| 4 | g.41745905T>A | CA356737006 | PHOX2B | c.847A>T (p.Ile283Phe)
| |
| 4 | g.41745905T>C | CA356737008 | PHOX2B | c.847A>G (p.Ile283Val)
| |
| 4 | g.41745905T>G | CA356737010 | PHOX2B | c.847A>C (p.Ile283Leu)
| ClinVar |
| 4 | g.41745907_41745912del | CA2739289673 | PHOX2B | c.842_847del (p.Thr281_Ser282del)
| |
| 4 | g.41745906_41745942del | CA2497074301 | PHOX2B | c.811_847del (p.Gln271SerfsTer26)
| ClinVar dbSNP |
| 4 | g.41745906G>A | CA439142894 | PHOX2B | c.846C>T (p.Ser282=)
| |
| 4 | g.41745906G>C | CA439142895 | PHOX2B | c.846C>G (p.Ser282=)
| |
| 4 | g.41745906G>T | CA439142896 | PHOX2B | c.846C>A (p.Ser282=)
| gnomAD v4 |
| 4 | g.41745907G>A | CA356737016 | PHOX2B | c.845C>T (p.Ser282Phe)
| |
| 4 | g.41745907G>C | CA356737013 | PHOX2B | c.845C>G (p.Ser282Cys)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745907G>T | CA356737014 | PHOX2B | c.845C>A (p.Ser282Tyr)
| gnomAD v4 |
| 4 | g.41745908A>C | CA356737018 | PHOX2B | c.844T>G (p.Ser282Ala)
| |
| 4 | g.41745908A>G | CA356737021 | PHOX2B | c.844T>C (p.Ser282Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745908A>T | CA356737019 | PHOX2B | c.844T>A (p.Ser282Thr)
| |
| 4 | g.41745909G>A | CA439142900 | PHOX2B | c.843C>T (p.Thr281=)
| ClinVar dbSNP |
| 4 | g.41745909G>C | CA439142901 | PHOX2B | c.843C>G (p.Thr281=)
| |
| 4 | g.41745909G>T | CA439142902 | PHOX2B | c.843C>A (p.Thr281=)
| gnomAD v4 |
| 4 | g.41745911_41745918del | CA2580070993 | PHOX2B | c.836_843del (p.Pro279LeufsTer?)
| ClinVar |
| 4 | g.41745909_41745910insT | CA2586973788 | PHOX2B | c.842_843insA (p.Ser282LeufsTer?)
| |
| 4 | g.41745910G>A | CA356737023 | PHOX2B | c.842C>T (p.Thr281Ile)
| ClinVar |
| 4 | g.41745910G>C | CA356737024 | PHOX2B | c.842C>G (p.Thr281Ser)
| |
| 4 | g.41745910G>T | CA356737027 | PHOX2B | c.842C>A (p.Thr281Asn)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745911T>A | CA356737029 | PHOX2B | c.841A>T (p.Thr281Ser)
| |
| 4 | g.41745911T>C | CA356737030 | PHOX2B | c.841A>G (p.Thr281Ala)
| |
| 4 | g.41745911T>G | CA356737032 | PHOX2B | c.841A>C (p.Thr281Pro)
| ClinVar dbSNP |
| 4 | g.41745912G>A | CA439142905 | PHOX2B | c.840C>T (p.Ile280=)
| dbSNP gnomAD v4 |
| 4 | g.41745912G>C | CA356737034 | PHOX2B | c.840C>G (p.Ile280Met)
| |
| 4 | g.41745912G>T | CA439142903 | PHOX2B | c.840C>A (p.Ile280=)
| ClinVar gnomAD v4 |
| 4 | g.41745913A>C | CA356737036 | PHOX2B | c.839T>G (p.Ile280Ser)
| |
| 4 | g.41745913A>G | CA356737037 | PHOX2B | c.839T>C (p.Ile280Thr)
| |
| 4 | g.41745913A>T | CA356737038 | PHOX2B | c.839T>A (p.Ile280Asn)
| |
| 4 | g.41745914T>A | CA356737039 | PHOX2B | c.838A>T (p.Ile280Phe)
| |
| 4 | g.41745914T>C | CA356737040 | PHOX2B | c.838A>G (p.Ile280Val)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745914T>G | CA356737041 | PHOX2B | c.838A>C (p.Ile280Leu)
| |
| 4 | g.41745914_41745919dup | CA2499217209 | PHOX2B | c.833_838dup (p.Pro279_Ile280insSerPro)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745915G>A | CA439142908 | PHOX2B | c.837C>T (p.Pro279=)
| ClinVar |
| 4 | g.41745915G>C | CA439142909 | PHOX2B | c.837C>G (p.Pro279=)
| |
| 4 | g.41745915G>T | CA439142910 | PHOX2B | c.837C>A (p.Pro279=)
| gnomAD v4 |
| 4 | g.41745924_41745929dup | CA2901405 | PHOX2B | c.832_837dup (p.Pro279_Ile280insGlyPro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745924_41745929del | CA2670427130 | PHOX2B | c.832_837del (p.Gly278_Pro279del)
| gnomAD v4 |
| 4 | g.41745916G>A | CA356737042 | PHOX2B | c.836C>T (p.Pro279Leu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745916G>C | CA356737043 | PHOX2B | c.836C>G (p.Pro279Arg)
| |
| 4 | g.41745916G>T | CA356737044 | PHOX2B | c.836C>A (p.Pro279His)
| |
| 4 | g.41745917G>A | CA356737045 | PHOX2B | c.835C>T (p.Pro279Ser)
| |
| 4 | g.41745917G>C | CA356737046 | PHOX2B | c.835C>G (p.Pro279Ala)
| |
| 4 | g.41745917G>T | CA356737047 | PHOX2B | c.835C>A (p.Pro279Thr)
| ClinVar dbSNP |
| 4 | g.41745917_41745918insT | CA2586973789 | PHOX2B | c.834_835insA (p.Pro279ThrfsTer?)
