ClinVar Miner

List of variants in gene MED12 studied for X-linked disease

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1202
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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.205-38C>T rs12850852 0.22082
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_005120.3(MED12):c.2259G>A (p.Arg753=) rs61752446 0.01916
NM_005120.3(MED12):c.5535C>T (p.Asn1845=) rs34784349 0.01002
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_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005120.3(MED12):c.3699G>A (p.Ala1233=) rs184162709 0.00133
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
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.438A>G (p.Leu146=) rs35068602 0.00100
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 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_005120.3(MED12):c.4416-15T>C rs770290521 0.00031
NM_005120.3(MED12):c.4528-19T>C rs370859385 0.00026
NM_005120.3(MED12):c.736-14C>G rs373707149 0.00025
NM_005120.3(MED12):c.2055+19G>A rs373450304 0.00020
NM_005120.3(MED12):c.934G>C (p.Val312Leu) rs377403264 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_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val) rs200820997 0.00017
NM_005120.3(MED12):c.4179A>C (p.Ser1393=) rs376058351 0.00015
NM_005120.3(MED12):c.554-16T>A rs760845015 0.00015
NM_005120.3(MED12):c.1101+18C>T rs200510424 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005120.3(MED12):c.3918C>T (p.Asp1306=) rs372389957 0.00012
NM_005120.3(MED12):c.4488C>T (p.Arg1496=) rs531754497 0.00012
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.3942T>C (p.Ser1314=) rs3810670 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_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.3692-11G>A rs773008879 0.00009
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser) rs202009066 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_005120.3(MED12):c.966T>C (p.Ala322=) rs370616416 0.00009
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu) rs764107388 0.00008
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro) rs747413033 0.00008
NM_005120.3(MED12):c.27C>T (p.Tyr9=) rs376743527 0.00008
NM_005120.3(MED12):c.4425A>G (p.Leu1475=) rs370211858 0.00008
NM_005120.3(MED12):c.4851G>A (p.Ala1617=) rs377210068 0.00008
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.4359G>A (p.Lys1453=) rs766087487 0.00007
NM_005120.3(MED12):c.4950G>A (p.Thr1650=) rs756839501 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.6409-14C>A rs374791085 0.00007
NM_005120.3(MED12):c.2220C>T (p.Ile740=) rs370195616 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.6097A>G (p.Met2033Val) rs372606012 0.00006
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.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.5109C>T (p.Gly1703=) rs781134410 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.6003G>A (p.Gln2001=) rs1226474526 0.00005
NM_005120.3(MED12):c.6044+20G>T rs1022385883 0.00005
NM_005120.3(MED12):c.6072A>T (p.Thr2024=) rs200692655 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_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.255C>T (p.Thr85=) rs979820064 0.00004
NM_005120.3(MED12):c.2571G>A (p.Thr857=) rs368090262 0.00004
NM_005120.3(MED12):c.3691+4C>T rs373381746 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.5775A>G (p.Ser1925=) rs376753995 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.6112G>A (p.Val2038Ile) rs762612521 0.00004
NM_005120.3(MED12):c.6285A>G (p.Gln2095=) rs794727673 0.00004
NM_005120.3(MED12):c.1794G>A (p.Leu598=) rs776762599 0.00003
NM_005120.3(MED12):c.183C>T (p.Asn61=) rs770411750 0.00003
NM_005120.3(MED12):c.2395C>T (p.Leu799=) rs1280842063 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.2849+14C>T rs398124196 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.3782G>A (p.Arg1261Gln) rs1388327076 0.00003
NM_005120.3(MED12):c.3985C>G (p.Arg1329Gly) rs766827969 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.448A>G (p.Thr150Ala) rs758980420 0.00003
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn) rs962560401 0.00003
NM_005120.3(MED12):c.5316G>A (p.Pro1772=) rs398124199 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.6168A>G (p.Gln2056=) rs745565325 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.6465C>T (p.Val2155=) rs764620745 0.00003
NM_005120.3(MED12):c.735+19T>C rs369585015 0.00003
NM_005120.3(MED12):c.927G>A (p.Leu309=) rs957824537 0.00003
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.1264C>T (p.Arg422Trp) rs368913305 0.00002
NM_005120.3(MED12):c.1807C>T (p.Leu603=) rs797045696 0.00002
NM_005120.3(MED12):c.1956C>T (p.Ser652=) rs199873151 0.00002
NM_005120.3(MED12):c.1994C>G (p.Ser665Cys) rs764981858 0.00002
NM_005120.3(MED12):c.204+7C>T rs776275934 0.00002
NM_005120.3(MED12):c.2118C>T (p.Val706=) rs1346228842 0.00002
NM_005120.3(MED12):c.2172T>C (p.Val724=) rs187478018 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.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005120.3(MED12):c.2686-15C>T rs200842589 0.00002
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met) rs377078179 0.00002
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser) rs863223704 0.00002
NM_005120.3(MED12):c.3355-16C>G rs201933970 0.00002
NM_005120.3(MED12):c.3516C>G (p.Thr1172=) rs1057521581 0.00002
