NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=)
|
rs190973308
|
0.00162
|
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=)
|
rs201892150
|
0.00145
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=)
|
rs17879258
|
0.00039
|
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=)
|
rs144414806
|
0.00036
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
NM_003924.4(PHOX2B):c.654C>A (p.Pro218=)
|
rs770437869
|
0.00006
|
NM_003924.4(PHOX2B):c.531C>T (p.Asp177=)
|
rs746303997
|
0.00005
|
NM_003924.4(PHOX2B):c.921C>G (p.Ala307=)
|
rs1045005323
|
0.00005
|
NM_003924.4(PHOX2B):c.146C>A (p.Thr49Asn)
|
rs559227588
|
0.00004
|
NM_003924.4(PHOX2B):c.834C>T (p.Gly278=)
|
rs761468808
|
0.00004
|
NM_003924.4(PHOX2B):c.315C>T (p.Phe105=)
|
rs763804374
|
0.00003
|
NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)
|
rs748614674
|
0.00003
|
NM_003924.4(PHOX2B):c.543C>T (p.Asp181=)
|
rs780690330
|
0.00003
|
NM_003924.4(PHOX2B):c.393G>C (p.Leu131=)
|
rs779269711
|
0.00002
|
NM_003924.4(PHOX2B):c.411C>T (p.Leu137=)
|
rs749727192
|
0.00002
|
NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)
|
rs964285984
|
0.00002
|
NM_003924.4(PHOX2B):c.649G>A (p.Gly217Arg)
|
rs759792321
|
0.00002
|
NM_003924.4(PHOX2B):c.679G>T (p.Ala227Ser)
|
rs778799670
|
0.00002
|
NM_003924.4(PHOX2B):c.683G>T (p.Gly228Val)
|
rs1335294030
|
0.00002
|
NM_003924.4(PHOX2B):c.692G>A (p.Gly231Asp)
|
rs1044995380
|
0.00002
|
NM_003924.4(PHOX2B):c.719G>A (p.Gly240Asp)
|
rs917558720
|
0.00002
|
NM_003924.4(PHOX2B):c.78G>A (p.Leu26=)
|
rs746854983
|
0.00002
|
NM_003924.4(PHOX2B):c.792T>C (p.Ala264=)
|
rs755927299
|
0.00002
|
NM_003924.4(PHOX2B):c.796G>T (p.Ala266Ser)
|
rs1260084723
|
0.00002
|
NM_003924.4(PHOX2B):c.905A>G (p.Asn302Ser)
|
rs779068107
|
0.00002
|
NM_003924.4(PHOX2B):c.929A>G (p.Lys310Arg)
|
rs767873201
|
0.00002
|
NM_003924.4(PHOX2B):c.111C>T (p.Ser37=)
|
rs374160638
|
0.00001
|
NM_003924.4(PHOX2B):c.135C>T (p.Asn45=)
|
rs878854616
|
0.00001
|
NM_003924.4(PHOX2B):c.137C>A (p.Pro46Gln)
|
rs1381435898
|
0.00001
|
NM_003924.4(PHOX2B):c.138G>A (p.Pro46=)
|
rs1486629336
|
0.00001
|
NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser)
|
rs1194861348
|
0.00001
|
NM_003924.4(PHOX2B):c.186G>A (p.Pro62=)
|
rs763699416
|
0.00001
|
NM_003924.4(PHOX2B):c.219C>T (p.His73=)
|
rs1188377092
|
0.00001
|
NM_003924.4(PHOX2B):c.243T>G (p.Val81=)
|
rs1312296810
|
0.00001
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
0.00001
|
NM_003924.4(PHOX2B):c.270C>T (p.Gly90=)
|
rs1420633452
|
0.00001
|
NM_003924.4(PHOX2B):c.275T>C (p.Leu92Pro)
|
rs1477680896
|
0.00001
|
NM_003924.4(PHOX2B):c.279C>G (p.Asn93Lys)
|
rs1459081022
|
0.00001
|
NM_003924.4(PHOX2B):c.29A>G (p.Asn10Ser)
|
rs1255325771
|
0.00001
|
NM_003924.4(PHOX2B):c.300C>T (p.Arg100=)
|
rs1733946891
|
0.00001
|
NM_003924.4(PHOX2B):c.306C>G (p.Arg102=)
|
rs140002346
|
0.00001
|
NM_003924.4(PHOX2B):c.309C>G (p.Thr103=)
|
rs199611260
|
0.00001
|
NM_003924.4(PHOX2B):c.33C>T (p.Ser11=)
|
rs773982008
|
0.00001
|
NM_003924.4(PHOX2B):c.345G>A (p.Arg115=)
|
rs747055965
|
0.00001
|
NM_003924.4(PHOX2B):c.369C>G (p.Pro123=)
|
rs1733943582
|
0.00001
|
NM_003924.4(PHOX2B):c.373A>G (p.Ile125Val)
|
rs560843362
|
0.00001
|
NM_003924.4(PHOX2B):c.39C>T (p.Ala13=)
|
rs748767112
|
0.00001
|
NM_003924.4(PHOX2B):c.429+4C>T
|
rs1173248729
|
0.00001
|
NM_003924.4(PHOX2B):c.483A>C (p.Ala161=)
|
rs765027210
|
0.00001
|
NM_003924.4(PHOX2B):c.48C>T (p.Ser16=)
|
rs1383504578
|
0.00001
|
NM_003924.4(PHOX2B):c.495C>G (p.Ala165=)
|
rs1333598816
|
0.00001
|
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)
|
rs774521395
|
0.00001
|
NM_003924.4(PHOX2B):c.497C>T (p.Ala166Val)
|
rs774521395
|
0.00001
|
NM_003924.4(PHOX2B):c.508G>C (p.Gly170Arg)
|
rs775931264
|
0.00001
|
NM_003924.4(PHOX2B):c.51T>C (p.Cys17=)
|
rs1577561406
|
0.00001
|
NM_003924.4(PHOX2B):c.52A>G (p.Met18Val)
|
rs968453180
|
0.00001
|
NM_003924.4(PHOX2B):c.539G>C (p.Arg180Thr)
|
rs1395378700
|
0.00001
|
NM_003924.4(PHOX2B):c.549G>A (p.Glu183=)
|
rs770661130
|
0.00001
|
NM_003924.4(PHOX2B):c.560C>A (p.Ala187Asp)
|
rs1191400815
|
0.00001
|
NM_003924.4(PHOX2B):c.59G>C (p.Gly20Ala)
|
rs587778605
|
0.00001
|
NM_003924.4(PHOX2B):c.602A>G (p.Asn201Ser)
|
rs1018470617
|
0.00001
|
