NM_133497.4(KCNV2):c.-42C>G
|
rs7029012
|
0.60151
|
NM_133497.4(KCNV2):c.183C>G (p.Gly61=)
|
rs10967705
|
0.59972
|
NM_133497.4(KCNV2):c.795C>G (p.Ala265=)
|
rs12237048
|
0.45225
|
NM_133497.4(KCNV2):c.-64T>G
|
rs11793555
|
0.16561
|
NM_133497.4(KCNV2):c.1597C>G (p.Leu533Val)
|
rs12352254
|
0.15512
|
NM_133497.4(KCNV2):c.*6T>C
|
rs41306094
|
0.10348
|
NM_133497.4(KCNV2):c.759A>G (p.Pro253=)
|
rs10967709
|
0.10241
|
NM_133497.4(KCNV2):c.*262T>A
|
rs57109373
|
0.08241
|
NM_133497.4(KCNV2):c.1386C>T (p.Asp462=)
|
rs41312842
|
0.06369
|
NM_133497.4(KCNV2):c.978C>T (p.Asp326=)
|
rs7860945
|
0.04812
|
NM_133497.4(KCNV2):c.915G>A (p.Val305=)
|
rs7859993
|
0.04465
|
NM_133497.4(KCNV2):c.*308T>G
|
rs60723920
|
0.01938
|
NM_133497.4(KCNV2):c.1616T>C (p.Leu539Pro)
|
rs112673841
|
0.01355
|
NM_133497.4(KCNV2):c.849G>A (p.Glu283=)
|
rs17656693
|
0.00801
|
NM_133497.4(KCNV2):c.1083A>G (p.Gln361=)
|
rs142744007
|
0.00709
|
NM_133497.4(KCNV2):c.676G>A (p.Val226Ile)
|
rs74587818
|
0.00669
|
NM_133497.4(KCNV2):c.854T>G (p.Met285Arg)
|
rs148050307
|
0.00652
|
NM_133497.4(KCNV2):c.312T>C (p.Gly104=)
|
rs150685794
|
0.00511
|
NM_133497.4(KCNV2):c.*184C>T
|
rs147633417
|
0.00410
|
NM_133497.4(KCNV2):c.144G>A (p.Glu48=)
|
rs79889344
|
0.00297
|
NM_133497.4(KCNV2):c.58G>A (p.Glu20Lys)
|
rs76776637
|
0.00254
|
NM_133497.4(KCNV2):c.291C>T (p.Ser97=)
|
rs113456345
|
0.00237
|
NM_133497.4(KCNV2):c.1308G>A (p.Val436=)
|
rs139581747
|
0.00225
|
NM_133497.4(KCNV2):c.1026C>T (p.Ala342=)
|
rs141789289
|
0.00222
|
NM_133497.4(KCNV2):c.*65T>A
|
rs183191721
|
0.00212
|
NM_133497.4(KCNV2):c.-2C>T
|
rs75316505
|
0.00207
|
NM_133497.4(KCNV2):c.1607A>G (p.Asn536Ser)
|
rs77811928
|
0.00165
|
NM_133497.4(KCNV2):c.-111C>T
|
rs188986938
|
0.00158
|
NM_133497.4(KCNV2):c.612G>A (p.Glu204=)
|
rs186159326
|
0.00123
|
NM_133497.4(KCNV2):c.207C>T (p.Asp69=)
|
rs141193056
|
0.00099
|
NM_133497.4(KCNV2):c.*170A>G
|
rs10967769
|
0.00094
|
NM_133497.4(KCNV2):c.121G>A (p.Ala41Thr)
|
rs148031263
|
0.00083
|
NM_133497.4(KCNV2):c.610G>A (p.Glu204Lys)
|
rs200983782
|
0.00083
|
NM_133497.4(KCNV2):c.828G>A (p.Ala276=)
|
rs144330480
|
0.00076
|
NM_133497.4(KCNV2):c.654C>T (p.His218=)
|
rs372007584
|
0.00073
|
NM_133497.4(KCNV2):c.991G>T (p.Ala331Ser)
|
rs545829113
|
0.00066
|
NM_133497.4(KCNV2):c.756G>A (p.Lys252=)
|
rs138861317
|
0.00063
|
NM_133497.4(KCNV2):c.920T>G (p.Met307Arg)
|
rs201074293
|
0.00054
|
NM_133497.4(KCNV2):c.1356+15C>T
|
rs201201478
|
0.00053
|
NM_133497.4(KCNV2):c.957G>A (p.Leu319=)
|
rs141378856
|
0.00053
|
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys)
|
rs146685593
|
0.00050
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
NM_133497.4(KCNV2):c.1355C>T (p.Ala452Val)
|
rs139767162
|
0.00043
|
NM_133497.4(KCNV2):c.16G>C (p.Glu6Gln)
|
rs143189186
|
0.00038
|
NM_133497.4(KCNV2):c.-69G>A
|
rs571461805
|
0.00036
|
NM_133497.4(KCNV2):c.1455C>T (p.Asn485=)
|
rs112479446
|
0.00035
|
NM_133497.4(KCNV2):c.645G>C (p.Lys215Asn)
|
rs201327014
|
0.00035
|
NM_133497.4(KCNV2):c.1148G>T (p.Arg383Leu)
|
rs141881396
|
0.00031
|
NM_133497.4(KCNV2):c.833C>T (p.Ala278Val)
|
rs140144634
|
0.00027
|
NM_133497.4(KCNV2):c.85A>G (p.Ser29Gly)
|
rs145394914
|
0.00026
|
NM_133497.4(KCNV2):c.-145T>C
|
rs528809457
|
0.00024
|
NM_133497.4(KCNV2):c.946G>C (p.Glu316Gln)
|
rs761886297
|
0.00024
|
NM_133497.4(KCNV2):c.1040A>T (p.Tyr347Phe)
|
rs530163400
|
0.00023
|
NM_133497.4(KCNV2):c.-36C>T
|
rs369580579
|
0.00019
|
NM_133497.4(KCNV2):c.1043T>C (p.Leu348Pro)
|
rs201425989
|
0.00016
|
NM_133497.4(KCNV2):c.1196C>T (p.Ala399Val)
|
rs200444639
|
0.00016
|
NM_133497.4(KCNV2):c.903C>T (p.Ile301=)
|
rs769997052
|
0.00016
|
NM_133497.4(KCNV2):c.1041C>T (p.Tyr347=)
|
rs763838984
|
0.00014
|
NM_133497.4(KCNV2):c.1191G>T (p.Leu397=)
|
rs367972852
|
0.00014
|
NM_133497.4(KCNV2):c.258C>G (p.Pro86=)
|
rs143109320
|
0.00014
|
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu)
|
rs146659188
|
0.00014
|
NM_133497.4(KCNV2):c.280G>A (p.Ala94Thr)
|
rs148550258
|
0.00012
|
NM_133497.4(KCNV2):c.1118G>C (p.Gly373Ala)
|
rs201564009
|
0.00011
|
NM_133497.4(KCNV2):c.1262G>A (p.Gly421Asp)
|
rs563513486
|
0.00011
|
NM_133497.4(KCNV2):c.1513G>T (p.Ala505Ser)
|
rs192224431
|
0.00011
|
NM_133497.4(KCNV2):c.245C>T (p.Thr82Ile)
|
rs370044423
|
0.00011
|
NM_133497.4(KCNV2):c.349G>A (p.Gly117Ser)
|
rs200353727
|
0.00011
|
NM_133497.4(KCNV2):c.168G>A (p.Glu56=)
|
rs201975160
|
0.00010
|
NM_133497.4(KCNV2):c.270C>T (p.Ser90=)
|
rs144755683
|
0.00009
|
NM_133497.4(KCNV2):c.1525A>G (p.Thr509Ala)
|
rs140745549
|
0.00008
|
NM_133497.4(KCNV2):c.642C>G (p.Leu214=)
|
rs368116327
|
0.00008
|
NM_133497.4(KCNV2):c.721C>T (p.Pro241Ser)
|
rs727503975
|
0.00008
|
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu)
|
rs757516625
|
0.00007
|
NM_133497.4(KCNV2):c.1162C>G (p.Leu388Val)
|
rs748514014
|
0.00007
|
NM_133497.4(KCNV2):c.159C>T (p.Tyr53=)
|
rs199694482
|
0.00007
|
NM_133497.4(KCNV2):c.430G>A (p.Glu144Lys)
|
rs777051584
|
0.00007
|
NM_133497.4(KCNV2):c.-19G>C
|
rs775888664
|
0.00006
|
NM_133497.4(KCNV2):c.-9T>C
|
rs773711302
|
0.00006
|
NM_133497.4(KCNV2):c.1344G>C (p.Trp448Cys)
|
rs143382624
|
0.00006
|
NM_133497.4(KCNV2):c.1413G>A (p.Arg471=)
|
rs552169822
|
0.00006
|
NM_133497.4(KCNV2):c.146G>A (p.Gly49Asp)
|
rs746448587
|
0.00006
|
NM_133497.4(KCNV2):c.164T>C (p.Ile55Thr)
|
rs541608166
|
0.00006
|
NM_133497.4(KCNV2):c.240G>A (p.Glu80=)
|