NM_005120.3(MED12):c.3692-14C>T rs747228964 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.4077T>G (p.Ser1359=) rs902073429 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.4577A>G (p.Lys1526Arg) rs774937112 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.5088G>A (p.Pro1696=) rs202167558 0.00002
NM_005120.3(MED12):c.5124C>A (p.Val1708=) rs775912778 0.00002
NM_005120.3(MED12):c.5253G>A (p.Pro1751=) rs770067057 0.00002
NM_005120.3(MED12):c.5343A>G (p.Glu1781=) rs750991975 0.00002
NM_005120.3(MED12):c.5427C>T (p.Ser1809=) rs772462354 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.5561G>A (p.Arg1854His) rs759125296 0.00002
NM_005120.3(MED12):c.5575C>T (p.Arg1859Cys) rs759956340 0.00002
NM_005120.3(MED12):c.5576G>A (p.Arg1859His) rs763700798 0.00002
NM_005120.3(MED12):c.5585G>A (p.Arg1862His) rs773713291 0.00002
NM_005120.3(MED12):c.5652C>T (p.Gly1884=) rs779068766 0.00002
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile) rs762659794 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.5808C>T (p.Tyr1936=) rs757398839 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.6218A>G (p.Gln2073Arg) rs2092345351 0.00002
NM_005120.3(MED12):c.6267+166G>A rs1247198443 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.735+15A>G rs202206536 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_005120.3(MED12):c.1022C>T (p.Thr341Ile) rs774518546 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.1102-9A>G rs1165300427 0.00001
NM_005120.3(MED12):c.1140C>T (p.His380=) rs753714929 0.00001
NM_005120.3(MED12):c.1208A>G (p.Asn403Ser) rs1602295395 0.00001
NM_005120.3(MED12):c.1253G>A (p.Arg418His) rs1431487428 0.00001
NM_005120.3(MED12):c.1257A>C (p.Ala419=) rs754943978 0.00001
NM_005120.3(MED12):c.1269G>A (p.Glu423=) rs758467351 0.00001
NM_005120.3(MED12):c.147T>A (p.Pro49=) rs774875020 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.1773G>A (p.Val591=) rs1476863671 0.00001
NM_005120.3(MED12):c.1814G>A (p.Arg605Gln) rs1275427306 0.00001
NM_005120.3(MED12):c.1854C>T (p.Leu618=) rs775882680 0.00001
NM_005120.3(MED12):c.1895G>A (p.Arg632Gln) rs199582086 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005120.3(MED12):c.1975-7C>T rs762265257 0.00001
NM_005120.3(MED12):c.1996A>G (p.Met666Val) rs1401003961 0.00001
NM_005120.3(MED12):c.201C>G (p.Ala67=) rs374555675 0.00001
NM_005120.3(MED12):c.205-20G>A rs780403920 0.00001
NM_005120.3(MED12):c.2119G>A (p.Glu707Lys) rs768834535 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.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.2280G>A (p.Val760=) rs753948557 0.00001
NM_005120.3(MED12):c.2305C>A (p.His769Asn) rs755014778 0.00001
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr) rs778325168 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.2422+16C>A rs774516868 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.2535G>A (p.Thr845=) rs915335433 0.00001
NM_005120.3(MED12):c.2544C>A (p.Val848=) rs1204827056 0.00001
NM_005120.3(MED12):c.2631C>T (p.Phe877=) rs751190759 0.00001
NM_005120.3(MED12):c.2698C>T (p.Leu900=) rs1470081405 0.00001
NM_005120.3(MED12):c.2784T>G (p.Ala928=) rs1431106485 0.00001
NM_005120.3(MED12):c.2849+11C>G rs755525809 0.00001
NM_005120.3(MED12):c.2850-13C>T rs1199760146 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.2937C>T (p.Tyr979=) rs758935114 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.3070G>A (p.Asp1024Asn) rs1469572055 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.3210-27C>T rs752463122 0.00001
NM_005120.3(MED12):c.3219C>T (p.Asp1073=) rs1266845318 0.00001
NM_005120.3(MED12):c.324A>G (p.Arg108=) rs772440501 0.00001
NM_005120.3(MED12):c.3288T>G (p.Leu1096=) rs1167877198 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.3609C>T (p.Cys1203=) rs751742488 0.00001
NM_005120.3(MED12):c.3658G>A (p.Val1220Met) rs1236099919 0.00001
NM_005120.3(MED12):c.3692-7A>G rs1014804538 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.3797G>A (p.Arg1266His) rs587780391 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.3957C>A (p.Arg1319=) rs368549870 0.00001
NM_005120.3(MED12):c.4016C>T (p.Pro1339Leu) rs757845624 0.00001
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp) rs777250096 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.4120-11A>C rs773425479 0.00001
NM_005120.3(MED12):c.4120-4C>G rs1253682531 0.00001
NM_005120.3(MED12):c.4154C>T (p.Ala1385Val) rs771349148 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.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.4470A>G (p.Lys1490=) rs766138859 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.4528-20T>G rs1266001762 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.4728-10C>T rs1230205688 0.00001
NM_005120.3(MED12):c.4743T>A (p.Thr1581=) rs1296958553 0.00001
NM_005120.3(MED12):c.477C>T (p.Leu159=) rs1304010114 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.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.5026-12T>A rs1057520901 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.5134C>T (p.Arg1712Trp) rs763233945 0.00001
NM_005120.3(MED12):c.5198G>A (p.Arg1733Gln) rs754537871 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.5360C>G (p.Thr1787Ser) rs1444442163 0.00001
NM_005120.3(MED12):c.5418G>A (p.Pro1806=) rs770957462 0.00001
NM_005120.3(MED12):c.5453C>T (p.Pro1818Leu) rs761189421 0.00001
NM_005120.3(MED12):c.5469C>T (p.His1823=) rs1224259784 0.00001
NM_005120.3(MED12):c.554-13C>G rs1033217662 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.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.5809G>A (p.Gly1937Ser) rs781638379 0.00001