NM_003924.4(PHOX2B):c.614C>A (p.Thr205Asn)
|
rs1228610109
|
0.00001
|
NM_003924.4(PHOX2B):c.637G>A (p.Gly213Ser)
|
rs762119056
|
0.00001
|
NM_003924.4(PHOX2B):c.649_669del (p.Gly217_Ala223del)
|
rs1233756366
|
0.00001
|
NM_003924.4(PHOX2B):c.651G>T (p.Gly217=)
|
rs777081672
|
0.00001
|
NM_003924.4(PHOX2B):c.661G>A (p.Ala221Thr)
|
rs746684161
|
0.00001
|
NM_003924.4(PHOX2B):c.665G>C (p.Gly222Ala)
|
rs771563787
|
0.00001
|
NM_003924.4(PHOX2B):c.667G>T (p.Ala223Ser)
|
rs747713899
|
0.00001
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
0.00001
|
NM_003924.4(PHOX2B):c.677C>A (p.Ala226Glu)
|
rs926554947
|
0.00001
|
NM_003924.4(PHOX2B):c.680C>G (p.Ala227Gly)
|
rs779913205
|
0.00001
|
NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg)
|
rs1256766962
|
0.00001
|
NM_003924.4(PHOX2B):c.718G>A (p.Gly240Ser)
|
rs1183113572
|
0.00001
|
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val)
|
rs768420488
|
0.00001
|
NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly)
|
rs779924196
|
0.00001
|
NM_003924.4(PHOX2B):c.793G>A (p.Ala265Thr)
|
rs1010753155
|
0.00001
|
NM_003924.4(PHOX2B):c.797C>T (p.Ala266Val)
|
rs745709595
|
0.00001
|
NM_003924.4(PHOX2B):c.806C>T (p.Pro269Leu)
|
rs1350901284
|
0.00001
|
NM_003924.4(PHOX2B):c.807T>C (p.Pro269=)
|
rs755371263
|
0.00001
|
NM_003924.4(PHOX2B):c.814G>A (p.Gly272Ser)
|
rs1232625512
|
0.00001
|
NM_003924.4(PHOX2B):c.825C>G (p.Pro275=)
|
rs754362364
|
0.00001
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
0.00001
|
NM_003924.4(PHOX2B):c.831C>G (p.Pro277=)
|
rs773606043
|
0.00001
|
NM_003924.4(PHOX2B):c.865G>A (p.Gly289Ser)
|
rs769663483
|
0.00001
|
NM_003924.4(PHOX2B):c.885A>G (p.Leu295=)
|
rs748382088
|
0.00001
|
NM_003924.4(PHOX2B):c.89A>T (p.Tyr30Phe)
|
rs1449660830
|
0.00001
|
NM_003924.4(PHOX2B):c.907G>C (p.Gly303Arg)
|
rs1324644005
|
0.00001
|
NM_003924.4(PHOX2B):c.917C>A (p.Ala306Asp)
|
rs1352110516
|
0.00001
|
NM_003924.4(PHOX2B):c.924A>G (p.Leu308=)
|
rs1335997009
|
0.00001
|
NM_003924.4(PHOX2B):c.927G>A (p.Val309=)
|
rs750728938
|
0.00001
|
NM_003924.4(PHOX2B):c.932G>A (p.Ser311Asn)
|
rs762234006
|
0.00001
|
NM_003924.4(PHOX2B):c.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
NM_003924.4(PHOX2B):c.942C>T (p.Phe314=)
|
rs751212535
|
0.00001
|
NM_003924.4(PHOX2B):c.-2C>A
|
|
|
NM_003924.4(PHOX2B):c.100A>G (p.Ser34Gly)
|
rs1733985253
|
|
NM_003924.4(PHOX2B):c.114G>A (p.Gln38=)
|
rs766500239
|
|
NM_003924.4(PHOX2B):c.119G>C (p.Ser40Thr)
|
|
|
NM_003924.4(PHOX2B):c.120T>C (p.Ser40=)
|
rs756519209
|
|
NM_003924.4(PHOX2B):c.121G>A (p.Gly41Ser)
|
|
|
NM_003924.4(PHOX2B):c.121G>T (p.Gly41Cys)
|
|
|
NM_003924.4(PHOX2B):c.132T>C (p.Tyr44=)
|
|
|
NM_003924.4(PHOX2B):c.137C>G (p.Pro46Arg)
|
rs1381435898
|
|
NM_003924.4(PHOX2B):c.138G>C (p.Pro46=)
|
rs1486629336
|
|
NM_003924.4(PHOX2B):c.138G>T (p.Pro46=)
|
rs1486629336
|
|
NM_003924.4(PHOX2B):c.13G>T (p.Glu5Ter)
|
rs2153113084
|
|
NM_003924.4(PHOX2B):c.141A>G (p.Ile47Met)
|
rs1577561264
|
|
NM_003924.4(PHOX2B):c.145A>T (p.Thr49Ser)
|
|
|
NM_003924.4(PHOX2B):c.151T>C (p.Phe51Leu)
|
|
|
NM_003924.4(PHOX2B):c.153T>C (p.Phe51=)
|
rs1012348354
|
|
NM_003924.4(PHOX2B):c.153dup (p.Gly52fs)
|
|
|
NM_003924.4(PHOX2B):c.156G>C (p.Gly52=)
|
|
|
NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)
|
rs1488529123
|
|
NM_003924.4(PHOX2B):c.159C>T (p.Ala53=)
|
|
|
NM_003924.4(PHOX2B):c.161C>G (p.Thr54Arg)
|
|
|
NM_003924.4(PHOX2B):c.162G>A (p.Thr54=)
|
rs1262122327
|
|
NM_003924.4(PHOX2B):c.162G>C (p.Thr54=)
|
rs1262122327
|
|
NM_003924.4(PHOX2B):c.165C>A (p.Ser55=)
|
rs762144117
|
|
NM_003924.4(PHOX2B):c.165C>T (p.Ser55=)
|
rs762144117
|
|
NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)
|
rs1733982125
|
|
NM_003924.4(PHOX2B):c.171C>T (p.Cys57=)
|
|
|
NM_003924.4(PHOX2B):c.172C>T (p.Pro58Ser)
|
rs774739194
|
|
NM_003924.4(PHOX2B):c.174T>G (p.Pro58=)
|
rs1577561219
|
|
NM_003924.4(PHOX2B):c.17A>G (p.Tyr6Cys)
|
rs2153113082
|
|
NM_003924.4(PHOX2B):c.181A>T (p.Thr61Ser)
|
|
|
NM_003924.4(PHOX2B):c.182C>T (p.Thr61Met)
|
|
|
NM_003924.4(PHOX2B):c.183G>C (p.Thr61=)
|
rs1733981524
|
|
NM_003924.4(PHOX2B):c.183G>T (p.Thr61=)
|
rs1733981524
|
|
NM_003924.4(PHOX2B):c.184C>A (p.Pro62Thr)
|
|
|
NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala)
|
rs1458869707
