|
NM_003924.4(PHOX2B):c.*1364G>A
|
rs6826373
|
0.43664
|
|
NM_003924.4(PHOX2B):c.*1387C>T
|
rs11723860
|
0.26435
|
|
NM_003924.4(PHOX2B):c.*674dup
|
rs397840867
|
0.15674
|
|
NM_003924.4(PHOX2B):c.*1662A>T
|
rs1063611
|
0.04731
|
|
NM_003924.4(PHOX2B):c.*1347A>G
|
rs62412180
|
0.04283
|
|
NM_003924.4(PHOX2B):c.*600T>G
|
rs73139116
|
0.03760
|
|
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)
|
rs17885864
|
0.03243
|
|
NM_003924.4(PHOX2B):c.*1381C>T
|
rs59260453
|
0.01423
|
|
NM_003924.4(PHOX2B):c.*161G>A
|
rs114290493
|
0.01029
|
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
|
NM_003924.4(PHOX2B):c.*80G>A
|
rs75913938
|
0.00612
|
|
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)
|
rs17881486
|
0.00412
|
|
NM_003924.4(PHOX2B):c.*278T>A
|
rs73810341
|
0.00395
|
|
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)
|
rs73810366
|
0.00361
|
|
NM_003924.4(PHOX2B):c.*1126C>G
|
rs118046131
|
0.00341
|
|
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.*60G>A
|
rs558416040
|
0.00131
|
|
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser)
|
rs138545772
|
0.00077
|
|
NM_003924.4(PHOX2B):c.*214A>G
|
rs994949118
|
0.00068
|
|
NM_003924.4(PHOX2B):c.*1486T>C
|
rs530550940
|
0.00065
|
|
NM_003924.4(PHOX2B):c.*693C>T
|
rs535962589
|
0.00051
|
|
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.*737C>T
|
rs745503233
|
0.00029
|
|
NM_003924.4(PHOX2B):c.227G>C (p.Ser76Thr)
|
rs532711949
|
0.00018
|
|
NM_003924.4(PHOX2B):c.*18G>A
|
rs776498322
|
0.00011
|
|
NM_003924.4(PHOX2B):c.*19C>A
|
rs770841700
|
0.00011
|
|
NM_003924.4(PHOX2B):c.*1310G>T
|
rs180795407
|
0.00009
|
|
NM_003924.4(PHOX2B):c.*1627G>A
|
rs886059411
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*1701A>G
|
rs886059409
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*550G>A
|
rs577950819
|
0.00006
|
|
NM_003924.4(PHOX2B):c.-105G>A
|
rs538445545
|
0.00006
|
|
NM_003924.4(PHOX2B):c.654C>A (p.Pro218=)
|
rs770437869
|
0.00006
|
|
NM_003924.4(PHOX2B):c.*638G>C
|
rs544491872
|
0.00005
|
|
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_003924.3(PHOX2B):c.-195G>A
|
rs775569375
|
0.00004
|
|
NM_003924.4(PHOX2B):c.*1582T>C
|
rs921963841
|
0.00004
|
|
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.429+9G>T
|
rs543317710
|
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.662C>T (p.Ala221Val)
|
rs777194995
|
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_003924.3(PHOX2B):c.-210C>A
|
rs886059414
|
0.00001
|
|
NM_003924.4(PHOX2B):c.*1401C>G
|
rs781647693
|
0.00001
|
|
NM_003924.4(PHOX2B):c.*1644A>T
|
rs886059410
|
0.00001
|
|
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.159C>G (p.Ala53=)
|
rs1733982727
|
0.00001
|
|
NM_003924.4(PHOX2B):c.162G>T (p.Thr54=)
|
rs1262122327
|
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.241+15C>T
|
rs201073251
|
0.00001
|
|
NM_003924.4(PHOX2B):c.241+8C>T
|
rs1470351816
|
0.00001
|
|
NM_003924.4(PHOX2B):c.242-7A>G
|
rs1194493882
|
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+13G>A
|
rs749906655
|
0.00001
|
|
NM_003924.4(PHOX2B):c.429+4C>T
|
rs1173248729
|
0.00001
|
|
NM_003924.4(PHOX2B):c.429+6C>A
|
rs1413093395
|
0.00001
|
|
NM_003924.4(PHOX2B):c.430-6G>C
|
rs980457183
|
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.682G>A (p.Gly228Arg)
|
rs1168393338
|
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.891G>C (p.Ser297=)
|
rs1246201245
|
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.92C>G (p.Ala31Gly)
|
rs1733985532
|
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
|
|
NC_000004.11:g.(?_41747824)_(41750627_?)dup
|
|
|
|
NM_003924.3(PHOX2B):c.-159C>T
|
rs887117495
|
|
|
NM_003924.3(PHOX2B):c.-265G>A
|
rs886059415
|
|
|
NM_003924.4(PHOX2B):c.*1156C>A
|
rs560413438
|
|
|
NM_003924.4(PHOX2B):c.*1269A>G
|
rs886059412
|
|
|
NM_003924.4(PHOX2B):c.*12GCG[4]
|
rs763380864
|
|
|
NM_003924.4(PHOX2B):c.*12GCG[8]
|
rs763380864
|
|
|
NM_003924.4(PHOX2B):c.*1334G>C
|
rs1733823205
