NM_003924.4(PHOX2B):c.599C>T (p.Pro200Leu)
|
rs964285984
|
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.929A>G (p.Lys310Arg)
|
rs767873201
|
0.00002
|
NM_003924.4(PHOX2B):c.137C>A (p.Pro46Gln)
|
rs1381435898
|
0.00001
|
NM_003924.4(PHOX2B):c.166G>A (p.Gly56Ser)
|
rs1194861348
|
0.00001
|
NM_003924.4(PHOX2B):c.251A>G (p.Lys84Arg)
|
rs1397909726
|
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.373A>G (p.Ile125Val)
|
rs560843362
|
0.00001
|
NM_003924.4(PHOX2B):c.429+4C>T
|
rs1173248729
|
0.00001
|
NM_003924.4(PHOX2B):c.508G>C (p.Gly170Arg)
|
rs775931264
|
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.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.661G>A (p.Ala221Thr)
|
rs746684161
|
0.00001
|
NM_003924.4(PHOX2B):c.665G>C (p.Gly222Ala)
|
rs771563787
|
0.00001
|
NM_003924.4(PHOX2B):c.670C>A (p.Pro224Thr)
|
rs1060501118
|
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.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.814G>A (p.Gly272Ser)
|
rs1232625512
|
0.00001
|
NM_003924.4(PHOX2B):c.826G>A (p.Gly276Ser)
|
rs587778607
|
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.934A>G (p.Ser312Gly)
|
rs1733865595
|
0.00001
|
NM_003924.4(PHOX2B):c.119G>C (p.Ser40Thr)
|
|
|
NM_003924.4(PHOX2B):c.121G>A (p.Gly41Ser)
|
|
|
NM_003924.4(PHOX2B):c.141A>G (p.Ile47Met)
|
rs1577561264
|
|
NM_003924.4(PHOX2B):c.151T>C (p.Phe51Leu)
|
|
|
NM_003924.4(PHOX2B):c.161C>G (p.Thr54Arg)
|
|
|
NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)
|
rs1733982125
|
|
NM_003924.4(PHOX2B):c.182C>T (p.Thr61Met)
|
|
|
NM_003924.4(PHOX2B):c.184C>A (p.Pro62Thr)
|
|
|
NM_003924.4(PHOX2B):c.184C>G (p.Pro62Ala)
|
rs1458869707
|
|
NM_003924.4(PHOX2B):c.188G>T (p.Gly63Val)
|
rs2153113046
|
|
NM_003924.4(PHOX2B):c.193T>A (p.Cys65Ser)
|
rs1733981070
|
|
NM_003924.4(PHOX2B):c.1A>G (p.Met1Val)
|
|
|
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>T (p.Gln74His)
|
rs1577561176
|
|
NM_003924.4(PHOX2B):c.224G>A (p.Ser75Asn)
|
|
|
NM_003924.4(PHOX2B):c.22T>C (p.Tyr8His)
|
|
|
NM_003924.4(PHOX2B):c.230C>G (p.Pro77Arg)
|
|
|
NM_003924.4(PHOX2B):c.235G>C (p.Ala79Pro)
|
|
|
NM_003924.4(PHOX2B):c.236C>T (p.Ala79Val)
|
|
|
NM_003924.4(PHOX2B):c.23A>G (p.Tyr8Cys)
|
|
|
NM_003924.4(PHOX2B):c.241+5G>A
|
rs1733979107
|
|
NM_003924.4(PHOX2B):c.253C>T (p.Leu85Phe)
|
rs766200980
|
|
NM_003924.4(PHOX2B):c.256T>A (p.Phe86Ile)
|
rs1733949305
|
|
NM_003924.4(PHOX2B):c.259A>C (p.Thr87Pro)
|
|
|
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.275T>A (p.Leu92His)
|
|
|
NM_003924.4(PHOX2B):c.286C>G (p.Arg96Gly)
|
rs1450088667
|
|
NM_003924.4(PHOX2B):c.293A>G (p.Gln98Arg)
|
rs1577560359
|
|
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.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.360_362del (p.His121del)
|
rs2153112938
|
|
NM_003924.4(PHOX2B):c.380C>A (p.Thr127Asn)
|
rs2153112934
|
|
NM_003924.4(PHOX2B):c.380C>G (p.Thr127Ser)
|
|
|
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.417G>C (p.Glu139Asp)
|
rs1577560190
|
|
NM_003924.4(PHOX2B):c.429+4C>A
|
rs1173248729
|
|
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.452C>T (p.Ala151Val)
|
|
|
NM_003924.4(PHOX2B):c.469G>C (p.Glu157Gln)
|
|
|
NM_003924.4(PHOX2B):c.475G>T (p.Ala159Ser)
|
rs1162776926
|
|
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.482C>T (p.Ala161Val)
|
|
|
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.491C>G (p.Ala164Gly)
|
|
|
NM_003924.4(PHOX2B):c.496G>A (p.Ala166Thr)
|
|
|
NM_003924.4(PHOX2B):c.500C>T (p.Ala167Val)
|
|
|
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>T (p.Gly170Val)
|
|
|
NM_003924.4(PHOX2B):c.50G>A (p.Cys17Tyr)
|
|
|
NM_003924.4(PHOX2B):c.511T>C (p.Ser171Pro)
|
|
|
NM_003924.4(PHOX2B):c.515C>T (p.Ser172Leu)
|
rs1560465736
|
|
NM_003924.4(PHOX2B):c.517G>A (p.Gly173Ser)
|
|
|
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.533C>T (p.Ser178Phe)
|
rs2153112806
|
|
NM_003924.4(PHOX2B):c.544G>A (p.Asp182Asn)
|
rs1462979811
|
|
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.556G>A (p.Glu186Lys)
|
rs1560465720
|
|
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.577G>C (p.Asp193His)
|
rs1577559273
|
|
NM_003924.4(PHOX2B):c.579C>G (p.Asp193Glu)
|
rs1733892452
|
|
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.597TCCCAA[3] (p.Pro204_Thr205insAsnPro)
|
|
|