NM_005120.3(MED12):c.5862G>A (p.Gln1954=) rs1191896226 0.00001
NM_005120.3(MED12):c.5874C>T (p.Gly1958=) rs370235478 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.5993A>G (p.Tyr1998Cys) rs1324299187 0.00001
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser) rs769232520 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.6124G>A (p.Val2042Ile) rs755577187 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.617G>A (p.Arg206Gln) rs2092288110 0.00001
NM_005120.3(MED12):c.6183A>G (p.Gln2061=) rs749041154 0.00001
NM_005120.3(MED12):c.6186G>C (p.Gln2062His) rs1362044936 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.6273G>A (p.Gln2091=) rs1556340048 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.6391C>G (p.Pro2131Ala) rs748914486 0.00001
NM_005120.3(MED12):c.6399C>G (p.Ser2133=) rs1321273556 0.00001
NM_005120.3(MED12):c.6416G>A (p.Arg2139His) rs1262235402 0.00001
NM_005120.3(MED12):c.671A>G (p.His224Arg) rs1459490134 0.00001
NM_005120.3(MED12):c.707C>T (p.Thr236Ile) rs1278481602 0.00001
NM_005120.3(MED12):c.76C>G (p.Pro26Ala) rs776154055 0.00001
NM_005120.3(MED12):c.817C>T (p.Leu273Phe) rs1219519252 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
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.(?_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.71124975GTT[1]
NC_000023.11:g.71141229GCA[3]
NC_000023.11:g.71141232GCAGCAGCAACAGCAACAGCAGCAGCAGCA[3] rs773480549
NM_005120.2(MED12):c.6273_6278dup rs748394417
NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln) rs748394417
NM_005120.2(MED12):c.6300_6329del rs773480549
NM_005120.3(MED12):c.100-10C>G
NM_005120.3(MED12):c.100-11T>G
NM_005120.3(MED12):c.100-15G>T
NM_005120.3(MED12):c.100-15_100-14delinsAA rs2147769578
NM_005120.3(MED12):c.100-15_100-14delinsTT
NM_005120.3(MED12):c.100-19C>T rs930154299
NM_005120.3(MED12):c.100-2A>T
NM_005120.3(MED12):c.1009C>T (p.Pro337Ser)
NM_005120.3(MED12):c.1011A>C (p.Pro337=)
NM_005120.3(MED12):c.1011A>G (p.Pro337=) rs749348331
NM_005120.3(MED12):c.1012A>G (p.Thr338Ala)
NM_005120.3(MED12):c.1013C>T (p.Thr338Ile)
NM_005120.3(MED12):c.1026C>T (p.Pro342=)
NM_005120.3(MED12):c.1029G>A (p.Ser343=)
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro) rs1556334571
NM_005120.3(MED12):c.1060C>A (p.Gln354Lys)
NM_005120.3(MED12):c.1068G>T (p.Arg356=)
NM_005120.3(MED12):c.106C>A (p.Leu36Met) rs2147769903
NM_005120.3(MED12):c.1077T>G (p.Val359=)
NM_005120.3(MED12):c.1091G>A (p.Cys364Tyr) rs2147780559
NM_005120.3(MED12):c.1101+14G>A
NM_005120.3(MED12):c.1101+14G>C
NM_005120.3(MED12):c.1101+16G>A
NM_005120.3(MED12):c.1101+19C>T
NM_005120.3(MED12):c.1101+3A>G
NM_005120.3(MED12):c.1102-14T>C
NM_005120.3(MED12):c.1102-20T>C rs2147781663
NM_005120.3(MED12):c.1102-6T>C
NM_005120.3(MED12):c.1103C>T (p.Thr368Ile)
NM_005120.3(MED12):c.1113G>A (p.Leu371=) rs780470012
NM_005120.3(MED12):c.1131G>A (p.Leu377=) rs755897379
NM_005120.3(MED12):c.1197T>A (p.Ile399=)
NM_005120.3(MED12):c.1203G>A (p.Pro401=) rs368546216
NM_005120.3(MED12):c.1217T>C (p.Met406Thr)
NM_005120.3(MED12):c.1234G>A (p.Ala412Thr)
NM_005120.3(MED12):c.1240A>G (p.Thr414Ala)
NM_005120.3(MED12):c.1248+13A>G
NM_005120.3(MED12):c.1248+3A>G rs2147782173
NM_005120.3(MED12):c.1248+7C>G rs2147782206
NM_005120.3(MED12):c.1249-16C>T
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
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.1265G>A (p.Arg422Gln)
NM_005120.3(MED12):c.1277A>C (p.Gln426Pro)
NM_005120.3(MED12):c.1281G>A (p.Gln427=)
NM_005120.3(MED12):c.133_138del (p.Phe45_Asn46del)
NM_005120.3(MED12):c.135C>T (p.Phe45=) rs2147770770
NM_005120.3(MED12):c.137A>C (p.Asn46Thr)
NM_005120.3(MED12):c.137A>G (p.Asn46Ser)
NM_005120.3(MED12):c.144G>A (p.Gln48=)
NM_005120.3(MED12):c.153C>T (p.Val51=)
NM_005120.3(MED12):c.15G>C (p.Gly5=)
NM_005120.3(MED12):c.171C>T (p.Gly57=)
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>A (p.Arg590Gln)
NM_005120.3(MED12):c.1769G>T (p.Arg590Leu)
NM_005120.3(MED12):c.1801T>G (p.Cys601Gly)
NM_005120.3(MED12):c.1821T>A (p.Asp607Glu) rs375897167
NM_005120.3(MED12):c.1839G>A (p.Met613Ile)
NM_005120.3(MED12):c.1843A>G (p.Thr615Ala)
NM_005120.3(MED12):c.1844C>T (p.Thr615Ile)
NM_005120.3(MED12):c.184G>A (p.Val62Ile) rs1039763693
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln) rs1057519381
NM_005120.3(MED12):c.1875C>T (p.Ala625=)
NM_005120.3(MED12):c.1889G>T (p.Gly630Val)
NM_005120.3(MED12):c.1913A>G (p.Asp638Gly)
NM_005120.3(MED12):c.1918C>A (p.Pro640Thr)
NM_005120.3(MED12):c.1922C>T (p.Ala641Val)
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
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.1943A>C (p.Glu648Ala)
NM_005120.3(MED12):c.1945G>C (p.Ala649Pro)
NM_005120.3(MED12):c.1952GCA[4] (p.Ser655del)
NM_005120.3(MED12):c.1962C>T (p.Ser654=)
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly) rs1569481250
NM_005120.3(MED12):c.1965C>G (p.Ser655Arg)
NM_005120.3(MED12):c.1970T>C (p.Leu657Pro) rs2147790051
NM_005120.3(MED12):c.1974+7G>A
NM_005120.3(MED12):c.1975-16T>C
NM_005120.3(MED12):c.1975-9T>C
NM_005120.3(MED12):c.1984C>T (p.Leu662Phe)
NM_005120.3(MED12):c.1986C>T (p.Leu662=)
NM_005120.3(MED12):c.2009C>A (p.Pro670His)
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
NM_005120.3(MED12):c.2035A>G (p.Met679Val)
NM_005120.3(MED12):c.204+12C>G
NM_005120.3(MED12):c.204+12_204+13del rs200301833
NM_005120.3(MED12):c.204+14G>C
NM_005120.3(MED12):c.204+9A>C
NM_005120.3(MED12):c.204+9A>G
NM_005120.3(MED12):c.205-11T>G
NM_005120.3(MED12):c.205-17C>T
NM_005120.3(MED12):c.205-3C>T