|
|
|
NM_003924.4(PHOX2B):c.*1345G>T
|
rs1560464984
|
|
|
NM_003924.4(PHOX2B):c.*161G>C
|
rs114290493
|
|
|
NM_003924.4(PHOX2B):c.*18_*19delinsAA
|
|
|
|
NM_003924.4(PHOX2B):c.*194C>T
|
rs186778106
|
|
|
NM_003924.4(PHOX2B):c.*301C>G
|
rs1303150051
|
|
|
NM_003924.4(PHOX2B):c.*549dup
|
rs201654270
|
|
|
NM_003924.4(PHOX2B):c.*58G>C
|
rs886059413
|
|
|
NM_003924.4(PHOX2B):c.*680C>G
|
rs1560465172
|
|
|
NM_003924.4(PHOX2B):c.*789G>A
|
rs1733838098
|
|
|
NM_003924.4(PHOX2B):c.*838A>G
|
rs367652707
|
|
|
NM_003924.4(PHOX2B):c.100A>G (p.Ser34Gly)
|
rs1733985253
|
|
|
NM_003924.4(PHOX2B):c.100A>T (p.Ser34Cys)
|
|
|
|
NM_003924.4(PHOX2B):c.102T>C (p.Ser34=)
|
|
|
|
NM_003924.4(PHOX2B):c.106T>G (p.Cys36Gly)
|
rs1733985004
|
|
|
NM_003924.4(PHOX2B):c.107G>A (p.Cys36Tyr)
|
|
|
|
NM_003924.4(PHOX2B):c.114G>A (p.Gln38=)
|
rs766500239
|
|
|
NM_003924.4(PHOX2B):c.117C>T (p.Ala39=)
|
rs1313510563
|
|
|
NM_003924.4(PHOX2B):c.11T>G (p.Met4Arg)
|
rs1553898240
|
|
|
NM_003924.4(PHOX2B):c.120T>C (p.Ser40=)
|
rs756519209
|
|
|
NM_003924.4(PHOX2B):c.121G>A (p.Gly41Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.125T>G (p.Phe42Cys)
|
rs1733984320
|
|
|
NM_003924.4(PHOX2B):c.129G>C (p.Gln43His)
|
rs1733984074
|
|
|
NM_003924.4(PHOX2B):c.131A>G (p.Tyr44Cys)
|
|
|
|
NM_003924.4(PHOX2B):c.132T>C (p.Tyr44=)
|
|
|
|
NM_003924.4(PHOX2B):c.134A>G (p.Asn45Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.136C>T (p.Pro46Ser)
|
rs1553898221
|
|
|
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.139A>G (p.Ile47Val)
|
|
|
|
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.143G>A (p.Arg48Lys)
|
rs1733983472
|
|
|
NM_003924.4(PHOX2B):c.143G>C (p.Arg48Thr)
|
|
|
|
NM_003924.4(PHOX2B):c.145A>G (p.Thr49Ala)
|
rs2153113059
|
|
|
NM_003924.4(PHOX2B):c.145A>T (p.Thr49Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.147C>A (p.Thr49=)
|
rs2153113058
|
|
|
NM_003924.4(PHOX2B):c.147C>T (p.Thr49=)
|
|
|
|
NM_003924.4(PHOX2B):c.153T>C (p.Phe51=)
|
rs1012348354
|
|
|
NM_003924.4(PHOX2B):c.153T>G (p.Phe51Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.155G>A (p.Gly52Glu)
|
|
|
|
NM_003924.4(PHOX2B):c.156G>T (p.Gly52=)
|
rs1577561242
|
|
|
NM_003924.4(PHOX2B):c.157G>T (p.Ala53Ser)
|
rs1733982922
|
|
|
NM_003924.4(PHOX2B):c.158C>A (p.Ala53Asp)
|
rs1488529123
|
|
|
NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)
|
rs1488529123
|
|
|
NM_003924.4(PHOX2B):c.161C>T (p.Thr54Met)
|
|
|
|
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.163T>C (p.Ser55Pro)
|
rs1733982336
|
|
|
NM_003924.4(PHOX2B):c.163T>G (p.Ser55Ala)
|
|
|
|
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.170G>A (p.Cys57Tyr)
|
rs1553898212
|
|
|
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.178C>T (p.Leu60Phe)
|
rs2153113052
|
|
|
NM_003924.4(PHOX2B):c.17A>G (p.Tyr6Cys)
|
rs2153113082
|
|
|
NM_003924.4(PHOX2B):c.181A>G (p.Thr61Ala)
|
rs1273459140
|
|
|
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>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.189A>C (p.Gly63=)
|
|
|
|
NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)
|
rs1733981070
|
|
|
NM_003924.4(PHOX2B):c.194G>A (p.Cys65Tyr)
|
rs2153113045
|
|
|
NM_003924.4(PHOX2B):c.194G>T (p.Cys65Phe)
|
|
|
|
NM_003924.4(PHOX2B):c.195C>A (p.Cys65Ter)
|
|
|
|
NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)
|
|
|
|
NM_003924.4(PHOX2B):c.204C>A (p.Gly68=)
|
rs1235634555
|
|
|
NM_003924.4(PHOX2B):c.206C>A (p.Thr69Asn)
|
rs1339095355
|
|
|
NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)
|
rs1242397056
|
|
|
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.220C>T (p.Gln74Ter)
|
rs1297909281
|
|
|
NM_003924.4(PHOX2B):c.222G>A (p.Gln74=)
|
|
|
|
NM_003924.4(PHOX2B):c.222G>T (p.Gln74His)
|
rs1577561176
|
|
|
NM_003924.4(PHOX2B):c.228T>C (p.Ser76=)
|
|
|
|
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>G (p.Tyr78Ter)
|
rs73810366
|
|
|
NM_003924.4(PHOX2B):c.234_240del (p.Pro77_Tyr78insTer)
|
rs2153113037
