NC_000023.11:g.71118268G>A


NC_000023.11:g.71118549A>G


NM_005120.2(MED12):c.6276_6278dup (p.Gln2115_His2116insGln)

rs748394417 
NM_005120.2(MED12):c.6300_6329del30 (p.Gln2106_Gln2115del)

rs773480549 
NM_005120.3(MED12):c.28G>T

rs373552360 
NM_005120.3(MED12):c.47A>T

rs767078113 
NM_005120.3(MED12):c.10019C>T

rs930154299 
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu)

rs764107388 
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)

rs752300879 
NM_005120.3(MED12):c.1066C>A (p.Arg356=)

rs763867883 
NM_005120.3(MED12):c.1101+18C>T

rs200510424 
NM_005120.3(MED12):c.1101+8_1101+9insCC

rs1214824818 
NM_005120.3(MED12):c.1102136G>A


NM_005120.3(MED12):c.1113G>A (p.Leu371=)


NM_005120.3(MED12):c.111G>A (p.Thr37=)

rs1057522480 
NM_005120.3(MED12):c.1167G>A (p.Lys389=)

rs374324656 
NM_005120.3(MED12):c.1248+15T>C

rs187377817 
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)

rs368913305 
NM_005120.3(MED12):c.1273dup (p.Glu425fs)

rs1556334780 
NM_005120.3(MED12):c.129A>G (p.Gln43=)

rs780634712 
NM_005120.3(MED12):c.1332C>T (p.Cys444=)

rs746205041 
NM_005120.3(MED12):c.1344T>G (p.Thr448=)

rs375202766 
NM_005120.3(MED12):c.1348+18G>A

rs776024292 
NM_005120.3(MED12):c.134911T>C

rs775255445 
NM_005120.3(MED12):c.1386G>T (p.Val462=)

rs186153976 
NM_005120.3(MED12):c.1485+6C>T

rs565198403 
NM_005120.3(MED12):c.1485+96A>G


NM_005120.3(MED12):c.1547G>A (p.Arg516His)

rs1556334969 
NM_005120.3(MED12):c.1602G>A (p.Ala534=)

rs1057523461 
NM_005120.3(MED12):c.16188T>C

rs1057522084 
NM_005120.3(MED12):c.1659C>T (p.Ile553=)

rs763388314 
NM_005120.3(MED12):c.1660G>A (p.Ala554Thr)

rs863223709 
NM_005120.3(MED12):c.1682C>T (p.Pro561Leu)

rs766485358 
NM_005120.3(MED12):c.1695T>A (p.Ile565=)

rs138984044 
NM_005120.3(MED12):c.1732G>C (p.Ala578Pro)

rs1131691350 
NM_005120.3(MED12):c.1744+14C>T

rs1263378137 
NM_005120.3(MED12):c.1744+4C>T

rs780750721 
NM_005120.3(MED12):c.1744+51A>G


NM_005120.3(MED12):c.174519C>T

rs1057524262 
NM_005120.3(MED12):c.1754G>A (p.Arg585Gln)

rs747113641 
NM_005120.3(MED12):c.183C>T (p.Asn61=)

rs770411750 
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)

rs765417606 
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu)

rs1057524167 
NM_005120.3(MED12):c.1929C>T (p.Asp643=)

rs758195942 
NM_005120.3(MED12):c.1974+93G>C


NM_005120.3(MED12):c.19755C>T

rs200891932 
NM_005120.3(MED12):c.204+12_204+13del

rs200301833 
NM_005120.3(MED12):c.204+13T>G

rs901178143 
NM_005120.3(MED12):c.20538C>T

rs12850852 
NM_005120.3(MED12):c.205620C>T

rs1057521831 
NM_005120.3(MED12):c.205663G>T


NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)

rs863223710 
NM_005120.3(MED12):c.2220C>T (p.Ile740=)

rs370195616 
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser)

rs863223700 
NM_005120.3(MED12):c.2259G>A (p.Arg753=)

rs61752446 
NM_005120.3(MED12):c.2422+120T>G


NM_005120.3(MED12):c.2613G>A (p.Gln871=)

rs372344160 
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)

rs1057524478 
NM_005120.3(MED12):c.2748C>A (p.Gly916=)

rs768686458 
NM_005120.3(MED12):c.2750G>A (p.Ser917Asn)

rs1556336129 
NM_005120.3(MED12):c.27C>T (p.Tyr9=)

rs376743527 
NM_005120.3(MED12):c.28507C>G

rs1556336208 
NM_005120.3(MED12):c.2886C>T (p.Ser962=)