|
|
NM_003924.4(PHOX2B):c.186G>C (p.Pro62=)
|
rs763699416
|
|
NM_003924.4(PHOX2B):c.186G>T (p.Pro62=)
|
rs763699416
|
|
NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)
|
rs2153113046
|
|
NM_003924.4(PHOX2B):c.189A>C (p.Gly63=)
|
|
|
NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)
|
rs1733981070
|
|
NM_003924.4(PHOX2B):c.196del (p.Ser66fs)
|
|
|
NM_003924.4(PHOX2B):c.199C>T (p.Leu67=)
|
|
|
NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)
|
|
|
NM_003924.4(PHOX2B):c.201G>C (p.Leu67=)
|
|
|
NM_003924.4(PHOX2B):c.204C>A (p.Gly68=)
|
rs1235634555
|
|
NM_003924.4(PHOX2B):c.207C>T (p.Thr69=)
|
|
|
NM_003924.4(PHOX2B):c.208dup (p.Leu70fs)
|
|
|
NM_003924.4(PHOX2B):c.210C>T (p.Leu70=)
|
|
|
NM_003924.4(PHOX2B):c.213G>A (p.Arg71=)
|
|
|
NM_003924.4(PHOX2B):c.214G>A (p.Asp72Asn)
|
rs1733980369
|
|
NM_003924.4(PHOX2B):c.216C>G (p.Asp72Glu)
|
rs1733980273
|
|
NM_003924.4(PHOX2B):c.218A>G (p.His73Arg)
|
|
|
NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)
|
|
|
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)
|
rs1577561176
|
|
NM_003924.4(PHOX2B):c.224G>A (p.Ser75Asn)
|
|
|
NM_003924.4(PHOX2B):c.228T>C (p.Ser76=)
|
|
|
NM_003924.4(PHOX2B):c.22T>C (p.Tyr8His)
|
|
|
NM_003924.4(PHOX2B):c.230C>G (p.Pro77Arg)
|
|
|
NM_003924.4(PHOX2B):c.231G>A (p.Pro77=)
|
rs376060053
|
|
NM_003924.4(PHOX2B):c.231G>C (p.Pro77=)
|
|
|
NM_003924.4(PHOX2B):c.231G>T (p.Pro77=)
|
rs376060053
|
|
NM_003924.4(PHOX2B):c.234C>A (p.Tyr78Ter)
|
|
|
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)
|
rs73810366
|
|
NM_003924.4(PHOX2B):c.235G>C (p.Ala79Pro)
|
|
|
NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)
|
|
|
NM_003924.4(PHOX2B):c.236C>T (p.Ala79Val)
|
|
|
NM_003924.4(PHOX2B):c.237C>A (p.Ala79=)
|
|
|
NM_003924.4(PHOX2B):c.237C>T (p.Ala79=)
|
|
|
NM_003924.4(PHOX2B):c.238G>T (p.Ala80Ser)
|
rs550472167
|
|
NM_003924.4(PHOX2B):c.23A>G (p.Tyr8Cys)
|
|
|
NM_003924.4(PHOX2B):c.241+5G>A
|
rs1733979107
|
|
NM_003924.4(PHOX2B):c.242-1G>A
|
|
|
NM_003924.4(PHOX2B):c.242-4C>G
|
rs1733950165
|
|
NM_003924.4(PHOX2B):c.242-5T>G
|
|
|
NM_003924.4(PHOX2B):c.246T>G (p.Pro82=)
|
rs968699857
|
|
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
|
|
|
NM_003924.4(PHOX2B):c.249C>T (p.Tyr83=)
|
rs753545181
|
|
NM_003924.4(PHOX2B):c.24C>T (p.Tyr8=)
|
rs1577561446
|
|
NM_003924.4(PHOX2B):c.250A>C (p.Lys84Gln)
|
rs2153112950
|
|
NM_003924.4(PHOX2B):c.251A>C (p.Lys84Thr)
|
|
|
NM_003924.4(PHOX2B):c.252A>G (p.Lys84=)
|
|
|
NM_003924.4(PHOX2B):c.253C>T (p.Leu85Phe)
|
rs766200980
|
|
NM_003924.4(PHOX2B):c.255C>G (p.Leu85=)
|
rs1577560410
|
|
NM_003924.4(PHOX2B):c.255C>T (p.Leu85=)
|
|
|
NM_003924.4(PHOX2B):c.256T>A (p.Phe86Ile)
|
rs1733949305
|
|
NM_003924.4(PHOX2B):c.259A>C (p.Thr87Pro)
|
|
|
NM_003924.4(PHOX2B):c.259A>G (p.Thr87Ala)
|
|
|
NM_003924.4(PHOX2B):c.261G>C (p.Thr87=)
|
rs996060917
|
|
NM_003924.4(PHOX2B):c.261G>T (p.Thr87=)
|
|
|
NM_003924.4(PHOX2B):c.262G>C (p.Asp88His)
|
rs1402111533
|
|
NM_003924.4(PHOX2B):c.265C>T (p.His89Tyr)
|
rs755664325
|
|
NM_003924.4(PHOX2B):c.266A>T (p.His89Leu)
|
|
|
NM_003924.4(PHOX2B):c.269G>A (p.Gly90Asp)
|
|
|
NM_003924.4(PHOX2B):c.26T>C (p.Leu9Pro)
|
|
|
NM_003924.4(PHOX2B):c.270C>G (p.Gly90=)
|
rs1420633452
|
|
NM_003924.4(PHOX2B):c.275T>A (p.Leu92His)
|
|
|
NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly)
|
rs1450088667
|
|
NM_003924.4(PHOX2B):c.286C>T (p.Arg96Cys)
|
|
|
NM_003924.4(PHOX2B):c.287G>C (p.Arg96Pro)
|
|
|
NM_003924.4(PHOX2B):c.287G>T (p.Arg96Leu)
|
|
|
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)
|
rs1733947320
|
|
NM_003924.4(PHOX2B):c.293A>G (p.Gln98Arg)
|
rs1577560359
|
|
NM_003924.4(PHOX2B):c.295C>T (p.Arg99Trp)
|
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
NM_003924.4(PHOX2B):c.301A>G (p.Ile101Val)
|
|
|
NM_003924.4(PHOX2B):c.302T>C (p.Ile101Thr)
|
rs1560466295
|
|
NM_003924.4(PHOX2B):c.304C>T (p.Arg102Cys)
|
rs2153112943
|
|
NM_003924.4(PHOX2B):c.305G>T (p.Arg102Leu)
|
|
|
NM_003924.4(PHOX2B):c.306C>T (p.Arg102=)
|
rs140002346
|
|
NM_003924.4(PHOX2B):c.309C>T (p.Thr103=)
|
|
|
NM_003924.4(PHOX2B):c.322G>A (p.Ala108Thr)
|
|
|
NM_003924.4(PHOX2B):c.324C>G (p.Ala108=)
|
|
|
NM_003924.4(PHOX2B):c.324C>T (p.Ala108=)
|
|
|
NM_003924.4(PHOX2B):c.336G>C (p.Glu112Asp)
|
|
