|
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu)
|
rs7102584
|
0.98759
|
|
NM_000890.5(KCNJ5):c.*410C>T
|
rs2846675
|
0.84898
|
|
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=)
|
rs6590357
|
0.84812
|
|
NM_000890.5(KCNJ5):c.834T>C (p.His278=)
|
rs7118833
|
0.84299
|
|
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=)
|
rs7118824
|
0.84187
|
|
NM_000890.5(KCNJ5):c.*928C>T
|
rs7925056
|
0.82830
|
|
NM_000890.5(KCNJ5):c.938-10G>A
|
rs4937391
|
0.74403
|
|
NM_000890.5(KCNJ5):c.*804G>T
|
rs2604204
|
0.74160
|
|
NM_000890.5(KCNJ5):c.*1063G>A
|
rs2846696
|
0.68788
|
|
NM_000890.5(KCNJ5):c.*1338del
|
rs144472942
|
0.47522
|
|
NM_000890.5(KCNJ5):c.-293C>G
|
rs376640553
|
0.32896
|
|
NM_000890.5(KCNJ5):c.*1338C>A
|
rs6590358
|
0.27661
|
|
NM_000890.5(KCNJ5):c.-295C>G
|
rs372328307
|
0.22991
|
|
NM_000890.5(KCNJ5):c.*779G>T
|
rs4373934
|
0.19421
|
|
NM_000890.5(KCNJ5):c.*1168C>G
|
rs1137937
|
0.18319
|
|
NM_000890.5(KCNJ5):c.*976G>A
|
rs7102315
|
0.06508
|
|
NM_000890.5(KCNJ5):c.*528C>T
|
rs3867250
|
0.06451
|
|
NM_000890.5(KCNJ5):c.937+7C>T
|
rs45516097
|
0.06448
|
|
NM_000890.5(KCNJ5):c.*34G>T
|
rs116494206
|
0.01052
|
|
NM_000890.5(KCNJ5):c.-289G>C
|
rs60658163
|
0.00389
|
|
NM_000890.5(KCNJ5):c.938-11C>T
|
rs72542772
|
0.00376
|
|
NM_000890.5(KCNJ5):c.*759C>T
|
rs75453162
|
0.00373
|
|
NM_000890.5(KCNJ5):c.*547G>A
|
rs114896724
|
0.00370
|
|
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys)
|
rs115012103
|
0.00300
|
|
NM_000890.5(KCNJ5):c.*1216C>T
|
rs566376081
|
0.00293
|
|
NM_000890.5(KCNJ5):c.*1091G>A
|
rs565178107
|
0.00218
|
|
NM_000890.5(KCNJ5):c.*96G>A
|
rs77092337
|
0.00200
|
|
NM_000890.5(KCNJ5):c.192C>T (p.His64=)
|
rs140848236
|
0.00182
|
|
NM_000890.5(KCNJ5):c.*1302C>T
|
rs552826605
|
0.00089
|
|
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=)
|
rs149861510
|
0.00087
|
|
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=)
|
rs143219149
|
0.00078
|
|
NM_000890.5(KCNJ5):c.*977T>C
|
rs181648220
|
0.00068
|
|
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=)
|
rs192889782
|
0.00051
|
|
NM_000890.5(KCNJ5):c.-63G>C
|
rs557063967
|
0.00044
|
|
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)
|
rs146853795
|
0.00037
|
|
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=)
|
rs144040058
|
0.00037
|
|
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)
|
rs113012271
|
0.00034
|
|
NM_000890.5(KCNJ5):c.*1310C>T
|
rs537850039
|
0.00033
|
|
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=)
|
rs141325005
|
0.00026
|
|
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)
|
rs139073333
|
0.00025
|
|
NM_000890.5(KCNJ5):c.*960G>C
|
rs186315097
|
0.00022
|
|
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)
|
rs147245544
|
0.00021
|
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
|
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile)
|
rs138295501
|
0.00016
|
|
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys)
|
rs148355179
|
0.00013
|
|
NM_000890.5(KCNJ5):c.-272A>G
|
rs886048007
|
0.00012
|
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
|
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg)
|
rs148307402
|
0.00009
|
|
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=)
|
rs201217363
|
0.00009
|
|
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=)
