Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72243738_72243889delCA2792651243PHOX2Ac.124_217+58del
n.85+1699_85+1850del
11g.72243779_72243859delCA2614940224PHOX2Ac.152_217+15del
n.85+1727_85+1807del
gnomAD v4
11g.72243811_72243921delCA2614940421PHOX2Ac.92_202del (p.Gly31_Pro67del)
n.85+1667_85+1777del
gnomAD v4
11g.72243850delCA2614940577PHOX2Ac.155del (p.Leu52ProfsTer?)
n.85+1730del
gnomAD v4
11g.72243850A>CCA381746600PHOX2Ac.155T>G (p.Leu52Arg)
n.85+1730T>G
11g.72243850A>GCA381746595PHOX2Ac.155T>C (p.Leu52Pro)
n.85+1730T>C
gnomAD v4
11g.72243850A>TCA381746593PHOX2Ac.155T>A (p.Leu52His)
n.85+1730T>A
gnomAD v4
11g.72243851G>ACA381746603PHOX2Ac.154C>T (p.Leu52Phe)
n.85+1729C>T
gnomAD v4
11g.72243851G>CCA381746604PHOX2Ac.154C>G (p.Leu52Val)
n.85+1729C>G
dbSNP gnomAD v3 gnomAD v4
11g.72243851G=CA1981904788PHOX2Ac.154C= (p.Leu52=)
n.85+1729C=
11g.72243851G>TCA381746607PHOX2Ac.154C>A (p.Leu52Ile)
n.85+1729C>A
gnomAD v4
11g.72243852delCA2614940604PHOX2Ac.153del (p.Leu52SerfsTer?)
n.85+1728del
gnomAD v4
11g.72243852C>ACA475598269PHOX2Ac.153G>T (p.Ala51=)
n.85+1728G>T
gnomAD v4
11g.72243852C>GCA475598270PHOX2Ac.153G>C (p.Ala51=)
n.85+1728G>C
11g.72243852C>TCA475598271PHOX2Ac.153G>A (p.Ala51=)
n.85+1728G>A
gnomAD v4
11g.72243853G>ACA381746610PHOX2Ac.152C>T (p.Ala51Val)
n.85+1727C>T
gnomAD v4
11g.72243853G>CCA381746612PHOX2Ac.152C>G (p.Ala51Gly)
n.85+1727C>G
11g.72243853G>TCA381746615PHOX2Ac.152C>A (p.Ala51Glu)
n.85+1727C>A
gnomAD v4
11g.72243854C>ACA381746617PHOX2Ac.151G>T (p.Ala51Ser)
n.85+1726G>T
gnomAD v3 gnomAD v4
11g.72243854C>GCA381746621PHOX2Ac.151G>C (p.Ala51Pro)
n.85+1726G>C
gnomAD v4
11g.72243854C>TCA381746624PHOX2Ac.151G>A (p.Ala51Thr)
n.85+1726G>A
gnomAD v4
11g.72243855G>ACA475598273PHOX2Ac.150C>T (p.Pro50=)
n.85+1725C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243855G>CCA475598274PHOX2Ac.150C>G (p.Pro50=)
n.85+1725C>G
dbSNP gnomAD v4
11g.72243855G=CA1981904789PHOX2Ac.150C= (p.Pro50=)
n.85+1725C=
11g.72243855G>TCA475598275PHOX2Ac.150C>A (p.Pro50=)
n.85+1725C>A
gnomAD v4
11g.72243858delCA2614940615PHOX2Ac.150del (p.Ala51ArgfsTer?)
n.85+1725del
gnomAD v4
11g.72243856G>ACA381746640PHOX2Ac.149C>T (p.Pro50Leu)
n.85+1724C>T
gnomAD v4
11g.72243856G>CCA381746642PHOX2Ac.149C>G (p.Pro50Arg)
n.85+1724C>G
gnomAD v4
11g.72243856G>TCA381746644PHOX2Ac.149C>A (p.Pro50His)
n.85+1724C>A
gnomAD v4
11g.72243857G>ACA381746656PHOX2Ac.148C>T (p.Pro50Ser)
n.85+1723C>T
gnomAD v4
11g.72243857G>CCA381746657PHOX2Ac.148C>G (p.Pro50Ala)
n.85+1723C>G
dbSNP
11g.72243857G=CA1981904790PHOX2Ac.148C= (p.Pro50=)
n.85+1723C=
11g.72243857G>TCA381746654PHOX2Ac.148C>A (p.Pro50Thr)
n.85+1723C>A
gnomAD v4
11g.72243857_72243858insTCGGGTGACCTATCA2792651247PHOX2Ac.147_148insATAGGTCACCCGA (p.Pro50IlefsTer?)