rs374187513
|
0.00006
|
NM_133497.4(KCNV2):c.539G>A (p.Arg180His)
|
rs750918937
|
0.00006
|
NM_133497.4(KCNV2):c.616C>A (p.Arg206=)
|
rs377471498
|
0.00006
|
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)
|
rs558295858
|
0.00006
|
NM_133497.4(KCNV2):c.731G>A (p.Arg244His)
|
rs1023306854
|
0.00006
|
NM_133497.4(KCNV2):c.922C>G (p.Leu308Val)
|
rs778517150
|
0.00006
|
NM_133497.4(KCNV2):c.107G>A (p.Arg36His)
|
rs201847891
|
0.00005
|
NM_133497.4(KCNV2):c.1282G>A (p.Ala428Thr)
|
rs142146344
|
0.00005
|
NM_133497.4(KCNV2):c.1497C>T (p.Tyr499=)
|
rs747466519
|
0.00005
|
NM_133497.4(KCNV2):c.420C>A (p.Asp140Glu)
|
rs886131960
|
0.00005
|
NM_133497.4(KCNV2):c.694C>A (p.Leu232Ile)
|
rs375426599
|
0.00005
|
NM_133497.4(KCNV2):c.706A>G (p.Met236Val)
|
rs375765488
|
0.00005
|
NM_133497.4(KCNV2):c.*131T>C
|
rs529212879
|
0.00004
|
NM_133497.4(KCNV2):c.-204A>C
|
rs886063816
|
0.00004
|
NM_133497.4(KCNV2):c.1299G>A (p.Glu433=)
|
rs759838750
|
0.00004
|
NM_133497.4(KCNV2):c.1380C>T (p.Tyr460=)
|
rs367634793
|
0.00004
|
NM_133497.4(KCNV2):c.145G>A (p.Gly49Ser)
|
rs777604507
|
0.00004
|
NM_133497.4(KCNV2):c.166G>A (p.Glu56Lys)
|
rs766443513
|
0.00004
|
NM_133497.4(KCNV2):c.180C>T (p.Asp60=)
|
rs1403529555
|
0.00004
|
NM_133497.4(KCNV2):c.182_183insGGA (p.Gly61_Glu62insAsp)
|
rs762687075
|
0.00004
|
NM_133497.4(KCNV2):c.201G>T (p.Trp67Cys)
|
rs771193813
|
0.00004
|
NM_133497.4(KCNV2):c.38A>G (p.Tyr13Cys)
|
rs774058342
|
0.00004
|
NM_133497.4(KCNV2):c.410G>A (p.Ser137Asn)
|
rs953979254
|
0.00004
|
NM_133497.4(KCNV2):c.432G>A (p.Glu144=)
|
rs530006522
|
0.00004
|
NM_133497.4(KCNV2):c.517C>A (p.Leu173Ile)
|
rs760750739
|
0.00004
|
NM_133497.4(KCNV2):c.523G>A (p.Gly175Arg)
|
rs766187569
|
0.00004
|
NM_133497.4(KCNV2):c.576C>G (p.Leu192=)
|
rs762082451
|
0.00004
|
NM_133497.4(KCNV2):c.580T>C (p.Tyr194His)
|
rs373342305
|
0.00004
|
NM_133497.4(KCNV2):c.594C>T (p.Cys198=)
|
rs1049754393
|
0.00004
|
NM_133497.4(KCNV2):c.703G>T (p.Asp235Tyr)
|
rs371445689
|
0.00004
|
NM_133497.4(KCNV2):c.820G>A (p.Val274Met)
|
rs754107665
|
0.00004
|
NM_133497.4(KCNV2):c.822G>A (p.Val274=)
|
rs149605734
|
0.00004
|
NM_133497.4(KCNV2):c.872A>C (p.Gln291Pro)
|
rs758417708
|
0.00004
|
NM_133497.4(KCNV2):c.97C>T (p.Leu33=)
|
rs886063819
|
0.00004
|
NM_133497.4(KCNV2):c.-6G>A
|
rs373371383
|
0.00003
|
NM_133497.4(KCNV2):c.-94A>T
|
rs943155660
|
0.00003
|
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=)
|
rs199886720
|
0.00003
|
NM_133497.4(KCNV2):c.1166A>C (p.Lys389Thr)
|
rs150231850
|
0.00003
|
NM_133497.4(KCNV2):c.1177C>A (p.His393Asn)
|
rs202139237
|
0.00003
|
NM_133497.4(KCNV2):c.136T>C (p.Trp46Arg)
|
rs140834504
|
0.00003
|
NM_133497.4(KCNV2):c.1371C>T (p.Thr457=)
|
rs752283303
|
0.00003
|
NM_133497.4(KCNV2):c.1384_1386del (p.Asp462del)
|
rs1414078352
|
0.00003
|
NM_133497.4(KCNV2):c.148A>C (p.Asn50His)
|
rs757537568
|
0.00003
|
NM_133497.4(KCNV2):c.1534C>T (p.Arg512Cys)
|
rs537588654
|
0.00003
|
NM_133497.4(KCNV2):c.160T>C (p.Tyr54His)
|
rs138656434
|
0.00003
|
NM_133497.4(KCNV2):c.357dup (p.Lys120fs)
|
rs1402837406
|
0.00003
|
NM_133497.4(KCNV2):c.369A>C (p.Leu123=)
|
rs1267844196
|
0.00003
|
NM_133497.4(KCNV2):c.398G>A (p.Ser133Asn)
|
rs199735148
|
0.00003
|
NM_133497.4(KCNV2):c.656A>G (p.Glu219Gly)
|
rs778833627
|
0.00003
|
NM_133497.4(KCNV2):c.666G>C (p.Ala222=)
|
rs746837965
|
0.00003
|
NM_133497.4(KCNV2):c.684G>A (p.Glu228=)
|
rs1011123387
|
0.00003
|
NM_133497.4(KCNV2):c.719G>A (p.Gly240Asp)
|
rs759416842
|
0.00003
|
NM_133497.4(KCNV2):c.769G>A (p.Val257Met)
|
rs752669658
|
0.00003
|
NM_133497.4(KCNV2):c.778A>T (p.Lys260Ter)
|
rs139027297
|
0.00003
|
NM_133497.4(KCNV2):c.827C>T (p.Ala276Val)
|
rs199923365
|
0.00003
|
NM_133497.4(KCNV2):c.882C>T (p.Gly294=)
|
rs750779235
|
0.00003
|
NM_133497.4(KCNV2):c.885C>T (p.Gly295=)
|
rs748776845
|
0.00003
|
NM_133497.4(KCNV2):c.913G>A (p.Val305Met)
|
rs371248089
|
0.00003
|
NM_133497.4(KCNV2):c.942G>A (p.Thr314=)
|
rs768891775
|
0.00003
|
NM_133497.4(KCNV2):c.-180G>A
|
rs886063817
|
0.00002
|
NM_133497.4(KCNV2):c.1001C>T (p.Ala334Val)
|
rs758106979
|
0.00002
|
NM_133497.4(KCNV2):c.1123G>A (p.Val375Met)
|
rs568147806
|
0.00002
|
NM_133497.4(KCNV2):c.1208C>T (p.Thr403Met)
|
rs745375996
|
0.00002
|
NM_133497.4(KCNV2):c.1236C>T (p.Gly412=)
|
rs758953080
|
0.00002
|
NM_133497.4(KCNV2):c.1265T>C (p.Ile422Thr)
|
rs769184629
|
0.00002
|
NM_133497.4(KCNV2):c.1341C>T (p.Ser447=)
|
rs559765711
|
0.00002
|
NM_133497.4(KCNV2):c.1351G>T (p.Ala451Ser)
|
rs370789466
|
0.00002
|
NM_133497.4(KCNV2):c.1354G>A (p.Ala452Thr)
|
rs770032221
|
0.00002
|
NM_133497.4(KCNV2):c.1356+16C>T
|
rs750825755
|
0.00002
|
NM_133497.4(KCNV2):c.1357-6C>G
|
rs776920442
|
0.00002
|
NM_133497.4(KCNV2):c.1408G>A (p.Gly470Ser)
|
rs990370382
|
0.00002
|
NM_133497.4(KCNV2):c.1568G>C (p.Arg523Thr)
|
rs369794013
|
0.00002
|
NM_133497.4(KCNV2):c.1571C>T (p.Ala524Val)
|
rs557493684
|
0.00002
|
NM_133497.4(KCNV2):c.190G>A (p.Glu64Lys)
|
rs146541413
|
0.00002
|
NM_133497.4(KCNV2):c.217G>C (p.Glu73Gln)
|
rs752013234
|
0.00002
|
NM_133497.4(KCNV2):c.279G>A (p.Pro93=)
|
rs573981437
|
0.00002
|
NM_133497.4(KCNV2):c.281C>A (p.Ala94Asp)
|
rs755862395
|
0.00002
|
NM_133497.4(KCNV2):c.294G>A (p.Thr98=)
|
rs1469817472
|
0.00002
|
NM_133497.4(KCNV2):c.41G>A (p.Arg14Lys)
|
rs748032810
|
0.00002
|
NM_133497.4(KCNV2):c.431A>G (p.Glu144Gly)
|
rs945133207
|
0.00002
|
NM_133497.4(KCNV2):c.502G>A (p.Gly168Arg)
