| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.41745987_41746028del | CA2670427143 | PHOX2B | c.729_770del (p.Ala244_Ala257del) | gnomAD v4 |
| 4 | g.41745993_41746028dup | CA2580071002 | PHOX2B | c.729_764dup (p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) | ClinVar |
| 4 | g.41745993_41746028del | CA2497074302 | PHOX2B | c.729_764del (p.Ala244_Ala255del) | ClinVar dbSNP gnomAD v4 |
| 4 | g.41745993_41746031dup | CA2580071003 | PHOX2B | c.726_764dup (p.Ala255_Ala256insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) | ClinVar |
| 4 | g.41745993_41746031del | CA2901437 | PHOX2B | c.726_764del (p.Ala243_Ala255del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746000_41746037dup | CA2580071005 | PHOX2B | c.722_759dup (p.Ala254GlnfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746000_41746037del | CA1139658465 | PHOX2B | c.722_759del (p.Ala241GlyfsTer?) | ClinVar dbSNP |
| 4 | g.41746003_41746037del | CA645526518 | PHOX2B | c.722_756del (p.Ala241GlyfsTer?) | COSMIC |
| 4 | g.41746008_41746028dup | CA658796423 | PHOX2B | c.729_749dup (p.Ala250_Ala251insAlaAlaAlaAlaAlaAlaAla) | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746008_41746028del | CA2901445 | PHOX2B | c.729_749del (p.Ala244_Ala250del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746010_41746044del | CA2586973797 | PHOX2B | c.713_747del (p.Lys238SerfsTer?) | |
| 4 | g.41746011_41746028dup | CA2573052329 | PHOX2B | c.726_743dup (p.Ala248_Ala249insAlaAlaAlaAlaAlaAla) | ClinVar dbSNP |
| 4 | g.41746011_41746028del | CA1061554672 | PHOX2B | c.726_743del (p.Ala243_Ala248del) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746012_41746032del | CA16611540 | PHOX2B | c.723_743del (p.Ala242_Ala248del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746014_41746031del | CA2670427156 | PHOX2B | c.723_740del (p.Ala242_Ala247del) | gnomAD v4 |
| 4 | g.41746018_41746037del | CA645526519 | PHOX2B | c.721_740del (p.Ala241ArgfsTer?) | gnomAD v4 COSMIC |
| 4 | g.41746015_41746037del | CA2670427155 | PHOX2B | c.718_740del (p.Gly240ArgfsTer?) | gnomAD v4 |
| 4 | g.41746014_41746034dup | CA2580071009 | PHOX2B | c.719_739dup (p.Ala246_Ala247insGlyAlaAlaAlaAlaAlaAla) | ClinVar |
| 4 | g.41746014_41746034del | CA2670427160 | PHOX2B | c.719_739del (p.Gly240_Ala246del) | gnomAD v4 |
| 4 | g.41746021_41746037dup | CA2586973798 | PHOX2B | c.722_738dup (p.Ala247GlnfsTer?) | |
| 4 | g.41746021_41746037del | CA2586973799 | PHOX2B | c.722_738del (p.Ala241GlyfsTer?) | gnomAD v4 |
| 4 | g.41746029_41746031dup | CA2670427162 | PHOX2B | c.729_731dup (p.Ala244_Ala245insAla) | gnomAD v4 |
| 4 | g.41746029_41746031del | CA2670427161 | PHOX2B | c.729_731del (p.Ala244del) | gnomAD v4 |
| 4 | g.41746023_41746081del | CA2695199371 | PHOX2B | c.671_729del (p.Pro224ArgfsTer?) | ClinVar |
| 4 | g.41746026T>A | CA439143105 | PHOX2B | c.726A>T (p.Ala242=) | ClinVar |
| 4 | g.41746026T>C | CA2901452 | PHOX2B | c.726A>G (p.Ala242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746026T>G | CA439143103 | PHOX2B | c.726A>C (p.Ala242=) | ClinVar dbSNP |
| 4 | g.41746027G>A | CA356737255 | PHOX2B | c.725C>T (p.Ala242Val) | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746027G>C | CA356737256 | PHOX2B | c.725C>G (p.Ala242Gly) | gnomAD v4 |
| 4 | g.41746027G>T | CA356737258 | PHOX2B | c.725C>A (p.Ala242Glu) | gnomAD v4 |
| 4 | g.41746028C>A | CA356737262 | PHOX2B | c.724G>T (p.Ala242Ser) | gnomAD v4 |
| 4 | g.41746028C>G | CA356737263 | PHOX2B | c.724G>C (p.Ala242Pro) | gnomAD v4 |
| 4 | g.41746028C>T | CA356737260 | PHOX2B | c.724G>A (p.Ala242Thr) | gnomAD v4 |
| 4 | g.41746029T>A | CA439143114 | PHOX2B | c.723A>T (p.Ala241=) | ClinVar |
| 4 | g.41746029T>C | CA439143113 | PHOX2B | c.723A>G (p.Ala241=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746029T>G | CA439143112 | PHOX2B | c.723A>C (p.Ala241=) | ClinVar |
| 4 | g.41746029_41746030del | CA2670427163 | PHOX2B | c.722_723del (p.Ala241GlyfsTer?) | gnomAD v4 |
| 4 | g.41746030del | CA913189174 | PHOX2B | c.722del (p.Ala241GlufsTer?) | |
| 4 | g.41746030G>A | CA356737266 | PHOX2B | c.722C>T (p.Ala241Val) | gnomAD v4 |
| 4 | g.41746030G>C | CA356737268 | PHOX2B | c.722C>G (p.Ala241Gly) | |
| 4 | g.41746030G>T | CA356737269 | PHOX2B | c.722C>A (p.Ala241Glu) | gnomAD v4 |
| 4 | g.41746031C>A | CA356737271 | PHOX2B | c.721G>T (p.Ala241Ser) | gnomAD v4 |
| 4 | g.41746031C>G | CA356737273 | PHOX2B | c.721G>C (p.Ala241Pro) | ClinVar gnomAD v4 |
| 4 | g.41746031C>T | CA356737275 | PHOX2B | c.721G>A (p.Ala241Thr) | ClinVar gnomAD v4 |
| 4 | g.41746032G>A | CA439143123 | PHOX2B | c.720C>T (p.Gly240=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746032G>C | CA439143125 | PHOX2B | c.720C>G (p.Gly240=) | gnomAD v4 |
