| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41746150_41746155dup | CA2580616091 | PHOX2B | c.603_608dup (p.Asn203_Pro204insProAsn) n.424_429dup | ClinVar |
| 4 | g.41746152G>A | CA439143107 | PHOX2B | c.600C>T (p.Pro200=) n.421C>T | ClinVar gnomAD v4 |
| 4 | g.41746152G>C | CA439143109 | PHOX2B | c.600C>G (p.Pro200=) n.421C>G | ClinVar dbSNP |
| 4 | g.41746152G>T | CA439143111 | PHOX2B | c.600C>A (p.Pro200=) n.421C>A | gnomAD v4 |
| 4 | g.41746154del | CA2586973820 | PHOX2B | c.600del (p.Asn201IlefsTer?) n.421del | |
| 4 | g.41746153G>A | CA95828574 | PHOX2B | c.599C>T (p.Pro200Leu) n.420C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746153G>C | CA356737800 | PHOX2B | c.599C>G (p.Pro200Arg) n.420C>G | |
| 4 | g.41746153G>T | CA356737802 | PHOX2B | c.599C>A (p.Pro200His) n.420C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746154G>A | CA356737806 | PHOX2B | c.598C>T (p.Pro200Ser) n.419C>T | |
| 4 | g.41746154G>C | CA356737809 | PHOX2B | c.598C>G (p.Pro200Ala) n.419C>G | |
| 4 | g.41746154G>T | CA356737812 | PHOX2B | c.598C>A (p.Pro200Thr) n.419C>A | gnomAD v4 |
| 4 | g.41746155A>C | CA439143117 | PHOX2B | c.597T>G (p.Gly199=) n.418T>G | |
| 4 | g.41746155A>G | CA439143119 | PHOX2B | c.597T>C (p.Gly199=) n.418T>C | |
| 4 | g.41746155A>T | CA439143121 | PHOX2B | c.597T>A (p.Gly199=) n.418T>A | |
| 4 | g.41746156C>A | CA356737818 | PHOX2B | c.596G>T (p.Gly199Val) n.417G>T | COSMIC |
| 4 | g.41746156C>G | CA356737820 | PHOX2B | c.596G>C (p.Gly199Ala) n.417G>C | |
| 4 | g.41746156C>T | CA356737823 | PHOX2B | c.596G>A (p.Gly199Asp) n.417G>A | |
| 4 | g.41746158_41746166del | CA2670427176 | PHOX2B | c.588_596del (p.Gly197_Gly199del) n.409_417del | gnomAD v4 |
| 4 | g.41746157C>A | CA356737826 | PHOX2B | c.595G>T (p.Gly199Cys) n.416G>T | |
| 4 | g.41746157C>G | CA356737828 | PHOX2B | c.595G>C (p.Gly199Arg) n.416G>C | |
| 4 | g.41746157C>T | CA356737831 | PHOX2B | c.595G>A (p.Gly199Ser) n.416G>A | gnomAD v4 |
| 4 | g.41746158T>A | CA439143131 | PHOX2B | c.594A>T (p.Pro198=) n.415A>T | |
| 4 | g.41746158T>C | CA439143133 | PHOX2B | c.594A>G (p.Pro198=) n.415A>G | |
| 4 | g.41746158T>G | CA439143136 | PHOX2B | c.594A>C (p.Pro198=) n.415A>C | |
| 4 | g.41746159G>A | CA356737839 | PHOX2B | c.593C>T (p.Pro198Leu) n.414C>T | |
| 4 | g.41746159G>C | CA356737842 | PHOX2B | c.593C>G (p.Pro198Arg) n.414C>G | gnomAD v4 |
| 4 | g.41746159G>T | CA356737836 | PHOX2B | c.593C>A (p.Pro198Gln) n.414C>A | ClinVar |
| 4 | g.41746160G>A | CA356737845 | PHOX2B | c.592C>T (p.Pro198Ser) n.413C>T | ClinVar |
| 4 | g.41746160G>C | CA356737849 | PHOX2B | c.592C>G (p.Pro198Ala) n.413C>G | |
| 4 | g.41746160G>T | CA356737847 | PHOX2B | c.592C>A (p.Pro198Thr) n.413C>A | |
| 4 | g.41746161G>A | CA95828577 | PHOX2B | c.591C>T (p.Gly197=) n.412C>T | ClinVar dbSNP |
| 4 | g.41746161G>C | CA2901478 | PHOX2B | c.591C>G (p.Gly197=) n.412C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746161G>T | CA439143146 | PHOX2B | c.591C>A (p.Gly197=) n.412C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746162C>A | CA356737854 | PHOX2B | c.590G>T (p.Gly197Val) n.411G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746162C>G | CA356737857 | PHOX2B | c.590G>C (p.Gly197Ala) n.411G>C | |
| 4 | g.41746162C>T | CA117908 | PHOX2B | c.590G>A (p.Gly197Asp) n.411G>A | ClinVar dbSNP |
| 4 | g.41746166dup | CA2586973821 | PHOX2B | c.590dup (p.Gly199ArgfsTer?) n.411dup | |
| 4 | g.41746166del | CA645526522 | PHOX2B | c.590del (p.Gly197AlafsTer?) n.411del | gnomAD v4 COSMIC |
