GRCh37/hg19 Xq13.1(chrX:7034480270345036)x1


NC_000023.10:g.(?_70348964)_(70350064_?)dup


NC_000023.11:g.71118268G>A


NC_000023.11:g.71118549A>G


NC_000023.11:g.71119648C>T


NC_000023.11:g.71129143G>T


NC_000023.11:g.71132567T>C


NC_000023.11:g.71140611C>T


NM_005120.2(MED12):c.204+12_204+13delCT

rs200301833 
NM_005120.2(MED12):c.335516_335513delCTGT

rs1556336608 
NM_005120.2(MED12):c.33558dupT

rs750373111 
NM_005120.2(MED12):c.441620_441616delCTTCT

rs56658066 
NM_005120.2(MED12):c.441620_441616dupCTTCT

rs56658066 
NM_005120.2(MED12):c.441645_441616delCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT

rs56658066 
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.1001_139del

rs199469676 
NM_005120.3(MED12):c.1008T>A

rs199469675 
NM_005120.3(MED12):c.100_141del (p.Asp34_Asn47del)

rs199469677 
NM_005120.3(MED12):c.1028C>T (p.Ser343Leu)

rs764107388 
NM_005120.3(MED12):c.1030A>C (p.Thr344Pro)

rs1556334571 
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)

rs752300879 
NM_005120.3(MED12):c.103_138del (p.Glu35_Asn46del)

rs199469678 
NM_005120.3(MED12):c.1066C>A (p.Arg356=)

rs763867883 
NM_005120.3(MED12):c.107T>G (p.Leu36Arg)

rs199469667 
NM_005120.3(MED12):c.107_111delinsGC (p.Leu36_Thr37delinsArg)

rs199469679 
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.111_155del (p.Ala38_Ser52del)

rs199469681 
NM_005120.3(MED12):c.113_121del (p.Ala38_Asn40del)

rs199469682 
NM_005120.3(MED12):c.1140C>T (p.His380=)

rs753714929 
NM_005120.3(MED12):c.1167G>A (p.Lys389=)

rs374324656 
NM_005120.3(MED12):c.117_122del (p.Asn40_Val41del)

rs199469683 
NM_005120.3(MED12):c.118_132del (p.Asn40_Gly44del)

rs199469684 
NM_005120.3(MED12):c.118_134delinsTA (p.Asn40_Phe45delinsTyr)

rs199469680 
NM_005120.3(MED12):c.118_146delinsTT (p.Asn40_Pro49delinsPhe)

rs199469685 
NM_005120.3(MED12):c.1203G>A (p.Pro401=)


NM_005120.3(MED12):c.1208A>G (p.Asn403Ser)


NM_005120.3(MED12):c.122_148del (p.Val41_Pro49del)

rs199469686 
NM_005120.3(MED12):c.122_163del (p.Val41_Asp54del)

rs199469687 
NM_005120.3(MED12):c.123_152del (p.Lys42_Val51del)

rs199469688 
NM_005120.3(MED12):c.1248+15T>C

rs187377817 
NM_005120.3(MED12):c.1253G>A (p.Arg418His)

rs1431487428 
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)

rs368913305 
NM_005120.3(MED12):c.1269G>A (p.Glu423=)

rs758467351 
NM_005120.3(MED12):c.126_131del (p.Lys42_Gly44delinsAsn)

rs199469689 
NM_005120.3(MED12):c.126_140del (p.Lys42_Asn46del)

rs199469690 
NM_005120.3(MED12):c.1273dup (p.Glu425fs)

rs1556334780 
NM_005120.3(MED12):c.128A>C (p.Gln43Pro)

rs199469668 
NM_005120.3(MED12):c.1290G>A (p.Glu430=)

rs1556334791 
NM_005120.3(MED12):c.129A>G (p.Gln43=)

rs780634712 
NM_005120.3(MED12):c.129_137del (p.Gln43_Asn46delinsHis)

rs199469691 
NM_005120.3(MED12):c.129_143del (p.Gly44_Gln48del)

rs199469692 
NM_005120.3(MED12):c.1300del (p.Ala434fs)

rs1556334793 
NM_005120.3(MED12):c.130G>A (p.Gly44Ser)