| 4 | g.41746032G>T | CA439143124 | PHOX2B | c.720C>A (p.Gly240=) | gnomAD v4 |
| 4 | g.41746033C>A | CA356737277 | PHOX2B | c.719G>T (p.Gly240Val) n.540G>T | gnomAD v4 |
| 4 | g.41746033C>G | CA356737279 | PHOX2B | c.719G>C (p.Gly240Ala) n.540G>C | |
| 4 | g.41746033C>T | CA16611433 | PHOX2B | c.719G>A (p.Gly240Asp) n.540G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746034C>A | CA356737280 | PHOX2B | c.718G>T (p.Gly240Cys) n.539G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746034C>G | CA356737281 | PHOX2B | c.718G>C (p.Gly240Arg) n.539G>C | ClinVar gnomAD v4 |
| 4 | g.41746034C>T | CA356737283 | PHOX2B | c.718G>A (p.Gly240Ser) n.539G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746035G>A | CA439143130 | PHOX2B | c.717C>T (p.Gly239=) n.538C>T | ClinVar gnomAD v4 |
| 4 | g.41746035G>C | CA439143132 | PHOX2B | c.717C>G (p.Gly239=) n.538C>G | ClinVar |
| 4 | g.41746035G>T | CA439143135 | PHOX2B | c.717C>A (p.Gly239=) n.538C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746036C>A | CA356737286 | PHOX2B | c.716G>T (p.Gly239Val) n.537G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746036C>G | CA356737288 | PHOX2B | c.716G>C (p.Gly239Ala) n.537G>C | |
| 4 | g.41746036C>T | CA356737285 | PHOX2B | c.716G>A (p.Gly239Asp) n.537G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746037C>A | CA356737289 | PHOX2B | c.715G>T (p.Gly239Cys) n.536G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746037C>G | CA356737290 | PHOX2B | c.715G>C (p.Gly239Arg) n.536G>C | gnomAD v4 |
| 4 | g.41746037C>T | CA356737292 | PHOX2B | c.715G>A (p.Gly239Ser) n.536G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746038C>A | CA356737294 | PHOX2B | c.714G>T (p.Lys238Asn) n.535G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746038C>G | CA356737295 | PHOX2B | c.714G>C (p.Lys238Asn) n.535G>C | |
| 4 | g.41746038C>T | CA439143144 | PHOX2B | c.714G>A (p.Lys238=) n.535G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746039_41746051dup | CA645526520 | PHOX2B | c.702_714dup (p.Gly239ArgfsTer?) n.523_535dup | ClinVar COSMIC |
| 4 | g.41746039T>A | CA356737301 | PHOX2B | c.713A>T (p.Lys238Met) n.534A>T | gnomAD v4 |
| 4 | g.41746039T>C | CA356737297 | PHOX2B | c.713A>G (p.Lys238Arg) n.534A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746039T>G | CA356737299 | PHOX2B | c.713A>C (p.Lys238Thr) n.534A>C | |
| 4 | g.41746040T>A | CA356737303 | PHOX2B | c.712A>T (p.Lys238Ter) n.533A>T | ClinVar |
| 4 | g.41746040T>C | CA356737304 | PHOX2B | c.712A>G (p.Lys238Glu) n.533A>G | gnomAD v4 |
| 4 | g.41746040T>G | CA356737307 | PHOX2B | c.712A>C (p.Lys238Gln) n.533A>C | ClinVar |
| 4 | g.41746041G>A | CA439142846 | PHOX2B | c.711C>T (p.Gly237=) n.532C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746041G>C | CA439142847 | PHOX2B | c.711C>G (p.Gly237=) n.532C>G | ClinVar |
| 4 | g.41746041G>T | CA439142849 | PHOX2B | c.711C>A (p.Gly237=) n.532C>A | gnomAD v4 |
| 4 | g.41746047_41746095del | CA2586973800 | PHOX2B | c.663_711del (p.Gly222ArgfsTer?) n.484_532del | |
| 4 | g.41746041_41746042insTCTCTTATA | CA2670427165 | PHOX2B | c.710_711insTATAAGAGA (p.Gly237_Lys238insIleArgAsp) n.531_532insTATAAGAGA | gnomAD v4 |
| 4 | g.41746041_41746042insTCTCTTATACA | CA2670427164 | PHOX2B | c.710_711insTGTATAAGAGA (p.Lys238ValfsTer2) n.531_532insTGTATAAGAGA | gnomAD v4 |
| 4 | g.41746042C>A | CA356737308 | PHOX2B | c.710G>T (p.Gly237Val) n.531G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746042C>G | CA356737310 | PHOX2B | c.710G>C (p.Gly237Ala) n.531G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746042C>T | CA356737311 | PHOX2B | c.710G>A (p.Gly237Asp) n.531G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746043del | CA2586973802 | PHOX2B | c.710del (p.Gly237AlafsTer?) n.531del | |
| 4 | g.41746043C>A | CA356737317 | PHOX2B | c.709G>T (p.Gly237Cys) n.530G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746043C>G | CA356737316 | PHOX2B | c.709G>C (p.Gly237Arg) n.530G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746043C>T | CA356737314 | PHOX2B | c.709G>A (p.Gly237Ser) n.530G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746044G>A | CA95828493 | PHOX2B | c.708C>T (p.Pro236=) n.529C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746044G>C | CA439142854 | PHOX2B | c.708C>G (p.Pro236=) n.529C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746044G>T | CA439142855 | PHOX2B | c.708C>A (p.Pro236=) n.529C>A | gnomAD v4 |
| 4 | g.41746045_41746046del | CA2586973803 | PHOX2B | c.707_708del (p.Pro236ArgfsTer?) n.528_529del | |
| 4 | g.41746044_41746059dup | CA2586973804 | PHOX2B | c.693_708dup (p.Gly237ProfsTer?) n.514_529dup | |