|
rs780340984
|
0.00002
|
NM_133497.4(KCNV2):c.516G>A (p.Val172=)
|
rs1307513664
|
0.00002
|
NM_133497.4(KCNV2):c.531T>A (p.Cys177Ter)
|
rs1282433030
|
0.00002
|
NM_133497.4(KCNV2):c.573G>A (p.Arg191=)
|
rs768859361
|
0.00002
|
NM_133497.4(KCNV2):c.758C>T (p.Pro253Leu)
|
rs760295753
|
0.00002
|
NM_133497.4(KCNV2):c.875G>A (p.Gly292Asp)
|
rs752059245
|
0.00002
|
NM_133497.4(KCNV2):c.969C>T (p.Ser323=)
|
rs1360001250
|
0.00002
|
NM_133497.4(KCNV2):c.-161G>A
|
rs886063818
|
0.00001
|
NM_133497.4(KCNV2):c.1011G>A (p.Leu337=)
|
rs968707552
|
0.00001
|
NM_133497.4(KCNV2):c.1034C>T (p.Pro345Leu)
|
rs773122223
|
0.00001
|
NM_133497.4(KCNV2):c.1068G>T (p.Thr356=)
|
rs771129642
|
0.00001
|
NM_133497.4(KCNV2):c.1072G>A (p.Glu358Lys)
|
rs374211938
|
0.00001
|
NM_133497.4(KCNV2):c.1091A>G (p.Gln364Arg)
|
rs200266207
|
0.00001
|
NM_133497.4(KCNV2):c.1092G>A (p.Gln364=)
|
rs267602205
|
0.00001
|
NM_133497.4(KCNV2):c.1104C>T (p.Ser368=)
|
rs960100570
|
0.00001
|
NM_133497.4(KCNV2):c.1108G>C (p.Gly370Arg)
|
rs1307515949
|
0.00001
|
NM_133497.4(KCNV2):c.1109G>A (p.Gly370Asp)
|
rs534563578
|
0.00001
|
NM_133497.4(KCNV2):c.1131C>T (p.Arg377=)
|
rs767518507
|
0.00001
|
NM_133497.4(KCNV2):c.1156C>T (p.Arg386Cys)
|
rs749775089
|
0.00001
|
NM_133497.4(KCNV2):c.1167G>C (p.Lys389Asn)
|
rs376016220
|
0.00001
|
NM_133497.4(KCNV2):c.1174C>T (p.Arg392Cys)
|
rs770442556
|
0.00001
|
NM_133497.4(KCNV2):c.1181C>T (p.Ser394Phe)
|
rs1819807818
|
0.00001
|
NM_133497.4(KCNV2):c.1182C>T (p.Ser394=)
|
rs762855201
|
0.00001
|
NM_133497.4(KCNV2):c.1226A>G (p.Gln409Arg)
|
rs199497822
|
0.00001
|
NM_133497.4(KCNV2):c.1229A>C (p.Gln410Pro)
|
rs574582499
|
0.00001
|
NM_133497.4(KCNV2):c.1247T>C (p.Leu416Pro)
|
rs1444275335
|
0.00001
|
NM_133497.4(KCNV2):c.1254C>T (p.Ile418=)
|
rs370525145
|
0.00001
|
NM_133497.4(KCNV2):c.130C>T (p.His44Tyr)
|
rs527441501
|
0.00001
|
NM_133497.4(KCNV2):c.1319A>G (p.Asn440Ser)
|
rs764587081
|
0.00001
|
NM_133497.4(KCNV2):c.132C>T (p.His44=)
|
rs767774622
|
0.00001
|
NM_133497.4(KCNV2):c.133G>A (p.Gly45Ser)
|
rs750453951
|
0.00001
|
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter)
|
rs778977288
|
0.00001
|
NM_133497.4(KCNV2):c.1356+18G>A
|
rs766136806
|
0.00001
|
NM_133497.4(KCNV2):c.1356+9C>T
|
rs774716111
|
0.00001
|
NM_133497.4(KCNV2):c.1356G>A (p.Ala452=)
|
rs764608030
|
0.00001
|
NM_133497.4(KCNV2):c.1357-19T>G
|
rs753508225
|
0.00001
|
NM_133497.4(KCNV2):c.1357-3C>T
|
rs1041090491
|
0.00001
|
NM_133497.4(KCNV2):c.1372G>A (p.Val458Met)
|
rs374737276
|
0.00001
|
NM_133497.4(KCNV2):c.1391A>G (p.Tyr464Cys)
|
rs778822772
|
0.00001
|
NM_133497.4(KCNV2):c.1459A>G (p.Met487Val)
|
rs1461711190
|
0.00001
|
NM_133497.4(KCNV2):c.1480A>C (p.Asn494His)
|
rs566673245
|
0.00001
|
NM_133497.4(KCNV2):c.150C>A (p.Asn50Lys)
|
rs776336282
|
0.00001
|
NM_133497.4(KCNV2):c.1518T>C (p.Tyr506=)
|
rs548326379
|
0.00001
|
NM_133497.4(KCNV2):c.152A>G (p.Tyr51Cys)
|
rs201072890
|
0.00001
|
NM_133497.4(KCNV2):c.1577A>C (p.Lys526Thr)
|
rs1820033366
|
0.00001
|
NM_133497.4(KCNV2):c.1580A>G (p.Lys527Arg)
|
rs750165805
|
0.00001
|
NM_133497.4(KCNV2):c.1581G>C (p.Lys527Asn)
|
rs1053016624
|
0.00001
|
NM_133497.4(KCNV2):c.15T>C (p.Ser5=)
|
rs377071035
|
0.00001
|
NM_133497.4(KCNV2):c.1630G>C (p.Glu544Gln)
|
rs768225982
|
0.00001
|
NM_133497.4(KCNV2):c.1636T>G (p.Ter546Glu)
|
rs1820036621
|
0.00001
|
NM_133497.4(KCNV2):c.1638G>C (p.Ter546Tyr)
|
rs1465469369
|
0.00001
|
NM_133497.4(KCNV2):c.1A>G (p.Met1Val)
|
rs760755040
|
0.00001
|
NM_133497.4(KCNV2):c.208G>T (p.Asp70Tyr)
|
rs1470002004
|
0.00001
|
NM_133497.4(KCNV2):c.20G>T (p.Arg7Met)
|
rs370186140
|
0.00001
|
NM_133497.4(KCNV2):c.220G>A (p.Glu74Lys)
|
rs756949524
|
0.00001
|
NM_133497.4(KCNV2):c.224A>G (p.Asp75Gly)
|
rs1819768105
|
0.00001
|
NM_133497.4(KCNV2):c.253A>G (p.Lys85Glu)
|
rs1361483057
|
0.00001
|
NM_133497.4(KCNV2):c.257C>G (p.Pro86Arg)
|
rs1379886188
|
0.00001
|
NM_133497.4(KCNV2):c.25C>T (p.Arg9Trp)
|
rs746359393
|
0.00001
|
NM_133497.4(KCNV2):c.273C>A (p.Asp91Glu)
|
rs1369300851
|
0.00001
|
NM_133497.4(KCNV2):c.278C>T (p.Pro93Leu)
|
rs1449828854
|
0.00001
|
NM_133497.4(KCNV2):c.29C>T (p.Ser10Phe)
|
rs768154610
|
0.00001
|
NM_133497.4(KCNV2):c.314G>A (p.Gly105Asp)
|
rs762210764
|
0.00001
|
NM_133497.4(KCNV2):c.325C>T (p.Gln109Ter)
|
rs1478587308
|
0.00001
|
NM_133497.4(KCNV2):c.327G>C (p.Gln109His)
|
rs753302163
|
0.00001
|
NM_133497.4(KCNV2):c.374G>A (p.Arg125His)
|
rs1342075631
|
0.00001
|
NM_133497.4(KCNV2):c.401G>A (p.Arg134His)
|
rs1261691565
|
0.00001
|
NM_133497.4(KCNV2):c.407T>C (p.Leu136Pro)
|
rs755292064
|
0.00001
|
NM_133497.4(KCNV2):c.416G>A (p.Cys139Tyr)
|
rs1362037820
|
0.00001
|
NM_133497.4(KCNV2):c.418G>A (p.Asp140Asn)
|
rs778345203
|
0.00001
|
NM_133497.4(KCNV2):c.451T>C (p.Phe151Leu)
|
rs752649092
|
0.00001
|
NM_133497.4(KCNV2):c.467C>T (p.Ala156Val)
|
rs766337592
|
0.00001
|
NM_133497.4(KCNV2):c.47G>T (p.Trp16Leu)
|
rs1339778237
|
0.00001
|
NM_133497.4(KCNV2):c.480G>A (p.Leu160=)
|
rs773099220
|
0.00001
|
NM_133497.4(KCNV2):c.485A>T (p.Tyr162Phe)
|
rs149893780
|
0.00001
|
NM_133497.4(KCNV2):c.494A>G (p.Tyr165Cys)
|
rs751644579
|
0.00001
|
NM_133497.4(KCNV2):c.505G>A (p.Val169Met)
|
rs768242305
|
0.00001
|
NM_133497.4(KCNV2):c.514G>C (p.Val172Leu)
|
rs773293657
|
0.00001
|
NM_133497.4(KCNV2):c.526C>T (p.Leu176=)
|
rs764249096
|
0.00001
|
NM_133497.4(KCNV2):c.535C>T (p.Arg179Cys)
|