| |
| 4 | g.41745918G>A | CA2901406 | PHOX2B | c.834C>T (p.Gly278=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745918G>C | CA439142913 | PHOX2B | c.834C>G (p.Gly278=)
| gnomAD v4 |
| 4 | g.41745918G>T | CA439142914 | PHOX2B | c.834C>A (p.Gly278=)
| |
| 4 | g.41745919C>A | CA356737048 | PHOX2B | c.833G>T (p.Gly278Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745919C>G | CA356737049 | PHOX2B | c.833G>C (p.Gly278Ala)
| |
| 4 | g.41745919C>T | CA356737050 | PHOX2B | c.833G>A (p.Gly278Asp)
| gnomAD v4 |
| 4 | g.41745920C>A | CA356737051 | PHOX2B | c.832G>T (p.Gly278Cys)
| gnomAD v4 |
| 4 | g.41745920C>G | CA356737052 | PHOX2B | c.832G>C (p.Gly278Arg)
| |
| 4 | g.41745920C>T | CA2901407 | PHOX2B | c.832G>A (p.Gly278Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745921G>A | CA439142915 | PHOX2B | c.831C>T (p.Pro277=)
| ClinVar gnomAD v4 |
| 4 | g.41745921G>C | CA2901408 | PHOX2B | c.831C>G (p.Pro277=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745921G>T | CA439142916 | PHOX2B | c.831C>A (p.Pro277=)
| |
| 4 | g.41745924dup | CA2586973790 | PHOX2B | c.831dup (p.Gly278ArgfsTer?)
| |
| 4 | g.41745924del | CA2670427131 | PHOX2B | c.831del (p.Gly278AlafsTer?)
| gnomAD v4 |
| 4 | g.41745922G>A | CA356737053 | PHOX2B | c.830C>T (p.Pro277Leu)
| ClinVar dbSNP |
| 4 | g.41745922G>C | CA356737055 | PHOX2B | c.830C>G (p.Pro277Arg)
| ClinVar gnomAD v4 |
| 4 | g.41745922G>T | CA356737054 | PHOX2B | c.830C>A (p.Pro277His)
| ClinVar |
| 4 | g.41745923G>A | CA356737056 | PHOX2B | c.829C>T (p.Pro277Ser)
| COSMIC |
| 4 | g.41745923G>C | CA356737057 | PHOX2B | c.829C>G (p.Pro277Ala)
| |
| 4 | g.41745923G>T | CA356737058 | PHOX2B | c.829C>A (p.Pro277Thr)
| ClinVar dbSNP |
| 4 | g.41745924G>A | CA2901410 | PHOX2B | c.828C>T (p.Gly276=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745924G>C | CA439142920 | PHOX2B | c.828C>G (p.Gly276=)
| |
| 4 | g.41745924G>T | CA2901409 | PHOX2B | c.828C>A (p.Gly276=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745928_41745929insTGCCGG | CA2580070994 | PHOX2B | c.828_829insACCGGC (p.Gly276_Pro277insThrGly)
| ClinVar |
| 4 | g.41745925C>A | CA356737059 | PHOX2B | c.827G>T (p.Gly276Val)
| |
| 4 | g.41745925C>G | CA356737060 | PHOX2B | c.827G>C (p.Gly276Ala)
| gnomAD v4 |
| 4 | g.41745925C>T | CA356737061 | PHOX2B | c.827G>A (p.Gly276Asp)
| |
| 4 | g.41745929_41745930insTCCGGG | CA2670427132 | PHOX2B | c.827_828insACCCGG (p.Gly276_Pro277insProGly)
| gnomAD v4 |
| 4 | g.41745926C>A | CA356737062 | PHOX2B | c.826G>T (p.Gly276Cys)
| gnomAD v4 |
| 4 | g.41745926C>G | CA356737063 | PHOX2B | c.826G>C (p.Gly276Arg)
| |
| 4 | g.41745926C>T | CA161481 | PHOX2B | c.826G>A (p.Gly276Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745927G>A | CA439142922 | PHOX2B | c.825C>T (p.Pro275=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745927G>C | CA2901411 | PHOX2B | c.825C>G (p.Pro275=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745927G>T | CA439142924 | PHOX2B | c.825C>A (p.Pro275=)
| ClinVar gnomAD v4 |
| 4 | g.41745930_41745948dup | CA2586973792 | PHOX2B | c.807_825dup (p.Gly276TrpfsTer?)
| |
| 4 | g.41745928G>A | CA356737066 | PHOX2B | c.824C>T (p.Pro275Leu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745928G>C | CA356737065 | PHOX2B | c.824C>G (p.Pro275Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745928G>T | CA356737064 | PHOX2B | c.824C>A (p.Pro275His)
| |
| 4 | g.41745929G>A | CA356737067 | PHOX2B | c.823C>T (p.Pro275Ser)
| |
| 4 | g.41745929G>C | CA356737068 | PHOX2B | c.823C>G (p.Pro275Ala)
| ClinVar |
| 4 | g.41745929G>T | CA356737069 | PHOX2B | c.823C>A (p.Pro275Thr)
| gnomAD v4 |
| 4 | g.41745930A>C | CA439142926 | PHOX2B | c.822T>G (p.Ala274=)
| |
| 4 | g.41745930A>G | CA439142927 | PHOX2B | c.822T>C (p.Ala274=)
| gnomAD v4 |
| 4 | g.41745930A>T | CA439142928 | PHOX2B | c.822T>A (p.Ala274=)
| |
| 4 | g.41745931G>A | CA356737070 | PHOX2B | c.821C>T (p.Ala274Val)
| ClinVar gnomAD v4 |
| 4 | g.41745931G>C | CA356737071 | PHOX2B | c.821C>G (p.Ala274Gly)
| |
| 4 | g.41745931G>T | CA356737072 | PHOX2B | c.821C>A (p.Ala274Asp)
| gnomAD v4 |
| 4 | g.41745932C>A | CA356737073 | PHOX2B | c.820G>T (p.Ala274Ser)
| |
| 4 | g.41745932C>G | CA356737074 | PHOX2B | c.820G>C (p.Ala274Pro)
| ClinVar |
| 4 | g.41745932C>T | CA356737075 | PHOX2B | c.820G>A (p.Ala274Thr)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745933C>A | CA356737076 | PHOX2B | c.819G>T (p.Trp273Cys)
| gnomAD v4 |
| 4 | g.41745933C>G | CA356737077 | PHOX2B | c.819G>C (p.Trp273Cys)
| |
| 4 | g.41745933C>T | CA356737078 | PHOX2B | c.819G>A (p.Trp273Ter)
| ClinVar |
| 4 | g.41745934C>A | CA356737079 | PHOX2B | c.818G>T (p.Trp273Leu)
| |
| 4 | g.41745934C>G | CA356737081 | PHOX2B | c.818G>C (p.Trp273Ser)
| |
| 4 | g.41745934C>T | CA356737080 | PHOX2B | c.818G>A (p.Trp273Ter)
| |
| 4 | g.41745935A>C | CA356737082 | PHOX2B | c.817T>G (p.Trp273Gly)
| |
| 4 | g.41745935A>G | CA356737084 | PHOX2B | c.817T>C (p.Trp273Arg)
| |
| 4 | g.41745935A>T | CA356737083 | PHOX2B | c.817T>A (p.Trp273Arg)
| |
| 4 | g.41745936G>A | CA439142932 | PHOX2B | c.816C>T (p.Gly272=)
| gnomAD v4 |
| 4 | g.41745936G>C | CA439142933 | PHOX2B | c.816C>G (p.Gly272=)
| |
| 4 | g.41745936G>T | CA439142934 | PHOX2B | c.816C>A (p.Gly272=)
| gnomAD v4 |
| 4 | g.41745937C>A | CA356737085 | PHOX2B | c.815G>T (p.Gly272Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745937C>G | CA356737087 | PHOX2B | c.815G>C (p.Gly272Ala)
| ClinVar |
| 4 | g.41745937C>T | CA356737086 | PHOX2B | c.815G>A (p.Gly272Asp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745938C>A | CA356737088 | PHOX2B | c.814G>T (p.Gly272Cys)
| |
| 4 | g.41745938C>G | CA356737089 | PHOX2B | c.814G>C (p.Gly272Arg)
| gnomAD v4 |
| 4 | g.41745938C>T | CA356737090 | PHOX2B | c.814G>A (p.Gly272Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745939T>A | CA356737091 | PHOX2B | c.813A>T (p.Gln271His)
| |
| 4 | g.41745939T>C | CA439142938 | PHOX2B | c.813A>G (p.Gln271=)
| |
| 4 | g.41745939T>G | CA356737092 | PHOX2B | c.813A>C (p.Gln271His)
| |
| 4 | g.41745939_41745942delinsGCAG | CA2825001293 | PHOX2B | c.810_813delinsCTGC (p.Gln271Cys)
| ClinVar |
| 4 | g.41745939_41745940insC | CA2670427133 | PHOX2B | c.812_813insG (p.Gly272ArgfsTer?)
