NC_000023.11:g.71118268G>A


NC_000023.11:g.71118549A>G


NC_000023.11:g.71119648C>T


NC_000023.11:g.71132567T>C


NC_000023.11:g.71140611C>T


NM_005120.2(MED12):c.441620_441616dupCTTCT

rs56658066 
NM_005120.2(MED12):c.6300_6329del30 (p.Gln2106_Gln2115del)

rs773480549 
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)

rs752300879 
NM_005120.3(MED12):c.1102136G>A


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


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.1416C>T (p.Asp472=)

rs1569481100 
NM_005120.3(MED12):c.1485+96A>G


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

rs1556334969 
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.1732G>C (p.Ala578Pro)

rs1131691350 
NM_005120.3(MED12):c.1744+51A>G


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

rs747113641 
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.1974+93G>C


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


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

rs863223710 
NM_005120.3(MED12):c.2252A>G (p.Asn751Ser)

rs863223700 
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.2750G>A (p.Ser917Asn)

rs1556336129 
NM_005120.3(MED12):c.2849+14C>T

rs398124196 
NM_005120.3(MED12):c.3063C>A (p.Phe1021Leu)

rs797045698 
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.3354+54G>A


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

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


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

rs1057524217 
NM_005120.3(MED12):c.369C>T (p.Thr123=)


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.381G>A (p.Thr127=)

rs202125318 
NM_005120.3(MED12):c.3844G>A (p.Val1282Met)

rs398124197 
NM_005120.3(MED12):c.38687T>A

rs587780392 
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.3968T>C (p.Leu1323Pro)

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

rs192515277 
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.4047+223A>G


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

rs202009066 
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.4238C>A (p.Thr1413Asn)

rs759532414 
NM_005120.3(MED12):c.4265G>A (p.Arg1422His)

rs1255849432 
NM_005120.3(MED12):c.4372G>C (p.Gly1458Arg)

rs863223698 
NM_005120.3(MED12):c.4415+128A>G


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

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


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

rs756385578 
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)

rs794727576 
NM_005120.3(MED12):c.473G>A (p.Trp158Ter)

rs1556334114 
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.4880G>A (p.Arg1627His)

rs759857680 
NM_005120.3(MED12):c.4971T>C (p.Leu1657=)

rs398124198 
NM_005120.3(MED12):c.5025+156_5025+157del


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


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


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.5316G>A (p.Pro1772=)

rs398124199 
NM_005120.3(MED12):c.5400+6C>T

rs192656109 
NM_005120.3(MED12):c.540187T>C


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


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


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

rs1085307774 
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)

rs147354926 
NM_005120.3(MED12):c.5709T>A (p.Pro1903=)


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

rs200663107 
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.6121G>A (p.Gly2041Ser)

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

rs748668603 
NM_005120.3(MED12):c.6177_6182ACAGCA[1] (p.Gln2075_Gln2076del)


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

rs200820997 
NM_005120.3(MED12):c.6285A>G (p.Gln2095=)

rs794727673 
NM_005120.3(MED12):c.6288_6290GCA[9] (p.Gln2114_Gln2115dup)

rs766775649 
NM_005120.3(MED12):c.6309_6314ACAGCA[3] (p.Gln2114_Gln2115dup)

rs764789036 
NM_005120.3(MED12):c.6409114T>C


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


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.653C>T (p.Thr218Met)

rs369083173 
NM_005120.3(MED12):c.734A>G (p.Gln245Arg)

rs1569480972 
NM_005120.3(MED12):c.93G>C (p.Gln31His)

rs1057521988 