NM_003924.4(PHOX2B):c.605C>G (p.Pro202Arg)
|
|
|
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.613A>C (p.Thr205Pro)
|
|
|
NM_003924.4(PHOX2B):c.614C>G (p.Thr205Ser)
|
|
|
NM_003924.4(PHOX2B):c.614_619dup (p.Pro206_Ser207insThrPro)
|
|
|
NM_003924.4(PHOX2B):c.616C>T (p.Pro206Ser)
|
rs754754489
|
|
NM_003924.4(PHOX2B):c.617C>T (p.Pro206Leu)
|
rs587778606
|
|
NM_003924.4(PHOX2B):c.626G>A (p.Gly209Glu)
|
|
|
NM_003924.4(PHOX2B):c.632A>T (p.Asn211Ile)
|
|
|
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.638G>A (p.Gly213Asp)
|
rs1328014263
|
|
NM_003924.4(PHOX2B):c.639CGG[5] (p.Gly217dup)
|
rs760638643
|
|
NM_003924.4(PHOX2B):c.641G>C (p.Gly214Ala)
|
rs1733890084
|
|
NM_003924.4(PHOX2B):c.643G>C (p.Gly215Arg)
|
|
|
NM_003924.4(PHOX2B):c.646G>A (p.Gly216Ser)
|
rs2153112789
|
|
NM_003924.4(PHOX2B):c.646G>T (p.Gly216Cys)
|
|
|
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.653C>G (p.Pro218Arg)
|
|
|
NM_003924.4(PHOX2B):c.657C>A (p.Ser219Arg)
|
rs1194972256
|
|
NM_003924.4(PHOX2B):c.659C>A (p.Pro220Gln)
|
|
|
NM_003924.4(PHOX2B):c.659C>G (p.Pro220Arg)
|
rs1733887201
|
|
NM_003924.4(PHOX2B):c.669_671del (p.Pro224del)
|
|
|
NM_003924.4(PHOX2B):c.674G>A (p.Gly225Glu)
|
|
|
NM_003924.4(PHOX2B):c.676G>A (p.Ala226Thr)
|
rs936469212
|
|
NM_003924.4(PHOX2B):c.677C>G (p.Ala226Gly)
|
|
|
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.685C>A (p.Pro229Thr)
|
rs1328080249
|
|
NM_003924.4(PHOX2B):c.685C>T (p.Pro229Ser)
|
|
|
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.691G>A (p.Gly231Ser)
|
rs1577559082
|
|
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.700G>A (p.Gly234Ser)
|
rs1289310797
|
|
NM_003924.4(PHOX2B):c.703G>C (p.Glu235Gln)
|
|
|
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.712A>C (p.Lys238Gln)
|
|
|
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.718G>T (p.Gly240Cys)
|
rs1183113572
|
|
NM_003924.4(PHOX2B):c.71C>G (p.Ser24Trp)
|
rs1577561345
|
|
NM_003924.4(PHOX2B):c.74G>C (p.Ser25Thr)
|
rs2153113067
|
|
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)
|
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NM_003924.4(PHOX2B):c.785G>A (p.Gly262Asp)
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rs768420488
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NM_003924.4(PHOX2B):c.790G>T (p.Ala264Ser)
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rs1320695099
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NM_003924.4(PHOX2B):c.791C>A (p.Ala264Asp)
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NM_003924.4(PHOX2B):c.796G>A (p.Ala266Thr)
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NM_003924.4(PHOX2B):c.800G>C (p.Gly267Ala)
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NM_003924.4(PHOX2B):c.802G>A (p.Gly268Ser)
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rs758728895
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NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)
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rs765369462
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NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)
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rs765369462
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NM_003924.4(PHOX2B):c.805C>T (p.Pro269Ser)
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NM_003924.4(PHOX2B):c.806C>G (p.Pro269Arg)
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NM_003924.4(PHOX2B):c.809G>A (p.Gly270Glu)
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rs1577558821
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NM_003924.4(PHOX2B):c.812A>C (p.Gln271Pro)
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rs1334079108
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NM_003924.4(PHOX2B):c.812A>G (p.Gln271Arg)
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NM_003924.4(PHOX2B):c.815G>T (p.Gly272Val)
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rs1355806826
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NM_003924.4(PHOX2B):c.821C>T (p.Ala274Val)
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NM_003924.4(PHOX2B):c.823C>G (p.Pro275Ala)
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NM_003924.4(PHOX2B):c.824C>T (p.Pro275Leu)
