NM_024596.5(MCPH1):c.1728C>T (p.Gly576=)
|
rs41313954
|
0.02943
|
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr)
|
rs2922828
|
0.01586
|
NM_024596.5(MCPH1):c.2452+97C>T
|
rs115375310
|
0.01552
|
NM_024596.5(MCPH1):c.671-176T>G
|
rs62496812
|
0.01548
|
NM_024596.5(MCPH1):c.115-56A>G
|
rs76553875
|
0.01515
|
NM_024596.5(MCPH1):c.233+289A>T
|
rs78101455
|
0.01147
|
NC_000008.11:g.6406587C>T
|
rs190692683
|
0.01025
|
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly)
|
rs17076894
|
0.00834
|
NM_024596.5(MCPH1):c.114+187T>C
|
rs114102079
|
0.00758
|
NM_024596.5(MCPH1):c.1974-130G>A
|
rs115299416
|
0.00729
|
NM_024596.5(MCPH1):c.2136+74A>G
|
rs79036233
|
0.00703
|
NM_024596.5(MCPH1):c.1936-87A>C
|
rs2979667
|
0.00695
|
NM_024596.5(MCPH1):c.*199G>A
|
rs17317651
|
0.00596
|
NM_024596.5(MCPH1):c.2452+313G>A
|
rs143238857
|
0.00586
|
NM_024596.5(MCPH1):c.321+215C>G
|
rs78909070
|
0.00500
|
NM_024596.5(MCPH1):c.1974-306C>T
|
rs143254256
|
0.00391
|
NM_024596.5(MCPH1):c.2137-293A>G
|
rs184911152
|
0.00363
|
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys)
|
rs115088000
|
0.00334
|
NM_024596.5(MCPH1):c.477A>T (p.Ser159=)
|
rs41313948
|
0.00328
|
NM_024596.5(MCPH1):c.1781C>T (p.Thr594Met)
|
rs115033462
|
0.00319
|
NM_024596.5(MCPH1):c.2401A>G (p.Ser801Gly)
|
rs45540031
|
0.00217
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
NM_024596.5(MCPH1):c.1236T>C (p.Tyr412=)
|
rs142858644
|
0.00120
|
NM_024596.5(MCPH1):c.1951G>A (p.Val651Ile)
|
rs138218829
|
0.00089
|
NM_024596.5(MCPH1):c.1193C>T (p.Ala398Val)
|
rs202241113
|
0.00080
|
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn)
|
rs201261159
|
0.00067
|
NM_024596.5(MCPH1):c.1061T>C (p.Val354Ala)
|
rs148526209
|
0.00054
|
NM_024596.5(MCPH1):c.321+47C>T
|
rs192919183
|
0.00049
|
NM_024596.5(MCPH1):c.436+46A>G
|
rs200561926
|
0.00047
|
NM_024596.5(MCPH1):c.783T>A (p.Asp261Glu)
|
rs199700538
|
0.00046
|
NM_024596.5(MCPH1):c.664T>C (p.Cys222Arg)
|
rs41313952
|
0.00037
|
NM_024596.5(MCPH1):c.1785T>C (p.Ser595=)
|
rs146744659
|
0.00035
|
NM_024596.5(MCPH1):c.2013A>G (p.Lys671=)
|
rs371498495
|
0.00034
|
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=)
|
rs372450763
|
0.00021
|
NM_024596.5(MCPH1):c.1825+14C>G
|
rs2583
|
0.00019
|
NM_024596.5(MCPH1):c.867G>A (p.Gln289=)
|
rs201231900
|
0.00019
|
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=)
|
rs185736569
|
0.00017
|
NM_024596.5(MCPH1):c.1055C>T (p.Ser352Phe)
|
rs532399692
|
0.00016
|
NM_024596.5(MCPH1):c.165C>A (p.Gly55=)
|
rs772896845
|
0.00012
|
NM_024596.5(MCPH1):c.2452+9C>A
|
rs200446680
|
0.00011
|
NM_024596.5(MCPH1):c.1866C>T (p.Asp622=)
|
rs754393094
|
0.00010
|
NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile)
|
rs200814676
|
0.00009
|
NM_024596.5(MCPH1):c.729A>T (p.Gly243=)
|
rs370543894
|
0.00007
|
NM_024596.5(MCPH1):c.1909T>C (p.Leu637=)
|
rs200346036
|
0.00006
|
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile)
|
rs201403389
|
0.00006
|
NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)
|
rs757012933
|
0.00006
|
NM_024596.5(MCPH1):c.671A>G (p.Asp224Gly)
|
