NC_000004.12:g.41748769G>A


NM_003924.3(PHOX2B):c.*1126C>G

rs118046131 
NM_003924.3(PHOX2B):c.*1156C>A

rs560413438 
NM_003924.3(PHOX2B):c.*1269A>G

rs886059412 
NM_003924.3(PHOX2B):c.*1310G>T

rs180795407 
NM_003924.3(PHOX2B):c.*1347A>G

rs62412180 
NM_003924.3(PHOX2B):c.*1364G>A

rs6826373 
NM_003924.3(PHOX2B):c.*1381C>T

rs59260453 
NM_003924.3(PHOX2B):c.*1387C>T

rs11723860 
NM_003924.3(PHOX2B):c.*1401C>G

rs781647693 
NM_003924.3(PHOX2B):c.*1486T>C

rs530550940 
NM_003924.3(PHOX2B):c.*161G>A

rs114290493 
NM_003924.3(PHOX2B):c.*1627G>A

rs886059411 
NM_003924.3(PHOX2B):c.*1644A>T

rs886059410 
NM_003924.3(PHOX2B):c.*1662A>T

rs1063611 
NM_003924.3(PHOX2B):c.*1701A>G

rs886059409 
NM_003924.3(PHOX2B):c.*18G>A

rs776498322 
NM_003924.3(PHOX2B):c.*194C>T

rs186778106 
NM_003924.3(PHOX2B):c.*19C>A

rs770841700 
NM_003924.3(PHOX2B):c.*24_*32delGCGGCGGCG

rs763380864 
NM_003924.3(PHOX2B):c.*30_*32dupGCG

rs763380864 
NM_003924.3(PHOX2B):c.*549dup

rs201654270 
NM_003924.3(PHOX2B):c.*550G>A

rs577950819 
NM_003924.3(PHOX2B):c.*58G>C

rs886059413 
NM_003924.3(PHOX2B):c.*600T>G

rs73139116 
NM_003924.3(PHOX2B):c.*60G>A

rs558416040 
NM_003924.3(PHOX2B):c.*638G>C

rs544491872 
NM_003924.3(PHOX2B):c.*674dup

rs397840867 
NM_003924.3(PHOX2B):c.*693C>T

rs535962589 
NM_003924.3(PHOX2B):c.*737C>T

rs745503233 
NM_003924.3(PHOX2B):c.*80G>A

rs75913938 
NM_003924.3(PHOX2B):c.195G>A

rs775569375 
NM_003924.3(PHOX2B):c.210C>A

rs886059414 
NM_003924.3(PHOX2B):c.265G>A

rs886059415 
NM_003924.3(PHOX2B):c.11T>G (p.Met4Arg)

rs1553898240 
NM_003924.3(PHOX2B):c.120T>C (p.Ser40=)

rs756519209 
NM_003924.3(PHOX2B):c.135C>T (p.Asn45=)

rs878854616 
NM_003924.3(PHOX2B):c.136C>T (p.Pro46Ser)

rs1553898221 
NM_003924.3(PHOX2B):c.138G>A (p.Pro46=)

rs1486629336 
NM_003924.3(PHOX2B):c.146C>A (p.Thr49Asn)

rs559227588 
NM_003924.3(PHOX2B):c.165C>T (p.Ser55=)

rs762144117 
NM_003924.3(PHOX2B):c.170G>A (p.Cys57Tyr)

rs1553898212 
NM_003924.3(PHOX2B):c.181A>G (p.Thr61Ala)

rs1273459140 
NM_003924.3(PHOX2B):c.186G>A (p.Pro62=)

rs763699416 
NM_003924.3(PHOX2B):c.186G>T (p.Pro62=)

rs763699416 
NM_003924.3(PHOX2B):c.220C>T (p.Gln74Ter)

rs1297909281 
NM_003924.3(PHOX2B):c.227G>C (p.Ser76Thr)

rs532711949 
NM_003924.3(PHOX2B):c.238G>T (p.Ala80Ser)

rs550472167 
NM_003924.3(PHOX2B):c.241+6G>T

rs776614949 
NM_003924.3(PHOX2B):c.241+9C>T

rs1553898201 
NM_003924.3(PHOX2B):c.2425_2422dup

rs1553898065 
NM_003924.3(PHOX2B):c.2429A>G

rs1283706591 
NM_003924.3(PHOX2B):c.264C>G (p.Asp88Glu)