|
NM_003924.4(PHOX2B):c.336G>T (p.Glu112Asp)
|
|
|
NM_003924.4(PHOX2B):c.339G>A (p.Leu113=)
|
|
|
NM_003924.4(PHOX2B):c.341A>C (p.Glu114Ala)
|
rs1733945578
|
|
NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys)
|
rs1347766910
|
|
NM_003924.4(PHOX2B):c.344G>C (p.Arg115Thr)
|
rs1347766910
|
|
NM_003924.4(PHOX2B):c.346G>A (p.Val116Ile)
|
|
|
NM_003924.4(PHOX2B):c.34T>C (p.Ser12Pro)
|
|
|
NM_003924.4(PHOX2B):c.351C>T (p.Phe117=)
|
rs1169134483
|
|
NM_003924.4(PHOX2B):c.354G>A (p.Ala118=)
|
|
|
NM_003924.4(PHOX2B):c.360T>G (p.Thr120=)
|
rs1246343669
|
|
NM_003924.4(PHOX2B):c.360_362del (p.His121del)
|
rs2153112938
|
|
NM_003924.4(PHOX2B):c.362A>G (p.His121Arg)
|
|
|
NM_003924.4(PHOX2B):c.366C>T (p.Tyr122=)
|
|
|
NM_003924.4(PHOX2B):c.369C>T (p.Pro123=)
|
rs1733943582
|
|
NM_003924.4(PHOX2B):c.36T>C (p.Ser12=)
|
|
|
NM_003924.4(PHOX2B):c.370G>A (p.Asp124Asn)
|
|
|
NM_003924.4(PHOX2B):c.372C>T (p.Asp124=)
|
|
|
NM_003924.4(PHOX2B):c.375C>T (p.Ile125=)
|
|
|
NM_003924.4(PHOX2B):c.378C>T (p.Tyr126=)
|
rs2153112935
|
|
NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn)
|
rs2153112934
|
|
NM_003924.4(PHOX2B):c.380C>G (p.Thr127Ser)
|
|
|
NM_003924.4(PHOX2B):c.381T>C (p.Thr127=)
|
rs772579725
|
|
NM_003924.4(PHOX2B):c.391del (p.Leu131fs)
|
|
|
NM_003924.4(PHOX2B):c.393G>A (p.Leu131=)
|
rs779269711
|
|
NM_003924.4(PHOX2B):c.398T>A (p.Leu133Gln)
|
rs1553898022
|
|
NM_003924.4(PHOX2B):c.3G>A (p.Met1Ile)
|
|
|
NM_003924.4(PHOX2B):c.400A>C (p.Lys134Gln)
|
|
|
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)
|
rs1400901317
|
|
NM_003924.4(PHOX2B):c.404T>A (p.Ile135Asn)
|
rs2153112927
|
|
NM_003924.4(PHOX2B):c.405C>A (p.Ile135=)
|
|
|
NM_003924.4(PHOX2B):c.405C>T (p.Ile135=)
|
rs147497096
|
|
NM_003924.4(PHOX2B):c.406G>C (p.Asp136His)
|
|
|
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=)
|
rs1577560212
|
|
NM_003924.4(PHOX2B):c.414A>C (p.Thr138=)
|
|
|
NM_003924.4(PHOX2B):c.414A>G (p.Thr138=)
|
|
|
NM_003924.4(PHOX2B):c.417G>A (p.Glu139=)
|
|
|
NM_003924.4(PHOX2B):c.417G>C (p.Glu139Asp)
|
rs1577560190
|
|
NM_003924.4(PHOX2B):c.420G>A (p.Ala140=)
|
rs1577560187
|
|
NM_003924.4(PHOX2B):c.420G>C (p.Ala140=)
|
|
|
NM_003924.4(PHOX2B):c.421C>A (p.Arg141=)
|
rs28939716
|
|
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)
|
rs1733941453
|
|
NM_003924.4(PHOX2B):c.423A>C (p.Arg141=)
|
rs2153112921
|
|
NM_003924.4(PHOX2B):c.428A>G (p.Gln143Arg)
|
|
|
NM_003924.4(PHOX2B):c.428dup (p.Val144fs)
|
|
|
NM_003924.4(PHOX2B):c.429+1G>A
|
|
|
NM_003924.4(PHOX2B):c.429+1G>T
|
|
|
NM_003924.4(PHOX2B):c.429+4C>A
|
rs1173248729
|
|
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
|
|
|
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=)
|
rs775101470
|
|
NM_003924.4(PHOX2B):c.430-5G>A
|
rs751132977
|
|
NM_003924.4(PHOX2B):c.430-7G>A
|
|
|
NM_003924.4(PHOX2B):c.432_433delinsTC (p.Trp145Arg)
|
|
|
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)
|
rs2153112821
|
|
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
|
rs1733899167
|
|
NM_003924.4(PHOX2B):c.450C>A (p.Arg150=)
|
rs17881486
|
|
NM_003924.4(PHOX2B):c.452C>T (p.Ala151Val)
|
|
|
NM_003924.4(PHOX2B):c.453C>A (p.Ala151=)
|
|
|
NM_003924.4(PHOX2B):c.453C>T (p.Ala151=)
|
rs1577559389
|
|
NM_003924.4(PHOX2B):c.45G>A (p.Glu15=)
|
rs769573717
|
|
NM_003924.4(PHOX2B):c.465G>A (p.Lys155=)
|
|
|
NM_003924.4(PHOX2B):c.466C>G (p.Gln156Glu)
|
|
|
NM_003924.4(PHOX2B):c.466C>T (p.Gln156Ter)
|
|
|
NM_003924.4(PHOX2B):c.469G>C (p.Glu157Gln)
|
|
|
NM_003924.4(PHOX2B):c.470A>G (p.Glu157Gly)
|
|
|
NM_003924.4(PHOX2B):c.474C>A (p.Arg158=)
|
|
|
NM_003924.4(PHOX2B):c.475G>A (p.Ala159Thr)
|
|
|
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)
|
rs1162776926
|
|
NM_003924.4(PHOX2B):c.477A>C (p.Ala159=)
|
|
|
NM_003924.4(PHOX2B):c.479C>G (p.Ala160Gly)
|
rs1577559372
|
|
NM_003924.4(PHOX2B):c.479C>T (p.Ala160Val)
|
rs1577559372
|
|
NM_003924.4(PHOX2B):c.47C>A (p.Ser16Tyr)
|
|
|
NM_003924.4(PHOX2B):c.480G>A (p.Ala160=)
|
rs752437432
|
|
NM_003924.4(PHOX2B):c.480G>C (p.Ala160=)
|
rs752437432
|
|
NM_003924.4(PHOX2B):c.480G>T (p.Ala160=)
|
|
|
NM_003924.4(PHOX2B):c.482C>T (p.Ala161Val)
|
|
|
NM_003924.4(PHOX2B):c.486C>A (p.Ala162=)
|
rs547677836
|
|
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=)
