NM_003718.5(CDK13):c.2600+276A>G
|
rs798853
|
0.96775
|
NM_003718.5(CDK13):c.2898-254A>G
|
rs798856
|
0.66175
|
NM_003718.5(CDK13):c.2354-235A>T
|
rs1522878
|
0.56325
|
NM_003718.5(CDK13):c.2543+217A>G
|
rs9639818
|
0.54766
|
NM_003718.5(CDK13):c.1871+215G>A
|
rs1257699
|
0.44426
|
NM_003718.5(CDK13):c.2183-289T>G
|
rs10253590
|
0.26788
|
NM_003718.5(CDK13):c.1211+222G>A
|
rs9655407
|
0.26766
|
NM_003718.5(CDK13):c.2543+141C>T
|
rs9639817
|
0.26748
|
NM_003718.5(CDK13):c.3688+208G>A
|
rs2077124
|
0.26686
|
NM_003718.5(CDK13):c.2781-240A>G
|
rs10232399
|
0.19785
|
NM_003718.5(CDK13):c.2043-253T>C
|
rs10241835
|
0.15426
|
NM_003718.5(CDK13):c.*99A>G
|
rs17538328
|
0.11149
|
NM_003718.5(CDK13):c.1498A>G (p.Thr500Ala)
|
rs3735135
|
0.08199
|
NM_003718.5(CDK13):c.3072G>A (p.Lys1024=)
|
rs2302341
|
0.08147
|
NM_003718.5(CDK13):c.3236-217A>G
|
rs12669872
|
0.08136
|
NM_003718.5(CDK13):c.3689-166A>G
|
rs2015842
|
0.08040
|
NM_003718.5(CDK13):c.3939T>C (p.Asp1313=)
|
rs17496805
|
0.03439
|
NM_003718.5(CDK13):c.2043-210A>C
|
rs17496331
|
0.03399
|
NM_003718.5(CDK13):c.2353+172G>A
|
rs17496388
|
0.02682
|
NM_003718.5(CDK13):c.2182+146A>G
|
rs79353776
|
0.02104
|
NM_003718.5(CDK13):c.3508G>A (p.Val1170Met)
|
rs3204309
|
0.00488
|
NM_003718.5(CDK13):c.2009C>G (p.Thr670Arg)
|
rs34775357
|
0.00460
|
NM_003718.5(CDK13):c.2124C>T (p.Ile708=)
|
rs142726395
|
0.00360
|
NM_003718.5(CDK13):c.1066C>G (p.Pro356Ala)
|
rs17537669
|
0.00258
|
NM_003718.5(CDK13):c.2985C>T (p.Cys995=)
|
rs56028037
|
0.00218
|
NM_003718.5(CDK13):c.642C>T (p.Arg214=)
|
rs143271914
|
0.00186
|
NM_003718.5(CDK13):c.891C>T (p.Pro297=)
|
rs374612677
|
0.00168
|
NM_003718.5(CDK13):c.2421T>A (p.Val807=)
|
rs146697164
|
0.00158
|
NM_003718.5(CDK13):c.3184G>A (p.Val1062Met)
|
rs17496712
|
0.00147
|
NM_003718.5(CDK13):c.1207C>T (p.Leu403Phe)
|
rs3735137
|
0.00138
|
NM_003718.5(CDK13):c.1260A>G (p.Ser420=)
|
rs139746338
|
0.00135
|
NM_003718.5(CDK13):c.4050T>A (p.Val1350=)
|
rs145731229
|
0.00117
|
NM_003718.5(CDK13):c.2180C>T (p.Thr727Ile)
|
rs140848307
|
0.00107
|
NM_003718.5(CDK13):c.1671C>T (p.Ala557=)
|
rs139716678
|
0.00074
|
NM_003718.5(CDK13):c.115C>T (p.Leu39=)
|
rs756090286
|
0.00056
|
NM_003718.5(CDK13):c.1833T>G (p.Pro611=)
|
rs55813129
|
0.00052
|
NM_003718.5(CDK13):c.3168C>A (p.Thr1056=)
|
rs143012815
|
0.00048
|
NM_003718.5(CDK13):c.3185T>C (p.Val1062Ala)
|
rs140002404
|
0.00040
|
NM_003718.5(CDK13):c.1459G>T (p.Ala487Ser)
|
rs34910103
|
0.00034
|
NM_003718.5(CDK13):c.3645A>G (p.Ser1215=)
|
rs143180759
|
0.00034
|
NM_003718.5(CDK13):c.2027G>A (p.Ser676Asn)
|
rs139935261
|
0.00028
|
NM_003718.5(CDK13):c.3401G>T (p.Gly1134Val)
|
rs188313505
|
0.00026
|
NM_003718.5(CDK13):c.4266C>T (p.Asp1422=)
|
rs139981763
|
0.00024
|
NM_003718.5(CDK13):c.3955G>A (p.Gly1319Ser)
|
rs147108931
|
0.00018
|
NM_003718.5(CDK13):c.498G>A (p.Thr166=)
|
rs998375490
|
0.00016
|
NM_003718.5(CDK13):c.1347G>T (p.Leu449=)
|
rs150303277
|
0.00014
|
NM_003718.5(CDK13):c.1242G>A (p.Pro414=)
|
rs202080779
|
0.00013
|
NM_003718.5(CDK13):c.1870A>G (p.Ser624Gly)
|
rs17496275
|
0.00009
|
NM_003718.5(CDK13):c.2715C>T (p.Gly905=)
|
rs17496605
|
0.00006
|
NM_003718.5(CDK13):c.2897+9G>T
|
rs771454957
|
0.00006
|
NM_003718.5(CDK13):c.3094G>A (p.Gly1032Ser)
|
rs200412973
|
0.00006
|
NM_003718.5(CDK13):c.1462A>G (p.Lys488Glu)
|
rs780866053
|
0.00005
|
NM_003718.5(CDK13):c.4097G>A (p.Arg1366His)
|
rs3801237
|
0.00005
|
NM_003718.5(CDK13):c.652C>A (p.Arg218=)
|
rs946488812
|
0.00004
|
NM_003718.5(CDK13):c.1401C>T (p.Ala467=)
|
rs137937704
|
0.00003
|
NM_003718.5(CDK13):c.1499C>T (p.Thr500Met)
|
rs922943045
|
0.00003
|
NM_003718.5(CDK13):c.3271G>A (p.Glu1091Lys)
|
rs182845040
|
0.00003
|
NM_003718.5(CDK13):c.552C>T (p.Ser184=)
|
rs1293078589
|
0.00003
|
NM_003718.5(CDK13):c.858C>T (p.Ser286=)
|
rs968654880
|
0.00003
|
NM_003718.5(CDK13):c.1928G>A (p.Arg643Gln)
|
rs1273107384
|
0.00002
|
NM_003718.5(CDK13):c.509C>T (p.Ala170Val)
|
rs1029840854
|
0.00002
|
NM_003718.5(CDK13):c.796A>G (p.Ser266Gly)
|
rs1469921868
|
0.00002
|
NM_003718.5(CDK13):c.1149C>T (p.Ser383=)
|
rs575289888
|
0.00001
|
NM_003718.5(CDK13):c.1413G>A (p.Ala471=)
|
rs779234602
|
0.00001
|
NM_003718.5(CDK13):c.1479T>C (p.Ser493=)
|
rs1562713871
|
0.00001
|
NM_003718.5(CDK13):c.2171A>G (p.Asp724Gly)
|
rs757671907
|
0.00001
|
NM_003718.5(CDK13):c.2995C>T (p.Arg999Ter)
|
rs1175530571
|
0.00001
|
NM_003718.5(CDK13):c.3737C>T (p.Thr1246Met)
|
rs761120542
|
0.00001
|
NM_003718.5(CDK13):c.536G>A (p.Gly179Glu)
|
rs1341663252
|
0.00001
|
NM_003718.5(CDK13):c.792A>G (p.Thr264=)
|
rs898600607
|
0.00001
|
GRCh37/hg19 7p14.1(chr7:40025231-40097935)x1
|
|
|
GRCh37/hg19 7p14.1(chr7:40026937-40170245)x3
|
|
|
NC_000007.13:g.(?_39990241)_(39991471_?)dup
|
|
|
NC_000007.13:g.(?_39990241)_(40027877_?)dup
|
|
|
NC_000007.13:g.(?_39990241)_(40041650_?)dup
|
|
|
NC_000007.13:g.(?_40027178)_(40134579_?)dup
|
|
|
NC_000007.13:g.(?_40102405)_(40134579_?)dup
|
|
|
NM_003718.5(CDK13):c.1002C>A (p.Ser334Arg)
|
|
|
NM_003718.5(CDK13):c.100C>T (p.Pro34Ser)
|
|
|