| gnomAD v4 |
| 4 | g.41745940T>A | CA356737093 | PHOX2B | c.812A>T (p.Gln271Leu)
| |
| 4 | g.41745940T>C | CA356737094 | PHOX2B | c.812A>G (p.Gln271Arg)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745940T>G | CA356737095 | PHOX2B | c.812A>C (p.Gln271Pro)
| ClinVar dbSNP |
| 4 | g.41745941G>A | CA356737096 | PHOX2B | c.811C>T (p.Gln271Ter)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745941G>C | CA356737097 | PHOX2B | c.811C>G (p.Gln271Glu)
| |
| 4 | g.41745941G>T | CA356737098 | PHOX2B | c.811C>A (p.Gln271Lys)
| COSMIC |
| 4 | g.41745942T>A | CA439142943 | PHOX2B | c.810A>T (p.Gly270=)
| ClinVar dbSNP |
| 4 | g.41745942T>C | CA439142941 | PHOX2B | c.810A>G (p.Gly270=)
| gnomAD v4 |
| 4 | g.41745942T>G | CA439142940 | PHOX2B | c.810A>C (p.Gly270=)
| ClinVar |
| 4 | g.41745943C>A | CA356737101 | PHOX2B | c.809G>T (p.Gly270Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745943C>G | CA356737099 | PHOX2B | c.809G>C (p.Gly270Ala)
| |
| 4 | g.41745943C>T | CA356737100 | PHOX2B | c.809G>A (p.Gly270Glu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745944C>A | CA356737102 | PHOX2B | c.808G>T (p.Gly270Ter)
| gnomAD v4 |
| 4 | g.41745944C>G | CA356737103 | PHOX2B | c.808G>C (p.Gly270Arg)
| ClinVar dbSNP |
| 4 | g.41745944C>T | CA356737104 | PHOX2B | c.808G>A (p.Gly270Arg)
| ClinVar dbSNP |
| 4 | g.41745945A>C | CA439142945 | PHOX2B | c.807T>G (p.Pro269=)
| |
| 4 | g.41745945A>G | CA2901412 | PHOX2B | c.807T>C (p.Pro269=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745945A>T | CA439142946 | PHOX2B | c.807T>A (p.Pro269=)
| COSMIC |
| 4 | g.41745946G>A | CA356737105 | PHOX2B | c.806C>T (p.Pro269Leu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745946G>C | CA356737106 | PHOX2B | c.806C>G (p.Pro269Arg)
| ClinVar gnomAD v4 |
| 4 | g.41745946G>T | CA356737107 | PHOX2B | c.806C>A (p.Pro269His)
| gnomAD v4 |
| 4 | g.41745947_41746015del | CA2580070995 | PHOX2B | c.738_806del (p.Ala247_Pro269del)
| ClinVar gnomAD v4 |
| 4 | g.41745947G>A | CA356737108 | PHOX2B | c.805C>T (p.Pro269Ser)
| ClinVar gnomAD v4 |
| 4 | g.41745947G>C | CA356737109 | PHOX2B | c.805C>G (p.Pro269Ala)
| |
| 4 | g.41745947G>T | CA356737110 | PHOX2B | c.805C>A (p.Pro269Thr)
| |
| 4 | g.41745948G>A | CA439142950 | PHOX2B | c.804C>T (p.Gly268=)
| gnomAD v4 |
| 4 | g.41745948G>C | CA439142951 | PHOX2B | c.804C>G (p.Gly268=)
| gnomAD v4 |
| 4 | g.41745948G>T | CA439142952 | PHOX2B | c.804C>A (p.Gly268=)
| |
| 4 | g.41745949C>A | CA2901413 | PHOX2B | c.803G>T (p.Gly268Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745949C>G | CA356737111 | PHOX2B | c.803G>C (p.Gly268Ala)
| |
| 4 | g.41745949C>T | CA2901414 | PHOX2B | c.803G>A (p.Gly268Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745953dup | CA2670427134 | PHOX2B | c.803dup (p.Gly270TrpfsTer?)
| gnomAD v4 |
| 4 | g.41745953del | CA1061554433 | PHOX2B | c.803del (p.Gly268AlafsTer?)
| gnomAD v3 gnomAD v4 |
| 4 | g.41745952_41745953del | CA2586973793 | PHOX2B | c.802_803del (p.Gly268ProfsTer?)
