| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.78117367G>A | CA413721160 | PGK1 | c.473G>A (p.Gly158Glu) c.389G>A (p.Gly130Glu) n.465G>A | |
| X | g.78117367G>C | CA413721163 | PGK1 | c.473G>C (p.Gly158Ala) c.389G>C (p.Gly130Ala) n.465G>C | |
| X | g.78117367G= | CA2439138328 | PGK1 | c.473G= (p.Gly158=) c.389G= (p.Gly130=) n.465G= | |
| X | g.78117367G>T | CA120825 | PGK1 | c.473G>T (p.Gly158Val) c.389G>T (p.Gly130Val) n.465G>T | ClinVar dbSNP |
| X | g.78117368G>A | CA10459708 | PGK1 | c.474G>A (p.Gly158=) c.390G>A (p.Gly130=) n.466G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117368G>C | CA517379798 | PGK1 | c.474G>C (p.Gly158=) c.390G>C (p.Gly130=) n.466G>C | |
| X | g.78117368G= | CA2439138329 | PGK1 | c.474G= (p.Gly158=) c.390G= (p.Gly130=) n.466G= | |
| X | g.78117368G>T | CA517379797 | PGK1 | c.474G>T (p.Gly158=) c.390G>T (p.Gly130=) n.466G>T | |
| X | g.78117369G>A | CA413721168 | PGK1 | c.475G>A (p.Asp159Asn) c.391G>A (p.Asp131Asn) n.467G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117369G>C | CA413721170 | PGK1 | c.475G>C (p.Asp159His) c.391G>C (p.Asp131His) n.467G>C | |
| X | g.78117369G= | CA2439138330 | PGK1 | c.475G= (p.Asp159=) c.391G= (p.Asp131=) n.467G= | |
| X | g.78117369G>T | CA413721166 | PGK1 | c.475G>T (p.Asp159Tyr) c.391G>T (p.Asp131Tyr) n.467G>T | |
| X | g.78117370A= | CA2439138331 | PGK1 | c.476A= (p.Asp159=) c.392A= (p.Asp131=) n.468A= | |
| X | g.78117370A>C | CA413721172 | PGK1 | c.476A>C (p.Asp159Ala) c.392A>C (p.Asp131Ala) n.468A>C | |
| X | g.78117370A>G | CA413721173 | PGK1 | c.476A>G (p.Asp159Gly) c.392A>G (p.Asp131Gly) n.468A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.78117370A>T | CA413721175 | PGK1 | c.476A>T (p.Asp159Val) c.392A>T (p.Asp131Val) n.468A>T | |
| X | g.78117371T>A | CA10459709 | PGK1 | c.477T>A (p.Asp159Glu) c.393T>A (p.Asp131Glu) n.469T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78117371T>C | CA517379802 | PGK1 | c.477T>C (p.Asp159=) c.393T>C (p.Asp131=) n.469T>C | gnomAD v4 |
| X | g.78117371T>G | CA413721178 | PGK1 | c.477T>G (p.Asp159Glu) c.393T>G (p.Asp131Glu) n.469T>G | |
| X | g.78117371T= | CA2439138332 | PGK1 | c.477T= (p.Asp159=) c.393T= (p.Asp131=) n.469T= | |
| X | g.78117372G>A | CA413721185 | PGK1 | c.478G>A (p.Val160Ile) c.394G>A (p.Val132Ile) n.470G>A | gnomAD v4 |
| X | g.78117372G>C | CA413721183 | PGK1 | c.478G>C (p.Val160Leu) c.394G>C (p.Val132Leu) n.470G>C | |
| X | g.78117372G>T | CA413721181 | PGK1 | c.478G>T (p.Val160Phe) c.394G>T (p.Val132Phe) n.470G>T | |
| X | g.78117373T>A | CA413721187 | PGK1 | c.479T>A (p.Val160Asp) c.395T>A (p.Val132Asp) n.471T>A | |