NM_003718.5(CDK13):c.1011C>T (p.Ser337=)
|
|
|
NM_003718.5(CDK13):c.1012_1014del (p.Arg338del)
|
|
|
NM_003718.5(CDK13):c.1013G>T (p.Arg338Leu)
|
|
|
NM_003718.5(CDK13):c.1014C>T (p.Arg338=)
|
|
|
NM_003718.5(CDK13):c.1019C>T (p.Ser340Phe)
|
rs13622
|
|
NM_003718.5(CDK13):c.1021C>T (p.Pro341Ser)
|
|
|
NM_003718.5(CDK13):c.1021_1028dup (p.Ala344fs)
|
rs2116069714
|
|
NM_003718.5(CDK13):c.1022C>G (p.Pro341Arg)
|
|
|
NM_003718.5(CDK13):c.1023C>T (p.Pro341=)
|
|
|
NM_003718.5(CDK13):c.1025G>A (p.Ser342Asn)
|
|
|
NM_003718.5(CDK13):c.1027C>T (p.Pro343Ser)
|
|
|
NM_003718.5(CDK13):c.1028C>T (p.Pro343Leu)
|
|
|
NM_003718.5(CDK13):c.1040G>A (p.Gly347Asp)
|
rs2116070194
|
|
NM_003718.5(CDK13):c.1040del (p.Gly347fs)
|
|
|
NM_003718.5(CDK13):c.1041C>T (p.Gly347=)
|
|
|
NM_003718.5(CDK13):c.1046G>A (p.Ser349Asn)
|
|
|
NM_003718.5(CDK13):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_003718.5(CDK13):c.1060C>A (p.Arg354=)
|
|
|
NM_003718.5(CDK13):c.1062G>C (p.Arg354=)
|
|
|
NM_003718.5(CDK13):c.1063C>T (p.Leu355=)
|
|
|
NM_003718.5(CDK13):c.1064T>A (p.Leu355Gln)
|
|
|
NM_003718.5(CDK13):c.1069C>T (p.Arg357Cys)
|
|
|
NM_003718.5(CDK13):c.1082C>T (p.Pro361Leu)
|
|
|
NM_003718.5(CDK13):c.1085A>G (p.Tyr362Cys)
|
|
|
NM_003718.5(CDK13):c.1125C>G (p.Ser375=)
|
|
|
NM_003718.5(CDK13):c.1128C>T (p.Tyr376=)
|
rs1451495497
|
|
NM_003718.5(CDK13):c.1132C>T (p.Arg378Trp)
|
|
|
NM_003718.5(CDK13):c.1143C>T (p.Asp381=)
|
|
|
NM_003718.5(CDK13):c.1152del (p.Ser385fs)
|
rs1554317470
|
|
NM_003718.5(CDK13):c.1153A>C (p.Ser385Arg)
|
|
|
NM_003718.5(CDK13):c.1156C>T (p.Pro386Ser)
|
|
|
NM_003718.5(CDK13):c.1157C>G (p.Pro386Arg)
|
|
|
NM_003718.5(CDK13):c.1157C>T (p.Pro386Leu)
|
|
|
NM_003718.5(CDK13):c.1158C>T (p.Pro386=)
|
|
|
NM_003718.5(CDK13):c.1161C>T (p.Tyr387=)
|
|
|
NM_003718.5(CDK13):c.1163G>A (p.Ser388Asn)
|
|
|
NM_003718.5(CDK13):c.1164C>T (p.Ser388=)
|
|
|
NM_003718.5(CDK13):c.1169G>A (p.Ser390Asn)
|
|
|
NM_003718.5(CDK13):c.1173C>T (p.Ser391=)
|
|
|
NM_003718.5(CDK13):c.1187G>T (p.Arg396Leu)
|
|
|
NM_003718.5(CDK13):c.1187del (p.Arg396fs)
|
rs1787228771
|
|
NM_003718.5(CDK13):c.118C>T (p.Leu40=)
|
|
|
NM_003718.5(CDK13):c.1211+12C>G
|
|
|
NM_003718.5(CDK13):c.1211+12C>T
|
|
|
NM_003718.5(CDK13):c.1211+16C>G
|
|
|
NM_003718.5(CDK13):c.1211+16C>T
|
|
|
NM_003718.5(CDK13):c.1211+19C>T
|
|
|
NM_003718.5(CDK13):c.1211+20C>A
|
|
|
NM_003718.5(CDK13):c.1211+20C>T
|
|
|
NM_003718.5(CDK13):c.1212-12A>T
|
|
|
NM_003718.5(CDK13):c.1212-5A>G
|
|
|
NM_003718.5(CDK13):c.1212-9T>G
|
|
|
NM_003718.5(CDK13):c.1212A>G (p.Arg404=)
|
|
|
NM_003718.5(CDK13):c.1213C>T (p.Arg405Trp)
|
|
|
NM_003718.5(CDK13):c.1214G>A (p.Arg405Gln)
|
|
|
NM_003718.5(CDK13):c.1226C>A (p.Ser409Tyr)
|
|
|
NM_003718.5(CDK13):c.122T>G (p.Leu41Trp)
|
|
|
NM_003718.5(CDK13):c.1241C>T (p.Pro414Leu)
|
|
|
NM_003718.5(CDK13):c.1267C>T (p.Arg423Cys)
|
|
|
NM_003718.5(CDK13):c.129C>T (p.Leu43=)
|
|
|
NM_003718.5(CDK13):c.1300C>T (p.Arg434Cys)
|
|
|
NM_003718.5(CDK13):c.1301G>A (p.Arg434His)
|
|
|
NM_003718.5(CDK13):c.1304A>G (p.His435Arg)
|
|
|
NM_003718.5(CDK13):c.1308T>C (p.Ser436=)
|
|
|
NM_003718.5(CDK13):c.1328T>C (p.Leu443Pro)
|
|
|
NM_003718.5(CDK13):c.132G>A (p.Leu44=)
|
|
|
NM_003718.5(CDK13):c.1330A>G (p.Thr444Ala)
|
|
|
NM_003718.5(CDK13):c.133C>A (p.Gln45Lys)
|
|
|
NM_003718.5(CDK13):c.1349C>T (p.Ala450Val)
|
|
|
NM_003718.5(CDK13):c.135_149dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)
|
|
|
NM_003718.5(CDK13):c.1375G>T (p.Ala459Ser)
|
|
|
NM_003718.5(CDK13):c.1386A>C (p.Ala462=)
|
|
|
NM_003718.5(CDK13):c.1389_1424del (p.Ala465_Ala476del)
|
rs2116264137
|
|
NM_003718.5(CDK13):c.1394C>G (p.Ala465Gly)
|
|
|
NM_003718.5(CDK13):c.1399G>A (p.Ala467Thr)
|
|
|
NM_003718.5(CDK13):c.13T>C (p.Ser5Pro)
|
|
|
NM_003718.5(CDK13):c.1402G>A (p.Ala468Thr)
|
|
|
NM_003718.5(CDK13):c.1403C>T (p.Ala468Val)
|
|
|
NM_003718.5(CDK13):c.1408G>A (p.Ala470Thr)
|
|
|
NM_003718.5(CDK13):c.140_154dup (p.Pro51_Pro52insGlnLeuLeuGlnPro)
|
|
|
NM_003718.5(CDK13):c.1410A>C (p.Ala470=)
|
|
|
NM_003718.5(CDK13):c.1412C>T (p.Ala471Val)
|
|
|
NM_003718.5(CDK13):c.1421C>T (p.Ala474Val)
|
|
|
NM_003718.5(CDK13):c.1426G>A (p.Ala476Thr)
|
|
|
NM_003718.5(CDK13):c.1427C>T (p.Ala476Val)
|
|
|
NM_003718.5(CDK13):c.142C>T (p.Leu48Phe)
|
|
|
NM_003718.5(CDK13):c.1440_1451dup (p.Ala484_Lys485insGluAlaAlaAla)
|
|
|
NM_003718.5(CDK13):c.1442A>C (p.Glu481Ala)
|
|
|
NM_003718.5(CDK13):c.1444G>A (p.Ala482Thr)
|
|
|
NM_003718.5(CDK13):c.1449_1460dup (p.Ala487_Lys488insAlaLysAlaAla)
|
|
|
NM_003718.5(CDK13):c.144C>T (p.Leu48=)
|
|
|
NM_003718.5(CDK13):c.1465G>A (p.Ala489Thr)
|
|
|
NM_003718.5(CDK13):c.1466C>T (p.Ala489Val)
|
|
|
NM_003718.5(CDK13):c.146T>C (p.Leu49Pro)
|
rs1378858299
|
|
NM_003718.5(CDK13):c.1478C>A (p.Ser493Tyr)
|
|
|
NM_003718.5(CDK13):c.1480A>C (p.Thr494Pro)
|
|
|
NM_003718.5(CDK13):c.1480A>G (p.Thr494Ala)
|
|
|
NM_003718.5(CDK13):c.1482A>G (p.Thr494=)
|
|
|
NM_003718.5(CDK13):c.149A>C (p.Gln50Pro)
|
|
|
NM_003718.5(CDK13):c.14C>T (p.Ser5Leu)
|
|
|
NM_003718.5(CDK13):c.1509T>A (p.Ser503Arg)
|
|
|