|
rs750600982
|
0.00009
|
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
|
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser)
|
rs147070381
|
0.00008
|
|
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=)
|
rs372736753
|
0.00008
|
|
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile)
|
rs375669366
|
0.00006
|
|
NM_000890.5(KCNJ5):c.1124G>A (p.Arg375Gln)
|
rs530587789
|
0.00005
|
|
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=)
|
rs528463709
|
0.00005
|
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
|
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=)
|
rs370673577
|
0.00005
|
|
NM_000890.5(KCNJ5):c.994C>T (p.Arg332Ter)
|
rs746985291
|
0.00005
|
|
NM_000890.5(KCNJ5):c.-285G>C
|
rs886048006
|
0.00004
|
|
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=)
|
rs375205252
|
0.00004
|
|
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe)
|
rs760375676
|
0.00004
|
|
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=)
|
rs772009654
|
0.00003
|
|
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn)
|
rs892317617
|
0.00003
|
|
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)
|
rs765873474
|
0.00003
|
|
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=)
|
rs1249014742
|
0.00003
|
|
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)
|
rs140697732
|
0.00003
|
|
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=)
|
rs750048771
|
0.00003
|
|
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=)
|
rs370546974
|
0.00003
|
|
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp)
|
rs143790141
|
0.00003
|
|
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)
|
rs757895735
|
0.00003
|
|
NM_000890.5(KCNJ5):c.955C>T (p.Arg319Trp)
|
rs778735978
|
0.00003
|
|
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)
|
rs529755922
|
0.00002
|
|
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr)
|
rs754816201
|
0.00002
|
|
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)
|
rs780934792
|
0.00002
|
|
NM_000890.5(KCNJ5):c.1220A>G (p.Lys407Arg)
|
rs745968243
|
0.00002
|
|
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys)
|
rs781011854
|
0.00002
|
|
NM_000890.5(KCNJ5):c.155G>A (p.Arg52His)
|
rs144062083
|
0.00002
|
|
NM_000890.5(KCNJ5):c.260G>A (p.Arg87His)
|
rs747951700
|
0.00002
|
|
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile)
|
rs749202931
|
0.00002
|
|
NM_000890.5(KCNJ5):c.430A>G (p.Ile144Val)
|
rs369703183
|
0.00002
|
|
NM_000890.5(KCNJ5):c.447C>T (p.Thr149=)
|
rs140491115
|
0.00002
|
|
NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr)
|
rs1232257803
|
0.00002
|
|
NM_000890.5(KCNJ5):c.475G>T (p.Glu159Ter)
|
rs763940447
|
0.00002
|
|
NM_000890.5(KCNJ5):c.492G>T (p.Gly164=)
|
rs540291475
|
0.00002
|
|
NM_000890.5(KCNJ5):c.497T>C (p.Ile166Thr)
|
rs908209122
|
0.00002
|
|
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=)
|
rs149327599
|
0.00002
|
|
NM_000890.5(KCNJ5):c.835G>A (p.Glu279Lys)
|
rs777592481
|
0.00002
|
|
NM_000890.5(KCNJ5):c.864G>T (p.Glu288Asp)
|
rs771919907
|
0.00002
|
|
NM_000890.5(KCNJ5):c.*1024A>G
|
rs886048018
|
0.00001
|
|
NM_000890.5(KCNJ5):c.-253G>T
|
rs886048009
|
0.00001
|
|
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro)
|
rs544093099
|
0.00001
|
|
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=)
|
rs781130958