| 4 | g.41746163C>A | CA356737859 | PHOX2B | c.589G>T (p.Gly197Cys) n.410G>T | |
| 4 | g.41746163C>G | CA356737860 | PHOX2B | c.589G>C (p.Gly197Arg) n.410G>C | |
| 4 | g.41746163C>T | CA356737862 | PHOX2B | c.589G>A (p.Gly197Ser) n.410G>A | |
| 4 | g.41746164C>A | CA439143151 | PHOX2B | c.588G>T (p.Gly196=) n.409G>T | |
| 4 | g.41746164C>G | CA439143152 | PHOX2B | c.588G>C (p.Gly196=) n.409G>C | gnomAD v4 |
| 4 | g.41746164C>T | CA439143154 | PHOX2B | c.588G>A (p.Gly196=) n.409G>A | |
| 4 | g.41746165C>A | CA356737865 | PHOX2B | c.587G>T (p.Gly196Val) n.408G>T | |
| 4 | g.41746165C>G | CA356737868 | PHOX2B | c.587G>C (p.Gly196Ala) n.408G>C | gnomAD v4 |
| 4 | g.41746165C>T | CA356737875 | PHOX2B | c.587G>A (p.Gly196Glu) n.408G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746166C>A | CA356737878 | PHOX2B | c.586G>T (p.Gly196Trp) n.407G>T | |
| 4 | g.41746166C>G | CA356737881 | PHOX2B | c.586G>C (p.Gly196Arg) n.407G>C | |
| 4 | g.41746166C>T | CA356737884 | PHOX2B | c.586G>A (p.Gly196Arg) n.407G>A | ClinVar |
| 4 | g.41746167A>C | CA439143160 | PHOX2B | c.585T>G (p.Thr195=) n.406T>G | |
| 4 | g.41746167A>G | CA439143157 | PHOX2B | c.585T>C (p.Thr195=) n.406T>C | |
| 4 | g.41746167A>T | CA439143158 | PHOX2B | c.585T>A (p.Thr195=) n.406T>A | gnomAD v4 |
| 4 | g.41746168G>A | CA356737889 | PHOX2B | c.584C>T (p.Thr195Ile) n.405C>T | |
| 4 | g.41746168G>C | CA356737885 | PHOX2B | c.584C>G (p.Thr195Ser) n.405C>G | |
| 4 | g.41746168G>T | CA356737887 | PHOX2B | c.584C>A (p.Thr195Asn) n.405C>A | ClinVar |
| 4 | g.41746169T>A | CA356737890 | PHOX2B | c.583A>T (p.Thr195Ser) n.404A>T | |
| 4 | g.41746169T>C | CA356737891 | PHOX2B | c.583A>G (p.Thr195Ala) n.404A>G | |
| 4 | g.41746169T>G | CA356737892 | PHOX2B | c.583A>C (p.Thr195Pro) n.404A>C | |
| 4 | g.41746169_41746175delinsGTGCGGGG | CA2586973822 | PHOX2B | c.577_583delinsCCCCGCAC (p.Asp193ProfsTer?) n.398_404delinsCCCCGCAC | |
| 4 | g.41746170G>A | CA439143162 | PHOX2B | c.582C>T (p.Ser194=) n.403C>T | |
| 4 | g.41746170G>C | CA356737893 | PHOX2B | c.582C>G (p.Ser194Arg) n.403C>G | |
| 4 | g.41746170G>T | CA356737894 | PHOX2B | c.582C>A (p.Ser194Arg) n.403C>A | ClinVar gnomAD v4 |
| 4 | g.41746171C>A | CA356737896 | PHOX2B | c.581G>T (p.Ser194Ile) n.402G>T | |
| 4 | g.41746171C>G | CA356737897 | PHOX2B | c.581G>C (p.Ser194Thr) n.402G>C | |
| 4 | g.41746171C>T | CA356737899 | PHOX2B | c.581G>A (p.Ser194Asn) n.402G>A | ClinVar |
| 4 | g.41746172T>A | CA356737901 | PHOX2B | c.580A>T (p.Ser194Cys) n.401A>T | |
| 4 | g.41746172T>C | CA356737905 | PHOX2B | c.580A>G (p.Ser194Gly) n.401A>G | |
| 4 | g.41746172T>G | CA356737907 | PHOX2B | c.580A>C (p.Ser194Arg) n.401A>C | |
| 4 | g.41746173G>A | CA439143168 | PHOX2B | c.579C>T (p.Asp193=) n.400C>T | ClinVar |
| 4 | g.41746173G>C | CA356737913 | PHOX2B | c.579C>G (p.Asp193Glu) n.400C>G | ClinVar dbSNP |
| 4 | g.41746173G>T | CA356737910 | PHOX2B | c.579C>A (p.Asp193Glu) n.400C>A | ClinVar dbSNP |
| 4 | g.41746174T>A | CA356737916 | PHOX2B | c.578A>T (p.Asp193Val) n.399A>T | |
| 4 | g.41746174T>C | CA356737918 | PHOX2B | c.578A>G (p.Asp193Gly) n.399A>G | |
| 4 | g.41746174T>G | CA356737921 | PHOX2B | c.578A>C (p.Asp193Ala) n.399A>C | |
| 4 | g.41746175C>A | CA356737923 | PHOX2B | c.577G>T (p.Asp193Tyr) n.398G>T | |
| 4 | g.41746175C>G | CA356737926 | PHOX2B | c.577G>C (p.Asp193His) n.398G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746175C>T | CA356737928 | PHOX2B | c.577G>A (p.Asp193Asn) n.398G>A | |
| 4 | g.41746176del | CA2580071014 | PHOX2B | c.577del (p.Asp193ThrfsTer?) n.398del | ClinVar |
