NM_002225.5(IVD):c.*2630G>A
|
rs28654574
|
0.00497
|
NM_002225.5(IVD):c.*131G>A
|
rs190115786
|
0.00135
|
NM_002225.5(IVD):c.*1240T>A
|
rs146819701
|
0.00099
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
NM_002225.5(IVD):c.*290dup
|
rs529793013
|
0.00067
|
NM_002225.5(IVD):c.*1005T>C
|
rs560096869
|
0.00031
|
NM_002225.5(IVD):c.*287C>T
|
rs565064447
|
0.00031
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
NM_002225.5(IVD):c.*805G>A
|
rs183425220
|
0.00019
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
NM_002225.5(IVD):c.*1313C>G
|
rs550652153
|
0.00014
|
NM_002225.5(IVD):c.*1839C>G
|
rs186670312
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_002225.5(IVD):c.*566A>T
|
rs549510775
|
0.00013
|
NM_002225.5(IVD):c.*2001G>A
|
rs185013442
|
0.00011
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002225.5(IVD):c.*123G>A
|
rs536728525
|
0.00009
|
NM_002225.5(IVD):c.*2205C>T
|
rs185128282
|
0.00009
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_002225.5(IVD):c.*1172C>T
|
rs532691940
|
0.00005
|
NM_002225.5(IVD):c.*1884G>A
|
rs1325854341
|
0.00005
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
NM_002225.5(IVD):c.*338G>A
|
rs879231133
|
0.00004
|
NM_002225.5(IVD):c.*611T>G
|
rs886051130
|
0.00004
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
NM_002225.3(IVD):c.-237G>C
|
rs749128466
|
0.00003
|
NM_002225.5(IVD):c.*699G>A
|
rs1039225701
|
0.00003
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
0.00003
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
NM_002225.5(IVD):c.*112G>T
|
rs558721558
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_002225.3(IVD):c.-315C>G
|
rs886051126
|
0.00001
|
NM_002225.5(IVD):c.*1090A>G
|
rs1257277262
|
0.00001
|
NM_002225.5(IVD):c.*1117G>A
|
rs886051132
|
0.00001
|
NM_002225.5(IVD):c.*1636G>A
|
rs560135738
|
0.00001
|
NM_002225.5(IVD):c.*196G>A
|
rs1417892978
|
0.00001
|
NM_002225.5(IVD):c.*2005G>A
|
rs886051135
|
0.00001
|
NM_002225.5(IVD):c.*204T>G
|
rs886051127
|
0.00001
|
NM_002225.5(IVD):c.*652C>T
|
rs761306144
|
0.00001
|
NM_002225.5(IVD):c.*798A>G
|
rs1278287842
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg)
|
rs398123680
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
|
rs758926864
|
0.00001
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
NM_002225.5(IVD):c.539C>T (p.Ala180Val)
|
rs559732306
|
0.00001
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
NM_002225.5(IVD):c.803A>G (p.His268Arg)
|
rs201778625
|
0.00001
|
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
|
rs746615207
|
0.00001
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
NM_002225.5(IVD):c.*1213A>T
|
rs886051133
|
|
NM_002225.5(IVD):c.*1245C>T
|
rs974616361
|
|
NM_002225.5(IVD):c.*1898G>A
|
rs886051134
|
|
NM_002225.5(IVD):c.*1944C>T
|
rs910131258
|
|
NM_002225.5(IVD):c.*1984G>C
|
rs969539454
|
|
NM_002225.5(IVD):c.*2125A>C
|
rs1048450160
|
|
NM_002225.5(IVD):c.*2302G>A
|
rs886051136
|
|
NM_002225.5(IVD):c.*2389C>T
|
rs1892216503
|
|
NM_002225.5(IVD):c.*2494C>G
|
rs781683880
|
|
NM_002225.5(IVD):c.*2494C>T
|
rs781683880
|
|
NM_002225.5(IVD):c.*2883T>A
|
rs181699798
|
|
NM_002225.5(IVD):c.*2960C>T
|
rs926243484
|
|
NM_002225.5(IVD):c.*3036A>C
|
rs913379191
|
|
NM_002225.5(IVD):c.*566A>G
|
rs549510775
|
|
NM_002225.5(IVD):c.*568A>T
|
rs1891996350
|
|
NM_002225.5(IVD):c.*787T>C
|
rs1892021365
|
|
NM_002225.5(IVD):c.*809G>A
|
rs886051131
|
|
NM_002225.5(IVD):c.*822G>T
|
rs373923824
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
NM_002225.5(IVD):c.1138+3_1138+14del
|
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
|
|
|
NM_002225.5(IVD):c.1196T>A (p.Leu399Gln)
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
|
rs1890355492
|
|
NM_002225.5(IVD):c.137A>T (p.Gln46Leu)
|
rs1890355492
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
NM_002225.5(IVD):c.145C>A (p.Leu49Ile)
|
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
NM_002225.5(IVD):c.379G>C (p.Gly127Arg)
|
rs754570116
|
|
NM_002225.5(IVD):c.380G>T (p.Gly127Val)
|
rs1195537609
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
NM_002225.5(IVD):c.437A>G (p.Lys146Arg)
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.475A>G (p.Ile159Val)
|
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
NM_002225.5(IVD):c.504T>G (p.Asn168Lys)
|
|
|
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)
|
rs1566936030
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
NM_002225.5(IVD):c.607G>C (p.Asp203His)
|
rs2141331313
|
|
NM_002225.5(IVD):c.60G>T (p.Pro20=)
|
rs1482549847
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
NM_002225.5(IVD):c.667A>G (p.Thr223Ala)
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
NM_002225.5(IVD):c.785-20A>G
|
rs727503970
|
|
NM_002225.5(IVD):c.813G>A (p.Lys271=)
|
rs767825575
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002225.5(IVD):c.823G>A (p.Val275Met)
|
rs757832700
|
|
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
|
rs757832700
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
NM_002225.5(IVD):c.860T>C (p.Leu287Pro)
|
|
|
NM_002225.5(IVD):c.863C>T (p.Ala288Val)
|
rs886042098
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
NM_002225.5(IVD):c.889G>A (p.Ala297Thr)
|
rs2141355228
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|