| |
| 4 | g.41745950C>A | CA2901415 | PHOX2B | c.802G>T (p.Gly268Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745950C>G | CA356737112 | PHOX2B | c.802G>C (p.Gly268Arg)
| gnomAD v4 |
| 4 | g.41745950C>T | CA356737113 | PHOX2B | c.802G>A (p.Gly268Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745951C>A | CA439142953 | PHOX2B | c.801G>T (p.Gly267=)
| gnomAD v4 |
| 4 | g.41745951C>G | CA2901416 | PHOX2B | c.801G>C (p.Gly267=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745951C>T | CA439142955 | PHOX2B | c.801G>A (p.Gly267=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745952C>A | CA356737114 | PHOX2B | c.800G>T (p.Gly267Val)
| gnomAD v4 |
| 4 | g.41745952C>G | CA356737115 | PHOX2B | c.800G>C (p.Gly267Ala)
| ClinVar gnomAD v4 |
| 4 | g.41745952C>T | CA356737116 | PHOX2B | c.800G>A (p.Gly267Glu)
| gnomAD v4 |
| 4 | g.41745953C>A | CA356737117 | PHOX2B | c.799G>T (p.Gly267Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745953C>G | CA356737118 | PHOX2B | c.799G>C (p.Gly267Arg)
| |
| 4 | g.41745953C>T | CA356737119 | PHOX2B | c.799G>A (p.Gly267Arg)
| gnomAD v4 |
| 4 | g.41745958_41745963del | CA2670427135 | PHOX2B | c.794_799del (p.Ala265_Ala266del)
| gnomAD v4 |
| 4 | g.41745954A>C | CA439142958 | PHOX2B | c.798T>G (p.Ala266=)
| ClinVar dbSNP |
| 4 | g.41745954A>G | CA439142959 | PHOX2B | c.798T>C (p.Ala266=)
| gnomAD v4 |
| 4 | g.41745954A>T | CA439142960 | PHOX2B | c.798T>A (p.Ala266=)
| |
| 4 | g.41745955G>A | CA2901417 | PHOX2B | c.797C>T (p.Ala266Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745955G>C | CA356737120 | PHOX2B | c.797C>G (p.Ala266Gly)
| ClinVar |
| 4 | g.41745955G>T | CA356737121 | PHOX2B | c.797C>A (p.Ala266Asp)
| gnomAD v4 |
| 4 | g.41745956C>A | CA356737122 | PHOX2B | c.796G>T (p.Ala266Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.41745956C>G | CA356737124 | PHOX2B | c.796G>C (p.Ala266Pro)
| |
| 4 | g.41745956C>T | CA356737123 | PHOX2B | c.796G>A (p.Ala266Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 4 | g.41745957C>A | CA439142962 | PHOX2B | c.795G>T (p.Ala265=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745957C>G | CA439142963 | PHOX2B | c.795G>C (p.Ala265=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745957C>T | CA439142964 | PHOX2B | c.795G>A (p.Ala265=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745958G>A | CA356737125 | PHOX2B | c.794C>T (p.Ala265Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745958G>C | CA356737126 | PHOX2B | c.794C>G (p.Ala265Gly)
| ClinVar |
| 4 | g.41745958G>T | CA356737127 | PHOX2B | c.794C>A (p.Ala265Glu)
| gnomAD v4 |
| 4 | g.41745959C>A | CA356737128 | PHOX2B | c.793G>T (p.Ala265Ser)
| gnomAD v4 |
| 4 | g.41745959C>G | CA356737129 | PHOX2B | c.793G>C (p.Ala265Pro)
| gnomAD v4 |
| 4 | g.41745959C>T | CA95828397 | PHOX2B | c.793G>A (p.Ala265Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745960A>C | CA439142965 | PHOX2B | c.792T>G (p.Ala264=)
| |
| 4 | g.41745960A>G | CA2901418 | PHOX2B | c.792T>C (p.Ala264=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745960A>T | CA439142966 | PHOX2B | c.792T>A (p.Ala264=)
| |
| 4 | g.41745961G>A | CA356737130 | PHOX2B | c.791C>T (p.Ala264Val)
| gnomAD v4 |
| 4 | g.41745961G>C | CA2901419 | PHOX2B | c.791C>G (p.Ala264Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745961G>T | CA356737131 | PHOX2B | c.791C>A (p.Ala264Asp)
| ClinVar gnomAD v4 |
| 4 | g.41745962C>A | CA356737133 | PHOX2B | c.790G>T (p.Ala264Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745962C>G | CA356737134 | PHOX2B | c.790G>C (p.Ala264Pro)
| |
| 4 | g.41745962C>T | CA356737132 | PHOX2B | c.790G>A (p.Ala264Thr)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745963C>A | CA439142969 | PHOX2B | c.789G>T (p.Leu263=)
| gnomAD v4 |
| 4 | g.41745963C>G | CA439142970 | PHOX2B | c.789G>C (p.Leu263=)
| ClinVar |
| 4 | g.41745963C>T | CA439142971 | PHOX2B | c.789G>A (p.Leu263=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745964A>C | CA356737135 | PHOX2B | c.788T>G (p.Leu263Arg)
| ClinVar |
| 4 | g.41745964A>G | CA356737136 | PHOX2B | c.788T>C (p.Leu263Pro)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745964A>T | CA356737137 | PHOX2B | c.788T>A (p.Leu263Gln)
| |
| 4 | g.41745965G>A | CA439142972 | PHOX2B | c.787C>T (p.Leu263=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745965G>C | CA2901420 | PHOX2B | c.787C>G (p.Leu263Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745965G>T | CA356737138 | PHOX2B | c.787C>A (p.Leu263Met)
| gnomAD v4 |
| 4 | g.41745966G>A | CA439142975 | PHOX2B | c.786C>T (p.Gly262=)
| gnomAD v4 |
| 4 | g.41745966G>C | CA439142974 | PHOX2B | c.786C>G (p.Gly262=)
| |
| 4 | g.41745966G>T | CA439142973 | PHOX2B | c.786C>A (p.Gly262=)
| gnomAD v4 |
| 4 | g.41745967C>A | CA2901421 | PHOX2B | c.785G>T (p.Gly262Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745967C>G | CA356737139 | PHOX2B | c.785G>C (p.Gly262Ala)
| |
| 4 | g.41745967C>T | CA356737140 | PHOX2B | c.785G>A (p.Gly262Asp)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745968C>A | CA356737141 | PHOX2B | c.784G>T (p.Gly262Cys)
| gnomAD v4 |
| 4 | g.41745968C>G | CA356737142 | PHOX2B | c.784G>C (p.Gly262Arg)
| |
| 4 | g.41745968C>T | CA356737143 | PHOX2B | c.784G>A (p.Gly262Ser)
| gnomAD v4 |
| 4 | g.41745969T>A | CA439142978 | PHOX2B | c.783A>T (p.Gly261=)
| |
| 4 | g.41745969T>C | CA439142979 | PHOX2B | c.783A>G (p.Gly261=)
| dbSNP gnomAD v4 |
| 4 | g.41745969T>G | CA439142980 | PHOX2B | c.783A>C (p.Gly261=)
| |
| 4 | g.41745970C>A | CA356737146 | PHOX2B | c.782G>T (p.Gly261Val)
| |
| 4 | g.41745970C>G | CA356737145 | PHOX2B | c.782G>C (p.Gly261Ala)
| ClinVar |
| 4 | g.41745970C>T | CA356737144 | PHOX2B | c.782G>A (p.Gly261Glu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745971del | CA2670427136 | PHOX2B | c.782del (p.Gly261GlufsTer?)