rs770989341
|
0.00006
|
NM_024596.5(MCPH1):c.804A>G (p.Val268=)
|
rs759039958
|
0.00006
|
NM_024596.5(MCPH1):c.2133T>C (p.Asp711=)
|
rs375451164
|
0.00005
|
NM_024596.5(MCPH1):c.75A>G (p.Ser25=)
|
rs760499374
|
0.00005
|
NM_024596.5(MCPH1):c.1113C>T (p.Cys371=)
|
rs587783732
|
0.00004
|
NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)
|
rs201026769
|
0.00004
|
NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)
|
rs374596700
|
0.00004
|
NM_024596.5(MCPH1):c.2355G>T (p.Arg785=)
|
rs760206052
|
0.00004
|
NM_024596.5(MCPH1):c.1005C>A (p.Thr335=)
|
rs755771006
|
0.00003
|
NM_024596.5(MCPH1):c.115-6C>G
|
rs368712550
|
0.00003
|
NM_024596.5(MCPH1):c.1329C>T (p.Ser443=)
|
rs775492524
|
0.00003
|
NM_024596.5(MCPH1):c.1485T>C (p.Thr495=)
|
rs565739739
|
0.00003
|
NM_024596.5(MCPH1):c.15C>T (p.Ile5=)
|
rs757247746
|
0.00003
|
NM_024596.5(MCPH1):c.297C>T (p.His99=)
|
rs727504012
|
0.00003
|
NM_024596.5(MCPH1):c.1389C>T (p.Cys463=)
|
rs371566184
|
0.00002
|
NM_024596.5(MCPH1):c.1809C>T (p.Pro603=)
|
rs757697166
|
0.00002
|
NM_024596.5(MCPH1):c.1936-6C>A
|
rs779947393
|
0.00002
|
NM_024596.5(MCPH1):c.22+12C>T
|
rs779918939
|
0.00002
|
NM_024596.5(MCPH1):c.1101G>A (p.Pro367=)
|
rs201084851
|
0.00001
|
NM_024596.5(MCPH1):c.1263T>A (p.Leu421=)
|
rs754252510
|
0.00001
|
NM_024596.5(MCPH1):c.1494C>T (p.Cys498=)
|
rs199951156
|
0.00001
|
NM_024596.5(MCPH1):c.192G>A (p.Gln64=)
|
rs767548647
|
0.00001
|
NM_024596.5(MCPH1):c.1936-10A>G
|
rs587783736
|
0.00001
|
NM_024596.5(MCPH1):c.2064C>T (p.Ser688=)
|
rs368480838
|
0.00001
|
NM_024596.5(MCPH1):c.2215-12T>G
|
rs780921843
|
0.00001
|
NM_024596.5(MCPH1):c.2346C>T (p.Cys782=)
|
rs372319072
|
0.00001
|
NM_024596.5(MCPH1):c.2367C>T (p.Val789=)
|
rs764585700
|
0.00001
|
NM_024596.5(MCPH1):c.285T>C (p.Asn95=)
|
rs187466318
|
0.00001
|
NM_024596.5(MCPH1):c.576C>T (p.Pro192=)
|
rs1803099137
|
0.00001
|
NM_024596.5(MCPH1):c.585C>A (p.Ser195=)
|
rs1338908640
|
0.00001
|
NM_024596.5(MCPH1):c.670+12A>T
|
rs540930467
|
0.00001
|
NM_024596.5(MCPH1):c.898A>G (p.Ile300Val)
|
rs587783743
|
0.00001
|
NM_024596.5(MCPH1):c.954T>C (p.Ala318=)
|
rs770723949
|
0.00001
|
NM_024596.5(MCPH1):c.975G>A (p.Thr325=)
|
rs556632758
|
0.00001
|
NM_024596.5(MCPH1):c.1005C>G (p.Thr335=)
|
|
|
NM_024596.5(MCPH1):c.1005C>T (p.Thr335=)
|
|
|
NM_024596.5(MCPH1):c.1014A>C (p.Ser338=)
|
|
|
NM_024596.5(MCPH1):c.1017A>G (p.Thr339=)
|
|
|
NM_024596.5(MCPH1):c.1026C>T (p.His342=)
|
rs200289785
|
|
NM_024596.5(MCPH1):c.1032G>A (p.Leu344=)
|
|
|
NM_024596.5(MCPH1):c.1038T>C (p.His346=)
|
|
|
NM_024596.5(MCPH1):c.1042A>C (p.Arg348=)
|
|
|
NM_024596.5(MCPH1):c.1050G>A (p.Arg350=)
|
|
|
NM_024596.5(MCPH1):c.1059A>G (p.Ser353=)
|
|
|
NM_024596.5(MCPH1):c.1065G>A (p.Lys355=)
|
|
|
NM_024596.5(MCPH1):c.1095A>C (p.Ser365=)
|
|
|
NM_024596.5(MCPH1):c.1101G>C (p.Pro367=)
|
|
|
NM_024596.5(MCPH1):c.111A>C (p.Ala37=)
|
|
|
NM_024596.5(MCPH1):c.1125G>A (p.Arg375=)
|
|
|
NM_024596.5(MCPH1):c.1134G>A (p.Arg378=)
|
|
|
NM_024596.5(MCPH1):c.114+10T>C
|
|
|
NM_024596.5(MCPH1):c.114+12A>G
|
|
|
NM_024596.5(MCPH1):c.114+13T>C
|
|
|
