NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu)
|
rs138030591
|
0.00021
|
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)
|
rs374549966
|
0.00015
|
NM_012330.4(KAT6B):c.2272A>G (p.Met758Val)
|
rs766894762
|
0.00014
|
NM_012330.4(KAT6B):c.1282A>C (p.Asn428His)
|
rs368259149
|
0.00010
|
NM_012330.4(KAT6B):c.3410G>A (p.Arg1137His)
|
rs143090869
|
0.00010
|
NM_012330.4(KAT6B):c.5368G>A (p.Ala1790Thr)
|
rs766117254
|
0.00010
|
NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu)
|
rs778899637
|
0.00007
|
NM_005120.3(MED12):c.6097A>G (p.Met2033Val)
|
rs372606012
|
0.00006
|
NM_012330.4(KAT6B):c.1714C>T (p.Arg572Cys)
|
rs766989154
|
0.00006
|
NM_012330.4(KAT6B):c.4807G>A (p.Val1603Ile)
|
rs142688976
|
0.00006
|
NM_012330.4(KAT6B):c.6187A>C (p.Lys2063Gln)
|
rs773473193
|
0.00006
|
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln)
|
rs1014954135
|
0.00004
|
NM_005120.3(MED12):c.2849+14C>T
|
rs398124196
|
0.00003
|
NM_012330.4(KAT6B):c.1439C>T (p.Ala480Val)
|
rs749428929
|
0.00003
|
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser)
|
rs764565963
|
0.00003
|
NM_012330.4(KAT6B):c.4879G>A (p.Ala1627Thr)
|
rs199792793
|
0.00003
|
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp)
|
rs370398832
|
0.00003
|
NM_005120.3(MED12):c.1264C>T (p.Arg422Trp)
|
rs368913305
|
0.00002
|
NM_005120.3(MED12):c.439G>A (p.Ala147Thr)
|
rs748453083
|
0.00002
|
NM_005120.3(MED12):c.6076A>G (p.Met2026Val)
|
rs1294140756
|
0.00002
|
NM_005120.3(MED12):c.6267+166G>A
|
rs1247198443
|
0.00002
|
NM_012330.4(KAT6B):c.4834C>T (p.Arg1612Cys)
|
rs140992439
|
0.00002
|
NM_005120.3(MED12):c.1039A>G (p.Ser347Gly)
|
rs752300879
|
0.00001
|
NM_005120.3(MED12):c.1996A>G (p.Met666Val)
|
rs1401003961
|
0.00001
|
NM_005120.3(MED12):c.3210-27C>T
|
rs752463122
|
0.00001
|
NM_005120.3(MED12):c.4159A>G (p.Ile1387Val)
|
rs1366165823
|
0.00001
|
NM_012330.4(KAT6B):c.1189A>C (p.Ser397Arg)
|
rs1842093971
|
0.00001
|
NM_012330.4(KAT6B):c.1667A>T (p.Gln556Leu)
|
rs965354059
|
0.00001
|
NM_012330.4(KAT6B):c.1685A>G (p.His562Arg)
|
rs1019373559
|
0.00001
|
NM_012330.4(KAT6B):c.1717C>T (p.Arg573Cys)
|
rs756038238
|
0.00001
|
NM_012330.4(KAT6B):c.1865G>A (p.Arg622Gln)
|
rs773318837
|
0.00001
|
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg)
|
rs371018598
|
0.00001
|
NM_012330.4(KAT6B):c.2116-9A>G
|
rs747646395
|
0.00001
|
NM_012330.4(KAT6B):c.2879G>A (p.Arg960Gln)
|
rs753695521
|
0.00001
|
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys)
|
rs140989004
|
0.00001
|
NM_012330.4(KAT6B):c.4046A>G (p.Lys1349Arg)
|
rs377300582
|
0.00001
|
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn)
|
rs545973592
|
0.00001
|
NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu)
|
rs1037774698
|
0.00001
|
NM_012330.4(KAT6B):c.6014G>A (p.Gly2005Asp)
|
rs141200092
|
0.00001
|
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys)
|
rs749252195
|
0.00001
|
NM_005120.3(MED12):c.1102-6T>C
|
|
|
NM_005120.3(MED12):c.2023C>T (p.Leu675Phe)
|
|
|
NM_005120.3(MED12):c.2545T>C (p.Ser849Pro)
|
rs1135401775
|
|
NM_005120.3(MED12):c.272G>T (p.Arg91Leu)
|
rs1057524478
|
|
NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu)
|
rs2092313149
|
|
NM_005120.3(MED12):c.4022G>A (p.Arg1341Gln)
|
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
NM_005120.3(MED12):c.5017AAG[1] (p.Lys1674del)
|
|
|
NM_005120.3(MED12):c.5165G>A (p.Arg1722Gln)
|
|
|
NM_005120.3(MED12):c.5310C>A (p.Asp1770Glu)
|
|
|
NM_005120.3(MED12):c.6017A>G (p.Tyr2006Cys)
|
|
|
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del)
|
rs767827315
|
|
NM_005120.3(MED12):c.628G>C (p.Ala210Pro)
|
rs1379201163
|
|
NM_005120.3(MED12):c.6472C>A (p.Leu2158Ile)
|
rs2147844978
|
|
NM_005120.3(MED12):c.823C>G (p.Leu275Val)
|
rs2147778826
|
|
NM_012330.4(KAT6B):c.1278_1283del (p.Lys426_Val427del)
|
rs760375622
|
|
NM_012330.4(KAT6B):c.1662G>A (p.Gln554=)
|
rs1315521603
|
|
NM_012330.4(KAT6B):c.2186A>G (p.Glu729Gly)
|
|
|
NM_012330.4(KAT6B):c.2373+6C>A
|
rs192506542
|
|
NM_012330.4(KAT6B):c.2839A>G (p.Met947Val)
|
rs1845340492
|
|
NM_012330.4(KAT6B):c.3210AGA[2] (p.Glu1076del)
|
rs765976563
|
|
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del)
|
rs569172957
|
|
NM_012330.4(KAT6B):c.3289GAA[10] (p.Glu1103_Glu1104dup)
|
rs71929101
|
|
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met)
|
rs755451488
|
|
NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)
|
|
|
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys)
|
rs2132074046
|
|
NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp)
|
rs771449717
|
|
NM_012330.4(KAT6B):c.4065GGA[4] (p.Glu1368del)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4230GGA[2] (p.Glu1414del)
|
rs745314195
|
|
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile)
|
rs1054836015
|
|
NM_012330.4(KAT6B):c.5488C>T (p.His1830Tyr)
|
rs752572188
|
|
NM_012330.4(KAT6B):c.5609G>C (p.Gly1870Ala)
|
|
|
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala)
|
rs2132075785
|
|
NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys)
|
rs745470061
|
|