NM_003718.5(CDK13):c.1511C>T (p.Ala504Val)
|
|
|
NM_003718.5(CDK13):c.1512C>T (p.Ala504=)
|
|
|
NM_003718.5(CDK13):c.1513A>G (p.Ser505Gly)
|
|
|
NM_003718.5(CDK13):c.1514G>A (p.Ser505Asn)
|
|
|
NM_003718.5(CDK13):c.1525A>G (p.Thr509Ala)
|
|
|
NM_003718.5(CDK13):c.1526C>G (p.Thr509Arg)
|
rs1403159563
|
|
NM_003718.5(CDK13):c.1532A>T (p.His511Leu)
|
rs2116266253
|
|
NM_003718.5(CDK13):c.1540_1548del (p.Asp514_Lys516del)
|
|
|
NM_003718.5(CDK13):c.1555A>G (p.Lys519Glu)
|
rs2116266403
|
|
NM_003718.5(CDK13):c.1577C>G (p.Pro526Arg)
|
|
|
NM_003718.5(CDK13):c.1578C>G (p.Pro526=)
|
|
|
NM_003718.5(CDK13):c.159_170dup (p.Pro57_Leu58insProProProPro)
|
|
|
NM_003718.5(CDK13):c.1605C>T (p.Asp535=)
|
|
|
NM_003718.5(CDK13):c.1609G>A (p.Ala537Thr)
|
|
|
NM_003718.5(CDK13):c.1619A>G (p.Lys540Arg)
|
rs2116267140
|
|
NM_003718.5(CDK13):c.1632G>T (p.Gln544His)
|
|
|
NM_003718.5(CDK13):c.1637C>T (p.Thr546Met)
|
|
|
NM_003718.5(CDK13):c.1644G>A (p.Val548=)
|
|
|
NM_003718.5(CDK13):c.1646A>G (p.Glu549Gly)
|
|
|
NM_003718.5(CDK13):c.1657A>G (p.Ile553Val)
|
|
|
NM_003718.5(CDK13):c.1659T>A (p.Ile553=)
|
|
|
NM_003718.5(CDK13):c.1663G>C (p.Asp555His)
|
|
|
NM_003718.5(CDK13):c.1676A>G (p.Lys559Arg)
|
|
|
NM_003718.5(CDK13):c.167_175del (p.Pro56_Leu58del)
|
|
|
NM_003718.5(CDK13):c.1686C>T (p.Val562=)
|
|
|
NM_003718.5(CDK13):c.1699G>C (p.Glu567Gln)
|
|
|
NM_003718.5(CDK13):c.169C>G (p.Pro57Ala)
|
|
|
NM_003718.5(CDK13):c.1700A>G (p.Glu567Gly)
|
|
|
NM_003718.5(CDK13):c.1702A>G (p.Ser568Gly)
|
|
|
NM_003718.5(CDK13):c.1721A>G (p.Lys574Arg)
|
rs865901868
|
|
NM_003718.5(CDK13):c.172C>G (p.Leu58Val)
|
|
|
NM_003718.5(CDK13):c.172C>T (p.Leu58=)
|
|
|
NM_003718.5(CDK13):c.1730C>A (p.Ser577Ter)
|
|
|
NM_003718.5(CDK13):c.1732G>A (p.Val578Ile)
|
|
|
NM_003718.5(CDK13):c.1736C>T (p.Ser579Phe)
|
|
|
NM_003718.5(CDK13):c.173T>C (p.Leu58Pro)
|
|
|
NM_003718.5(CDK13):c.1742A>T (p.Lys581Ile)
|
|
|
NM_003718.5(CDK13):c.1770C>T (p.Ser590=)
|
|
|
NM_003718.5(CDK13):c.177C>T (p.Leu59=)
|
|
|
NM_003718.5(CDK13):c.1783_1785del (p.Glu595del)
|
|
|
NM_003718.5(CDK13):c.1796A>G (p.His599Arg)
|
|
|
NM_003718.5(CDK13):c.1797T>C (p.His599=)
|
|
|
NM_003718.5(CDK13):c.1805T>C (p.Leu602Ser)
|
|
|
NM_003718.5(CDK13):c.1824A>C (p.Pro608=)
|
rs1359599053
|
|
NM_003718.5(CDK13):c.1827G>A (p.Pro609=)
|
|
|
NM_003718.5(CDK13):c.1830dup (p.Pro611fs)
|
|
|
NM_003718.5(CDK13):c.1833T>C (p.Pro611=)
|
|
|
NM_003718.5(CDK13):c.1848G>T (p.Leu616=)
|
|
|
NM_003718.5(CDK13):c.1856A>T (p.Asp619Val)
|
|
|
NM_003718.5(CDK13):c.1858_1860del (p.Lys620del)
|
|
|
NM_003718.5(CDK13):c.1860_1863del (p.Glu621fs)
|
|
|
NM_003718.5(CDK13):c.1865C>A (p.Ala622Asp)
|
|
|
NM_003718.5(CDK13):c.1867G>A (p.Asp623Asn)
|
|
|
NM_003718.5(CDK13):c.1871+6T>C
|
|
|
NM_003718.5(CDK13):c.1871+8C>A
|
|
|
NM_003718.5(CDK13):c.1872-13_1872-12insACTTTTATTTGTCTGTC
|
|
|
NM_003718.5(CDK13):c.1872-3C>G
|
|
|
NM_003718.5(CDK13):c.1872-6_1872-3del
|
|
|
NM_003718.5(CDK13):c.1872-9C>T
|
|
|
NM_003718.5(CDK13):c.1878A>G (p.Arg626=)
|
rs1583966234
|
|
NM_003718.5(CDK13):c.1883A>G (p.Asn628Ser)
|
|
|
NM_003718.5(CDK13):c.1885A>G (p.Ile629Val)
|
|
|
NM_003718.5(CDK13):c.188C>T (p.Ala63Val)
|
|
|
NM_003718.5(CDK13):c.18C>A (p.Asp6Glu)
|
|
|
NM_003718.5(CDK13):c.1906_1908del (p.Lys636del)
|
|
|
NM_003718.5(CDK13):c.1927C>T (p.Arg643Ter)
|
|
|
NM_003718.5(CDK13):c.192C>G (p.Pro64=)
|
|
|
NM_003718.5(CDK13):c.1943A>G (p.Asp648Gly)
|
|
|
NM_003718.5(CDK13):c.1948C>A (p.Pro650Thr)
|
|
|
NM_003718.5(CDK13):c.1949C>T (p.Pro650Leu)
|
|
|
NM_003718.5(CDK13):c.1950G>A (p.Pro650=)
|
|
|
NM_003718.5(CDK13):c.1959T>G (p.Pro653=)
|
rs1583966405
|
|
NM_003718.5(CDK13):c.1980T>A (p.Asp660Glu)
|
|
|
NM_003718.5(CDK13):c.1981C>G (p.Leu661Val)
|
|
|
NM_003718.5(CDK13):c.1984_1986del (p.Ser662del)
|
|
|
NM_003718.5(CDK13):c.1986A>G (p.Ser662=)
|
|
|
NM_003718.5(CDK13):c.1987A>G (p.Lys663Glu)
|
|
|
NM_003718.5(CDK13):c.1989G>A (p.Lys663=)
|
rs1583966482
|
|
NM_003718.5(CDK13):c.1997A>G (p.Glu666Gly)
|
|
|
NM_003718.5(CDK13):c.2021T>G (p.Leu674Ter)
|
rs2116310614
|
|
NM_003718.5(CDK13):c.2043-11A>G
|
|
|
NM_003718.5(CDK13):c.2043-9A>G
|
|
|
NM_003718.5(CDK13):c.2046A>G (p.Ile682Met)
|
|
|
NM_003718.5(CDK13):c.2052G>A (p.Gly684=)
|
|
|
NM_003718.5(CDK13):c.2056C>T (p.Arg686Cys)
|
|
|
NM_003718.5(CDK13):c.2058C>T (p.Arg686=)
|
|
|
NM_003718.5(CDK13):c.2063G>A (p.Gly688Asp)
|
|
|
NM_003718.5(CDK13):c.2068A>G (p.Thr690Ala)
|
|
|
NM_003718.5(CDK13):c.2084T>C (p.Ile695Thr)
|
|
|
NM_003718.5(CDK13):c.2103C>T (p.Cys701=)
|
|
|
NM_003718.5(CDK13):c.2134G>A (p.Gly712Arg)
|
|
|
NM_003718.5(CDK13):c.2141G>A (p.Gly714Asp)
|
|
|
NM_003718.5(CDK13):c.2141G>T (p.Gly714Val)
|
|
|
NM_003718.5(CDK13):c.2148C>G (p.Tyr716Ter)
|
|
|
NM_003718.5(CDK13):c.2148C>T (p.Tyr716=)
|
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_003718.5(CDK13):c.2176G>A (p.Asp726Asn)
|
|
|
NM_003718.5(CDK13):c.2180C>G (p.Thr727Ser)
|
|
|
NM_003718.5(CDK13):c.2181T>G (p.Thr727=)
|
|
|
NM_003718.5(CDK13):c.2182+13A>G
|
|
|
NM_003718.5(CDK13):c.2182+22del
|
|
|
NM_003718.5(CDK13):c.21G>A (p.Thr7=)