NM_024596.5(MCPH1):c.114+13T>G
|
|
|
NM_024596.5(MCPH1):c.114+18C>A
|
|
|
NM_024596.5(MCPH1):c.114+20G>T
|
|
|
NM_024596.5(MCPH1):c.114+7C>T
|
|
|
NM_024596.5(MCPH1):c.114+8A>G
|
|
|
NM_024596.5(MCPH1):c.114+8_114+9del
|
|
|
NM_024596.5(MCPH1):c.114+9C>G
|
|
|
NM_024596.5(MCPH1):c.1149G>A (p.Pro383=)
|
|
|
NM_024596.5(MCPH1):c.115-13A>G
|
|
|
NM_024596.5(MCPH1):c.115-15G>A
|
|
|
NM_024596.5(MCPH1):c.115-4A>G
|
|
|
NM_024596.5(MCPH1):c.115-5T>C
|
|
|
NM_024596.5(MCPH1):c.115-6C>T
|
|
|
NM_024596.5(MCPH1):c.1152G>A (p.Arg384=)
|
|
|
NM_024596.5(MCPH1):c.1155G>A (p.Leu385=)
|
|
|
NM_024596.5(MCPH1):c.1159C>T (p.Leu387=)
|
|
|
NM_024596.5(MCPH1):c.1164C>T (p.Cys388=)
|
|
|
NM_024596.5(MCPH1):c.1167G>A (p.Arg389=)
|
|
|
NM_024596.5(MCPH1):c.1170G>A (p.Ser390=)
|
|
|
NM_024596.5(MCPH1):c.1175_1176delinsGG (p.Asp392Gly)
|
|
|
NM_024596.5(MCPH1):c.1188C>T (p.His396=)
|
|
|
NM_024596.5(MCPH1):c.1191G>T (p.Val397=)
|
|
|
NM_024596.5(MCPH1):c.1194G>A (p.Ala398=)
|
|
|
NM_024596.5(MCPH1):c.1194G>C (p.Ala398=)
|
|
|
NM_024596.5(MCPH1):c.1194G>T (p.Ala398=)
|
|
|
NM_024596.5(MCPH1):c.1197A>C (p.Gly399=)
|
|
|
NM_024596.5(MCPH1):c.1197A>G (p.Gly399=)
|
|
|
NM_024596.5(MCPH1):c.120A>G (p.Ser40=)
|
|
|
NM_024596.5(MCPH1):c.1233A>C (p.Ser411=)
|
|
|
NM_024596.5(MCPH1):c.1239T>C (p.Asp413=)
|
|
|
NM_024596.5(MCPH1):c.1270A>C (p.Arg424=)
|
|
|
NM_024596.5(MCPH1):c.1275T>C (p.Tyr425=)
|
|
|
NM_024596.5(MCPH1):c.1296A>G (p.Glu432=)
|
|
|
NM_024596.5(MCPH1):c.1311A>C (p.Ser437=)
|
|
|
NM_024596.5(MCPH1):c.1314C>T (p.Ser438=)
|
|
|
NM_024596.5(MCPH1):c.1324T>C (p.Leu442=)
|
|
|
NM_024596.5(MCPH1):c.1326G>A (p.Leu442=)
|
|
|
NM_024596.5(MCPH1):c.1332C>T (p.Cys444=)
|
|
|
NM_024596.5(MCPH1):c.1341T>C (p.Leu447=)
|
|
|
NM_024596.5(MCPH1):c.1344T>A (p.Ser448=)
|
rs201825242
|
|
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)
|
rs202004426
|
|
NM_024596.5(MCPH1):c.1354A>C (p.Arg452=)
|
|
|
NM_024596.5(MCPH1):c.1359A>G (p.Thr453=)
|
|
|
NM_024596.5(MCPH1):c.135A>G (p.Lys45=)
|
|
|
NM_024596.5(MCPH1):c.1386C>G (p.Ser462=)
|
|
|
NM_024596.5(MCPH1):c.1386C>T (p.Ser462=)
|
|
|
NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)
|
rs548329168
|
|
NM_024596.5(MCPH1):c.1416C>T (p.Asp472=)
|
|
|
NM_024596.5(MCPH1):c.141A>T (p.Val47=)
|
|
|
NM_024596.5(MCPH1):c.1422C>G (p.Thr474=)
|
|
|
NM_024596.5(MCPH1):c.1434A>C (p.Ala478=)
|
|
|
NM_024596.5(MCPH1):c.1441A>T (p.Ile481Phe)
|
rs768776312
|
|
NM_024596.5(MCPH1):c.1453C>A (p.Arg485=)
|
|
|
NM_024596.5(MCPH1):c.1467T>C (p.Asn489=)
|
|
|
NM_024596.5(MCPH1):c.1476C>T (p.Gly492=)
|
|
|
NM_024596.5(MCPH1):c.147C>T (p.His49=)
|
|
|
NM_024596.5(MCPH1):c.1488G>A (p.Ser496=)
|
|
|
NM_024596.5(MCPH1):c.1488G>C (p.Ser496=)
|
|
|
NM_024596.5(MCPH1):c.1500T>A (p.Thr500=)
|
|
|
NM_024596.5(MCPH1):c.1500T>G (p.Thr500=)
|
|
|
NM_024596.5(MCPH1):c.1506C>G (p.Ala502=)
|
|
|
NM_024596.5(MCPH1):c.1509T>G (p.Pro503=)
|
|
|
NM_024596.5(MCPH1):c.1512A>G (p.Glu504=)
|
|
|
NM_024596.5(MCPH1):c.1519C>T (p.Leu507=)
|
|
|
NM_024596.5(MCPH1):c.1524G>A (p.Arg508=)
|
|
|
NM_024596.5(MCPH1):c.1527T>C (p.Cys509=)
|
|
|