| 4 | g.41746045G>A | CA356737318 | PHOX2B | c.707C>T (p.Pro236Leu) n.528C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.41746045G>C | CA356737320 | PHOX2B | c.707C>G (p.Pro236Arg) n.528C>G | |
| 4 | g.41746045G>T | CA356737321 | PHOX2B | c.707C>A (p.Pro236His) n.528C>A | gnomAD v4 |
| 4 | g.41746045_41746046insT | CA2761184303 | PHOX2B | c.706_707insA (p.Pro236HisfsTer?) n.527_528insA | |
| 4 | g.41746046G>A | CA356737323 | PHOX2B | c.706C>T (p.Pro236Ser) n.527C>T | dbSNP gnomAD v4 |
| 4 | g.41746046G>C | CA356737325 | PHOX2B | c.706C>G (p.Pro236Ala) n.527C>G | |
| 4 | g.41746046G>T | CA356737326 | PHOX2B | c.706C>A (p.Pro236Thr) n.527C>A | gnomAD v4 |
| 4 | g.41746046_41746053del | CA2586973805 | PHOX2B | c.699_706del (p.Gly234ArgfsTer?) n.520_527del | |
| 4 | g.41746047T>A | CA356737330 | PHOX2B | c.705A>T (p.Glu235Asp) n.526A>T | |
| 4 | g.41746047T>C | CA439142859 | PHOX2B | c.705A>G (p.Glu235=) n.526A>G | ClinVar gnomAD v4 |
| 4 | g.41746047T>G | CA356737328 | PHOX2B | c.705A>C (p.Glu235Asp) n.526A>C | |
| 4 | g.41746048T>A | CA356737332 | PHOX2B | c.704A>T (p.Glu235Val) n.525A>T | |
| 4 | g.41746048T>C | CA356737333 | PHOX2B | c.704A>G (p.Glu235Gly) n.525A>G | gnomAD v4 |
| 4 | g.41746048T>G | CA356737335 | PHOX2B | c.704A>C (p.Glu235Ala) n.525A>C | |
| 4 | g.41746049C>A | CA356737336 | PHOX2B | c.703G>T (p.Glu235Ter) n.524G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746049C>G | CA356737338 | PHOX2B | c.703G>C (p.Glu235Gln) n.524G>C | ClinVar |
| 4 | g.41746049C>T | CA356737339 | PHOX2B | c.703G>A (p.Glu235Lys) n.524G>A | gnomAD v4 |
| 4 | g.41746050G>A | CA439142862 | PHOX2B | c.702C>T (p.Gly234=) n.523C>T | ClinVar gnomAD v4 |
| 4 | g.41746050G>C | CA439142863 | PHOX2B | c.702C>G (p.Gly234=) n.523C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746050G>T | CA439142864 | PHOX2B | c.702C>A (p.Gly234=) n.523C>A | ClinVar gnomAD v4 |
| 4 | g.41746051C>A | CA356737341 | PHOX2B | c.701G>T (p.Gly234Val) n.522G>T | gnomAD v4 |
| 4 | g.41746051C>G | CA356737344 | PHOX2B | c.701G>C (p.Gly234Ala) n.522G>C | |
| 4 | g.41746051C>T | CA356737343 | PHOX2B | c.701G>A (p.Gly234Asp) n.522G>A | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746052C>A | CA356737347 | PHOX2B | c.700G>T (p.Gly234Cys) n.521G>T | gnomAD v4 |
| 4 | g.41746052C>G | CA356737349 | PHOX2B | c.700G>C (p.Gly234Arg) n.521G>C | |
| 4 | g.41746052C>T | CA356737350 | PHOX2B | c.700G>A (p.Gly234Ser) n.521G>A | ClinVar dbSNP gnomAD v2 |
| 4 | g.41746053_41746060del | CA2586973806 | PHOX2B | c.693_700del (p.Pro232ArgfsTer?) n.514_521del | |
| 4 | g.41746053T>A | CA439142870 | PHOX2B | c.699A>T (p.Gly233=) n.520A>T | gnomAD v4 |
| 4 | g.41746053T>C | CA439142872 | PHOX2B | c.699A>G (p.Gly233=) n.520A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746053T>G | CA439142873 | PHOX2B | c.699A>C (p.Gly233=) n.520A>C | |
| 4 | g.41746054C>A | CA356737352 | PHOX2B | c.698G>T (p.Gly233Val) n.519G>T | gnomAD v4 |
| 4 | g.41746054C>G | CA356737354 | PHOX2B | c.698G>C (p.Gly233Ala) n.519G>C | ClinVar |
| 4 | g.41746054C>T | CA356737356 | PHOX2B | c.698G>A (p.Gly233Glu) n.519G>A | gnomAD v4 |
| 4 | g.41746056del | CA2670427166 | PHOX2B | c.698del (p.Gly233GlufsTer?) n.519del | gnomAD v4 |
| 4 | g.41746064_41746071dup | CA913189175 | PHOX2B | c.691_698dup (p.Gly234AlafsTer?) n.512_519dup | ClinVar dbSNP |
| 4 | g.41746064_41746071del | CA2580616090 | PHOX2B | c.691_698del (p.Gly231ArgfsTer?) n.512_519del | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746055C>A | CA356737357 | PHOX2B | c.697G>T (p.Gly233Ter) n.518G>T | gnomAD v4 |
| 4 | g.41746055C>G | CA356737358 | PHOX2B | c.697G>C (p.Gly233Arg) n.518G>C | |
| 4 | g.41746055C>T | CA356737360 | PHOX2B | c.697G>A (p.Gly233Arg) n.518G>A | gnomAD v4 |
| 4 | g.41746056C>A | CA439142877 | PHOX2B | c.696G>T (p.Pro232=) n.517G>T | ClinVar gnomAD v4 |
| 4 | g.41746056C>G | CA439142878 | PHOX2B | c.696G>C (p.Pro232=) n.517G>C | ClinVar gnomAD v4 |
| 4 | g.41746056C>T | CA439142879 | PHOX2B | c.696G>A (p.Pro232=) n.517G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746057G>A | CA356737362 | PHOX2B | c.695C>T (p.Pro232Leu) n.516C>T | ClinVar gnomAD v4 |
| 4 | g.41746057G>C | CA356737364 | PHOX2B | c.695C>G (p.Pro232Arg) n.516C>G | ClinVar gnomAD v4 |
| 4 | g.41746057G>T | CA356737365 | PHOX2B | c.695C>A (p.Pro232Gln) n.516C>A | gnomAD v4 |
| 4 | g.41746059del | CA2670427167 | PHOX2B | c.695del (p.Pro232ArgfsTer?) n.516del | gnomAD v4 |
| 4 | g.41746058G>A | CA356737371 | PHOX2B | c.694C>T (p.Pro232Ser) n.515C>T | gnomAD v4 |