n.85+1722_85+1723insATAGGTCACCCGA
11g.72243858G>ACA475598276PHOX2Ac.147C>T (p.Cys49=)
n.85+1722C>T
dbSNP gnomAD v3 gnomAD v4
11g.72243858G>CCA381746660PHOX2Ac.147C>G (p.Cys49Trp)
n.85+1722C>G
gnomAD v4
11g.72243858G=CA1981904791PHOX2Ac.147C= (p.Cys49=)
n.85+1722C=
11g.72243858G>TCA381746666PHOX2Ac.147C>A (p.Cys49Ter)
n.85+1722C>A
gnomAD v4
11g.72243859C>ACA381746669PHOX2Ac.146G>T (p.Cys49Phe)
n.85+1721G>T
gnomAD v4
11g.72243859C>GCA381746672PHOX2Ac.146G>C (p.Cys49Ser)
n.85+1721G>C
11g.72243859C>TCA381746676PHOX2Ac.146G>A (p.Cys49Tyr)
n.85+1721G>A
gnomAD v4
11g.72243860A>CCA381746686PHOX2Ac.145T>G (p.Cys49Gly)
n.85+1720T>G
11g.72243860A>GCA381746684PHOX2Ac.145T>C (p.Cys49Arg)
n.85+1720T>C
gnomAD v4
11g.72243860A>TCA381746681PHOX2Ac.145T>A (p.Cys49Ser)
n.85+1720T>A
gnomAD v4
11g.72243861G>ACA475598277PHOX2Ac.144C>T (p.Pro48=)
n.85+1719C>T
dbSNP gnomAD v2 gnomAD v4
11g.72243861G>CCA475598278PHOX2Ac.144C>G (p.Pro48=)
n.85+1719C>G
11g.72243861G=CA1981904792PHOX2Ac.144C= (p.Pro48=)
n.85+1719C=
11g.72243861G>TCA475598279PHOX2Ac.144C>A (p.Pro48=)
n.85+1719C>A
gnomAD v4
11g.72243862G>ACA224385854PHOX2Ac.143C>T (p.Pro48Leu)
n.85+1718C>T
dbSNP gnomAD v4
11g.72243862G>CCA381746709PHOX2Ac.143C>G (p.Pro48Arg)
n.85+1718C>G
gnomAD v4
11g.72243862G=CA1981904793PHOX2Ac.143C= (p.Pro48=)
n.85+1718C=
11g.72243862G>TCA381746712PHOX2Ac.143C>A (p.Pro48His)
n.85+1718C>A
gnomAD v4
11g.72243863G>ACA381746714PHOX2Ac.142C>T (p.Pro48Ser)
n.85+1717C>T
dbSNP gnomAD v4
11g.72243863G>CCA381746717PHOX2Ac.142C>G (p.Pro48Ala)
n.85+1717C>G
11g.72243863G=CA1981904794PHOX2Ac.142C= (p.Pro48=)
n.85+1717C=
11g.72243863G>TCA381746720PHOX2Ac.142C>A (p.Pro48Thr)
n.85+1717C>A
gnomAD v4
11g.72243864C>ACA475598280PHOX2Ac.141G>T (p.Pro47=)
n.85+1716G>T
dbSNP gnomAD v4
11g.72243864C>GCA475598281PHOX2Ac.141G>C (p.Pro47=)
n.85+1716G>C
11g.72243864C>TCA475598282PHOX2Ac.141G>A (p.Pro47=)
n.85+1716G>A
gnomAD v4
11g.72243865G>ACA381746728PHOX2Ac.140C>T (p.Pro47Leu)
n.85+1715C>T
gnomAD v4
11g.72243865G>CCA381746732PHOX2Ac.140C>G (p.Pro47Arg)
n.85+1715C>G
11g.72243865G>TCA381746731PHOX2Ac.140C>A (p.Pro47Gln)
n.85+1715C>A
gnomAD v4
11g.72243866G>ACA381746735PHOX2Ac.139C>T (p.Pro47Ser)
n.85+1714C>T
gnomAD v4
11g.72243866G>CCA381746737PHOX2Ac.139C>G (p.Pro47Ala)
n.85+1714C>G
gnomAD v4
11g.72243866G>TCA381746739PHOX2Ac.139C>A (p.Pro47Thr)
n.85+1714C>A
gnomAD v4
11g.72243867C>ACA475598285PHOX2Ac.138G>T (p.Gly46=)
n.85+1713G>T
gnomAD v4
11g.72243867C>GCA475598284PHOX2Ac.138G>C (p.Gly46=)
n.85+1713G>C
11g.72243867C>TCA475598283PHOX2Ac.138G>A (p.Gly46=)
n.85+1713G>A
dbSNP gnomAD v4
11g.72243869delCA2614940681PHOX2Ac.138del (p.Pro47ArgfsTer?)
n.85+1713del
gnomAD v4
11g.72243868C>ACA381746741PHOX2Ac.137G>T (p.Gly46Val)
n.85+1712G>T
gnomAD v4
11g.72243868C>GCA381746744PHOX2Ac.137G>C (p.Gly46Ala)
n.85+1712G>C
11g.72243868C>TCA381746752PHOX2Ac.137G>A (p.Gly46Glu)
n.85+1712G>A
11g.72243869C>ACA381746755PHOX2Ac.136G>T (p.Gly46Trp)
n.85+1711G>T
gnomAD v4
11g.72243869C=CA1981904795PHOX2Ac.136G= (p.Gly46=)
n.85+1711G=
11g.72243869C>GCA381746757PHOX2Ac.136G>C (p.Gly46Arg)
n.85+1711G>C
11g.72243869C>TCA381746762PHOX2Ac.136G>A (p.Gly46Arg)
n.85+1711G>A
dbSNP gnomAD v4
11g.72243870delCA2614940684PHOX2Ac.135del (p.Pro47ArgfsTer?)
n.85+1710del
gnomAD v4
11g.72243870T>ACA475598286PHOX2Ac.135A>T (p.Ala45=)
n.85+1710A>T
gnomAD v4
11g.72243870T>CCA475598287PHOX2Ac.135A>G (p.Ala45=)
n.85+1710A>G
dbSNP gnomAD v4
11g.72243870T>GCA475598288PHOX2Ac.135A>C (p.Ala45=)
n.85+1710A>C
gnomAD v4
11g.72243870T=CA1981904796PHOX2Ac.135A= (p.Ala45=)
n.85+1710A=
11g.72243871G>ACA381746767PHOX2Ac.134C>T (p.Ala45Val)
n.85+1709C>T
gnomAD v4
11g.72243871G>CCA381746770PHOX2Ac.134C>G (p.Ala45Gly)
n.85+1709C>G
11g.72243871G>TCA381746774PHOX2Ac.134C>A (p.Ala45Glu)
n.85+1709C>A
gnomAD v4
11g.72243872C>ACA381746777PHOX2Ac.133G>T (p.Ala45Ser)
n.85+1708G>T
gnomAD v4
11g.72243872C>GCA381746783PHOX2Ac.133G>C (p.Ala45Pro)
n.85+1708G>C
gnomAD v4
11g.72243872C>TCA381746780PHOX2Ac.133G>A (p.Ala45Thr)
n.85+1708G>A
gnomAD v4
11g.72243872_72243873dupCA2574913680PHOX2Ac.132_133dup (p.Ala45GlyfsTer?)