|
|
|
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)
|
rs1733979302
|
|
|
NM_003924.4(PHOX2B):c.235G>T (p.Ala79Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.238G>C (p.Ala80Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.238G>T (p.Ala80Ser)
|
rs550472167
|
|
|
NM_003924.4(PHOX2B):c.241+10T>A
|
|
|
|
NM_003924.4(PHOX2B):c.241+11_241+12del
|
|
|
|
NM_003924.4(PHOX2B):c.241+12C>T
|
|
|
|
NM_003924.4(PHOX2B):c.241+13A>C
|
|
|
|
NM_003924.4(PHOX2B):c.241+19del
|
|
|
|
NM_003924.4(PHOX2B):c.241+1G>A
|
rs2153113036
|
|
|
NM_003924.4(PHOX2B):c.241+4A>G
|
|
|
|
NM_003924.4(PHOX2B):c.241+5G>A
|
rs1733979107
|
|
|
NM_003924.4(PHOX2B):c.241+6G>C
|
rs776614949
|
|
|
NM_003924.4(PHOX2B):c.241+6G>T
|
rs776614949
|
|
|
NM_003924.4(PHOX2B):c.241+9C>T
|
rs1553898201
|
|
|
NM_003924.4(PHOX2B):c.242-12G>A
|
|
|
|
NM_003924.4(PHOX2B):c.242-13T>C
|
rs1354309701
|
|
|
NM_003924.4(PHOX2B):c.242-14C>T
|
|
|
|
NM_003924.4(PHOX2B):c.242-16del
|
|
|
|
NM_003924.4(PHOX2B):c.242-17C>T
|
rs2153112958
|
|
|
NM_003924.4(PHOX2B):c.242-18T>C
|
|
|
|
NM_003924.4(PHOX2B):c.242-1G>A
|
|
|
|
NM_003924.4(PHOX2B):c.242-20T>A
|
|
|
|
NM_003924.4(PHOX2B):c.242-20T>C
|
rs1733950815
|
|
|
NM_003924.4(PHOX2B):c.242-4C>G
|
rs1733950165
|
|
|
NM_003924.4(PHOX2B):c.242-5_242-2dup
|
rs1553898065
|
|
|
NM_003924.4(PHOX2B):c.242-8T>C
|
rs2153112952
|
|
|
NM_003924.4(PHOX2B):c.242-9A>G
|
rs1283706591
|
|
|
NM_003924.4(PHOX2B):c.245C>G (p.Pro82Arg)
|
rs1733949825
|
|
|
NM_003924.4(PHOX2B):c.246T>G (p.Pro82=)
|
rs968699857
|
|
|
NM_003924.4(PHOX2B):c.247T>C (p.Tyr83His)
|
rs2153112951
|
|
|
NM_003924.4(PHOX2B):c.249C>A (p.Tyr83Ter)
|
|
|
|
NM_003924.4(PHOX2B):c.249C>T (p.Tyr83=)
|
rs753545181
|
|
|
NM_003924.4(PHOX2B):c.250A>C (p.Lys84Gln)
|
rs2153112950
|
|
|
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.256T>A (p.Phe86Ile)
|
rs1733949305
|
|
|
NM_003924.4(PHOX2B):c.261G>C (p.Thr87=)
|
rs996060917
|
|
|
NM_003924.4(PHOX2B):c.262G>A (p.Asp88Asn)
|
|
|
|
NM_003924.4(PHOX2B):c.262G>C (p.Asp88His)
|
rs1402111533
|
|
|
NM_003924.4(PHOX2B):c.264C>G (p.Asp88Glu)
|
rs1560466325
|
|
|
NM_003924.4(PHOX2B):c.265C>T (p.His89Tyr)
|
rs755664325
|
|
|
NM_003924.4(PHOX2B):c.266A>T (p.His89Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.267C>T (p.His89=)
|
|
|
|
NM_003924.4(PHOX2B):c.268G>A (p.Gly90Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.268G>T (p.Gly90Cys)
|
|
|
|
NM_003924.4(PHOX2B):c.26T>A (p.Leu9His)
|
rs2153113080
|
|
|
NM_003924.4(PHOX2B):c.270C>A (p.Gly90=)
|
|
|
|
NM_003924.4(PHOX2B):c.270C>G (p.Gly90=)
|
rs1420633452
|
|
|
NM_003924.4(PHOX2B):c.279C>T (p.Asn93=)
|
|
|
|
NM_003924.4(PHOX2B):c.280G>A (p.Glu94Lys)
|
|
|
|
NM_003924.4(PHOX2B):c.286C>A (p.Arg96Ser)
|
rs1450088667
|
|
|
NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly)
|
rs1450088667
|
|
|
NM_003924.4(PHOX2B):c.288C>A (p.Arg96=)
|
|
|
|
NM_003924.4(PHOX2B):c.290A>C (p.Lys97Thr)
|
rs1060501123
|
|
|
NM_003924.4(PHOX2B):c.292C>T (p.Gln98Ter)
|
rs1733947320
|
|
|
NM_003924.4(PHOX2B):c.295C>A (p.Arg99=)
|
rs1577560349
|
|
|
NM_003924.4(PHOX2B):c.299G>T (p.Arg100Leu)
|
rs104893855
|
|
|
NM_003924.4(PHOX2B):c.302T>C (p.Ile101Thr)
|
rs1560466295
|
|
|
NM_003924.4(PHOX2B):c.303C>A (p.Ile101=)
|
|
|
|
NM_003924.4(PHOX2B):c.303C>T (p.Ile101=)
|
rs1733946736
|
|
|
NM_003924.4(PHOX2B):c.306C>T (p.Arg102=)
|
rs140002346
|
|
|
NM_003924.4(PHOX2B):c.311C>A (p.Thr104Asn)
|
|
|
|
NM_003924.4(PHOX2B):c.319A>G (p.Ser107Gly)
|
rs762806075
|
|
|
NM_003924.4(PHOX2B):c.322G>T (p.Ala108Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.323C>T (p.Ala108Val)
|
rs956551152
|
|
|
NM_003924.4(PHOX2B):c.330C>G (p.Leu110=)
|
|
|
|
NM_003924.4(PHOX2B):c.331A>C (p.Lys111Gln)
|
|
|
|
NM_003924.4(PHOX2B):c.334G>A (p.Glu112Lys)
|
rs1432370889
|
|
|
NM_003924.4(PHOX2B):c.335A>T (p.Glu112Val)
|
rs1553898048
|
|
|
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.344_347dup (p.Phe117fs)
|
|
|
|
NM_003924.4(PHOX2B):c.346G>A (p.Val116Ile)
