A rs752411612
NM_005120.3(MED12):c.4527+15G>A
NM_005120.3(MED12):c.4527+16C>T rs2147817137
NM_005120.3(MED12):c.4527+18A>G rs372687896
NM_005120.3(MED12):c.4527+4C>T
NM_005120.3(MED12):c.4533G>A (p.Val1511=)
NM_005120.3(MED12):c.4543C>A (p.Arg1515=) rs2147817549
NM_005120.3(MED12):c.454C>T (p.Pro152Ser) rs2147774389
NM_005120.3(MED12):c.4584T>C (p.Leu1528=) rs1220815401
NM_005120.3(MED12):c.4593G>A (p.Glu1531=) rs2092323049
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.4617+13G>C rs776250297
NM_005120.3(MED12):c.4618-13G>T rs2092326848
NM_005120.3(MED12):c.4618-19C>T rs2147820564
NM_005120.3(MED12):c.4618-9C>T
NM_005120.3(MED12):c.4620G>A (p.Val1540=) rs756385578
NM_005120.3(MED12):c.4623G>A (p.Gly1541=) rs2147820728
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu) rs1352773471
NM_005120.3(MED12):c.4662C>A (p.Thr1554=) rs2147820972
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg) rs794727576
NM_005120.3(MED12):c.466G>A (p.Ala156Thr) rs2147774436
NM_005120.3(MED12):c.4683C>T (p.Leu1561=)
NM_005120.3(MED12):c.4684C>T (p.Leu1562=) rs2519706389
NM_005120.3(MED12):c.4692C>A (p.Ile1564=)
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala) rs2519706630
NM_005120.3(MED12):c.4728-6T>A rs2519707568
NM_005120.3(MED12):c.4728T>C (p.Asn1576=) rs2519707581
NM_005120.3(MED12):c.4743T>A (p.Thr1581=) rs1296958553
NM_005120.3(MED12):c.4762G>A (p.Val1588Met) rs767396596
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu) rs767396596
NM_005120.3(MED12):c.4764G>A (p.Val1588=) rs750517588
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser) rs2147822394
NM_005120.3(MED12):c.4776G>A (p.Gly1592=)
NM_005120.3(MED12):c.4779A>G (p.Thr1593=) rs2519707717
NM_005120.3(MED12):c.4780T>C (p.Leu1594=)
NM_005120.3(MED12):c.478A>G (p.Ile160Val) rs2519663783
NM_005120.3(MED12):c.4796C>T (p.Ser1599Phe)
NM_005120.3(MED12):c.4806G>A (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.4806G>C (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.4806G>T (p.Ser1602=) rs755218771
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg) rs2092328003
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4836A>C (p.Ala1612=)
NM_005120.3(MED12):c.4854G>A (p.Lys1618=)
NM_005120.3(MED12):c.4863+1G>A rs2147822607
NM_005120.3(MED12):c.4863+20G>A
NM_005120.3(MED12):c.4863+7A>G rs2147822616
NM_005120.3(MED12):c.4864-12del rs2519708489
NM_005120.3(MED12):c.487A>G (p.Thr163Ala)
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly) rs2519708590
NM_005120.3(MED12):c.489C>A (p.Thr163=) rs2147774511
NM_005120.3(MED12):c.4902G>A (p.Lys1634=) rs2092328907
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs) rs2147823333
NM_005120.3(MED12):c.4914G>A (p.Leu1638=) rs2092328932
NM_005120.3(MED12):c.4937G>A (p.Arg1646Gln) rs2092328967
NM_005120.3(MED12):c.4979C>G (p.Thr1660Ser) rs2519708891
NM_005120.3(MED12):c.4980C>T (p.Thr1660=) rs2147823550
NM_005120.3(MED12):c.4995T>C (p.Ile1665=) rs1239366288
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del) rs2519708968
NM_005120.3(MED12):c.5025+10A>G rs2519708982
NM_005120.3(MED12):c.5025+11T>C rs748751153
NM_005120.3(MED12):c.5025+1G>C rs2519708972
NM_005120.3(MED12):c.5026-20T>C
NM_005120.3(MED12):c.5026-4G>T rs2519710789
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5088G>T (p.Pro1696=) rs202167558
NM_005120.3(MED12):c.5091A>G (p.Ser1697=)
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter) rs2147826070
NM_005120.3(MED12):c.5142G>A (p.Val1714=) rs2147826171
NM_005120.3(MED12):c.514G>C (p.Glu172Gln) rs2147774632
NM_005120.3(MED12):c.5172G>C (p.Leu1724=) rs1602304398