n.85+1707_85+1708dup
11g.72243873C>ACA475598289PHOX2Ac.132G>T (p.Ala44=)
n.85+1707G>T
gnomAD v4
11g.72243873C=CA1981904797PHOX2Ac.132G= (p.Ala44=)
n.85+1707G=
11g.72243873C>GCA475598291PHOX2Ac.132G>C (p.Ala44=)
n.85+1707G>C
dbSNP gnomAD v3 gnomAD v4
11g.72243873C>TCA475598290PHOX2Ac.132G>A (p.Ala44=)
n.85+1707G>A
dbSNP gnomAD v4
11g.72243874G>ACA381746785PHOX2Ac.131C>T (p.Ala44Val)
n.85+1706C>T
gnomAD v4
11g.72243874G>CCA381746791PHOX2Ac.131C>G (p.Ala44Gly)
n.85+1706C>G
11g.72243874G=CA1981904798PHOX2Ac.131C= (p.Ala44=)
n.85+1706C=
11g.72243874G>TCA381746788PHOX2Ac.131C>A (p.Ala44Glu)
n.85+1706C>A
dbSNP gnomAD v4
11g.72243875delCA2614940692PHOX2Ac.130del (p.Ala44ArgfsTer?)
n.85+1705del
gnomAD v4
11g.72243875C>ACA381746798PHOX2Ac.130G>T (p.Ala44Ser)
n.85+1705G>T
gnomAD v4
11g.72243875C>GCA381746801PHOX2Ac.130G>C (p.Ala44Pro)
n.85+1705G>C
gnomAD v4
11g.72243875C>TCA381746799PHOX2Ac.130G>A (p.Ala44Thr)
n.85+1705G>A
gnomAD v4
11g.72243876G>ACA475598292PHOX2Ac.129C>T (p.Pro43=)
n.85+1704C>T
gnomAD v4
11g.72243876G>CCA475598293PHOX2Ac.129C>G (p.Pro43=)
n.85+1704C>G
11g.72243876G>TCA475598294PHOX2Ac.129C>A (p.Pro43=)
n.85+1704C>A
gnomAD v4
11g.72243879dupCA2614940694PHOX2Ac.129dup (p.Ala44ArgfsTer?)
n.85+1704dup
gnomAD v4
11g.72243879delCA2614940695PHOX2Ac.129del (p.Ala44ArgfsTer?)
n.85+1704del
gnomAD v4
11g.72243877G>ACA381746805PHOX2Ac.128C>T (p.Pro43Leu)
n.85+1703C>T
gnomAD v4
11g.72243877G>CCA381746813PHOX2Ac.128C>G (p.Pro43Arg)
n.85+1703C>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243877G=CA1981904799PHOX2Ac.128C= (p.Pro43=)
n.85+1703C=
11g.72243877G>TCA381746809PHOX2Ac.128C>A (p.Pro43His)
n.85+1703C>A
gnomAD v4
11g.72243878G>ACA381746815PHOX2Ac.127C>T (p.Pro43Ser)
n.85+1702C>T
gnomAD v4
11g.72243878G>CCA381746817PHOX2Ac.127C>G (p.Pro43Ala)
n.85+1702C>G
11g.72243878G>TCA381746823PHOX2Ac.127C>A (p.Pro43Thr)
n.85+1702C>A
gnomAD v4
11g.72243879G>ACA475598295PHOX2Ac.126C>T (p.Phe42=)
n.85+1701C>T
gnomAD v4 COSMIC
11g.72243879G>CCA381746828PHOX2Ac.126C>G (p.Phe42Leu)
n.85+1701C>G
11g.72243879G>TCA381746830PHOX2Ac.126C>A (p.Phe42Leu)
n.85+1701C>A
gnomAD v4
11g.72243880A>CCA381746835PHOX2Ac.125T>G (p.Phe42Cys)
n.85+1700T>G
11g.72243880A>GCA381746838PHOX2Ac.125T>C (p.Phe42Ser)
n.85+1700T>C
gnomAD v4
11g.72243880A>TCA381746841PHOX2Ac.125T>A (p.Phe42Tyr)
n.85+1700T>A
11g.72243882delCA2614940700PHOX2Ac.125del (p.Phe42SerfsTer?)
n.85+1700del
gnomAD v4
11g.72243881A=CA1981904800PHOX2Ac.124T= (p.Phe42=)
n.85+1699T=
11g.72243881A>CCA6170934PHOX2Ac.124T>G (p.Phe42Val)
n.85+1699T>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243881A>GCA381746846PHOX2Ac.124T>C (p.Phe42Leu)
n.85+1699T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243881A>TCA381746849PHOX2Ac.124T>A (p.Phe42Ile)
n.85+1699T>A
11g.72243882A=CA1981904801PHOX2Ac.123T= (p.Ala41=)
n.85+1698T=
11g.72243882A>CCA475598296PHOX2Ac.123T>G (p.Ala41=)
n.85+1698T>G
gnomAD v4
11g.72243882A>GCA224385863PHOX2Ac.123T>C (p.Ala41=)
n.85+1698T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243882A>TCA475598297PHOX2Ac.123T>A (p.Ala41=)
n.85+1698T>A
gnomAD v4
11g.72243883G>ACA381746861PHOX2Ac.122C>T (p.Ala41Val)
n.85+1697C>T
gnomAD v4
11g.72243883G>CCA381746855PHOX2Ac.122C>G (p.Ala41Gly)
n.85+1697C>G
gnomAD v4
11g.72243883G>TCA381746858PHOX2Ac.122C>A (p.Ala41Asp)
n.85+1697C>A
gnomAD v4
11g.72243884C>ACA381746864PHOX2Ac.121G>T (p.Ala41Ser)
n.85+1696G>T
gnomAD v4
11g.72243884C>GCA381746867PHOX2Ac.121G>C (p.Ala41Pro)
n.85+1696G>C
gnomAD v4
11g.72243884C>TCA381746869PHOX2Ac.121G>A (p.Ala41Thr)
n.85+1696G>A
gnomAD v4
11g.72243885G>ACA475598298PHOX2Ac.120C>T (p.Pro40=)
n.85+1695C>T
gnomAD v4
11g.72243885G>CCA475598299PHOX2Ac.120C>G (p.Pro40=)
n.85+1695C>G
gnomAD v4
11g.72243885G>TCA475598300PHOX2Ac.120C>A (p.Pro40=)
n.85+1695C>A
gnomAD v4
11g.72243886G>ACA381746872PHOX2Ac.119C>T (p.Pro40Leu)
n.85+1694C>T
dbSNP gnomAD v3 gnomAD v4