|
|
|
|
NM_003924.4(PHOX2B):c.348C>G (p.Val116=)
|
|
|
|
NM_003924.4(PHOX2B):c.351C>T (p.Phe117=)
|
rs1169134483
|
|
|
NM_003924.4(PHOX2B):c.352G>T (p.Ala118Ser)
|
rs1733944708
|
|
|
NM_003924.4(PHOX2B):c.353C>T (p.Ala118Val)
|
|
|
|
NM_003924.4(PHOX2B):c.354G>A (p.Ala118=)
|
|
|
|
NM_003924.4(PHOX2B):c.360T>G (p.Thr120=)
|
rs1246343669
|
|
|
NM_003924.4(PHOX2B):c.369C>T (p.Pro123=)
|
rs1733943582
|
|
|
NM_003924.4(PHOX2B):c.36T>C (p.Ser12=)
|
|
|
|
NM_003924.4(PHOX2B):c.36T>G (p.Ser12=)
|
rs1577561434
|
|
|
NM_003924.4(PHOX2B):c.373A>C (p.Ile125Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.378C>T (p.Tyr126=)
|
rs2153112935
|
|
|
NM_003924.4(PHOX2B):c.379A>T (p.Thr127Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn)
|
rs2153112934
|
|
|
NM_003924.4(PHOX2B):c.380C>T (p.Thr127Ile)
|
rs2153112934
|
|
|
NM_003924.4(PHOX2B):c.381T>C (p.Thr127=)
|
rs772579725
|
|
|
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys)
|
rs1560466246
|
|
|
NM_003924.4(PHOX2B):c.387G>A (p.Glu129=)
|
rs2153112933
|
|
|
NM_003924.4(PHOX2B):c.391C>A (p.Leu131Met)
|
rs748614674
|
|
|
NM_003924.4(PHOX2B):c.393G>A (p.Leu131=)
|
rs779269711
|
|
|
NM_003924.4(PHOX2B):c.394G>T (p.Ala132Ser)
|
rs2153112932
|
|
|
NM_003924.4(PHOX2B):c.397C>T (p.Leu133=)
|
|
|
|
NM_003924.4(PHOX2B):c.398T>A (p.Leu133Gln)
|
rs1553898022
|
|
|
NM_003924.4(PHOX2B):c.401A>G (p.Lys134Arg)
|
rs1400901317
|
|
|
NM_003924.4(PHOX2B):c.403A>G (p.Ile135Val)
|
rs1577560221
|
|
|
NM_003924.4(PHOX2B):c.404T>A (p.Ile135Asn)
|
rs2153112927
|
|
|
NM_003924.4(PHOX2B):c.405C>T (p.Ile135=)
|
rs147497096
|
|
|
NM_003924.4(PHOX2B):c.406G>A (p.Asp136Asn)
|
rs2153112925
|
|
|
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=)
|
rs1577560212
|
|
|
NM_003924.4(PHOX2B):c.409C>T (p.Leu137Phe)
|
rs1577560208
|
|
|
NM_003924.4(PHOX2B):c.417G>A (p.Glu139=)
|
|
|
|
NM_003924.4(PHOX2B):c.420G>A (p.Ala140=)
|
rs1577560187
|
|
|
NM_003924.4(PHOX2B):c.420G>T (p.Ala140=)
|
rs1577560187
|
|
|
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.426C>A (p.Val142=)
|
|
|
|
NM_003924.4(PHOX2B):c.429+10C>T
|
rs1003452907
|
|
|
NM_003924.4(PHOX2B):c.429+12T>A
|
rs2153112917
|
|
|
NM_003924.4(PHOX2B):c.429+13G>C
|
rs749906655
|
|
|
NM_003924.4(PHOX2B):c.429+14del
|
rs750372598
|
|
|
NM_003924.4(PHOX2B):c.429+18C>T
|
|
|
|
NM_003924.4(PHOX2B):c.429+19C>A
|
|
|
|
NM_003924.4(PHOX2B):c.429+19C>G
|
|
|
|
NM_003924.4(PHOX2B):c.429+19del
|
|
|
|
NM_003924.4(PHOX2B):c.429+4C>A
|
rs1173248729
|
|
|
NM_003924.4(PHOX2B):c.429+5G>T
|
rs1278623787
|
|
|
NM_003924.4(PHOX2B):c.429+5GC[2]
|
rs2153112918
|
|
|
NM_003924.4(PHOX2B):c.429+6C>T
|
|
|
|
NM_003924.4(PHOX2B):c.429+7G>T
|
rs1577560174
|
|
|
NM_003924.4(PHOX2B):c.429+8C>A
|
rs779822865
|
|
|
NM_003924.4(PHOX2B):c.429+8C>G
|
rs779822865
|
|
|
NM_003924.4(PHOX2B):c.429+8C>T
|
|
|
|
NM_003924.4(PHOX2B):c.429+9G>A
|
rs543317710
|
|
|
NM_003924.4(PHOX2B):c.429+9G>C
|
|
|
|
NM_003924.4(PHOX2B):c.42C>A (p.Tyr14Ter)
|
|
|
|
NM_003924.4(PHOX2B):c.42C>T (p.Tyr14=)
|
rs775101470
|
|
|
NM_003924.4(PHOX2B):c.430-11T>C
|
|
|
|
NM_003924.4(PHOX2B):c.430-12G>A
|
rs1289243501
|
|
|
NM_003924.4(PHOX2B):c.430-13C>T
|
|
|
|
NM_003924.4(PHOX2B):c.430-15T>G
|
rs2153112824
|
|
|
NM_003924.4(PHOX2B):c.430-18C>T
|
|
|
|
NM_003924.4(PHOX2B):c.430-19T>C
|
|
|
|
NM_003924.4(PHOX2B):c.430-20C>G
|
rs780967053
|
|
|
NM_003924.4(PHOX2B):c.430-20C>T
|
rs780967053
|
|
|
NM_003924.4(PHOX2B):c.430-2A>G
|
rs2153112822
|
|
|
NM_003924.4(PHOX2B):c.430-3C>T
|
|
|
|
NM_003924.4(PHOX2B):c.430-5G>A
|
rs751132977
|
|
|
NM_003924.4(PHOX2B):c.430-7G>C
|
|
|
|
NM_003924.4(PHOX2B):c.430-8T>C
|
rs1577559429
|
|
|
NM_003924.4(PHOX2B):c.430-8T>G
|
rs1577559429
|
|
|
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)
|
rs2153112821
|
|
|
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)
|
rs1560465785
|
|
|
NM_003924.4(PHOX2B):c.446G>A (p.Arg149His)
|
|
|
|
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)