rs199469669 
NM_005120.3(MED12):c.130G>C (p.Gly44Arg)

rs199469669 
NM_005120.3(MED12):c.130G>T (p.Gly44Cys)

rs199469669 
NM_005120.3(MED12):c.1313G>A (p.Arg438His)

rs587778439 
NM_005120.3(MED12):c.131G>A (p.Gly44Asp)

rs199469672 
NM_005120.3(MED12):c.131G>C (p.Gly44Ala)

rs199469672 
NM_005120.3(MED12):c.131G>T (p.Gly44Val)

rs199469672 
NM_005120.3(MED12):c.1332C>T (p.Cys444=)

rs746205041 
NM_005120.3(MED12):c.133_144del (p.Phe45_Gln48del)

rs199469693 
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.1416C>T (p.Asp472=)

rs1569481100 
NM_005120.3(MED12):c.1475A>G (p.Asp492Gly)

rs1292888378 
NM_005120.3(MED12):c.1485+5G>A


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

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


NM_005120.3(MED12):c.149_163del (p.Ala50_Asp54del)

rs199469694 
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.1562G>A (p.Arg521His)

rs875989806 
NM_005120.3(MED12):c.1602G>A (p.Ala534=)

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

rs1057522084 
NM_005120.3(MED12):c.1619G>A (p.Arg540His)


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.1671C>T (p.Ser557=)

rs1556335123 
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.1744+5G>A

rs368353373 
NM_005120.3(MED12):c.174519C>T

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

rs747113641 
NM_005120.3(MED12):c.1807C>T (p.Leu603=)

rs797045696 
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.184G>A (p.Val62Ile)

rs1039763693 
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)

rs1057519381 
NM_005120.3(MED12):c.1892C>T (p.Pro631Leu)

rs1057524167 
NM_005120.3(MED12):c.1924G>A (p.Asp642Asn)

rs1556335288 
NM_005120.3(MED12):c.1929C>T (p.Asp643=)

rs758195942 
NM_005120.3(MED12):c.1956C>T (p.Ser652=)

rs199873151 
NM_005120.3(MED12):c.1963A>G (p.Ser655Gly)

rs1569481250 
NM_005120.3(MED12):c.1974+93G>C


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

rs200891932 
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)

rs1307587368 
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.2068A>G (p.Thr690Ala)

rs878854752 
NM_005120.3(MED12):c.2093G>A (p.Ser698Asn)

rs863223710 
NM_005120.3(MED12):c.2118C>T (p.Val706=)

rs1346228842 
NM_005120.3(MED12):c.2128G>A (p.Val710Met)

rs797045697 
NM_005120.3(MED12):c.2136C>T (p.Pro712=)

rs377207665 
NM_005120.3(MED12):c.2169G>A (p.Gly723=)

rs1060504497 
NM_005120.3(MED12):c.2220C>T (p.Ile740=)

rs370195616 
NM_005120.3(MED12):c.22274G>A


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.2271G>A (p.Leu757=)


NM_005120.3(MED12):c.2274T>C (p.Phe758=)

rs779918145 
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr)

rs199860580 
NM_005120.3(MED12):c.2383C>T (p.Pro795Ser)


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


NM_005120.3(MED12):c.2422+30C>T

rs2075790 
NM_005120.3(MED12):c.2422+6T>G

rs1569481413 
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)

rs762905361 
NM_005120.3(MED12):c.2450G>A (p.Arg817His)


NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)

rs1135401775 
NM_005120.3(MED12):c.2571G>A (p.Thr857=)


NM_005120.3(MED12):c.2571G>C (p.Thr857=)

rs368090262 
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.281C>T (p.Pro94Leu)


NM_005120.3(MED12):c.2849+14C>T

rs398124196 
NM_005120.3(MED12):c.28507C>G

rs1556336208 
NM_005120.3(MED12):c.2867A>G (p.Lys956Arg)

rs1569481527 
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.2886C>T (p.Ser962=)

rs34761462 
NM_005120.3(MED12):c.2895C>T (p.Ser965=)

rs1060504496 
NM_005120.3(MED12):c.2981+13G>A

rs73214870 
NM_005120.3(MED12):c.2982C>T (p.Ser994=)

rs886039139 
NM_005120.3(MED12):c.2990G>A (p.Cys997Tyr)

rs1556336381 
NM_005120.3(MED12):c.3009C>A (p.Thr1003=)

rs375493995 
NM_005120.3(MED12):c.3020A>G (p.Asn1007Ser)

rs80338759 
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)

rs797045698 
NM_005120.3(MED12):c.3063C>T (p.Phe1021=)

rs797045698 
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)

rs879255526 
NM_005120.3(MED12):c.3110C>T (p.Thr1037Met)


