NC_000004.12:g.41748769G>A


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

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

rs180795407 
NM_003924.3(PHOX2B):c.*1401C>G

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

rs530550940 
NM_003924.3(PHOX2B):c.*1627G>A

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

rs886059410 
NM_003924.3(PHOX2B):c.*1701A>G

rs886059409 
NM_003924.3(PHOX2B):c.*30_*32dupGCG

rs763380864 
NM_003924.3(PHOX2B):c.*58G>C

rs886059413 
NM_003924.3(PHOX2B):c.*638G>C

rs544491872 
NM_003924.3(PHOX2B):c.*693C>T

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

rs745503233 
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.136C>T (p.Pro46Ser)

rs1553898221 
NM_003924.3(PHOX2B):c.146C>A (p.Thr49Asn)

rs559227588 
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.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.2425_2422dup

rs1553898065 
NM_003924.3(PHOX2B):c.264C>G (p.Asp88Glu)

rs1560466325 
NM_003924.3(PHOX2B):c.270C>T (p.Gly90=)

rs1420633452 
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.323C>T (p.Ala108Val)

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

rs1553898048 
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.398T>A (p.Leu133Gln)

rs1553898022 
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+4C>T

rs1173248729 
NM_003924.3(PHOX2B):c.479C>G (p.Ala160Gly)

rs1577559372 
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.497C>T (p.Ala166Val)

rs774521395 
NM_003924.3(PHOX2B):c.508G>C (p.Gly170Arg)

rs775931264 
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.560C>A (p.Ala187Asp)

rs1191400815 
NM_003924.3(PHOX2B):c.56C>G (p.Ala19Gly)

rs1353983410 
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.610C>G (p.Pro204Ala)

rs1292727082 
NM_003924.3(PHOX2B):c.61A>C (p.Met21Leu)

rs780786684 
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>T (p.Gly213=)

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

rs776131193 
NM_003924.3(PHOX2B):c.648_650dupCGG

rs760638643 
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.667G>T (p.Ala223Ser)

rs747713899 
NM_003924.3(PHOX2B):c.670C>A (p.Pro224Thr)

rs1060501118 
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.692G>A (p.Gly231Asp)

rs1044995380 
NM_003924.3(PHOX2B):c.694C>A (p.Pro232Thr)

rs1433654836 
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.779C>T (p.Ala260Val)

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

rs768420488 
NM_003924.3(PHOX2B):c.790G>T (p.Ala264Ser)

rs1320695099 
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.808G>A (p.Gly270Arg)

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

rs1577558821 
NM_003924.3(PHOX2B):c.812A>C (p.Gln271Pro)

rs1334079108 
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.833G>T (p.Gly278Val)

rs1577558795 
NM_003924.3(PHOX2B):c.851C>G (p.Pro284Arg)

rs1462459716 
NM_003924.3(PHOX2B):c.865G>A (p.Gly289Ser)

rs769663483 
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.917C>A (p.Ala306Asp)

rs1352110516 
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.937A>G (p.Met313Val)

rs1560465426 
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.*301C>G


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


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


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.235G>A (p.Ala79Thr)


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.429+5G>T


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


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


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


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.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.925G>A (p.Val309Met)


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