| 4 | g.41746176C>A | CA439143174 | PHOX2B | c.576G>T (p.Pro192=) n.397G>T | |
| 4 | g.41746176C>G | CA439143176 | PHOX2B | c.576G>C (p.Pro192=) n.397G>C | |
| 4 | g.41746176C>T | CA439143180 | PHOX2B | c.576G>A (p.Pro192=) n.397G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746177G>A | CA356737935 | PHOX2B | c.575C>T (p.Pro192Leu) n.396C>T | ClinVar dbSNP |
| 4 | g.41746177G>C | CA356737931 | PHOX2B | c.575C>G (p.Pro192Arg) n.396C>G | |
| 4 | g.41746177G>T | CA356737933 | PHOX2B | c.575C>A (p.Pro192Gln) n.396C>A | |
| 4 | g.41746179del | CA2580071015 | PHOX2B | c.575del (p.Pro192ArgfsTer?) n.396del | ClinVar |
| 4 | g.41746178G>A | CA356737936 | PHOX2B | c.574C>T (p.Pro192Ser) n.395C>T | |
| 4 | g.41746178G>C | CA356737937 | PHOX2B | c.574C>G (p.Pro192Ala) n.395C>G | |
| 4 | g.41746178G>T | CA356737939 | PHOX2B | c.574C>A (p.Pro192Thr) n.395C>A | |
| 4 | g.41746179G>A | CA439143185 | PHOX2B | c.573C>T (p.Asp191=) n.394C>T | dbSNP |
| 4 | g.41746179G>C | CA356737941 | PHOX2B | c.573C>G (p.Asp191Glu) n.394C>G | |
| 4 | g.41746179G>T | CA356737942 | PHOX2B | c.573C>A (p.Asp191Glu) n.394C>A | |
| 4 | g.41746180T>A | CA356737943 | PHOX2B | c.572A>T (p.Asp191Val) n.393A>T | |
| 4 | g.41746180T>C | CA356737949 | PHOX2B | c.572A>G (p.Asp191Gly) n.393A>G | |
| 4 | g.41746180T>G | CA356737947 | PHOX2B | c.572A>C (p.Asp191Ala) n.393A>C | |
| 4 | g.41746181C>A | CA356737955 | PHOX2B | c.571G>T (p.Asp191Tyr) n.392G>T | |
| 4 | g.41746181C>G | CA356737958 | PHOX2B | c.571G>C (p.Asp191His) n.392G>C | ClinVar |
| 4 | g.41746181C>T | CA356737960 | PHOX2B | c.571G>A (p.Asp191Asn) n.392G>A | |
| 4 | g.41746182A>C | CA439143197 | PHOX2B | c.570T>G (p.Thr190=) n.391T>G | |
| 4 | g.41746182A>G | CA439143198 | PHOX2B | c.570T>C (p.Thr190=) n.391T>C | ClinVar |
| 4 | g.41746182A>T | CA439143199 | PHOX2B | c.570T>A (p.Thr190=) n.391T>A | |
| 4 | g.41746183G>A | CA356737962 | PHOX2B | c.569C>T (p.Thr190Ile) n.390C>T | ClinVar dbSNP |
| 4 | g.41746183G>C | CA356737963 | PHOX2B | c.569C>G (p.Thr190Ser) n.390C>G | |
| 4 | g.41746183G>T | CA356737967 | PHOX2B | c.569C>A (p.Thr190Asn) n.390C>A | |
| 4 | g.41746184T>A | CA356737970 | PHOX2B | c.568A>T (p.Thr190Ser) n.389A>T | ClinVar |
| 4 | g.41746184T>C | CA356737973 | PHOX2B | c.568A>G (p.Thr190Ala) n.389A>G | dbSNP |
| 4 | g.41746184T>G | CA356737976 | PHOX2B | c.568A>C (p.Thr190Pro) n.389A>C | |
| 4 | g.41746185G>A | CA439143204 | PHOX2B | c.567C>T (p.Ser189=) n.388C>T | |
| 4 | g.41746185G>C | CA356737978 | PHOX2B | c.567C>G (p.Ser189Arg) n.388C>G | ClinVar |
| 4 | g.41746185G>T | CA356737980 | PHOX2B | c.567C>A (p.Ser189Arg) n.388C>A | |
| 4 | g.41746186C>A | CA356737997 | PHOX2B | c.566G>T (p.Ser189Ile) n.387G>T | |
| 4 | g.41746186C>G | CA356737989 | PHOX2B | c.566G>C (p.Ser189Thr) n.387G>C | |
| 4 | g.41746186C>T | CA356737985 | PHOX2B | c.566G>A (p.Ser189Asn) n.387G>A | |
| 4 | g.41746187T>A | CA356738005 | PHOX2B | c.565A>T (p.Ser189Cys) n.386A>T | |
| 4 | g.41746187T>C | CA356738007 | PHOX2B | c.565A>G (p.Ser189Gly) n.386A>G | |
| 4 | g.41746187T>G | CA356738011 | PHOX2B | c.565A>C (p.Ser189Arg) n.386A>C | |
| 4 | g.41746188C>A | CA356738014 | PHOX2B | c.564G>T (p.Lys188Asn) n.385G>T | ClinVar |
| 4 | g.41746188C>G | CA356738025 | PHOX2B | c.564G>C (p.Lys188Asn) n.385G>C | ClinVar dbSNP |
| 4 | g.41746188C>T | CA439143208 | PHOX2B | c.564G>A (p.Lys188=) n.385G>A | ClinVar |
| 4 | g.41746189T>A | CA356738033 | PHOX2B | c.563A>T (p.Lys188Met) n.384A>T | |