rs200662596
|
0.00001
|
NM_133497.4(KCNV2):c.57G>A (p.Thr19=)
|
rs374977862
|
0.00001
|
NM_133497.4(KCNV2):c.585G>A (p.Thr195=)
|
rs149078148
|
0.00001
|
NM_133497.4(KCNV2):c.598C>T (p.Arg200Cys)
|
rs1040408269
|
0.00001
|
NM_133497.4(KCNV2):c.600C>A (p.Arg200=)
|
rs769464760
|
0.00001
|
NM_133497.4(KCNV2):c.602T>A (p.Ile201Asn)
|
rs761992453
|
0.00001
|
NM_133497.4(KCNV2):c.60G>A (p.Glu20=)
|
rs199939330
|
0.00001
|
NM_133497.4(KCNV2):c.618G>C (p.Arg206=)
|
rs745790275
|
0.00001
|
NM_133497.4(KCNV2):c.633C>A (p.Ser211Arg)
|
rs920301311
|
0.00001
|
NM_133497.4(KCNV2):c.640C>T (p.Leu214Phe)
|
rs576345571
|
0.00001
|
NM_133497.4(KCNV2):c.643A>T (p.Lys215Ter)
|
rs763785730
|
0.00001
|
NM_133497.4(KCNV2):c.661C>T (p.Arg221Cys)
|
rs373963150
|
0.00001
|
NM_133497.4(KCNV2):c.671C>A (p.Ala224Glu)
|
rs776156112
|
0.00001
|
NM_133497.4(KCNV2):c.680A>C (p.Glu227Ala)
|
rs1294428392
|
0.00001
|
NM_133497.4(KCNV2):c.715T>C (p.Tyr239His)
|
rs973199066
|
0.00001
|
NM_133497.4(KCNV2):c.717C>T (p.Tyr239=)
|
rs777741747
|
0.00001
|
NM_133497.4(KCNV2):c.737T>C (p.Leu246Pro)
|
rs1433071774
|
0.00001
|
NM_133497.4(KCNV2):c.742A>T (p.Asn248Tyr)
|
rs368923394
|
0.00001
|
NM_133497.4(KCNV2):c.773C>T (p.Ala258Val)
|
rs1301366734
|
0.00001
|
NM_133497.4(KCNV2):c.774C>T (p.Ala258=)
|
rs763922419
|
0.00001
|
NM_133497.4(KCNV2):c.782C>A (p.Ala261Asp)
|
rs755071813
|
0.00001
|
NM_133497.4(KCNV2):c.796T>G (p.Ser266Ala)
|
rs745567670
|
0.00001
|
NM_133497.4(KCNV2):c.801C>T (p.Ser267=)
|
rs1352587134
|
0.00001
|
NM_133497.4(KCNV2):c.813C>T (p.Leu271=)
|
rs896414258
|
0.00001
|
NM_133497.4(KCNV2):c.818C>T (p.Ser273Phe)
|
rs761705988
|
0.00001
|
NM_133497.4(KCNV2):c.866del (p.Ser289fs)
|
rs758877996
|
0.00001
|
NM_133497.4(KCNV2):c.874G>A (p.Gly292Ser)
|
rs142521710
|
0.00001
|
NM_133497.4(KCNV2):c.87C>T (p.Ser29=)
|
rs755979460
|
0.00001
|
NM_133497.4(KCNV2):c.880G>C (p.Gly294Arg)
|
rs1490064746
|
0.00001
|
NM_133497.4(KCNV2):c.883G>A (p.Gly295Ser)
|
rs755751408
|
0.00001
|
NM_133497.4(KCNV2):c.884G>T (p.Gly295Val)
|
rs1413463889
|
0.00001
|
NM_133497.4(KCNV2):c.886C>T (p.Pro296Ser)
|
rs768276080
|
0.00001
|
NM_133497.4(KCNV2):c.921G>A (p.Met307Ile)
|
rs773605970
|
0.00001
|
NM_133497.4(KCNV2):c.931G>C (p.Gly311Arg)
|
rs202200956
|
0.00001
|
NM_133497.4(KCNV2):c.933C>A (p.Gly311=)
|
rs898624331
|
0.00001
|
NM_133497.4(KCNV2):c.94T>G (p.Ser32Ala)
|
rs1202370414
|
0.00001
|
NM_133497.4(KCNV2):c.958C>T (p.Arg320Cys)
|
rs754275640
|
0.00001
|
NM_133497.4(KCNV2):c.975C>T (p.Pro325=)
|
rs1275834231
|
0.00001
|
NM_133497.4(KCNV2):c.999C>T (p.Ser333=)
|
rs946520647
|
0.00001
|
GRCh37/hg19 9p24.2(chr9:2689263-2787884)x1
|
|
|
NC_000009.11:g.(?_2717738)_(2719115_?)del
|
|
|
NC_000009.11:g.(?_2717755)_(2728666_?)del
|
|
|
NC_000009.11:g.(?_2717758)_(2728666_?)del
|
|
|
NC_000009.11:g.(?_2729426)_(2729727_?)del
|
|
|
NC_000009.11:g.2716981_2787016del
|
|
|
NC_000009.12:g.(?_2717740)_(2729727_?)del
|
|
|
NG_012181.1:g.5233_16321delinsCATTTG
|
|
|
NM_133497.3(KCNV2):c.(?_-1)_(*1_?)del
|
|
|
NM_133497.4(KCNV2):c.*114C>A
|
rs1820039673
|
|
NM_133497.4(KCNV2):c.*5T>C
|
|
|
NM_133497.4(KCNV2):c.*90A>G
|
rs886063832
|
|
NM_133497.4(KCNV2):c.-15C>T
|
rs181712064
|
|
NM_133497.4(KCNV2):c.1000G>A (p.Ala334Thr)
|
rs1329374024
|
|
NM_133497.4(KCNV2):c.1007ACCTGGTGG[1] (p.Asp339_Val341del)
|
rs786205064
|
|
NM_133497.4(KCNV2):c.1009C>T (p.Leu337=)
|
rs751106123
|
|
NM_133497.4(KCNV2):c.1012G>A (p.Val338Met)
|
rs1819799162
|
|
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
|
|
|
NM_133497.4(KCNV2):c.1019T>C (p.Leu340Pro)
|
|
|
NM_133497.4(KCNV2):c.102T>C (p.Gly34=)
|
rs2130860045
|
|
NM_133497.4(KCNV2):c.1030C>A (p.Leu344Met)
|
rs1819800386
|
|
NM_133497.4(KCNV2):c.1035G>C (p.Pro345=)
|
rs747113494
|
|
NM_133497.4(KCNV2):c.1035G>T (p.Pro345=)
|
|
|
NM_133497.4(KCNV2):c.103G>A (p.Ala35Thr)
|
rs771666119
|
|
NM_133497.4(KCNV2):c.1040A>G (p.Tyr347Cys)
|
|
|
NM_133497.4(KCNV2):c.1043T>G (p.Leu348Arg)
|
|
|
NM_133497.4(KCNV2):c.1049T>G (p.Leu350Arg)
|
rs1819801593
|
|
NM_133497.4(KCNV2):c.1049_1052dup (p.Leu352fs)
|
rs886063821
|
|
NM_133497.4(KCNV2):c.1054C>T (p.Leu352Phe)
|
|
|
NM_133497.4(KCNV2):c.1056C>G (p.Leu352=)
|
|
|
NM_133497.4(KCNV2):c.1057G>C (p.Glu353Gln)
|
rs369069912
|
|
NM_133497.4(KCNV2):c.1057G>T (p.Glu353Ter)
|
|
|
NM_133497.4(KCNV2):c.1061G>A (p.Cys354Tyr)
|
|
|
NM_133497.4(KCNV2):c.1063T>C (p.Phe355Leu)
|
rs75645675
|
|
NM_133497.4(KCNV2):c.1063T>G (p.Phe355Val)
|
rs75645675
|
|
NM_133497.4(KCNV2):c.1068G>A (p.Thr356=)
|
rs771129642
|
|
NM_133497.4(KCNV2):c.1074G>C (p.Glu358Asp)
|
rs1229495796
|
|
NM_133497.4(KCNV2):c.107_291dup (p.Thr98fs)
|
rs1554628460
|
|
NM_133497.4(KCNV2):c.1085G>A (p.Arg362His)
|
rs766985581
|
|
NM_133497.4(KCNV2):c.1089C>G (p.Gly363=)
|
rs1819803957
|
|
NM_133497.4(KCNV2):c.1095G>A (p.Thr365=)
|
|
|
NM_133497.4(KCNV2):c.1096del (p.Val366fs)
|
rs1486482604
|
|
NM_133497.4(KCNV2):c.10C>G (p.Gln4Glu)
|
|
|
NM_133497.4(KCNV2):c.1108_1195del (p.Gly370fs)
|
|
|
NM_133497.4(KCNV2):c.1109G>C (p.Gly370Ala)
|
rs534563578
|
|
NM_133497.4(KCNV2):c.1120C>G (p.Gln374Glu)
|
rs1313318182
|
|
NM_133497.4(KCNV2):c.1126T>A (p.Leu376Met)
|
rs1819805245
|
|
NM_133497.4(KCNV2):c.1129C>A (p.Arg377Ser)
|
rs143664586
|
|
NM_133497.4(KCNV2):c.1129C>G (p.Arg377Gly)
|
|
|
NM_133497.4(KCNV2):c.1131C>G (p.Arg377=)
|
rs767518507
|
|
NM_133497.4(KCNV2):c.1132G>A (p.Val378Ile)
|
rs752928296
|
|