|
0.00001
|
|
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=)
|
rs1202155314
|
0.00001
|
|
NM_000890.5(KCNJ5):c.1184A>C (p.Asp395Ala)
|
rs766058202
|
0.00001
|
|
NM_000890.5(KCNJ5):c.119C>T (p.Thr40Met)
|
rs185412918
|
0.00001
|
|
NM_000890.5(KCNJ5):c.120G>A (p.Thr40=)
|
rs370114584
|
0.00001
|
|
NM_000890.5(KCNJ5):c.1217C>T (p.Pro406Leu)
|
rs1467798537
|
0.00001
|
|
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His)
|
rs748152068
|
0.00001
|
|
NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys)
|
rs72544301
|
0.00001
|
|
NM_000890.5(KCNJ5):c.183C>T (p.Asn61=)
|
rs760931417
|
0.00001
|
|
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=)
|
rs371347693
|
0.00001
|
|
NM_000890.5(KCNJ5):c.214C>T (p.Arg72Trp)
|
rs757877367
|
0.00001
|
|
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys)
|
rs781022847
|
0.00001
|
|
NM_000890.5(KCNJ5):c.295G>A (p.Val99Ile)
|
rs1390685442
|
0.00001
|
|
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln)
|
rs369247802
|
0.00001
|
|
NM_000890.5(KCNJ5):c.367G>A (p.Asp123Asn)
|
rs752310426
|
0.00001
|
|
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)
|
rs780052854
|
0.00001
|
|
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=)
|
rs149219318
|
0.00001
|
|
NM_000890.5(KCNJ5):c.415G>A (p.Ala139Thr)
|
rs201816501
|
0.00001
|
|
NM_000890.5(KCNJ5):c.473C>G (p.Thr158Arg)
|
rs145901904
|
0.00001
|
|
NM_000890.5(KCNJ5):c.532G>A (p.Val178Ile)
|
rs771161358
|
0.00001
|
|
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val)
|
rs1389181295
|
0.00001
|
|
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr)
|
rs750424299
|
0.00001
|
|
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)
|
rs758377412
|
0.00001
|
|
NM_000890.5(KCNJ5):c.658C>T (p.Arg220Trp)
|
rs772551729
|
0.00001
|
|
NM_000890.5(KCNJ5):c.665G>A (p.Gly222Asp)
|
rs746522890
|
0.00001
|
|
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His)
|
rs772877248
|
0.00001
|
|
NM_000890.5(KCNJ5):c.703C>T (p.Arg235Trp)
|
rs148462487
|
0.00001
|
|
NM_000890.5(KCNJ5):c.724C>T (p.Arg242Trp)
|
rs576156828
|
0.00001
|
|
NM_000890.5(KCNJ5):c.725G>A (p.Arg242Gln)
|
rs746240972
|
0.00001
|
|
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=)
|
rs545729688
|
0.00001
|
|
NM_000890.5(KCNJ5):c.748A>T (p.Ile250Phe)
|
rs769317544
|
0.00001
|
|
NM_000890.5(KCNJ5):c.800G>A (p.Arg267His)
|
rs886048010
|
0.00001
|
|
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp)
|
rs1462481036
|
0.00001
|
|
NM_000890.5(KCNJ5):c.906G>T (p.Val302=)
|
rs533482437
|
0.00001
|
|
NM_000890.5(KCNJ5):c.937+9C>T
|
rs781582486
|
0.00001
|
|
NM_000890.5(KCNJ5):c.938-4C>T
|
rs753186315
|
0.00001
|
|
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=)
|
rs1370256653
|
0.00001
|
|
NC_000011.9:g.(?_128781169)_(128786626_?)del
|
|
|
|
NC_000011.9:g.(?_128781169)_(128786626_?)dup
|
|
|
|
NM_000890.5(KCNJ5):c.*103G>C
|
rs886048012
|
|
|
NM_000890.5(KCNJ5):c.*1151C>T
|
rs886048019
|
|
|
NM_000890.5(KCNJ5):c.*121G>T
|
rs78979538
|
|
|
NM_000890.5(KCNJ5):c.*1323del
|
rs886048020
|
|
|
NM_000890.5(KCNJ5):c.*200C>A
|
rs756204980
|
|
|
NM_000890.5(KCNJ5):c.*228G>T
|
rs886048013
|
|
|
NM_000890.5(KCNJ5):c.*378dup
|
rs397799938
|
|
|
NM_000890.5(KCNJ5):c.*667C>T
|
rs886048014
|
|
|
NM_000890.5(KCNJ5):c.*747A>G
|
rs886048015
|
|
|
NM_000890.5(KCNJ5):c.*861GTTTT[7]
