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.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_005120.3(MED12):c.2413A>C (p.Thr805Pro)
|
rs747413033
|
0.00008
|
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.5301C>G (p.Pro1767=)
|
rs1381304769
|
0.00005
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_005120.3(MED12):c.2395C>T (p.Leu799=)
|
rs1280842063
|
0.00003
|
NM_005120.3(MED12):c.2895C>T (p.Ser965=)
|
rs1060504496
|
0.00003
|
NM_005120.3(MED12):c.6465C>T (p.Val2155=)
|
rs764620745
|
0.00003
|
NM_005120.3(MED12):c.1170C>T (p.Thr390=)
|
rs772236514
|
0.00002
|
NM_005120.3(MED12):c.380C>T (p.Thr127Met)
|
rs775072642
|
0.00002
|
NM_005120.3(MED12):c.5124C>A (p.Val1708=)
|
rs775912778
|
0.00002
|
NM_005120.3(MED12):c.5427C>T (p.Ser1809=)
|
rs772462354
|
0.00002
|
NM_005120.3(MED12):c.2169G>A (p.Gly723=)
|
rs1060504497
|
0.00001
|
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.2937C>T (p.Tyr979=)
|
rs758935114
|
0.00001
|
NM_005120.3(MED12):c.3849G>T (p.Leu1283=)
|
rs377409217
|
0.00001
|
NM_005120.3(MED12):c.4382C>T (p.Ser1461Leu)
|
rs1458136598
|
0.00001
|
NM_005120.3(MED12):c.5758G>A (p.Gly1920Ser)
|
rs1415832392
|
0.00001
|
NM_005120.3(MED12):c.5862G>A (p.Gln1954=)
|
rs1191896226
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005120.3(MED12):c.6186G>C (p.Gln2062His)
|
rs1362044936
|
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
|
|
|
NM_005120.3(MED12):c.1249-1G>C
|
rs2147783158
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.1923C>G (p.Ala641=)
|
rs754725206
|
|
NM_005120.3(MED12):c.2207_2210del (p.Thr736fs)
|
rs2147791922
|
|
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)
|
rs867655376
|
|
NM_005120.3(MED12):c.2286G>A (p.Lys762=)
|
rs1602297586
|
|
NM_005120.3(MED12):c.2663dup (p.Leu889fs)
|
rs2147796613
|
|
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.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.3505G>T (p.Ala1169Ser)
|
rs1602299778
|
|
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.397-12A>G
|
rs192515277
|
|
NM_005120.3(MED12):c.4048-3C>T
|
|
|
NM_005120.3(MED12):c.4069C>T (p.Arg1357Cys)
|
|
|
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.4416-77CTCTT[14]
|
rs56658066
|
|
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
|
|
|
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.4863+1G>A
|
|
|
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.5655C>T (p.Val1885=)
|
rs1556339100
|
|
NM_005120.3(MED12):c.5754T>C (p.Ser1918=)
|
rs1602305150
|
|
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.6211del (p.Gln2071fs)
|
|
|
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.6241CAG[7] (p.Gln2086dup)
|
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.6352CAGCAACAG[3] (p.Gln2121_Gln2123dup)
|
rs1433422316
|
|
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.6529_6530delinsCT (p.Tyr2177Leu)
|
rs2092350107
|
|
NM_005120.3(MED12):c.728T>C (p.Met243Thr)
|
|
|
NM_005120.3(MED12):c.886C>T (p.Arg296Trp)
|
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|