NM_005120.3(MED12):c.3125G>A (p.Ser1042Asn)

rs1556336419 
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)

rs201807437 
NM_005120.3(MED12):c.321027C>T

rs752463122 
NM_005120.3(MED12):c.3210G>T (p.Arg1070Ser)

rs863223704 
NM_005120.3(MED12):c.3219C>T (p.Asp1073=)

rs1266845318 
NM_005120.3(MED12):c.3222C>T (p.Ile1074=)

rs374156594 
NM_005120.3(MED12):c.3231G>T (p.Leu1077=)

rs1556336518 
NM_005120.3(MED12):c.3303C>G (p.Cys1101Trp)

rs1556336534 
NM_005120.3(MED12):c.3354+26A>G

rs749625903 
NM_005120.3(MED12):c.3354+27G>C

rs5030617 
NM_005120.3(MED12):c.3354+54G>A


NM_005120.3(MED12):c.3354+6A>G

rs770027742 
NM_005120.3(MED12):c.335516C>G


NM_005120.3(MED12):c.3357C>T (p.Val1119=)

rs773679943 
NM_005120.3(MED12):c.3412C>A (p.Arg1138=)

rs1057523906 
NM_005120.3(MED12):c.3413G>A (p.Arg1138Gln)

rs869312960 
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)

rs387907360 
NM_005120.3(MED12):c.3443G>T (p.Arg1148Leu)

rs387907360 
NM_005120.3(MED12):c.3456C>T (p.Ile1152=)

rs1556336642 
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.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.3582G>A (p.Lys1194=)

rs1060504499 
NM_005120.3(MED12):c.3587C>A (p.Thr1196Lys)

rs1556336812 
NM_005120.3(MED12):c.3667G>A (p.Val1223Ile)

rs1057524217 
NM_005120.3(MED12):c.3670C>G (p.Leu1224Val)

rs1057519912 
NM_005120.3(MED12):c.3670C>T (p.Leu1224Phe)

rs1057519912 
NM_005120.3(MED12):c.3691+4C>T

rs373381746 
NM_005120.3(MED12):c.3693G>T (p.Gly1231=)


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

rs184162709 
NM_005120.3(MED12):c.369C>T (p.Thr123=)


NM_005120.3(MED12):c.3721A>G (p.Thr1241Ala)


NM_005120.3(MED12):c.3745C>T (p.Leu1249Phe)

rs1422779785 
NM_005120.3(MED12):c.3762_3764AGG[1] (p.Gly1257del)


NM_005120.3(MED12):c.3769G>A (p.Gly1257Ser)


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

rs202120461 
NM_005120.3(MED12):c.3796C>T (p.Arg1266Cys)

rs1060502168 
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.380C>T (p.Thr127Met)

rs775072642 
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.3849G>T (p.Leu1283=)

rs377409217 
NM_005120.3(MED12):c.384A>G (p.Gln128=)

rs201566660 
NM_005120.3(MED12):c.38687T>A

rs587780392 
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.3918C>T (p.Asp1306=)


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

rs863223712 
NM_005120.3(MED12):c.3930A>C (p.Pro1310=)

rs5030619 
NM_005120.3(MED12):c.3942T>C (p.Ser1314=)

rs3810670 
NM_005120.3(MED12):c.3948G>A (p.Gln1316=)

rs1359267668 
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.3979C>A (p.Pro1327Thr)

rs1569481764 
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)

rs797045699 
NM_005120.3(MED12):c.4009G>A (p.Glu1337Lys)

rs1057520129 
NM_005120.3(MED12):c.4021C>T (p.Arg1341Trp)

rs777250096 
NM_005120.3(MED12):c.4028G>A (p.Arg1343His)

rs201044355 
NM_005120.3(MED12):c.4041T>C (p.Ile1347=)

rs769884032 
NM_005120.3(MED12):c.4047+14G>A

rs774488297 
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.4154C>T (p.Ala1385Val)

rs771349148 
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)

rs1366165823 
NM_005120.3(MED12):c.4161C>T (p.Ile1387=)

rs776947543 
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)

rs376058351 
NM_005120.3(MED12):c.4231A>G (p.Ser1411Gly)


