Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.41746158_41746166del | CA2670427176 | PHOX2B | c.588_596del (p.Gly197_Gly199del) n.409_417del | 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 | 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 |