rs1560466325 
NM_003924.3(PHOX2B):c.288C>G (p.Arg96=)

rs201892150 
NM_003924.3(PHOX2B):c.290A>C (p.Lys97Thr)

rs1060501123 
NM_003924.3(PHOX2B):c.299G>T (p.Arg100Leu)

rs104893855 
NM_003924.3(PHOX2B):c.302T>C (p.Ile101Thr)

rs1560466295 
NM_003924.3(PHOX2B):c.306C>G (p.Arg102=)

rs140002346 
NM_003924.3(PHOX2B):c.306C>T (p.Arg102=)

rs140002346 
NM_003924.3(PHOX2B):c.309C>G (p.Thr103=)

rs199611260 
NM_003924.3(PHOX2B):c.323C>T (p.Ala108Val)

rs956551152 
NM_003924.3(PHOX2B):c.335A>T (p.Glu112Val)

rs1553898048 
NM_003924.3(PHOX2B):c.33C>T (p.Ser11=)

rs773982008 
NM_003924.3(PHOX2B):c.373A>G (p.Ile125Val)

rs560843362 
NM_003924.3(PHOX2B):c.385G>A (p.Glu129Lys)

rs1560466246 
NM_003924.3(PHOX2B):c.391C>G (p.Leu131Val)

rs748614674 
NM_003924.3(PHOX2B):c.393G>C (p.Leu131=)

rs779269711 
NM_003924.3(PHOX2B):c.39C>T (p.Ala13=)

rs748767112 
NM_003924.3(PHOX2B):c.403A>G (p.Ile135Val)

rs1577560221 
NM_003924.3(PHOX2B):c.409C>T (p.Leu137Phe)

rs1577560208 
NM_003924.3(PHOX2B):c.429+8C>A

rs779822865 
NM_003924.3(PHOX2B):c.429+9G>T

rs543317710 
NM_003924.3(PHOX2B):c.480G>C (p.Ala160=)

rs752437432 
NM_003924.3(PHOX2B):c.486C>A (p.Ala162=)

rs547677836 
NM_003924.3(PHOX2B):c.486C>T (p.Ala162=)

rs547677836 
NM_003924.3(PHOX2B):c.487G>A (p.Ala163Thr)

rs767837376 
NM_003924.3(PHOX2B):c.487G>T (p.Ala163Ser)

rs767837376 
NM_003924.3(PHOX2B):c.495C>T (p.Ala165=)

rs1333598816 
NM_003924.3(PHOX2B):c.497C>T (p.Ala166Val)

rs774521395 
NM_003924.3(PHOX2B):c.515C>T (p.Ser172Leu)

rs1560465736 
NM_003924.3(PHOX2B):c.524A>T (p.Lys175Met)

rs1060501119 
NM_003924.3(PHOX2B):c.532T>A (p.Ser178Thr)

rs1577559313 
NM_003924.3(PHOX2B):c.56C>G (p.Ala19Gly)

rs1353983410 
NM_003924.3(PHOX2B):c.591C>G (p.Gly197=)

rs144414806 
NM_003924.3(PHOX2B):c.603T>A (p.Asn201Lys)

rs1553897857 
NM_003924.3(PHOX2B):c.608A>C (p.Asn203Thr)

rs778887680 
NM_003924.3(PHOX2B):c.618dup (p.Ser207fs)

rs587776626 
NM_003924.3(PHOX2B):c.61A>C (p.Met21Leu)

rs780786684 
NM_003924.3(PHOX2B):c.624C>T (p.Cys208=)

rs1060504149 
NM_003924.3(PHOX2B):c.630G>T (p.Ala210=)

rs370087972 
NM_003924.3(PHOX2B):c.633T>G (p.Asn211Lys)

rs1060501120 
NM_003924.3(PHOX2B):c.636_641dup (p.Gly216_Gly217dup)

rs1553897847 
NM_003924.3(PHOX2B):c.639C>G (p.Gly213=)

rs17879258 
NM_003924.3(PHOX2B):c.639C>T (p.Gly213=)

rs17879258 
NM_003924.3(PHOX2B):c.640G>T (p.Gly214Cys)

rs776131193 
NM_003924.3(PHOX2B):c.642C>T (p.Gly214=)

rs190973308 
NM_003924.3(PHOX2B):c.648_650dupCGG

rs760638643 
NM_003924.3(PHOX2B):c.654C>A (p.Pro218=)