|
rs547677836
|
|
NM_003924.4(PHOX2B):c.486_497dup (p.Ala164_Ala167dup)
|
rs1733897154
|
|
NM_003924.4(PHOX2B):c.487G>T (p.Ala163Ser)
|
rs767837376
|
|
NM_003924.4(PHOX2B):c.489A>G (p.Ala163=)
|
|
|
NM_003924.4(PHOX2B):c.491C>G (p.Ala164Gly)
|
|
|
NM_003924.4(PHOX2B):c.492G>A (p.Ala164=)
|
|
|
NM_003924.4(PHOX2B):c.492G>C (p.Ala164=)
|
|
|
NM_003924.4(PHOX2B):c.495C>T (p.Ala165=)
|
rs1333598816
|
|
NM_003924.4(PHOX2B):c.496G>A (p.Ala166Thr)
|
|
|
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)
|
rs1338837491
|
|
NM_003924.4(PHOX2B):c.500C>T (p.Ala167Val)
|
|
|
NM_003924.4(PHOX2B):c.504G>A (p.Lys168=)
|
|
|
NM_003924.4(PHOX2B):c.507C>A (p.Asn169Lys)
|
rs2153112810
|
|
NM_003924.4(PHOX2B):c.507C>T (p.Asn169=)
|
|
|
NM_003924.4(PHOX2B):c.508G>A (p.Gly170Ser)
|
rs775931264
|
|
NM_003924.4(PHOX2B):c.508G>T (p.Gly170Cys)
|
rs775931264
|
|
NM_003924.4(PHOX2B):c.509G>T (p.Gly170Val)
|
|
|
NM_003924.4(PHOX2B):c.50G>A (p.Cys17Tyr)
|
|
|
NM_003924.4(PHOX2B):c.510C>T (p.Gly170=)
|
rs2153112808
|
|
NM_003924.4(PHOX2B):c.511T>C (p.Ser171Pro)
|
|
|
NM_003924.4(PHOX2B):c.512C>T (p.Ser171Phe)
|
|
|
NM_003924.4(PHOX2B):c.513C>T (p.Ser171=)
|
|
|
NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu)
|
rs1560465736
|
|
NM_003924.4(PHOX2B):c.516G>A (p.Ser172=)
|
|
|
NM_003924.4(PHOX2B):c.516G>C (p.Ser172=)
|
|
|
NM_003924.4(PHOX2B):c.517G>A (p.Gly173Ser)
|
|
|
NM_003924.4(PHOX2B):c.520A>G (p.Lys174Glu)
|
rs1733895906
|
|
NM_003924.4(PHOX2B):c.524A>G (p.Lys175Arg)
|
rs1060501119
|
|
NM_003924.4(PHOX2B):c.524A>T (p.Lys175Met)
|
rs1060501119
|
|
NM_003924.4(PHOX2B):c.527C>T (p.Ser176Phe)
|
|
|
NM_003924.4(PHOX2B):c.528_530del (p.Asp177del)
|
|
|
NM_003924.4(PHOX2B):c.533C>T (p.Ser178Phe)
|
rs2153112806
|
|
NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn)
|
rs1462979811
|
|
NM_003924.4(PHOX2B):c.546C>T (p.Asp182=)
|
|
|
NM_003924.4(PHOX2B):c.547G>A (p.Glu183Lys)
|
|
|
NM_003924.4(PHOX2B):c.547G>T (p.Glu183Ter)
|
|
|
NM_003924.4(PHOX2B):c.54G>A (p.Met18Ile)
|
rs2153113073
|
|
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)
|
rs1733894415
|
|
NM_003924.4(PHOX2B):c.553A>G (p.Lys185Glu)
|
rs1733894210
|
|
NM_003924.4(PHOX2B):c.556G>A (p.Glu186Lys)
|
rs1560465720
|
|
NM_003924.4(PHOX2B):c.558G>A (p.Glu186=)
|
rs1428966376
|
|
NM_003924.4(PHOX2B):c.561C>A (p.Ala187=)
|
|
|
NM_003924.4(PHOX2B):c.564G>A (p.Lys188=)
|
|
|
NM_003924.4(PHOX2B):c.568A>T (p.Thr190Ser)
|
|
|
NM_003924.4(PHOX2B):c.56C>A (p.Ala19Asp)
|
|
|
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)
|
rs1353983410
|
|
NM_003924.4(PHOX2B):c.570T>C (p.Thr190=)
|
|
|
NM_003924.4(PHOX2B):c.571G>C (p.Asp191His)
|
|
|
NM_003924.4(PHOX2B):c.576G>A (p.Pro192=)
|
rs1733892582
|
|
NM_003924.4(PHOX2B):c.577G>C (p.Asp193His)
|
rs1577559273
|
|
NM_003924.4(PHOX2B):c.577del (p.Asp193fs)
|
|
|
NM_003924.4(PHOX2B):c.579C>A (p.Asp193Glu)
|
rs1733892452
|
|
NM_003924.4(PHOX2B):c.579C>G (p.Asp193Glu)
|
rs1733892452
|
|
NM_003924.4(PHOX2B):c.579C>T (p.Asp193=)
|
|
|
NM_003924.4(PHOX2B):c.57T>C (p.Ala19=)
|
|
|
NM_003924.4(PHOX2B):c.582C>A (p.Ser194Arg)
|
|
|
NM_003924.4(PHOX2B):c.584C>A (p.Thr195Asn)
|
|
|
NM_003924.4(PHOX2B):c.586G>A (p.Gly196Arg)
|
|
|
NM_003924.4(PHOX2B):c.587G>A (p.Gly196Glu)
|
|
|
NM_003924.4(PHOX2B):c.590G>A (p.Gly197Asp)
|
rs104893856
|
|
NM_003924.4(PHOX2B):c.590G>T (p.Gly197Val)
|
rs104893856
|
|
NM_003924.4(PHOX2B):c.591C>A (p.Gly197=)
|
rs144414806
|
|
NM_003924.4(PHOX2B):c.591C>T (p.Gly197=)
|
|
|
NM_003924.4(PHOX2B):c.597TCCCAA[3] (p.Pro204_Thr205insAsnPro)
|
|
|
NM_003924.4(PHOX2B):c.5A>G (p.Tyr2Cys)
|
rs2153113087
|
|
NM_003924.4(PHOX2B):c.600C>G (p.Pro200=)
|
rs2153112798
|
|
NM_003924.4(PHOX2B):c.600C>T (p.Pro200=)
|
|
|
NM_003924.4(PHOX2B):c.604C>G (p.Pro202Ala)
|
|
|
NM_003924.4(PHOX2B):c.605C>G (p.Pro202Arg)
|
|
|
NM_003924.4(PHOX2B):c.606C>T (p.Pro202=)
|
|
|
NM_003924.4(PHOX2B):c.608A>G (p.Asn203Ser)
|
rs778887680
|
|
NM_003924.4(PHOX2B):c.609C>A (p.Asn203Lys)
|
|
|
NM_003924.4(PHOX2B):c.610C>A (p.Pro204Thr)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.610C>G (p.Pro204Ala)
|
rs1292727082
|
|
NM_003924.4(PHOX2B):c.612C>T (p.Pro204=)
|
|
|
NM_003924.4(PHOX2B):c.613A>C (p.Thr205Pro)
|
|
|
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
|
|
|
