ClinVar Miner

List of variants in gene PHOX2B studied for Haddad syndrome

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Gene type:
ClinVar version:
Total variants: 637
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HGVS dbSNP gnomAD frequency
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.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_003924.4(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.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_003924.4(PHOX2B):c.*18_*19delinsAA
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.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.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.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>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.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.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.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.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>G (p.Ser12=) rs1577561434
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.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.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+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.446G>A (p.Arg149His)
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.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.581G>A (p.Ser194Asn)
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.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.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.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.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.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_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.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.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.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>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.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>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.97T>A (p.Phe33Ile)
NM_003924.4(PHOX2B):c.99C>T (p.Phe33=) rs779251110
NM_003924.4(PHOX2B):c.9A>G (p.Lys3=) rs1733989492

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