rs770437869 
NM_003924.3(PHOX2B):c.655A>G (p.Ser219Gly)

rs1560465666 
NM_003924.3(PHOX2B):c.661G>A (p.Ala221Thr)

rs746684161 
NM_003924.3(PHOX2B):c.665G>C (p.Gly222Ala)

rs771563787 
NM_003924.3(PHOX2B):c.676G>C (p.Ala226Pro)

rs936469212 
NM_003924.3(PHOX2B):c.679_680delinsTT (p.Ala227Leu)

rs1577559108 
NM_003924.3(PHOX2B):c.680C>G (p.Ala227Gly)

rs779913205 
NM_003924.3(PHOX2B):c.683G>T (p.Gly228Val)

rs1335294030 
NM_003924.3(PHOX2B):c.687C>G (p.Pro229=)

rs1391920139 
NM_003924.3(PHOX2B):c.694C>A (p.Pro232Thr)

rs1433654836 
NM_003924.3(PHOX2B):c.70T>C (p.Ser24Pro)

rs200971068 
NM_003924.3(PHOX2B):c.714G>A (p.Lys238=)

rs1553897810 
NM_003924.3(PHOX2B):c.714G>T (p.Lys238Asn)

rs1553897810 
NM_003924.3(PHOX2B):c.716G>A (p.Gly239Asp)

rs1577559052 
NM_003924.3(PHOX2B):c.718G>A (p.Gly240Ser)

rs1183113572 
NM_003924.3(PHOX2B):c.719G>A (p.Gly240Asp)

rs917558720 
NM_003924.3(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)

rs761018157 
NM_003924.3(PHOX2B):c.779C>T (p.Ala260Val)

rs1060501125 
NM_003924.3(PHOX2B):c.785G>T (p.Gly262Val)

rs768420488 
NM_003924.3(PHOX2B):c.793G>A (p.Ala265Thr)

rs1010753155 
NM_003924.3(PHOX2B):c.796G>T (p.Ala266Ser)

rs1260084723 
NM_003924.3(PHOX2B):c.797C>T (p.Ala266Val)

rs745709595 
NM_003924.3(PHOX2B):c.806C>T (p.Pro269Leu)

rs1350901284 
NM_003924.3(PHOX2B):c.807T>C (p.Pro269=)

rs755371263 
NM_003924.3(PHOX2B):c.808G>A (p.Gly270Arg)

rs1553897753 
NM_003924.3(PHOX2B):c.809G>T (p.Gly270Val)

rs1577558821 
NM_003924.3(PHOX2B):c.814G>A (p.Gly272Ser)

rs1232625512 
NM_003924.3(PHOX2B):c.815G>T (p.Gly272Val)

rs1355806826 
NM_003924.3(PHOX2B):c.826G>A (p.Gly276Ser)

rs587778607 
NM_003924.3(PHOX2B):c.826_831GGCCCC[3] (p.276_277GP[3])

rs752879767 
NM_003924.3(PHOX2B):c.832G>A (p.Gly278Ser)

rs138545772 
NM_003924.3(PHOX2B):c.833G>T (p.Gly278Val)

rs1577558795 
NM_003924.3(PHOX2B):c.885A>G (p.Leu295=)

rs748382088 
NM_003924.3(PHOX2B):c.88T>G (p.Tyr30Asp)

rs1060501122 
NM_003924.3(PHOX2B):c.904A>T (p.Asn302Tyr)

rs1577558708 
NM_003924.3(PHOX2B):c.905A>G (p.Asn302Ser)

rs779068107 
NM_003924.3(PHOX2B):c.920C>T (p.Ala307Val)

rs1420729662 
NM_003924.3(PHOX2B):c.925G>C (p.Val309Leu)

rs756644504 
NM_003924.3(PHOX2B):c.929A>G (p.Lys310Arg)

rs767873201 
NM_003924.3(PHOX2B):c.932G>A (p.Ser311Asn)

rs762234006 
NM_003924.3(PHOX2B):c.942C>T (p.Phe314=)

rs751212535 
NM_003924.4(PHOX2B):c.*1334G>C


NM_003924.4(PHOX2B):c.*1345G>T


NM_003924.4(PHOX2B):c.*1582T>C


NM_003924.4(PHOX2B):c.*161G>C


NM_003924.4(PHOX2B):c.*214A>G


NM_003924.4(PHOX2B):c.*278T>A


NM_003924.4(PHOX2B):c.*301C>G


NM_003924.4(PHOX2B):c.*680C>G


NM_003924.4(PHOX2B):c.*789G>A


NM_003924.4(PHOX2B):c.*838A>G


NM_003924.4(PHOX2B):c.105G>A


NM_003924.4(PHOX2B):c.158C>T (p.Ala53Val)


