Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.72243738_72243889del | CA2792651243 | PHOX2A | c.124_217+58del n.85+1699_85+1850del | |
11 | g.72243779_72243859del | CA2614940224 | PHOX2A | c.152_217+15del n.85+1727_85+1807del | gnomAD v4 |
11 | g.72243811_72243921del | CA2614940421 | PHOX2A | c.92_202del (p.Gly31_Pro67del) n.85+1667_85+1777del | gnomAD v4 |
11 | g.72243850del | CA2614940577 | PHOX2A | c.155del (p.Leu52ProfsTer?) n.85+1730del | gnomAD v4 |
11 | g.72243850A>C | CA381746600 | PHOX2A | c.155T>G (p.Leu52Arg) n.85+1730T>G | |
11 | g.72243850A>G | CA381746595 | PHOX2A | c.155T>C (p.Leu52Pro) n.85+1730T>C | gnomAD v4 |
11 | g.72243850A>T | CA381746593 | PHOX2A | c.155T>A (p.Leu52His) n.85+1730T>A | gnomAD v4 |
11 | g.72243851G>A | CA381746603 | PHOX2A | c.154C>T (p.Leu52Phe) n.85+1729C>T | gnomAD v4 |
11 | g.72243851G>C | CA381746604 | PHOX2A | c.154C>G (p.Leu52Val) n.85+1729C>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243851G= | CA1981904788 | PHOX2A | c.154C= (p.Leu52=) n.85+1729C= | |
11 | g.72243851G>T | CA381746607 | PHOX2A | c.154C>A (p.Leu52Ile) n.85+1729C>A | gnomAD v4 |
11 | g.72243852del | CA2614940604 | PHOX2A | c.153del (p.Leu52SerfsTer?) n.85+1728del | gnomAD v4 |
11 | g.72243852C>A | CA475598269 | PHOX2A | c.153G>T (p.Ala51=) n.85+1728G>T | gnomAD v4 |
11 | g.72243852C>G | CA475598270 | PHOX2A | c.153G>C (p.Ala51=) n.85+1728G>C | |
11 | g.72243852C>T | CA475598271 | PHOX2A | c.153G>A (p.Ala51=) n.85+1728G>A | gnomAD v4 |
11 | g.72243853G>A | CA381746610 | PHOX2A | c.152C>T (p.Ala51Val) n.85+1727C>T | gnomAD v4 |
11 | g.72243853G>C | CA381746612 | PHOX2A | c.152C>G (p.Ala51Gly) n.85+1727C>G | |
11 | g.72243853G>T | CA381746615 | PHOX2A | c.152C>A (p.Ala51Glu) n.85+1727C>A | gnomAD v4 |
11 | g.72243854C>A | CA381746617 | PHOX2A | c.151G>T (p.Ala51Ser) n.85+1726G>T | gnomAD v3 gnomAD v4 |
11 | g.72243854C>G | CA381746621 | PHOX2A | c.151G>C (p.Ala51Pro) n.85+1726G>C | gnomAD v4 |
11 | g.72243854C>T | CA381746624 | PHOX2A | c.151G>A (p.Ala51Thr) n.85+1726G>A | gnomAD v4 |
11 | g.72243855G>A | CA475598273 | PHOX2A | c.150C>T (p.Pro50=) n.85+1725C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243855G>C | CA475598274 | PHOX2A | c.150C>G (p.Pro50=) n.85+1725C>G | dbSNP gnomAD v4 |
11 | g.72243855G= | CA1981904789 | PHOX2A | c.150C= (p.Pro50=) n.85+1725C= | |
11 | g.72243855G>T | CA475598275 | PHOX2A | c.150C>A (p.Pro50=) n.85+1725C>A | gnomAD v4 |
11 | g.72243858del | CA2614940615 | PHOX2A | c.150del (p.Ala51ArgfsTer?) n.85+1725del | gnomAD v4 |
11 | g.72243856G>A | CA381746640 | PHOX2A | c.149C>T (p.Pro50Leu) n.85+1724C>T | gnomAD v4 |
11 | g.72243856G>C | CA381746642 | PHOX2A | c.149C>G (p.Pro50Arg) n.85+1724C>G | gnomAD v4 |
11 | g.72243856G>T | CA381746644 | PHOX2A | c.149C>A (p.Pro50His) n.85+1724C>A | gnomAD v4 |
11 | g.72243857G>A | CA381746656 | PHOX2A | c.148C>T (p.Pro50Ser) n.85+1723C>T | gnomAD v4 |
11 | g.72243857G>C | CA381746657 | PHOX2A | c.148C>G (p.Pro50Ala) n.85+1723C>G | dbSNP |
11 | g.72243857G= | CA1981904790 | PHOX2A | c.148C= (p.Pro50=) n.85+1723C= | |
11 | g.72243857G>T | CA381746654 | PHOX2A | c.148C>A (p.Pro50Thr) n.85+1723C>A | gnomAD v4 |
11 | g.72243857_72243858insTCGGGTGACCTAT | CA2792651247 | PHOX2A | c.147_148insATAGGTCACCCGA (p.Pro50IlefsTer?) n.85+1722_85+1723insATAGGTCACCCGA | |
11 | g.72243858G>A | CA475598276 | PHOX2A | c.147C>T (p.Cys49=) n.85+1722C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243858G>C | CA381746660 | PHOX2A | c.147C>G (p.Cys49Trp) n.85+1722C>G | gnomAD v4 |
11 | g.72243858G= | CA1981904791 | PHOX2A | c.147C= (p.Cys49=) n.85+1722C= | |
11 | g.72243858G>T | CA381746666 | PHOX2A | c.147C>A (p.Cys49Ter) n.85+1722C>A | gnomAD v4 |
11 | g.72243859C>A | CA381746669 | PHOX2A | c.146G>T (p.Cys49Phe) n.85+1721G>T | gnomAD v4 |
11 | g.72243859C>G | CA381746672 | PHOX2A | c.146G>C (p.Cys49Ser) n.85+1721G>C | |
11 | g.72243859C>T | CA381746676 | PHOX2A | c.146G>A (p.Cys49Tyr) n.85+1721G>A | gnomAD v4 |
11 | g.72243860A>C | CA381746686 | PHOX2A | c.145T>G (p.Cys49Gly) n.85+1720T>G | |
11 | g.72243860A>G | CA381746684 | PHOX2A | c.145T>C (p.Cys49Arg) n.85+1720T>C | gnomAD v4 |
11 | g.72243860A>T | CA381746681 | PHOX2A | c.145T>A (p.Cys49Ser) n.85+1720T>A | gnomAD v4 |