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NM_003924.4(PHOX2B):c.826GGCCCC[3] (p.276GP[3])
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rs752879767
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NM_003924.4(PHOX2B):c.829C>A (p.Pro277Thr)
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rs1469920302
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NM_003924.4(PHOX2B):c.830C>T (p.Pro277Leu)
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rs1733871030
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NM_003924.4(PHOX2B):c.833G>T (p.Gly278Val)
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rs1577558795
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NM_003924.4(PHOX2B):c.841A>C (p.Thr281Pro)
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rs1733869871
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NM_003924.4(PHOX2B):c.842C>A (p.Thr281Asn)
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rs1577558782
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NM_003924.4(PHOX2B):c.842C>T (p.Thr281Ile)
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NM_003924.4(PHOX2B):c.845C>G (p.Ser282Cys)
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rs1577558774
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NM_003924.4(PHOX2B):c.848T>A (p.Ile283Asn)
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rs2153112744
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NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)
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rs1733869488
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NM_003924.4(PHOX2B):c.850C>G (p.Pro284Ala)
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rs2153112743
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NM_003924.4(PHOX2B):c.851C>G (p.Pro284Arg)
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rs1462459716
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NM_003924.4(PHOX2B):c.859C>T (p.Leu287Phe)
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NM_003924.4(PHOX2B):c.860T>G (p.Leu287Arg)
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NM_003924.4(PHOX2B):c.866G>T (p.Gly289Val)
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NM_003924.4(PHOX2B):c.877A>G (p.Ser293Gly)
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NM_003924.4(PHOX2B):c.879C>A (p.Ser293Arg)
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rs1577558732
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NM_003924.4(PHOX2B):c.884T>C (p.Leu295Pro)
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NM_003924.4(PHOX2B):c.904A>T (p.Asn302Tyr)
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rs1577558708
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NM_003924.4(PHOX2B):c.905A>C (p.Asn302Thr)
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rs779068107
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NM_003924.4(PHOX2B):c.907G>A (p.Gly303Ser)
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NM_003924.4(PHOX2B):c.914A>C (p.Lys305Thr)
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NM_003924.4(PHOX2B):c.919G>A (p.Ala307Thr)
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rs780578509
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NM_003924.4(PHOX2B):c.919G>T (p.Ala307Ser)
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rs780578509
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NM_003924.4(PHOX2B):c.920C>T (p.Ala307Val)
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rs1420729662
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NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)
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rs756644504
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NM_003924.4(PHOX2B):c.926T>C (p.Val309Ala)
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NM_003924.4(PHOX2B):c.938T>A (p.Met313Lys)
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NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)
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rs1733865401
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NM_003924.4(PHOX2B):c.96C>A (p.Asp32Glu)
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NM_003924.4(PHOX2B):c.97T>A (p.Phe33Ile)
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