11g.72243886G>CCA381746885PHOX2Ac.119C>G (p.Pro40Arg)
n.85+1694C>G
11g.72243886G=CA1981904802PHOX2Ac.119C= (p.Pro40=)
n.85+1694C=
11g.72243886G>TCA381746890PHOX2Ac.119C>A (p.Pro40His)
n.85+1694C>A
gnomAD v4
11g.72243887G>ACA6170935PHOX2Ac.118C>T (p.Pro40Ser)
n.85+1693C>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243887G>CCA381746897PHOX2Ac.118C>G (p.Pro40Ala)
n.85+1693C>G
dbSNP gnomAD v4
11g.72243887G=CA1981904803PHOX2Ac.118C= (p.Pro40=)
n.85+1693C=
11g.72243887G>TCA381746898PHOX2Ac.118C>A (p.Pro40Thr)
n.85+1693C>A
gnomAD v4
11g.72243888C>ACA475598303PHOX2Ac.117G>T (p.Arg39=)
n.85+1692G>T
gnomAD v4
11g.72243888C>GCA475598301PHOX2Ac.117G>C (p.Arg39=)
n.85+1692G>C
11g.72243888C>TCA475598302PHOX2Ac.117G>A (p.Arg39=)
n.85+1692G>A
gnomAD v4
11g.72243889C>ACA381746901PHOX2Ac.116G>T (p.Arg39Leu)
n.85+1691G>T
gnomAD v4
11g.72243889C=CA1981904804PHOX2Ac.116G= (p.Arg39=)
n.85+1691G=
11g.72243889C>GCA381746900PHOX2Ac.116G>C (p.Arg39Pro)
n.85+1691G>C
11g.72243889C>TCA381746899PHOX2Ac.116G>A (p.Arg39Gln)
n.85+1691G>A
dbSNP gnomAD v4
11g.72243890G>ACA381746903PHOX2Ac.115C>T (p.Arg39Trp)
n.85+1690C>T
gnomAD v4
11g.72243890G>CCA381746905PHOX2Ac.115C>G (p.Arg39Gly)
n.85+1690C>G
11g.72243890G=CA1981904805PHOX2Ac.115C= (p.Arg39=)
n.85+1690C=
11g.72243890G>TCA475598304PHOX2Ac.115C>A (p.Arg39=)
n.85+1690C>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243891C>ACA475598305PHOX2Ac.114G>T (p.Leu38=)
n.85+1689G>T
gnomAD v4
11g.72243891C>GCA475598306PHOX2Ac.114G>C (p.Leu38=)
n.85+1689G>C
11g.72243891C>TCA475598307PHOX2Ac.114G>A (p.Leu38=)
n.85+1689G>A
gnomAD v4
11g.72243892A>CCA381746909PHOX2Ac.113T>G (p.Leu38Arg)
n.85+1688T>G
11g.72243892A>GCA381746911PHOX2Ac.113T>C (p.Leu38Pro)
n.85+1688T>C
gnomAD v4
11g.72243892A>TCA381746915PHOX2Ac.113T>A (p.Leu38Gln)
n.85+1688T>A
gnomAD v4
11g.72243892_72243893insTCA2614940738PHOX2Ac.112_113insA (p.Leu38HisfsTer?)
n.85+1687_85+1688insA
gnomAD v4
11g.72243893G>ACA475598308PHOX2Ac.112C>T (p.Leu38=)
n.85+1687C>T
dbSNP gnomAD v4
11g.72243893G>CCA381746916PHOX2Ac.112C>G (p.Leu38Val)
n.85+1687C>G
11g.72243893G=CA1981904806PHOX2Ac.112C= (p.Leu38=)
n.85+1687C=
11g.72243893G>TCA381746917PHOX2Ac.112C>A (p.Leu38Met)
n.85+1687C>A
dbSNP gnomAD v4
11g.72243897dupCA2614940739PHOX2Ac.112dup (p.Leu38ProfsTer?)
n.85+1687dup
gnomAD v4
11g.72243897delCA2614940734PHOX2Ac.112del (p.Leu38CysfsTer?)
n.85+1687del
gnomAD v4
11g.72243894G>ACA475598309PHOX2Ac.111C>T (p.Pro37=)
n.85+1686C>T
gnomAD v4
11g.72243894G>CCA475598310PHOX2Ac.111C>G (p.Pro37=)
n.85+1686C>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243894G=CA1981904807PHOX2Ac.111C= (p.Pro37=)
n.85+1686C=
11g.72243894G>TCA475598311PHOX2Ac.111C>A (p.Pro37=)
n.85+1686C>A
gnomAD v4
11g.72243895G>ACA381746918PHOX2Ac.110C>T (p.Pro37Leu)
n.85+1685C>T
gnomAD v4
11g.72243895G>CCA381746919PHOX2Ac.110C>G (p.Pro37Arg)
n.85+1685C>G
11g.72243895G>TCA381746921PHOX2Ac.110C>A (p.Pro37His)
n.85+1685C>A
gnomAD v4
11g.72243896G>ACA381746924PHOX2Ac.109C>T (p.Pro37Ser)
n.85+1684C>T
gnomAD v4
11g.72243896G>CCA381746935PHOX2Ac.109C>G (p.Pro37Ala)
n.85+1684C>G
11g.72243896G>TCA381746939PHOX2Ac.109C>A (p.Pro37Thr)
n.85+1684C>A
gnomAD v4
11g.72243897G>ACA475598312PHOX2Ac.108C>T (p.Ser36=)
n.85+1683C>T
gnomAD v4
11g.72243897G>CCA381746941PHOX2Ac.108C>G (p.Ser36Arg)
n.85+1683C>G
gnomAD v4
11g.72243897G=CA1981904808PHOX2Ac.108C= (p.Ser36=)
n.85+1683C=
11g.72243897G>TCA381746943PHOX2Ac.108C>A (p.Ser36Arg)
n.85+1683C>A
dbSNP gnomAD v4
11g.72243898_72243900delCA2614940757PHOX2Ac.106_108del (p.Ser36del)
n.85+1681_85+1683del
gnomAD v4
11g.72243898C>ACA381746964PHOX2Ac.107G>T (p.Ser36Ile)
n.85+1682G>T
gnomAD v4
11g.72243898C>GCA381746966PHOX2Ac.107G>C (p.Ser36Thr)
n.85+1682G>C
gnomAD v4
11g.72243898C>TCA381746971PHOX2Ac.107G>A (p.Ser36Asn)
n.85+1682G>A
gnomAD v4
11g.72243899T>ACA381746975PHOX2Ac.106A>T (p.Ser36Cys)
n.85+1681A>T
11g.72243899T>CCA381746976PHOX2Ac.106A>G (p.Ser36Gly)