| gnomAD v4 |
| 4 | g.41745971C>A | CA356737147 | PHOX2B | c.781G>T (p.Gly261Ter)
| gnomAD v4 |
| 4 | g.41745971C>G | CA356737148 | PHOX2B | c.781G>C (p.Gly261Arg)
| |
| 4 | g.41745971C>T | CA356737149 | PHOX2B | c.781G>A (p.Gly261Arg)
| gnomAD v4 |
| 4 | g.41745972_41745980dup | CA2670427137 | PHOX2B | c.773_781dup (p.Ala260_Gly261insAlaAlaAla)
| gnomAD v4 |
| 4 | g.41745972_41745986dup | CA2586973794 | PHOX2B | c.767_781dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)
| |
| 4 | g.41745972del | CA2761184237 | PHOX2B | c.780del (p.Gly261GlufsTer?)
| |
| 4 | g.41745972A>C | CA439142981 | PHOX2B | c.780T>G (p.Ala260=)
| gnomAD v4 |
| 4 | g.41745972A>G | CA439142982 | PHOX2B | c.780T>C (p.Ala260=)
| gnomAD v3 gnomAD v4 |
| 4 | g.41745972A>T | CA439142983 | PHOX2B | c.780T>A (p.Ala260=)
| |
| 4 | g.41745972dup | CA2586973795 | PHOX2B | c.780dup (p.Gly261TrpfsTer?)
| |
| 4 | g.41745973G>A | CA16611539 | PHOX2B | c.779C>T (p.Ala260Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745973G>C | CA356737150 | PHOX2B | c.779C>G (p.Ala260Gly)
| gnomAD v3 gnomAD v4 |
| 4 | g.41745973G>T | CA356737151 | PHOX2B | c.779C>A (p.Ala260Asp)
| gnomAD v4 |
| 4 | g.41745983_41745984insCGCCGCTGCCGCCGC | CA1139658464 | PHOX2B | c.779_780insGGCGGCGGCGGCAGC (p.Ala260_Gly261insAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41745981_41745989dup | CA2670427138 | PHOX2B | c.771_779dup (p.Ala260_Gly261insAlaAlaAla)
| gnomAD v4 |
| 4 | g.41745981_41745989del | CA2901423 | PHOX2B | c.771_779del (p.Ala258_Ala260del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745975_41745995del | CA2670427139 | PHOX2B | c.759_779del (p.Ala254_Ala260del)
| gnomAD v4 |
| 4 | g.41745984_41745998dup | CA645369340 | PHOX2B | c.765_779dup (p.Ala260_Gly261insAlaAlaAlaAlaAla)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745984_41745998del | CA2901422 | PHOX2B | c.765_779del (p.Ala256_Ala260del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745981_41746010dup | CA2573052328 | PHOX2B | c.750_779dup (p.Ala260_Gly261insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41745981_41746010del | CA551141161 | PHOX2B | c.750_779del (p.Ala251_Ala260del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745973_41745974insGCTGCCGCCGCTGCCGCTGCCGCCGCCGCC | CA2580070996 | PHOX2B | c.778_779insGGCGGCGGCGGCAGCGGCAGCGGCGGCAGC (p.Ala260delinsGlyArgArgArgGlnArgGlnArgArgGlnPro)
| ClinVar |
| 4 | g.41745974C>A | CA356737152 | PHOX2B | c.778G>T (p.Ala260Ser)
| gnomAD v4 |
| 4 | g.41745974C>G | CA356737153 | PHOX2B | c.778G>C (p.Ala260Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745974C>T | CA356737154 | PHOX2B | c.778G>A (p.Ala260Thr)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745974_41745978del | CA2761184242 | PHOX2B | c.774_778del (p.Ala259TrpfsTer?)
| |
| 4 | g.41745975T>A | CA439142986 | PHOX2B | c.777A>T (p.Ala259=)
| ClinVar |
| 4 | g.41745975T>C | CA439142987 | PHOX2B | c.777A>G (p.Ala259=)
| ClinVar gnomAD v4 |
| 4 | g.41745975T>G | CA439142988 | PHOX2B | c.777A>C (p.Ala259=)
| ClinVar gnomAD v4 |
| 4 | g.41745976G>A | CA356737157 | PHOX2B | c.776C>T (p.Ala259Val)
| gnomAD v4 |
| 4 | g.41745976G>C | CA356737155 | PHOX2B | c.776C>G (p.Ala259Gly)
| ClinVar gnomAD v4 |
| 4 | g.41745976G>T | CA356737156 | PHOX2B | c.776C>A (p.Ala259Glu)
| gnomAD v4 |
| 4 | g.41745978_41745979insTCCGCTGCCGCTGCCGCCGCC | CA2580070997 | PHOX2B | c.776_777insGGCGGCAGCGGCAGCGGAGGC (p.Ala259_Ala260insAlaAlaAlaAlaAlaGluAla)
| ClinVar |
| 4 | g.41745981_41745983dup | CA551141163 | PHOX2B | c.774_776dup (p.Ala259_Ala260insAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745981_41745983del | CA2670427141 | PHOX2B | c.774_776del (p.Ala259del)
| gnomAD v4 |
| 4 | g.41745978_41745983del | CA2761184246 | PHOX2B | c.771_776del (p.Ala258_Ala259del)
| |
| 4 | g.41745989_41745990insGGCCGCCGCCGCCGCTGCCGC | CA2580616089 | PHOX2B | c.776_777insGGCGGCCGCGGCAGCGGCGGC (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla)
| |
| 4 | g.41745984_41746001del | CA2578074972 | PHOX2B | c.759_776del (p.Ala254_Ala259del)
| |
| 4 | g.41745990_41746010dup | CA658657380 | PHOX2B | c.756_776dup (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745990_41746010del | CA2901424 | PHOX2B | c.756_776del (p.Ala253_Ala259del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745984_41746019del | CA551141162 | PHOX2B | c.741_776del (p.Ala248_Ala259del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745981_41746022del | CA2670427140 | PHOX2B | c.735_776del (p.Ala246_Ala259del)
| gnomAD v4 |
| 4 | g.41745987_41746025dup | CA95828409 | PHOX2B | c.738_776dup (p.Ala259_Ala260insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41745987_41746025del | CA2901425 | PHOX2B | c.738_776del (p.Ala247_Ala259del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745976_41745977insGCCGCCGCTGCCGCTGCCGCC | CA2580070998 | PHOX2B | c.775_776insGGCGGCAGCGGCAGCGGCGGC (p.Ala259delinsGlyArgGlnArgGlnArgArgPro)
| ClinVar |
| 4 | g.41745977C>A | CA356737158 | PHOX2B | c.775G>T (p.Ala259Ser)
| gnomAD v4 |
| 4 | g.41745977C>G | CA356737159 | PHOX2B | c.775G>C (p.Ala259Pro)
| |
| 4 | g.41745977C>T | CA2901426 | PHOX2B | c.775G>A (p.Ala259Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745978C>A | CA439142995 | PHOX2B | c.774G>T (p.Ala258=)
| ClinVar |
| 4 | g.41745978C>G | CA439142994 | PHOX2B | c.774G>C (p.Ala258=)
| dbSNP gnomAD v4 |
| 4 | g.41745978C>T | CA439142996 | PHOX2B | c.774G>A (p.Ala258=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745979_41745983del | CA2670427142 | PHOX2B | c.770_774del (p.Ala257GlyfsTer?)