NM_005120.3(MED12):c.5184A>G (p.Thr1728=) rs2519711266
NM_005120.3(MED12):c.5185C>A (p.His1729Asn) rs387907362
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys) rs1569482278
NM_005120.3(MED12):c.5205C>G (p.Arg1735=) rs747836622
NM_005120.3(MED12):c.5220G>A (p.Glu1740=)
NM_005120.3(MED12):c.5237C>T (p.Pro1746Leu) rs2147826599
NM_005120.3(MED12):c.5252C>A (p.Pro1751Gln) rs748064846
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu) rs748064846
NM_005120.3(MED12):c.5253G>C (p.Pro1751=) rs770067057
NM_005120.3(MED12):c.5254C>T (p.Pro1752Ser)
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala) rs1428158800
NM_005120.3(MED12):c.5268G>T (p.Leu1756=) rs1375174608
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln) rs2519711669
NM_005120.3(MED12):c.5297C>A (p.Pro1766His) rs2519711740
NM_005120.3(MED12):c.5312A>G (p.Lys1771Arg)
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr) rs2092333107
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del) rs2147827025
NM_005120.3(MED12):c.5349G>A (p.Lys1783=) rs2147827030
NM_005120.3(MED12):c.535C>T (p.His179Tyr) rs2519663981
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.5370G>A (p.Lys1790=) rs2519712054
NM_005120.3(MED12):c.5379C>T (p.Ser1793=) rs2147827104
NM_005120.3(MED12):c.5400+15C>T rs1157498636
NM_005120.3(MED12):c.5400+2T>C rs2147827179
NM_005120.3(MED12):c.5400+6C>A rs192656109
NM_005120.3(MED12):c.5401-3C>A rs1180673067
NM_005120.3(MED12):c.5408G>A (p.Gly1803Glu) rs2147827854
NM_005120.3(MED12):c.5417C>T (p.Pro1806Leu) rs368093012
NM_005120.3(MED12):c.5422C>T (p.Arg1808Trp) rs372271659
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys) rs2519713079
NM_005120.3(MED12):c.5440G>A (p.Val1814Met) rs1433783461
NM_005120.3(MED12):c.5454G>A (p.Pro1818=)
NM_005120.3(MED12):c.5469C>T (p.His1823=) rs1224259784
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys) rs2519713178
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val) rs766830015
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr) rs2092334189
NM_005120.3(MED12):c.5490A>G (p.Thr1830=) rs762466624
NM_005120.3(MED12):c.5497A>C (p.Asn1833His) rs2519713255
NM_005120.3(MED12):c.553+13T>C rs2147774701
NM_005120.3(MED12):c.553+17dup rs2519664090
NM_005120.3(MED12):c.553+9C>T rs1602294060
NM_005120.3(MED12):c.554-13C>G rs1033217662
NM_005120.3(MED12):c.5552-17C>T
NM_005120.3(MED12):c.5552-20C>T rs773595972
NM_005120.3(MED12):c.5552-3C>T rs2147828860
NM_005120.3(MED12):c.5552-4T>A rs2147828853
NM_005120.3(MED12):c.5552-9C>T
NM_005120.3(MED12):c.5580T>A (p.Pro1860=) rs2519713913
NM_005120.3(MED12):c.559A>T (p.Thr187Ser)
NM_005120.3(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe) rs2519714022
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu) rs2519714031
NM_005120.3(MED12):c.5644A>G (p.Met1882Val)
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp) rs2519714125
NM_005120.3(MED12):c.566T>C (p.Ile189Thr) rs957409664
NM_005120.3(MED12):c.5670C>T (p.Pro1890=) rs2147829327
NM_005120.3(MED12):c.567C>T (p.Ile189=) rs2092288028
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile) rs2519714182
NM_005120.3(MED12):c.5686T>A (p.Ser1896Thr)
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys) rs2519714201
NM_005120.3(MED12):c.5695C>T (p.Arg1899Trp)
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu) rs7473655
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu) rs2519714283
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser) rs773945032
NM_005120.3(MED12):c.5734C>T (p.Arg1912Cys) rs2147829625
NM_005120.3(MED12):c.5735G>T (p.Arg1912Leu) rs767294730