|
rs36205004
|
|
|
NM_000890.5(KCNJ5):c.*861GTTTT[8]
|
rs36205004
|
|
|
NM_000890.5(KCNJ5):c.*936C>G
|
rs77525858
|
|
|
NM_000890.5(KCNJ5):c.*936C>T
|
rs77525858
|
|
|
NM_000890.5(KCNJ5):c.*978T>G
|
rs886048017
|
|
|
NM_000890.5(KCNJ5):c.-258_-255del
|
rs886048008
|
|
|
NM_000890.5(KCNJ5):c.-284_-283insAAGAGA
|
rs886048005
|
|
|
NM_000890.5(KCNJ5):c.-287G>C
|
rs868130049
|
|
|
NM_000890.5(KCNJ5):c.-289GA[18]
|
rs71057905
|
|
|
NM_000890.5(KCNJ5):c.-289GA[19]
|
rs71057905
|
|
|
NM_000890.5(KCNJ5):c.-289GA[20]
|
rs71057905
|
|
|
NM_000890.5(KCNJ5):c.-291C>G
|
rs10893931
|
|
|
NM_000890.5(KCNJ5):c.-291GA[3]
|
rs886048000
|
|
|
NM_000890.5(KCNJ5):c.-291_-286del
|
rs886048002
|
|
|
NM_000890.5(KCNJ5):c.-291_-288del
|
rs886048001
|
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAG
|
rs886048003
|
|
|
NM_000890.5(KCNJ5):c.-291delinsGAGAGAGAGAG
|
rs886048003
|
|
|
NM_000890.5(KCNJ5):c.-293GA[3]
|
rs886047996
|
|
|
NM_000890.5(KCNJ5):c.-293GA[4]
|
rs886047996
|
|
|
NM_000890.5(KCNJ5):c.-293_-288del
|
rs886047997
|
|
|
NM_000890.5(KCNJ5):c.-293_-289delinsGAGAGAGAGAGAA
|
rs886047999
|
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAG
|
rs886047998
|
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAG
|
rs886047998
|
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
|
NM_000890.5(KCNJ5):c.-293_-291delinsGAGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047998
|
|
|
NM_000890.5(KCNJ5):c.-294_-293insGAGA
|
rs886047996
|
|
|
NM_000890.5(KCNJ5):c.-295GA[3]
|
rs886047994
|
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAG
|
rs886047995
|
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAG
|
rs886047995
|
|
|
NM_000890.5(KCNJ5):c.-295_-291delinsGAGAGAGAGAGAGAGAGAG
|
rs886047995
|
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAG
|
rs886047993
|
|
|
NM_000890.5(KCNJ5):c.-297_-291delinsGAGAGAGAGAGAGAGAG
|
rs886047993
|
|
|
NM_000890.5(KCNJ5):c.-299_-291delinsGAGAG
|
rs886047992
|
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsG
|
rs886047990
|
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAG
|
rs886047990
|
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAG
|
rs886047990
|
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAG
|
rs886047990
|
|
|
NM_000890.5(KCNJ5):c.-301_-291delinsGAGAGAGAGAGAGAG
|
rs886047990
|
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAG
|
rs886047988
|
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAG
|
rs886047988
|
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAG
|
rs886047988
|
|
|
NM_000890.5(KCNJ5):c.-303_-291delinsGAGAGAGAGAGAGAGAGAGAGAG
|
rs886047988
|
|
|
NM_000890.5(KCNJ5):c.-305_-291delinsGAGAG
|
rs886047987
|
|
|
NM_000890.5(KCNJ5):c.-333CA[24]
|
rs113761140
|
|
|
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)
|
|
|
|
NM_000890.5(KCNJ5):c.1030T>C (p.Tyr344His)
|
|
|
|
NM_000890.5(KCNJ5):c.1036G>A (p.Val346Met)
|
rs2136003912
|
|
|
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=)
|
rs1159900612
|
|
|
NM_000890.5(KCNJ5):c.1074C>A (p.Asn358Lys)
|
rs2136003967
|
|
|
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
|
|
|
|
NM_000890.5(KCNJ5):c.112G>A (p.Asp38Asn)
|
rs2135998525
|
|
|
NM_000890.5(KCNJ5):c.1133A>G (p.Gln378Arg)
|
|
|
|
NM_000890.5(KCNJ5):c.1148C>T (p.Pro383Leu)
|
|
|
|
NM_000890.5(KCNJ5):c.1151C>A (p.Pro384Gln)