| gnomAD v4 |
| 4 | g.41745979G>A | CA356737160 | PHOX2B | c.773C>T (p.Ala258Val)
| gnomAD v4 |
| 4 | g.41745979G>C | CA356737161 | PHOX2B | c.773C>G (p.Ala258Gly)
| |
| 4 | g.41745979G>T | CA2901428 | PHOX2B | c.773C>A (p.Ala258Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745990_41745995dup | CA551141164 | PHOX2B | c.768_773dup (p.Ala258_Ala259insAlaAla)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745990_41745995del | CA1061554524 | PHOX2B | c.768_773del (p.Ala257_Ala258del)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745984_41746010dup | CA2582342653 | PHOX2B | c.747_773dup (p.Ala258_Ala259insAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar |
| 4 | g.41745984_41746010del | CA2901427 | PHOX2B | c.747_773del (p.Ala250_Ala258del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745984_41746016del | CA794914227 | PHOX2B | c.741_773del (p.Ala248_Ala258del)
| dbSNP gnomAD v4 |
| 4 | g.41745980C>A | CA356737162 | PHOX2B | c.772G>T (p.Ala258Ser)
| gnomAD v4 |
| 4 | g.41745980C>G | CA356737163 | PHOX2B | c.772G>C (p.Ala258Pro)
| |
| 4 | g.41745980C>T | CA2901429 | PHOX2B | c.772G>A (p.Ala258Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745981C>A | CA2901431 | PHOX2B | c.771G>T (p.Ala257=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745981C>G | CA439142997 | PHOX2B | c.771G>C (p.Ala257=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745981C>T | CA439142998 | PHOX2B | c.771G>A (p.Ala257=)
| gnomAD v4 |
| 4 | g.41745982G>A | CA356737165 | PHOX2B | c.770C>T (p.Ala257Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745982G>C | CA356737166 | PHOX2B | c.770C>G (p.Ala257Gly)
| |
| 4 | g.41745982G>T | CA356737164 | PHOX2B | c.770C>A (p.Ala257Glu)
| gnomAD v4 |
| 4 | g.41745984_41745992del | CA2901430 | PHOX2B | c.762_770del (p.Ala255_Ala257del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745987_41746028del | CA2670427143 | PHOX2B | c.729_770del (p.Ala244_Ala257del)
| gnomAD v4 |
| 4 | g.41745983C>A | CA356737167 | PHOX2B | c.769G>T (p.Ala257Ser)
| |
| 4 | g.41745983C>G | CA356737168 | PHOX2B | c.769G>C (p.Ala257Pro)
| |
| 4 | g.41745983C>T | CA356737169 | PHOX2B | c.769G>A (p.Ala257Thr)
| gnomAD v4 |
| 4 | g.41745984T>A | CA439142999 | PHOX2B | c.768A>T (p.Ala256=)
| |
| 4 | g.41745984T>C | CA2901432 | PHOX2B | c.768A>G (p.Ala256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745984T>G | CA439143000 | PHOX2B | c.768A>C (p.Ala256=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745985G>A | CA356737172 | PHOX2B | c.767C>T (p.Ala256Val)
| gnomAD v4 |
| 4 | g.41745985G>C | CA356737171 | PHOX2B | c.767C>G (p.Ala256Gly)
| |
| 4 | g.41745985G>T | CA356737170 | PHOX2B | c.767C>A (p.Ala256Glu)
| gnomAD v4 |
| 4 | g.41745989_41745990insCGCCGCCGC | CA2670427144 | PHOX2B | c.767_768insGGCGGCGGC (p.Ala256_Ala257insAlaAlaAla)
| gnomAD v4 |
| 4 | g.41745989_41745990insGGCCGCCGCCGCCGC | CA2504605725 | PHOX2B | c.767_768insGGCGGCGGCCGCGGC (p.Ala256_Ala257insAlaAlaAlaAlaAla)
| |
| 4 | g.41745987_41745989dup | CA794914303 | PHOX2B | c.765_767dup (p.Ala256_Ala257insAla)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745991_41745992insACGCCGCCGCCGCTG | CA2573137670 | PHOX2B | c.767_768insGGCGGCGTCAGCGGC (p.Ala256_Ala257insAlaAlaSerAlaAla)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41745990_41745998del | CA1139532266 | PHOX2B | c.759_767del (p.Ala254_Ala256del)
| |
| 4 | g.41745996_41746010dup | CA501224 | PHOX2B | c.753_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41745996_41746010del | CA2901434 | PHOX2B | c.753_767del (p.Ala252_Ala256del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745990_41746016del | CA551141165 | PHOX2B | c.741_767del (p.Ala248_Ala256del)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745990_41746019dup | CA2580071000 | PHOX2B | c.738_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar |
| 4 | g.41745993_41746025dup | CA2580070999 | PHOX2B | c.735_767dup (p.Ala256_Ala257insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
| ClinVar |
| 4 | g.41745993_41746025del | CA2901433 | PHOX2B | c.735_767del (p.Ala246_Ala256del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745986C>A | CA356737173 | PHOX2B | c.766G>T (p.Ala256Ser)
| gnomAD v4 |
| 4 | g.41745986C>G | CA356737174 | PHOX2B | c.766G>C (p.Ala256Pro)
| gnomAD v4 |
| 4 | g.41745986C>T | CA2901435 | PHOX2B | c.766G>A (p.Ala256Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745987C>A | CA439143004 | PHOX2B | c.765G>T (p.Ala255=)
| gnomAD v4 |
| 4 | g.41745987C>G | CA439143005 | PHOX2B | c.765G>C (p.Ala255=)
| ClinVar |
| 4 | g.41745987C>T | CA95828436 | PHOX2B | c.765G>A (p.Ala255=)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745989_41746011del | CA2670427145 | PHOX2B | c.743_765del (p.Ala248GlyfsTer?)