NM_024596.5(MCPH1):c.153C>T (p.Ile51=)
|
|
|
NM_024596.5(MCPH1):c.1551C>T (p.Asp517=)
|
|
|
NM_024596.5(MCPH1):c.1554A>G (p.Ala518=)
|
|
|
NM_024596.5(MCPH1):c.1557C>T (p.Cys519=)
|
|
|
NM_024596.5(MCPH1):c.1560A>T (p.Pro520=)
|
|
|
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter)
|
rs572671721
|
|
NM_024596.5(MCPH1):c.156C>T (p.Phe52=)
|
|
|
NM_024596.5(MCPH1):c.1611A>G (p.Gly537=)
|
|
|
NM_024596.5(MCPH1):c.1614T>C (p.His538=)
|
|
|
NM_024596.5(MCPH1):c.1629T>A (p.Thr543=)
|
|
|
NM_024596.5(MCPH1):c.162T>C (p.Asp54=)
|
|
|
NM_024596.5(MCPH1):c.1647T>G (p.Leu549=)
|
|
|
NM_024596.5(MCPH1):c.1653A>G (p.Glu551=)
|
|
|
NM_024596.5(MCPH1):c.165C>G (p.Gly55=)
|
|
|
NM_024596.5(MCPH1):c.1662A>G (p.Glu554=)
|
|
|
NM_024596.5(MCPH1):c.1665G>A (p.Ala555=)
|
rs772338945
|
|
NM_024596.5(MCPH1):c.1672C>T (p.Leu558=)
|
|
|
NM_024596.5(MCPH1):c.1677A>G (p.Lys559=)
|
rs886063058
|
|
NM_024596.5(MCPH1):c.1704C>A (p.Ser568=)
|
|
|
NM_024596.5(MCPH1):c.1707A>G (p.Lys569=)
|
|
|
NM_024596.5(MCPH1):c.1728C>G (p.Gly576=)
|
|
|
NM_024596.5(MCPH1):c.1749G>A (p.Glu583=)
|
|
|
NM_024596.5(MCPH1):c.174C>T (p.Ser58=)
|
|
|
NM_024596.5(MCPH1):c.1764T>C (p.Val588=)
|
|
|
NM_024596.5(MCPH1):c.1770T>C (p.Cys590=)
|
|
|
NM_024596.5(MCPH1):c.177T>C (p.Thr59=)
|
|
|
NM_024596.5(MCPH1):c.1791A>G (p.Glu597=)
|
|
|
NM_024596.5(MCPH1):c.1800A>G (p.Glu600=)
|
|
|
NM_024596.5(MCPH1):c.1809C>G (p.Pro603=)
|
|
|
NM_024596.5(MCPH1):c.1825+11C>T
|
|
|
NM_024596.5(MCPH1):c.1825+15T>C
|
|
|
NM_024596.5(MCPH1):c.1825+16T>C
|
|
|
NM_024596.5(MCPH1):c.1825+19C>G
|
|
|
NM_024596.5(MCPH1):c.1826-12C>G
|
|
|
NM_024596.5(MCPH1):c.1826-15C>A
|
|
|
NM_024596.5(MCPH1):c.1826-17A>G
|
|
|
NM_024596.5(MCPH1):c.1830T>C (p.Val610=)
|
|
|
NM_024596.5(MCPH1):c.1836T>C (p.Asn612=)
|
|
|
NM_024596.5(MCPH1):c.183C>T (p.Asp61=)
|
|
|
NM_024596.5(MCPH1):c.1875C>T (p.Asp625=)
|
|
|
NM_024596.5(MCPH1):c.1878C>G (p.Gly626=)
|
|
|
NM_024596.5(MCPH1):c.1893C>A (p.Ile631=)
|
|
|
NM_024596.5(MCPH1):c.1898C>T (p.Pro633Leu)
|
|
|
NM_024596.5(MCPH1):c.189T>A (p.Ala63=)
|
|
|
NM_024596.5(MCPH1):c.18G>A (p.Leu6=)
|
|
|
NM_024596.5(MCPH1):c.18G>C (p.Leu6=)
|
|
|
NM_024596.5(MCPH1):c.1920T>C (p.Ser640=)
|
|
|
NM_024596.5(MCPH1):c.1929C>T (p.Gly643=)
|
rs2129556811
|
|
NM_024596.5(MCPH1):c.1935+7G>A
|
|
|
NM_024596.5(MCPH1):c.1935+8T>G
|
|
|
NM_024596.5(MCPH1):c.1936-12del
|
|
|
NM_024596.5(MCPH1):c.1936-15G>A
|
|
|
NM_024596.5(MCPH1):c.1936-15G>C
|
|
|
NM_024596.5(MCPH1):c.1936-16T>G
|
|
|
NM_024596.5(MCPH1):c.1936-4C>G
|
|
|
NM_024596.5(MCPH1):c.1936-4C>T
|
|
|
NM_024596.5(MCPH1):c.1938A>T (p.Pro646=)
|
|
|
NM_024596.5(MCPH1):c.1944A>G (p.Arg648=)
|
|
|
NM_024596.5(MCPH1):c.1947A>G (p.Thr649=)
|
|
|
NM_024596.5(MCPH1):c.1950A>G (p.Leu650=)
|
|
|
NM_024596.5(MCPH1):c.1953C>G (p.Val651=)
|
|
|
NM_024596.5(MCPH1):c.1953C>T (p.Val651=)
|
|
|
NM_024596.5(MCPH1):c.1968A>G (p.Pro656=)
|
|
|
NM_024596.5(MCPH1):c.1973+16G>C
|
|
|
NM_024596.5(MCPH1):c.1973+17A>G
|
|
|
NM_024596.5(MCPH1):c.1973+19T>C
|
|
|
NM_024596.5(MCPH1):c.1974-10G>A
|
rs762333683
|
|
NM_024596.5(MCPH1):c.1974-10G>C
|
|
|
NM_024596.5(MCPH1):c.1974-10G>T