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg) rs2147829667
NM_005120.3(MED12):c.5748+11T>G rs2519714351
NM_005120.3(MED12):c.5748+19G>A
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-17C>T rs2519714731
NM_005120.3(MED12):c.5749-20G>T rs2519714715
NM_005120.3(MED12):c.5754T>C (p.Ser1918=) rs1602305150
NM_005120.3(MED12):c.5760C>T (p.Gly1920=) rs1437807483
NM_005120.3(MED12):c.5761A>T (p.Met1921Leu) rs1315138405
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro) rs2147830190
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr) rs2519714925
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser) rs2519714925
NM_005120.3(MED12):c.5811T>C (p.Gly1937=)
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile) rs2519714985
NM_005120.3(MED12):c.5825A>G (p.Gln1942Arg) rs2519714991
NM_005120.3(MED12):c.5826+20A>T
NM_005120.3(MED12):c.5826+4A>G
NM_005120.3(MED12):c.5826+8C>T rs2147830320
NM_005120.3(MED12):c.5827-15C>G rs1234497074
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.5841T>C (p.Tyr1947=) rs2519715361
NM_005120.3(MED12):c.5849A>T (p.His1950Leu) rs2092336344
NM_005120.3(MED12):c.5862G>A (p.Gln1954=) rs1191896226
NM_005120.3(MED12):c.5867A>C (p.His1956Pro) rs1252435002
NM_005120.3(MED12):c.5874C>G (p.Gly1958=)
NM_005120.3(MED12):c.5878G>A (p.Ala1960Thr) rs2092336411
NM_005120.3(MED12):c.5897C>A (p.Pro1966His) rs2147830796
NM_005120.3(MED12):c.5898dup (p.Ser1967fs) rs879255527
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter) rs2147830849
NM_005120.3(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005120.3(MED12):c.5923A>G (p.Ser1975Gly) rs2519715640
NM_005120.3(MED12):c.5928C>T (p.Thr1976=) rs2147830882
NM_005120.3(MED12):c.5944C>T (p.Pro1982Ser)
NM_005120.3(MED12):c.5950C>T (p.Leu1984Phe)
NM_005120.3(MED12):c.5953G>A (p.Val1985Ile) rs2519715718
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val) rs1064796982
NM_005120.3(MED12):c.5959C>T (p.Pro1987Ser)
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala) rs2519715736
NM_005120.3(MED12):c.5967C>T (p.Arg1989=)
NM_005120.3(MED12):c.5970C>A (p.His1990Gln) rs979097944
NM_005120.3(MED12):c.5971C>T (p.Leu1991=)
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro) rs2519715754
NM_005120.3(MED12):c.5983C>T (p.Pro1995Ser) rs2092336678
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys) rs1556339260
NM_005120.3(MED12):c.5993A>G (p.Tyr1998Cys) rs1324299187
NM_005120.3(MED12):c.5C>G (p.Ala2Gly)
NM_005120.3(MED12):c.6010C>G (p.Pro2004Ala)
NM_005120.3(MED12):c.6015_6016delinsAA (p.Tyr2006Asn) rs2519715835
NM_005120.3(MED12):c.6020G>A (p.Gly2007Glu) rs2147831227
NM_005120.3(MED12):c.6022C>A (p.His2008Asn) rs2147831234
NM_005120.3(MED12):c.6023A>G (p.His2008Arg) rs2519715853
NM_005120.3(MED12):c.6024T>C (p.His2008=) rs2092336755
NM_005120.3(MED12):c.6024T>G (p.His2008Gln)
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro) rs2519715877
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser) rs2519715906
NM_005120.3(MED12):c.6044+13G>A
NM_005120.3(MED12):c.6044+15G>C rs2147831315
NM_005120.3(MED12):c.6045-10A>G rs2519720022
NM_005120.3(MED12):c.6045-13C>G rs2092344590
NM_005120.3(MED12):c.6045-13C>T
NM_005120.3(MED12):c.6045-16C>T
NM_005120.3(MED12):c.6045-7T>G rs2147837932
NM_005120.3(MED12):c.6048T>C (p.Phe2016=) rs2519720092
NM_005120.3(MED12):c.6051A>G (p.Ser2017=)
NM_005120.3(MED12):c.605C>G (p.Ala202Gly) rs1307031136
NM_005120.3(MED12):c.6062_6094del (p.Leu2021_Thr2031del)
NM_005120.3(MED12):c.6069G>A (p.Gln2023=)
NM_005120.3(MED12):c.6069G>C (p.Gln2023His) rs1016041724