NM_003924.4(PHOX2B):c.614C>T (p.Thr205Ile)
|
|
|
NM_003924.4(PHOX2B):c.614_619dup (p.Pro206_Ser207insThrPro)
|
|
|
NM_003924.4(PHOX2B):c.615C>T (p.Thr205=)
|
|
|
NM_003924.4(PHOX2B):c.616C>T (p.Pro206Ser)
|
rs754754489
|
|
NM_003924.4(PHOX2B):c.617C>G (p.Pro206Arg)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.617C>T (p.Pro206Leu)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.618C>T (p.Pro206=)
|
|
|
NM_003924.4(PHOX2B):c.621C>T (p.Ser207=)
|
|
|
NM_003924.4(PHOX2B):c.624C>T (p.Cys208=)
|
rs1060504149
|
|
NM_003924.4(PHOX2B):c.626G>A (p.Gly209Glu)
|
|
|
NM_003924.4(PHOX2B):c.627G>T (p.Gly209=)
|
|
|
NM_003924.4(PHOX2B):c.628G>C (p.Ala210Pro)
|
|
|
NM_003924.4(PHOX2B):c.630G>T (p.Ala210=)
|
rs370087972
|
|
NM_003924.4(PHOX2B):c.632A>G (p.Asn211Ser)
|
rs1733890628
|
|
NM_003924.4(PHOX2B):c.632A>T (p.Asn211Ile)
|
|
|
NM_003924.4(PHOX2B):c.633T>C (p.Asn211=)
|
|
|
NM_003924.4(PHOX2B):c.633T>G (p.Asn211Lys)
|
rs1060501120
|
|
NM_003924.4(PHOX2B):c.635G>A (p.Gly212Glu)
|
|
|
NM_003924.4(PHOX2B):c.635G>C (p.Gly212Ala)
|
rs1733890495
|
|
NM_003924.4(PHOX2B):c.636A>G (p.Gly212=)
|
|
|
NM_003924.4(PHOX2B):c.638G>A (p.Gly213Asp)
|
rs1328014263
|
|
NM_003924.4(PHOX2B):c.639C>A (p.Gly213=)
|
rs17879258
|
|
NM_003924.4(PHOX2B):c.639C>T (p.Gly213=)
|
rs17879258
|
|
NM_003924.4(PHOX2B):c.639CGG[3] (p.Gly217del)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.63G>A (p.Met21Ile)
|
|
|
NM_003924.4(PHOX2B):c.641G>A (p.Gly214Asp)
|
|
|
NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala)
|
rs1733890084
|
|
NM_003924.4(PHOX2B):c.641_642delinsAA (p.Gly214Glu)
|
rs1733890028
|
|
NM_003924.4(PHOX2B):c.642C>A (p.Gly214=)
|
|
|
NM_003924.4(PHOX2B):c.643G>C (p.Gly215Arg)
|
|
|
NM_003924.4(PHOX2B):c.644G>A (p.Gly215Asp)
|
rs2153112790
|
|
NM_003924.4(PHOX2B):c.645C>A (p.Gly215=)
|
|
|
NM_003924.4(PHOX2B):c.645C>T (p.Gly215=)
|
rs1577559183
|
|
NM_003924.4(PHOX2B):c.646G>A (p.Gly216Ser)
|
rs2153112789
|
|
NM_003924.4(PHOX2B):c.646G>T (p.Gly216Cys)
|
|
|
NM_003924.4(PHOX2B):c.648C>T (p.Gly216=)
|
rs1010286039
|
|
NM_003924.4(PHOX2B):c.649G>C (p.Gly217Arg)
|
rs759792321
|
|
NM_003924.4(PHOX2B):c.649G>T (p.Gly217Trp)
|
|
|
NM_003924.4(PHOX2B):c.650G>A (p.Gly217Glu)
|
|
|
NM_003924.4(PHOX2B):c.652C>T (p.Pro218Ser)
|
|
|
NM_003924.4(PHOX2B):c.652_683del (p.Pro218fs)
|
|
|
NM_003924.4(PHOX2B):c.653C>G (p.Pro218Arg)
|
|
|
NM_003924.4(PHOX2B):c.654C>T (p.Pro218=)
|
rs770437869
|
|
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)
|
rs1194972256
|
|
NM_003924.4(PHOX2B):c.657C>T (p.Ser219=)
|
|
|
NM_003924.4(PHOX2B):c.658C>T (p.Pro220Ser)
|
|
|
NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln)
|
|
|
NM_003924.4(PHOX2B):c.659C>G (p.Pro220Arg)
|
rs1733887201
|
|
NM_003924.4(PHOX2B):c.659C>T (p.Pro220Leu)
|
rs1733887201
|
|
NM_003924.4(PHOX2B):c.660G>A (p.Pro220=)
|
rs1435630597
|
|
NM_003924.4(PHOX2B):c.660G>C (p.Pro220=)
|
|
|
NM_003924.4(PHOX2B):c.663T>C (p.Ala221=)
|
|
|
NM_003924.4(PHOX2B):c.669T>G (p.Ala223=)
|
rs1553897837
|
|
NM_003924.4(PHOX2B):c.669_671del (p.Pro224del)
|
|
|
NM_003924.4(PHOX2B):c.66C>T (p.Asp22=)
|
rs2153113068
|
|
NM_003924.4(PHOX2B):c.672G>A (p.Pro224=)
|
rs1348881057
|
|
NM_003924.4(PHOX2B):c.672G>C (p.Pro224=)
|
rs1348881057
|
|
NM_003924.4(PHOX2B):c.672G>T (p.Pro224=)
|
|
|
NM_003924.4(PHOX2B):c.674G>A (p.Gly225Glu)
|
|
|
NM_003924.4(PHOX2B):c.674G>C (p.Gly225Ala)
|
|
|
NM_003924.4(PHOX2B):c.675G>A (p.Gly225=)
|
rs1577559129
|
|
NM_003924.4(PHOX2B):c.675G>T (p.Gly225=)
|
rs1577559129
|
|
NM_003924.4(PHOX2B):c.676G>A (p.Ala226Thr)
|
rs936469212
|
|
NM_003924.4(PHOX2B):c.676del (p.Ala226fs)
|
|
|
NM_003924.4(PHOX2B):c.677C>G (p.Ala226Gly)
|
|
|
NM_003924.4(PHOX2B):c.678G>A (p.Ala226=)
|
|
|
NM_003924.4(PHOX2B):c.678G>C (p.Ala226=)
|
rs1577559118
|
|
NM_003924.4(PHOX2B):c.678G>T (p.Ala226=)
|
rs1577559118
|
|
NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr)
|
rs778799670
|
|
NM_003924.4(PHOX2B):c.679_680delinsTT (p.Ala227Leu)
|
rs1577559108
|
|
NM_003924.4(PHOX2B):c.67A>C (p.Thr23Pro)
|
|
|
NM_003924.4(PHOX2B):c.680C>T (p.Ala227Val)
|
|
|
NM_003924.4(PHOX2B):c.681G>A (p.Ala227=)
|
rs878854617
|
|
NM_003924.4(PHOX2B):c.682G>C (p.Gly228Arg)
|
|
|
NM_003924.4(PHOX2B):c.684G>A (p.Gly228=)
|
|
|
NM_003924.4(PHOX2B):c.685C>A (p.Pro229Thr)