|
|
|
NM_024596.5(MCPH1):c.1974-11C>G
|
|
|
NM_024596.5(MCPH1):c.1974-11C>T
|
|
|
NM_024596.5(MCPH1):c.1974-13C>G
|
|
|
NM_024596.5(MCPH1):c.1974-15C>T
|
|
|
NM_024596.5(MCPH1):c.1974-19T>A
|
|
|
NM_024596.5(MCPH1):c.1974-4A>G
|
|
|
NM_024596.5(MCPH1):c.1974-7T>A
|
|
|
NM_024596.5(MCPH1):c.1986C>G (p.Val662=)
|
rs754730567
|
|
NM_024596.5(MCPH1):c.1986C>T (p.Val662=)
|
|
|
NM_024596.5(MCPH1):c.1992C>A (p.Ile664=)
|
|
|
NM_024596.5(MCPH1):c.1998T>C (p.Val666=)
|
|
|
NM_024596.5(MCPH1):c.2016C>G (p.Gly672=)
|
|
|
NM_024596.5(MCPH1):c.201C>T (p.Gly67=)
|
|
|
NM_024596.5(MCPH1):c.2031A>G (p.Pro677=)
|
|
|
NM_024596.5(MCPH1):c.2034C>T (p.Asp678=)
|
|
|
NM_024596.5(MCPH1):c.2037C>G (p.Val679=)
|
|
|
NM_024596.5(MCPH1):c.2046C>T (p.Thr682=)
|
|
|
NM_024596.5(MCPH1):c.2049G>A (p.Thr683=)
|
|
|
NM_024596.5(MCPH1):c.204A>G (p.Val68=)
|
|
|
NM_024596.5(MCPH1):c.2055C>T (p.His685=)
|
|
|
NM_024596.5(MCPH1):c.2058G>A (p.Val686=)
|
|
|
NM_024596.5(MCPH1):c.2064C>G (p.Ser688=)
|
|
|
NM_024596.5(MCPH1):c.2067G>A (p.Gly689=)
|
|
|
NM_024596.5(MCPH1):c.2073A>G (p.Pro691=)
|
|
|
NM_024596.5(MCPH1):c.2076T>G (p.Leu692=)
|
|
|
NM_024596.5(MCPH1):c.2082C>G (p.Thr694=)
|
|
|
NM_024596.5(MCPH1):c.2085G>C (p.Leu695=)
|
rs771162185
|
|
NM_024596.5(MCPH1):c.2091G>A (p.Val697=)
|
|
|
NM_024596.5(MCPH1):c.2092C>T (p.Leu698=)
|
|
|
NM_024596.5(MCPH1):c.2094G>A (p.Leu698=)
|
|
|
NM_024596.5(MCPH1):c.2095C>T (p.Leu699=)
|
|
|
NM_024596.5(MCPH1):c.2112C>A (p.Gly704=)
|
|
|
NM_024596.5(MCPH1):c.2112C>G (p.Gly704=)
|
|
|
NM_024596.5(MCPH1):c.2112C>T (p.Gly704=)
|
|
|
NM_024596.5(MCPH1):c.2124C>G (p.Leu708=)
|
|
|
NM_024596.5(MCPH1):c.2130T>C (p.Tyr710=)
|
|
|
NM_024596.5(MCPH1):c.2136+10G>A
|
|
|
NM_024596.5(MCPH1):c.2136+15T>C
|
|
|
NM_024596.5(MCPH1):c.2136+16G>T
|
rs1437857424
|
|
NM_024596.5(MCPH1):c.2136+18A>G
|
|
|
NM_024596.5(MCPH1):c.2136+19C>T
|
|
|
NM_024596.5(MCPH1):c.2136+20T>A
|
|
|
NM_024596.5(MCPH1):c.2136+20T>G
|
|
|
NM_024596.5(MCPH1):c.2136+228A>G
|
rs140616360
|
|
NM_024596.5(MCPH1):c.2136+8C>A
|
|
|
NM_024596.5(MCPH1):c.216G>A (p.Ser72=)
|
rs775942126
|
|
NM_024596.5(MCPH1):c.216G>C (p.Ser72=)
|
rs775942126
|
|
NM_024596.5(MCPH1):c.219G>T (p.Val73=)
|
|
|
NM_024596.5(MCPH1):c.22+10T>C
|
|
|
NM_024596.5(MCPH1):c.22+13C>T
|
|
|
NM_024596.5(MCPH1):c.22+18G>A
|
|
|
NM_024596.5(MCPH1):c.22+19C>T
|
|
|
NM_024596.5(MCPH1):c.22+8A>G
|
|
|
NM_024596.5(MCPH1):c.2215-12_2215-9del
|
|
|
NM_024596.5(MCPH1):c.2215-13G>A
|
|
|
NM_024596.5(MCPH1):c.2215-14T>C
|
|
|
NM_024596.5(MCPH1):c.2215-15C>T
|
|
|
NM_024596.5(MCPH1):c.2215-15_2215-14del
|
|
|
NM_024596.5(MCPH1):c.2215-17C>G
|
|
|
NM_024596.5(MCPH1):c.2215-19A>C
|
|
|
NM_024596.5(MCPH1):c.2215-19_2215-16del
|
|
|
NM_024596.5(MCPH1):c.2215-19_2215-18del
|
|
|
NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC
|
rs2129580718
|
|
NM_024596.5(MCPH1):c.2215-20T>C
|
|
|
NM_024596.5(MCPH1):c.2215-20_2215-19delinsCG
|
rs2129580717
|
|
NM_024596.5(MCPH1):c.2223A>G (p.Arg741=)
|
|
|
NM_024596.5(MCPH1):c.222C>G (p.Leu74=)
|
|
|
NM_024596.5(MCPH1):c.2244A>C (p.Ala748=)
|
|
|