| gnomAD v4 |
| 4 | g.41745988G>A | CA356737177 | PHOX2B | c.764C>T (p.Ala255Val)
| gnomAD v4 |
| 4 | g.41745988G>C | CA356737175 | PHOX2B | c.764C>G (p.Ala255Gly)
| |
| 4 | g.41745988G>T | CA356737176 | PHOX2B | c.764C>A (p.Ala255Glu)
| ClinVar gnomAD v4 COSMIC |
| 4 | g.41745990_41745992del | CA2670427146 | PHOX2B | c.762_764del (p.Ala255del)
| gnomAD v4 |
| 4 | g.41745990_41746007del | CA2901436 | PHOX2B | c.747_764del (p.Ala250_Ala255del)
| dbSNP ExAC |
| 4 | g.41745990_41746013del | CA2695239079 | PHOX2B | c.741_764del (p.Ala248_Ala255del)
| |
| 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.41745989C>A | CA356737178 | PHOX2B | c.763G>T (p.Ala255Ser)
| gnomAD v4 |
| 4 | g.41745989C>G | CA356737179 | PHOX2B | c.763G>C (p.Ala255Pro)
| |
| 4 | g.41745989C>T | CA356737180 | PHOX2B | c.763G>A (p.Ala255Thr)
| |
| 4 | g.41745990del | CA2578074973 | PHOX2B | c.762del (p.Ala255ArgfsTer?)
| gnomAD v4 |
| 4 | g.41745990T>A | CA439143011 | PHOX2B | c.762A>T (p.Ala254=)
| gnomAD v4 |
| 4 | g.41745990T>C | CA439143007 | PHOX2B | c.762A>G (p.Ala254=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745990T>G | CA177628 | PHOX2B | c.762A>C (p.Ala254=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745990T= | CA2573049304 | PHOX2B | c.762A= (p.Ala254=)
| |
| 4 | g.41745991G>A | CA356737183 | PHOX2B | c.761C>T (p.Ala254Val)
| ClinVar gnomAD v4 |
| 4 | g.41745991G>C | CA356737182 | PHOX2B | c.761C>G (p.Ala254Gly)
| gnomAD v4 |
| 4 | g.41745991G>T | CA356737181 | PHOX2B | c.761C>A (p.Ala254Glu)
| gnomAD v4 |
| 4 | g.41745998_41745999insTGCCGCGGCCGCCGC | CA2561460287 | PHOX2B | c.761_762insCGCGGCAGCGGCGGC (p.Ala254_Ala255insAlaAlaAlaAlaAla)
| |
| 4 | g.41746002_41746004dup | CA95828446 | PHOX2B | c.759_761dup (p.Ala254_Ala255insAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745999_41746004dup | CA794914330 | PHOX2B | c.756_761dup (p.Ala254_Ala255insAlaAla)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745996_41746004dup | CA1061554580 | PHOX2B | c.753_761dup (p.Ala254_Ala255insAlaAlaAla)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41746002_41746004del | CA551141167 | PHOX2B | c.759_761del (p.Ala254del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745999_41746004del | CA551141166 | PHOX2B | c.756_761del (p.Ala253_Ala254del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745996_41746004del | CA2670427147 | PHOX2B | c.753_761del (p.Ala252_Ala254del)
| gnomAD v4 |
| 4 | g.41746002_41746022dup | CA2580071004 | PHOX2B | c.741_761dup (p.Ala254_Ala255insAlaAlaAlaAlaAlaAlaAla)
| ClinVar |
| 4 | g.41746002_41746022del | CA2901438 | PHOX2B | c.741_761del (p.Ala248_Ala254del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745999_41746022del | CA2497074303 | PHOX2B | c.738_761del (p.Ala247_Ala254del)
| dbSNP gnomAD v4 |
| 4 | g.41745996_41746022del | CA2901439 | PHOX2B | c.735_761del (p.Ala246_Ala254del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745992C>A | CA356737184 | PHOX2B | c.760G>T (p.Ala254Ser)
| gnomAD v4 |
| 4 | g.41745992C>G | CA356737185 | PHOX2B | c.760G>C (p.Ala254Pro)
| |
| 4 | g.41745992C>T | CA2901440 | PHOX2B | c.760G>A (p.Ala254Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745992_41745993del | CA2670427148 | PHOX2B | c.759_760del (p.Ala254SerfsTer?)
| gnomAD v4 |
| 4 | g.41745993del | CA551141168 | PHOX2B | c.760del (p.Ala254GlnfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745993C>A | CA439143024 | PHOX2B | c.759G>T (p.Ala253=)
| gnomAD v4 |
| 4 | g.41745993C>G | CA439143020 | PHOX2B | c.759G>C (p.Ala253=)
| ClinVar gnomAD v2 gnomAD v4 |
| 4 | g.41745993C>T | CA95828452 | PHOX2B | c.759G>A (p.Ala253=)
| ClinVar dbSNP 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.41745994G>A | CA356737186 | PHOX2B | c.758C>T (p.Ala253Val)
| gnomAD v4 |
| 4 | g.41745994G>C | CA356737187 | PHOX2B | c.758C>G (p.Ala253Gly)
| |
| 4 | g.41745994G>T | CA356737188 | PHOX2B | c.758C>A (p.Ala253Glu)
| gnomAD v4 |
| 4 | g.41745995_41745996insGGC | CA1061554608 | PHOX2B | c.758_759insCGC (p.Ala253_Ala254insAla)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745995_41745996insTGC | CA2670427149 | PHOX2B | c.758_759insAGC (p.Ala253_Ala254insAla)
| gnomAD v4 |
| 4 | g.41745998_41745999insGGCCGC | CA2578074974 | PHOX2B | c.758_759insCGCGGC (p.Ala253_Ala254insAlaAla)
| gnomAD v4 |
| 4 | g.41745999_41746010del | CA2670427150 | PHOX2B | c.747_758del (p.Ala250_Ala253del)
| gnomAD v4 |
| 4 | g.41746008_41746025dup | CA1139658466 | PHOX2B | c.741_758dup (p.Ala253_Ala254insAlaAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41746008_41746025del | CA2901441 | PHOX2B | c.741_758del (p.Ala248_Ala253del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745995C>A | CA356737189 | PHOX2B | c.757G>T (p.Ala253Ser)
| gnomAD v4 |
| 4 | g.41745995C>G | CA356737191 | PHOX2B | c.757G>C (p.Ala253Pro)
| |
| 4 | g.41745995C>T | CA356737190 | PHOX2B | c.757G>A (p.Ala253Thr)
| gnomAD v4 |
| 4 | g.41745995_41745996insTG | CA551141169 | PHOX2B | c.756_757insCA (p.Ala253GlnfsTer?)