|
|
|
NM_003718.5(CDK13):c.2200A>G (p.Lys734Glu)
|
rs1064795731
|
|
NM_003718.5(CDK13):c.2209C>T (p.Arg737Cys)
|
rs1064796451
|
|
NM_003718.5(CDK13):c.2210G>A (p.Arg737His)
|
rs1784692603
|
|
NM_003718.5(CDK13):c.2213T>A (p.Leu738Gln)
|
|
|
NM_003718.5(CDK13):c.2226G>A (p.Lys742=)
|
|
|
NM_003718.5(CDK13):c.2227G>T (p.Glu743Ter)
|
rs2116327525
|
|
NM_003718.5(CDK13):c.2229A>G (p.Glu743=)
|
|
|
NM_003718.5(CDK13):c.2231G>C (p.Gly744Ala)
|
|
|
NM_003718.5(CDK13):c.2235T>C (p.Phe745=)
|
|
|
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter)
|
rs1295790880
|
|
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln)
|
rs1057519634
|
|
NM_003718.5(CDK13):c.2267T>C (p.Leu756Pro)
|
|
|
NM_003718.5(CDK13):c.2272C>T (p.Gln758Ter)
|
|
|
NM_003718.5(CDK13):c.2280C>T (p.Thr760=)
|
|
|
NM_003718.5(CDK13):c.2290A>G (p.Ile764Val)
|
|
|
NM_003718.5(CDK13):c.2314A>T (p.Thr772Ser)
|
|
|
NM_003718.5(CDK13):c.2330C>G (p.Ala777Gly)
|
|
|
NM_003718.5(CDK13):c.2334G>A (p.Leu778=)
|
|
|
NM_003718.5(CDK13):c.2341AAG[1] (p.Lys782del)
|
|
|
NM_003718.5(CDK13):c.2347G>C (p.Asp783His)
|
rs2116327936
|
|
NM_003718.5(CDK13):c.2353+16T>A
|
|
|
NM_003718.5(CDK13):c.2353+19_2353+22del
|
|
|
NM_003718.5(CDK13):c.2354-11C>T
|
|
|
NM_003718.5(CDK13):c.2354-15T>A
|
|
|
NM_003718.5(CDK13):c.2354-7_2354-2del
|
rs2150515503
|
|
NM_003718.5(CDK13):c.2412A>G (p.Ser804=)
|
|
|
NM_003718.5(CDK13):c.2435A>T (p.Asn812Ile)
|
|
|
NM_003718.5(CDK13):c.2440del (p.His813_Ile814insTer)
|
rs1785728001
|
|
NM_003718.5(CDK13):c.2442A>T (p.Ile814=)
|
rs1584033362
|
|
NM_003718.5(CDK13):c.2457A>T (p.Arg819Ser)
|
|
|
NM_003718.5(CDK13):c.2465T>C (p.Met822Thr)
|
|
|
NM_003718.5(CDK13):c.2487T>C (p.His829=)
|
|
|
NM_003718.5(CDK13):c.2493G>T (p.Lys831Asn)
|
|
|
NM_003718.5(CDK13):c.2496C>T (p.Asn832=)
|
|
|
NM_003718.5(CDK13):c.2508A>G (p.Arg836=)
|
|
|
NM_003718.5(CDK13):c.2511T>A (p.Asp837Glu)
|
|
|
NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu)
|
rs759838977
|
|
NM_003718.5(CDK13):c.2524A>G (p.Asn842Asp)
|
rs1554333853
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003718.5(CDK13):c.2543+4T>C
|
|
|
NM_003718.5(CDK13):c.2544-4C>T
|
|
|
NM_003718.5(CDK13):c.2544-7C>G
|
|
|
NM_003718.5(CDK13):c.2549A>G (p.Gln850Arg)
|
|
|
NM_003718.5(CDK13):c.2557C>T (p.Leu853Phe)
|
|
|
NM_003718.5(CDK13):c.2565C>T (p.Asp855=)
|
|
|
NM_003718.5(CDK13):c.2570G>A (p.Gly857Glu)
|
rs1584035995
|
|
NM_003718.5(CDK13):c.2572C>G (p.Leu858Val)
|
rs2150517047
|
|
NM_003718.5(CDK13):c.2578C>G (p.Arg860Gly)
|
|
|
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)
|
rs775898119
|
|
NM_003718.5(CDK13):c.2579G>A (p.Arg860Gln)
|
rs2150517060
|
|
NM_003718.5(CDK13):c.2600+11C>T
|
|
|
NM_003718.5(CDK13):c.2600+19G>T
|
|
|
NM_003718.5(CDK13):c.2600+4936_2600+4938del
|
|
|
NM_003718.5(CDK13):c.2600+4999G>C
|
|
|
NM_003718.5(CDK13):c.2601-11G>A
|
|
|
NM_003718.5(CDK13):c.2601-19T>C
|
|
|
NM_003718.5(CDK13):c.2602C>T (p.Arg868Trp)
|
rs1472729808
|
|
NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln)
|
rs1786184821
|
|
NM_003718.5(CDK13):c.2606C>T (p.Pro869Leu)
|
|
|
NM_003718.5(CDK13):c.2607G>A (p.Pro869=)
|
|
|
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)
|
rs2150526768
|
|
NM_003718.5(CDK13):c.2613T>C (p.Thr871=)
|
|
|
NM_003718.5(CDK13):c.2626A>G (p.Thr876Ala)
|
rs1554335482
|
|
NM_003718.5(CDK13):c.2627C>T (p.Thr876Ile)
|
rs2150526779
|
|
NM_003718.5(CDK13):c.2637C>T (p.Tyr879=)
|
|
|
NM_003718.5(CDK13):c.2638C>T (p.Arg880Cys)
|
rs1005618432
|
|
NM_003718.5(CDK13):c.2639G>A (p.Arg880His)
|
|
|
NM_003718.5(CDK13):c.2655A>G (p.Leu885=)
|
|
|
NM_003718.5(CDK13):c.2659G>A (p.Gly887Arg)
|
|
|
NM_003718.5(CDK13):c.2663A>G (p.Glu888Gly)
|
|
|
NM_003718.5(CDK13):c.2668C>A (p.Arg890=)
|
|
|
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
|
|
|
NM_003718.5(CDK13):c.2685T>A (p.Ile895=)
|
|
|
NM_003718.5(CDK13):c.2691A>G (p.Val897=)
|
|
|
NM_003718.5(CDK13):c.2702+11C>G
|
|
|
NM_003718.5(CDK13):c.2702+14A>G
|
|
|
NM_003718.5(CDK13):c.2702+4A>G
|
|
|
NM_003718.5(CDK13):c.2702+6A>T
|
|
|
NM_003718.5(CDK13):c.2703-13T>A
|
|
|
NM_003718.5(CDK13):c.2703-19C>T
|
|
|
NM_003718.5(CDK13):c.2705G>A (p.Cys902Tyr)
|
|
|
NM_003718.5(CDK13):c.2714G>A (p.Gly905Asp)
|
rs988587142
|
|
NM_003718.5(CDK13):c.2716G>A (p.Glu906Lys)
|
rs1554335512
|
|
NM_003718.5(CDK13):c.2738T>C (p.Ile913Thr)
|
|
|
NM_003718.5(CDK13):c.2766A>G (p.Gln922=)
|
|
|
NM_003718.5(CDK13):c.2773T>A (p.Leu925Ile)
|
|
|
NM_003718.5(CDK13):c.2780+19T>C
|
|
|
NM_003718.5(CDK13):c.2782C>T (p.Arg928Ter)
|
|
|
NM_003718.5(CDK13):c.2790T>A (p.Cys930Ter)
|
|
|
NM_003718.5(CDK13):c.2803C>A (p.Pro935Thr)
|
rs2150536015
|
|
NM_003718.5(CDK13):c.2829A>T (p.Lys943Asn)
|
|
|
NM_003718.5(CDK13):c.2834C>T (p.Pro945Leu)
|
|
|
NM_003718.5(CDK13):c.2844C>T (p.Asn948=)
|
|
|
NM_003718.5(CDK13):c.2845A>G (p.Thr949Ala)
|
|
|
NM_003718.5(CDK13):c.2854_2858del (p.Pro952fs)
|
|
|
NM_003718.5(CDK13):c.2863C>G (p.Gln955Glu)
|
|
|
NM_003718.5(CDK13):c.2866dup (p.Tyr956fs)
|
rs1554337120
|
|
NM_003718.5(CDK13):c.2873G>A (p.Arg958Gln)
