NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_005120.3(MED12):c.2312T>C (p.Ile771Thr)
|
rs778325168
|
0.00001
|
NM_005120.3(MED12):c.2444G>A (p.Arg815Gln)
|
rs762905361
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
NM_005120.3(MED12):c.2669T>A (p.Ile890Asn)
|
rs2147796647
|
|
NM_005120.3(MED12):c.2692A>G (p.Asn898Asp)
|
rs2147797665
|
|
NM_005120.3(MED12):c.2735C>T (p.Ser912Leu)
|
rs2147797835
|
|
NM_005120.3(MED12):c.2786T>A (p.Val929Asp)
|
rs2147798220
|
|
NM_005120.3(MED12):c.2861T>G (p.Val954Gly)
|
rs2147799283
|
|
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.3020A>G (p.Asn1007Ser)
|
rs80338759
|
|
NM_005120.3(MED12):c.3067A>G (p.Ile1023Val)
|
rs879255526
|
|
NM_005120.3(MED12):c.322C>T (p.Arg108Ter)
|
rs2147773440
|
|
NM_005120.3(MED12):c.3271G>A (p.Glu1091Lys)
|
rs2147802318
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3443G>A (p.Arg1148His)
|
rs387907360
|
|
NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro)
|
rs387907361
|
|
NM_005120.3(MED12):c.3640C>T (p.Arg1214Cys)
|
rs2092311077
|
|
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.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.3884G>A (p.Arg1295His)
|
rs1556337063
|
|
NM_005120.3(MED12):c.3932T>A (p.Val1311Glu)
|
rs2147808490
|
|
NM_005120.3(MED12):c.3935T>C (p.Leu1312Ser)
|
rs2147808505
|
|
NM_005120.3(MED12):c.4070G>A (p.Arg1357His)
|
rs2147811858
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4400G>A (p.Arg1467Gln)
|
rs1488533087
|
|
NM_005120.3(MED12):c.4669T>C (p.Trp1557Arg)
|
rs794727576
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4903_4906delinsCCAGCA (p.Val1635fs)
|
rs2147823333
|
|
NM_005120.3(MED12):c.5111G>A (p.Trp1704Ter)
|
rs2147826070
|
|
NM_005120.3(MED12):c.514G>C (p.Glu172Gln)
|
rs2147774632
|
|
NM_005120.3(MED12):c.5185C>A (p.His1729Asn)
|
rs387907362
|
|
NM_005120.3(MED12):c.5622C>A (p.Tyr1874Ter)
|
rs2147829167
|
|
NM_005120.3(MED12):c.5898dup (p.Ser1967fs)
|
rs879255527
|
|
NM_005120.3(MED12):c.5919C>A (p.Tyr1973Ter)
|
rs2147830849
|
|
NM_005120.3(MED12):c.5922G>T (p.Gln1974His)
|
rs879255528
|
|
NM_005120.3(MED12):c.6169C>T (p.Gln2057Ter)
|
rs2147839335
|
|
NM_005120.3(MED12):c.6231C>A (p.Tyr2077Ter)
|
rs2147839986
|
|
NM_005120.3(MED12):c.6241CAG[3] (p.Gln2084_Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6268C>T (p.Gln2090Ter)
|
rs2147841562
|
|
NM_005120.3(MED12):c.6280C>T (p.Gln2094Ter)
|
rs2147841653
|
|
NM_005120.3(MED12):c.6448C>T (p.Gln2150Ter)
|
rs2147844887
|
|
NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro)
|
rs1085307941
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|