n.85+1681A>G
dbSNP gnomAD v4
11g.72243899T>GCA381746977PHOX2Ac.106A>C (p.Ser36Arg)
n.85+1681A>C
gnomAD v4
11g.72243899T=CA1981904809PHOX2Ac.106A= (p.Ser36=)
n.85+1681A=
11g.72243900G>ACA475598313PHOX2Ac.105C>T (p.Tyr35=)
n.85+1680C>T
gnomAD v4
11g.72243900G>CCA381746978PHOX2Ac.105C>G (p.Tyr35Ter)
n.85+1680C>G
dbSNP
11g.72243900G=CA1981904810PHOX2Ac.105C= (p.Tyr35=)
n.85+1680C=
11g.72243900G>TCA381746979PHOX2Ac.105C>A (p.Tyr35Ter)
n.85+1680C>A
gnomAD v4
11g.72243901T>ACA381746981PHOX2Ac.104A>T (p.Tyr35Phe)
n.85+1679A>T
11g.72243901T>CCA381746984PHOX2Ac.104A>G (p.Tyr35Cys)
n.85+1679A>G
gnomAD v4
11g.72243901T>GCA381746988PHOX2Ac.104A>C (p.Tyr35Ser)
n.85+1679A>C
11g.72243902A>CCA381746999PHOX2Ac.103T>G (p.Tyr35Asp)
n.85+1678T>G
11g.72243902A>GCA381747002PHOX2Ac.103T>C (p.Tyr35His)
n.85+1678T>C
gnomAD v4
11g.72243902A>TCA381746993PHOX2Ac.103T>A (p.Tyr35Asn)
n.85+1678T>A
gnomAD v4
11g.72243903T>ACA381747005PHOX2Ac.102A>T (p.Gln34His)
n.85+1677A>T
11g.72243903T>CCA475598314PHOX2Ac.102A>G (p.Gln34=)
n.85+1677A>G
gnomAD v4
11g.72243903T>GCA381747008PHOX2Ac.102A>C (p.Gln34His)
n.85+1677A>C
11g.72243904T>ACA381747009PHOX2Ac.101A>T (p.Gln34Leu)
n.85+1676A>T
gnomAD v4
11g.72243904T>CCA381747011PHOX2Ac.101A>G (p.Gln34Arg)
n.85+1676A>G
gnomAD v4
11g.72243904T>GCA381747014PHOX2Ac.101A>C (p.Gln34Pro)
n.85+1676A>C
11g.72243905G>ACA381747017PHOX2Ac.100C>T (p.Gln34Ter)
n.85+1675C>T
gnomAD v4
11g.72243905G>CCA381747015PHOX2Ac.100C>G (p.Gln34Glu)
n.85+1675C>G
11g.72243905G>TCA381747016PHOX2Ac.100C>A (p.Gln34Lys)
n.85+1675C>A
gnomAD v4
11g.72243906G>ACA475598315PHOX2Ac.99C>T (p.Phe33=)
n.85+1674C>T
gnomAD v4
11g.72243906G>CCA381747018PHOX2Ac.99C>G (p.Phe33Leu)
n.85+1674C>G
gnomAD v4
11g.72243906G>TCA381747019PHOX2Ac.99C>A (p.Phe33Leu)
n.85+1674C>A
gnomAD v4
11g.72243907A>CCA381747021PHOX2Ac.98T>G (p.Phe33Cys)
n.85+1673T>G
11g.72243907A>GCA381747022PHOX2Ac.98T>C (p.Phe33Ser)
n.85+1673T>C
gnomAD v4
11g.72243907A>TCA381747023PHOX2Ac.98T>A (p.Phe33Tyr)
n.85+1673T>A
gnomAD v4
11g.72243908A>CCA381747037PHOX2Ac.97T>G (p.Phe33Val)
n.85+1672T>G
11g.72243908A>GCA381747027PHOX2Ac.97T>C (p.Phe33Leu)
n.85+1672T>C
gnomAD v4
11g.72243908A>TCA381747033PHOX2Ac.97T>A (p.Phe33Ile)
n.85+1672T>A
gnomAD v4
11g.72243909G>ACA475598318PHOX2Ac.96C>T (p.Gly32=)
n.85+1671C>T
gnomAD v4
11g.72243909G>CCA475598317PHOX2Ac.96C>G (p.Gly32=)
n.85+1671C>G
dbSNP gnomAD v4
11g.72243909G>TCA475598316PHOX2Ac.96C>A (p.Gly32=)
n.85+1671C>A
gnomAD v4
11g.72243910C>ACA381747041PHOX2Ac.95G>T (p.Gly32Val)
n.85+1670G>T
gnomAD v4
11g.72243910C>GCA381747044PHOX2Ac.95G>C (p.Gly32Ala)
n.85+1670G>C
11g.72243910C>TCA381747045PHOX2Ac.95G>A (p.Gly32Asp)
n.85+1670G>A
gnomAD v4
11g.72243911C>ACA381747046PHOX2Ac.94G>T (p.Gly32Cys)
n.85+1669G>T
dbSNP gnomAD v2 gnomAD v4
11g.72243911C=CA1981904811PHOX2Ac.94G= (p.Gly32=)
n.85+1669G=
11g.72243911C>GCA381747047PHOX2Ac.94G>C (p.Gly32Arg)
n.85+1669G>C
11g.72243911C>TCA381747049PHOX2Ac.94G>A (p.Gly32Ser)
n.85+1669G>A
dbSNP gnomAD v4
11g.72243912G>ACA475598319PHOX2Ac.93C>T (p.Gly31=)
n.85+1668C>T
dbSNP gnomAD v3 gnomAD v4
11g.72243912G>CCA475598320PHOX2Ac.93C>G (p.Gly31=)
n.85+1668C>G
11g.72243912G=CA1981904812PHOX2Ac.93C= (p.Gly31=)
n.85+1668C=
11g.72243912G>TCA475598321PHOX2Ac.93C>A (p.Gly31=)
n.85+1668C>A
dbSNP gnomAD v4
11g.72243913C>ACA381747072PHOX2Ac.92G>T (p.Gly31Val)
n.85+1667G>T
11g.72243913C=CA1981904813PHOX2Ac.92G= (p.Gly31=)
n.85+1667G=
11g.72243913C>GCA381747076PHOX2Ac.92G>C (p.Gly31Ala)
n.85+1667G>C
11g.72243913C>TCA6170936PHOX2Ac.92G>A (p.Gly31Asp)
n.85+1667G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72243914C>ACA381747085PHOX2Ac.91G>T (p.Gly31Cys)
n.85+1666G>T
gnomAD v4
11g.72243914C>GCA381747088PHOX2Ac.91G>C (p.Gly31Arg)
n.85+1666G>C
gnomAD v4
11g.72243914C>TCA381747090PHOX2Ac.91G>A (p.Gly31Ser)
n.85+1666G>A
gnomAD v4 COSMIC
11g.72243915_72243918delCA2614940804PHOX2Ac.88_91del (p.Pro30AlafsTer?)