| 4 | g.41746189T>C | CA356738030 | PHOX2B | c.563A>G (p.Lys188Arg) n.384A>G | |
| 4 | g.41746189T>G | CA356738028 | PHOX2B | c.563A>C (p.Lys188Thr) n.384A>C | |
| 4 | g.41746190T>A | CA356738044 | PHOX2B | c.562A>T (p.Lys188Ter) n.383A>T | |
| 4 | g.41746190T>C | CA356738047 | PHOX2B | c.562A>G (p.Lys188Glu) n.383A>G | |
| 4 | g.41746190T>G | CA356738051 | PHOX2B | c.562A>C (p.Lys188Gln) n.383A>C | dbSNP |
| 4 | g.41746191G>A | CA439143222 | PHOX2B | c.561C>T (p.Ala187=) n.382C>T | COSMIC |
| 4 | g.41746191G>C | CA439143223 | PHOX2B | c.561C>G (p.Ala187=) n.382C>G | |
| 4 | g.41746191G>T | CA439143224 | PHOX2B | c.561C>A (p.Ala187=) n.382C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746192G>A | CA356738055 | PHOX2B | c.560C>T (p.Ala187Val) n.381C>T | ClinVar dbSNP |
| 4 | g.41746192G>C | CA356738061 | PHOX2B | c.560C>G (p.Ala187Gly) n.381C>G | |
| 4 | g.41746192G>T | CA356738065 | PHOX2B | c.560C>A (p.Ala187Asp) n.381C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746193C>A | CA356738078 | PHOX2B | c.559G>T (p.Ala187Ser) n.380G>T | |
| 4 | g.41746193C>G | CA356738070 | PHOX2B | c.559G>C (p.Ala187Pro) n.380G>C | |
| 4 | g.41746193C>T | CA356738075 | PHOX2B | c.559G>A (p.Ala187Thr) n.380G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746194C>A | CA356738080 | PHOX2B | c.558G>T (p.Glu186Asp) n.379G>T | |
| 4 | g.41746194C>G | CA356738086 | PHOX2B | c.558G>C (p.Glu186Asp) n.379G>C | |
| 4 | g.41746194C>T | CA439143232 | PHOX2B | c.558G>A (p.Glu186=) n.379G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746195T>A | CA356738091 | PHOX2B | c.557A>T (p.Glu186Val) n.378A>T | |
| 4 | g.41746195T>C | CA356738093 | PHOX2B | c.557A>G (p.Glu186Gly) n.378A>G | dbSNP |
| 4 | g.41746195T>G | CA356738100 | PHOX2B | c.557A>C (p.Glu186Ala) n.378A>C | |
| 4 | g.41746196C>A | CA356738103 | PHOX2B | c.556G>T (p.Glu186Ter) n.377G>T | |
| 4 | g.41746196C>G | CA356738109 | PHOX2B | c.556G>C (p.Glu186Gln) n.377G>C | gnomAD v4 |
| 4 | g.41746196C>T | CA356738112 | PHOX2B | c.556G>A (p.Glu186Lys) n.377G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746197T>A | CA356738115 | PHOX2B | c.555A>T (p.Lys185Asn) n.376A>T | |
| 4 | g.41746197T>C | CA439143237 | PHOX2B | c.555A>G (p.Lys185=) n.376A>G | |
| 4 | g.41746197T>G | CA356738117 | PHOX2B | c.555A>C (p.Lys185Asn) n.376A>C | |
| 4 | g.41746198T>A | CA356738121 | PHOX2B | c.554A>T (p.Lys185Ile) n.375A>T | |
| 4 | g.41746198T>C | CA356738124 | PHOX2B | c.554A>G (p.Lys185Arg) n.375A>G | |
| 4 | g.41746198T>G | CA356738127 | PHOX2B | c.554A>C (p.Lys185Thr) n.375A>C | |
| 4 | g.41746199T>A | CA356738129 | PHOX2B | c.553A>T (p.Lys185Ter) n.374A>T | |
| 4 | g.41746199T>C | CA356738139 | PHOX2B | c.553A>G (p.Lys185Glu) n.374A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746199T>G | CA356738136 | PHOX2B | c.553A>C (p.Lys185Gln) n.374A>C | |
| 4 | g.41746200G>A | CA2901479 | PHOX2B | c.552C>T (p.Ser184=) n.373C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746200G>C | CA356738149 | PHOX2B | c.552C>G (p.Ser184Arg) n.373C>G | |
| 4 | g.41746200G= | CA2581415995 | PHOX2B | c.552C= (p.Ser184=) n.373C= | |
| 4 | g.41746200G>T | CA356738153 | PHOX2B | c.552C>A (p.Ser184Arg) n.373C>A | |
| 4 | g.41746201C>A | CA356738157 | PHOX2B | c.551G>T (p.Ser184Ile) n.372G>T | |
| 4 | g.41746201C>G | CA356738161 | PHOX2B | c.551G>C (p.Ser184Thr) n.372G>C | |
| 4 | g.41746201C>T | CA356738164 | PHOX2B | c.551G>A (p.Ser184Asn) n.372G>A | gnomAD v4 |
| 4 | g.41746202T>A | CA356738168 | PHOX2B | c.550A>T (p.Ser184Cys) n.371A>T | |