|
rs1733899167
|
|
|
NM_003924.4(PHOX2B):c.450C>T (p.Arg150=)
|
rs17881486
|
|
|
NM_003924.4(PHOX2B):c.452C>T (p.Ala151Val)
|
|
|
|
NM_003924.4(PHOX2B):c.455A>G (p.Lys152Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.45G>A (p.Glu15=)
|
rs769573717
|
|
|
NM_003924.4(PHOX2B):c.462C>T (p.Arg154=)
|
|
|
|
NM_003924.4(PHOX2B):c.465G>A (p.Lys155=)
|
|
|
|
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.476C>T (p.Ala159Val)
|
rs1733898242
|
|
|
NM_003924.4(PHOX2B):c.479C>G (p.Ala160Gly)
|
rs1577559372
|
|
|
NM_003924.4(PHOX2B):c.479_480dup (p.Ala161fs)
|
|
|
|
NM_003924.4(PHOX2B):c.480G>C (p.Ala160=)
|
rs752437432
|
|
|
NM_003924.4(PHOX2B):c.480G>T (p.Ala160=)
|
|
|
|
NM_003924.4(PHOX2B):c.483_494del (p.Ala164_Ala167del)
|
|
|
|
NM_003924.4(PHOX2B):c.483_494dup (p.Ala164_Ala167dup)
|
rs1351806501
|
|
|
NM_003924.4(PHOX2B):c.484_501dup (p.Ala162_Ala167dup)
|
rs2153112812
|
|
|
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>A (p.Ala163Thr)
|
rs767837376
|
|
|
NM_003924.4(PHOX2B):c.487G>T (p.Ala163Ser)
|
rs767837376
|
|
|
NM_003924.4(PHOX2B):c.489A>G (p.Ala163=)
|
|
|
|
NM_003924.4(PHOX2B):c.490GCGGCC[3] (p.Ala166_Ala167dup)
|
rs1733896798
|
|
|
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.498G>A (p.Ala166=)
|
rs769236699
|
|
|
NM_003924.4(PHOX2B):c.499G>A (p.Ala167Thr)
|
rs1338837491
|
|
|
NM_003924.4(PHOX2B):c.49T>C (p.Cys17Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.504G>A (p.Lys168=)
|
|
|
|
NM_003924.4(PHOX2B):c.507C>A (p.Asn169Lys)
|
rs2153112810
|
|
|
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>A (p.Gly170Asp)
|
|
|
|
NM_003924.4(PHOX2B):c.510C>T (p.Gly170=)
|
rs2153112808
|
|
|
NM_003924.4(PHOX2B):c.512C>G (p.Ser171Cys)
|
rs1733896388
|
|
|
NM_003924.4(PHOX2B):c.512C>T (p.Ser171Phe)
|
|
|
|
NM_003924.4(PHOX2B):c.515C>G (p.Ser172Trp)
|
rs1560465736
|
|
|
NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu)
|
rs1560465736
|
|
|
NM_003924.4(PHOX2B):c.516G>C (p.Ser172=)
|
|
|
|
NM_003924.4(PHOX2B):c.516G>T (p.Ser172=)
|
rs1292071149
|
|
|
NM_003924.4(PHOX2B):c.518G>A (p.Gly173Asp)
|
rs866814213
|
|
|
NM_003924.4(PHOX2B):c.518G>T (p.Gly173Val)
|
rs866814213
|
|
|
NM_003924.4(PHOX2B):c.520A>G (p.Lys174Glu)
|
rs1733895906
|
|
|
NM_003924.4(PHOX2B):c.522A>G (p.Lys174=)
|
|
|
|
NM_003924.4(PHOX2B):c.523A>C (p.Lys175Gln)
|
|
|
|
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.532T>A (p.Ser178Thr)
|
rs1577559313
|
|
|
NM_003924.4(PHOX2B):c.533C>T (p.Ser178Phe)
|
rs2153112806
|
|
|
NM_003924.4(PHOX2B):c.537C>A (p.Ser179=)
|
rs2153112805
|
|
|
NM_003924.4(PHOX2B):c.537C>G (p.Ser179=)
|
|
|
|
NM_003924.4(PHOX2B):c.538A>T (p.Arg180Trp)
|
|
|
|
NM_003924.4(PHOX2B):c.543C>G (p.Asp181Glu)
|
|
|
|
NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn)
|
rs1462979811
|
|
|
NM_003924.4(PHOX2B):c.545A>C (p.Asp182Ala)
|
rs2153112804
|
|
|
NM_003924.4(PHOX2B):c.545A>G (p.Asp182Gly)
|
|
|
|
NM_003924.4(PHOX2B):c.546C>A (p.Asp182Glu)
|
rs1733894646
|
|
|
NM_003924.4(PHOX2B):c.547G>A (p.Glu183Lys)
|
|
|
|
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.560C>T (p.Ala187Val)
|
rs1191400815
|
|
|
NM_003924.4(PHOX2B):c.562A>C (p.Lys188Gln)
|
|
|
|
NM_003924.4(PHOX2B):c.564G>C (p.Lys188Asn)
|
rs1733892834
|
|
|
NM_003924.4(PHOX2B):c.564G>T (p.Lys188Asn)
|
|
|
|
NM_003924.4(PHOX2B):c.567C>G (p.Ser189Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.569C>T (p.Thr190Ile)
|
rs2153112800
|
|
|
NM_003924.4(PHOX2B):c.56C>G (p.Ala19Gly)
|
rs1353983410
|
|
|
NM_003924.4(PHOX2B):c.575C>T (p.Pro192Leu)
|
rs1733892653
|
|
|
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.579C>A (p.Asp193Glu)
|
rs1733892452
|
|
|
NM_003924.4(PHOX2B):c.579C>G (p.Asp193Glu)
|
rs1733892452
|
|
|
NM_003924.4(PHOX2B):c.57T>C (p.Ala19=)
|
|
|
|
NM_003924.4(PHOX2B):c.581G>A (p.Ser194Asn)
|
|
|
|
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.592C>T (p.Pro198Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.593C>A (p.Pro198Gln)
|
|
|