| 4 | g.41746058G>C | CA356737368 | PHOX2B | c.694C>G (p.Pro232Ala) n.515C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.41746058G>T | CA356737369 | PHOX2B | c.694C>A (p.Pro232Thr) n.515C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746059G>A | CA439142884 | PHOX2B | c.693C>T (p.Gly231=) n.514C>T | ClinVar gnomAD v4 |
| 4 | g.41746059G>C | CA439142885 | PHOX2B | c.693C>G (p.Gly231=) n.514C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746059G>T | CA439142886 | PHOX2B | c.693C>A (p.Gly231=) n.514C>A | gnomAD v4 |
| 4 | g.41746067_41746082dup | CA2586973808 | PHOX2B | c.678_693dup (p.Pro232GlyfsTer?) n.499_514dup | |
| 4 | g.41746060C>A | CA356737372 | PHOX2B | c.692G>T (p.Gly231Val) n.513G>T | gnomAD v4 |
| 4 | g.41746060C>G | CA356737374 | PHOX2B | c.692G>C (p.Gly231Ala) n.513G>C | gnomAD v4 |
| 4 | g.41746060C>T | CA95828497 | PHOX2B | c.692G>A (p.Gly231Asp) n.513G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746064dup | CA2508085610 | PHOX2B | c.692dup (p.Gly234ArgfsTer?) n.513dup | gnomAD v4 |
| 4 | g.41746064del | CA551141139 | PHOX2B | c.692del (p.Gly231AlafsTer?) n.513del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746061C>A | CA356737377 | PHOX2B | c.691G>T (p.Gly231Cys) n.512G>T | gnomAD v4 |
| 4 | g.41746061C>G | CA356737378 | PHOX2B | c.691G>C (p.Gly231Arg) n.512G>C | gnomAD v4 |
| 4 | g.41746061C>T | CA356737380 | PHOX2B | c.691G>A (p.Gly231Ser) n.512G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746062C>A | CA439142889 | PHOX2B | c.690G>T (p.Gly230=) n.511G>T | gnomAD v4 |
| 4 | g.41746062C>G | CA439142891 | PHOX2B | c.690G>C (p.Gly230=) n.511G>C | |
| 4 | g.41746062C>T | CA439142892 | PHOX2B | c.690G>A (p.Gly230=) n.511G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746063C>A | CA356737382 | PHOX2B | c.689G>T (p.Gly230Val) n.510G>T | |
| 4 | g.41746063C>G | CA356737383 | PHOX2B | c.689G>C (p.Gly230Ala) n.510G>C | ClinVar dbSNP |
| 4 | g.41746063C>T | CA356737385 | PHOX2B | c.689G>A (p.Gly230Glu) n.510G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746064C>A | CA356737387 | PHOX2B | c.688G>T (p.Gly230Trp) n.509G>T | gnomAD v4 |
| 4 | g.41746064C>G | CA356737389 | PHOX2B | c.688G>C (p.Gly230Arg) n.509G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746064C>T | CA356737391 | PHOX2B | c.688G>A (p.Gly230Arg) n.509G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746065G>A | CA439142897 | PHOX2B | c.687C>T (p.Pro229=) n.508C>T | gnomAD v4 COSMIC |
| 4 | g.41746065G>C | CA439142898 | PHOX2B | c.687C>G (p.Pro229=) n.508C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746065G>T | CA439142899 | PHOX2B | c.687C>A (p.Pro229=) n.508C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746067del | CA2670427168 | PHOX2B | c.687del (p.Gly231AlafsTer?) n.508del | gnomAD v4 |
| 4 | g.41746066G>A | CA356737396 | PHOX2B | c.686C>T (p.Pro229Leu) n.507C>T | gnomAD v4 |
| 4 | g.41746066G>C | CA356737395 | PHOX2B | c.686C>G (p.Pro229Arg) n.507C>G | |
| 4 | g.41746066G>T | CA356737393 | PHOX2B | c.686C>A (p.Pro229His) n.507C>A | gnomAD v4 |
| 4 | g.41746067G>A | CA356737398 | PHOX2B | c.685C>T (p.Pro229Ser) n.506C>T | ClinVar gnomAD v4 |
| 4 | g.41746067G>C | CA356737399 | PHOX2B | c.685C>G (p.Pro229Ala) n.506C>G | gnomAD v4 |
| 4 | g.41746067G>T | CA356737401 | PHOX2B | c.685C>A (p.Pro229Thr) n.506C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746068C>A | CA439142907 | PHOX2B | c.684G>T (p.Gly228=) n.505G>T | gnomAD v4 |
| 4 | g.41746068C>G | CA439142906 | PHOX2B | c.684G>C (p.Gly228=) n.505G>C | gnomAD v4 |
| 4 | g.41746068C>T | CA439142904 | PHOX2B | c.684G>A (p.Gly228=) n.505G>A | gnomAD v4 |
| 4 | g.41746071dup | CA2586973809 | PHOX2B | c.684dup (p.Pro229AlafsTer?) n.505dup | ClinVar |
| 4 | g.41746071del | CA2670427169 | PHOX2B | c.684del (p.Gly231AlafsTer?) n.505del | gnomAD v4 |
| 4 | g.41746069C>A | CA356737403 | PHOX2B | c.683G>T (p.Gly228Val) n.504G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746069C>G | CA356737404 | PHOX2B | c.683G>C (p.Gly228Ala) n.504G>C | |
| 4 | g.41746069C>T | CA356737406 | PHOX2B | c.683G>A (p.Gly228Glu) n.504G>A | |
| 4 | g.41746078_41746109del | CA2580071010 | PHOX2B | c.652_683del (p.Pro218AlafsTer?) n.473_504del | ClinVar gnomAD v4 |
| 4 | g.41746070C>A | CA356737409 | PHOX2B | c.682G>T (p.Gly228Trp) n.503G>T | gnomAD v4 |
| 4 | g.41746070C>G | CA356737410 | PHOX2B | c.682G>C (p.Gly228Arg) n.503G>C | ClinVar |
| 4 | g.41746070C>T | CA356737412 | PHOX2B | c.682G>A (p.Gly228Arg) n.503G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746078_41746112del | CA2670427170 | PHOX2B | c.648_682del (p.Gly217AlafsTer?) n.469_503del | gnomAD v4 |
| 4 | g.41746078_41746115del | CA2670427171 | PHOX2B | c.645_682del (p.Gly216AlafsTer?) n.466_503del | gnomAD v4 |