NM_003924.4(PHOX2B):c.167G>T (p.Gly56Val)


NM_003924.4(PHOX2B):c.208C>T (p.Leu70Phe)


NM_003924.4(PHOX2B):c.231G>A (p.Pro77=)

rs376060053 
NM_003924.4(PHOX2B):c.231G>T (p.Pro77=)

rs376060053 
NM_003924.4(PHOX2B):c.234C>G (p.Tyr78Ter)


NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=)

rs73810366 
NM_003924.4(PHOX2B):c.235G>A (p.Ala79Thr)


NM_003924.4(PHOX2B):c.315C>T (p.Phe105=)

rs763804374 
NM_003924.4(PHOX2B):c.319A>G (p.Ser107Gly)


NM_003924.4(PHOX2B):c.334G>A (p.Glu112Lys)


NM_003924.4(PHOX2B):c.344G>A (p.Arg115Lys)


NM_003924.4(PHOX2B):c.345G>A (p.Arg115=)

rs747055965 
NM_003924.4(PHOX2B):c.408C>T (p.Asp136=)

rs1577560212 
NM_003924.4(PHOX2B):c.422G>A (p.Arg141Gln)


NM_003924.4(PHOX2B):c.429+5G>T


NM_003924.4(PHOX2B):c.429+7G>T

rs1577560174 
NM_003924.4(PHOX2B):c.446G>T (p.Arg149Leu)


NM_003924.4(PHOX2B):c.450C>G (p.Arg150=)

rs17881486 
NM_003924.4(PHOX2B):c.48C>T (p.Ser16=)

rs1383504578 
NM_003924.4(PHOX2B):c.497C>A (p.Ala166Glu)


NM_003924.4(PHOX2B):c.515C>G (p.Ser172Trp)


NM_003924.4(PHOX2B):c.531C>T (p.Asp177=)

rs746303997 
NM_003924.4(PHOX2B):c.543C>T (p.Asp181=)

rs780690330 
NM_003924.4(PHOX2B):c.550A>G (p.Ser184Gly)


NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)

rs17885216 
NM_003924.4(PHOX2B):c.618del (p.Ser207fs)

rs587776626 
NM_003924.4(PHOX2B):c.671C>T (p.Pro224Leu)


NM_003924.4(PHOX2B):c.679G>A (p.Ala227Thr)


NM_003924.4(PHOX2B):c.709G>C (p.Gly237Arg)

rs1256766962 
NM_003924.4(PHOX2B):c.713A>G (p.Lys238Arg)


NM_003924.4(PHOX2B):c.718G>T (p.Gly240Cys)


NM_003924.4(PHOX2B):c.778G>A (p.Ala260Thr)


NM_003924.4(PHOX2B):c.782G>A (p.Gly261Glu)


NM_003924.4(PHOX2B):c.791C>G (p.Ala264Gly)

rs779924196 
NM_003924.4(PHOX2B):c.803G>A (p.Gly268Asp)


NM_003924.4(PHOX2B):c.803G>T (p.Gly268Val)


NM_003924.4(PHOX2B):c.808G>C (p.Gly270Arg)


NM_003924.4(PHOX2B):c.811C>T (p.Gln271Ter)


NM_003924.4(PHOX2B):c.831C>G (p.Pro277=)

rs773606043 
NM_003924.4(PHOX2B):c.836C>T (p.Pro279Leu)


NM_003924.4(PHOX2B):c.838A>G (p.Ile280Val)


NM_003924.4(PHOX2B):c.849C>G (p.Ile283Met)


NM_003924.4(PHOX2B):c.870C>A (p.Pro290=)

rs17885864 
NM_003924.4(PHOX2B):c.87C>A (p.Ala29=)

rs1336670718 
NM_003924.4(PHOX2B):c.921C>G (p.Ala307=)

rs1045005323 
NM_003924.4(PHOX2B):c.925G>A (p.Val309Met)


NM_003924.4(PHOX2B):c.940T>C (p.Phe314Leu)


NP_003915.2:p.Ala260(5_9)


PHOX2B, 37BP DEL, NT722