|
NM_003924.4(PHOX2B):c.599C>A (p.Pro200His)
|
rs964285984
|
|
|
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.603T>A (p.Asn201Lys)
|
rs1553897857
|
|
|
NM_003924.4(PHOX2B):c.605C>G (p.Pro202Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.605C>T (p.Pro202Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.608A>C (p.Asn203Thr)
|
rs778887680
|
|
|
NM_003924.4(PHOX2B):c.608A>G (p.Asn203Ser)
|
rs778887680
|
|
|
NM_003924.4(PHOX2B):c.608A>T (p.Asn203Ile)
|
rs778887680
|
|
|
NM_003924.4(PHOX2B):c.609_610delinsA (p.Asn203fs)
|
|
|
|
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.610C>T (p.Pro204Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.611C>A (p.Pro204His)
|
|
|
|
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
|
|
|
|
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.618del (p.Ser207fs)
|
rs587776626
|
|
|
NM_003924.4(PHOX2B):c.618dup (p.Ser207fs)
|
rs587776626
|
|
|
NM_003924.4(PHOX2B):c.619A>G (p.Ser207Gly)
|
|
|
|
NM_003924.4(PHOX2B):c.61A>C (p.Met21Leu)
|
rs780786684
|
|
|
NM_003924.4(PHOX2B):c.620G>T (p.Ser207Ile)
|
|
|
|
NM_003924.4(PHOX2B):c.624C>G (p.Cys208Trp)
|
|
|
|
NM_003924.4(PHOX2B):c.624C>T (p.Cys208=)
|
rs1060504149
|
|
|
NM_003924.4(PHOX2B):c.625G>A (p.Gly209Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.628G>C (p.Ala210Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.629C>A (p.Ala210Glu)
|
rs1442934701
|
|
|
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.633T>G (p.Asn211Lys)
|
rs1060501120
|
|
|
NM_003924.4(PHOX2B):c.635G>C (p.Gly212Ala)
|
rs1733890495
|
|
|
NM_003924.4(PHOX2B):c.636_641dup (p.Gly216_Gly217dup)
|
rs1553897847
|
|
|
NM_003924.4(PHOX2B):c.638G>T (p.Gly213Val)
|
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.640G>T (p.Gly214Cys)
|
rs776131193
|
|
|
NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala)
|
rs1733890084
|
|
|
NM_003924.4(PHOX2B):c.641G>T (p.Gly214Val)
|
|
|
|
NM_003924.4(PHOX2B):c.641_642delinsAA (p.Gly214Glu)
|
rs1733890028
|
|
|
NM_003924.4(PHOX2B):c.644G>A (p.Gly215Asp)
|
rs2153112790
|
|
|
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.648C>A (p.Gly216=)
|
rs1010286039
|
|
|
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.652C>T (p.Pro218Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.654C>T (p.Pro218=)
|
rs770437869
|
|
|
NM_003924.4(PHOX2B):c.655A>G (p.Ser219Gly)
|
rs1560465666
|
|
|
NM_003924.4(PHOX2B):c.656G>A (p.Ser219Asn)
|
rs1733887381
|
|
|
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)
|
rs1194972256
|
|
|
NM_003924.4(PHOX2B):c.658C>A (p.Pro220Thr)
|
|
|
|
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>T (p.Pro220=)
|
|
|
|
NM_003924.4(PHOX2B):c.661G>C (p.Ala221Pro)
|
rs746684161
|
|
|
NM_003924.4(PHOX2B):c.666_667del (p.Ala223fs)
|
|
|
|
NM_003924.4(PHOX2B):c.667G>A (p.Ala223Thr)
|
rs747713899
|
|
|
NM_003924.4(PHOX2B):c.671C>T (p.Pro224Leu)
|
rs1733886361
|
|
|
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.673G>C (p.Gly225Arg)
|
|
|
|
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.676G>C (p.Ala226Pro)
|
rs936469212
|
|
|
NM_003924.4(PHOX2B):c.677C>G (p.Ala226Gly)
|
|
|
|
NM_003924.4(PHOX2B):c.677C>T (p.Ala226Val)
|
rs926554947
|
|
|
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.680C>A (p.Ala227Glu)
|
rs779913205
|
|
|
NM_003924.4(PHOX2B):c.681G>A (p.Ala227=)
|
rs878854617
|
|
|
NM_003924.4(PHOX2B):c.685C>A (p.Pro229Thr)
|
rs1328080249
|
|
|
NM_003924.4(PHOX2B):c.687C>A (p.Pro229=)
|
|
|
|
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_698del (p.Gly231fs)
|
rs2153112779
|
|
|
NM_003924.4(PHOX2B):c.691_698dup (p.Gly234fs)
|
rs2153112779
|
|
|
NM_003924.4(PHOX2B):c.692del (p.Gly231fs)
|
rs1310852326
|
|
|
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.695C>T (p.Pro232Leu)
|
|
|
|
NM_003924.4(PHOX2B):c.696G>T (p.Pro232=)
|
|
|
|
NM_003924.4(PHOX2B):c.698G>C (p.Gly233Ala)
|
|
|
|
NM_003924.4(PHOX2B):c.699A>G (p.Gly233=)
|
rs2153112778
|
|
|