| 4 | g.41746202T>C | CA356738171 | PHOX2B | c.550A>G (p.Ser184Gly) n.371A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746202T>G | CA356738174 | PHOX2B | c.550A>C (p.Ser184Arg) n.371A>C | |
| 4 | g.41746203C>A | CA356738176 | PHOX2B | c.549G>T (p.Glu183Asp) n.370G>T | |
| 4 | g.41746203C>G | CA356738178 | PHOX2B | c.549G>C (p.Glu183Asp) n.370G>C | gnomAD v4 |
| 4 | g.41746203C>T | CA2901480 | PHOX2B | c.549G>A (p.Glu183=) n.370G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746204T>A | CA356738194 | PHOX2B | c.548A>T (p.Glu183Val) n.369A>T | |
| 4 | g.41746204T>C | CA356738188 | PHOX2B | c.548A>G (p.Glu183Gly) n.369A>G | |
| 4 | g.41746204T>G | CA356738191 | PHOX2B | c.548A>C (p.Glu183Ala) n.369A>C | |
| 4 | g.41746205C>A | CA356738201 | PHOX2B | c.547G>T (p.Glu183Ter) n.368G>T | ClinVar dbSNP |
| 4 | g.41746205C>G | CA356738206 | PHOX2B | c.547G>C (p.Glu183Gln) n.368G>C | |
| 4 | g.41746205C>T | CA356738208 | PHOX2B | c.547G>A (p.Glu183Lys) n.368G>A | ClinVar gnomAD v4 |
| 4 | g.41746206G>A | CA439143269 | PHOX2B | c.546C>T (p.Asp182=) n.367C>T | ClinVar gnomAD v4 |
| 4 | g.41746206G>C | CA356738210 | PHOX2B | c.546C>G (p.Asp182Glu) n.367C>G | |
| 4 | g.41746206G>T | CA356738214 | PHOX2B | c.546C>A (p.Asp182Glu) n.367C>A | ClinVar dbSNP |
| 4 | g.41746207T>A | CA356738216 | PHOX2B | c.545A>T (p.Asp182Val) n.366A>T | |
| 4 | g.41746207T>C | CA356738219 | PHOX2B | c.545A>G (p.Asp182Gly) n.366A>G | ClinVar |
| 4 | g.41746207T>G | CA356738221 | PHOX2B | c.545A>C (p.Asp182Ala) n.366A>C | ClinVar dbSNP COSMIC |
| 4 | g.41746208C>A | CA356738223 | PHOX2B | c.544G>T (p.Asp182Tyr) n.365G>T | dbSNP gnomAD v2 |
| 4 | g.41746208C>G | CA356738224 | PHOX2B | c.544G>C (p.Asp182His) n.365G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746208C>T | CA356738229 | PHOX2B | c.544G>A (p.Asp182Asn) n.365G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.41746209G>A | CA2901481 | PHOX2B | c.543C>T (p.Asp181=) n.364C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746209G>C | CA356738235 | PHOX2B | c.543C>G (p.Asp181Glu) n.364C>G | ClinVar |
| 4 | g.41746209G>T | CA356738234 | PHOX2B | c.543C>A (p.Asp181Glu) n.364C>A | |
| 4 | g.41746210T>A | CA356738238 | PHOX2B | c.542A>T (p.Asp181Val) n.363A>T | |
| 4 | g.41746210T>C | CA356738248 | PHOX2B | c.542A>G (p.Asp181Gly) n.363A>G | |
| 4 | g.41746210T>G | CA356738247 | PHOX2B | c.542A>C (p.Asp181Ala) n.363A>C | |
| 4 | g.41746211C>A | CA356738250 | PHOX2B | c.541G>T (p.Asp181Tyr) n.362G>T | |
| 4 | g.41746211C>G | CA356738255 | PHOX2B | c.541G>C (p.Asp181His) n.362G>C | gnomAD v4 |
| 4 | g.41746211C>T | CA356738253 | PHOX2B | c.541G>A (p.Asp181Asn) n.362G>A | |
| 4 | g.41746212C>A | CA95828601 | PHOX2B | c.540G>T (p.Arg180Ser) n.361G>T | dbSNP |
| 4 | g.41746212C>G | CA95828598 | PHOX2B | c.540G>C (p.Arg180Ser) n.361G>C | dbSNP |
| 4 | g.41746212C>T | CA439143289 | PHOX2B | c.540G>A (p.Arg180=) n.361G>A | gnomAD v4 |
| 4 | g.41746213C>A | CA356738262 | PHOX2B | c.539G>T (p.Arg180Met) n.360G>T | |
| 4 | g.41746213C>G | CA356738264 | PHOX2B | c.539G>C (p.Arg180Thr) n.360G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746213C>T | CA356738267 | PHOX2B | c.539G>A (p.Arg180Lys) n.360G>A | gnomAD v4 |
| 4 | g.41746214T>A | CA356738271 | PHOX2B | c.538A>T (p.Arg180Trp) n.359A>T | ClinVar |
| 4 | g.41746214T>C | CA356738273 | PHOX2B | c.538A>G (p.Arg180Gly) n.359A>G | |
| 4 | g.41746214T>G | CA439143299 | PHOX2B | c.538A>C (p.Arg180=) n.359A>C | |
| 4 | g.41746215G>A | CA439143301 | PHOX2B | c.537C>T (p.Ser179=) n.358C>T | |