NM_005120.3(MED12):c.2055+18C>T
NM_005120.3(MED12):c.2055+20T>C
NM_005120.3(MED12):c.2056-16C>G
NM_005120.3(MED12):c.2068A>G (p.Thr690Ala) rs878854752
NM_005120.3(MED12):c.2082G>A (p.Glu694=)
NM_005120.3(MED12):c.2091C>T (p.Gly697=)
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn) rs863223710
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del) rs1261680398
NM_005120.3(MED12):c.2143A>G (p.Lys715Glu)
NM_005120.3(MED12):c.2146G>C (p.Glu716Gln)
NM_005120.3(MED12):c.216C>T (p.Asn72=)
NM_005120.3(MED12):c.2170G>T (p.Val724Phe)
NM_005120.3(MED12):c.2178C>T (p.Tyr726=)
NM_005120.3(MED12):c.2193C>T (p.His731=)
NM_005120.3(MED12):c.2194G>T (p.Val732Leu)
NM_005120.3(MED12):c.2199G>A (p.Gln733=)
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs) rs2147791922
NM_005120.3(MED12):c.2235A>G (p.Ser745=)
NM_005120.3(MED12):c.2247G>A (p.Glu749=)
NM_005120.3(MED12):c.224G>C (p.Ser75Thr) rs867655376
NM_005120.3(MED12):c.2260T>C (p.Leu754=)
NM_005120.3(MED12):c.2263G>A (p.Val755Ile)
NM_005120.3(MED12):c.2266G>A (p.Val756Ile)
NM_005120.3(MED12):c.2271G>A (p.Leu757=) rs756091104
NM_005120.3(MED12):c.2271G>C (p.Leu757=)
NM_005120.3(MED12):c.2281G>A (p.Gly761Arg)
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.2302C>T (p.Arg768Cys)
NM_005120.3(MED12):c.2303G>A (p.Arg768His)
NM_005120.3(MED12):c.2325C>G (p.Thr775=) rs2147793224
NM_005120.3(MED12):c.232G>A (p.Ala78Thr)
NM_005120.3(MED12):c.2334C>T (p.Ile778=)
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2360C>G (p.Thr787Arg)
NM_005120.3(MED12):c.2363C>G (p.Ala788Gly)
NM_005120.3(MED12):c.2371+13C>T
NM_005120.3(MED12):c.2371+4G>C
NM_005120.3(MED12):c.2371+7T>G
NM_005120.3(MED12):c.2372-10C>G rs752691764
NM_005120.3(MED12):c.2372-10C>T rs752691764
NM_005120.3(MED12):c.2372-15T>A
NM_005120.3(MED12):c.2372-17_2372-6del
NM_005120.3(MED12):c.2372-8C>G
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.2372-9C>T
NM_005120.3(MED12):c.2380G>A (p.Ala794Thr)
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser) rs1602297729
NM_005120.3(MED12):c.2384C>T (p.Pro795Leu) rs2092301217
NM_005120.3(MED12):c.2411T>G (p.Leu804Arg)
NM_005120.3(MED12):c.2422+11G>A
NM_005120.3(MED12):c.2422+6T>G rs1569481413
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2436G>A (p.Gly812=)
NM_005120.3(MED12):c.244C>G (p.Arg82Gly)
NM_005120.3(MED12):c.2451C>A (p.Arg817=) rs2147795617
NM_005120.3(MED12):c.2456G>A (p.Arg819Gln) rs1192740859
NM_005120.3(MED12):c.2457G>A (p.Arg819=) rs2147795650
NM_005120.3(MED12):c.245G>A (p.Arg82His)
NM_005120.3(MED12):c.2466C>T (p.Ala822=) rs2147795665
NM_005120.3(MED12):c.2467T>G (p.Phe823Val)
NM_005120.3(MED12):c.2469C>T (p.Phe823=) rs2147795677
NM_005120.3(MED12):c.2470C>T (p.Pro824Ser)
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.2529G>C (p.Gln843His) rs2147795833
NM_005120.3(MED12):c.2532C>G (p.Val844=)
NM_005120.3(MED12):c.2534C>T (p.Thr845Met)
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
NM_005120.3(MED12):c.2542-4T>G rs2147796325
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) rs1135401775
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
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=)
NM_005120.3(MED12):c.2570C>T (p.Thr857Met)
NM_005120.3(MED12):c.2571G>C (p.Thr857=) rs368090262
NM_005120.3(MED12):c.2574C>G (p.Ser858Arg)
NM_005120.3(MED12):c.2616T>C (p.His872=)
NM_005120.3(MED12):c.2619G>A (p.Val873=) rs763140070
NM_005120.3(MED12):c.2622G>A (p.Gln874=)
NM_005120.3(MED12):c.2631C>G (p.Phe877Leu)
NM_005120.3(MED12):c.2649A>G (p.Ser883=)
NM_005120.3(MED12):c.2652C>T (p.Leu884=)
NM_005120.3(MED12):c.2663G>C (p.Gly888Ala) rs2092303518
NM_005120.3(MED12):c.2663dup (p.Leu889fs) rs2147796613
NM_005120.3(MED12):c.2667C>T (p.Leu889=)
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=)
NM_005120.3(MED12):c.2685+20G>A
NM_005120.3(MED12):c.2685+6G>A rs2147796689
NM_005120.3(MED12):c.2686-16C>A
NM_005120.3(MED12):c.2686-17C>G
NM_005120.3(MED12):c.2686-20A>T
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp) rs2147797665
NM_005120.3(MED12):c.2727C>T (p.Leu909=)
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.2759C>T (p.Thr920Ile)
NM_005120.3(MED12):c.2778C>T (p.Ile926=)
NM_005120.3(MED12):c.2786T>A (p.Val929Asp) rs2147798220
NM_005120.3(MED12):c.2817C>T (p.Leu939=)
NM_005120.3(MED12):c.281C>T (p.Pro94Leu) rs1602293842
NM_005120.3(MED12):c.2823G>A (p.Gln941=)
NM_005120.3(MED12):c.2835A>G (p.Ala945=)
NM_005120.3(MED12):c.2849+15G>A
NM_005120.3(MED12):c.2850-16T>C
NM_005120.3(MED12):c.2850-7C>G rs1556336208
NM_005120.3(MED12):c.2850G>T (p.Gly950=)
NM_005120.3(MED12):c.285A>G (p.Gln95=)
NM_005120.3(MED12):c.2860G>A (p.Val954Ile)
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)
NM_005120.3(MED12):c.2905C>T (p.Arg969Cys)
NM_005120.3(MED12):c.2919T>C (p.Ala973=)
NM_005120.3(MED12):c.2940C>T (p.Thr980=)
NM_005120.3(MED12):c.2952T>C (p.His984=)
NM_005120.3(MED12):c.2964A>G (p.Lys988=) rs1346914696
NM_005120.3(MED12):c.2981+9G>C
NM_005120.3(MED12):c.2982-14C>T
NM_005120.3(MED12):c.2992T>C (p.Ser998Pro)
NM_005120.3(MED12):c.299A>T (p.Asp100Val)
NM_005120.3(MED12):c.3008C>T (p.Thr1003Ile)
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
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=)
NM_005120.3(MED12):c.3033G>A (p.Ser1011=)
NM_005120.3(MED12):c.3039A>C (p.Ser1013=)
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.3105C>G (p.Thr1035=)
NM_005120.3(MED12):c.3109A>G (p.Thr1037Ala) rs2147800946
NM_005120.3(MED12):c.310C>T (p.Leu104=)
NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn) rs1556336419
NM_005120.3(MED12):c.3129T>G (p.Leu1043=)
NM_005120.3(MED12):c.3156C>T (p.Ser1052=)
NM_005120.3(MED12):c.3163T>A (p.Cys1055Ser) rs2147801044
NM_005120.3(MED12):c.3181G>A (p.Val1061Ile)
NM_005120.3(MED12):c.3195C>T (p.His1065=)
NM_005120.3(MED12):c.3209+4T>C
NM_005120.3(MED12):c.3209+6G>A
NM_005120.3(MED12):c.3209+7G>T rs2147801168
NM_005120.3(MED12):c.320C>T (p.Ala107Val) rs2092284960
NM_005120.3(MED12):c.3210-18A>G
NM_005120.3(MED12):c.3210-20G>A rs1032124326
NM_005120.3(MED12):c.3210-7T>C
NM_005120.3(MED12):c.3220A>G (p.Ile1074Val) rs2092308336
NM_005120.3(MED12):c.3222C>G (p.Ile1074Met)
NM_005120.3(MED12):c.3223G>T (p.Ala1075Ser)
NM_005120.3(MED12):c.322C>T (p.Arg108Ter) rs2147773440
NM_005120.3(MED12):c.3246C>G (p.Thr1082=)
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys) rs2147802318
NM_005120.3(MED12):c.327C>T (p.Ser109=)
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala) rs2147802401
NM_005120.3(MED12):c.3296T>C (p.Leu1099Ser)
NM_005120.3(MED12):c.3297G>A (p.Leu1099=)
NM_005120.3(MED12):c.3354+6A>C
NM_005120.3(MED12):c.3355-11T>C
NM_005120.3(MED12):c.3355-14G>T
NM_005120.3(MED12):c.3355-16_3355-13del rs1556336608
NM_005120.3(MED12):c.3355-8dup rs750373111
NM_005120.3(MED12):c.336C>T (p.Ala112=)
NM_005120.3(MED12):c.3381G>A (p.Ser1127=) rs369946933
NM_005120.3(MED12):c.3390T>G (p.Thr1130=)
NM_005120.3(MED12):c.3393T>C (p.Phe1131=)
NM_005120.3(MED12):c.3399C>T (p.Ala1133=) rs1042095169
NM_005120.3(MED12):c.33C>A (p.His11Gln)
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=)
NM_005120.3(MED12):c.3430G>A (p.Glu1144Lys)
NM_005120.3(MED12):c.3443G>A (p.Arg1148His) rs387907360
NM_005120.3(MED12):c.3476-12T>C
NM_005120.3(MED12):c.3476-20C>G
NM_005120.3(MED12):c.3476-6T>A
NM_005120.3(MED12):c.3480T>C (p.Cys1160=) rs1463883892
NM_005120.3(MED12):c.3483T>C (p.Ser1161=)
NM_005120.3(MED12):c.3488dup (p.Asp1164fs)
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.3546A>G (p.Thr1182=)
NM_005120.3(MED12):c.3558T>A (p.Asn1186Lys)
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.3577+12T>C
NM_005120.3(MED12):c.3578-11G>A
NM_005120.3(MED12):c.3578-11G>T
NM_005120.3(MED12):c.357C>G (p.Asp119Glu)
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)
NM_005120.3(MED12):c.3605C>A (p.Ser1202Tyr)
NM_005120.3(MED12):c.3605C>G (p.Ser1202Cys)
NM_005120.3(MED12):c.3613C>T (p.Arg1205Cys) rs2092311027
NM_005120.3(MED12):c.3618C>T (p.His1206=)
NM_005120.3(MED12):c.3619C>G (p.Leu1207Val) rs2092311035
NM_005120.3(MED12):c.361G>T (p.Ala121Ser)
NM_005120.3(MED12):c.3622C>G (p.Leu1208Val)
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=)
NM_005120.3(MED12):c.3657C>T (p.Ala1219=)
NM_005120.3(MED12):c.3691+10T>C
NM_005120.3(MED12):c.3691+9G>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
NM_005120.3(MED12):c.3692-20C>T
NM_005120.3(MED12):c.3692-5C>T
NM_005120.3(MED12):c.369C>T (p.Thr123=) rs769484204
NM_005120.3(MED12):c.3728C>T (p.Thr1243Ile)
NM_005120.3(MED12):c.3731G>A (p.Gly1244Glu)
NM_005120.3(MED12):c.3736A>G (p.Thr1246Ala)
NM_005120.3(MED12):c.3742G>C (p.Glu1248Gln) rs2092312145
NM_005120.3(MED12):c.3743A>T (p.Glu1248Val)
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.3769G>A (p.Gly1257Ser) rs776373565
NM_005120.3(MED12):c.3779G>T (p.Gly1260Val) rs2147807429
NM_005120.3(MED12):c.3781C>T (p.Arg1261Trp)
NM_005120.3(MED12):c.3789G>C (p.Gln1263His)
NM_005120.3(MED12):c.378C>T (p.Leu126=)
NM_005120.3(MED12):c.3795C>T (p.Gly1265=)
NM_005120.3(MED12):c.3797_3798delinsAT (p.Arg1266His) rs2147807577
NM_005120.3(MED12):c.37C>T (p.Pro13Ser)
NM_005120.3(MED12):c.3800A>G (p.Asn1267Ser)
NM_005120.3(MED12):c.3802A>G (p.Ile1268Val)
NM_005120.3(MED12):c.3807T>C (p.Ser1269=) rs1319771105
NM_005120.3(MED12):c.3813G>T (p.Glu1271Asp)
NM_005120.3(MED12):c.3820A>G (p.Ser1274Gly) rs2147807641
NM_005120.3(MED12):c.3823C>T (p.Leu1275=)
NM_005120.3(MED12):c.3861C>T (p.Cys1287=)
NM_005120.3(MED12):c.3867+10_3867+11del rs2147807790
NM_005120.3(MED12):c.3868-11A>G
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)
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu) rs2147808490
NM_005120.3(MED12):c.3934T>C (p.Leu1312=) rs1406760316
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser) rs2147808505
NM_005120.3(MED12):c.3943G>A (p.Ala1315Thr)
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) rs2092313149
NM_005120.3(MED12):c.3951G>A (p.Ala1317=)
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.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.3960C>T (p.Leu1320=)
NM_005120.3(MED12):c.397-12A>G rs192515277
NM_005120.3(MED12):c.397-7C>T rs2092285587
NM_005120.3(MED12):c.397-8C>T
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg) rs797045699
NM_005120.3(MED12):c.3990G>C (p.Leu1330=)
NM_005120.3(MED12):c.3998A>G (p.Asn1333Ser)
NM_005120.3(MED12):c.399C>A (p.Val133=) rs754050535
NM_005120.3(MED12):c.4011A>C (p.Glu1337Asp) rs2147808786
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
NM_005120.3(MED12):c.4036C>T (p.Arg1346Cys)
NM_005120.3(MED12):c.4047+13C>T
NM_005120.3(MED12):c.4047+20G>A
NM_005120.3(MED12):c.4048-11C>G
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
NM_005120.3(MED12):c.4048-3C>T
NM_005120.3(MED12):c.4048A>G (p.Asn1350Asp)
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)
NM_005120.3(MED12):c.4080C>T (p.Ser1360=) rs2147811888
NM_005120.3(MED12):c.4084G>C (p.Glu1362Gln)
NM_005120.3(MED12):c.4087C>T (p.Leu1363=)
NM_005120.3(MED12):c.4116C>T (p.Asn1372=)
NM_005120.3(MED12):c.4120-17C>A