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser) rs2092344662
NM_005120.3(MED12):c.6075C>A (p.Pro2025=) rs767609800
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile) rs1292652677
NM_005120.3(MED12):c.6078_6080del (p.Met2026del)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala) rs2092344746
NM_005120.3(MED12):c.60G>A (p.Gly20=) rs770218060
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6108G>C (p.Gln2036His) rs2147838607
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser) rs1259026756
NM_005120.3(MED12):c.6114C>T (p.Val2038=) rs2092344804
NM_005120.3(MED12):c.6123C>T (p.Gly2041=) rs2147838773
NM_005120.3(MED12):c.6138C>T (p.Ala2046=) rs2147838956
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val) rs2092344894
NM_005120.3(MED12):c.6145C>G (p.Pro2049Ala)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[5] (p.Gln2076del) rs769857818
NM_005120.3(MED12):c.6150GCA[7] (p.Gln2076dup) rs769857818
NM_005120.3(MED12):c.6150GCA[9] (p.Gln2076_Tyr2077insGlnGlnGln)
NM_005120.3(MED12):c.6165GCAACAGCA[1] (p.Gln2074_Gln2076del) rs762261992
NM_005120.3(MED12):c.6165GCAACAGCA[3] (p.Gln2074_Gln2076dup) rs762261992
NM_005120.3(MED12):c.6168_6197del (p.Gln2067_Gln2076del) rs2092344958
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter) rs2147839335
NM_005120.3(MED12):c.616C>G (p.Arg206Gly) rs1556334331
NM_005120.3(MED12):c.616C>T (p.Arg206Trp) rs1556334331
NM_005120.3(MED12):c.6177A>G (p.Gln2059=) rs775267316
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del) rs773709991
NM_005120.3(MED12):c.6177ACAGCAACAGCAGCAGCAGCAGCA[3] (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6177ACAGCA[1] (p.Gln2075_Gln2076del) rs753370104
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup) rs753370104
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6177_6191dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6177_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln) rs2519720988
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup) rs2147839452
NM_005120.3(MED12):c.6183A>G (p.Gln2061=) rs749041154
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del) rs754533796
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup) rs754533796
NM_005120.3(MED12):c.6186GCA[7] (p.Gln2076_Tyr2077insGlnGln)
NM_005120.3(MED12):c.6191_6192insACAGCAACA (p.Gln2074_Gln2076dup) rs752416697
NM_005120.3(MED12):c.6195G>A (p.Gln2065=) rs1001762438
NM_005120.3(MED12):c.6201ACAGCA[3] (p.Gln2075_Gln2076dup) rs758203078
NM_005120.3(MED12):c.6204G>A (p.Gln2068=) rs1283568825
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln) rs2519721200
NM_005120.3(MED12):c.6208CAG[10] (p.Gln2074_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup) rs757160341
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup) rs757160341
NM_005120.3(MED12):c.6211del (p.Gln2071fs) rs2519721261
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter) rs2147839986
NM_005120.3(MED12):c.6239G>A (p.Arg2080Gln) rs1602306967
NM_005120.3(MED12):c.6239_6247dup (p.Gln2082_Gln2083insArgGlnGln) rs1288483902
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[4] (p.Gln2085_Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del) rs786200971
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005120.3(MED12):c.6241CAG[8] (p.Gln2085_Gln2086dup) rs786200971
NM_005120.3(MED12):c.6264G>A (p.Leu2088=) rs1469841032
NM_005120.3(MED12):c.6266G>A (p.Arg2089Gln) rs1001050248
NM_005120.3(MED12):c.6267+3A>C rs2092345559
NM_005120.3(MED12):c.6268-17C>G rs1186423026
NM_005120.3(MED12):c.6268-7C>G rs2519722550