|
|
|
NM_003718.5(CDK13):c.2880A>T (p.Leu960Phe)
|
|
|
NM_003718.5(CDK13):c.2880_2881del (p.Glu962fs)
|
|
|
NM_003718.5(CDK13):c.2897+14G>A
|
|
|
NM_003718.5(CDK13):c.2898-10C>G
|
|
|
NM_003718.5(CDK13):c.2898-2A>G
|
|
|
NM_003718.5(CDK13):c.2898-8C>T
|
|
|
NM_003718.5(CDK13):c.2909C>T (p.Ala970Val)
|
|
|
NM_003718.5(CDK13):c.2913G>A (p.Ala971=)
|
|
|
NM_003718.5(CDK13):c.2926G>C (p.Asp976His)
|
|
|
NM_003718.5(CDK13):c.2932A>G (p.Met978Val)
|
|
|
NM_003718.5(CDK13):c.2950A>T (p.Ser984Cys)
|
|
|
NM_003718.5(CDK13):c.2952T>C (p.Ser984=)
|
|
|
NM_003718.5(CDK13):c.2980C>A (p.Gln994Lys)
|
|
|
NM_003718.5(CDK13):c.2980C>T (p.Gln994Ter)
|
|
|
NM_003718.5(CDK13):c.2996G>A (p.Arg999Gln)
|
|
|
NM_003718.5(CDK13):c.3029+10T>C
|
|
|
NM_003718.5(CDK13):c.3029+18C>T
|
|
|
NM_003718.5(CDK13):c.3029+19TAT[3]
|
|
|
NM_003718.5(CDK13):c.3029+33_3029+45del
|
|
|
NM_003718.5(CDK13):c.3029+3A>G
|
|
|
NM_003718.5(CDK13):c.3030-9T>C
|
rs1462817001
|
|
NM_003718.5(CDK13):c.3073C>T (p.Arg1025Ter)
|
rs1562767666
|
|
NM_003718.5(CDK13):c.3096C>T (p.Gly1032=)
|
|
|
NM_003718.5(CDK13):c.3100A>G (p.Thr1034Ala)
|
|
|
NM_003718.5(CDK13):c.3111T>G (p.Val1037=)
|
|
|
NM_003718.5(CDK13):c.3116C>T (p.Thr1039Ile)
|
|
|
NM_003718.5(CDK13):c.3128C>T (p.Pro1043Leu)
|
|
|
NM_003718.5(CDK13):c.3130A>C (p.Arg1044=)
|
|
|
NM_003718.5(CDK13):c.3151T>C (p.Leu1051=)
|
|
|
NM_003718.5(CDK13):c.3166A>T (p.Thr1056Ser)
|
|
|
NM_003718.5(CDK13):c.3168C>G (p.Thr1056=)
|
|
|
NM_003718.5(CDK13):c.3182G>A (p.Gly1061Asp)
|
rs1786836631
|
|
NM_003718.5(CDK13):c.3208T>C (p.Ser1070Pro)
|
|
|
NM_003718.5(CDK13):c.3212A>G (p.Gln1071Arg)
|
|
|
NM_003718.5(CDK13):c.3215G>C (p.Gly1072Ala)
|
|
|
NM_003718.5(CDK13):c.3223A>C (p.Asn1075His)
|
|
|
NM_003718.5(CDK13):c.3230C>T (p.Ala1077Val)
|
|
|
NM_003718.5(CDK13):c.3235+8A>C
|
|
|
NM_003718.5(CDK13):c.3236-1G>A
|
|
|
NM_003718.5(CDK13):c.3236-6C>G
|
|
|
NM_003718.5(CDK13):c.3237A>G (p.Val1079=)
|
|
|
NM_003718.5(CDK13):c.3248C>T (p.Pro1083Leu)
|
|
|
NM_003718.5(CDK13):c.3258C>G (p.His1086Gln)
|
|
|
NM_003718.5(CDK13):c.3263A>G (p.Asn1088Ser)
|
|
|
NM_003718.5(CDK13):c.3274T>C (p.Leu1092=)
|
|
|
NM_003718.5(CDK13):c.3285A>C (p.Leu1095=)
|
|
|
NM_003718.5(CDK13):c.3287T>G (p.Leu1096Arg)
|
|
|
NM_003718.5(CDK13):c.3291C>A (p.Asn1097Lys)
|
rs755667901
|
|
NM_003718.5(CDK13):c.32dup (p.Gly12fs)
|
|
|
NM_003718.5(CDK13):c.3300del (p.Gln1100fs)
|
|
|
NM_003718.5(CDK13):c.3304A>G (p.Lys1102Glu)
|
|
|
NM_003718.5(CDK13):c.3312T>G (p.Ser1104Arg)
|
|
|
NM_003718.5(CDK13):c.3313G>A (p.Val1105Ile)
|
|
|
NM_003718.5(CDK13):c.3339G>C (p.Val1113=)
|
|
|
NM_003718.5(CDK13):c.3351G>T (p.Lys1117Asn)
|
|
|
NM_003718.5(CDK13):c.3352G>A (p.Val1118Ile)
|
|
|
NM_003718.5(CDK13):c.3358T>G (p.Ser1120Ala)
|
|
|
NM_003718.5(CDK13):c.3370C>T (p.Gln1124Ter)
|
|
|
NM_003718.5(CDK13):c.3374_3375delinsCC (p.Gln1125Pro)
|
|
|
NM_003718.5(CDK13):c.3376C>G (p.Leu1126Val)
|
|
|
NM_003718.5(CDK13):c.3385A>G (p.Ile1129Val)
|
|
|
NM_003718.5(CDK13):c.3395C>T (p.Pro1132Leu)
|
|
|
NM_003718.5(CDK13):c.3400G>T (p.Gly1134Ter)
|
|
|
NM_003718.5(CDK13):c.3418G>A (p.Glu1140Lys)
|
|
|
NM_003718.5(CDK13):c.3428C>T (p.Thr1143Ile)
|
|
|
NM_003718.5(CDK13):c.3428_3431del (p.Thr1143fs)
|
|
|
NM_003718.5(CDK13):c.3429A>G (p.Thr1143=)
|
|
|
NM_003718.5(CDK13):c.3435A>G (p.Pro1145=)
|
|
|
NM_003718.5(CDK13):c.3456T>C (p.Ser1152=)
|
|
|
NM_003718.5(CDK13):c.3458C>T (p.Ser1153Leu)
|
|
|
NM_003718.5(CDK13):c.3459G>A (p.Ser1153=)
|
|
|
NM_003718.5(CDK13):c.3464C>T (p.Pro1155Leu)
|
|
|
NM_003718.5(CDK13):c.3465G>A (p.Pro1155=)
|
|
|
NM_003718.5(CDK13):c.3465G>T (p.Pro1155=)
|
|
|
NM_003718.5(CDK13):c.3468G>A (p.Leu1156=)
|
|
|
NM_003718.5(CDK13):c.3480G>T (p.Gln1160His)
|
rs2150547417
|
|
NM_003718.5(CDK13):c.3483T>A (p.Pro1161=)
|
rs200853742
|
|
NM_003718.5(CDK13):c.3483_3484delinsGC (p.Ser1162Pro)
|
|
|
NM_003718.5(CDK13):c.3502C>T (p.Pro1168Ser)
|
|
|
NM_003718.5(CDK13):c.3509T>C (p.Val1170Ala)
|
|
|
NM_003718.5(CDK13):c.3515C>G (p.Thr1172Ser)
|
|
|
NM_003718.5(CDK13):c.3520G>A (p.Ala1174Thr)
|
|
|
NM_003718.5(CDK13):c.3530C>T (p.Ala1177Val)
|
|
|
NM_003718.5(CDK13):c.3556C>T (p.Leu1186=)
|
|
|
NM_003718.5(CDK13):c.3610G>C (p.Glu1204Gln)
|
|
|
NM_003718.5(CDK13):c.3612A>G (p.Glu1204=)
|
|
|
NM_003718.5(CDK13):c.3624T>G (p.Asn1208Lys)
|
|
|
NM_003718.5(CDK13):c.3629C>T (p.Ser1210Leu)
|
|
|
NM_003718.5(CDK13):c.3633A>C (p.Gly1211=)
|
|
|
NM_003718.5(CDK13):c.3641C>T (p.Ala1214Val)
|
|
|
NM_003718.5(CDK13):c.3642G>A (p.Ala1214=)
|
|
|
NM_003718.5(CDK13):c.3643T>C (p.Ser1215Pro)
|
|
|
NM_003718.5(CDK13):c.3649C>G (p.Gln1217Glu)
|
|
|
NM_003718.5(CDK13):c.3680C>T (p.Pro1227Leu)
|
|
|
NM_003718.5(CDK13):c.3686C>T (p.Ser1229Leu)
|
|
|
NM_003718.5(CDK13):c.3687G>A (p.Ser1229=)
|
|
|
NM_003718.5(CDK13):c.3688+16C>T
|
|
|
NM_003718.5(CDK13):c.3688+17C>G
|
|
|
NM_003718.5(CDK13):c.3689-13_3689-12del
|
|
|
NM_003718.5(CDK13):c.3689-194del
|
rs5883719
|
|
NM_003718.5(CDK13):c.3698A>C (p.Asp1233Ala)
|
|
|
NM_003718.5(CDK13):c.3702C>T (p.Leu1234=)
|
|
|
NM_003718.5(CDK13):c.3715G>T (p.Asp1239Tyr)
|