|
rs1328080249
|
|
NM_003924.4(PHOX2B):c.685C>T (p.Pro229Ser)
|
|
|
NM_003924.4(PHOX2B):c.686C>A (p.Pro229His)
|
|
|
NM_003924.4(PHOX2B):c.687C>G (p.Pro229=)
|
rs1391920139
|
|
NM_003924.4(PHOX2B):c.688G>A (p.Gly230Arg)
|
rs1733884523
|
|
NM_003924.4(PHOX2B):c.688G>C (p.Gly230Arg)
|
rs1733884523
|
|
NM_003924.4(PHOX2B):c.689G>A (p.Gly230Glu)
|
rs1577559086
|
|
NM_003924.4(PHOX2B):c.689G>C (p.Gly230Ala)
|
rs1577559086
|
|
NM_003924.4(PHOX2B):c.68C>G (p.Thr23Ser)
|
rs1389889634
|
|
NM_003924.4(PHOX2B):c.690G>A (p.Gly230=)
|
rs1553897816
|
|
NM_003924.4(PHOX2B):c.691G>A (p.Gly231Ser)
|
rs1577559082
|
|
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)
|
rs2153112779
|
|
NM_003924.4(PHOX2B):c.693C>G (p.Gly231=)
|
|
|
NM_003924.4(PHOX2B):c.693C>T (p.Gly231=)
|
|
|
NM_003924.4(PHOX2B):c.694C>A (p.Pro232Thr)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.694C>G (p.Pro232Ala)
|
rs1433654836
|
|
NM_003924.4(PHOX2B):c.695C>G (p.Pro232Arg)
|
|
|
NM_003924.4(PHOX2B):c.696G>C (p.Pro232=)
|
|
|
NM_003924.4(PHOX2B):c.6T>C (p.Tyr2=)
|
|
|
NM_003924.4(PHOX2B):c.700G>A (p.Gly234Ser)
|
rs1289310797
|
|
NM_003924.4(PHOX2B):c.702C>G (p.Gly234=)
|
rs1293065990
|
|
NM_003924.4(PHOX2B):c.702C>T (p.Gly234=)
|
|
|
NM_003924.4(PHOX2B):c.702_714dup (p.Gly239fs)
|
|
|
NM_003924.4(PHOX2B):c.703G>C (p.Glu235Gln)
|
|
|
NM_003924.4(PHOX2B):c.708C>G (p.Pro236=)
|
rs949110097
|
|
NM_003924.4(PHOX2B):c.708C>T (p.Pro236=)
|
rs949110097
|
|
NM_003924.4(PHOX2B):c.709G>A (p.Gly237Ser)
|
rs1256766962
|
|
NM_003924.4(PHOX2B):c.70T>C (p.Ser24Pro)
|
rs200971068
|
|
NM_003924.4(PHOX2B):c.710G>A (p.Gly237Asp)
|
rs1468135641
|
|
NM_003924.4(PHOX2B):c.711C>G (p.Gly237=)
|
|
|
NM_003924.4(PHOX2B):c.712A>C (p.Lys238Gln)
|
|
|
NM_003924.4(PHOX2B):c.714G>T (p.Lys238Asn)
|
rs1553897810
|
|
NM_003924.4(PHOX2B):c.715G>A (p.Gly239Ser)
|
rs1577559055
|
|
NM_003924.4(PHOX2B):c.715G>T (p.Gly239Cys)
|
rs1577559055
|
|
NM_003924.4(PHOX2B):c.716G>A (p.Gly239Asp)
|
rs1577559052
|
|
NM_003924.4(PHOX2B):c.717C>T (p.Gly239=)
|
|
|
NM_003924.4(PHOX2B):c.718G>C (p.Gly240Arg)
|
|
|
NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)
|
rs1183113572
|
|
NM_003924.4(PHOX2B):c.71C>G (p.Ser24Trp)
|
rs1577561345
|
|
NM_003924.4(PHOX2B):c.720C>T (p.Gly240=)
|
rs2153112774
|
|
NM_003924.4(PHOX2B):c.723A>C (p.Ala241=)
|
|
|
NM_003924.4(PHOX2B):c.723A>T (p.Ala241=)
|
|
|
NM_003924.4(PHOX2B):c.72G>A (p.Ser24=)
|
rs910430385
|
|
NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr)
|
rs2153113067
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003924.4(PHOX2B):c.76C>T (p.Leu26=)
|
|
|
NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)
|
rs1383528417
|
|
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
|
|
|
NM_003924.4(PHOX2B):c.782G>C (p.Gly261Ala)
|
|
|
NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp)
|
rs768420488
|
|
NM_003924.4(PHOX2B):c.787C>T (p.Leu263=)
|
rs749254001
|
|
NM_003924.4(PHOX2B):c.789G>C (p.Leu263=)
|
|
|
NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser)
|
rs1320695099
|
|
NM_003924.4(PHOX2B):c.791C>A (p.Ala264Asp)
|
|
|
NM_003924.4(PHOX2B):c.795G>C (p.Ala265=)
|
rs1440737466
|
|
NM_003924.4(PHOX2B):c.795G>T (p.Ala265=)
|
rs1440737466
|
|
NM_003924.4(PHOX2B):c.796G>A (p.Ala266Thr)
|
|
|
NM_003924.4(PHOX2B):c.800G>C (p.Gly267Ala)
|
|
|
NM_003924.4(PHOX2B):c.801G>A (p.Gly267=)
|
rs778114366
|
|
NM_003924.4(PHOX2B):c.802G>A (p.Gly268Ser)
|
rs758728895
|
|
NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)
|
rs765369462
|
|
NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)
|
rs765369462
|
|
NM_003924.4(PHOX2B):c.805C>T (p.Pro269Ser)
|
|
|
NM_003924.4(PHOX2B):c.806C>G (p.Pro269Arg)
|
|
|
NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu)
|
rs1577558821
|
|
NM_003924.4(PHOX2B):c.810A>C (p.Gly270=)
|
|
|
NM_003924.4(PHOX2B):c.810_813delinsCTGC (p.Gln271Cys)
|
|
|
NM_003924.4(PHOX2B):c.811_847del (p.Gln271fs)
|
rs1733869585
|
|
NM_003924.4(PHOX2B):c.812A>C (p.Gln271Pro)
|
rs1334079108
|
|
NM_003924.4(PHOX2B):c.812A>G (p.Gln271Arg)
|
|
|
NM_003924.4(PHOX2B):c.815G>A (p.Gly272Asp)
|
rs1355806826
|
|
NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val)
|
rs1355806826
|
|
NM_003924.4(PHOX2B):c.821C>T (p.Ala274Val)
|
|
|