NM_005120.3(MED12):c.6268-7del rs2147841483
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6276_6278dupGCA rs748394417
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del) rs761195801
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del) rs761195801
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter) rs2147841653
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[11] (p.Gln2115_His2116insGlnGlnGlnGln) rs766775649
NM_005120.3(MED12):c.6288GCA[4] (p.Gln2113_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del) rs766775649
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup) rs766775649
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005120.3(MED12):c.628G>C (p.Ala210Pro) rs1379201163
NM_005120.3(MED12):c.6294G>A (p.Gln2098=) rs1408739478
NM_005120.3(MED12):c.6297G>A (p.Gln2099=) rs1480313864
NM_005120.3(MED12):c.6297GCAGCAGCAGCAACAGCAACA[3] (p.Gln2109_Gln2115dup) rs1425637621
NM_005120.3(MED12):c.629C>T (p.Ala210Val) rs1213475397
NM_005120.3(MED12):c.6300G>A (p.Gln2100=) rs1556340080
NM_005120.3(MED12):c.6300_6314dup (p.Gln2111_Gln2115dup) rs2092346839
NM_005120.3(MED12):c.6303G>A (p.Gln2101=) rs1490399010
NM_005120.3(MED12):c.6305_6306insACA (p.Gln2115_His2116insGln)
NM_005120.3(MED12):c.6309ACAGCA[1] (p.Gln2114_Gln2115del) rs764789036
NM_005120.3(MED12):c.6309ACAGCA[3] (p.Gln2114_Gln2115dup) rs764789036
NM_005120.3(MED12):c.6309_6323dup (p.Gln2115_His2116insGlnGlnGlnGlnGln) rs2519722825
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup) rs2147841816
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del) rs1569482787
NM_005120.3(MED12):c.6318GCA[1] (p.Gln2113_Gln2115del)
NM_005120.3(MED12):c.6318GCA[2] (p.Gln2114_Gln2115del)
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln) rs1168018409
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del) rs2519722867
NM_005120.3(MED12):c.6321G>A (p.Gln2107=) rs778103349
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del) rs727503869
NM_005120.3(MED12):c.6324G>A (p.Gln2108=) rs749807888
NM_005120.3(MED12):c.6328C>G (p.Gln2110Glu) rs2147842076
NM_005120.3(MED12):c.6333G>A (p.Gln2111=) rs1556340108
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del) rs1353930135
NM_005120.3(MED12):c.6336_6362dup (p.Gln2123_Ala2124insGlnHisGlnGlnGlnGlnGlnGlnGln) rs1353930135
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005120.3(MED12):c.6351G>A (p.Gln2117=) rs1175039083
NM_005120.3(MED12):c.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup) rs1433422316
NM_005120.3(MED12):c.6360G>A (p.Gln2120=) rs779631682
NM_005120.3(MED12):c.6360G>C (p.Gln2120His) rs779631682
NM_005120.3(MED12):c.6384A>G (p.Gln2128=) rs1569482811
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg) rs2519723337
NM_005120.3(MED12):c.6393C>A (p.Pro2131=)
NM_005120.3(MED12):c.6393C>G (p.Pro2131=) rs2147842475
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del) rs2092347427
NM_005120.3(MED12):c.6408+11G>A
NM_005120.3(MED12):c.6408+16C>T rs1057522248
NM_005120.3(MED12):c.6408+19C>T rs770381266
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.6408+22del rs2519723534
NM_005120.3(MED12):c.6409-14C>G rs374791085
NM_005120.3(MED12):c.6409-18C>T
NM_005120.3(MED12):c.6416G>A (p.Arg2139His) rs1262235402
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del) rs2519724969
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu) rs1556340261
NM_005120.3(MED12):c.6435C>T (p.Thr2145=) rs2519725023
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.6477A>G (p.Gln2159=) rs2519725114
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg) rs2519725122