NM_133497.4(KCNV2):c.1132G>T (p.Val378Phe)
|
|
|
NM_133497.4(KCNV2):c.1135A>G (p.Met379Val)
|
|
|
NM_133497.4(KCNV2):c.1136T>G (p.Met379Arg)
|
|
|
NM_133497.4(KCNV2):c.1137G>A (p.Met379Ile)
|
rs1819805927
|
|
NM_133497.4(KCNV2):c.1139G>T (p.Arg380Leu)
|
|
|
NM_133497.4(KCNV2):c.1141_1149dup (p.Leu381_Arg383dup)
|
rs745311059
|
|
NM_133497.4(KCNV2):c.1144A>G (p.Met382Val)
|
rs757516625
|
|
NM_133497.4(KCNV2):c.1148G>A (p.Arg383His)
|
rs141881396
|
|
NM_133497.4(KCNV2):c.1149C>T (p.Arg383=)
|
|
|
NM_133497.4(KCNV2):c.1154T>C (p.Phe385Ser)
|
rs1366341886
|
|
NM_133497.4(KCNV2):c.1156_1164del (p.Arg386_Leu388del)
|
|
|
NM_133497.4(KCNV2):c.1162_1164del (p.Leu388del)
|
|
|
NM_133497.4(KCNV2):c.1171G>A (p.Ala391Thr)
|
|
|
NM_133497.4(KCNV2):c.1179C>G (p.His393Gln)
|
|
|
NM_133497.4(KCNV2):c.1185C>G (p.Thr395=)
|
|
|
NM_133497.4(KCNV2):c.1186G>A (p.Gly396Arg)
|
rs138924201
|
|
NM_133497.4(KCNV2):c.1186G>T (p.Gly396Ter)
|
rs138924201
|
|
NM_133497.4(KCNV2):c.118C>G (p.Gln40Glu)
|
rs759192531
|
|
NM_133497.4(KCNV2):c.1193G>A (p.Arg398His)
|
|
|
NM_133497.4(KCNV2):c.1199del (p.Phe400fs)
|
rs768486552
|
|
NM_133497.4(KCNV2):c.1200C>T (p.Phe400=)
|
|
|
NM_133497.4(KCNV2):c.1203C>T (p.Gly401=)
|
rs770511296
|
|
NM_133497.4(KCNV2):c.1211T>C (p.Leu404Pro)
|
rs1819808781
|
|
NM_133497.4(KCNV2):c.1228C>A (p.Gln410Lys)
|
|
|
NM_133497.4(KCNV2):c.1258A>G (p.Met420Val)
|
rs1413316237
|
|
NM_133497.4(KCNV2):c.125G>C (p.Ser42Thr)
|
|
|
NM_133497.4(KCNV2):c.1274T>C (p.Phe425Ser)
|
|
|
NM_133497.4(KCNV2):c.1278T>G (p.Ser426=)
|
rs1357257500
|
|
NM_133497.4(KCNV2):c.127A>T (p.Ile43Phe)
|
|
|
NM_133497.4(KCNV2):c.127_128delinsTA (p.Ile43Tyr)
|
rs2130860083
|
|
NM_133497.4(KCNV2):c.1280C>A (p.Ala427Glu)
|
|
|
NM_133497.4(KCNV2):c.1288T>C (p.Tyr430His)
|
|
|
NM_133497.4(KCNV2):c.128T>A (p.Ile43Asn)
|
|
|
NM_133497.4(KCNV2):c.1294G>A (p.Val432Met)
|
|
|
NM_133497.4(KCNV2):c.1295_1296del (p.Val432fs)
|
rs1318199256
|
|
NM_133497.4(KCNV2):c.12G>A (p.Gln4=)
|
|
|
NM_133497.4(KCNV2):c.1303G>A (p.Asp435Asn)
|
rs376306786
|
|
NM_133497.4(KCNV2):c.1303G>T (p.Asp435Tyr)
|
rs376306786
|
|
NM_133497.4(KCNV2):c.1317_1318delinsTT (p.Asn440Tyr)
|
rs2130862054
|
|
NM_133497.4(KCNV2):c.1322T>C (p.Phe441Ser)
|
rs2130862066
|
|
NM_133497.4(KCNV2):c.1324A>G (p.Thr442Ala)
|
rs2130862070
|
|
NM_133497.4(KCNV2):c.1328C>T (p.Thr443Ile)
|
|
|
NM_133497.4(KCNV2):c.1331T>C (p.Ile444Thr)
|
|
|
NM_133497.4(KCNV2):c.1334C>T (p.Pro445Leu)
|
|
|
NM_133497.4(KCNV2):c.1336C>G (p.His446Asp)
|
rs755848294
|
|
NM_133497.4(KCNV2):c.1336dup (p.His446fs)
|
|
|
NM_133497.4(KCNV2):c.1341C>G (p.Ser447=)
|
rs559765711
|
|
NM_133497.4(KCNV2):c.1343G>T (p.Trp448Leu)
|
|
|
NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg)
|
rs748180390
|
|
NM_133497.4(KCNV2):c.1351G>A (p.Ala451Thr)
|
rs370789466
|
|
NM_133497.4(KCNV2):c.1356+11T>A
|
|
|
NM_133497.4(KCNV2):c.1356+15C>G
|
|
|
NM_133497.4(KCNV2):c.1356+17T>G
|
|
|
NM_133497.4(KCNV2):c.1356+3_1356+6del
|
rs748084580
|
|
NM_133497.4(KCNV2):c.1356+4A>T
|
rs2130862121
|
|
NM_133497.4(KCNV2):c.1357-19T>C
|
rs753508225
|
|
NM_133497.4(KCNV2):c.1357-4A>G
|
rs1395688495
|
|
NM_133497.4(KCNV2):c.1357-9C>T
|
rs1820024800
|
|
NM_133497.4(KCNV2):c.1372G>C (p.Val458Leu)
|
rs374737276
|
|
NM_133497.4(KCNV2):c.1375G>T (p.Gly459Cys)
|
|
|
NM_133497.4(KCNV2):c.1376G>A (p.Gly459Asp)
|
rs104894115
|
|
NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg)
|
rs149648640
|
|
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter)
|
rs149648640
|
|
NM_133497.4(KCNV2):c.1388T>C (p.Met463Thr)
|
rs773096508
|
|
NM_133497.4(KCNV2):c.1388T>G (p.Met463Arg)
|
rs773096508
|
|
NM_133497.4(KCNV2):c.1404C>T (p.His468=)
|
rs372176253
|
|
NM_133497.4(KCNV2):c.1409G>A (p.Gly470Asp)
|
rs777154728
|
|
NM_133497.4(KCNV2):c.140C>T (p.Thr47Ile)
|
|
|
NM_133497.4(KCNV2):c.1411A>T (p.Arg471Trp)
|
rs1820027191
|
|
NM_133497.4(KCNV2):c.1419T>C (p.Phe473=)
|
|
|
NM_133497.4(KCNV2):c.1426C>G (p.Leu476Val)
|
|
|
NM_133497.4(KCNV2):c.1436C>G (p.Ala479Gly)
|
rs369942348
|
|
NM_133497.4(KCNV2):c.1440T>C (p.Phe480=)
|
|
|
NM_133497.4(KCNV2):c.1441G>C (p.Gly481Arg)
|
rs1586692857
|
|
NM_133497.4(KCNV2):c.1452C>G (p.Leu484=)
|
|
|
NM_133497.4(KCNV2):c.1458G>A (p.Gly486=)
|
rs1434560252
|
|
NM_133497.4(KCNV2):c.1475T>C (p.Leu492Pro)
|
rs2130869375
|
|
NM_133497.4(KCNV2):c.1479CAA[1] (p.Asn494del)
|
|
|
NM_133497.4(KCNV2):c.148A>G (p.Asn50Asp)
|
rs757537568
|
|
NM_133497.4(KCNV2):c.149A>G (p.Asn50Ser)
|
rs770575580
|
|
NM_133497.4(KCNV2):c.1500C>G (p.Tyr500Ter)
|
|
|
NM_133497.4(KCNV2):c.1503_1512del (p.Ser501fs)
|
rs1820030325
|
|
NM_133497.4(KCNV2):c.1521G>A (p.Glu507=)
|
|
|
NM_133497.4(KCNV2):c.1526C>A (p.Thr509Asn)
|
rs770113041
|
|
NM_133497.4(KCNV2):c.1534C>A (p.Arg512Ser)
|
|
|
NM_133497.4(KCNV2):c.1535G>A (p.Arg512His)
|
rs371862412
|
|
NM_133497.4(KCNV2):c.153T>A (p.Tyr51Ter)
|
|
|
NM_133497.4(KCNV2):c.153T>G (p.Tyr51Ter)
|
rs950492553
|
|
NM_133497.4(KCNV2):c.1541A>G (p.Glu514Gly)
|
|
|
NM_133497.4(KCNV2):c.1552G>C (p.Val518Leu)
|
|
|
NM_133497.4(KCNV2):c.1552G>T (p.Val518Leu)
|
rs2130869457
|
|
NM_133497.4(KCNV2):c.1569_1570del (p.Arg523fs)
|
|
|
NM_133497.4(KCNV2):c.1570G>A (p.Ala524Thr)
|
|
|
NM_133497.4(KCNV2):c.1583T>C (p.Ile528Thr)
|
|
|
NM_133497.4(KCNV2):c.1593T>C (p.Cys531=)
|
|
|
NM_133497.4(KCNV2):c.1609C>T (p.Pro537Ser)
|
rs757778905
|
|
NM_133497.4(KCNV2):c.1613A>T (p.Gln538Leu)
|
|
|