NM_024596.5(MCPH1):c.2247G>A (p.Gly749=)
|
|
|
NM_024596.5(MCPH1):c.2250G>A (p.Pro750=)
|
|
|
NM_024596.5(MCPH1):c.2256C>G (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2256C>T (p.Arg752=)
|
rs35999761
|
|
NM_024596.5(MCPH1):c.2265C>G (p.Leu755=)
|
|
|
NM_024596.5(MCPH1):c.2268T>C (p.Phe756=)
|
|
|
NM_024596.5(MCPH1):c.2271C>T (p.Ala757=)
|
|
|
NM_024596.5(MCPH1):c.2282_2283delinsTA (p.Ala761Val)
|
|
|
NM_024596.5(MCPH1):c.2283G>A (p.Ala761=)
|
|
|
NM_024596.5(MCPH1):c.2292C>T (p.Val764=)
|
|
|
NM_024596.5(MCPH1):c.23-10_23-9del
|
|
|
NM_024596.5(MCPH1):c.23-11C>G
|
|
|
NM_024596.5(MCPH1):c.23-20T>C
|
|
|
NM_024596.5(MCPH1):c.23-233G>C
|
rs148784485
|
|
NM_024596.5(MCPH1):c.23-4T>C
|
|
|
NM_024596.5(MCPH1):c.23-8G>C
|
|
|
NM_024596.5(MCPH1):c.23-8_23-5dup
|
|
|
NM_024596.5(MCPH1):c.2307C>T (p.Ser769=)
|
|
|
NM_024596.5(MCPH1):c.2310C>T (p.Pro770=)
|
|
|
NM_024596.5(MCPH1):c.2322G>A (p.Lys774=)
|
|
|
NM_024596.5(MCPH1):c.2325C>G (p.Leu775=)
|
|
|
NM_024596.5(MCPH1):c.233+11TC[2]
|
|
|
NM_024596.5(MCPH1):c.233+12C>G
|
|
|
NM_024596.5(MCPH1):c.233+14C>G
|
|
|
NM_024596.5(MCPH1):c.233+14_233+17del
|
|
|
NM_024596.5(MCPH1):c.233+16C>G
|
|
|
NM_024596.5(MCPH1):c.233+16C>T
|
|
|
NM_024596.5(MCPH1):c.233+19A>C
|
|
|
NM_024596.5(MCPH1):c.233+20C>G
|
|
|
NM_024596.5(MCPH1):c.233+8G>C
|
|
|
NM_024596.5(MCPH1):c.233+8G>T
|
|
|
NM_024596.5(MCPH1):c.233+9T>G
|
|
|
NM_024596.5(MCPH1):c.2332C>T (p.Leu778=)
|
|
|
NM_024596.5(MCPH1):c.2337C>T (p.Val779=)
|
|
|
NM_024596.5(MCPH1):c.234-10A>C
|
|
|
NM_024596.5(MCPH1):c.234-19C>T
|
|
|
NM_024596.5(MCPH1):c.234-4A>G
|
|
|
NM_024596.5(MCPH1):c.234-6A>G
|
|
|
NM_024596.5(MCPH1):c.234-6A>T
|
|
|
NM_024596.5(MCPH1):c.2341C>T (p.Leu781=)
|
rs577592270
|
|
NM_024596.5(MCPH1):c.2343G>A (p.Leu781=)
|
|
|
NM_024596.5(MCPH1):c.2353C>A (p.Arg785=)
|
|
|
NM_024596.5(MCPH1):c.2358C>A (p.Val786=)
|
rs2129580759
|
|
NM_024596.5(MCPH1):c.2358C>T (p.Val786=)
|
|
|
NM_024596.5(MCPH1):c.2361C>T (p.Ser787=)
|
|
|
NM_024596.5(MCPH1):c.2367C>A (p.Val789=)
|
|
|
NM_024596.5(MCPH1):c.2367C>G (p.Val789=)
|
|
|
NM_024596.5(MCPH1):c.2370C>T (p.Pro790=)
|
rs1586835998
|
|
NM_024596.5(MCPH1):c.2379C>T (p.Ala793=)
|
|
|
NM_024596.5(MCPH1):c.2385C>T (p.Ile795=)
|
|
|
NM_024596.5(MCPH1):c.2388C>T (p.Val796=)
|
|
|
NM_024596.5(MCPH1):c.2391C>T (p.Ile797=)
|
|
|
NM_024596.5(MCPH1):c.2397C>A (p.Pro799=)
|
|
|
NM_024596.5(MCPH1):c.2397C>G (p.Pro799=)
|
|
|
NM_024596.5(MCPH1):c.2403C>T (p.Ser801=)
|
|
|
NM_024596.5(MCPH1):c.2409G>A (p.Lys803=)
|
|
|
NM_024596.5(MCPH1):c.240G>A (p.Arg80=)
|
|
|
NM_024596.5(MCPH1):c.2418C>G (p.Ala806=)
|
|
|
NM_024596.5(MCPH1):c.2421A>G (p.Thr807=)
|
|
|
NM_024596.5(MCPH1):c.2427G>A (p.Lys809=)
|
|
|
NM_024596.5(MCPH1):c.2430T>C (p.Tyr810=)
|
|
|
NM_024596.5(MCPH1):c.2436T>C (p.Ser812=)
|
|
|
NM_024596.5(MCPH1):c.2436T>G (p.Ser812=)
|
|
|
NM_024596.5(MCPH1):c.2452+10C>T
|
|
|
NM_024596.5(MCPH1):c.2452+11A>C
|
|
|
NM_024596.5(MCPH1):c.2452+14C>A
|
|
|
NM_024596.5(MCPH1):c.2452+14CA[2]
|
|
|
NM_024596.5(MCPH1):c.2452+176C>G
|
|
|
NM_024596.5(MCPH1):c.2452+17A>G
|
|
|
NM_024596.5(MCPH1):c.2452+4309G>A