NM_005120.3(MED12):c.4238C>A (p.Thr1413Asn)

rs759532414 
NM_005120.3(MED12):c.4253+4G>A

rs750162341 
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.4342G>A (p.Gly1448Arg)

rs1057518921 
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.441648T>C

rs12849277 
NM_005120.3(MED12):c.441677CTCTT[16]

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

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

rs56658066 
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)

rs370211858 
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.4505C>G (p.Ser1502Cys)

rs1369442321 
NM_005120.3(MED12):c.452819T>C

rs370859385 
NM_005120.3(MED12):c.4620G>A (p.Val1540=)

rs756385578 
NM_005120.3(MED12):c.4650C>T (p.Ser1550=)

rs886039075 
NM_005120.3(MED12):c.4651A>G (p.Thr1551Ala)


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

rs375001801 
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)

rs794727576 
NM_005120.3(MED12):c.4711G>A (p.Asp1571Asn)


NM_005120.3(MED12):c.4725C>A (p.Asn1575Lys)

rs1556338296 
NM_005120.3(MED12):c.473G>A (p.Trp158Ter)

rs1556334114 
NM_005120.3(MED12):c.4806G>T (p.Ser1602=)

rs755218771 
NM_005120.3(MED12):c.4831C>G (p.Arg1611Gly)

rs727503868 
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.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.4870T>G (p.Leu1624Val)

rs766406937 
NM_005120.3(MED12):c.4880G>A (p.Arg1627His)

rs759857680 
NM_005120.3(MED12):c.492T>C (p.Cys164=)

rs886039163 
NM_005120.3(MED12):c.4950G>A (p.Thr1650=)

rs756839501 
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)

rs398124198 
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)

rs376179450 
NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del)


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.503C>T (p.Ala168Val)


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

rs202167558 
NM_005120.3(MED12):c.5092G>A (p.Ala1698Thr)

rs1556338747 
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.5185C>A (p.His1729Asn)

rs387907362 
NM_005120.3(MED12):c.5190G>C (p.Leu1730=)

rs753355369 
NM_005120.3(MED12):c.5192G>A (p.Arg1731Lys)

rs1569482278 
NM_005120.3(MED12):c.5205C>T (p.Arg1735=)

rs747836622 
NM_005120.3(MED12):c.5252C>T (p.Pro1751Leu)

rs748064846 
NM_005120.3(MED12):c.5253G>A (p.Pro1751=)

rs770067057 
NM_005120.3(MED12):c.5258C>T (p.Ala1753Val)

rs1246253918 
NM_005120.3(MED12):c.5266C>T (p.Leu1756=)

rs1556338815 
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)


NM_005120.3(MED12):c.5316G>A (p.Pro1772=)

rs398124199 
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.5360C>G (p.Thr1787Ser)


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

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

rs201254124 
NM_005120.3(MED12):c.540125C>T

rs41298482 
NM_005120.3(MED12):c.540187T>C


NM_005120.3(MED12):c.5418G>A (p.Pro1806=)

rs770957462 
NM_005120.3(MED12):c.5423G>A (p.Arg1808Gln)


NM_005120.3(MED12):c.5427C>T (p.Ser1809=)

rs772462354 
NM_005120.3(MED12):c.5442G>C (p.Val1814=)

rs773540568 
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)

rs867576281 
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.5585G>A (p.Arg1862His)

rs773713291 
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)

rs587778438 
NM_005120.3(MED12):c.5602C>G (p.Leu1868Val)


NM_005120.3(MED12):c.5616A>G (p.Pro1872=)

rs750250372 
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)

rs147354926 
NM_005120.3(MED12):c.5653G>A (p.Val1885Ile)