11 | g.72243861G>A | CA475598277 | PHOX2A | c.144C>T (p.Pro48=) n.85+1719C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243861G>C | CA475598278 | PHOX2A | c.144C>G (p.Pro48=) n.85+1719C>G | |
11 | g.72243861G= | CA1981904792 | PHOX2A | c.144C= (p.Pro48=) n.85+1719C= | |
11 | g.72243861G>T | CA475598279 | PHOX2A | c.144C>A (p.Pro48=) n.85+1719C>A | gnomAD v4 |
11 | g.72243862G>A | CA224385854 | PHOX2A | c.143C>T (p.Pro48Leu) n.85+1718C>T | dbSNP gnomAD v4 |
11 | g.72243862G>C | CA381746709 | PHOX2A | c.143C>G (p.Pro48Arg) n.85+1718C>G | gnomAD v4 |
11 | g.72243862G= | CA1981904793 | PHOX2A | c.143C= (p.Pro48=) n.85+1718C= | |
11 | g.72243862G>T | CA381746712 | PHOX2A | c.143C>A (p.Pro48His) n.85+1718C>A | gnomAD v4 |
11 | g.72243863G>A | CA381746714 | PHOX2A | c.142C>T (p.Pro48Ser) n.85+1717C>T | dbSNP gnomAD v4 |
11 | g.72243863G>C | CA381746717 | PHOX2A | c.142C>G (p.Pro48Ala) n.85+1717C>G | |
11 | g.72243863G= | CA1981904794 | PHOX2A | c.142C= (p.Pro48=) n.85+1717C= | |
11 | g.72243863G>T | CA381746720 | PHOX2A | c.142C>A (p.Pro48Thr) n.85+1717C>A | gnomAD v4 |
11 | g.72243864C>A | CA475598280 | PHOX2A | c.141G>T (p.Pro47=) n.85+1716G>T | dbSNP gnomAD v4 |
11 | g.72243864C>G | CA475598281 | PHOX2A | c.141G>C (p.Pro47=) n.85+1716G>C | |
11 | g.72243864C>T | CA475598282 | PHOX2A | c.141G>A (p.Pro47=) n.85+1716G>A | gnomAD v4 |
11 | g.72243865G>A | CA381746728 | PHOX2A | c.140C>T (p.Pro47Leu) n.85+1715C>T | gnomAD v4 |
11 | g.72243865G>C | CA381746732 | PHOX2A | c.140C>G (p.Pro47Arg) n.85+1715C>G | |
11 | g.72243865G>T | CA381746731 | PHOX2A | c.140C>A (p.Pro47Gln) n.85+1715C>A | gnomAD v4 |
11 | g.72243866G>A | CA381746735 | PHOX2A | c.139C>T (p.Pro47Ser) n.85+1714C>T | gnomAD v4 |
11 | g.72243866G>C | CA381746737 | PHOX2A | c.139C>G (p.Pro47Ala) n.85+1714C>G | gnomAD v4 |
11 | g.72243866G>T | CA381746739 | PHOX2A | c.139C>A (p.Pro47Thr) n.85+1714C>A | gnomAD v4 |
11 | g.72243867C>A | CA475598285 | PHOX2A | c.138G>T (p.Gly46=) n.85+1713G>T | gnomAD v4 |
11 | g.72243867C>G | CA475598284 | PHOX2A | c.138G>C (p.Gly46=) n.85+1713G>C | |
11 | g.72243867C>T | CA475598283 | PHOX2A | c.138G>A (p.Gly46=) n.85+1713G>A | dbSNP gnomAD v4 |
11 | g.72243869del | CA2614940681 | PHOX2A | c.138del (p.Pro47ArgfsTer?) n.85+1713del | gnomAD v4 |
11 | g.72243868C>A | CA381746741 | PHOX2A | c.137G>T (p.Gly46Val) n.85+1712G>T | gnomAD v4 |
11 | g.72243868C>G | CA381746744 | PHOX2A | c.137G>C (p.Gly46Ala) n.85+1712G>C | |
11 | g.72243868C>T | CA381746752 | PHOX2A | c.137G>A (p.Gly46Glu) n.85+1712G>A | |
11 | g.72243869C>A | CA381746755 | PHOX2A | c.136G>T (p.Gly46Trp) n.85+1711G>T | gnomAD v4 |
11 | g.72243869C= | CA1981904795 | PHOX2A | c.136G= (p.Gly46=) n.85+1711G= | |
11 | g.72243869C>G | CA381746757 | PHOX2A | c.136G>C (p.Gly46Arg) n.85+1711G>C | |
11 | g.72243869C>T | CA381746762 | PHOX2A | c.136G>A (p.Gly46Arg) n.85+1711G>A | dbSNP gnomAD v4 |
11 | g.72243870del | CA2614940684 | PHOX2A | c.135del (p.Pro47ArgfsTer?) n.85+1710del | gnomAD v4 |
11 | g.72243870T>A | CA475598286 | PHOX2A | c.135A>T (p.Ala45=) n.85+1710A>T | gnomAD v4 |
11 | g.72243870T>C | CA475598287 | PHOX2A | c.135A>G (p.Ala45=) n.85+1710A>G | dbSNP gnomAD v4 |
11 | g.72243870T>G | CA475598288 | PHOX2A | c.135A>C (p.Ala45=) n.85+1710A>C | gnomAD v4 |
11 | g.72243870T= | CA1981904796 | PHOX2A | c.135A= (p.Ala45=) n.85+1710A= | |
11 | g.72243871G>A | CA381746767 | PHOX2A | c.134C>T (p.Ala45Val) n.85+1709C>T | gnomAD v4 |
11 | g.72243871G>C | CA381746770 | PHOX2A | c.134C>G (p.Ala45Gly) n.85+1709C>G | |
11 | g.72243871G>T | CA381746774 | PHOX2A | c.134C>A (p.Ala45Glu) n.85+1709C>A | gnomAD v4 |
11 | g.72243872C>A | CA381746777 | PHOX2A | c.133G>T (p.Ala45Ser) n.85+1708G>T | gnomAD v4 |
11 | g.72243872C>G | CA381746783 | PHOX2A | c.133G>C (p.Ala45Pro) n.85+1708G>C | gnomAD v4 |
11 | g.72243872C>T | CA381746780 | PHOX2A | c.133G>A (p.Ala45Thr) n.85+1708G>A | gnomAD v4 |
11 | g.72243872_72243873dup | CA2574913680 | PHOX2A | c.132_133dup (p.Ala45GlyfsTer?) n.85+1707_85+1708dup | |
11 | g.72243873C>A | CA475598289 | PHOX2A | c.132G>T (p.Ala44=) n.85+1707G>T | gnomAD v4 |
11 | g.72243873C= | CA1981904797 | PHOX2A | c.132G= (p.Ala44=) n.85+1707G= | |