| 4 | g.41746215G>C | CA439143304 | PHOX2B | c.537C>G (p.Ser179=) n.358C>G | ClinVar |
| 4 | g.41746215G>T | CA439143303 | PHOX2B | c.537C>A (p.Ser179=) n.358C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746216G>A | CA356738280 | PHOX2B | c.536C>T (p.Ser179Phe) n.357C>T | |
| 4 | g.41746216G>C | CA356738276 | PHOX2B | c.536C>G (p.Ser179Cys) n.357C>G | |
| 4 | g.41746216G>T | CA356738279 | PHOX2B | c.536C>A (p.Ser179Tyr) n.357C>A | |
| 4 | g.41746217A>C | CA356738282 | PHOX2B | c.535T>G (p.Ser179Ala) n.356T>G | |
| 4 | g.41746217A>G | CA356738284 | PHOX2B | c.535T>C (p.Ser179Pro) n.356T>C | |
| 4 | g.41746217A>T | CA356738286 | PHOX2B | c.535T>A (p.Ser179Thr) n.356T>A | |
| 4 | g.41746218A>C | CA439143311 | PHOX2B | c.534T>G (p.Ser178=) n.355T>G | |
| 4 | g.41746218A>G | CA439143312 | PHOX2B | c.534T>C (p.Ser178=) n.355T>C | |
| 4 | g.41746218A>T | CA439143314 | PHOX2B | c.534T>A (p.Ser178=) n.355T>A | dbSNP |
| 4 | g.41746219G>A | CA356738287 | PHOX2B | c.533C>T (p.Ser178Phe) n.354C>T | ClinVar dbSNP |
| 4 | g.41746219G>C | CA356738289 | PHOX2B | c.533C>G (p.Ser178Cys) n.354C>G | |
| 4 | g.41746219G>T | CA356738298 | PHOX2B | c.533C>A (p.Ser178Tyr) n.354C>A | |
| 4 | g.41746220A>C | CA356738300 | PHOX2B | c.532T>G (p.Ser178Ala) n.353T>G | |
| 4 | g.41746220A>G | CA356738304 | PHOX2B | c.532T>C (p.Ser178Pro) n.353T>C | |
| 4 | g.41746220A>T | CA356738302 | PHOX2B | c.532T>A (p.Ser178Thr) n.353T>A | ClinVar dbSNP |
| 4 | g.41746221G>A | CA2901482 | PHOX2B | c.531C>T (p.Asp177=) n.352C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746221G>C | CA356738307 | PHOX2B | c.531C>G (p.Asp177Glu) n.352C>G | |
| 4 | g.41746221G>T | CA356738309 | PHOX2B | c.531C>A (p.Asp177Glu) n.352C>A | |
| 4 | g.41746222T>A | CA356738312 | PHOX2B | c.530A>T (p.Asp177Val) n.351A>T | |
| 4 | g.41746222T>C | CA356738314 | PHOX2B | c.530A>G (p.Asp177Gly) n.351A>G | |
| 4 | g.41746222T>G | CA356738317 | PHOX2B | c.530A>C (p.Asp177Ala) n.351A>C | |
| 4 | g.41746223C>A | CA356738324 | PHOX2B | c.529G>T (p.Asp177Tyr) n.350G>T | |
| 4 | g.41746223C>G | CA356738326 | PHOX2B | c.529G>C (p.Asp177His) n.350G>C | |
| 4 | g.41746223C>T | CA356738328 | PHOX2B | c.529G>A (p.Asp177Asn) n.350G>A | |
| 4 | g.41746224A>C | CA439143326 | PHOX2B | c.528T>G (p.Ser176=) n.349T>G | |
| 4 | g.41746224A>G | CA439143327 | PHOX2B | c.528T>C (p.Ser176=) n.349T>C | dbSNP |
| 4 | g.41746224A>T | CA439143330 | PHOX2B | c.528T>A (p.Ser176=) n.349T>A | |
| 4 | g.41746225G>A | CA356738331 | PHOX2B | c.527C>T (p.Ser176Phe) n.348C>T | ClinVar |
| 4 | g.41746225G>C | CA356738334 | PHOX2B | c.527C>G (p.Ser176Cys) n.348C>G | gnomAD v4 |
| 4 | g.41746225G>T | CA356738337 | PHOX2B | c.527C>A (p.Ser176Tyr) n.348C>A | |
| 4 | g.41746226A>C | CA356738340 | PHOX2B | c.526T>G (p.Ser176Ala) n.347T>G | gnomAD v4 |
| 4 | g.41746226A>G | CA356738345 | PHOX2B | c.526T>C (p.Ser176Pro) n.347T>C | |
| 4 | g.41746226A>T | CA356738342 | PHOX2B | c.526T>A (p.Ser176Thr) n.347T>A | |
| 4 | g.41746227C>A | CA356738349 | PHOX2B | c.525G>T (p.Lys175Asn) n.346G>T | |
| 4 | g.41746227C>G | CA356738351 | PHOX2B | c.525G>C (p.Lys175Asn) n.346G>C | |
| 4 | g.41746227C>T | CA439143341 | PHOX2B | c.525G>A (p.Lys175=) n.346G>A | COSMIC |
| 4 | g.41746228T>A | CA16611448 | PHOX2B | c.524A>T (p.Lys175Met) n.345A>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746228T>C | CA356738355 | PHOX2B | c.524A>G (p.Lys175Arg) n.345A>G | ClinVar dbSNP |
| 4 | g.41746228T>G | CA356738356 | PHOX2B | c.524A>C (p.Lys175Thr) n.345A>C | |