| 4 | g.41746071C>A | CA439142911 | PHOX2B | c.681G>T (p.Ala227=) n.502G>T | dbSNP gnomAD v4 |
| 4 | g.41746071C>G | CA439142912 | PHOX2B | c.681G>C (p.Ala227=) n.502G>C | |
| 4 | g.41746071C>T | CA10582225 | PHOX2B | c.681G>A (p.Ala227=) n.502G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746072G>A | CA2901455 | PHOX2B | c.680C>T (p.Ala227Val) n.501C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746072G>C | CA2901454 | PHOX2B | c.680C>G (p.Ala227Gly) n.501C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746072G>T | CA2901453 | PHOX2B | c.680C>A (p.Ala227Glu) n.501C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746072_41746073delinsAA | CA915943036 | PHOX2B | c.679_680delinsTT (p.Ala227Leu) n.500_501delinsTT | ClinVar dbSNP |
| 4 | g.41746073C>A | CA2901456 | PHOX2B | c.679G>T (p.Ala227Ser) n.500G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746073C>G | CA356737419 | PHOX2B | c.679G>C (p.Ala227Pro) n.500G>C | |
| 4 | g.41746073C>T | CA356737417 | PHOX2B | c.679G>A (p.Ala227Thr) n.500G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746074C>A | CA439142919 | PHOX2B | c.678G>T (p.Ala226=) n.499G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746074C>G | CA439142918 | PHOX2B | c.678G>C (p.Ala226=) n.499G>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746074C>T | CA439142917 | PHOX2B | c.678G>A (p.Ala226=) n.499G>A | ClinVar gnomAD v4 |
| 4 | g.41746075_41746076del | CA2670427172 | PHOX2B | c.677_678del (p.Ala226GlyfsTer?) n.498_499del | gnomAD v4 |
| 4 | g.41746075del | CA2670427173 | PHOX2B | c.677del (p.Ala226GlyfsTer?) n.498del | gnomAD v4 |
| 4 | g.41746075G>A | CA356737422 | PHOX2B | c.677C>T (p.Ala226Val) n.498C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.41746075G>C | CA356737425 | PHOX2B | c.677C>G (p.Ala226Gly) n.498C>G | ClinVar gnomAD v4 |
| 4 | g.41746075G>T | CA95828508 | PHOX2B | c.677C>A (p.Ala226Glu) n.498C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746076C>A | CA356737426 | PHOX2B | c.676G>T (p.Ala226Ser) n.497G>T | gnomAD v4 |
| 4 | g.41746076C>G | CA356737427 | PHOX2B | c.676G>C (p.Ala226Pro) n.497G>C | ClinVar dbSNP |
| 4 | g.41746076C>T | CA95828509 | PHOX2B | c.676G>A (p.Ala226Thr) n.497G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746080dup | CA2586973810 | PHOX2B | c.676dup (p.Ala226GlyfsTer?) n.497dup | gnomAD v4 |
| 4 | g.41746080del | CA2580071011 | PHOX2B | c.676del (p.Ala226ArgfsTer?) n.497del | ClinVar gnomAD v4 |
| 4 | g.41746077C>A | CA439142921 | PHOX2B | c.675G>T (p.Gly225=) n.496G>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746077C>G | CA439142923 | PHOX2B | c.675G>C (p.Gly225=) n.496G>C | |
| 4 | g.41746077C>T | CA439142925 | PHOX2B | c.675G>A (p.Gly225=) n.496G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746078C>A | CA356737430 | PHOX2B | c.674G>T (p.Gly225Val) n.495G>T | gnomAD v4 |
| 4 | g.41746078C>G | CA356737432 | PHOX2B | c.674G>C (p.Gly225Ala) n.495G>C | |
| 4 | g.41746078C>T | CA356737434 | PHOX2B | c.674G>A (p.Gly225Glu) n.495G>A | ClinVar |
| 4 | g.41746079C>A | CA356737436 | PHOX2B | c.673G>T (p.Gly225Trp) n.494G>T | gnomAD v4 |
| 4 | g.41746079C>G | CA356737438 | PHOX2B | c.673G>C (p.Gly225Arg) n.494G>C | ClinVar |
| 4 | g.41746079C>T | CA95828512 | PHOX2B | c.673G>A (p.Gly225Arg) n.494G>A | dbSNP gnomAD v4 |
| 4 | g.41746081_41746115del | CA2901457 | PHOX2B | c.639_673del (p.Gly217AlafsTer?) n.460_494del | dbSNP ExAC |
| 4 | g.41746081_41746118del | CA645526521 | PHOX2B | c.636_673del (p.Gly216AlafsTer?) n.457_494del | COSMIC |
| 4 | g.41746080C>A | CA439142929 | PHOX2B | c.672G>T (p.Pro224=) n.493G>T | ClinVar gnomAD v4 |
| 4 | g.41746080C>G | CA439142930 | PHOX2B | c.672G>C (p.Pro224=) n.493G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746080C>T | CA439142931 | PHOX2B | c.672G>A (p.Pro224=) n.493G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746081G>A | CA356737444 | PHOX2B | c.671C>T (p.Pro224Leu) n.492C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746081G>C | CA356737443 | PHOX2B | c.671C>G (p.Pro224Arg) n.492C>G | dbSNP |
| 4 | g.41746081G>T | CA356737441 | PHOX2B | c.671C>A (p.Pro224Gln) n.492C>A | gnomAD v4 COSMIC |
| 4 | g.41746082_41746084del | CA2580071012 | PHOX2B | c.669_671del (p.Pro224del) n.490_492del | ClinVar |
| 4 | g.41746082G>A | CA356737446 | PHOX2B | c.670C>T (p.Pro224Ser) n.491C>T | |
| 4 | g.41746082G>C | CA356737448 | PHOX2B | c.670C>G (p.Pro224Ala) n.491C>G | |
| 4 | g.41746082G>T | CA16611442 | PHOX2B | c.670C>A (p.Pro224Thr) n.491C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746083A>C | CA439142935 | PHOX2B | c.669T>G (p.Ala223=) n.490T>G | ClinVar dbSNP |