n.85+1663_85+1666del
gnomAD v4
11g.72243915G>ACA6170937PHOX2Ac.90C>T (p.Pro30=)
n.85+1665C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.72243915G>CCA475598323PHOX2Ac.90C>G (p.Pro30=)
n.85+1665C>G
dbSNP gnomAD v4
11g.72243915G=CA1981904814PHOX2Ac.90C= (p.Pro30=)
n.85+1665C=
11g.72243915G>TCA475598322PHOX2Ac.90C>A (p.Pro30=)
n.85+1665C>A
gnomAD v4
11g.72243917delCA2614940809PHOX2Ac.90del (p.Gly31AlafsTer?)
n.85+1665del
gnomAD v4
11g.72243916G>ACA381747098PHOX2Ac.89C>T (p.Pro30Leu)
n.85+1664C>T
gnomAD v4
11g.72243916G>CCA381747102PHOX2Ac.89C>G (p.Pro30Arg)
n.85+1664C>G
dbSNP gnomAD v4
11g.72243916G=CA1981904815PHOX2Ac.89C= (p.Pro30=)
n.85+1664C=
11g.72243916G>TCA381747101PHOX2Ac.89C>A (p.Pro30His)
n.85+1664C>A
gnomAD v4
11g.72243917G>ACA381747104PHOX2Ac.88C>T (p.Pro30Ser)
n.85+1663C>T
gnomAD v4
11g.72243917G>CCA6170938PHOX2Ac.88C>G (p.Pro30Ala)
n.85+1663C>G
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243917G=CA1981904816PHOX2Ac.88C= (p.Pro30=)
n.85+1663C=
11g.72243917G>TCA381747105PHOX2Ac.88C>A (p.Pro30Thr)
n.85+1663C>A
gnomAD v4
11g.72243918C>ACA381747107PHOX2Ac.87G>T (p.Gln29His)
n.85+1662G>T
gnomAD v4
11g.72243918C=CA1981904817PHOX2Ac.87G= (p.Gln29=)
n.85+1662G=
11g.72243918C>GCA381747111PHOX2Ac.87G>C (p.Gln29His)
n.85+1662G>C
gnomAD v4
11g.72243918C>TCA475598324PHOX2Ac.87G>A (p.Gln29=)
n.85+1662G>A
dbSNP gnomAD v2 gnomAD v4
11g.72243919T>ACA381747115PHOX2Ac.86A>T (p.Gln29Leu)
n.85+1661A>T
11g.72243919T>CCA381747128PHOX2Ac.86A>G (p.Gln29Arg)
n.85+1661A>G
gnomAD v4
11g.72243919T>GCA381747133PHOX2Ac.86A>C (p.Gln29Pro)
n.85+1661A>C
gnomAD v4
11g.72243920G>ACA381747140PHOX2Ac.85C>T (p.Gln29Ter)
n.85+1660C>T
gnomAD v4
11g.72243920G>CCA381747146PHOX2Ac.85C>G (p.Gln29Glu)
n.85+1660C>G
11g.72243920G>TCA381747149PHOX2Ac.85C>A (p.Gln29Lys)
n.85+1660C>A
gnomAD v4
11g.72243921delCA2614940832PHOX2Ac.85del (p.Gln29SerfsTer?)