NM_133497.4(KCNV2):c.161A>C (p.Tyr54Ser)
|
rs1819763573
|
|
NM_133497.4(KCNV2):c.1620C>G (p.Thr540=)
|
|
|
NM_133497.4(KCNV2):c.1620C>T (p.Thr540=)
|
rs748924069
|
|
NM_133497.4(KCNV2):c.1621C>T (p.Pro541Ser)
|
rs1820036201
|
|
NM_133497.4(KCNV2):c.1622C>G (p.Pro541Arg)
|
rs543865855
|
|
NM_133497.4(KCNV2):c.1630G>T (p.Glu544Ter)
|
|
|
NM_133497.4(KCNV2):c.1637A>C (p.Ter546Ser)
|
rs2130869560
|
|
NM_133497.4(KCNV2):c.168G>C (p.Glu56Asp)
|
rs201975160
|
|
NM_133497.4(KCNV2):c.170A>C (p.Glu57Ala)
|
rs1819764161
|
|
NM_133497.4(KCNV2):c.178G>C (p.Asp60His)
|
rs1819764524
|
|
NM_133497.4(KCNV2):c.182G>T (p.Gly61Val)
|
|
|
NM_133497.4(KCNV2):c.182_183insGGG (p.Gly61_Glu62insGly)
|
|
|
NM_133497.4(KCNV2):c.183C>T (p.Gly61=)
|
|
|
NM_133497.4(KCNV2):c.183_184delinsGA (p.Glu62Lys)
|
rs1819765042
|
|
NM_133497.4(KCNV2):c.184G>A (p.Glu62Lys)
|
|
|
NM_133497.4(KCNV2):c.186G>A (p.Glu62=)
|
|
|
NM_133497.4(KCNV2):c.186GGA[2] (p.Glu64del)
|
rs774310851
|
|
NM_133497.4(KCNV2):c.192G>A (p.Glu64=)
|
rs561533607
|
|
NM_133497.4(KCNV2):c.192G>C (p.Glu64Asp)
|
rs561533607
|
|
NM_133497.4(KCNV2):c.193G>A (p.Asp65Asn)
|
rs745416881
|
|
NM_133497.4(KCNV2):c.193G>T (p.Asp65Tyr)
|
|
|
NM_133497.4(KCNV2):c.196C>T (p.Gln66Ter)
|
|
|
NM_133497.4(KCNV2):c.199T>A (p.Trp67Arg)
|
rs543226684
|
|
NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg)
|
rs543226684
|
|
NM_133497.4(KCNV2):c.199T>G (p.Trp67Gly)
|
rs543226684
|
|
NM_133497.4(KCNV2):c.19_20del (p.Arg7fs)
|
rs1385132304
|
|
NM_133497.4(KCNV2):c.202A>C (p.Lys68Gln)
|
|
|
NM_133497.4(KCNV2):c.20G>A (p.Arg7Lys)
|
rs370186140
|
|
NM_133497.4(KCNV2):c.20G>C (p.Arg7Thr)
|
rs370186140
|
|
NM_133497.4(KCNV2):c.211C>A (p.Leu71Met)
|
|
|
NM_133497.4(KCNV2):c.211C>T (p.Leu71=)
|
rs1430683520
|
|
NM_133497.4(KCNV2):c.213G>A (p.Leu71=)
|
|
|
NM_133497.4(KCNV2):c.214G>T (p.Ala72Ser)
|
rs1228440224
|
|
NM_133497.4(KCNV2):c.216A>C (p.Ala72=)
|
rs764552497
|
|
NM_133497.4(KCNV2):c.21G>C (p.Arg7Ser)
|
rs757360187
|
|
NM_133497.4(KCNV2):c.220G>C (p.Glu74Gln)
|
|
|
NM_133497.4(KCNV2):c.222G>C (p.Glu74Asp)
|
rs139063852
|
|
NM_133497.4(KCNV2):c.225C>T (p.Asp75=)
|
rs532418456
|
|
NM_133497.4(KCNV2):c.226C>T (p.Gln76Ter)
|
rs387907302
|
|
NM_133497.4(KCNV2):c.228G>T (p.Gln76His)
|
|
|
NM_133497.4(KCNV2):c.230A>C (p.Gln77Pro)
|
|
|
NM_133497.4(KCNV2):c.240G>C (p.Glu80Asp)
|
|
|
NM_133497.4(KCNV2):c.241G>A (p.Val81Ile)
|
rs778654754
|
|
NM_133497.4(KCNV2):c.248C>T (p.Thr83Ile)
|
rs2130860300
|
|
NM_133497.4(KCNV2):c.255G>C (p.Lys85Asn)
|
|
|
NM_133497.4(KCNV2):c.256C>G (p.Pro86Ala)
|
rs764748937
|
|
NM_133497.4(KCNV2):c.257C>T (p.Pro86Leu)
|
rs1379886188
|
|
NM_133497.4(KCNV2):c.258C>T (p.Pro86=)
|
rs143109320
|
|
NM_133497.4(KCNV2):c.259G>A (p.Glu87Lys)
|
|
|
NM_133497.4(KCNV2):c.26G>A (p.Arg9Gln)
|
|
|
NM_133497.4(KCNV2):c.286C>T (p.Leu96=)
|
rs2130860350
|
|
NM_133497.4(KCNV2):c.293C>T (p.Thr98Met)
|
|
|
NM_133497.4(KCNV2):c.296T>A (p.Leu99Gln)
|
rs1427633996
|
|
NM_133497.4(KCNV2):c.29C>A (p.Ser10Tyr)
|
|
|
NM_133497.4(KCNV2):c.29C>G (p.Ser10Cys)
|
|
|
NM_133497.4(KCNV2):c.309G>A (p.Val103=)
|
rs775691897
|
|
NM_133497.4(KCNV2):c.311G>A (p.Gly104Asp)
|
|
|
NM_133497.4(KCNV2):c.311G>C (p.Gly104Ala)
|
|
|
NM_133497.4(KCNV2):c.315C>G (p.Gly105=)
|
|
|
NM_133497.4(KCNV2):c.318C>A (p.His106Gln)
|
|
|
NM_133497.4(KCNV2):c.326A>G (p.Gln109Arg)
|
|
|
NM_133497.4(KCNV2):c.328C>G (p.Leu110Val)
|
rs372942165
|
|
NM_133497.4(KCNV2):c.328C>T (p.Leu110=)
|
rs372942165
|
|
NM_133497.4(KCNV2):c.339C>A (p.Cys113Ter)
|
rs202036979
|
|
NM_133497.4(KCNV2):c.339C>G (p.Cys113Trp)
|
|
|
NM_133497.4(KCNV2):c.341A>G (p.Glu114Gly)
|
|
|
NM_133497.4(KCNV2):c.343C>T (p.Leu115=)
|
|
|
NM_133497.4(KCNV2):c.345G>A (p.Leu115=)
|
rs202166642
|
|
NM_133497.4(KCNV2):c.345G>T (p.Leu115=)
|
|
|
NM_133497.4(KCNV2):c.352T>G (p.Phe118Val)
|
|
|
NM_133497.4(KCNV2):c.357C>G (p.Pro119=)
|
rs1819772981
|
|
NM_133497.4(KCNV2):c.359A>T (p.Lys120Met)
|
rs1199220423
|
|
NM_133497.4(KCNV2):c.35G>C (p.Ser12Thr)
|
|
|
NM_133497.4(KCNV2):c.361A>G (p.Thr121Ala)
|
|
|
NM_133497.4(KCNV2):c.361del (p.Thr121fs)
|
rs2130860471
|
|
NM_133497.4(KCNV2):c.362C>T (p.Thr121Met)
|
|
|
NM_133497.4(KCNV2):c.364C>G (p.Arg122Gly)
|
rs761130319
|
|
NM_133497.4(KCNV2):c.367_396dup (p.Leu123_Arg132dup)
|
rs1819773282
|
|
NM_133497.4(KCNV2):c.368T>C (p.Leu123Pro)
|
|
|
NM_133497.4(KCNV2):c.371G>T (p.Gly124Val)
|
|
|
NM_133497.4(KCNV2):c.376C>T (p.Leu126=)
|
rs1400557971
|
|
NM_133497.4(KCNV2):c.380C>T (p.Ala127Val)
|
rs1225416665
|
|
NM_133497.4(KCNV2):c.381del (p.Thr128fs)
|
rs141099767
|
|
NM_133497.4(KCNV2):c.389C>G (p.Thr130Ser)
|
rs541196988
|
|
NM_133497.4(KCNV2):c.389C>T (p.Thr130Ile)
|
rs541196988
|
|
NM_133497.4(KCNV2):c.390C>G (p.Thr130=)
|
|
|
NM_133497.4(KCNV2):c.399C>T (p.Ser133=)
|
|
|
NM_133497.4(KCNV2):c.39C>G (p.Tyr13Ter)
|
|
|
NM_133497.4(KCNV2):c.411_414del (p.Leu138fs)
|
rs1586686845
|
|
NM_133497.4(KCNV2):c.412C>T (p.Leu138=)
|
|
|
NM_133497.4(KCNV2):c.414G>A (p.Leu138=)
|
|
|
NM_133497.4(KCNV2):c.414G>C (p.Leu138=)
|
|
|
NM_133497.4(KCNV2):c.417C>A (p.Cys139Ter)
|
rs748280472
|
|
NM_133497.4(KCNV2):c.417C>T (p.Cys139=)
|
rs748280472
|
|
NM_133497.4(KCNV2):c.420C>T (p.Asp140=)
|
rs886131960
|
|
NM_133497.4(KCNV2):c.421G>A (p.Asp141Asn)
|
|
|
NM_133497.4(KCNV2):c.427G>A (p.Glu143Lys)
|
rs104894113
|
|
NM_133497.4(KCNV2):c.427G>T (p.Glu143Ter)
|
rs104894113
|
|
NM_133497.4(KCNV2):c.430G>T (p.Glu144Ter)
