NM_005120.3(MED12):c.384A>G (p.Gln128=)
|
rs201566660
|
0.00225
|
NM_005120.3(MED12):c.3699G>A (p.Ala1233=)
|
rs184162709
|
0.00133
|
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val)
|
rs200663107
|
0.00092
|
NM_005120.3(MED12):c.2613G>A (p.Gln871=)
|
rs372344160
|
0.00047
|
NM_005120.3(MED12):c.653C>T (p.Thr218Met)
|
rs369083173
|
0.00043
|
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.4111C>T (p.Pro1371Ser)
|
rs587778437
|
0.00018
|
NM_005120.3(MED12):c.4179A>C (p.Ser1393=)
|
rs376058351
|
0.00015
|
NM_005120.3(MED12):c.3918C>T (p.Asp1306=)
|
rs372389957
|
0.00012
|
NM_005120.3(MED12):c.4488C>T (p.Arg1496=)
|
rs531754497
|
0.00012
|
NM_005120.3(MED12):c.4115A>G (p.Asn1372Ser)
|
rs202009066
|
0.00009
|
NM_005120.3(MED12):c.5267T>C (p.Leu1756Pro)
|
rs201843482
|
0.00009
|
NM_005120.3(MED12):c.4425A>G (p.Leu1475=)
|
rs370211858
|
0.00008
|
NM_005120.3(MED12):c.4359G>A (p.Lys1453=)
|
rs766087487
|
0.00007
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_005120.3(MED12):c.5490A>C (p.Thr1830=)
|
rs762466624
|
0.00005
|
NM_005120.3(MED12):c.183C>T (p.Asn61=)
|
rs770411750
|
0.00003
|
NM_005120.3(MED12):c.3381G>T (p.Ser1127=)
|
rs369946933
|
0.00003
|
NM_005120.3(MED12):c.6291G>A (p.Gln2097=)
|
rs756285149
|
0.00003
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.736-4A>G
|
rs371311763
|
0.00002
|
NM_005120.3(MED12):c.1098A>G (p.Leu366=)
|
rs1325162892
|
0.00001
|
NM_005120.3(MED12):c.2351G>A (p.Arg784His)
|
rs777238737
|
0.00001
|
NM_005120.3(MED12):c.3797G>A (p.Arg1266His)
|
rs587780391
|
0.00001
|
NM_005120.3(MED12):c.4635C>G (p.Asp1545Glu)
|
rs151316557
|
0.00001
|
NM_005120.3(MED12):c.4974C>T (p.Ile1658=)
|
rs376179450
|
0.00001
|
NM_005120.3(MED12):c.5584C>T (p.Arg1862Cys)
|
rs200279192
|
0.00001
|
NM_005120.3(MED12):c.6045-5T>C
|
rs1294743596
|
0.00001
|
NM_005120.3(MED12):c.707C>T (p.Thr236Ile)
|
rs1278481602
|
0.00001
|
NM_005120.3(MED12):c.1272C>T (p.Ile424=)
|
|
|
NM_005120.3(MED12):c.2123AGG[1] (p.Glu709del)
|
rs1261680398
|
|
NM_005120.3(MED12):c.2125G>C (p.Glu709Gln)
|
|
|
NM_005120.3(MED12):c.2372-8C>A
|
|
|
NM_005120.3(MED12):c.2529G>C (p.Gln843His)
|
rs2147795833
|
|
NM_005120.3(MED12):c.2541+1G>A
|
|
|
NM_005120.3(MED12):c.2736G>A (p.Ser912=)
|
|
|
NM_005120.3(MED12):c.2894C>T (p.Ser965Phe)
|
rs2147799414
|
|
NM_005120.3(MED12):c.3009C>G (p.Thr1003=)
|
|
|
NM_005120.3(MED12):c.3260C>T (p.Ser1087Leu)
|
|
|
NM_005120.3(MED12):c.3284T>C (p.Val1095Ala)
|
rs2147802401
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3691+9G>A
|
|
|
NM_005120.3(MED12):c.3691+9dup
|
rs966516434
|
|
NM_005120.3(MED12):c.3734G>A (p.Gly1245Glu)
|
|
|
NM_005120.3(MED12):c.4416-42_4416-9del
|
|
|
NM_005120.3(MED12):c.4416-77CTCTT[10]
|
|
|
NM_005120.3(MED12):c.4416-77CTCTT[8]
|
rs56658066
|
|
NM_005120.3(MED12):c.4416-77CTCTT[9]
|
|
|
NM_005120.3(MED12):c.4535A>G (p.Asn1512Ser)
|
|
|
NM_005120.3(MED12):c.4728-9C>T
|
|
|
NM_005120.3(MED12):c.5691_5692del (p.Tyr1898fs)
|
rs2092335044
|
|
NM_005120.3(MED12):c.5753G>A (p.Ser1918Asn)
|
|
|
NM_005120.3(MED12):c.579C>T (p.Tyr193=)
|
|
|
NM_005120.3(MED12):c.5887A>G (p.Met1963Val)
|
|
|
NM_005120.3(MED12):c.5C>T (p.Ala2Val)
|
|
|
NM_005120.3(MED12):c.6042A>G (p.Gln2014=)
|
|
|
NM_005120.3(MED12):c.6150GCA[4] (p.Gln2075_Gln2076del)
|
rs769857818
|
|
NM_005120.3(MED12):c.6204G>A (p.Gln2068=)
|
rs1283568825
|
|
NM_005120.3(MED12):c.6208CAG[8] (p.Gln2076dup)
|
rs757160341
|
|
NM_005120.3(MED12):c.6241CAG[5] (p.Gln2086del)
|
rs786200971
|
|
NM_005120.3(MED12):c.6288GCA[6] (p.Gln2115del)
|
rs766775649
|
|
NM_005120.3(MED12):c.629C>T (p.Ala210Val)
|
|
|
NM_005120.3(MED12):c.6321_6335del (p.Gln2111_Gln2115del)
|
rs727503869
|
|
NM_005120.3(MED12):c.6384A>G (p.Gln2128=)
|
rs1569482811
|
|
NM_005120.3(MED12):c.6384_6389dup (p.Gln2132_Ser2133insProGln)
|
|
|
NM_005120.3(MED12):c.78T>C (p.Pro26=)
|
|
|