| 4 | g.41746083A>G | CA439142936 | PHOX2B | c.669T>C (p.Ala223=) n.490T>C | dbSNP gnomAD v4 |
| 4 | g.41746083A>T | CA439142937 | PHOX2B | c.669T>A (p.Ala223=) n.490T>A | |
| 4 | g.41746083_41746103del | CA551141140 | PHOX2B | c.649_669del (p.Gly217_Ala223del) n.470_490del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746084G>A | CA356737450 | PHOX2B | c.668C>T (p.Ala223Val) n.489C>T | gnomAD v4 |
| 4 | g.41746084G>C | CA356737451 | PHOX2B | c.668C>G (p.Ala223Gly) n.489C>G | |
| 4 | g.41746084G>T | CA356737452 | PHOX2B | c.668C>A (p.Ala223Asp) n.489C>A | gnomAD v4 |
| 4 | g.41746085C>A | CA2901458 | PHOX2B | c.667G>T (p.Ala223Ser) n.488G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.41746085C>G | CA356737455 | PHOX2B | c.667G>C (p.Ala223Pro) n.488G>C | COSMIC |
| 4 | g.41746085C>T | CA356737457 | PHOX2B | c.667G>A (p.Ala223Thr) n.488G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746086_41746087del | CA2579987809 | PHOX2B | c.666_667del (p.Ala223SerfsTer?) n.487_488del | |
| 4 | g.41746086T>A | CA439142939 | PHOX2B | c.666A>T (p.Gly222=) n.487A>T | |
| 4 | g.41746086T>C | CA439142942 | PHOX2B | c.666A>G (p.Gly222=) n.487A>G | gnomAD v4 |
| 4 | g.41746086T>G | CA439142944 | PHOX2B | c.666A>C (p.Gly222=) n.487A>C | |
| 4 | g.41746087C>A | CA356737461 | PHOX2B | c.665G>T (p.Gly222Val) n.486G>T | |
| 4 | g.41746087C>G | CA2901459 | PHOX2B | c.665G>C (p.Gly222Ala) n.486G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746087C>T | CA356737463 | PHOX2B | c.665G>A (p.Gly222Glu) n.486G>A | COSMIC |
| 4 | g.41746088del | CA2670427174 | PHOX2B | c.665del (p.Gly222GlufsTer?) n.486del | gnomAD v4 |
| 4 | g.41746088C>A | CA356737467 | PHOX2B | c.664G>T (p.Gly222Ter) n.485G>T | |
| 4 | g.41746088C>G | CA356737466 | PHOX2B | c.664G>C (p.Gly222Arg) n.485G>C | |
| 4 | g.41746088C>T | CA356737465 | PHOX2B | c.664G>A (p.Gly222Arg) n.485G>A | gnomAD v4 COSMIC |
| 4 | g.41746089A>C | CA439142948 | PHOX2B | c.663T>G (p.Ala221=) n.484T>G | dbSNP |
| 4 | g.41746089A>G | CA439142949 | PHOX2B | c.663T>C (p.Ala221=) n.484T>C | ClinVar gnomAD v4 |
| 4 | g.41746089A>T | CA439142947 | PHOX2B | c.663T>A (p.Ala221=) n.484T>A | |
| 4 | g.41746089dup | CA2586973811 | PHOX2B | c.663dup (p.Gly222TrpfsTer?) n.484dup | |
| 4 | g.41746090G>A | CA2901460 | PHOX2B | c.662C>T (p.Ala221Val) n.483C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746090G>C | CA356737468 | PHOX2B | c.662C>G (p.Ala221Gly) n.483C>G | |
| 4 | g.41746090G>T | CA356737469 | PHOX2B | c.662C>A (p.Ala221Asp) n.483C>A | gnomAD v4 |
| 4 | g.41746091C>A | CA356737470 | PHOX2B | c.661G>T (p.Ala221Ser) n.482G>T | gnomAD v4 |
| 4 | g.41746091C>G | CA356737471 | PHOX2B | c.661G>C (p.Ala221Pro) n.482G>C | ClinVar dbSNP |
| 4 | g.41746091C>T | CA2901461 | PHOX2B | c.661G>A (p.Ala221Thr) n.482G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746092C>A | CA439142954 | PHOX2B | c.660G>T (p.Pro220=) n.481G>T | ClinVar gnomAD v4 COSMIC |
| 4 | g.41746092C>G | CA439142957 | PHOX2B | c.660G>C (p.Pro220=) n.481G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746092C>T | CA439142956 | PHOX2B | c.660G>A (p.Pro220=) n.481G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746093G>A | CA356737472 | PHOX2B | c.659C>T (p.Pro220Leu) n.480C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746093G>C | CA356737473 | PHOX2B | c.659C>G (p.Pro220Arg) n.480C>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746093G>T | CA356737474 | PHOX2B | c.659C>A (p.Pro220Gln) n.480C>A | ClinVar gnomAD v3 gnomAD v4 |
| 4 | g.41746094G>A | CA356737475 | PHOX2B | c.658C>T (p.Pro220Ser) n.479C>T | ClinVar dbSNP |
| 4 | g.41746094G>C | CA356737476 | PHOX2B | c.658C>G (p.Pro220Ala) n.479C>G | |
| 4 | g.41746094G>T | CA356737478 | PHOX2B | c.658C>A (p.Pro220Thr) n.479C>A | ClinVar gnomAD v4 |
| 4 | g.41746095G>A | CA439142961 | PHOX2B | c.657C>T (p.Ser219=) n.478C>T | ClinVar gnomAD v4 |
| 4 | g.41746095G>C | CA356737479 | PHOX2B | c.657C>G (p.Ser219Arg) n.478C>G | ClinVar |
| 4 | g.41746095G>T | CA356737481 | PHOX2B | c.657C>A (p.Ser219Arg) n.478C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746096C>A | CA356737483 | PHOX2B | c.656G>T (p.Ser219Ile) n.477G>T | gnomAD v4 |
| 4 | g.41746096C>G | CA356737487 | PHOX2B | c.656G>C (p.Ser219Thr) n.477G>C | |
| 4 | g.41746096C>T | CA356737485 | PHOX2B | c.656G>A (p.Ser219Asn) n.477G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746097T>A | CA356737488 | PHOX2B | c.655A>T (p.Ser219Cys) n.476A>T | dbSNP |
| 4 | g.41746097T>C | CA356737489 | PHOX2B | c.655A>G (p.Ser219Gly) n.476A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746097T>G | CA356737490 | PHOX2B | c.655A>C (p.Ser219Arg) n.476A>C | |