|
|
NM_003718.5(CDK13):c.3719T>C (p.Met1240Thr)
|
|
|
NM_003718.5(CDK13):c.3720G>A (p.Met1240Ile)
|
|
|
NM_003718.5(CDK13):c.3751C>T (p.Arg1251Trp)
|
|
|
NM_003718.5(CDK13):c.3758G>A (p.Arg1253Gln)
|
rs150957134
|
|
NM_003718.5(CDK13):c.3763C>T (p.Leu1255=)
|
|
|
NM_003718.5(CDK13):c.3786C>T (p.Pro1262=)
|
|
|
NM_003718.5(CDK13):c.3807A>G (p.Pro1269=)
|
|
|
NM_003718.5(CDK13):c.3812C>T (p.Thr1271Ile)
|
|
|
NM_003718.5(CDK13):c.3813T>C (p.Thr1271=)
|
|
|
NM_003718.5(CDK13):c.3843C>T (p.Asn1281=)
|
|
|
NM_003718.5(CDK13):c.3847C>T (p.His1283Tyr)
|
|
|
NM_003718.5(CDK13):c.3863G>A (p.Ser1288Asn)
|
|
|
NM_003718.5(CDK13):c.3878_3883delinsGTGAGG (p.Asp1293_His1295delinsGlyGluAsp)
|
|
|
NM_003718.5(CDK13):c.3888C>T (p.Ala1296=)
|
rs150235453
|
|
NM_003718.5(CDK13):c.3889G>A (p.Gly1297Arg)
|
|
|
NM_003718.5(CDK13):c.3902C>T (p.Ala1301Val)
|
|
|
NM_003718.5(CDK13):c.3910C>A (p.Gln1304Lys)
|
|
|
NM_003718.5(CDK13):c.3920C>T (p.Ala1307Val)
|
|
|
NM_003718.5(CDK13):c.3929A>C (p.Gln1310Pro)
|
|
|
NM_003718.5(CDK13):c.3933C>G (p.Pro1311=)
|
|
|
NM_003718.5(CDK13):c.3964G>A (p.Asp1322Asn)
|
|
|
NM_003718.5(CDK13):c.3964G>C (p.Asp1322His)
|
|
|
NM_003718.5(CDK13):c.3979G>T (p.Asp1327Tyr)
|
|
|
NM_003718.5(CDK13):c.3988G>C (p.Val1330Leu)
|
|
|
NM_003718.5(CDK13):c.4025C>T (p.Ser1342Phe)
|
|
|
NM_003718.5(CDK13):c.4027T>C (p.Ser1343Pro)
|
|
|
NM_003718.5(CDK13):c.4035T>C (p.Ser1345=)
|
|
|
NM_003718.5(CDK13):c.4038T>G (p.Ser1346=)
|
|
|
NM_003718.5(CDK13):c.4044T>G (p.Pro1348=)
|
|
|
NM_003718.5(CDK13):c.4055A>G (p.Asn1352Ser)
|
|
|
NM_003718.5(CDK13):c.4069A>G (p.Ser1357Gly)
|
|
|
NM_003718.5(CDK13):c.4093C>A (p.Arg1365=)
|
|
|
NM_003718.5(CDK13):c.4093C>T (p.Arg1365Ter)
|
|
|
NM_003718.5(CDK13):c.4094G>A (p.Arg1365Gln)
|
|
|
NM_003718.5(CDK13):c.4108G>C (p.Gly1370Arg)
|
|
|
NM_003718.5(CDK13):c.4118A>G (p.Asp1373Gly)
|
|
|
NM_003718.5(CDK13):c.4121T>C (p.Ile1374Thr)
|
|
|
NM_003718.5(CDK13):c.4133A>G (p.Asp1378Gly)
|
|
|
NM_003718.5(CDK13):c.4139A>G (p.Tyr1380Cys)
|
|
|
NM_003718.5(CDK13):c.4157A>T (p.His1386Leu)
|
|
|
NM_003718.5(CDK13):c.4171C>T (p.Pro1391Ser)
|
|
|
NM_003718.5(CDK13):c.4172C>G (p.Pro1391Arg)
|
|
|
NM_003718.5(CDK13):c.4179T>G (p.Pro1393=)
|
|
|
NM_003718.5(CDK13):c.4192G>C (p.Glu1398Gln)
|
|
|
NM_003718.5(CDK13):c.4216G>T (p.Gly1406Ter)
|
|
|
NM_003718.5(CDK13):c.4221T>C (p.Tyr1407=)
|
|
|
NM_003718.5(CDK13):c.4231T>C (p.Tyr1411His)
|
|
|
NM_003718.5(CDK13):c.4233C>T (p.Tyr1411=)
|
|
|
NM_003718.5(CDK13):c.4236C>T (p.Leu1412=)
|
|
|
NM_003718.5(CDK13):c.4241C>T (p.Ala1414Val)
|
|
|
NM_003718.5(CDK13):c.4251GTT[1] (p.Leu1418del)
|
rs2150548778
|
|
NM_003718.5(CDK13):c.4257T>C (p.Phe1419=)
|
|
|
NM_003718.5(CDK13):c.4275T>C (p.His1425=)
|
|
|
NM_003718.5(CDK13):c.4281T>G (p.Phe1427Leu)
|
|
|
NM_003718.5(CDK13):c.4292A>G (p.His1431Arg)
|
|
|
NM_003718.5(CDK13):c.4296T>G (p.Gly1432=)
|
|
|
NM_003718.5(CDK13):c.4299T>G (p.Pro1433=)
|
|
|
NM_003718.5(CDK13):c.4303G>A (p.Ala1435Thr)
|
|
|
NM_003718.5(CDK13):c.4313C>A (p.Ala1438Glu)
|
|
|
NM_003718.5(CDK13):c.4322G>A (p.Ser1441Asn)
|
|
|
NM_003718.5(CDK13):c.4338G>A (p.Gly1446=)
|
|
|
NM_003718.5(CDK13):c.4339C>T (p.Pro1447Ser)
|
|
|
NM_003718.5(CDK13):c.4351C>T (p.His1451Tyr)
|
|
|
NM_003718.5(CDK13):c.4362A>G (p.Pro1454=)
|
|
|
NM_003718.5(CDK13):c.4379A>G (p.Tyr1460Cys)
|
|
|
NM_003718.5(CDK13):c.4382_4385del (p.Asn1461fs)
|
rs2150548880
|
|
NM_003718.5(CDK13):c.4388G>T (p.Gly1463Val)
|
|
|
NM_003718.5(CDK13):c.4403A>G (p.Glu1468Gly)
|
rs1787010564
|
|
NM_003718.5(CDK13):c.4405A>G (p.Asn1469Asp)
|
|
|
NM_003718.5(CDK13):c.4409C>G (p.Pro1470Arg)
|
|
|
NM_003718.5(CDK13):c.4410G>A (p.Pro1470=)
|
|
|
NM_003718.5(CDK13):c.4426A>C (p.Met1476Leu)
|
|
|
NM_003718.5(CDK13):c.4429_4430dup (p.Gly1478fs)
|
|
|
NM_003718.5(CDK13):c.4430A>G (p.His1477Arg)
|
|
|
NM_003718.5(CDK13):c.4435C>T (p.Gln1479Ter)
|
rs2150548951
|
|
NM_003718.5(CDK13):c.4437G>C (p.Gln1479His)
|
|
|
NM_003718.5(CDK13):c.4444A>C (p.Thr1482Pro)
|
|
|
NM_003718.5(CDK13):c.4450C>T (p.Pro1484Ser)
|
|
|
NM_003718.5(CDK13):c.4450_4452del (p.Pro1484del)
|
|
|
NM_003718.5(CDK13):c.4458A>G (p.Gln1486=)
|
|
|
NM_003718.5(CDK13):c.4461A>G (p.Gly1487=)
|
|
|
NM_003718.5(CDK13):c.4473A>T (p.Ser1491=)
|
|
|
NM_003718.5(CDK13):c.4476A>C (p.Gln1492His)
|
|
|
NM_003718.5(CDK13):c.4482C>T (p.Tyr1494=)
|
|
|
NM_003718.5(CDK13):c.4493T>C (p.Ile1498Thr)
|
|
|
NM_003718.5(CDK13):c.4504A>G (p.Thr1502Ala)
|
|
|
NM_003718.5(CDK13):c.4505C>G (p.Thr1502Ser)
|
|
|
NM_003718.5(CDK13):c.4509CAGAGG[2] (p.1504RG[2])
|
|
|
NM_003718.5(CDK13):c.4526G>A (p.Gly1509Glu)
|
|
|
NM_003718.5(CDK13):c.4535A>T (p.Tyr1512Phe)
|
|
|
NM_003718.5(CDK13):c.4536C>T (p.Tyr1512=)
|
|
|
NM_003718.5(CDK13):c.45G>A (p.Leu15=)
|
|
|
NM_003718.5(CDK13):c.47G>C (p.Ser16Thr)
|
|
|
NM_003718.5(CDK13):c.485C>G (p.Ala162Gly)
|
|
|
NM_003718.5(CDK13):c.486C>T (p.Ala162=)
|
rs1266918450
|
|
NM_003718.5(CDK13):c.489C>T (p.Ser163=)
|
|
|
NM_003718.5(CDK13):c.48C>G (p.Ser16Arg)
|
|
|
NM_003718.5(CDK13):c.490G>A (p.Ala164Thr)
|
|
|
NM_003718.5(CDK13):c.499G>A (p.Ala167Thr)