n.85+1660del
gnomAD v4
11g.72243921G>ACA475598325PHOX2Ac.84C>T (p.Ser28=)
n.85+1659C>T
gnomAD v4
11g.72243921G>CCA381747153PHOX2Ac.84C>G (p.Ser28Arg)
n.85+1659C>G
11g.72243921G>TCA381747155PHOX2Ac.84C>A (p.Ser28Arg)
n.85+1659C>A
gnomAD v4
11g.72243922C>ACA381747171PHOX2Ac.83G>T (p.Ser28Ile)
n.85+1658G>T
gnomAD v4
11g.72243922C>GCA381747162PHOX2Ac.83G>C (p.Ser28Thr)
n.85+1658G>C
11g.72243922C>TCA381747166PHOX2Ac.83G>A (p.Ser28Asn)
n.85+1658G>A
gnomAD v4
11g.72243923T>ACA381747174PHOX2Ac.82A>T (p.Ser28Cys)
n.85+1657A>T
gnomAD v4
11g.72243923T>CCA381747179PHOX2Ac.82A>G (p.Ser28Gly)
n.85+1657A>G
gnomAD v4
11g.72243923T>GCA381747181PHOX2Ac.82A>C (p.Ser28Arg)
n.85+1657A>C
11g.72243924delCA2792651364PHOX2Ac.81del (p.Cys27Ter)
n.85+1656del
11g.72243924G>ACA475598326PHOX2Ac.81C>T (p.Cys27=)
n.85+1656C>T
gnomAD v4
11g.72243924G>CCA381747185PHOX2Ac.81C>G (p.Cys27Trp)
n.85+1656C>G
gnomAD v4
11g.72243924G>TCA381747189PHOX2Ac.81C>A (p.Cys27Ter)
n.85+1656C>A
gnomAD v4
11g.72243925C>ACA381747206PHOX2Ac.80G>T (p.Cys27Phe)
n.85+1655G>T
dbSNP gnomAD v3 gnomAD v4
11g.72243925C=CA1981904818PHOX2Ac.80G= (p.Cys27=)
n.85+1655G=
11g.72243925C>GCA381747209PHOX2Ac.80G>C (p.Cys27Ser)
n.85+1655G>C
gnomAD v4
11g.72243925C>TCA381747210PHOX2Ac.80G>A (p.Cys27Tyr)
n.85+1655G>A
gnomAD v4
11g.72243926A=CA1981904819PHOX2Ac.79T= (p.Cys27=)
n.85+1654T=
11g.72243926A>CCA381747214PHOX2Ac.79T>G (p.Cys27Gly)
n.85+1654T>G
gnomAD v4
11g.72243926A>GCA381747220PHOX2Ac.79T>C (p.Cys27Arg)
n.85+1654T>C
dbSNP gnomAD v2 gnomAD v4
11g.72243926A>TCA381747223PHOX2Ac.79T>A (p.Cys27Ser)
n.85+1654T>A
gnomAD v4
11g.72243927G>ACA6170939PHOX2Ac.78C>T (p.Ala26=)
n.85+1653C>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243927G>CCA475598327PHOX2Ac.78C>G (p.Ala26=)
n.85+1653C>G
11g.72243927G=CA1981904820PHOX2Ac.78C= (p.Ala26=)
n.85+1653C=
11g.72243927G>TCA475598328PHOX2Ac.78C>A (p.Ala26=)
n.85+1653C>A
gnomAD v4
11g.72243928G>ACA381747251PHOX2Ac.77C>T (p.Ala26Val)
n.85+1652C>T
gnomAD v4
11g.72243928G>CCA381747257PHOX2Ac.77C>G (p.Ala26Gly)
n.85+1652C>G
11g.72243928G>TCA381747237PHOX2Ac.77C>A (p.Ala26Asp)
n.85+1652C>A
gnomAD v4
11g.72243929C>ACA224385909PHOX2Ac.76G>T (p.Ala26Ser)
n.85+1651G>T
dbSNP gnomAD v4
11g.72243929C=CA1981904821PHOX2Ac.76G= (p.Ala26=)
n.85+1651G=
11g.72243929C>GCA381747260PHOX2Ac.76G>C (p.Ala26Pro)
n.85+1651G>C
dbSNP gnomAD v4
11g.72243929C>TCA381747266PHOX2Ac.76G>A (p.Ala26Thr)
n.85+1651G>A
gnomAD v4
11g.72243930G>ACA475598329PHOX2Ac.75C>T (p.Gly25=)
n.85+1650C>T
dbSNP gnomAD v2 gnomAD v4
11g.72243930G>CCA475598330PHOX2Ac.75C>G (p.Gly25=)
n.85+1650C>G
11g.72243930G=CA1981904822PHOX2Ac.75C= (p.Gly25=)
n.85+1650C=
11g.72243930G>TCA475598331PHOX2Ac.75C>A (p.Gly25=)
n.85+1650C>A
gnomAD v4
11g.72243931C>ACA381747273PHOX2Ac.74G>T (p.Gly25Val)
n.85+1649G>T
gnomAD v4
11g.72243931C>GCA381747277PHOX2Ac.74G>C (p.Gly25Ala)
n.85+1649G>C
gnomAD v4
11g.72243931C>TCA381747282PHOX2Ac.74G>A (p.Gly25Asp)
n.85+1649G>A
11g.72243932C>ACA381747289PHOX2Ac.73G>T (p.Gly25Cys)
n.85+1648G>T
gnomAD v4
11g.72243932C>GCA381747293PHOX2Ac.73G>C (p.Gly25Arg)
n.85+1648G>C
11g.72243932C>TCA381747307PHOX2Ac.73G>A (p.Gly25Ser)
n.85+1648G>A
gnomAD v4
11g.72243933A=CA1981904823PHOX2Ac.72T= (p.Phe24=)
n.85+1647T=
11g.72243933A>CCA381747311PHOX2Ac.72T>G (p.Phe24Leu)
n.85+1647T>G
11g.72243933A>GCA475598332PHOX2Ac.72T>C (p.Phe24=)
n.85+1647T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.72243933A>TCA381747312PHOX2Ac.72T>A (p.Phe24Leu)
n.85+1647T>A
gnomAD v4
11g.72243934A>CCA381747319PHOX2Ac.71T>G (p.Phe24Cys)
n.85+1646T>G
11g.72243934A>GCA381747323PHOX2Ac.71T>C (p.Phe24Ser)
n.85+1646T>C
gnomAD v4
11g.72243934A>TCA381747329PHOX2Ac.71T>A (p.Phe24Tyr)
n.85+1646T>A
gnomAD v4
11g.72243935A>CCA381747349PHOX2Ac.70T>G (p.Phe24Val)
n.85+1645T>G
11g.72243935A>GCA381747333PHOX2Ac.70T>C (p.Phe24Leu)
n.85+1645T>C
gnomAD v4
11g.72243935A>TCA381747341PHOX2Ac.70T>A (p.Phe24Ile)
n.85+1645T>A
gnomAD v4