| dbSNP gnomAD v2 |
| 4 | g.41745996C>A | CA439143030 | PHOX2B | c.756G>T (p.Ala252=)
| dbSNP gnomAD v4 |
| 4 | g.41745996C>G | CA439143029 | PHOX2B | c.756G>C (p.Ala252=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.41745996C>T | CA2901442 | PHOX2B | c.756G>A (p.Ala252=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746003_41746037del | CA645526518 | PHOX2B | c.722_756del (p.Ala241GlyfsTer?)
| COSMIC |
| 4 | g.41745997G>A | CA356737192 | PHOX2B | c.755C>T (p.Ala252Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.41745997G>C | CA356737193 | PHOX2B | c.755C>G (p.Ala252Gly)
| dbSNP gnomAD v4 |
| 4 | g.41745997G>T | CA356737194 | PHOX2B | c.755C>A (p.Ala252Glu)
| gnomAD v4 |
| 4 | g.41746002_41746010del | CA2670427151 | PHOX2B | c.747_755del (p.Ala250_Ala252del)
| gnomAD v4 |
| 4 | g.41746005_41746019dup | CA915943035 | PHOX2B | c.741_755dup (p.Ala252_Ala253insAlaAlaAlaAlaAla)
| ClinVar dbSNP |
| 4 | g.41746005_41746019del | CA202339 | PHOX2B | c.741_755del (p.Ala248_Ala252del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41745999_41746025del | CA2901443 | PHOX2B | c.729_755del (p.Ala244_Ala252del)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41745998C>A | CA356737195 | PHOX2B | c.754G>T (p.Ala252Ser)
| gnomAD v4 |
| 4 | g.41745998C>G | CA356737196 | PHOX2B | c.754G>C (p.Ala252Pro)
| |
| 4 | g.41745998C>T | CA356737197 | PHOX2B | c.754G>A (p.Ala252Thr)
| ClinVar gnomAD v4 |
| 4 | g.41745999_41746000insACC | CA2670427152 | PHOX2B | c.754_755insTGG (p.Ala251_Ala252insVal)
| gnomAD v4 |
| 4 | g.41745999C>A | CA439143039 | PHOX2B | c.753G>T (p.Ala251=)
| gnomAD v4 |
| 4 | g.41745999C>G | CA439143041 | PHOX2B | c.753G>C (p.Ala251=)
| ClinVar |
| 4 | g.41745999C>T | CA2901444 | PHOX2B | c.753G>A (p.Ala251=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746000G>A | CA356737198 | PHOX2B | c.752C>T (p.Ala251Val)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41746000G>C | CA356737199 | PHOX2B | c.752C>G (p.Ala251Gly)
| gnomAD v4 |
| 4 | g.41746000G>T | CA356737200 | PHOX2B | c.752C>A (p.Ala251Glu)
| gnomAD v4 |
| 4 | g.41746005_41746010dup | CA2497074304 | PHOX2B | c.747_752dup (p.Ala251_Ala252insAlaAla)
| dbSNP gnomAD v4 |
| 4 | g.41746005_41746016del | CA794914401 | PHOX2B | c.741_752del (p.Ala248_Ala251del)
| dbSNP gnomAD v4 |
| 4 | g.41746001C>A | CA356737201 | PHOX2B | c.751G>T (p.Ala251Ser)
| ClinVar gnomAD v4 |
| 4 | g.41746001C>G | CA356737203 | PHOX2B | c.751G>C (p.Ala251Pro)
| |
| 4 | g.41746001C>T | CA356737202 | PHOX2B | c.751G>A (p.Ala251Thr)
| |
| 4 | g.41746002C>A | CA439143048 | PHOX2B | c.750G>T (p.Ala250=)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41746002C>G | CA439143050 | PHOX2B | c.750G>C (p.Ala250=)
| ClinVar gnomAD v4 |
| 4 | g.41746002C>T | CA2901446 | PHOX2B | c.750G>A (p.Ala250=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746003G>A | CA356737204 | PHOX2B | c.749C>T (p.Ala250Val)
| gnomAD v4 |
| 4 | g.41746003G>C | CA2901447 | PHOX2B | c.749C>G (p.Ala250Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.41746003G>T | CA356737205 | PHOX2B | c.749C>A (p.Ala250Glu)
| ClinVar dbSNP gnomAD v4 |
| 4 | g.41746005_41746007dup | CA2670427153 | PHOX2B | c.747_749dup (p.Ala250_Ala251insAla)
| gnomAD v4 |
| 4 | g.41746005_41746007del | CA2497074305 | PHOX2B | c.747_749del (p.Ala250del)
| dbSNP gnomAD v4 |
| 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.41746004C>A | CA356737206 | PHOX2B | c.748G>T (p.Ala250Ser)
| gnomAD v4 |
| 4 | g.41746004C>G | CA356737207 | PHOX2B | c.748G>C (p.Ala250Pro)
| dbSNP |
| 4 | g.41746004C>T | CA356737208 | PHOX2B | c.748G>A (p.Ala250Thr)
| |
| 4 | g.41746005T>A | CA439143056 | PHOX2B | c.747A>T (p.Ala249=)
| ClinVar |
| 4 | g.41746005T>C | CA439143058 | PHOX2B | c.747A>G (p.Ala249=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.41746005T>G | CA439143059 | PHOX2B | c.747A>C (p.Ala249=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.41746010_41746044del | CA2586973797 | PHOX2B | c.713_747del (p.Lys238SerfsTer?)
| |