11 | g.72243873C>G | CA475598291 | PHOX2A | c.132G>C (p.Ala44=) n.85+1707G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243873C>T | CA475598290 | PHOX2A | c.132G>A (p.Ala44=) n.85+1707G>A | dbSNP gnomAD v4 |
11 | g.72243874G>A | CA381746785 | PHOX2A | c.131C>T (p.Ala44Val) n.85+1706C>T | gnomAD v4 |
11 | g.72243874G>C | CA381746791 | PHOX2A | c.131C>G (p.Ala44Gly) n.85+1706C>G | |
11 | g.72243874G= | CA1981904798 | PHOX2A | c.131C= (p.Ala44=) n.85+1706C= | |
11 | g.72243874G>T | CA381746788 | PHOX2A | c.131C>A (p.Ala44Glu) n.85+1706C>A | dbSNP gnomAD v4 |
11 | g.72243875del | CA2614940692 | PHOX2A | c.130del (p.Ala44ArgfsTer?) n.85+1705del | gnomAD v4 |
11 | g.72243875C>A | CA381746798 | PHOX2A | c.130G>T (p.Ala44Ser) n.85+1705G>T | gnomAD v4 |
11 | g.72243875C>G | CA381746801 | PHOX2A | c.130G>C (p.Ala44Pro) n.85+1705G>C | gnomAD v4 |
11 | g.72243875C>T | CA381746799 | PHOX2A | c.130G>A (p.Ala44Thr) n.85+1705G>A | gnomAD v4 |
11 | g.72243876G>A | CA475598292 | PHOX2A | c.129C>T (p.Pro43=) n.85+1704C>T | gnomAD v4 |
11 | g.72243876G>C | CA475598293 | PHOX2A | c.129C>G (p.Pro43=) n.85+1704C>G | |
11 | g.72243876G>T | CA475598294 | PHOX2A | c.129C>A (p.Pro43=) n.85+1704C>A | gnomAD v4 |
11 | g.72243879dup | CA2614940694 | PHOX2A | c.129dup (p.Ala44ArgfsTer?) n.85+1704dup | gnomAD v4 |
11 | g.72243879del | CA2614940695 | PHOX2A | c.129del (p.Ala44ArgfsTer?) n.85+1704del | gnomAD v4 |
11 | g.72243877G>A | CA381746805 | PHOX2A | c.128C>T (p.Pro43Leu) n.85+1703C>T | gnomAD v4 |
11 | g.72243877G>C | CA381746813 | PHOX2A | c.128C>G (p.Pro43Arg) n.85+1703C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243877G= | CA1981904799 | PHOX2A | c.128C= (p.Pro43=) n.85+1703C= | |
11 | g.72243877G>T | CA381746809 | PHOX2A | c.128C>A (p.Pro43His) n.85+1703C>A | gnomAD v4 |
11 | g.72243878G>A | CA381746815 | PHOX2A | c.127C>T (p.Pro43Ser) n.85+1702C>T | gnomAD v4 |
11 | g.72243878G>C | CA381746817 | PHOX2A | c.127C>G (p.Pro43Ala) n.85+1702C>G | |
11 | g.72243878G>T | CA381746823 | PHOX2A | c.127C>A (p.Pro43Thr) n.85+1702C>A | gnomAD v4 |
11 | g.72243879G>A | CA475598295 | PHOX2A | c.126C>T (p.Phe42=) n.85+1701C>T | gnomAD v4 COSMIC |
11 | g.72243879G>C | CA381746828 | PHOX2A | c.126C>G (p.Phe42Leu) n.85+1701C>G | |
11 | g.72243879G>T | CA381746830 | PHOX2A | c.126C>A (p.Phe42Leu) n.85+1701C>A | gnomAD v4 |
11 | g.72243880A>C | CA381746835 | PHOX2A | c.125T>G (p.Phe42Cys) n.85+1700T>G | |
11 | g.72243880A>G | CA381746838 | PHOX2A | c.125T>C (p.Phe42Ser) n.85+1700T>C | gnomAD v4 |
11 | g.72243880A>T | CA381746841 | PHOX2A | c.125T>A (p.Phe42Tyr) n.85+1700T>A | |
11 | g.72243882del | CA2614940700 | PHOX2A | c.125del (p.Phe42SerfsTer?) n.85+1700del | gnomAD v4 |
11 | g.72243881A= | CA1981904800 | PHOX2A | c.124T= (p.Phe42=) n.85+1699T= | |
11 | g.72243881A>C | CA6170934 | PHOX2A | c.124T>G (p.Phe42Val) n.85+1699T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243881A>G | CA381746846 | PHOX2A | c.124T>C (p.Phe42Leu) n.85+1699T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243881A>T | CA381746849 | PHOX2A | c.124T>A (p.Phe42Ile) n.85+1699T>A | |
11 | g.72243882A= | CA1981904801 | PHOX2A | c.123T= (p.Ala41=) n.85+1698T= | |
11 | g.72243882A>C | CA475598296 | PHOX2A | c.123T>G (p.Ala41=) n.85+1698T>G | gnomAD v4 |
11 | g.72243882A>G | CA224385863 | PHOX2A | c.123T>C (p.Ala41=) n.85+1698T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243882A>T | CA475598297 | PHOX2A | c.123T>A (p.Ala41=) n.85+1698T>A | gnomAD v4 |
11 | g.72243883G>A | CA381746861 | PHOX2A | c.122C>T (p.Ala41Val) n.85+1697C>T | gnomAD v4 |
11 | g.72243883G>C | CA381746855 | PHOX2A | c.122C>G (p.Ala41Gly) n.85+1697C>G | gnomAD v4 |
11 | g.72243883G>T | CA381746858 | PHOX2A | c.122C>A (p.Ala41Asp) n.85+1697C>A | gnomAD v4 |
11 | g.72243884C>A | CA381746864 | PHOX2A | c.121G>T (p.Ala41Ser) n.85+1696G>T | gnomAD v4 |
11 | g.72243884C>G | CA381746867 | PHOX2A | c.121G>C (p.Ala41Pro) n.85+1696G>C | gnomAD v4 |
11 | g.72243884C>T | CA381746869 | PHOX2A | c.121G>A (p.Ala41Thr) n.85+1696G>A | gnomAD v4 |
11 | g.72243885G>A | CA475598298 | PHOX2A | c.120C>T (p.Pro40=) n.85+1695C>T | gnomAD v4 |
11 | g.72243885G>C | CA475598299 | PHOX2A | c.120C>G (p.Pro40=) n.85+1695C>G | gnomAD v4 |
11 | g.72243885G>T | CA475598300 | PHOX2A | c.120C>A (p.Pro40=) n.85+1695C>A | gnomAD v4 |