|
|
|
NM_003718.5(CDK13):c.501G>A (p.Ala167=)
|
|
|
NM_003718.5(CDK13):c.503C>T (p.Ala168Val)
|
|
|
NM_003718.5(CDK13):c.505A>G (p.Thr169Ala)
|
|
|
NM_003718.5(CDK13):c.511G>A (p.Ala171Thr)
|
|
|
NM_003718.5(CDK13):c.513C>T (p.Ala171=)
|
|
|
NM_003718.5(CDK13):c.516G>A (p.Gly172=)
|
|
|
NM_003718.5(CDK13):c.521C>T (p.Thr174Met)
|
|
|
NM_003718.5(CDK13):c.527del (p.Gly176fs)
|
|
|
NM_003718.5(CDK13):c.527dup (p.Ser177fs)
|
|
|
NM_003718.5(CDK13):c.529A>G (p.Ser177Gly)
|
|
|
NM_003718.5(CDK13):c.532G>C (p.Gly178Arg)
|
|
|
NM_003718.5(CDK13):c.537del (p.Ser180fs)
|
|
|
NM_003718.5(CDK13):c.545C>G (p.Ala182Gly)
|
|
|
NM_003718.5(CDK13):c.547T>A (p.Ser183Thr)
|
|
|
NM_003718.5(CDK13):c.547TCC[2] (p.Ser185del)
|
|
|
NM_003718.5(CDK13):c.549C>T (p.Ser183=)
|
|
|
NM_003718.5(CDK13):c.56_65del (p.Glu19fs)
|
|
|
NM_003718.5(CDK13):c.58A>T (p.Lys20Ter)
|
|
|
NM_003718.5(CDK13):c.5C>T (p.Pro2Leu)
|
|
|
NM_003718.5(CDK13):c.60G>A (p.Lys20=)
|
|
|
NM_003718.5(CDK13):c.61A>T (p.Lys21Ter)
|
|
|
NM_003718.5(CDK13):c.620G>T (p.Gly207Val)
|
|
|
NM_003718.5(CDK13):c.623G>A (p.Arg208His)
|
|
|
NM_003718.5(CDK13):c.629A>G (p.Lys210Arg)
|
|
|
NM_003718.5(CDK13):c.62A>G (p.Lys21Arg)
|
|
|
NM_003718.5(CDK13):c.634C>T (p.Arg212Cys)
|
|
|
NM_003718.5(CDK13):c.640C>T (p.Arg214Cys)
|
|
|
NM_003718.5(CDK13):c.641G>T (p.Arg214Leu)
|
|
|
NM_003718.5(CDK13):c.645G>C (p.Glu215Asp)
|
|
|
NM_003718.5(CDK13):c.645G>T (p.Glu215Asp)
|
|
|
NM_003718.5(CDK13):c.650G>A (p.Arg217Gln)
|
|
|
NM_003718.5(CDK13):c.657G>A (p.Arg219=)
|
|
|
NM_003718.5(CDK13):c.659A>G (p.Asp220Gly)
|
|
|
NM_003718.5(CDK13):c.662G>C (p.Gly221Ala)
|
|
|
NM_003718.5(CDK13):c.662G>T (p.Gly221Val)
|
|
|
NM_003718.5(CDK13):c.665_666delinsGGCGGGATGGGCAT (p.Gln222delinsArgArgAspGlyHis)
|
|
|
NM_003718.5(CDK13):c.668G>C (p.Arg223Pro)
|
|
|
NM_003718.5(CDK13):c.678C>T (p.Ser226=)
|
|
|
NM_003718.5(CDK13):c.683C>T (p.Ala228Val)
|
|
|
NM_003718.5(CDK13):c.684C>T (p.Ala228=)
|
|
|
NM_003718.5(CDK13):c.687C>T (p.Ser229=)
|
|
|
NM_003718.5(CDK13):c.693C>G (p.Ser231=)
|
|
|
NM_003718.5(CDK13):c.698G>A (p.Ser233Asn)
|
|
|
NM_003718.5(CDK13):c.700C>T (p.Arg234Cys)
|
|
|
NM_003718.5(CDK13):c.703CACAGC[1] (p.235HS[1])
|
|
|
NM_003718.5(CDK13):c.707G>A (p.Ser236Asn)
|
|
|
NM_003718.5(CDK13):c.707_715delinsTCCACAGCA (p.Ser236_Gly239delinsIleHisSerSer)
|
rs2116062113
|
|
NM_003718.5(CDK13):c.717C>A (p.Gly239=)
|
|
|
NM_003718.5(CDK13):c.726G>A (p.Arg242=)
|
|
|
NM_003718.5(CDK13):c.729C>G (p.Ala243=)
|
|
|
NM_003718.5(CDK13):c.729C>T (p.Ala243=)
|
|
|
NM_003718.5(CDK13):c.730G>A (p.Glu244Lys)
|
|
|
NM_003718.5(CDK13):c.732G>A (p.Glu244=)
|
|
|
NM_003718.5(CDK13):c.740A>G (p.Lys247Arg)
|
|
|
NM_003718.5(CDK13):c.741G>A (p.Lys247=)
|
|
|
NM_003718.5(CDK13):c.745_750dup (p.Ser250_Ser251insGlySer)
|
|
|
NM_003718.5(CDK13):c.748A>G (p.Ser250Gly)
|
|
|
NM_003718.5(CDK13):c.748AGC[2] (p.Ser252_Ser254del)
|
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NM_003718.5(CDK13):c.748AGC[6] (p.Ser254dup)
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rs746568580
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NM_003718.5(CDK13):c.751A>G (p.Ser251Gly)
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NM_003718.5(CDK13):c.756_803del (p.Gly255_Ser270del)
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NM_003718.5(CDK13):c.760A>G (p.Ser254Gly)
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NM_003718.5(CDK13):c.763GGC[3] (p.Gly256_Arg257insGly)
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NM_003718.5(CDK13):c.767G>A (p.Gly256Asp)
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NM_003718.5(CDK13):c.768C>T (p.Gly256=)
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NM_003718.5(CDK13):c.771C>T (p.Arg257=)
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NM_003718.5(CDK13):c.772C>G (p.Arg258Gly)
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NM_003718.5(CDK13):c.772C>T (p.Arg258Trp)
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NM_003718.5(CDK13):c.777A>G (p.Lys259=)
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NM_003718.5(CDK13):c.782C>T (p.Ala261Val)
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NM_003718.5(CDK13):c.786G>C (p.Ser262=)
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NM_003718.5(CDK13):c.789C>A (p.Ala263=)
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NM_003718.5(CDK13):c.789C>T (p.Ala263=)
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NM_003718.5(CDK13):c.789_798del (p.Thr264fs)
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NM_003718.5(CDK13):c.790A>G (p.Thr264Ala)
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rs763368419
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NM_003718.5(CDK13):c.795C>T (p.Ser265=)
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NM_003718.5(CDK13):c.801C>T (p.Ser267=)
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NM_003718.5(CDK13):c.812G>T (p.Arg271Leu)
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NM_003718.5(CDK13):c.813C>G (p.Arg271=)