|
rs777051584
|
|
NM_133497.4(KCNV2):c.437C>T (p.Thr146Ile)
|
|
|
NM_133497.4(KCNV2):c.439G>A (p.Asp147Asn)
|
|
|
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys)
|
rs140256288
|
|
NM_133497.4(KCNV2):c.442G>T (p.Glu148Ter)
|
rs140256288
|
|
NM_133497.4(KCNV2):c.447C>T (p.Tyr149=)
|
rs2130860614
|
|
NM_133497.4(KCNV2):c.448T>A (p.Phe150Ile)
|
rs1819776082
|
|
NM_133497.4(KCNV2):c.448TTC[1] (p.Phe151del)
|
rs766549271
|
|
NM_133497.4(KCNV2):c.44C>T (p.Pro15Leu)
|
rs771599426
|
|
NM_133497.4(KCNV2):c.450C>T (p.Phe150=)
|
|
|
NM_133497.4(KCNV2):c.452T>C (p.Phe151Ser)
|
|
|
NM_133497.4(KCNV2):c.453C>T (p.Phe151=)
|
|
|
NM_133497.4(KCNV2):c.454G>T (p.Asp152Tyr)
|
rs377667539
|
|
NM_133497.4(KCNV2):c.455A>G (p.Asp152Gly)
|
rs1586686896
|
|
NM_133497.4(KCNV2):c.458_459delinsTT (p.Arg153Leu)
|
|
|
NM_133497.4(KCNV2):c.487_495del (p.Asn163_Tyr165del)
|
rs2130860666
|
|
NM_133497.4(KCNV2):c.491T>C (p.Phe164Ser)
|
rs397514604
|
|
NM_133497.4(KCNV2):c.491del (p.Phe164fs)
|
rs2130860673
|
|
NM_133497.4(KCNV2):c.496C>T (p.Leu166=)
|
|
|
NM_133497.4(KCNV2):c.501C>T (p.Ser167=)
|
|
|
NM_133497.4(KCNV2):c.507G>A (p.Val169=)
|
rs1819777840
|
|
NM_133497.4(KCNV2):c.517C>T (p.Leu173Phe)
|
rs760750739
|
|
NM_133497.4(KCNV2):c.51C>A (p.Asn17Lys)
|
|
|
NM_133497.4(KCNV2):c.522C>T (p.Asp174=)
|
rs1819778232
|
|
NM_133497.4(KCNV2):c.523G>T (p.Gly175Trp)
|
|
|
NM_133497.4(KCNV2):c.524G>C (p.Gly175Ala)
|
|
|
NM_133497.4(KCNV2):c.524G>T (p.Gly175Val)
|
|
|
NM_133497.4(KCNV2):c.525G>A (p.Gly175=)
|
|
|
NM_133497.4(KCNV2):c.528_536delinsCA (p.Cys177fs)
|
rs1819778559
|
|
NM_133497.4(KCNV2):c.529T>C (p.Cys177Arg)
|
rs751600925
|
|
NM_133497.4(KCNV2):c.530G>C (p.Cys177Ser)
|
rs1819778622
|
|
NM_133497.4(KCNV2):c.534G>A (p.Pro178=)
|
|
|
NM_133497.4(KCNV2):c.542_543delinsCT (p.Phe181Ser)
|
rs2130860769
|
|
NM_133497.4(KCNV2):c.547G>T (p.Glu183Ter)
|
rs1272477167
|
|
NM_133497.4(KCNV2):c.550G>A (p.Glu184Lys)
|
|
|
NM_133497.4(KCNV2):c.553C>G (p.Leu185Val)
|
rs780435673
|
|
NM_133497.4(KCNV2):c.562T>A (p.Trp188Arg)
|
rs977790637
|
|
NM_133497.4(KCNV2):c.563G>A (p.Trp188Ter)
|
|
|
NM_133497.4(KCNV2):c.564G>C (p.Trp188Cys)
|
rs772921412
|
|
NM_133497.4(KCNV2):c.568G>C (p.Val190Leu)
|
|
|
NM_133497.4(KCNV2):c.56C>T (p.Thr19Met)
|
|
|
NM_133497.4(KCNV2):c.572G>T (p.Arg191Leu)
|
rs1164395600
|
|
NM_133497.4(KCNV2):c.574C>T (p.Leu192Phe)
|
rs1423174083
|
|
NM_133497.4(KCNV2):c.581A>G (p.Tyr194Cys)
|
rs1384318414
|
|
NM_133497.4(KCNV2):c.582C>T (p.Tyr194=)
|
rs2130860842
|
|
NM_133497.4(KCNV2):c.588A>G (p.Pro196=)
|
rs2130860852
|
|
NM_133497.4(KCNV2):c.590G>T (p.Arg197Leu)
|
|
|
NM_133497.4(KCNV2):c.591C>A (p.Arg197=)
|
|
|
NM_133497.4(KCNV2):c.595T>C (p.Cys199Arg)
|
rs777392338
|
|
NM_133497.4(KCNV2):c.596G>A (p.Cys199Tyr)
|
rs770865610
|
|
NM_133497.4(KCNV2):c.600C>T (p.Arg200=)
|
|
|
NM_133497.4(KCNV2):c.603C>T (p.Ile201=)
|
|
|
NM_133497.4(KCNV2):c.605G>C (p.Cys202Ser)
|
|
|
NM_133497.4(KCNV2):c.609C>G (p.Phe203Leu)
|
|
|
NM_133497.4(KCNV2):c.609C>T (p.Phe203=)
|
|
|
NM_133497.4(KCNV2):c.613G>T (p.Glu205Ter)
|
rs753157401
|
|
NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln)
|
rs780813722
|
|
NM_133497.4(KCNV2):c.617G>C (p.Arg206Pro)
|
rs780813722
|
|
NM_133497.4(KCNV2):c.617G>T (p.Arg206Leu)
|
rs780813722
|
|
NM_133497.4(KCNV2):c.619C>T (p.Arg207Cys)
|
rs1242550633
|
|
NM_133497.4(KCNV2):c.620G>T (p.Arg207Leu)
|
|
|
NM_133497.4(KCNV2):c.621C>T (p.Arg207=)
|
|
|
NM_133497.4(KCNV2):c.622G>T (p.Asp208Tyr)
|
|
|
NM_133497.4(KCNV2):c.623A>G (p.Asp208Gly)
|
rs1233843071
|
|
NM_133497.4(KCNV2):c.624C>G (p.Asp208Glu)
|
rs907617598
|
|
NM_133497.4(KCNV2):c.624C>T (p.Asp208=)
|
rs907617598
|
|
NM_133497.4(KCNV2):c.625G>A (p.Glu209Lys)
|
rs200148749
|
|
NM_133497.4(KCNV2):c.625G>T (p.Glu209Ter)
|
|
|
NM_133497.4(KCNV2):c.627G>A (p.Glu209=)
|
rs1383777570
|
|
NM_133497.4(KCNV2):c.627G>C (p.Glu209Asp)
|
rs1383777570
|
|
NM_133497.4(KCNV2):c.632G>A (p.Ser211Asn)
|
rs1175089913
|
|
NM_133497.4(KCNV2):c.637C>T (p.Arg213Trp)
|
rs747313869
|
|
NM_133497.4(KCNV2):c.638G>A (p.Arg213Gln)
|
rs776807664
|
|
NM_133497.4(KCNV2):c.638G>C (p.Arg213Pro)
|
rs776807664
|
|
NM_133497.4(KCNV2):c.638G>T (p.Arg213Leu)
|
|
|
NM_133497.4(KCNV2):c.641T>C (p.Leu214Pro)
|
|
|
NM_133497.4(KCNV2):c.645G>A (p.Lys215=)
|
rs201327014
|
|
NM_133497.4(KCNV2):c.645G>T (p.Lys215Asn)
|
rs201327014
|
|
NM_133497.4(KCNV2):c.647T>A (p.Ile216Asn)
|
|
|
NM_133497.4(KCNV2):c.647T>G (p.Ile216Ser)
|
rs558295858
|
|
NM_133497.4(KCNV2):c.649C>T (p.Gln217Ter)
|
rs2130860955
|
|
NM_133497.4(KCNV2):c.652C>G (p.His218Asp)
|
rs755998410
|
|
NM_133497.4(KCNV2):c.652C>T (p.His218Tyr)
|
rs755998410
|
|
NM_133497.4(KCNV2):c.653_661dup (p.Leu220_Arg221insHisGluLeu)
|
|
|
NM_133497.4(KCNV2):c.656_657del (p.Glu219fs)
|
rs2130860973
|
|
NM_133497.4(KCNV2):c.659T>C (p.Leu220Pro)
|
rs1199262407
|
|
NM_133497.4(KCNV2):c.663C>T (p.Arg221=)
|
|
|
NM_133497.4(KCNV2):c.664G>A (p.Ala222Thr)
|
|
|
NM_133497.4(KCNV2):c.665CGCAGG[1] (p.222AQ[1])
|
rs759818370
|
|
NM_133497.4(KCNV2):c.66G>A (p.Glu22=)
|
|
|
NM_133497.4(KCNV2):c.671C>T (p.Ala224Val)
|
rs776156112
|
|
NM_133497.4(KCNV2):c.672G>C (p.Ala224=)
|
|
|
NM_133497.4(KCNV2):c.674A>C (p.Gln225Pro)
|
|
|
NM_133497.4(KCNV2):c.676G>C (p.Val226Leu)
|
rs74587818
|
|
NM_133497.4(KCNV2):c.687G>A (p.Ala229=)
|
rs371912406
|
|
NM_133497.4(KCNV2):c.692A>C (p.Glu231Ala)
|
|
|
NM_133497.4(KCNV2):c.699C>T (p.Phe233=)