|
rs148307402
|
|
|
NM_000890.5(KCNJ5):c.1151del (p.Pro384fs)
|
|
|
|
NM_000890.5(KCNJ5):c.1151dup (p.Leu385fs)
|
|
|
|
NM_000890.5(KCNJ5):c.1153dup (p.Leu385fs)
|
rs2136004085
|
|
|
NM_000890.5(KCNJ5):c.1161G>C (p.Gly387=)
|
rs2136004112
|
|
|
NM_000890.5(KCNJ5):c.1162G>A (p.Gly388Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
|
|
|
|
NM_000890.5(KCNJ5):c.1180C>A (p.Leu394Met)
|
|
|
|
NM_000890.5(KCNJ5):c.1185T>G (p.Asp395Glu)
|
|
|
|
NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=)
|
|
|
|
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
|
|
|
|
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)
|
|
|
|
NM_000890.5(KCNJ5):c.1210G>C (p.Asp404His)
|
rs1265998559
|
|
|
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
|
|
|
|
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)
|
|
|
|
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
|
|
|
|
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)
|
|
|
|
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=)
|
rs919890581
|
|
|
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)
|
|
|
|
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser)
|
rs930047035
|
|
|
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
|
|
|
|
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=)
|
rs757867512
|
|
|
NM_000890.5(KCNJ5):c.133G>C (p.Glu45Gln)
|
rs372447456
|
|
|
NM_000890.5(KCNJ5):c.141G>C (p.Lys47Asn)
|
rs1298630101
|
|
|
NM_000890.5(KCNJ5):c.144G>A (p.Lys48=)
|
|
|
|
NM_000890.5(KCNJ5):c.149G>C (p.Arg50Pro)
|
rs748152068
|
|
|
NM_000890.5(KCNJ5):c.171_172inv (p.Gly58Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met)
|
rs1389808024
|
|
|
NM_000890.5(KCNJ5):c.193G>A (p.Gly65Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=)
|
rs1735429450
|
|
|
NM_000890.5(KCNJ5):c.246G>A (p.Val82=)
|
|
|
|
NM_000890.5(KCNJ5):c.276C>G (p.Val92=)
|
rs1944499040
|
|
|
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
|
|
|
|
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
|
|
|
|
NM_000890.5(KCNJ5):c.313G>A (p.Gly105Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.314G>C (p.Gly105Ala)
|
rs776932193
|
|
|
NM_000890.5(KCNJ5):c.316T>C (p.Phe106Leu)
|
rs1944499851
|
|
|
NM_000890.5(KCNJ5):c.328C>T (p.Leu110Phe)
|
|
|
|
NM_000890.5(KCNJ5):c.330C>T (p.Leu110=)
|
rs762272154
|
|
|
NM_000890.5(KCNJ5):c.343C>T (p.Arg115Trp)
|
|
|
|
NM_000890.5(KCNJ5):c.352C>A (p.Leu118Met)
|
|
|
|
NM_000890.5(KCNJ5):c.361G>A (p.Val121Ile)
|
|
|
|
NM_000890.5(KCNJ5):c.397C>T (p.Leu133Phe)
|
rs1555144961
|
|
|
NM_000890.5(KCNJ5):c.409G>A (p.Val137Met)
|
|
|
|
NM_000890.5(KCNJ5):c.411G>A (p.Val137=)
|
|
|
|
NM_000890.5(KCNJ5):c.41A>T (p.Glu14Val)
|
rs1555144849
|
|
|
NM_000890.5(KCNJ5):c.439G>C (p.Glu147Gln)
|
rs148355179
|
|
|
NM_000890.5(KCNJ5):c.445A>G (p.Thr149Ala)
|
|
|
|
NM_000890.5(KCNJ5):c.449T>G (p.Ile150Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg)
|
rs386352319
|
|
|
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu)
|
rs587777437
|
|
|
NM_000890.5(KCNJ5):c.466G>A (p.Val156Ile)
|
|
|
|
NM_000890.5(KCNJ5):c.472A>G (p.Thr158Ala)
|
rs387906778
|
|
|
NM_000890.5(KCNJ5):c.50T>A (p.Val17Asp)
|
|
|
|
NM_000890.5(KCNJ5):c.519C>G (p.Ile173Met)
|
|
|
|
NM_000890.5(KCNJ5):c.520C>A (p.Leu174Met)
|
rs1944506012
|
|
|
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile)