rs34761462 
NM_005120.3(MED12):c.2981+13G>A

rs73214870 
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)

rs201807437 
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)

rs863223704 
NM_005120.3(MED12):c.3231G>T (p.Leu1077=)

rs1556336518 
NM_005120.3(MED12):c.3354+54G>A


NM_005120.3(MED12):c.335516C>G


NM_005120.3(MED12):c.335516_335513del

rs1556336608 
NM_005120.3(MED12):c.33558dup

rs750373111 
NM_005120.3(MED12):c.3412C>A (p.Arg1138=)

rs1057523906 
NM_005120.3(MED12):c.3456C>T (p.Ile1152=)

rs1556336642 
NM_005120.3(MED12):c.3516C>A (p.Thr1172=)

rs1057521581 
NM_005120.3(MED12):c.3516C>G (p.Thr1172=)

rs1057521581 
NM_005120.3(MED12):c.3577+17T>G

rs1057523979 
NM_005120.3(MED12):c.3577+9C>A

rs1556336775 
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile)

rs1057524217 
NM_005120.3(MED12):c.3691+4C>T

rs373381746 
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)

rs184162709 
NM_005120.3(MED12):c.3785G>A (p.Arg1262Lys)

rs202120461 
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)

rs587780391 
NM_005120.3(MED12):c.3801C>T (p.Asn1267=)

rs1057520418 
NM_005120.3(MED12):c.381G>A (p.Thr127=)

rs202125318 
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)

rs369268877 
NM_005120.3(MED12):c.3844G>A (p.Val1282Met)

rs398124197 
NM_005120.3(MED12):c.384A>G (p.Gln128=)

rs201566660 
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)

rs863223706 
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)


NM_005120.3(MED12):c.3928_3930delinsTCC (p.Pro1310Ser)

rs863223712 
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)

rs3810670 
NM_005120.3(MED12):c.3968T>C (p.Leu1323Pro)

rs1556337085 
NM_005120.3(MED12):c.39712A>G

rs192515277 
NM_005120.3(MED12):c.39712A>T

rs192515277 
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)

rs777250096 
NM_005120.3(MED12):c.4047+223A>G


NM_005120.3(MED12):c.404812C>T

rs1556337459 
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)

rs587778437 
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)

rs202009066 
NM_005120.3(MED12):c.412012C>T

rs1556337617 
NM_005120.3(MED12):c.4146C>T (p.Ile1382=)

rs923552252 
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)

rs863223696 
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)

rs1366165823 
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)

rs376058351 
NM_005120.3(MED12):c.4265G>A (p.Arg1422His)

rs1255849432 
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)

rs763359998 
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg)

rs863223698 
NM_005120.3(MED12):c.438A>G (p.Leu146=)

rs35068602 
NM_005120.3(MED12):c.4415+128A>G


NM_005120.3(MED12):c.4415+29T>C

rs10521349 
NM_005120.3(MED12):c.441643_441614del

rs1556337864 
NM_005120.3(MED12):c.441677CTCTT[11]

rs56658066 
NM_005120.3(MED12):c.441677CTCTT[6]

rs56658066 
NM_005120.3(MED12):c.441677CTCTT[7]

rs56658066 
NM_005120.3(MED12):c.441677CTCTT[8]

rs56658066 
NM_005120.3(MED12):c.4428G>A (p.Leu1476=)


NM_005120.3(MED12):c.4470A>G (p.Lys1490=)

rs766138859 
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)

rs531754497 
NM_005120.3(MED12):c.452819T>C

rs370859385 
NM_005120.3(MED12):c.4665G>A (p.Thr1555=)

rs375001801 
NM_005120.3(MED12):c.473G>A (p.Trp158Ter)

rs1556334114 
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)

rs727503868 
NM_005120.3(MED12):c.4851G>A (p.Ala1617=)

rs377210068 
NM_005120.3(MED12):c.4863+15C>T

rs778076528 
NM_005120.3(MED12):c.48646C>T

rs1018026145 
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)

rs759857680 
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)

rs756839501 
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)

rs376179450 
NM_005120.3(MED12):c.5025+156_5025+157del


NM_005120.3(MED12):c.502612T>A

rs1057520901 
NM_005120.3(MED12):c.502617T>C

rs1556338729 
NM_005120.3(MED12):c.5026189G>C


NM_005120.3(MED12):c.5026249A>T


NM_005120.3(MED12):c.5088G>A (p.Pro1696=)

rs202167558 
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)

rs762801267 
NM_005120.3(MED12):c.5125C>T (p.Arg1709Ter)

rs886041581 
NM_005120.3(MED12):c.5135_5138dup (p.Val1714fs)