| 4 | g.41746098G>A | CA439142967 | PHOX2B | c.654C>T (p.Pro218=) n.475C>T | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746098G>C | CA439142968 | PHOX2B | c.654C>G (p.Pro218=) n.475C>G | |
| 4 | g.41746098G>T | CA2901462 | PHOX2B | c.654C>A (p.Pro218=) n.475C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746100del | CA2670427175 | PHOX2B | c.654del (p.Ser219AlafsTer?) n.475del | gnomAD v4 |
| 4 | g.41746099G>A | CA356737493 | PHOX2B | c.653C>T (p.Pro218Leu) n.474C>T | gnomAD v4 COSMIC |
| 4 | g.41746099G>C | CA356737494 | PHOX2B | c.653C>G (p.Pro218Arg) n.474C>G | ClinVar dbSNP |
| 4 | g.41746099G>T | CA356737496 | PHOX2B | c.653C>A (p.Pro218His) n.474C>A | |
| 4 | g.41746100G>A | CA356737497 | PHOX2B | c.652C>T (p.Pro218Ser) n.473C>T | ClinVar gnomAD v4 |
| 4 | g.41746100G>C | CA356737499 | PHOX2B | c.652C>G (p.Pro218Ala) n.473C>G | |
| 4 | g.41746100G>T | CA356737500 | PHOX2B | c.652C>A (p.Pro218Thr) n.473C>A | gnomAD v4 |
| 4 | g.41746101C>A | CA2901464 | PHOX2B | c.651G>T (p.Gly217=) n.472G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746101C>G | CA439142976 | PHOX2B | c.651G>C (p.Gly217=) n.472G>C | |
| 4 | g.41746101C>T | CA439142977 | PHOX2B | c.651G>A (p.Gly217=) n.472G>A | gnomAD v4 |
| 4 | g.41746102C>A | CA356737509 | PHOX2B | c.650G>T (p.Gly217Val) n.471G>T | gnomAD v4 |
| 4 | g.41746102C>G | CA356737506 | PHOX2B | c.650G>C (p.Gly217Ala) n.471G>C | |
| 4 | g.41746102C>T | CA356737504 | PHOX2B | c.650G>A (p.Gly217Glu) n.471G>A | ClinVar gnomAD v4 |
| 4 | g.41746113_41746115dup | CA551141141 | PHOX2B | c.648_650dup (p.Gly217_Pro218insGly) n.469_471dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746113_41746115del | CA2901463 | PHOX2B | c.648_650del (p.Gly217del) n.469_471del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746103C>A | CA356737510 | PHOX2B | c.649G>T (p.Gly217Trp) n.470G>T | ClinVar gnomAD v4 |
| 4 | g.41746103C>G | CA356737512 | PHOX2B | c.649G>C (p.Gly217Arg) n.470G>C | ClinVar dbSNP |
| 4 | g.41746103C>T | CA2901465 | PHOX2B | c.649G>A (p.Gly217Arg) n.470G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746104G>A | CA439142984 | PHOX2B | c.648C>T (p.Gly216=) n.469C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746104G>C | CA95828534 | PHOX2B | c.648C>G (p.Gly216=) n.469C>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746104G>T | CA439142985 | PHOX2B | c.648C>A (p.Gly216=) n.469C>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746105C>A | CA356737515 | PHOX2B | c.647G>T (p.Gly216Val) n.468G>T | gnomAD v4 |
| 4 | g.41746105C>G | CA356737517 | PHOX2B | c.647G>C (p.Gly216Ala) n.468G>C | |
| 4 | g.41746105C>T | CA356737520 | PHOX2B | c.647G>A (p.Gly216Asp) n.468G>A | gnomAD v4 |
| 4 | g.41746106C>A | CA356737522 | PHOX2B | c.646G>T (p.Gly216Cys) n.467G>T | ClinVar gnomAD v4 |
| 4 | g.41746106C>G | CA356737525 | PHOX2B | c.646G>C (p.Gly216Arg) n.467G>C | |
| 4 | g.41746106C>T | CA356737528 | PHOX2B | c.646G>A (p.Gly216Ser) n.467G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746107_41746108del | CA2586973812 | PHOX2B | c.645_646del (p.Gly216ArgfsTer?) n.466_467del | |
| 4 | g.41746107G>A | CA439142989 | PHOX2B | c.645C>T (p.Gly215=) n.466C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 4 | g.41746107G>C | CA439142990 | PHOX2B | c.645C>G (p.Gly215=) n.466C>G | |
| 4 | g.41746107G>T | CA439142991 | PHOX2B | c.645C>A (p.Gly215=) n.466C>A | ClinVar |
| 4 | g.41746108C>A | CA356737529 | PHOX2B | c.644G>T (p.Gly215Val) n.465G>T | gnomAD v4 |
| 4 | g.41746108C>G | CA356737532 | PHOX2B | c.644G>C (p.Gly215Ala) n.465G>C | |
| 4 | g.41746108C>T | CA356737531 | PHOX2B | c.644G>A (p.Gly215Asp) n.465G>A | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746109C>A | CA356737533 | PHOX2B | c.643G>T (p.Gly215Cys) n.464G>T | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746109C>G | CA356737534 | PHOX2B | c.643G>C (p.Gly215Arg) n.464G>C | ClinVar gnomAD v4 |
| 4 | g.41746109C>T | CA356737535 | PHOX2B | c.643G>A (p.Gly215Ser) n.464G>A | |
| 4 | g.41746110G>A | CA2901466 | PHOX2B | c.642C>T (p.Gly214=) n.463C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.41746110G>C | CA439142993 | PHOX2B | c.642C>G (p.Gly214=) n.463C>G | |
| 4 | g.41746110G>T | CA439142992 | PHOX2B | c.642C>A (p.Gly214=) n.463C>A | ClinVar gnomAD v4 |
| 4 | g.41746110_41746111delinsTT | CA2497074310 | PHOX2B | c.641_642delinsAA (p.Gly214Glu) n.462_463delinsAA | ClinVar dbSNP |
| 4 | g.41746111C>A | CA356737543 | PHOX2B | c.641G>T (p.Gly214Val) n.462G>T | ClinVar gnomAD v4 |
| 4 | g.41746111C>G | CA356737539 | PHOX2B | c.641G>C (p.Gly214Ala) n.462G>C | ClinVar dbSNP |
| 4 | g.41746111C>T | CA356737542 | PHOX2B | c.641G>A (p.Gly214Asp) n.462G>A | gnomAD v4 |