NM_003924.4(PHOX2B):c.69C>G (p.Thr23=)
|
rs1303902128
|
|
|
NM_003924.4(PHOX2B):c.700G>A (p.Gly234Ser)
|
rs1289310797
|
|
|
NM_003924.4(PHOX2B):c.702C>A (p.Gly234=)
|
|
|
|
NM_003924.4(PHOX2B):c.702C>G (p.Gly234=)
|
rs1293065990
|
|
|
NM_003924.4(PHOX2B):c.703G>T (p.Glu235Ter)
|
rs1733883652
|
|
|
NM_003924.4(PHOX2B):c.705A>G (p.Glu235=)
|
|
|
|
NM_003924.4(PHOX2B):c.707C>T (p.Pro236Leu)
|
rs2153112776
|
|
|
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.709G>T (p.Gly237Cys)
|
|
|
|
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.710G>C (p.Gly237Ala)
|
rs1468135641
|
|
|
NM_003924.4(PHOX2B):c.711C>T (p.Gly237=)
|
rs1733883306
|
|
|
NM_003924.4(PHOX2B):c.712A>T (p.Lys238Ter)
|
|
|
|
NM_003924.4(PHOX2B):c.713A>G (p.Lys238Arg)
|
rs1733883244
|
|
|
NM_003924.4(PHOX2B):c.714G>A (p.Lys238=)
|
rs1553897810
|
|
|
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.716G>A (p.Gly239Asp)
|
rs1577559052
|
|
|
NM_003924.4(PHOX2B):c.716G>T (p.Gly239Val)
|
rs1577559052
|
|
|
NM_003924.4(PHOX2B):c.717C>A (p.Gly239=)
|
rs1362731022
|
|
|
NM_003924.4(PHOX2B):c.717C>G (p.Gly239=)
|
|
|
|
NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)
|
rs1183113572
|
|
|
NM_003924.4(PHOX2B):c.720C>T (p.Gly240=)
|
rs2153112774
|
|
|
NM_003924.4(PHOX2B):c.721G>A (p.Ala241Thr)
|
|
|
|
NM_003924.4(PHOX2B):c.721G>C (p.Ala241Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.723A>G (p.Ala241=)
|
rs1204677453
|
|
|
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>A (p.Ser25Asn)
|
|
|
|
NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr)
|
rs2153113067
|
|
|
NM_003924.4(PHOX2B):c.75C>A (p.Ser25Arg)
|
rs1733986571
|
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
|
NM_003924.4(PHOX2B):c.76C>G (p.Leu26Val)
|
rs1358966233
|
|
|
NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)
|
rs1383528417
|
|
|
NM_003924.4(PHOX2B):c.778G>C (p.Ala260Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
|
|
|
|
NM_003924.4(PHOX2B):c.779C>T (p.Ala260Val)
|
rs1060501125
|
|
|
NM_003924.4(PHOX2B):c.782G>A (p.Gly261Glu)
|
rs1733874037
|
|
|
NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp)
|
rs768420488
|
|
|
NM_003924.4(PHOX2B):c.787C>G (p.Leu263Val)
|
|
|
|
NM_003924.4(PHOX2B):c.787C>T (p.Leu263=)
|
rs749254001
|
|
|
NM_003924.4(PHOX2B):c.788T>C (p.Leu263Pro)
|
rs1733873637
|
|
|
NM_003924.4(PHOX2B):c.788T>G (p.Leu263Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.789G>A (p.Leu263=)
|
rs2153112754
|
|
|
NM_003924.4(PHOX2B):c.790G>A (p.Ala264Thr)
|
rs1320695099
|
|
|
NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser)
|
rs1320695099
|
|
|
NM_003924.4(PHOX2B):c.794C>G (p.Ala265Gly)
|
|
|
|
NM_003924.4(PHOX2B):c.794C>T (p.Ala265Val)
|
rs1733873222
|
|
|
NM_003924.4(PHOX2B):c.795G>A (p.Ala265=)
|
rs1440737466
|
|
|
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.797C>G (p.Ala266Gly)
|
|
|
|
NM_003924.4(PHOX2B):c.798T>G (p.Ala266=)
|
rs2153112753
|
|
|
NM_003924.4(PHOX2B):c.7A>C (p.Lys3Gln)
|
rs2153113086
|
|
|
NM_003924.4(PHOX2B):c.801G>A (p.Gly267=)
|
rs778114366
|
|
|
NM_003924.4(PHOX2B):c.801G>C (p.Gly267=)
|
|
|
|
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.808G>A (p.Gly270Arg)
|
rs1553897753
|
|
|
NM_003924.4(PHOX2B):c.808G>C (p.Gly270Arg)
|
rs1553897753
|
|
|
NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu)
|
rs1577558821
|
|
|
NM_003924.4(PHOX2B):c.809G>T (p.Gly270Val)
|
rs1577558821
|
|
|
NM_003924.4(PHOX2B):c.810A>T (p.Gly270=)
|
rs2153112752
|
|
|
NM_003924.4(PHOX2B):c.811C>T (p.Gln271Ter)
|
rs1733871948
|
|
|
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.815G>A (p.Gly272Asp)
|
rs1355806826
|
|
|
NM_003924.4(PHOX2B):c.815G>C (p.Gly272Ala)
|
|
|
|
NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val)
|
rs1355806826
|
|
|
NM_003924.4(PHOX2B):c.820G>A (p.Ala274Thr)
|
rs2153112751
|
|
|
NM_003924.4(PHOX2B):c.820G>C (p.Ala274Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.825C>A (p.Pro275=)
|
|
|
|
NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
|
rs752879767
|
|
|
NM_003924.4(PHOX2B):c.828C>T (p.Gly276=)
|
|
|
|
NM_003924.4(PHOX2B):c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
|
|
|
|
NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)
|
rs1469920302
|
|
|
NM_003924.4(PHOX2B):c.830C>A (p.Pro277His)
|
|
|
|
NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu)
|
rs1733871030
|
|
|
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.835C>A (p.Pro279Thr)
|
rs1733870407
|
|
|
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)
|
rs1733870310
|
|
|
NM_003924.4(PHOX2B):c.837C>T (p.Pro279=)
|
|
|
|
NM_003924.4(PHOX2B):c.838A>G (p.Ile280Val)
|
rs1560465480
|
|
|
NM_003924.4(PHOX2B):c.840C>A (p.Ile280=)
|
|
|
|
NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro)
|
rs1733869871
|
|
|
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.847A>C (p.Ile283Leu)
|
|
|
|
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>A (p.Ile283=)
|
rs1733869488
|
|
|
NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
|
rs1733869488
|
|
|
NM_003924.4(PHOX2B):c.84A>G (p.Ser28=)
|
rs2153113066
|
|
|
NM_003924.4(PHOX2B):c.850C>A (p.Pro284Thr)
|
rs2153112743
|
|
|
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.854A>C (p.Asp285Ala)
|
rs1733868910
|
|
|
NM_003924.4(PHOX2B):c.858G>A (p.Ser286=)
|
rs1475326335
|
|
|
NM_003924.4(PHOX2B):c.85G>T (p.Ala29Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.860T>C (p.Leu287Pro)
|
|
|
|
NM_003924.4(PHOX2B):c.860T>G (p.Leu287Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.862G>A (p.Gly288Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.864G>T (p.Gly288=)
|
|
|
|
NM_003924.4(PHOX2B):c.866G>A (p.Gly289Asp)
|
rs2153112739
|
|
|
NM_003924.4(PHOX2B):c.866dup (p.Pro290fs)
|
rs1733868277
|
|
|
NM_003924.4(PHOX2B):c.868C>G (p.Pro290Ala)
|
rs2153112737
|
|
|
NM_003924.4(PHOX2B):c.870C>T (p.Pro290=)
|
rs17885864
|
|
|
NM_003924.4(PHOX2B):c.872T>A (p.Phe291Tyr)
|
|
|
|
NM_003924.4(PHOX2B):c.875C>T (p.Ala292Val)
|
rs2153112734
|
|
|
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=)
|
rs1336670718
|
|
|
NM_003924.4(PHOX2B):c.87C>T (p.Ala29=)
|
|
|
|
NM_003924.4(PHOX2B):c.880G>A (p.Val294Ile)
|
|
|
|
NM_003924.4(PHOX2B):c.880G>C (p.Val294Leu)
|
rs772358257
|
|
|
NM_003924.4(PHOX2B):c.882C>T (p.Val294=)
|
|
|
|
NM_003924.4(PHOX2B):c.88T>G (p.Tyr30Asp)
|
rs1060501122
|
|
|
NM_003924.4(PHOX2B):c.890C>T (p.Ser297Leu)
|
rs2153112732
|
|
|
NM_003924.4(PHOX2B):c.891G>A (p.Ser297=)
|
|
|
|
NM_003924.4(PHOX2B):c.896A>G (p.Gln299Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.898A>T (p.Arg300Ter)
|
rs2153112730
|
|
|
NM_003924.4(PHOX2B):c.903C>T (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>A (p.Asn302Lys)
|
rs1368103166
|
|
|
NM_003924.4(PHOX2B):c.906C>G (p.Asn302Lys)
|
rs1368103166
|
|
|
NM_003924.4(PHOX2B):c.906C>T (p.Asn302=)
|
|
|
|
NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)
|
|
|
|
NM_003924.4(PHOX2B):c.911C>A (p.Ala304Asp)
|
rs2153112728
|
|
|
NM_003924.4(PHOX2B):c.918C>A (p.Ala306=)
|
rs753912150
|
|
|
NM_003924.4(PHOX2B):c.918C>T (p.Ala306=)
|
|
|
|
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.91G>A (p.Ala31Thr)
|
rs2153113064
|
|
|
NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)
|
rs1420729662
|
|
|
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>A (p.Val309Glu)
|
|
|
|
NM_003924.4(PHOX2B):c.933C>G (p.Ser311Arg)
|
|
|
|
NM_003924.4(PHOX2B):c.933C>T (p.Ser311=)
|
rs2153112725
|
|
|
NM_003924.4(PHOX2B):c.937A>G (p.Met313Val)
|
rs1560465426
|
|
|
NM_003924.4(PHOX2B):c.938T>C (p.Met313Thr)
|
|
|
|
NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
|
rs1733865401
|
|
|
NM_003924.4(PHOX2B):c.940T>G (p.Phe314Val)
|
|
|
|
NM_003924.4(PHOX2B):c.945A>C (p.Ter315Cys)
|
rs1553897738
|
|
|
NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)
|
|
|
|
NM_003924.4(PHOX2B):c.99C>T (p.Phe33=)
|
rs779251110
|
|
|
NM_003924.4(PHOX2B):c.9A>G (p.Lys3=)
|
rs1733989492
|
|