|
|
|
NM_024596.5(MCPH1):c.2452+7del
|
|
|
NM_024596.5(MCPH1):c.2453-10C>G
|
|
|
NM_024596.5(MCPH1):c.2453-12CT[6]
|
|
|
NM_024596.5(MCPH1):c.2453-17T>C
|
|
|
NM_024596.5(MCPH1):c.2453-19C>T
|
|
|
NM_024596.5(MCPH1):c.2453-271C>A
|
rs2433148
|
|
NM_024596.5(MCPH1):c.2453-4C>A
|
|
|
NM_024596.5(MCPH1):c.2453-4C>G
|
|
|
NM_024596.5(MCPH1):c.2453-5080C>G
|
|
|
NM_024596.5(MCPH1):c.2460C>T (p.Ile820=)
|
|
|
NM_024596.5(MCPH1):c.2463C>T (p.Thr821=)
|
|
|
NM_024596.5(MCPH1):c.246T>G (p.Ala82=)
|
|
|
NM_024596.5(MCPH1):c.2472G>A (p.Lys824=)
|
|
|
NM_024596.5(MCPH1):c.2484T>G (p.Pro828=)
|
|
|
NM_024596.5(MCPH1):c.2487A>C (p.Glu829Asp)
|
rs587783740
|
|
NM_024596.5(MCPH1):c.2490C>T (p.Asn830=)
|
|
|
NM_024596.5(MCPH1):c.2494C>T (p.Leu832=)
|
|
|
NM_024596.5(MCPH1):c.2496A>G (p.Leu832=)
|
|
|
NM_024596.5(MCPH1):c.2497T>C (p.Leu833=)
|
|
|
NM_024596.5(MCPH1):c.2499G>A (p.Leu833=)
|
|
|
NM_024596.5(MCPH1):c.2502A>C (p.Ser834=)
|
|
|
NM_024596.5(MCPH1):c.252A>G (p.Ala84=)
|
|
|
NM_024596.5(MCPH1):c.258T>C (p.Ile86=)
|
|
|
NM_024596.5(MCPH1):c.279A>G (p.Ala93=)
|
rs759764698
|
|
NM_024596.5(MCPH1):c.279A>T (p.Ala93=)
|
|
|
NM_024596.5(MCPH1):c.27A>G (p.Val9=)
|
|
|
NM_024596.5(MCPH1):c.294A>G (p.Glu98=)
|
|
|
NM_024596.5(MCPH1):c.305G>C (p.Ser102Thr)
|
rs2290145
|
|
NM_024596.5(MCPH1):c.321+12A>T
|
|
|
NM_024596.5(MCPH1):c.321+18A>G
|
|
|
NM_024596.5(MCPH1):c.321+20G>T
|
|
|
NM_024596.5(MCPH1):c.321+8C>T
|
|
|
NM_024596.5(MCPH1):c.321+9A>C
|
|
|
NM_024596.5(MCPH1):c.321+9A>G
|
|
|
NM_024596.5(MCPH1):c.322-10T>C
|
|
|
NM_024596.5(MCPH1):c.322-12_322-10del
|
|
|
NM_024596.5(MCPH1):c.322-12_322-11del
|
|
|
NM_024596.5(MCPH1):c.322-13T>C
|
|
|
NM_024596.5(MCPH1):c.322-13dup
|
|
|
NM_024596.5(MCPH1):c.322-14T>C
|
|
|
NM_024596.5(MCPH1):c.322-17G>A
|
|
|
NM_024596.5(MCPH1):c.322-17G>C
|
rs147245957
|
|
NM_024596.5(MCPH1):c.322-18T>A
|
|
|
NM_024596.5(MCPH1):c.322-19T>C
|
|
|
NM_024596.5(MCPH1):c.322-291G>T
|
rs138429838
|
|
NM_024596.5(MCPH1):c.327A>G (p.Lys109=)
|
|
|
NM_024596.5(MCPH1):c.33C>G (p.Ala11=)
|
|
|
NM_024596.5(MCPH1):c.366A>G (p.Glu122=)
|
|
|
NM_024596.5(MCPH1):c.369T>C (p.Asn123=)
|
|
|
NM_024596.5(MCPH1):c.36T>C (p.Tyr12=)
|
|
|
NM_024596.5(MCPH1):c.414A>G (p.Leu138=)
|
|
|
NM_024596.5(MCPH1):c.423A>G (p.Gln141=)
|
|
|
NM_024596.5(MCPH1):c.432T>C (p.Asn144=)
|
rs891865529
|
|
NM_024596.5(MCPH1):c.433C>T (p.Leu145=)
|
rs139607465
|
|
NM_024596.5(MCPH1):c.436+10G>T
|
|
|
NM_024596.5(MCPH1):c.436+13A>G
|
|
|
NM_024596.5(MCPH1):c.436+15A>G
|
|
|
NM_024596.5(MCPH1):c.436+18A>G
|
|
|
NM_024596.5(MCPH1):c.436+20A>G
|
|
|
NM_024596.5(MCPH1):c.437-12G>A
|
|
|
NM_024596.5(MCPH1):c.437-12G>C
|
|
|
NM_024596.5(MCPH1):c.437-12_437-9del
|
rs773256253
|
|
NM_024596.5(MCPH1):c.437-19A>G
|
|
|
NM_024596.5(MCPH1):c.437-19A>T
|
|
|
NM_024596.5(MCPH1):c.437-20G>T
|
|
|
NM_024596.5(MCPH1):c.437-4T>C
|
|
|
NM_024596.5(MCPH1):c.441T>C (p.Asp147=)
|
|
|
NM_024596.5(MCPH1):c.456C>T (p.Leu152=)
|
|
|
NM_024596.5(MCPH1):c.457T>C (p.Leu153=)
|
|
|
NM_024596.5(MCPH1):c.45G>T (p.Val15=)
|
|
|
NM_024596.5(MCPH1):c.477A>C (p.Ser159=)
|
rs41313948