| 4 | g.41746113_41746118dup | CA658657381 | PHOX2B | c.636_641dup (p.Gly214_Gly215insGlyGly) n.457_462dup | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746112C>A | CA356737546 | PHOX2B | c.640G>T (p.Gly214Cys) n.461G>T | ClinVar dbSNP |
| 4 | g.41746112C>G | CA356737549 | PHOX2B | c.640G>C (p.Gly214Arg) n.461G>C | |
| 4 | g.41746112C>T | CA2901467 | PHOX2B | c.640G>A (p.Gly214Ser) n.461G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746113G>A | CA2901471 | PHOX2B | c.639C>T (p.Gly213=) n.460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746113G>C | CA2901468 | PHOX2B | c.639C>G (p.Gly213=) n.460C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746113G>T | CA2901469 | PHOX2B | c.639C>A (p.Gly213=) n.460C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746114C>A | CA356737559 | PHOX2B | c.638G>T (p.Gly213Val) n.459G>T | ClinVar dbSNP |
| 4 | g.41746114C>G | CA356737562 | PHOX2B | c.638G>C (p.Gly213Ala) n.459G>C | |
| 4 | g.41746114C>T | CA356737564 | PHOX2B | c.638G>A (p.Gly213Asp) n.459G>A | ClinVar dbSNP |
| 4 | g.41746116_41746118dup | CA2901470 | PHOX2B | c.636_638dup (p.Gly213_Gly214insGly) n.457_459dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746115C>A | CA356737567 | PHOX2B | c.637G>T (p.Gly213Cys) n.458G>T | |
| 4 | g.41746115C>G | CA356737570 | PHOX2B | c.637G>C (p.Gly213Arg) n.458G>C | |
| 4 | g.41746115C>T | CA2901472 | PHOX2B | c.637G>A (p.Gly213Ser) n.458G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746116T>A | CA439143001 | PHOX2B | c.636A>T (p.Gly212=) n.457A>T | gnomAD v4 |
| 4 | g.41746116T>C | CA439143003 | PHOX2B | c.636A>G (p.Gly212=) n.457A>G | ClinVar gnomAD v4 |
| 4 | g.41746116T>G | CA439143002 | PHOX2B | c.636A>C (p.Gly212=) n.457A>C | |
| 4 | g.41746117C>A | CA356737579 | PHOX2B | c.635G>T (p.Gly212Val) n.456G>T | gnomAD v4 |
| 4 | g.41746117C>G | CA356737574 | PHOX2B | c.635G>C (p.Gly212Ala) n.456G>C | ClinVar dbSNP |
| 4 | g.41746117C>T | CA356737577 | PHOX2B | c.635G>A (p.Gly212Glu) n.456G>A | gnomAD v4 |
| 4 | g.41746118C>A | CA356737583 | PHOX2B | c.634G>T (p.Gly212Ter) n.455G>T | |
| 4 | g.41746118C>G | CA356737584 | PHOX2B | c.634G>C (p.Gly212Arg) n.455G>C | |
| 4 | g.41746118C>T | CA356737587 | PHOX2B | c.634G>A (p.Gly212Arg) n.455G>A | |
| 4 | g.41746119_41746132del | CA2586973813 | PHOX2B | c.621_634del (p.Ser207ArgfsTer?) n.442_455del | |
| 4 | g.41746119A>C | CA16611436 | PHOX2B | c.633T>G (p.Asn211Lys) n.454T>G | ClinVar dbSNP |
| 4 | g.41746119A>G | CA439143006 | PHOX2B | c.633T>C (p.Asn211=) n.454T>C | ClinVar gnomAD v4 |
| 4 | g.41746119A>T | CA356737590 | PHOX2B | c.633T>A (p.Asn211Lys) n.454T>A | gnomAD v4 |
| 4 | g.41746120T>A | CA356737593 | PHOX2B | c.632A>T (p.Asn211Ile) n.453A>T | ClinVar |
| 4 | g.41746120T>C | CA356737595 | PHOX2B | c.632A>G (p.Asn211Ser) n.453A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.41746120T>G | CA356737596 | PHOX2B | c.632A>C (p.Asn211Thr) n.453A>C | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746121T>A | CA356737598 | PHOX2B | c.631A>T (p.Asn211Tyr) n.452A>T | |
| 4 | g.41746121T>C | CA356737603 | PHOX2B | c.631A>G (p.Asn211Asp) n.452A>G | |
| 4 | g.41746121T>G | CA356737600 | PHOX2B | c.631A>C (p.Asn211His) n.452A>C | |
| 4 | g.41746122C>A | CA2901473 | PHOX2B | c.630G>T (p.Ala210=) n.451G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746122C>G | CA439143013 | PHOX2B | c.630G>C (p.Ala210=) n.451G>C | |
| 4 | g.41746122C>T | CA439143015 | PHOX2B | c.630G>A (p.Ala210=) n.451G>A | gnomAD v4 COSMIC |
| 4 | g.41746123G>A | CA356737607 | PHOX2B | c.629C>T (p.Ala210Val) n.450C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.41746123G>C | CA356737608 | PHOX2B | c.629C>G (p.Ala210Gly) n.450C>G | |
| 4 | g.41746123G>T | CA356737622 | PHOX2B | c.629C>A (p.Ala210Glu) n.450C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746124C>A | CA356737626 | PHOX2B | c.628G>T (p.Ala210Ser) n.449G>T | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41746124C>G | CA356737630 | PHOX2B | c.628G>C (p.Ala210Pro) n.449G>C | ClinVar dbSNP |
| 4 | g.41746124C>T | CA356737628 | PHOX2B | c.628G>A (p.Ala210Thr) n.449G>A | |
| 4 | g.41746125C>A | CA439143023 | PHOX2B | c.627G>T (p.Gly209=) n.448G>T | ClinVar gnomAD v4 |
| 4 | g.41746125C>G | CA439143019 | PHOX2B | c.627G>C (p.Gly209=) n.448G>C | |
| 4 | g.41746125C>T | CA439143021 | PHOX2B | c.627G>A (p.Gly209=) n.448G>A | |
| 4 | g.41746126C>A | CA356737632 | PHOX2B | c.626G>T (p.Gly209Val) n.447G>T | gnomAD v4 |
| 4 | g.41746126C>G | CA356737634 | PHOX2B | c.626G>C (p.Gly209Ala) n.447G>C | |
| 4 | g.41746126C>T | CA356737637 | PHOX2B | c.626G>A (p.Gly209Glu) n.447G>A | ClinVar dbSNP |