NM_005120.3(MED12):c.4120-5C>T rs2147813260
NM_005120.3(MED12):c.4120-7T>A
NM_005120.3(MED12):c.4120-7T>C rs2147813240
NM_005120.3(MED12):c.4123A>G (p.Met1375Val)
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr) rs863223696
NM_005120.3(MED12):c.4187C>T (p.Thr1396Ile)
NM_005120.3(MED12):c.4196C>A (p.Ser1399Tyr)
NM_005120.3(MED12):c.4199C>T (p.Ser1400Phe)
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)
NM_005120.3(MED12):c.4245T>C (p.Pro1415=) rs2147813683
NM_005120.3(MED12):c.4254-11_4254-8del
NM_005120.3(MED12):c.4255T>C (p.Ser1419Pro) rs2147814288
NM_005120.3(MED12):c.4260A>G (p.Leu1420=) rs34299769
NM_005120.3(MED12):c.4290C>T (p.Pro1430=) rs2147814427
NM_005120.3(MED12):c.4325A>G (p.His1442Arg)
NM_005120.3(MED12):c.4328T>G (p.Val1443Gly)
NM_005120.3(MED12):c.4337C>T (p.Ala1446Val)
NM_005120.3(MED12):c.4343G>A (p.Gly1448Glu) rs2147814559
NM_005120.3(MED12):c.434A>G (p.Tyr145Cys)
NM_005120.3(MED12):c.4369C>G (p.Leu1457Val)
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
NM_005120.3(MED12):c.4415+9G>A
NM_005120.3(MED12):c.4416-13C>T
NM_005120.3(MED12):c.4416-16_4416-15insC
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTC
NM_005120.3(MED12):c.4416-16_4416-15insCTTCTCTTCTCTTCTCTTCTC rs58328145
NM_005120.3(MED12):c.4416-20C>T
NM_005120.3(MED12):c.4416-42_4416-9del
NM_005120.3(MED12):c.4416-77CTCTT[14] rs56658066
NM_005120.3(MED12):c.4416-7T>A
NM_005120.3(MED12):c.4418T>C (p.Met1473Thr)
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
NM_005120.3(MED12):c.4449G>A (p.Ser1483=)
NM_005120.3(MED12):c.4486C>T (p.Arg1496Cys) rs759105512
NM_005120.3(MED12):c.4488C>A (p.Arg1496=)
NM_005120.3(MED12):c.4489G>A (p.Glu1497Lys) rs868164882
NM_005120.3(MED12):c.4491G>A (p.Glu1497=)
NM_005120.3(MED12):c.4492G>A (p.Gly1498Arg) rs2147817009
NM_005120.3(MED12):c.4509C>T (p.Leu1503=) rs2147817069
NM_005120.3(MED12):c.4512C>T (p.Tyr1504=) rs2092322482
NM_005120.3(MED12):c.4527+14G>A
NM_005120.3(MED12):c.4527+16C>T
NM_005120.3(MED12):c.4527+18A>G
NM_005120.3(MED12):c.4527+18A>T
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
NM_005120.3(MED12):c.4543C>A (p.Arg1515=)
NM_005120.3(MED12):c.454C>T (p.Pro152Ser) rs2147774389
NM_005120.3(MED12):c.4566T>C (p.Asp1522=)
NM_005120.3(MED12):c.4584T>C (p.Leu1528=) rs1220815401
NM_005120.3(MED12):c.4593G>A (p.Glu1531=)
NM_005120.3(MED12):c.4606C>T (p.Arg1536Trp) rs2092323072
NM_005120.3(MED12):c.4617+13G>C
NM_005120.3(MED12):c.4618-13G>T
NM_005120.3(MED12):c.4618-19C>T
NM_005120.3(MED12):c.4618-7C>T
NM_005120.3(MED12):c.4623G>A (p.Gly1541=)
NM_005120.3(MED12):c.4638G>A (p.Thr1546=) rs980389482
NM_005120.3(MED12):c.4639G>C (p.Val1547Leu)
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala) rs1375497967
NM_005120.3(MED12):c.4652C>T (p.Thr1551Ile)
NM_005120.3(MED12):c.4662C>A (p.Thr1554=)
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.46C>A (p.Arg16=)
NM_005120.3(MED12):c.4701C>T (p.Ser1567=)
NM_005120.3(MED12):c.4720T>G (p.Ser1574Ala)
NM_005120.3(MED12):c.4727+17C>T
NM_005120.3(MED12):c.4727+18G>A
NM_005120.3(MED12):c.4728-6T>A
NM_005120.3(MED12):c.4728-9C>T
NM_005120.3(MED12):c.4728T>C (p.Asn1576=)
NM_005120.3(MED12):c.4762G>A (p.Val1588Met)
NM_005120.3(MED12):c.4762G>T (p.Val1588Leu) rs767396596
NM_005120.3(MED12):c.4764G>A (p.Val1588=)
NM_005120.3(MED12):c.4772A>G (p.Asn1591Ser) rs2147822394
NM_005120.3(MED12):c.4779A>G (p.Thr1593=)
NM_005120.3(MED12):c.478A>G (p.Ile160Val)
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.4816A>G (p.Met1606Val)
NM_005120.3(MED12):c.4829A>G (p.Lys1610Arg)
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys) rs727503868
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005120.3(MED12):c.4863+1G>A
NM_005120.3(MED12):c.4863+7A>G rs2147822616
NM_005120.3(MED12):c.4864-12del
NM_005120.3(MED12):c.4891A>G (p.Ser1631Gly)
NM_005120.3(MED12):c.489C>A (p.Thr163=)
NM_005120.3(MED12):c.4902G>A (p.Lys1634=)
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)
NM_005120.3(MED12):c.4980C>T (p.Thr1660=) rs2147823550
NM_005120.3(MED12):c.4995T>C (p.Ile1665=)
NM_005120.3(MED12):c.5005G>A (p.Asp1669Asn) rs779481901
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
NM_005120.3(MED12):c.5025+10A>G
NM_005120.3(MED12):c.5025+11T>C
NM_005120.3(MED12):c.5025+1G>C
NM_005120.3(MED12):c.5025+20C>T
NM_005120.3(MED12):c.5026-4G>T
NM_005120.3(MED12):c.503C>T (p.Ala168Val) rs1602294043
NM_005120.3(MED12):c.5088G>T (p.Pro1696=)
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.5165G>A (p.Arg1722Gln)
NM_005120.3(MED12):c.5172G>C (p.Leu1724=) rs1602304398
NM_005120.3(MED12):c.5175C>T (p.Leu1725=)
NM_005120.3(MED12):c.5184A>G (p.Thr1728=)
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.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=)
NM_005120.3(MED12):c.5260C>G (p.Pro1754Ala)
NM_005120.3(MED12):c.5268G>T (p.Leu1756=) rs1375174608
NM_005120.3(MED12):c.5272G>C (p.Glu1758Gln)
NM_005120.3(MED12):c.5295G>C (p.Glu1765Asp)
NM_005120.3(MED12):c.5297C>A (p.Pro1766His)
NM_005120.3(MED12):c.5303A>G (p.Lys1768Arg) rs1295791827
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
NM_005120.3(MED12):c.5320G>A (p.Ala1774Thr)
NM_005120.3(MED12):c.5336C>T (p.Thr1779Ile) rs1556338856
NM_005120.3(MED12):c.5344C>T (p.Arg1782Cys)
NM_005120.3(MED12):c.5345G>A (p.Arg1782His) rs1060502167
NM_005120.3(MED12):c.5347AAG[2] (p.Lys1785del)
NM_005120.3(MED12):c.5349G>A (p.Lys1783=)
NM_005120.3(MED12):c.535C>T (p.His179Tyr)
NM_005120.3(MED12):c.536A>G (p.His179Arg) rs2092285751