11 | g.72243886G>A | CA381746872 | PHOX2A | c.119C>T (p.Pro40Leu) n.85+1694C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243886G>C | CA381746885 | PHOX2A | c.119C>G (p.Pro40Arg) n.85+1694C>G | |
11 | g.72243886G= | CA1981904802 | PHOX2A | c.119C= (p.Pro40=) n.85+1694C= | |
11 | g.72243886G>T | CA381746890 | PHOX2A | c.119C>A (p.Pro40His) n.85+1694C>A | gnomAD v4 |
11 | g.72243887G>A | CA6170935 | PHOX2A | c.118C>T (p.Pro40Ser) n.85+1693C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243887G>C | CA381746897 | PHOX2A | c.118C>G (p.Pro40Ala) n.85+1693C>G | dbSNP gnomAD v4 |
11 | g.72243887G= | CA1981904803 | PHOX2A | c.118C= (p.Pro40=) n.85+1693C= | |
11 | g.72243887G>T | CA381746898 | PHOX2A | c.118C>A (p.Pro40Thr) n.85+1693C>A | gnomAD v4 |
11 | g.72243888C>A | CA475598303 | PHOX2A | c.117G>T (p.Arg39=) n.85+1692G>T | gnomAD v4 |
11 | g.72243888C>G | CA475598301 | PHOX2A | c.117G>C (p.Arg39=) n.85+1692G>C | |
11 | g.72243888C>T | CA475598302 | PHOX2A | c.117G>A (p.Arg39=) n.85+1692G>A | gnomAD v4 |
11 | g.72243889C>A | CA381746901 | PHOX2A | c.116G>T (p.Arg39Leu) n.85+1691G>T | gnomAD v4 |
11 | g.72243889C= | CA1981904804 | PHOX2A | c.116G= (p.Arg39=) n.85+1691G= | |
11 | g.72243889C>G | CA381746900 | PHOX2A | c.116G>C (p.Arg39Pro) n.85+1691G>C | |
11 | g.72243889C>T | CA381746899 | PHOX2A | c.116G>A (p.Arg39Gln) n.85+1691G>A | dbSNP gnomAD v4 |
11 | g.72243890G>A | CA381746903 | PHOX2A | c.115C>T (p.Arg39Trp) n.85+1690C>T | gnomAD v4 |
11 | g.72243890G>C | CA381746905 | PHOX2A | c.115C>G (p.Arg39Gly) n.85+1690C>G | |
11 | g.72243890G= | CA1981904805 | PHOX2A | c.115C= (p.Arg39=) n.85+1690C= | |
11 | g.72243890G>T | CA475598304 | PHOX2A | c.115C>A (p.Arg39=) n.85+1690C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243891C>A | CA475598305 | PHOX2A | c.114G>T (p.Leu38=) n.85+1689G>T | gnomAD v4 |
11 | g.72243891C>G | CA475598306 | PHOX2A | c.114G>C (p.Leu38=) n.85+1689G>C | |
11 | g.72243891C>T | CA475598307 | PHOX2A | c.114G>A (p.Leu38=) n.85+1689G>A | gnomAD v4 |
11 | g.72243892A>C | CA381746909 | PHOX2A | c.113T>G (p.Leu38Arg) n.85+1688T>G | |
11 | g.72243892A>G | CA381746911 | PHOX2A | c.113T>C (p.Leu38Pro) n.85+1688T>C | gnomAD v4 |
11 | g.72243892A>T | CA381746915 | PHOX2A | c.113T>A (p.Leu38Gln) n.85+1688T>A | gnomAD v4 |
11 | g.72243892_72243893insT | CA2614940738 | PHOX2A | c.112_113insA (p.Leu38HisfsTer?) n.85+1687_85+1688insA | gnomAD v4 |
11 | g.72243893G>A | CA475598308 | PHOX2A | c.112C>T (p.Leu38=) n.85+1687C>T | dbSNP gnomAD v4 |
11 | g.72243893G>C | CA381746916 | PHOX2A | c.112C>G (p.Leu38Val) n.85+1687C>G | |
11 | g.72243893G= | CA1981904806 | PHOX2A | c.112C= (p.Leu38=) n.85+1687C= | |
11 | g.72243893G>T | CA381746917 | PHOX2A | c.112C>A (p.Leu38Met) n.85+1687C>A | dbSNP gnomAD v4 |
11 | g.72243897dup | CA2614940739 | PHOX2A | c.112dup (p.Leu38ProfsTer?) n.85+1687dup | gnomAD v4 |
11 | g.72243897del | CA2614940734 | PHOX2A | c.112del (p.Leu38CysfsTer?) n.85+1687del | gnomAD v4 |
11 | g.72243894G>A | CA475598309 | PHOX2A | c.111C>T (p.Pro37=) n.85+1686C>T | gnomAD v4 |
11 | g.72243894G>C | CA475598310 | PHOX2A | c.111C>G (p.Pro37=) n.85+1686C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243894G= | CA1981904807 | PHOX2A | c.111C= (p.Pro37=) n.85+1686C= | |
11 | g.72243894G>T | CA475598311 | PHOX2A | c.111C>A (p.Pro37=) n.85+1686C>A | gnomAD v4 |
11 | g.72243895G>A | CA381746918 | PHOX2A | c.110C>T (p.Pro37Leu) n.85+1685C>T | gnomAD v4 |
11 | g.72243895G>C | CA381746919 | PHOX2A | c.110C>G (p.Pro37Arg) n.85+1685C>G | |
11 | g.72243895G>T | CA381746921 | PHOX2A | c.110C>A (p.Pro37His) n.85+1685C>A | gnomAD v4 |
11 | g.72243896G>A | CA381746924 | PHOX2A | c.109C>T (p.Pro37Ser) n.85+1684C>T | gnomAD v4 |
11 | g.72243896G>C | CA381746935 | PHOX2A | c.109C>G (p.Pro37Ala) n.85+1684C>G | |
11 | g.72243896G>T | CA381746939 | PHOX2A | c.109C>A (p.Pro37Thr) n.85+1684C>A | gnomAD v4 |
11 | g.72243897G>A | CA475598312 | PHOX2A | c.108C>T (p.Ser36=) n.85+1683C>T | gnomAD v4 |
11 | g.72243897G>C | CA381746941 | PHOX2A | c.108C>G (p.Ser36Arg) n.85+1683C>G | gnomAD v4 |
11 | g.72243897G= | CA1981904808 | PHOX2A | c.108C= (p.Ser36=) n.85+1683C= | |
11 | g.72243897G>T | CA381746943 | PHOX2A | c.108C>A (p.Ser36Arg) n.85+1683C>A | dbSNP gnomAD v4 |
