Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.41746023_41746081del | CA2695199371 | PHOX2B | c.671_729del (p.Pro224ArgfsTer?) | ClinVar |
4 | g.41746047_41746095del | CA2586973800 | PHOX2B | c.663_711del (p.Gly222ArgfsTer?) n.484_532del | |
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.41746067_41746082dup | CA2586973808 | PHOX2B | c.678_693dup (p.Pro232GlyfsTer?) n.499_514dup | |
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.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 | |
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 |