rs1556338764 
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)

rs753355369 
NM_005120.3(MED12):c.5205C>T (p.Arg1735=)

rs747836622 
NM_005120.3(MED12):c.5400+6C>T

rs192656109 
NM_005120.3(MED12):c.5400+7G>A

rs201254124 
NM_005120.3(MED12):c.540187T>C


NM_005120.3(MED12):c.5490A>C (p.Thr1830=)

rs762466624 
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala)

rs200328506 
NM_005120.3(MED12):c.553+12C>G

rs1556334127 
NM_005120.3(MED12):c.553+302C>G


NM_005120.3(MED12):c.5535C>T (p.Asn1845=)

rs34784349 
NM_005120.3(MED12):c.55483A>G


NM_005120.3(MED12):c.5563G>A (p.Val1855Met)

rs1085307774 
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)

rs587778438 
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)

rs147354926 
NM_005120.3(MED12):c.5659G>A (p.Gly1887Ser)

rs758621985 
NM_005120.3(MED12):c.568A>G (p.Ile190Val)

rs374780236 
NM_005120.3(MED12):c.5709T>A (p.Pro1903=)


NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)

rs200663107 
NM_005120.3(MED12):c.5712G>A (p.Ala1904=)

rs189962028 
NM_005120.3(MED12):c.5748+16G>T

rs199760183 
NM_005120.3(MED12):c.5775A>G (p.Ser1925=)

rs376753995 
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)

rs201608537 
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter)

rs1569482431 
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala)

rs1064796982 
NM_005120.3(MED12):c.6044+16G>C

rs367904425 
NM_005120.3(MED12):c.604524C>T

rs140083803 
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)

rs200692655 
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)

rs372606012 
NM_005120.3(MED12):c.6121G>A (p.Gly2041Ser)

rs901541873 
NM_005120.3(MED12):c.6139A>G (p.Ile2047Val)

rs748668603 
NM_005120.3(MED12):c.6150_6152GCA[4] (p.Gln2075_Gln2076del)

rs769857818 
NM_005120.3(MED12):c.6177_6182ACAGCA[1] (p.Gln2075_Gln2076del)


NM_005120.3(MED12):c.6186_6188GCA[6] (p.Gln2076dup)

rs754533796 
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)

rs375793297 
NM_005120.3(MED12):c.6208_6210CAG[8] (p.Gln2076dup)

rs757160341 
NM_005120.3(MED12):c.6208_6210CAG[9] (p.Gln2075_Gln2076dup)

rs757160341 
NM_005120.3(MED12):c.6235A>G (p.Ile2079Val)

rs200820997 
NM_005120.3(MED12):c.6241_6243CAG[5] (p.Gln2086del)

rs786200971 
NM_005120.3(MED12):c.6241_6243CAG[7] (p.Gln2086dup)

rs786200971 
NM_005120.3(MED12):c.6267+20T>C

rs1032542640 
NM_005120.3(MED12):c.6279A>G (p.Gln2093=)

rs1050062166 
NM_005120.3(MED12):c.6279_6284ACAGCA[3] (p.Gln2114_Gln2115dup)

rs761195801 
NM_005120.3(MED12):c.6288_6290GCA[8] (p.Gln2115dup)

rs766775649 
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup)

rs766775649 
NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del)

rs764789036 
NM_005120.3(MED12):c.6318_6320GCA[5] (p.Gln2115dup)

rs1168018409 
NM_005120.3(MED12):c.6336_6362del (p.Gln2115_Gln2123del)

rs1353930135 
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup)

rs398124200 
NM_005120.3(MED12):c.6408+16C>T

rs1057522248 
NM_005120.3(MED12):c.6409114T>C


NM_005120.3(MED12):c.6409125T>C


NM_005120.3(MED12):c.640914C>A

rs374791085 
NM_005120.3(MED12):c.6422G>A (p.Gly2141Glu)

rs1556340261 
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)

rs1085307941 
NM_005120.3(MED12):c.649158G>A


NM_005120.3(MED12):c.6526C>T (p.Arg2176Cys)

rs777818556 
NM_005120.3(MED12):c.735+15A>G

rs202206536 
NM_005120.3(MED12):c.73614C>G

rs373707149 
NM_005120.3(MED12):c.7364A>G

rs371311763 
NM_005120.3(MED12):c.845G>A (p.Arg282Gln)

rs1278775881 
NM_005120.3(MED12):c.934G>C (p.Val312Leu)

rs377403264 
NM_005120.3(MED12):c.93G>C (p.Gln31His)

rs1057521988 