| 4 | g.41746232del | CA2543768500 | PHOX2B | c.524del (p.Lys175SerfsTer?) n.345del | |
| 4 | g.41746229T>A | CA356738359 | PHOX2B | c.523A>T (p.Lys175Ter) n.344A>T | |
| 4 | g.41746229T>C | CA356738362 | PHOX2B | c.523A>G (p.Lys175Glu) n.344A>G | |
| 4 | g.41746229T>G | CA356738365 | PHOX2B | c.523A>C (p.Lys175Gln) n.344A>C | ClinVar |
| 4 | g.41746230T>A | CA356738368 | PHOX2B | c.522A>T (p.Lys174Asn) n.343A>T | |
| 4 | g.41746230T>C | CA439143351 | PHOX2B | c.522A>G (p.Lys174=) n.343A>G | ClinVar |
| 4 | g.41746230T>G | CA356738371 | PHOX2B | c.522A>C (p.Lys174Asn) n.343A>C | |
| 4 | g.41746231T>A | CA356738374 | PHOX2B | c.521A>T (p.Lys174Ile) n.342A>T | |
| 4 | g.41746231T>C | CA356738379 | PHOX2B | c.521A>G (p.Lys174Arg) n.342A>G | |
| 4 | g.41746231T>G | CA356738381 | PHOX2B | c.521A>C (p.Lys174Thr) n.342A>C | |
| 4 | g.41746232T>A | CA356738387 | PHOX2B | c.520A>T (p.Lys174Ter) n.341A>T | |
| 4 | g.41746232T>C | CA356738384 | PHOX2B | c.520A>G (p.Lys174Glu) n.341A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746232T>G | CA356738385 | PHOX2B | c.520A>C (p.Lys174Gln) n.341A>C | |
| 4 | g.41746233del | CA2586973823 | PHOX2B | c.519del (p.Lys175SerfsTer?) n.340del | |
| 4 | g.41746233G>A | CA439143359 | PHOX2B | c.519C>T (p.Gly173=) n.340C>T | dbSNP |
| 4 | g.41746233G>C | CA439143360 | PHOX2B | c.519C>G (p.Gly173=) n.340C>G | |
| 4 | g.41746233G>T | CA439143362 | PHOX2B | c.519C>A (p.Gly173=) n.340C>A | dbSNP |
| 4 | g.41746234C>A | CA356738388 | PHOX2B | c.518G>T (p.Gly173Val) n.339G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746234C>G | CA356738391 | PHOX2B | c.518G>C (p.Gly173Ala) n.339G>C | |
| 4 | g.41746234C>T | CA95828608 | PHOX2B | c.518G>A (p.Gly173Asp) n.339G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746235C>A | CA356738395 | PHOX2B | c.517G>T (p.Gly173Cys) n.338G>T | |
| 4 | g.41746235C>G | CA356738398 | PHOX2B | c.517G>C (p.Gly173Arg) n.338G>C | dbSNP |
| 4 | g.41746235C>T | CA356738400 | PHOX2B | c.517G>A (p.Gly173Ser) n.338G>A | ClinVar |
| 4 | g.41746236C>A | CA439143377 | PHOX2B | c.516G>T (p.Ser172=) n.337G>T | ClinVar dbSNP |
| 4 | g.41746236C>G | CA439143376 | PHOX2B | c.516G>C (p.Ser172=) n.337G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746236C>T | CA439143370 | PHOX2B | c.516G>A (p.Ser172=) n.337G>A | |
| 4 | g.41746237G>A | CA356738403 | PHOX2B | c.515C>T (p.Ser172Leu) n.336C>T | ClinVar dbSNP |
| 4 | g.41746237G>C | CA356738406 | PHOX2B | c.515C>G (p.Ser172Trp) n.336C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746237G>T | CA356738408 | PHOX2B | c.515C>A (p.Ser172Ter) n.336C>A | |
| 4 | g.41746238A>C | CA356738411 | PHOX2B | c.514T>G (p.Ser172Ala) n.335T>G | |
| 4 | g.41746238A>G | CA2901483 | PHOX2B | c.514T>C (p.Ser172Pro) n.335T>C | dbSNP ExAC gnomAD v2 |
| 4 | g.41746238A>T | CA356738417 | PHOX2B | c.514T>A (p.Ser172Thr) n.335T>A | |
| 4 | g.41746239G>A | CA439143385 | PHOX2B | c.513C>T (p.Ser171=) n.334C>T | ClinVar |
| 4 | g.41746239G>C | CA439143383 | PHOX2B | c.513C>G (p.Ser171=) n.334C>G | |
| 4 | g.41746239G>T | CA439143382 | PHOX2B | c.513C>A (p.Ser171=) n.334C>A | COSMIC |
| 4 | g.41746240G>A | CA356738419 | PHOX2B | c.512C>T (p.Ser171Phe) n.333C>T | ClinVar dbSNP |
| 4 | g.41746240G>C | CA356738424 | PHOX2B | c.512C>G (p.Ser171Cys) n.333C>G | ClinVar dbSNP |
| 4 | g.41746240G>T | CA356738420 | PHOX2B | c.512C>A (p.Ser171Tyr) n.333C>A | gnomAD v4 |
| 4 | g.41746241A>C | CA356738427 | PHOX2B | c.511T>G (p.Ser171Ala) n.332T>G | |
