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.5401-25C>T
|
rs41298482
|
0.15124
|
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.2259G>A (p.Arg753=)
|
rs61752446
|
0.01916
|
NM_005120.3(MED12):c.6045-24C>T
|
rs140083803
|
0.01192
|
NM_005120.3(MED12):c.5535C>T (p.Asn1845=)
|
rs34784349
|
0.01002
|
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser)
|
rs147354926
|
0.00685
|
NM_005120.3(MED12):c.2886C>T (p.Ser962=)
|
rs34761462
|
0.00604
|
NM_005120.3(MED12):c.1248+15T>C
|
rs187377817
|
0.00307
|
NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_005120.3(MED12):c.5748+16G>T
|
rs199760183
|
0.00122
|
NM_005120.3(MED12):c.5400+6C>T
|
rs192656109
|
0.00121
|
NM_005120.3(MED12):c.2981+13G>A
|
rs73214870
|
0.00105
|
NM_005120.3(MED12):c.3204C>T (p.Pro1068=)
|
rs201807437
|
0.00104
|
NM_005120.3(MED12):c.438A>G (p.Leu146=)
|
rs35068602
|
0.00100
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_005120.3(MED12):c.381G>A (p.Thr127=)
|
rs202125318
|
0.00039
|
NM_005120.3(MED12):c.5400+7G>A
|
rs201254124
|
0.00038
|
NM_005120.3(MED12):c.397-12A>T
|
rs192515277
|
0.00036
|
NM_005120.3(MED12):c.4528-19T>C
|
rs370859385
|
0.00026
|
NM_005120.3(MED12):c.736-14C>G
|
rs373707149
|
0.00025
|
NM_005120.3(MED12):c.934G>C (p.Val312Leu)
|
rs377403264
|
0.00020
|
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
NM_005120.3(MED12):c.1101+18C>T
|
rs200510424
|
0.00013
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
NM_005120.3(MED12):c.3843C>T (p.Tyr1281=)
|
rs369268877
|
0.00010
|
NM_005120.3(MED12):c.6201A>G (p.Gln2067=)
|
rs375793297
|
0.00010
|
NM_005120.3(MED12):c.5103T>C (p.Ser1701=)
|
rs762801267
|
0.00009
|
NM_005120.3(MED12):c.-47A>T
|
rs767078113
|
0.00008
|
NM_005120.3(MED12):c.27C>T (p.Tyr9=)
|
rs376743527
|
0.00008
|
NM_005120.3(MED12):c.1167G>A (p.Lys389=)
|
rs374324656
|
0.00007
|
NM_005120.3(MED12):c.5593A>G (p.Met1865Val)
|
rs587778438
|
0.00007
|
NM_005120.3(MED12):c.6409-14C>A
|
rs374791085
|
0.00007
|
NM_005120.3(MED12):c.-28G>T
|
rs373552360
|
0.00006
|
NM_005120.3(MED12):c.2220C>T (p.Ile740=)
|
rs370195616
|
0.00006
|
NM_005120.3(MED12):c.568A>G (p.Ile190Val)
|
rs374780236
|
0.00006
|
NM_005120.3(MED12):c.6072A>T (p.Thr2024=)
|
rs200692655
|
0.00005
|
NM_005120.3(MED12):c.6279A>G (p.Gln2093=)
|
rs1050062166
|
0.00005
|
NM_005120.3(MED12):c.1975-5C>T
|
rs200891932
|
0.00004
|
NM_005120.3(MED12):c.3691+4C>T
|
rs373381746
|
0.00004
|
NM_005120.3(MED12):c.4863+15C>T
|
rs778076528
|
0.00004
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
NM_005120.3(MED12):c.2748C>A (p.Gly916=)
|
rs768686458
|
0.00003
|
NM_005120.3(MED12):c.4416-48T>C
|
rs12849277
|
0.00003
|
NM_005120.3(MED12):c.129A>G (p.Gln43=)
|
rs780634712
|
0.00002
|
NM_005120.3(MED12):c.1807C>T (p.Leu603=)
|
rs797045696
|
0.00002
|
NM_005120.3(MED12):c.204+7C>T
|
rs776275934
|
0.00002
|
NM_005120.3(MED12):c.3516C>G (p.Thr1172=)
|
rs1057521581
|
0.00002
|
NM_005120.3(MED12):c.4299T>C (p.Ala1433=)
|
rs763359998
|
0.00002
|
NM_005120.3(MED12):c.5088G>A (p.Pro1696=)
|
rs202167558
|
0.00002
|
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser)
|
rs867576281
|
0.00002
|
NM_005120.3(MED12):c.5510G>C (p.Gly1837Ala)
|
rs200328506
|
0.00002
|
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser)