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rs1583893444
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NM_003718.5(CDK13):c.815A>G (p.Lys272Arg)
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rs1223447697
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NM_003718.5(CDK13):c.819C>T (p.Asp273=)
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NM_003718.5(CDK13):c.823G>T (p.Asp275Tyr)
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NM_003718.5(CDK13):c.827C>T (p.Ser276Leu)
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NM_003718.5(CDK13):c.828G>C (p.Ser276=)
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NM_003718.5(CDK13):c.832G>A (p.Ala278Thr)
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NM_003718.5(CDK13):c.835C>T (p.His279Tyr)
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NM_003718.5(CDK13):c.838C>G (p.Arg280Gly)
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NM_003718.5(CDK13):c.846G>A (p.Arg282=)
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NM_003718.5(CDK13):c.848C>T (p.Thr283Ile)
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NM_003718.5(CDK13):c.850A>G (p.Lys284Glu)
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NM_003718.5(CDK13):c.864G>A (p.Glu288=)
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NM_003718.5(CDK13):c.867G>A (p.Pro289=)
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NM_003718.5(CDK13):c.869C>T (p.Pro290Leu)
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rs923708985
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NM_003718.5(CDK13):c.872C>T (p.Ser291Leu)
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NM_003718.5(CDK13):c.873G>A (p.Ser291=)
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NM_003718.5(CDK13):c.876C>T (p.Ala292=)
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NM_003718.5(CDK13):c.879C>T (p.Tyr293=)
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NM_003718.5(CDK13):c.885A>G (p.Glu295=)
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NM_003718.5(CDK13):c.893A>T (p.Lys298Met)
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NM_003718.5(CDK13):c.897C>T (p.Ala299=)
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NM_003718.5(CDK13):c.900C>T (p.Tyr300=)
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NM_003718.5(CDK13):c.907G>A (p.Asp303Asn)
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NM_003718.5(CDK13):c.909C>G (p.Asp303Glu)
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NM_003718.5(CDK13):c.912G>T (p.Lys304Asn)
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NM_003718.5(CDK13):c.915C>G (p.Thr305=)
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NM_003718.5(CDK13):c.926C>T (p.Ala309Val)
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NM_003718.5(CDK13):c.930C>T (p.Tyr310=)
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NM_003718.5(CDK13):c.937C>T (p.Arg313Trp)
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NM_003718.5(CDK13):c.939G>A (p.Arg313=)
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NM_003718.5(CDK13):c.941G>A (p.Arg314Gln)
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NM_003718.5(CDK13):c.942G>T (p.Arg314=)
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NM_003718.5(CDK13):c.945C>T (p.Ser315=)
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NM_003718.5(CDK13):c.94C>G (p.Leu32Val)
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NM_003718.5(CDK13):c.94C>T (p.Leu32=)
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NM_003718.5(CDK13):c.950G>T (p.Ser317Ile)
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NM_003718.5(CDK13):c.950del (p.Ser317fs)
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NM_003718.5(CDK13):c.955C>T (p.Leu319=)
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NM_003718.5(CDK13):c.956T>A (p.Leu319Gln)
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NM_003718.5(CDK13):c.956T>G (p.Leu319Arg)
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NM_003718.5(CDK13):c.963C>T (p.Gly321=)
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NM_003718.5(CDK13):c.964C>G (p.Arg322Gly)
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NM_003718.5(CDK13):c.965G>C (p.Arg322Pro)
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NM_003718.5(CDK13):c.97T>C (p.Ser33Pro)
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NM_003718.5(CDK13):c.984C>T (p.Ser328=)
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NM_003718.5(CDK13):c.992C>T (p.Ala331Val)
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NM_003718.5(CDK13):c.993C>A (p.Ala331=)
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rs1205068562
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NM_003718.5(CDK13):c.995C>T (p.Ser332Phe)
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NM_003718.5(CDK13):c.997C>T (p.Gln333Ter)
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NM_003718.5(CDK13):c.99C>T (p.Ser33=)
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