11 | g.72243898_72243900del | CA2614940757 | PHOX2A | c.106_108del (p.Ser36del) n.85+1681_85+1683del | gnomAD v4 |
11 | g.72243898C>A | CA381746964 | PHOX2A | c.107G>T (p.Ser36Ile) n.85+1682G>T | gnomAD v4 |
11 | g.72243898C>G | CA381746966 | PHOX2A | c.107G>C (p.Ser36Thr) n.85+1682G>C | gnomAD v4 |
11 | g.72243898C>T | CA381746971 | PHOX2A | c.107G>A (p.Ser36Asn) n.85+1682G>A | gnomAD v4 |
11 | g.72243899T>A | CA381746975 | PHOX2A | c.106A>T (p.Ser36Cys) n.85+1681A>T | |
11 | g.72243899T>C | CA381746976 | PHOX2A | c.106A>G (p.Ser36Gly) n.85+1681A>G | dbSNP gnomAD v4 |
11 | g.72243899T>G | CA381746977 | PHOX2A | c.106A>C (p.Ser36Arg) n.85+1681A>C | gnomAD v4 |
11 | g.72243899T= | CA1981904809 | PHOX2A | c.106A= (p.Ser36=) n.85+1681A= | |
11 | g.72243900G>A | CA475598313 | PHOX2A | c.105C>T (p.Tyr35=) n.85+1680C>T | gnomAD v4 |
11 | g.72243900G>C | CA381746978 | PHOX2A | c.105C>G (p.Tyr35Ter) n.85+1680C>G | dbSNP |
11 | g.72243900G= | CA1981904810 | PHOX2A | c.105C= (p.Tyr35=) n.85+1680C= | |
11 | g.72243900G>T | CA381746979 | PHOX2A | c.105C>A (p.Tyr35Ter) n.85+1680C>A | gnomAD v4 |
11 | g.72243901T>A | CA381746981 | PHOX2A | c.104A>T (p.Tyr35Phe) n.85+1679A>T | |
11 | g.72243901T>C | CA381746984 | PHOX2A | c.104A>G (p.Tyr35Cys) n.85+1679A>G | gnomAD v4 |
11 | g.72243901T>G | CA381746988 | PHOX2A | c.104A>C (p.Tyr35Ser) n.85+1679A>C | |
11 | g.72243902A>C | CA381746999 | PHOX2A | c.103T>G (p.Tyr35Asp) n.85+1678T>G | |
11 | g.72243902A>G | CA381747002 | PHOX2A | c.103T>C (p.Tyr35His) n.85+1678T>C | gnomAD v4 |
11 | g.72243902A>T | CA381746993 | PHOX2A | c.103T>A (p.Tyr35Asn) n.85+1678T>A | gnomAD v4 |
11 | g.72243903T>A | CA381747005 | PHOX2A | c.102A>T (p.Gln34His) n.85+1677A>T | |
11 | g.72243903T>C | CA475598314 | PHOX2A | c.102A>G (p.Gln34=) n.85+1677A>G | gnomAD v4 |
11 | g.72243903T>G | CA381747008 | PHOX2A | c.102A>C (p.Gln34His) n.85+1677A>C | |
11 | g.72243904T>A | CA381747009 | PHOX2A | c.101A>T (p.Gln34Leu) n.85+1676A>T | gnomAD v4 |
11 | g.72243904T>C | CA381747011 | PHOX2A | c.101A>G (p.Gln34Arg) n.85+1676A>G | gnomAD v4 |
11 | g.72243904T>G | CA381747014 | PHOX2A | c.101A>C (p.Gln34Pro) n.85+1676A>C | |
11 | g.72243905G>A | CA381747017 | PHOX2A | c.100C>T (p.Gln34Ter) n.85+1675C>T | gnomAD v4 |
11 | g.72243905G>C | CA381747015 | PHOX2A | c.100C>G (p.Gln34Glu) n.85+1675C>G | |
11 | g.72243905G>T | CA381747016 | PHOX2A | c.100C>A (p.Gln34Lys) n.85+1675C>A | gnomAD v4 |
11 | g.72243906G>A | CA475598315 | PHOX2A | c.99C>T (p.Phe33=) n.85+1674C>T | gnomAD v4 |
11 | g.72243906G>C | CA381747018 | PHOX2A | c.99C>G (p.Phe33Leu) n.85+1674C>G | gnomAD v4 |
11 | g.72243906G>T | CA381747019 | PHOX2A | c.99C>A (p.Phe33Leu) n.85+1674C>A | gnomAD v4 |
11 | g.72243907A>C | CA381747021 | PHOX2A | c.98T>G (p.Phe33Cys) n.85+1673T>G | |
11 | g.72243907A>G | CA381747022 | PHOX2A | c.98T>C (p.Phe33Ser) n.85+1673T>C | gnomAD v4 |
11 | g.72243907A>T | CA381747023 | PHOX2A | c.98T>A (p.Phe33Tyr) n.85+1673T>A | gnomAD v4 |
11 | g.72243908A>C | CA381747037 | PHOX2A | c.97T>G (p.Phe33Val) n.85+1672T>G | |
11 | g.72243908A>G | CA381747027 | PHOX2A | c.97T>C (p.Phe33Leu) n.85+1672T>C | gnomAD v4 |
11 | g.72243908A>T | CA381747033 | PHOX2A | c.97T>A (p.Phe33Ile) n.85+1672T>A | gnomAD v4 |
11 | g.72243909G>A | CA475598318 | PHOX2A | c.96C>T (p.Gly32=) n.85+1671C>T | gnomAD v4 |
11 | g.72243909G>C | CA475598317 | PHOX2A | c.96C>G (p.Gly32=) n.85+1671C>G | dbSNP gnomAD v4 |
11 | g.72243909G>T | CA475598316 | PHOX2A | c.96C>A (p.Gly32=) n.85+1671C>A | gnomAD v4 |
11 | g.72243910C>A | CA381747041 | PHOX2A | c.95G>T (p.Gly32Val) n.85+1670G>T | gnomAD v4 |
11 | g.72243910C>G | CA381747044 | PHOX2A | c.95G>C (p.Gly32Ala) n.85+1670G>C | |
11 | g.72243910C>T | CA381747045 | PHOX2A | c.95G>A (p.Gly32Asp) n.85+1670G>A | gnomAD v4 |
11 | g.72243911C>A | CA381747046 | PHOX2A | c.94G>T (p.Gly32Cys) n.85+1669G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243911C= | CA1981904811 | PHOX2A | c.94G= (p.Gly32=) n.85+1669G= | |
11 | g.72243911C>G | CA381747047 | PHOX2A | c.94G>C (p.Gly32Arg) n.85+1669G>C | |
11 | g.72243911C>T | CA381747049 | PHOX2A | c.94G>A (p.Gly32Ser) n.85+1669G>A | dbSNP gnomAD v4 |