| 4 | g.41746241A>G | CA356738430 | PHOX2B | c.511T>C (p.Ser171Pro) n.332T>C | ClinVar dbSNP |
| 4 | g.41746241A>T | CA356738428 | PHOX2B | c.511T>A (p.Ser171Thr) n.332T>A | |
| 4 | g.41746242G>A | CA439143400 | PHOX2B | c.510C>T (p.Gly170=) n.331C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746242G>C | CA439143404 | PHOX2B | c.510C>G (p.Gly170=) n.331C>G | |
| 4 | g.41746242G>T | CA439143401 | PHOX2B | c.510C>A (p.Gly170=) n.331C>A | |
| 4 | g.41746243C>A | CA356738432 | PHOX2B | c.509G>T (p.Gly170Val) n.330G>T | ClinVar |
| 4 | g.41746243C>G | CA356738435 | PHOX2B | c.509G>C (p.Gly170Ala) n.330G>C | |
| 4 | g.41746243C>T | CA356738436 | PHOX2B | c.509G>A (p.Gly170Asp) n.330G>A | ClinVar gnomAD v4 |
| 4 | g.41746244C>A | CA356738439 | PHOX2B | c.508G>T (p.Gly170Cys) n.329G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746244C>G | CA2901484 | PHOX2B | c.508G>C (p.Gly170Arg) n.329G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746244C>T | CA356738444 | PHOX2B | c.508G>A (p.Gly170Ser) n.329G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746245G>A | CA439143417 | PHOX2B | c.507C>T (p.Asn169=) n.328C>T | ClinVar gnomAD v4 |
| 4 | g.41746245G>C | CA356738449 | PHOX2B | c.507C>G (p.Asn169Lys) n.328C>G | |
| 4 | g.41746245G>T | CA356738452 | PHOX2B | c.507C>A (p.Asn169Lys) n.328C>A | ClinVar dbSNP |
| 4 | g.41746246T>A | CA356738456 | PHOX2B | c.506A>T (p.Asn169Ile) n.327A>T | |
| 4 | g.41746246T>C | CA356738458 | PHOX2B | c.506A>G (p.Asn169Ser) n.327A>G | |
| 4 | g.41746246T>G | CA356738461 | PHOX2B | c.506A>C (p.Asn169Thr) n.327A>C | |
| 4 | g.41746247T>A | CA356738469 | PHOX2B | c.505A>T (p.Asn169Tyr) n.326A>T | |
| 4 | g.41746247T>C | CA356738466 | PHOX2B | c.505A>G (p.Asn169Asp) n.326A>G | COSMIC |
| 4 | g.41746247T>G | CA356738467 | PHOX2B | c.505A>C (p.Asn169His) n.326A>C | |
| 4 | g.41746248C>A | CA356738473 | PHOX2B | c.504G>T (p.Lys168Asn) n.325G>T | |
| 4 | g.41746248C>G | CA356738476 | PHOX2B | c.504G>C (p.Lys168Asn) n.325G>C | |
| 4 | g.41746248C>T | CA95828617 | PHOX2B | c.504G>A (p.Lys168=) n.325G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.41746249T>A | CA356738478 | PHOX2B | c.503A>T (p.Lys168Met) n.324A>T | |
| 4 | g.41746249T>C | CA2901485 | PHOX2B | c.503A>G (p.Lys168Arg) n.324A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746249T>G | CA356738483 | PHOX2B | c.503A>C (p.Lys168Thr) n.324A>C | |
| 4 | g.41746250T>A | CA356738486 | PHOX2B | c.502A>T (p.Lys168Ter) n.323A>T | |
| 4 | g.41746250T>C | CA356738488 | PHOX2B | c.502A>G (p.Lys168Glu) n.323A>G | gnomAD v4 |
| 4 | g.41746250T>G | CA356738492 | PHOX2B | c.502A>C (p.Lys168Gln) n.323A>C | |
| 4 | g.41746251G>A | CA439143441 | PHOX2B | c.501C>T (p.Ala167=) n.322C>T | |
| 4 | g.41746251G>C | CA439143442 | PHOX2B | c.501C>G (p.Ala167=) n.322C>G | gnomAD v4 |
| 4 | g.41746251G>T | CA439143443 | PHOX2B | c.501C>A (p.Ala167=) n.322C>A | dbSNP |
| 4 | g.41746257_41746262dup | CA2497074311 | PHOX2B | c.496_501dup (p.Ala167_Lys168insAlaAla) n.317_322dup | ClinVar dbSNP |
| 4 | g.41746251_41746268dup | CA2573137671 | PHOX2B | c.484_501dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.305_322dup | ClinVar dbSNP |
| 4 | g.41746252G>A | CA356738495 | PHOX2B | c.500C>T (p.Ala167Val) n.321C>T | ClinVar |
| 4 | g.41746252G>C | CA356738498 | PHOX2B | c.500C>G (p.Ala167Gly) n.321C>G | |
| 4 | g.41746252G>T | CA356738501 | PHOX2B | c.500C>A (p.Ala167Asp) n.321C>A | |
| 4 | g.41746257_41746274dup | CA658780103 | PHOX2B | c.483_500dup (p.Ala167_Lys168insAlaAlaAlaAlaAlaAla) n.304_321dup | dbSNP gnomAD v4 |