NM_005120.3(MED12):c.5370G>A (p.Lys1790=)
NM_005120.3(MED12):c.5376C>T (p.Arg1792=)
NM_005120.3(MED12):c.5379C>T (p.Ser1793=)
NM_005120.3(MED12):c.5400+11C>T
NM_005120.3(MED12):c.5400+15C>T rs1157498636
NM_005120.3(MED12):c.5400+16G>A
NM_005120.3(MED12):c.5400+2T>C rs2147827179
NM_005120.3(MED12):c.5400+4A>G
NM_005120.3(MED12):c.5400+6C>A
NM_005120.3(MED12):c.5400+9C>T
NM_005120.3(MED12):c.5401-3C>A rs1180673067
NM_005120.3(MED12):c.5405A>G (p.Tyr1802Cys)
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.5423G>A (p.Arg1808Gln) rs1432487094
NM_005120.3(MED12):c.5435A>G (p.Tyr1812Cys)
NM_005120.3(MED12):c.543C>T (p.Asp181=)
NM_005120.3(MED12):c.5440G>A (p.Val1814Met)
NM_005120.3(MED12):c.5475C>A (p.Asn1825Lys)
NM_005120.3(MED12):c.5485A>G (p.Ile1829Val)
NM_005120.3(MED12):c.5487_5492dup (p.Thr1830_His1831insGlnThr) rs2092334189
NM_005120.3(MED12):c.5497A>C (p.Asn1833His)
NM_005120.3(MED12):c.5511C>T (p.Gly1837=)
NM_005120.3(MED12):c.553+13T>C rs2147774701
NM_005120.3(MED12):c.553+17dup
NM_005120.3(MED12):c.553+9C>T rs1602294060
NM_005120.3(MED12):c.5552-20C>T
NM_005120.3(MED12):c.5552-3C>T
NM_005120.3(MED12):c.5552-4T>A rs2147828853
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) rs2092334822
NM_005120.3(MED12):c.5580T>A (p.Pro1860=)
NM_005120.3(MED12):c.5616A>G (p.Pro1872=) rs750250372
NM_005120.3(MED12):c.5621A>T (p.Tyr1874Phe)
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter) rs2147829167
NM_005120.3(MED12):c.5624C>T (p.Pro1875Leu)
NM_005120.3(MED12):c.5655C>T (p.Val1885=) rs1556339100
NM_005120.3(MED12):c.5660G>A (p.Gly1887Asp)
NM_005120.3(MED12):c.566T>C (p.Ile189Thr)
NM_005120.3(MED12):c.5670C>T (p.Pro1890=) rs2147829327
NM_005120.3(MED12):c.567C>T (p.Ile189=)
NM_005120.3(MED12):c.5684C>T (p.Thr1895Ile)
NM_005120.3(MED12):c.5693A>G (p.Tyr1898Cys)
NM_005120.3(MED12):c.5708C>T (p.Pro1903Leu)
NM_005120.3(MED12):c.5717C>T (p.Pro1906Leu)
NM_005120.3(MED12):c.5728C>A (p.Arg1910Ser)
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.5745C>G (p.Leu1915=)
NM_005120.3(MED12):c.5747A>G (p.Gln1916Arg) rs2147829667
NM_005120.3(MED12):c.5748+11T>G
NM_005120.3(MED12):c.5749-11T>G
NM_005120.3(MED12):c.5749-11del rs2147830057
NM_005120.3(MED12):c.5749-15C>T
NM_005120.3(MED12):c.5749-17C>T
NM_005120.3(MED12):c.5749-20G>T
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
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)
NM_005120.3(MED12):c.5773T>C (p.Ser1925Pro) rs2147830190
NM_005120.3(MED12):c.5794C>A (p.Pro1932Thr)
NM_005120.3(MED12):c.5794C>T (p.Pro1932Ser)
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
NM_005120.3(MED12):c.5819C>T (p.Thr1940Ile)
NM_005120.3(MED12):c.5826+8C>T rs2147830320
NM_005120.3(MED12):c.5827-15C>G rs1234497074
NM_005120.3(MED12):c.5827-15C>T
NM_005120.3(MED12):c.5834C>G (p.Thr1945Ser) rs2147830593
NM_005120.3(MED12):c.5841T>C (p.Tyr1947=)
NM_005120.3(MED12):c.5849A>T (p.His1950Leu) rs2092336344
NM_005120.3(MED12):c.5867A>C (p.His1956Pro)
NM_005120.3(MED12):c.5873G>C (p.Gly1958Ala)
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.5904C>T (p.Tyr1968=) rs2092336448
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)
NM_005120.3(MED12):c.5928C>T (p.Thr1976=) rs2147830882
NM_005120.3(MED12):c.5957A>T (p.Asp1986Val)
NM_005120.3(MED12):c.5962A>G (p.Thr1988Ala)
NM_005120.3(MED12):c.5965C>T (p.Arg1989Cys) rs1009330609
NM_005120.3(MED12):c.5970C>A (p.His1990Gln)
NM_005120.3(MED12):c.5972T>C (p.Leu1991Pro)
NM_005120.3(MED12):c.5978A>C (p.Gln1993Pro)
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.6015_6016delinsAA (p.Tyr2006Asn)
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
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)
NM_005120.3(MED12):c.6024T>C (p.His2008=)
NM_005120.3(MED12):c.6029T>C (p.Leu2010Pro)
NM_005120.3(MED12):c.6037A>G (p.Thr2013Ala) rs777453338
NM_005120.3(MED12):c.6038C>G (p.Thr2013Ser)
NM_005120.3(MED12):c.6044+15G>C rs2147831315
NM_005120.3(MED12):c.6045-10A>G
NM_005120.3(MED12):c.6045-13C>G
NM_005120.3(MED12):c.6045-7T>G
NM_005120.3(MED12):c.6045G>A (p.Arg2015=)
NM_005120.3(MED12):c.6046T>C (p.Phe2016Leu) rs2092344632
NM_005120.3(MED12):c.6048T>C (p.Phe2016=)
NM_005120.3(MED12):c.605C>G (p.Ala202Gly)
NM_005120.3(MED12):c.6060A>T (p.Thr2020=)
NM_005120.3(MED12):c.6069G>C (p.Gln2023His)
NM_005120.3(MED12):c.6070A>T (p.Thr2024Ser)
NM_005120.3(MED12):c.6075C>A (p.Pro2025=)
NM_005120.3(MED12):c.6078G>T (p.Met2026Ile)
NM_005120.3(MED12):c.6094C>G (p.Pro2032Ala) rs2092344746
NM_005120.3(MED12):c.60G>A (p.Gly20=)
NM_005120.3(MED12):c.6103G>A (p.Ala2035Thr) rs1602306821
NM_005120.3(MED12):c.6108G>C (p.Gln2036His)
NM_005120.3(MED12):c.6109G>A (p.Gly2037Ser)
NM_005120.3(MED12):c.6111C>T (p.Gly2037=)
NM_005120.3(MED12):c.6114C>T (p.Val2038=)
NM_005120.3(MED12):c.6123C>T (p.Gly2041=)
NM_005120.3(MED12):c.6128G>A (p.Arg2043His)
NM_005120.3(MED12):c.6137C>G (p.Ala2046Gly)
NM_005120.3(MED12):c.6138C>T (p.Ala2046=) rs2147838956
NM_005120.3(MED12):c.6142C>G (p.Leu2048Val)
NM_005120.3(MED12):c.6150GCA[3] (p.Gln2074_Gln2076del)
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.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)
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)
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.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_6194dup (p.Gln2076_Tyr2077insGlnGlnGlnGlnGlnGln)
NM_005120.3(MED12):c.6180_6182dup (p.Gln2076dup) rs2147839452
NM_005120.3(MED12):c.6186GCA[3] (p.Gln2075_Gln2076del) rs754533796
NM_005120.3(MED12):c.6186GCA[4] (p.Gln2076del)