|
|
NM_024596.5(MCPH1):c.486T>C (p.Tyr162=)
|
|
|
NM_024596.5(MCPH1):c.510T>C (p.Ser170=)
|
|
|
NM_024596.5(MCPH1):c.522C>T (p.Ser174=)
|
|
|
NM_024596.5(MCPH1):c.525A>C (p.Ala175=)
|
|
|
NM_024596.5(MCPH1):c.543A>G (p.Gln181=)
|
|
|
NM_024596.5(MCPH1):c.54C>G (p.Ser18=)
|
|
|
NM_024596.5(MCPH1):c.54C>T (p.Ser18=)
|
|
|
NM_024596.5(MCPH1):c.552G>A (p.Lys184=)
|
|
|
NM_024596.5(MCPH1):c.558A>G (p.Lys186=)
|
|
|
NM_024596.5(MCPH1):c.561G>A (p.Arg187=)
|
|
|
NM_024596.5(MCPH1):c.567T>C (p.Asn189=)
|
|
|
NM_024596.5(MCPH1):c.576C>G (p.Pro192=)
|
|
|
NM_024596.5(MCPH1):c.580+12G>A
|
|
|
NM_024596.5(MCPH1):c.580+16G>T
|
|
|
NM_024596.5(MCPH1):c.580+17T>A
|
|
|
NM_024596.5(MCPH1):c.580+17T>C
|
|
|
NM_024596.5(MCPH1):c.580+19A>C
|
|
|
NM_024596.5(MCPH1):c.580+276dup
|
rs201822930
|
|
NM_024596.5(MCPH1):c.580+284_580+285dup
|
rs34298347
|
|
NM_024596.5(MCPH1):c.580+8_580+11del
|
|
|
NM_024596.5(MCPH1):c.581-11C>A
|
|
|
NM_024596.5(MCPH1):c.581-13G>T
|
|
|
NM_024596.5(MCPH1):c.581-14G>T
|
|
|
NM_024596.5(MCPH1):c.581-17C>G
|
|
|
NM_024596.5(MCPH1):c.581-29C>A
|
rs140161935
|
|
NM_024596.5(MCPH1):c.581-7T>C
|
|
|
NM_024596.5(MCPH1):c.581-8G>C
|
|
|
NM_024596.5(MCPH1):c.597G>A (p.Gln199=)
|
|
|
NM_024596.5(MCPH1):c.627G>A (p.Leu209=)
|
rs375026958
|
|
NM_024596.5(MCPH1):c.627G>T (p.Leu209=)
|
|
|
NM_024596.5(MCPH1):c.633A>G (p.Glu211=)
|
|
|
NM_024596.5(MCPH1):c.639T>G (p.Pro213=)
|
|
|
NM_024596.5(MCPH1):c.670+12A>C
|
|
|
NM_024596.5(MCPH1):c.670+12A>G
|
|
|
NM_024596.5(MCPH1):c.670+3_670+19dup
|
rs1441683402
|
|
NM_024596.5(MCPH1):c.671-15G>A
|
|
|
NM_024596.5(MCPH1):c.671-16C>T
|
|
|
NM_024596.5(MCPH1):c.671-17C>T
|
|
|
NM_024596.5(MCPH1):c.671-20T>C
|
|
|
NM_024596.5(MCPH1):c.671-7T>G
|
|
|
NM_024596.5(MCPH1):c.678C>T (p.Tyr226=)
|
|
|
NM_024596.5(MCPH1):c.681T>C (p.Phe227=)
|
|
|
NM_024596.5(MCPH1):c.696C>T (p.His232=)
|
|
|
NM_024596.5(MCPH1):c.6G>A (p.Ala2=)
|
|
|
NM_024596.5(MCPH1):c.72T>C (p.Tyr24=)
|
|
|
NM_024596.5(MCPH1):c.741G>A (p.Gln247=)
|
|
|
NM_024596.5(MCPH1):c.759A>G (p.Gly253=)
|
|
|
NM_024596.5(MCPH1):c.771C>T (p.Asp257=)
|
|
|
NM_024596.5(MCPH1):c.783T>C (p.Asp261=)
|
|
|
NM_024596.5(MCPH1):c.805T>C (p.Leu269=)
|
|
|
NM_024596.5(MCPH1):c.81A>C (p.Thr27=)
|
|
|
NM_024596.5(MCPH1):c.828A>G (p.Ser276=)
|
|
|
NM_024596.5(MCPH1):c.834A>G (p.Pro278=)
|
|
|
NM_024596.5(MCPH1):c.843T>C (p.Thr281=)
|
|
|
NM_024596.5(MCPH1):c.849C>T (p.Leu283=)
|
|
|
NM_024596.5(MCPH1):c.876G>T (p.Leu292=)
|
|
|
NM_024596.5(MCPH1):c.87A>C (p.Thr29=)
|
|
|
NM_024596.5(MCPH1):c.906G>A (p.Leu302=)
|
|
|
NM_024596.5(MCPH1):c.90A>T (p.Thr30=)
|
|
|
NM_024596.5(MCPH1):c.921A>G (p.Ala307=)
|
|
|
NM_024596.5(MCPH1):c.924T>C (p.Gly308=)
|
|
|
NM_024596.5(MCPH1):c.942C>T (p.Asp314=)
|
|
|
NM_024596.5(MCPH1):c.954T>G (p.Ala318=)
|
|
|
NM_024596.5(MCPH1):c.957A>G (p.Ala319=)
|
|
|
NM_024596.5(MCPH1):c.969G>A (p.Gln323=)
|
|
|
NM_024596.5(MCPH1):c.987G>A (p.Lys329=)
|
|
|
NM_024596.5(MCPH1):c.999T>G (p.Ser333=)
|
|
|
NM_024596.5(MCPH1):c.99G>A (p.Val33=)
|
|
|
NM_024596.5(MCPH1):c.9C>G (p.Ala3=)
|
|
|
NM_024596.5(MCPH1):c.9C>T (p.Ala3=)
|
|
|