|
rs774980501
|
|
|
NM_000890.5(KCNJ5):c.554G>C (p.Cys185Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.592G>A (p.Glu198Lys)
|
|
|
|
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=)
|
rs2135999272
|
|
|
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer)
|
rs1177055098
|
|
|
NM_000890.5(KCNJ5):c.61G>C (p.Asp21His)
|
|
|
|
NM_000890.5(KCNJ5):c.622A>G (p.Ile208Val)
|
rs1555145038
|
|
|
NM_000890.5(KCNJ5):c.628A>T (p.Met210Leu)
|
|
|
|
NM_000890.5(KCNJ5):c.634G>A (p.Asp212Asn)
|
rs786205823
|
|
|
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)
|
|
|
|
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
|
|
|
|
NM_000890.5(KCNJ5):c.659G>A (p.Arg220Gln)
|
|
|
|
NM_000890.5(KCNJ5):c.663G>A (p.Val221=)
|
rs1944509320
|
|
|
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
|
|
|
|
NM_000890.5(KCNJ5):c.666C>T (p.Gly222=)
|
rs200933370
|
|
|
NM_000890.5(KCNJ5):c.667G>A (p.Asp223Asn)
|
rs761349623
|
|
|
NM_000890.5(KCNJ5):c.670C>T (p.Leu224Phe)
|
rs2135999392
|
|
|
NM_000890.5(KCNJ5):c.673C>T (p.Arg225Cys)
|
|
|
|
NM_000890.5(KCNJ5):c.687C>G (p.Ile229Met)
|
rs149327599
|
|
|
NM_000890.5(KCNJ5):c.691G>A (p.Glu231Lys)
|
|
|
|
NM_000890.5(KCNJ5):c.701T>C (p.Ile234Thr)
|
|
|
|
NM_000890.5(KCNJ5):c.737_738del (p.Glu246fs)
|
|
|
|
NM_000890.5(KCNJ5):c.73A>T (p.Ile25Phe)
|
rs2135998470
|
|
|
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
|
|
|
|
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
|
|
|
|
NM_000890.5(KCNJ5):c.751C>T (p.Pro251Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
|
|
|
|
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
|
|
|
|
NM_000890.5(KCNJ5):c.796G>A (p.Asp266Asn)
|
|
|
|
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)
|
|
|
|
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)
|
rs7118824
|
|
|
NM_000890.5(KCNJ5):c.810_811delinsGA (p.Val271Met)
|
rs1591450867
|
|
|
NM_000890.5(KCNJ5):c.813G>T (p.Val271=)
|
|
|
|
NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)
|
|
|
|
NM_000890.5(KCNJ5):c.829T>G (p.Ser277Ala)
|
|
|
|
NM_000890.5(KCNJ5):c.830C>T (p.Ser277Phe)
|
|
|
|
NM_000890.5(KCNJ5):c.834T>A (p.His278Gln)
|
rs7118833
|
|
|
NM_000890.5(KCNJ5):c.834_835inv (p.Glu279Lys)
|
|
|
|
NM_000890.5(KCNJ5):c.843_844delinsTG (p.Gln282Glu)
|
rs1060503834
|
|
|
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)
|
|
|
|
NM_000890.5(KCNJ5):c.857T>C (p.Phe286Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.866T>C (p.Met289Thr)
|
rs936797038
|
|
|
NM_000890.5(KCNJ5):c.86C>A (p.Ala29Asp)
|
rs863224689
|
|
|
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=)
|
rs2135999678
|
|
|
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
|
|
|
|
NM_000890.5(KCNJ5):c.925G>A (p.Val309Met)
|
|
|
|
NM_000890.5(KCNJ5):c.937+4del
|
|
|
|
NM_000890.5(KCNJ5):c.937G>A (p.Gly313Ser)
|
|
|
|
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA
|
rs2136003778
|
|
|
NM_000890.5(KCNJ5):c.938-13T>G
|
rs2136003773
|
|
|
NM_000890.5(KCNJ5):c.938-20T>C
|
|
|
|
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)
|
|
|
|
NM_000890.5(KCNJ5):c.968T>C (p.Met323Thr)
|
rs886048011
|
|
|
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)
|
|
|
|
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=)
|
rs767651199
|
|
|
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)
|
|
|