|
|
|
NM_133497.4(KCNV2):c.700C>A (p.Arg234Ser)
|
rs769985957
|
|
NM_133497.4(KCNV2):c.700C>T (p.Arg234Cys)
|
|
|
NM_133497.4(KCNV2):c.700dup (p.Arg234fs)
|
|
|
NM_133497.4(KCNV2):c.705_706dup (p.Met236fs)
|
|
|
NM_133497.4(KCNV2):c.707T>C (p.Met236Thr)
|
|
|
NM_133497.4(KCNV2):c.707T>G (p.Met236Arg)
|
rs1819786525
|
|
NM_133497.4(KCNV2):c.710G>C (p.Arg237Pro)
|
|
|
NM_133497.4(KCNV2):c.711C>A (p.Arg237=)
|
rs2130861070
|
|
NM_133497.4(KCNV2):c.714C>T (p.Phe238=)
|
|
|
NM_133497.4(KCNV2):c.718G>T (p.Gly240Cys)
|
rs760387745
|
|
NM_133497.4(KCNV2):c.720C>A (p.Gly240=)
|
rs947756576
|
|
NM_133497.4(KCNV2):c.721_722delinsTA (p.Pro241Ter)
|
rs1819787095
|
|
NM_133497.4(KCNV2):c.725_730del (p.Gln242_Arg243del)
|
rs1586687216
|
|
NM_133497.4(KCNV2):c.727C>A (p.Arg243=)
|
rs143138491
|
|
NM_133497.4(KCNV2):c.727C>T (p.Arg243Trp)
|
|
|
NM_133497.4(KCNV2):c.729G>A (p.Arg243=)
|
rs1809256690
|
|
NM_133497.4(KCNV2):c.729G>T (p.Arg243=)
|
rs1809256690
|
|
NM_133497.4(KCNV2):c.730C>T (p.Arg244Cys)
|
|
|
NM_133497.4(KCNV2):c.741G>A (p.Trp247Ter)
|
rs2130861136
|
|
NM_133497.4(KCNV2):c.742A>C (p.Asn248His)
|
|
|
NM_133497.4(KCNV2):c.743A>T (p.Asn248Ile)
|
|
|
NM_133497.4(KCNV2):c.746T>G (p.Leu249Arg)
|
|
|
NM_133497.4(KCNV2):c.757C>G (p.Pro253Ala)
|
rs1819788466
|
|
NM_133497.4(KCNV2):c.758del (p.Pro253fs)
|
rs1586687247
|
|
NM_133497.4(KCNV2):c.75A>C (p.Gln25His)
|
|
|
NM_133497.4(KCNV2):c.75A>G (p.Gln25=)
|
rs2130859991
|
|
NM_133497.4(KCNV2):c.762C>G (p.Phe254Leu)
|
rs147022958
|
|
NM_133497.4(KCNV2):c.764C>T (p.Ser255Phe)
|
rs899801446
|
|
NM_133497.4(KCNV2):c.765C>T (p.Ser255=)
|
|
|
NM_133497.4(KCNV2):c.767C>G (p.Ser256Trp)
|
rs104894116
|
|
NM_133497.4(KCNV2):c.774del (p.Ala259fs)
|
rs753147277
|
|
NM_133497.4(KCNV2):c.777C>T (p.Ala259=)
|
rs751450407
|
|
NM_133497.4(KCNV2):c.778A>G (p.Lys260Glu)
|
rs139027297
|
|
NM_133497.4(KCNV2):c.781del (p.Ala261fs)
|
rs2130861209
|
|
NM_133497.4(KCNV2):c.786C>T (p.Ile262=)
|
|
|
NM_133497.4(KCNV2):c.798C>T (p.Ser266=)
|
rs2130861256
|
|
NM_133497.4(KCNV2):c.800G>A (p.Ser267Asn)
|
rs2130861259
|
|
NM_133497.4(KCNV2):c.807C>A (p.Phe269Leu)
|
|
|
NM_133497.4(KCNV2):c.807C>T (p.Phe269=)
|
rs373932533
|
|
NM_133497.4(KCNV2):c.816C>A (p.Val272=)
|
rs2130861285
|
|
NM_133497.4(KCNV2):c.823G>T (p.Val275Leu)
|
rs962948174
|
|
NM_133497.4(KCNV2):c.831G>A (p.Leu277=)
|
rs1487458605
|
|
NM_133497.4(KCNV2):c.834G>A (p.Ala278=)
|
rs1429376047
|
|
NM_133497.4(KCNV2):c.844G>A (p.Val282Met)
|
rs781606821
|
|
NM_133497.4(KCNV2):c.846G>A (p.Val282=)
|
|
|
NM_133497.4(KCNV2):c.847G>A (p.Glu283Lys)
|
|
|
NM_133497.4(KCNV2):c.849G>T (p.Glu283Asp)
|
rs17656693
|
|
NM_133497.4(KCNV2):c.84G>A (p.Arg28=)
|
rs781326115
|
|
NM_133497.4(KCNV2):c.855G>T (p.Met285Ile)
|
rs768649666
|
|
NM_133497.4(KCNV2):c.856C>T (p.Gln286Ter)
|
|
|
NM_133497.4(KCNV2):c.866C>A (p.Ser289Ter)
|
rs569992163
|
|
NM_133497.4(KCNV2):c.866C>G (p.Ser289Trp)
|
rs569992163
|
|
NM_133497.4(KCNV2):c.866C>T (p.Ser289Leu)
|
rs569992163
|
|
NM_133497.4(KCNV2):c.867G>C (p.Ser289=)
|
|
|
NM_133497.4(KCNV2):c.867G>T (p.Ser289=)
|
rs765405789
|
|
NM_133497.4(KCNV2):c.868G>C (p.Gly290Arg)
|
|
|
NM_133497.4(KCNV2):c.873G>A (p.Gln291=)
|
|
|
NM_133497.4(KCNV2):c.873G>C (p.Gln291His)
|
rs139044338
|
|
NM_133497.4(KCNV2):c.875G>T (p.Gly292Val)
|
|
|
NM_133497.4(KCNV2):c.876C>A (p.Gly292=)
|
rs757804743
|
|
NM_133497.4(KCNV2):c.876C>T (p.Gly292=)
|
|
|
NM_133497.4(KCNV2):c.877G>A (p.Glu293Lys)
|
|
|
NM_133497.4(KCNV2):c.881G>A (p.Gly294Asp)
|
|
|
NM_133497.4(KCNV2):c.884G>A (p.Gly295Asp)
|
rs1413463889
|
|
NM_133497.4(KCNV2):c.889G>C (p.Asp297His)
|
|
|
NM_133497.4(KCNV2):c.889_901del (p.Asp297fs)
|
rs1563795658
|
|
NM_133497.4(KCNV2):c.898C>A (p.Pro300Thr)
|
rs773016278
|
|
NM_133497.4(KCNV2):c.8_11del (p.Lys3fs)
|
rs786205121
|
|
NM_133497.4(KCNV2):c.906G>A (p.Leu302=)
|
|
|
NM_133497.4(KCNV2):c.907G>C (p.Glu303Gln)
|
rs1266256987
|
|
NM_133497.4(KCNV2):c.912C>T (p.His304=)
|
|
|
NM_133497.4(KCNV2):c.916G>T (p.Glu306Ter)
|
rs104894114
|
|
NM_133497.4(KCNV2):c.920T>C (p.Met307Thr)
|
|
|
NM_133497.4(KCNV2):c.92G>A (p.Cys31Tyr)
|
|
|
NM_133497.4(KCNV2):c.930G>A (p.Met310Ile)
|
rs1004868073
|
|
NM_133497.4(KCNV2):c.931G>A (p.Gly311Ser)
|
rs202200956
|
|
NM_133497.4(KCNV2):c.932G>A (p.Gly311Asp)
|
rs1015880443
|
|
NM_133497.4(KCNV2):c.935T>C (p.Phe312Ser)
|
|
|
NM_133497.4(KCNV2):c.936C>T (p.Phe312=)
|
rs1006319872
|
|
NM_133497.4(KCNV2):c.944_973del (p.Leu315_Thr324del)
|
rs1819796278
|
|
NM_133497.4(KCNV2):c.946G>A (p.Glu316Lys)
|
|
|
NM_133497.4(KCNV2):c.948G>T (p.Glu316Asp)
|
rs147822789
|
|
NM_133497.4(KCNV2):c.951C>G (p.Tyr317Ter)
|
rs1432037634
|
|
NM_133497.4(KCNV2):c.958C>G (p.Arg320Gly)
|
rs754275640
|
|
NM_133497.4(KCNV2):c.959G>A (p.Arg320His)
|
rs1369674746
|
|
NM_133497.4(KCNV2):c.965C>T (p.Ala322Val)
|
rs777405471
|
|
NM_133497.4(KCNV2):c.972G>T (p.Thr324=)
|
rs1443842786
|
|
NM_133497.4(KCNV2):c.976G>A (p.Asp326Asn)
|
|
|
NM_133497.4(KCNV2):c.982_1000del (p.Arg328fs)
|
rs1819797791
|
|
NM_133497.4(KCNV2):c.984G>A (p.Arg328=)
|
|
|
NM_133497.4(KCNV2):c.989T>C (p.Phe330Ser)
|
rs1819797955
|
|
NM_133497.4(KCNV2):c.990C>T (p.Phe330=)
|
rs773388753
|
|
NM_133497.4(KCNV2):c.995G>A (p.Arg332His)
|
rs765751812
|
|
NM_133497.4(KCNV2):c.995_996dup (p.Ser333fs)
|
rs986350598
|
|
NM_133497.4(KCNV2):c.99G>A (p.Leu33=)
|
rs575726539
|
|
NM_133497.4:c.1357_1638del
|
rs1820025037
|
|