11 | g.72243912G>A | CA475598319 | PHOX2A | c.93C>T (p.Gly31=) n.85+1668C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243912G>C | CA475598320 | PHOX2A | c.93C>G (p.Gly31=) n.85+1668C>G | |
11 | g.72243912G= | CA1981904812 | PHOX2A | c.93C= (p.Gly31=) n.85+1668C= | |
11 | g.72243912G>T | CA475598321 | PHOX2A | c.93C>A (p.Gly31=) n.85+1668C>A | dbSNP gnomAD v4 |
11 | g.72243913C>A | CA381747072 | PHOX2A | c.92G>T (p.Gly31Val) n.85+1667G>T | |
11 | g.72243913C= | CA1981904813 | PHOX2A | c.92G= (p.Gly31=) n.85+1667G= | |
11 | g.72243913C>G | CA381747076 | PHOX2A | c.92G>C (p.Gly31Ala) n.85+1667G>C | |
11 | g.72243913C>T | CA6170936 | PHOX2A | c.92G>A (p.Gly31Asp) n.85+1667G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243914C>A | CA381747085 | PHOX2A | c.91G>T (p.Gly31Cys) n.85+1666G>T | gnomAD v4 |
11 | g.72243914C>G | CA381747088 | PHOX2A | c.91G>C (p.Gly31Arg) n.85+1666G>C | gnomAD v4 |
11 | g.72243914C>T | CA381747090 | PHOX2A | c.91G>A (p.Gly31Ser) n.85+1666G>A | gnomAD v4 COSMIC |
11 | g.72243915_72243918del | CA2614940804 | PHOX2A | c.88_91del (p.Pro30AlafsTer?) n.85+1663_85+1666del | gnomAD v4 |
11 | g.72243915G>A | CA6170937 | PHOX2A | c.90C>T (p.Pro30=) n.85+1665C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243915G>C | CA475598323 | PHOX2A | c.90C>G (p.Pro30=) n.85+1665C>G | dbSNP gnomAD v4 |
11 | g.72243915G= | CA1981904814 | PHOX2A | c.90C= (p.Pro30=) n.85+1665C= | |
11 | g.72243915G>T | CA475598322 | PHOX2A | c.90C>A (p.Pro30=) n.85+1665C>A | gnomAD v4 |
11 | g.72243917del | CA2614940809 | PHOX2A | c.90del (p.Gly31AlafsTer?) n.85+1665del | gnomAD v4 |
11 | g.72243916G>A | CA381747098 | PHOX2A | c.89C>T (p.Pro30Leu) n.85+1664C>T | gnomAD v4 |
11 | g.72243916G>C | CA381747102 | PHOX2A | c.89C>G (p.Pro30Arg) n.85+1664C>G | dbSNP gnomAD v4 |
11 | g.72243916G= | CA1981904815 | PHOX2A | c.89C= (p.Pro30=) n.85+1664C= | |
11 | g.72243916G>T | CA381747101 | PHOX2A | c.89C>A (p.Pro30His) n.85+1664C>A | gnomAD v4 |
11 | g.72243917G>A | CA381747104 | PHOX2A | c.88C>T (p.Pro30Ser) n.85+1663C>T | gnomAD v4 |
11 | g.72243917G>C | CA6170938 | PHOX2A | c.88C>G (p.Pro30Ala) n.85+1663C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243917G= | CA1981904816 | PHOX2A | c.88C= (p.Pro30=) n.85+1663C= | |
11 | g.72243917G>T | CA381747105 | PHOX2A | c.88C>A (p.Pro30Thr) n.85+1663C>A | gnomAD v4 |
11 | g.72243918C>A | CA381747107 | PHOX2A | c.87G>T (p.Gln29His) n.85+1662G>T | gnomAD v4 |
11 | g.72243918C= | CA1981904817 | PHOX2A | c.87G= (p.Gln29=) n.85+1662G= | |
11 | g.72243918C>G | CA381747111 | PHOX2A | c.87G>C (p.Gln29His) n.85+1662G>C | gnomAD v4 |
11 | g.72243918C>T | CA475598324 | PHOX2A | c.87G>A (p.Gln29=) n.85+1662G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243919T>A | CA381747115 | PHOX2A | c.86A>T (p.Gln29Leu) n.85+1661A>T | |
11 | g.72243919T>C | CA381747128 | PHOX2A | c.86A>G (p.Gln29Arg) n.85+1661A>G | gnomAD v4 |
11 | g.72243919T>G | CA381747133 | PHOX2A | c.86A>C (p.Gln29Pro) n.85+1661A>C | gnomAD v4 |
11 | g.72243920G>A | CA381747140 | PHOX2A | c.85C>T (p.Gln29Ter) n.85+1660C>T | gnomAD v4 |
11 | g.72243920G>C | CA381747146 | PHOX2A | c.85C>G (p.Gln29Glu) n.85+1660C>G | |
11 | g.72243920G>T | CA381747149 | PHOX2A | c.85C>A (p.Gln29Lys) n.85+1660C>A | gnomAD v4 |
11 | g.72243921del | CA2614940832 | PHOX2A | c.85del (p.Gln29SerfsTer?) n.85+1660del | gnomAD v4 |
11 | g.72243921G>A | CA475598325 | PHOX2A | c.84C>T (p.Ser28=) n.85+1659C>T | gnomAD v4 |
11 | g.72243921G>C | CA381747153 | PHOX2A | c.84C>G (p.Ser28Arg) n.85+1659C>G | |
11 | g.72243921G>T | CA381747155 | PHOX2A | c.84C>A (p.Ser28Arg) n.85+1659C>A | gnomAD v4 |
11 | g.72243922C>A | CA381747171 | PHOX2A | c.83G>T (p.Ser28Ile) n.85+1658G>T | gnomAD v4 |
11 | g.72243922C>G | CA381747162 | PHOX2A | c.83G>C (p.Ser28Thr) n.85+1658G>C | |
11 | g.72243922C>T | CA381747166 | PHOX2A | c.83G>A (p.Ser28Asn) n.85+1658G>A | gnomAD v4 |
11 | g.72243923T>A | CA381747174 | PHOX2A | c.82A>T (p.Ser28Cys) n.85+1657A>T | gnomAD v4 |
11 | g.72243923T>C | CA381747179 | PHOX2A | c.82A>G (p.Ser28Gly) n.85+1657A>G | gnomAD v4 |
11 | g.72243923T>G | CA381747181 | PHOX2A | c.82A>C (p.Ser28Arg) n.85+1657A>C | |
11 | g.72243924del | CA2792651364 | PHOX2A | c.81del (p.Cys27Ter) n.85+1656del | |
11 | g.72243924G>A | CA475598326 | PHOX2A | c.81C>T (p.Cys27=) n.85+1656C>T | gnomAD v4 |