|
rs2092336419
|
0.00002
|
NM_005120.3(MED12):c.735+15A>G
|
rs202206536
|
0.00002
|
NM_005120.3(MED12):c.736-4A>G
|
rs371311763
|
0.00002
|
NM_005120.3(MED12):c.1745-19C>T
|
rs1057524262
|
0.00001
|
NM_005120.3(MED12):c.2128G>A (p.Val710Met)
|
rs797045697
|
0.00001
|
NM_005120.3(MED12):c.3354+26A>G
|
rs749625903
|
0.00001
|
NM_005120.3(MED12):c.4047+14G>A
|
rs774488297
|
0.00001
|
NM_005120.3(MED12):c.4470A>G (p.Lys1490=)
|
rs766138859
|
0.00001
|
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)
|
rs376179450
|
0.00001
|
NM_005120.3(MED12):c.5418G>A (p.Pro1806=)
|
rs770957462
|
0.00001
|
NM_005120.3(MED12):c.6017A>C (p.Tyr2006Ser)
|
rs769232520
|
0.00001
|
NM_005120.3(MED12):c.6044+16G>C
|
rs367904425
|
0.00001
|
NM_005120.3(MED12):c.6267+20T>C
|
rs1032542640
|
0.00001
|
GRCh37/hg19 Xq13.1(chrX:70344802-70345036)
|
|
|
NM_005120.3(MED12):c.100-19C>T
|
rs930154299
|
|
NM_005120.3(MED12):c.1101+8_1101+9insCC
|
rs1214824818
|
|
NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC
|
|
|
NM_005120.3(MED12):c.111G>A (p.Thr37=)
|
rs1057522480
|
|
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr)
|
rs950787066
|
|
NM_005120.3(MED12):c.204+12_204+13del
|
rs200301833
|
|
NM_005120.3(MED12):c.2056-20C>T
|
rs1057521831
|
|
NM_005120.3(MED12):c.2274T>C (p.Phe758=)
|
rs779918145
|
|
NM_005120.3(MED12):c.2294A>T (p.Asp765Val)
|
rs1243443016
|
|
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys)
|
rs2147793341
|
|
NM_005120.3(MED12):c.2423-6C>T
|
|
|
NM_005120.3(MED12):c.2850-7C>G
|
rs1556336208
|
|
NM_005120.3(MED12):c.2941T>A (p.Ser981Thr)
|
rs2147799502
|
|
NM_005120.3(MED12):c.3231G>T (p.Leu1077=)
|
rs1556336518
|
|
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.3577+17T>G
|
rs1057523979
|
|
NM_005120.3(MED12):c.3577+9C>A
|
rs1556336775
|
|
NM_005120.3(MED12):c.3801C>T (p.Asn1267=)
|
rs1057520418
|
|
NM_005120.3(MED12):c.3989T>G (p.Leu1330Arg)
|
rs797045699
|
|
NM_005120.3(MED12):c.4120-12C>T
|
rs1556337617
|
|
NM_005120.3(MED12):c.4254-5T>A
|
rs2092319756
|
|
NM_005120.3(MED12):c.4416-43_4416-14del
|
rs1556337864
|
|
NM_005120.3(MED12):c.4416-77CTCTT[11]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[6]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[7]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[8]
|
rs56658066
|
|
NM_005120.3(MED12):c.5026-17T>C
|
rs1556338729
|
|
NM_005120.3(MED12):c.5041A>G (p.Thr1681Ala)
|
rs2147825903
|
|
NM_005120.3(MED12):c.5266C>T (p.Leu1756=)
|
rs1556338815
|
|
NM_005120.3(MED12):c.553+12C>G
|
rs1556334127
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6177ACAGCA[3] (p.Gln2075_Gln2076dup)
|
rs753370104
|
|
NM_005120.3(MED12):c.6186GCA[6] (p.Gln2076dup)
|
rs754533796
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6208CAG[9] (p.Gln2075_Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup)
|
rs786200971
|
|
NM_005120.3(MED12):c.6279ACAGCA[3] (p.Gln2114_Gln2115dup)
|
rs761195801
|
|
NM_005120.3(MED12):c.6288GCA[10] (p.Gln2113_Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6288GCA[8] (p.Gln2115dup)
|
rs766775649
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
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.6408+16C>T
|
rs1057522248
|
|
NM_005120.3(MED12):c.708C>G (p.Thr236=)
|
rs34668206
|
|