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys) rs2519725132
NM_005120.3(MED12):c.6490+10C>T rs2519725156
NM_005120.3(MED12):c.6490+5GCCT[4]
NM_005120.3(MED12):c.6490+6C>T rs2147845031
NM_005120.3(MED12):c.6495C>A (p.Thr2165=) rs2147845582
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys) rs1218598005
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile) rs2519725810
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile) rs2519725826
NM_005120.3(MED12):c.6529_6530delinsCT (p.Tyr2177Leu) rs2092350107
NM_005120.3(MED12):c.658G>C (p.Gly220Arg) rs2147777706
NM_005120.3(MED12):c.669C>G (p.Pro223=) rs2092288251
NM_005120.3(MED12):c.66C>A (p.Pro22=) rs2092281557
NM_005120.3(MED12):c.671A>G (p.His224Arg) rs1459490134
NM_005120.3(MED12):c.688A>G (p.Ile230Val)
NM_005120.3(MED12):c.701A>G (p.Asp234Gly) rs927746681
NM_005120.3(MED12):c.705C>T (p.Tyr235=) rs2147777898
NM_005120.3(MED12):c.706A>G (p.Thr236Ala) rs2147777907
NM_005120.3(MED12):c.708C>G (p.Thr236=) rs34668206
NM_005120.3(MED12):c.70G>A (p.Val24Ile) rs2092281566
NM_005120.3(MED12):c.715C>G (p.Leu239Val) rs2519666263
NM_005120.3(MED12):c.726C>T (p.Phe242=) rs2092288371
NM_005120.3(MED12):c.728T>C (p.Met243Thr) rs2519666294
NM_005120.3(MED12):c.733C>A (p.Gln245Lys) rs2519666299
NM_005120.3(MED12):c.735+13G>T rs2519666327
NM_005120.3(MED12):c.75C>T (p.Tyr25=)
NM_005120.3(MED12):c.765G>A (p.Leu255=)
NM_005120.3(MED12):c.772G>T (p.Val258Leu) rs1381560844
NM_005120.3(MED12):c.789G>A (p.Glu263=) rs2519667194
NM_005120.3(MED12):c.795C>T (p.Ile265=) rs2519667217
NM_005120.3(MED12):c.802G>A (p.Gly268Arg)
NM_005120.3(MED12):c.82G>A (p.Asp28Asn) rs371385969
NM_005120.3(MED12):c.831G>A (p.Leu277=) rs2092289079
NM_005120.3(MED12):c.831G>T (p.Leu277=)
NM_005120.3(MED12):c.841C>T (p.Leu281Phe)
NM_005120.3(MED12):c.846+20T>C rs2519667372
NM_005120.3(MED12):c.846+3A>T rs2519667314
NM_005120.3(MED12):c.846+6dup rs1484431357
NM_005120.3(MED12):c.847-12G>A rs2147779320
NM_005120.3(MED12):c.847-13C>G
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.862G>T (p.Val288Phe)
NM_005120.3(MED12):c.876C>T (p.Tyr292=) rs2519667917
NM_005120.3(MED12):c.883C>T (p.Arg295Cys) rs2519667953
NM_005120.3(MED12):c.884G>A (p.Arg295His) rs2147779485
NM_005120.3(MED12):c.886C>T (p.Arg296Trp) rs2147779510
NM_005120.3(MED12):c.887G>A (p.Arg296Gln) rs1556334519
NM_005120.3(MED12):c.89A>G (p.Lys30Arg) rs2147767167
NM_005120.3(MED12):c.903T>C (p.Cys301=) rs2519668038
NM_005120.3(MED12):c.907C>T (p.Arg303Trp) rs2147779601
NM_005120.3(MED12):c.909G>C (p.Arg303=)
NM_005120.3(MED12):c.913C>T (p.Leu305=) rs1393195542
NM_005120.3(MED12):c.919C>G (p.Leu307Val) rs2519668097
NM_005120.3(MED12):c.934G>A (p.Val312Met) rs377403264
NM_005120.3(MED12):c.938G>A (p.Ser313Asn) rs1317622485
NM_005120.3(MED12):c.938G>T (p.Ser313Ile) rs1317622485
NM_005120.3(MED12):c.941G>A (p.Ser314Asn) rs2519668180
NM_005120.3(MED12):c.945C>T (p.His315=) rs1020663623
NM_005120.3(MED12):c.946T>A (p.Ser316Thr)
NM_005120.3(MED12):c.954T>C (p.His318=) rs1401239107
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu) rs781192327
NM_005120.3(MED12):c.965C>T (p.Ala322Val) rs2092289745
NM_005120.3(MED12):c.968A>C (p.Gln323Pro) rs1438072650
NM_005120.3(MED12):c.96G>A (p.Lys32=) rs2147767218
NM_005120.3(MED12):c.988A>C (p.Thr330Pro) rs2147780054
NM_005120.3(MED12):c.99+9G>A rs2147767284
NM_005120.3(MED12):c.993C>T (p.Thr331=) rs1277090730
NM_005120.3(MED12):c.998C>T (p.Ala333Val) rs775499343
NM_005120.3(MED12):c.99G>A (p.Glu33=) rs2147767229

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