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup) rs754533796
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.6198G>A (p.Gln2066=)
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.6207A>G (p.Gln2069=)
NM_005120.3(MED12):c.6207_6218dup (p.Gln2076_Tyr2077insGlnGlnGlnGln)
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.6210G>A (p.Gln2070=) rs1229904793
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
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)
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=)
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
NM_005120.3(MED12):c.6268-3T>C
NM_005120.3(MED12):c.6268-7C>G
NM_005120.3(MED12):c.6268-7del rs2147841483
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter) rs2147841562
NM_005120.3(MED12):c.6274C>A (p.Gln2092Lys)
NM_005120.3(MED12):c.6279ACAGCA[1] (p.Gln2114_Gln2115del)
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup) rs761195801
NM_005120.3(MED12):c.6279_6290del (p.Gln2112_Gln2115del)
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)
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)
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.6306G>A (p.Gln2102=)
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)
NM_005120.3(MED12):c.6309_6326dup (p.Gln2110_Gln2115dup) rs2147841816
NM_005120.3(MED12):c.6312_6338del (p.Gln2107_Gln2115del)
NM_005120.3(MED12):c.6318GCA[6] (p.Gln2115_His2116insGlnGln)
NM_005120.3(MED12):c.6318_6347del (p.Gln2106_Gln2115del)
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)
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)
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)
NM_005120.3(MED12):c.6371C>T (p.Ala2124Val)
NM_005120.3(MED12):c.6372G>A (p.Ala2124=)
NM_005120.3(MED12):c.6384A>G (p.Gln2128=) rs1569482811
NM_005120.3(MED12):c.6386C>G (p.Pro2129Arg)
NM_005120.3(MED12):c.6393C>G (p.Pro2131=) rs2147842475
NM_005120.3(MED12):c.6397_6408delTCCCAGCCCCAG (p.Ser2133_Gln2136del)
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) rs2092347481
NM_005120.3(MED12):c.6408+16C>T rs1057522248
NM_005120.3(MED12):c.6408+19C>T
NM_005120.3(MED12):c.6408+1G>A rs2092347488
NM_005120.3(MED12):c.6408+22del
NM_005120.3(MED12):c.6408+9_6408+12del
NM_005120.3(MED12):c.6409-12A>G
NM_005120.3(MED12):c.6409-14C>G
NM_005120.3(MED12):c.6411C>T (p.Phe2137=)
NM_005120.3(MED12):c.6416_6439del (p.Arg2139_Gln2146del)
NM_005120.3(MED12):c.641G>A (p.Gly214Asp)
NM_005120.3(MED12):c.6426T>G (p.Leu2142=)
NM_005120.3(MED12):c.6435C>T (p.Thr2145=)
NM_005120.3(MED12):c.6439C>A (p.Gln2147Lys) rs863223699
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter) rs2147844887
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile) rs2147844978
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) rs1085307941
NM_005120.3(MED12):c.6477A>G (p.Gln2159=)
NM_005120.3(MED12):c.6479A>G (p.Gln2160Arg)
NM_005120.3(MED12):c.6488C>G (p.Ser2163Cys)
NM_005120.3(MED12):c.6490+10C>T
NM_005120.3(MED12):c.6490+6C>T rs2147845031
NM_005120.3(MED12):c.6491-20T>C
NM_005120.3(MED12):c.6495C>A (p.Thr2165=) rs2147845582
NM_005120.3(MED12):c.6502C>A (p.Gln2168Lys)
NM_005120.3(MED12):c.6506C>A (p.Pro2169His)
NM_005120.3(MED12):c.6509G>T (p.Ser2170Ile)
NM_005120.3(MED12):c.6520T>A (p.Phe2174Ile)
NM_005120.3(MED12):c.6527G>A (p.Arg2176His)
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.691C>T (p.Arg231Trp)
NM_005120.3(MED12):c.692G>A (p.Arg231Gln)
NM_005120.3(MED12):c.6G>T (p.Ala2=)
NM_005120.3(MED12):c.701A>G (p.Asp234Gly)
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)
NM_005120.3(MED12):c.726C>T (p.Phe242=)
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
NM_005120.3(MED12):c.733C>A (p.Gln245Lys)
NM_005120.3(MED12):c.735+13G>T
NM_005120.3(MED12):c.736-3T>C rs2092288995
NM_005120.3(MED12):c.751A>C (p.Arg251=)
NM_005120.3(MED12):c.772G>T (p.Val258Leu)
NM_005120.3(MED12):c.789G>A (p.Glu263=)
NM_005120.3(MED12):c.795C>T (p.Ile265=)
NM_005120.3(MED12):c.796C>T (p.Arg266Cys)
NM_005120.3(MED12):c.823C>G (p.Leu275Val) rs2147778826
NM_005120.3(MED12):c.82G>A (p.Asp28Asn)
NM_005120.3(MED12):c.831G>A (p.Leu277=) rs2092289079
NM_005120.3(MED12):c.846+10G>A
NM_005120.3(MED12):c.846+20T>C
NM_005120.3(MED12):c.846+3A>T
NM_005120.3(MED12):c.846+6dup
NM_005120.3(MED12):c.847-12G>A
NM_005120.3(MED12):c.85C>A (p.Pro29Thr) rs2147767136
NM_005120.3(MED12):c.876C>T (p.Tyr292=)
NM_005120.3(MED12):c.883C>T (p.Arg295Cys)
NM_005120.3(MED12):c.884G>A (p.Arg295His)
NM_005120.3(MED12):c.886C>T (p.Arg296Trp)
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=)
NM_005120.3(MED12):c.907C>T (p.Arg303Trp)
NM_005120.3(MED12):c.908G>A (p.Arg303Gln)
NM_005120.3(MED12):c.913C>T (p.Leu305=)
NM_005120.3(MED12):c.919C>G (p.Leu307Val)
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.941G>A (p.Ser314Asn)
NM_005120.3(MED12):c.945C>T (p.His315=)
NM_005120.3(MED12):c.949T>C (p.Ser317Pro)
NM_005120.3(MED12):c.954T>C (p.His318=)
NM_005120.3(MED12):c.958A>G (p.Ile320Val) rs781192327
NM_005120.3(MED12):c.958A>T (p.Ile320Leu)
NM_005120.3(MED12):c.959T>C (p.Ile320Thr)
NM_005120.3(MED12):c.965C>T (p.Ala322Val) rs2092289745
NM_005120.3(MED12):c.968A>C (p.Gln323Pro)
NM_005120.3(MED12):c.96G>A (p.Lys32=) rs2147767218
NM_005120.3(MED12):c.982C>T (p.Leu328=)
NM_005120.3(MED12):c.988A>C (p.Thr330Pro) rs2147780054
NM_005120.3(MED12):c.99+9G>A
NM_005120.3(MED12):c.993C>T (p.Thr331=)
NM_005120.3(MED12):c.998C>T (p.Ala333Val)
NM_005120.3(MED12):c.99G>A (p.Glu33=)

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