11g.72243936G>ACA224385910PHOX2Ac.69C>T (p.Asp23=)
n.85+1644C>T
dbSNP gnomAD v4
11g.72243936G>CCA381747358PHOX2Ac.69C>G (p.Asp23Glu)
n.85+1644C>G
11g.72243936G=CA1981904824PHOX2Ac.69C= (p.Asp23=)
n.85+1644C=
11g.72243936G>TCA381747361PHOX2Ac.69C>A (p.Asp23Glu)
n.85+1644C>A
11g.72243937T>ACA381747363PHOX2Ac.68A>T (p.Asp23Val)
n.85+1643A>T
gnomAD v4
11g.72243937T>CCA381747366PHOX2Ac.68A>G (p.Asp23Gly)
n.85+1643A>G
gnomAD v4
11g.72243937T>GCA381747368PHOX2Ac.68A>C (p.Asp23Ala)
n.85+1643A>C
11g.72243938C>ACA381747372PHOX2Ac.67G>T (p.Asp23Tyr)
n.85+1642G>T
gnomAD v4
11g.72243938C>GCA381747397PHOX2Ac.67G>C (p.Asp23His)
n.85+1642G>C
11g.72243938C>TCA381747403PHOX2Ac.67G>A (p.Asp23Asn)
n.85+1642G>A
gnomAD v4 COSMIC
11g.72243939G>ACA6170940PHOX2Ac.66C>T (p.Gly22=)
n.85+1641C>T
dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC
11g.72243939G>CCA475598334PHOX2Ac.66C>G (p.Gly22=)
n.85+1641C>G
gnomAD v4
11g.72243939G=CA1981904825PHOX2Ac.66C= (p.Gly22=)
n.85+1641C=
11g.72243939G>TCA475598333PHOX2Ac.66C>A (p.Gly22=)
n.85+1641C>A
gnomAD v4
11g.72243940C>ACA381747411PHOX2Ac.65G>T (p.Gly22Val)
n.85+1640G>T
gnomAD v4
11g.72243940C=CA1981904826PHOX2Ac.65G= (p.Gly22=)
n.85+1640G=
11g.72243940C>GCA381747416PHOX2Ac.65G>C (p.Gly22Ala)
n.85+1640G>C
11g.72243940C>TCA381747419PHOX2Ac.65G>A (p.Gly22Asp)
n.85+1640G>A
dbSNP gnomAD v3 gnomAD v4
11g.72243941C>ACA381747425PHOX2Ac.64G>T (p.Gly22Cys)
n.85+1639G>T
gnomAD v4
11g.72243941C=CA1981904827PHOX2Ac.64G= (p.Gly22=)
n.85+1639G=
11g.72243941C>GCA224385911PHOX2Ac.64G>C (p.Gly22Arg)
n.85+1639G>C
dbSNP gnomAD v4
11g.72243941C>TCA381747424PHOX2Ac.64G>A (p.Gly22Ser)
n.85+1639G>A
gnomAD v4
11g.72243942G>ACA6170941PHOX2Ac.63C>T (p.Tyr21=)
n.85+1638C>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243942G>CCA381747426PHOX2Ac.63C>G (p.Tyr21Ter)
n.85+1638C>G
11g.72243942G=CA1981904828PHOX2Ac.63C= (p.Tyr21=)
n.85+1638C=
11g.72243942G>TCA381747431PHOX2Ac.63C>A (p.Tyr21Ter)
n.85+1638C>A
gnomAD v4
11g.72243943T>ACA381747440PHOX2Ac.62A>T (p.Tyr21Phe)
n.85+1637A>T
11g.72243943T>CCA381747446PHOX2Ac.62A>G (p.Tyr21Cys)
n.85+1637A>G
11g.72243943T>GCA381747453PHOX2Ac.62A>C (p.Tyr21Ser)
n.85+1637A>C
11g.72243944A>CCA381747458PHOX2Ac.61T>G (p.Tyr21Asp)
n.85+1636T>G
11g.72243944A>GCA381747459PHOX2Ac.61T>C (p.Tyr21His)
n.85+1636T>C
gnomAD v4
11g.72243944A>TCA381747460PHOX2Ac.61T>A (p.Tyr21Asn)
n.85+1636T>A
gnomAD v4
11g.72243945G>ACA475598336PHOX2Ac.60C>T (p.Ala20=)
n.85+1635C>T
gnomAD v4
11g.72243945G>CCA475598337PHOX2Ac.60C>G (p.Ala20=)
n.85+1635C>G
11g.72243945G>TCA475598338PHOX2Ac.60C>A (p.Ala20=)
n.85+1635C>A
gnomAD v4
11g.72243946G>ACA381747933PHOX2Ac.59C>T (p.Ala20Val)
n.85+1634C>T
gnomAD v4
11g.72243946G>CCA381747937PHOX2Ac.59C>G (p.Ala20Gly)
n.85+1634C>G
11g.72243946G>TCA381747946PHOX2Ac.59C>A (p.Ala20Asp)
n.85+1634C>A
gnomAD v4
11g.72243947C>ACA381747947PHOX2Ac.58G>T (p.Ala20Ser)
n.85+1633G>T
gnomAD v4
11g.72243947C=CA1981904829PHOX2Ac.58G= (p.Ala20=)
n.85+1633G=
11g.72243947C>GCA381747948PHOX2Ac.58G>C (p.Ala20Pro)
n.85+1633G>C
11g.72243947C>TCA381747949PHOX2Ac.58G>A (p.Ala20Thr)
n.85+1633G>A
dbSNP gnomAD v3 gnomAD v4
11g.72243948G>ACA475598393PHOX2Ac.57C>T (p.Ser19=)
n.85+1632C>T
dbSNP gnomAD v3 gnomAD v4
11g.72243948G>CCA475598394PHOX2Ac.57C>G (p.Ser19=)
n.85+1632C>G
11g.72243948G=CA1981904830PHOX2Ac.57C= (p.Ser19=)
n.85+1632C=
11g.72243948G>TCA6170942PHOX2Ac.57C>A (p.Ser19=)
n.85+1632C>A
dbSNP ExAC gnomAD v2 gnomAD v4
11g.72243949G>ACA381747953PHOX2Ac.56C>T (p.Ser19Phe)
n.85+1631C>T
dbSNP gnomAD v4
11g.72243949G>CCA381747957PHOX2Ac.56C>G (p.Ser19Cys)
n.85+1631C>G
dbSNP
11g.72243949G>TCA381747960PHOX2Ac.56C>A (p.Ser19Tyr)
n.85+1631C>A
gnomAD v4
11g.72243950A>CCA381747962PHOX2Ac.55T>G (p.Ser19Ala)
n.85+1630T>G
11g.72243950A>GCA381747967PHOX2Ac.55T>C (p.Ser19Pro)
n.85+1630T>C
dbSNP gnomAD v4
11g.72243950A>TCA381747969PHOX2Ac.55T>A (p.Ser19Thr)
n.85+1630T>A
gnomAD v4

Number of alleles fetched