11 | g.72243924G>C | CA381747185 | PHOX2A | c.81C>G (p.Cys27Trp) n.85+1656C>G | gnomAD v4 |
11 | g.72243924G>T | CA381747189 | PHOX2A | c.81C>A (p.Cys27Ter) n.85+1656C>A | gnomAD v4 |
11 | g.72243925C>A | CA381747206 | PHOX2A | c.80G>T (p.Cys27Phe) n.85+1655G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243925C= | CA1981904818 | PHOX2A | c.80G= (p.Cys27=) n.85+1655G= | |
11 | g.72243925C>G | CA381747209 | PHOX2A | c.80G>C (p.Cys27Ser) n.85+1655G>C | gnomAD v4 |
11 | g.72243925C>T | CA381747210 | PHOX2A | c.80G>A (p.Cys27Tyr) n.85+1655G>A | gnomAD v4 |
11 | g.72243926A= | CA1981904819 | PHOX2A | c.79T= (p.Cys27=) n.85+1654T= | |
11 | g.72243926A>C | CA381747214 | PHOX2A | c.79T>G (p.Cys27Gly) n.85+1654T>G | gnomAD v4 |
11 | g.72243926A>G | CA381747220 | PHOX2A | c.79T>C (p.Cys27Arg) n.85+1654T>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243926A>T | CA381747223 | PHOX2A | c.79T>A (p.Cys27Ser) n.85+1654T>A | gnomAD v4 |
11 | g.72243927G>A | CA6170939 | PHOX2A | c.78C>T (p.Ala26=) n.85+1653C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243927G>C | CA475598327 | PHOX2A | c.78C>G (p.Ala26=) n.85+1653C>G | |
11 | g.72243927G= | CA1981904820 | PHOX2A | c.78C= (p.Ala26=) n.85+1653C= | |
11 | g.72243927G>T | CA475598328 | PHOX2A | c.78C>A (p.Ala26=) n.85+1653C>A | gnomAD v4 |
11 | g.72243928G>A | CA381747251 | PHOX2A | c.77C>T (p.Ala26Val) n.85+1652C>T | gnomAD v4 |
11 | g.72243928G>C | CA381747257 | PHOX2A | c.77C>G (p.Ala26Gly) n.85+1652C>G | |
11 | g.72243928G>T | CA381747237 | PHOX2A | c.77C>A (p.Ala26Asp) n.85+1652C>A | gnomAD v4 |
11 | g.72243929C>A | CA224385909 | PHOX2A | c.76G>T (p.Ala26Ser) n.85+1651G>T | dbSNP gnomAD v4 |
11 | g.72243929C= | CA1981904821 | PHOX2A | c.76G= (p.Ala26=) n.85+1651G= | |
11 | g.72243929C>G | CA381747260 | PHOX2A | c.76G>C (p.Ala26Pro) n.85+1651G>C | dbSNP gnomAD v4 |
11 | g.72243929C>T | CA381747266 | PHOX2A | c.76G>A (p.Ala26Thr) n.85+1651G>A | gnomAD v4 |
11 | g.72243930G>A | CA475598329 | PHOX2A | c.75C>T (p.Gly25=) n.85+1650C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.72243930G>C | CA475598330 | PHOX2A | c.75C>G (p.Gly25=) n.85+1650C>G | |
11 | g.72243930G= | CA1981904822 | PHOX2A | c.75C= (p.Gly25=) n.85+1650C= | |
11 | g.72243930G>T | CA475598331 | PHOX2A | c.75C>A (p.Gly25=) n.85+1650C>A | gnomAD v4 |
11 | g.72243931C>A | CA381747273 | PHOX2A | c.74G>T (p.Gly25Val) n.85+1649G>T | gnomAD v4 |
11 | g.72243931C>G | CA381747277 | PHOX2A | c.74G>C (p.Gly25Ala) n.85+1649G>C | gnomAD v4 |
11 | g.72243931C>T | CA381747282 | PHOX2A | c.74G>A (p.Gly25Asp) n.85+1649G>A | |
11 | g.72243932C>A | CA381747289 | PHOX2A | c.73G>T (p.Gly25Cys) n.85+1648G>T | gnomAD v4 |
11 | g.72243932C>G | CA381747293 | PHOX2A | c.73G>C (p.Gly25Arg) n.85+1648G>C | |
11 | g.72243932C>T | CA381747307 | PHOX2A | c.73G>A (p.Gly25Ser) n.85+1648G>A | gnomAD v4 |
11 | g.72243933A= | CA1981904823 | PHOX2A | c.72T= (p.Phe24=) n.85+1647T= | |
11 | g.72243933A>C | CA381747311 | PHOX2A | c.72T>G (p.Phe24Leu) n.85+1647T>G | |
11 | g.72243933A>G | CA475598332 | PHOX2A | c.72T>C (p.Phe24=) n.85+1647T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.72243933A>T | CA381747312 | PHOX2A | c.72T>A (p.Phe24Leu) n.85+1647T>A | gnomAD v4 |
11 | g.72243934A>C | CA381747319 | PHOX2A | c.71T>G (p.Phe24Cys) n.85+1646T>G | |
11 | g.72243934A>G | CA381747323 | PHOX2A | c.71T>C (p.Phe24Ser) n.85+1646T>C | gnomAD v4 |
11 | g.72243934A>T | CA381747329 | PHOX2A | c.71T>A (p.Phe24Tyr) n.85+1646T>A | gnomAD v4 |
11 | g.72243935A>C | CA381747349 | PHOX2A | c.70T>G (p.Phe24Val) n.85+1645T>G | |
11 | g.72243935A>G | CA381747333 | PHOX2A | c.70T>C (p.Phe24Leu) n.85+1645T>C | gnomAD v4 |
11 | g.72243935A>T | CA381747341 | PHOX2A | c.70T>A (p.Phe24Ile) n.85+1645T>A | gnomAD v4 |
11 | g.72243936G>A | CA224385910 | PHOX2A | c.69C>T (p.Asp23=) n.85+1644C>T | dbSNP gnomAD v4 |
11 | g.72243936G>C | CA381747358 | PHOX2A | c.69C>G (p.Asp23Glu) n.85+1644C>G | |
11 | g.72243936G= | CA1981904824 | PHOX2A | c.69C= (p.Asp23=) n.85+1644C= | |
11 | g.72243936G>T | CA381747361 | PHOX2A | c.69C>A (p.Asp23Glu) n.85+1644C>A | |
11 | g.72243937T>A | CA381747363 | PHOX2A | c.68A>T (p.Asp23Val) n.85+1643A>T | gnomAD v4 |
11 | g.72243937T>C | CA381747366 | PHOX2A | c.68A>G (p.Asp23Gly) n.85+1643A>G | gnomAD v4 |