NM_005120.3(MED12):c.5655C>T (p.Val1885=)

rs1556339100 
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.5779G>A (p.Val1927Ile)

rs1556339193 
NM_005120.3(MED12):c.5805C>T (p.Ser1935=)

rs201608537 
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)

rs879255527 
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter)

rs1569482431 
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)

rs879255528 
NM_005120.3(MED12):c.5957A>C (p.Asp1986Ala)

rs1064796982 
NM_005120.3(MED12):c.5980C>T (p.Arg1994Trp)

rs1556339256 
NM_005120.3(MED12):c.5989G>T (p.Gly1997Cys)

rs1556339260 
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)

rs769232520 
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.6103G>A (p.Ala2035Thr)


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.6150_6152GCA[7] (p.Gln2076dup)


NM_005120.3(MED12):c.6168A>G (p.Gln2056=)

rs745565325 
NM_005120.3(MED12):c.616C>G (p.Arg206Gly)

rs1556334331 
NM_005120.3(MED12):c.6177_6182ACAGCA[1] (p.Gln2075_Gln2076del)


NM_005120.3(MED12):c.6177_6182ACAGCA[3] (p.Gln2075_Gln2076dup)

rs753370104 
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)

rs767827315 
NM_005120.3(MED12):c.6177_6200ACAGCAACAGCAGCAGCAGCAGCA[1] (p.Gln2069_Gln2076del)

rs773709991 
NM_005120.3(MED12):c.6186_6188GCA[3] (p.Gln2075_Gln2076del)

rs754533796 
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.6204G>A (p.Gln2068=)

rs1283568825 
NM_005120.3(MED12):c.6208_6210CAG[6] (p.Gln2076del)

rs757160341 
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.6239G>A (p.Arg2080Gln)


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+166G>A

rs1247198443 
NM_005120.3(MED12):c.6267+20T>C

rs1032542640 
NM_005120.3(MED12):c.62684A>G

rs780580344 
NM_005120.3(MED12):c.6273G>A (p.Gln2091=)

rs1556340048 
NM_005120.3(MED12):c.6273_6278dup (p.Gln2115_His2116insGlnGln)


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.6285A>G (p.Gln2095=)

rs794727673 
NM_005120.3(MED12):c.6288_6290GCA[10] (p.Gln2113_Gln2115dup)

rs766775649 
NM_005120.3(MED12):c.6288_6290GCA[5] (p.Gln2114_Gln2115del)

rs766775649 
NM_005120.3(MED12):c.6288_6290GCA[6] (p.Gln2115del)

rs766775649 
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.628G>C (p.Ala210Pro)

rs1379201163 
NM_005120.3(MED12):c.6291G>A (p.Gln2097=)

rs756285149 
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.6300G>A (p.Gln2100=)

rs1556340080 
NM_005120.3(MED12):c.6303G>A (p.Gln2101=)

rs1490399010 
NM_005120.3(MED12):c.6309_6314ACAGCA[1] (p.Gln2114_Gln2115del)

rs764789036 
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup)

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

rs1168018409 
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.6326A>C (p.Gln2109Pro)

rs755793630 
NM_005120.3(MED12):c.6327G>A (p.Gln2109=)

rs1333460909 
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.6339A>G (p.Gln2113=)

rs757508922 
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.6358C>T (p.Gln2120Ter)

rs1556340124 
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.6443A>G (p.Gln2148Arg)

rs1569482852 
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.653C>T (p.Thr218Met)

rs369083173 
NM_005120.3(MED12):c.701A>T (p.Asp234Val)

rs927746681 
NM_005120.3(MED12):c.708C>G (p.Thr236=)

rs34668206 
NM_005120.3(MED12):c.708C>T (p.Thr236=)

rs34668206 
NM_005120.3(MED12):c.727A>C (p.Met243Leu)


NM_005120.3(MED12):c.734A>G (p.Gln245Arg)

rs1569480972 
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.7368A>C

rs62609586 
NM_005120.3(MED12):c.817C>T (p.Leu273Phe)


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

rs1278775881 
NM_005120.3(MED12):c.872C>A (p.Ala291Glu)

rs754533515 
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)

rs1556334519 
NM_005120.3(MED12):c.934G>C (p.Val312Leu)

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

rs1057521988 