NM_003924.4(PHOX2B):c.823C>G (p.Pro275Ala)
|
|
|
NM_003924.4(PHOX2B):c.824C>T (p.Pro275Leu)
|
|
|
NM_003924.4(PHOX2B):c.825C>T (p.Pro275=)
|
|
|
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
|
rs752879767
|
|
NM_003924.4(PHOX2B):c.828C>A (p.Gly276=)
|
|
|
NM_003924.4(PHOX2B):c.828C>T (p.Gly276=)
|
|
|
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)
|
rs1469920302
|
|
NM_003924.4(PHOX2B):c.830C>G (p.Pro277Arg)
|
|
|
NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu)
|
rs1733871030
|
|
NM_003924.4(PHOX2B):c.831C>T (p.Pro277=)
|
|
|
NM_003924.4(PHOX2B):c.833G>T (p.Gly278Val)
|
rs1577558795
|
|
NM_003924.4(PHOX2B):c.833_838dup (p.Pro279_Ile280insSerPro)
|
rs2153112747
|
|
NM_003924.4(PHOX2B):c.836C>A (p.Pro279His)
|
|
|
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
|
rs1733870310
|
|
NM_003924.4(PHOX2B):c.836_843del (p.Pro279fs)
|
|
|
NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro)
|
rs1733869871
|
|
NM_003924.4(PHOX2B):c.842C>A (p.Thr281Asn)
|
rs1577558782
|
|
NM_003924.4(PHOX2B):c.842C>T (p.Thr281Ile)
|
|
|
NM_003924.4(PHOX2B):c.843C>T (p.Thr281=)
|
rs2153112745
|
|
NM_003924.4(PHOX2B):c.845C>G (p.Ser282Cys)
|
rs1577558774
|
|
NM_003924.4(PHOX2B):c.848T>A (p.Ile283Asn)
|
rs2153112744
|
|
NM_003924.4(PHOX2B):c.848T>C (p.Ile283Thr)
|
|
|
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
|
rs1733869488
|
|
NM_003924.4(PHOX2B):c.849C>T (p.Ile283=)
|
|
|
NM_003924.4(PHOX2B):c.84A>G (p.Ser28=)
|
rs2153113066
|
|
NM_003924.4(PHOX2B):c.850C>G (p.Pro284Ala)
|
rs2153112743
|
|
NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
|
rs1462459716
|
|
NM_003924.4(PHOX2B):c.858G>A (p.Ser286=)
|
rs1475326335
|
|
NM_003924.4(PHOX2B):c.858G>T (p.Ser286=)
|
|
|
NM_003924.4(PHOX2B):c.859C>T (p.Leu287Phe)
|
|
|
NM_003924.4(PHOX2B):c.860T>G (p.Leu287Arg)
|
|
|
NM_003924.4(PHOX2B):c.861T>C (p.Leu287=)
|
|
|
NM_003924.4(PHOX2B):c.863G>C (p.Gly288Ala)
|
|
|
NM_003924.4(PHOX2B):c.866G>T (p.Gly289Val)
|
|
|
NM_003924.4(PHOX2B):c.867T>C (p.Gly289=)
|
|
|
NM_003924.4(PHOX2B):c.870C>T (p.Pro290=)
|
rs17885864
|
|
NM_003924.4(PHOX2B):c.876C>T (p.Ala292=)
|
|
|
NM_003924.4(PHOX2B):c.877A>G (p.Ser293Gly)
|
|
|
NM_003924.4(PHOX2B):c.879C>A (p.Ser293Arg)
|
rs1577558732
|
|
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=)
|
rs1336670718
|
|
NM_003924.4(PHOX2B):c.87C>G (p.Ala29=)
|
|
|
NM_003924.4(PHOX2B):c.87C>T (p.Ala29=)
|
|
|
NM_003924.4(PHOX2B):c.882C>T (p.Val294=)
|
|
|
NM_003924.4(PHOX2B):c.883C>T (p.Leu295=)
|
|
|
NM_003924.4(PHOX2B):c.884T>C (p.Leu295Pro)
|
|
|
NM_003924.4(PHOX2B):c.887C>G (p.Ser296Cys)
|
|
|
NM_003924.4(PHOX2B):c.888T>C (p.Ser296=)
|
|
|
NM_003924.4(PHOX2B):c.888T>G (p.Ser296=)
|
|
|
NM_003924.4(PHOX2B):c.891G>T (p.Ser297=)
|
|
|
NM_003924.4(PHOX2B):c.894C>T (p.Leu298=)
|
|
|
NM_003924.4(PHOX2B):c.903C>G (p.Pro301=)
|
|
|
NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)
|
rs1577558708
|
|
NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr)
|
rs779068107
|
|
NM_003924.4(PHOX2B):c.906C>T (p.Asn302=)
|
|
|
NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)
|
|
|
NM_003924.4(PHOX2B):c.909T>C (p.Gly303=)
|
|
|
NM_003924.4(PHOX2B):c.914A>C (p.Lys305Thr)
|
|
|
NM_003924.4(PHOX2B):c.918C>A (p.Ala306=)
|
rs753912150
|
|
NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr)
|
rs780578509
|
|
NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser)
|
rs780578509
|
|
NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)
|
rs1420729662
|
|
NM_003924.4(PHOX2B):c.921C>T (p.Ala307=)
|
|
|
NM_003924.4(PHOX2B):c.922T>C (p.Leu308=)
|
|
|
NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)
|
rs756644504
|
|
NM_003924.4(PHOX2B):c.925G>C (p.Val309Leu)
|
rs756644504
|
|
NM_003924.4(PHOX2B):c.926T>C (p.Val309Ala)
|
|
|
NM_003924.4(PHOX2B):c.931_935del (p.Ser311fs)
|
|
|
NM_003924.4(PHOX2B):c.933C>T (p.Ser311=)
|
rs2153112725
|
|
NM_003924.4(PHOX2B):c.938T>A (p.Met313Lys)
|
|
|
NM_003924.4(PHOX2B):c.938T>C (p.Met313Thr)
|
|
|
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
|
rs1733865401
|
|
NM_003924.4(PHOX2B):c.945A>G (p.Ter315Trp)
|
rs1553897738
|
|
NM_003924.4(PHOX2B):c.96C>A (p.Asp32Glu)
|
|
|
NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)
|
|
|
NM_003924.4(PHOX2B):c.99C>T (p.Phe33=)
|
rs779251110
|
|