11 | g.72243937T>G | CA381747368 | PHOX2A | c.68A>C (p.Asp23Ala) n.85+1643A>C | |
11 | g.72243938C>A | CA381747372 | PHOX2A | c.67G>T (p.Asp23Tyr) n.85+1642G>T | gnomAD v4 |
11 | g.72243938C>G | CA381747397 | PHOX2A | c.67G>C (p.Asp23His) n.85+1642G>C | |
11 | g.72243938C>T | CA381747403 | PHOX2A | c.67G>A (p.Asp23Asn) n.85+1642G>A | gnomAD v4 COSMIC |
11 | g.72243939G>A | CA6170940 | PHOX2A | c.66C>T (p.Gly22=) n.85+1641C>T | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
11 | g.72243939G>C | CA475598334 | PHOX2A | c.66C>G (p.Gly22=) n.85+1641C>G | gnomAD v4 |
11 | g.72243939G= | CA1981904825 | PHOX2A | c.66C= (p.Gly22=) n.85+1641C= | |
11 | g.72243939G>T | CA475598333 | PHOX2A | c.66C>A (p.Gly22=) n.85+1641C>A | gnomAD v4 |
11 | g.72243940C>A | CA381747411 | PHOX2A | c.65G>T (p.Gly22Val) n.85+1640G>T | gnomAD v4 |
11 | g.72243940C= | CA1981904826 | PHOX2A | c.65G= (p.Gly22=) n.85+1640G= | |
11 | g.72243940C>G | CA381747416 | PHOX2A | c.65G>C (p.Gly22Ala) n.85+1640G>C | |
11 | g.72243940C>T | CA381747419 | PHOX2A | c.65G>A (p.Gly22Asp) n.85+1640G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243941C>A | CA381747425 | PHOX2A | c.64G>T (p.Gly22Cys) n.85+1639G>T | gnomAD v4 |
11 | g.72243941C= | CA1981904827 | PHOX2A | c.64G= (p.Gly22=) n.85+1639G= | |
11 | g.72243941C>G | CA224385911 | PHOX2A | c.64G>C (p.Gly22Arg) n.85+1639G>C | dbSNP gnomAD v4 |
11 | g.72243941C>T | CA381747424 | PHOX2A | c.64G>A (p.Gly22Ser) n.85+1639G>A | gnomAD v4 |
11 | g.72243942G>A | CA6170941 | PHOX2A | c.63C>T (p.Tyr21=) n.85+1638C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243942G>C | CA381747426 | PHOX2A | c.63C>G (p.Tyr21Ter) n.85+1638C>G | |
11 | g.72243942G= | CA1981904828 | PHOX2A | c.63C= (p.Tyr21=) n.85+1638C= | |
11 | g.72243942G>T | CA381747431 | PHOX2A | c.63C>A (p.Tyr21Ter) n.85+1638C>A | gnomAD v4 |
11 | g.72243943T>A | CA381747440 | PHOX2A | c.62A>T (p.Tyr21Phe) n.85+1637A>T | |
11 | g.72243943T>C | CA381747446 | PHOX2A | c.62A>G (p.Tyr21Cys) n.85+1637A>G | |
11 | g.72243943T>G | CA381747453 | PHOX2A | c.62A>C (p.Tyr21Ser) n.85+1637A>C | |
11 | g.72243944A>C | CA381747458 | PHOX2A | c.61T>G (p.Tyr21Asp) n.85+1636T>G | |
11 | g.72243944A>G | CA381747459 | PHOX2A | c.61T>C (p.Tyr21His) n.85+1636T>C | gnomAD v4 |
11 | g.72243944A>T | CA381747460 | PHOX2A | c.61T>A (p.Tyr21Asn) n.85+1636T>A | gnomAD v4 |
11 | g.72243945G>A | CA475598336 | PHOX2A | c.60C>T (p.Ala20=) n.85+1635C>T | gnomAD v4 |
11 | g.72243945G>C | CA475598337 | PHOX2A | c.60C>G (p.Ala20=) n.85+1635C>G | |
11 | g.72243945G>T | CA475598338 | PHOX2A | c.60C>A (p.Ala20=) n.85+1635C>A | gnomAD v4 |
11 | g.72243946G>A | CA381747933 | PHOX2A | c.59C>T (p.Ala20Val) n.85+1634C>T | gnomAD v4 |
11 | g.72243946G>C | CA381747937 | PHOX2A | c.59C>G (p.Ala20Gly) n.85+1634C>G | |
11 | g.72243946G>T | CA381747946 | PHOX2A | c.59C>A (p.Ala20Asp) n.85+1634C>A | gnomAD v4 |
11 | g.72243947C>A | CA381747947 | PHOX2A | c.58G>T (p.Ala20Ser) n.85+1633G>T | gnomAD v4 |
11 | g.72243947C= | CA1981904829 | PHOX2A | c.58G= (p.Ala20=) n.85+1633G= | |
11 | g.72243947C>G | CA381747948 | PHOX2A | c.58G>C (p.Ala20Pro) n.85+1633G>C | |
11 | g.72243947C>T | CA381747949 | PHOX2A | c.58G>A (p.Ala20Thr) n.85+1633G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243948G>A | CA475598393 | PHOX2A | c.57C>T (p.Ser19=) n.85+1632C>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.72243948G>C | CA475598394 | PHOX2A | c.57C>G (p.Ser19=) n.85+1632C>G | |
11 | g.72243948G= | CA1981904830 | PHOX2A | c.57C= (p.Ser19=) n.85+1632C= | |
11 | g.72243948G>T | CA6170942 | PHOX2A | c.57C>A (p.Ser19=) n.85+1632C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.72243949G>A | CA381747953 | PHOX2A | c.56C>T (p.Ser19Phe) n.85+1631C>T | dbSNP gnomAD v4 |
11 | g.72243949G>C | CA381747957 | PHOX2A | c.56C>G (p.Ser19Cys) n.85+1631C>G | dbSNP |
11 | g.72243949G>T | CA381747960 | PHOX2A | c.56C>A (p.Ser19Tyr) n.85+1631C>A | gnomAD v4 |
11 | g.72243950A>C | CA381747962 | PHOX2A | c.55T>G (p.Ser19Ala) n.85+1630T>G | |
11 | g.72243950A>G | CA381747967 | PHOX2A | c.55T>C (p.Ser19Pro) n.85+1630T>C | dbSNP gnomAD v4 |
11 | g.72243950A>T | CA381747969 | PHOX2A | c.55T>A (p.Ser19Thr) n.85+1630T>A | gnomAD v4 |