| X | g.78117373T>C | CA413721189 | PGK1 | c.479T>C (p.Val160Ala) c.395T>C (p.Val132Ala) n.471T>C | gnomAD v4 |
| X | g.78117373T>G | CA10459710 | PGK1 | c.479T>G (p.Val160Gly) c.395T>G (p.Val132Gly) n.471T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.78117373T= | CA2439138333 | PGK1 | c.479T= (p.Val160=) c.395T= (p.Val132=) n.471T= | |
| X | g.78117374C>A | CA517379803 | PGK1 | c.480C>A (p.Val160=) c.396C>A (p.Val132=) n.472C>A | |
| X | g.78117374C>G | CA517379806 | PGK1 | c.480C>G (p.Val160=) c.396C>G (p.Val132=) n.472C>G | |
| X | g.78117374C>T | CA517379804 | PGK1 | c.480C>T (p.Val160=) c.396C>T (p.Val132=) n.472C>T | |
| X | g.78117375del | CA2579650735 | PGK1 | c.481del (p.Tyr161MetfsTer17) c.397del (p.Tyr133MetfsTer17) n.473del | |
| X | g.78117375T>A | CA413721192 | PGK1 | c.481T>A (p.Tyr161Asn) c.397T>A (p.Tyr133Asn) n.473T>A | |
| X | g.78117375T>C | CA413721194 | PGK1 | c.481T>C (p.Tyr161His) c.397T>C (p.Tyr133His) n.473T>C | |
| X | g.78117375T>G | CA413721196 | PGK1 | c.481T>G (p.Tyr161Asp) c.397T>G (p.Tyr133Asp) n.473T>G | |
| X | g.78117376A= | CA2439138334 | PGK1 | c.482A= (p.Tyr161=) c.398A= (p.Tyr133=) n.474A= | |
| X | g.78117376A>C | CA413721198 | PGK1 | c.482A>C (p.Tyr161Ser) c.398A>C (p.Tyr133Ser) n.474A>C | |
| X | g.78117376A>G | CA10459711 | PGK1 | c.482A>G (p.Tyr161Cys) c.398A>G (p.Tyr133Cys) n.474A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.78117376A>T | CA413721200 | PGK1 | c.482A>T (p.Tyr161Phe) c.398A>T (p.Tyr133Phe) n.474A>T | |
| X | g.78117377T>A | CA413721203 | PGK1 | c.483T>A (p.Tyr161Ter) c.399T>A (p.Tyr133Ter) n.475T>A | |
| X | g.78117377T>C | CA517379809 | PGK1 | c.483T>C (p.Tyr161=) c.399T>C (p.Tyr133=) n.475T>C | |
| X | g.78117377T>G | CA413721204 | PGK1 | c.483T>G (p.Tyr161Ter) c.399T>G (p.Tyr133Ter) n.475T>G | |
| X | g.78117378G>A | CA413721206 | PGK1 | c.484G>A (p.Val162Ile) c.400G>A (p.Val134Ile) n.476G>A | |
| X | g.78117378G>C | CA413721208 | PGK1 | c.484G>C (p.Val162Leu) c.400G>C (p.Val134Leu) n.476G>C | |
| X | g.78117378G>T | CA413721210 | PGK1 | c.484G>T (p.Val162Phe) c.400G>T (p.Val134Phe) n.476G>T | |
| X | g.78117379T>A | CA413721212 | PGK1 | c.485T>A (p.Val162Asp) c.401T>A (p.Val134Asp) n.477T>A | |
| X | g.78117379T>C | CA413721214 | PGK1 | c.485T>C (p.Val162Ala) c.401T>C (p.Val134Ala) n.477T>C | gnomAD v4 |
| X | g.78117379T>G | CA413721216 | PGK1 | c.485T>G (p.Val162Gly) c.401T>G (p.Val134Gly) n.477T>G | |
| X | g.78117380C>A | CA517379812 | PGK1 | c.486C>A (p.Val162=) c.402C>A (p.Val134=) n.478C>A | |
| X | g.78117380C= | CA2439138335 | PGK1 | c.486C= (p.Val162=) c.402C= (p.Val134=) n.478C= | |
| X | g.78117380C>G | CA331585831 | PGK1 | c.486C>G (p.Val162=) c.402C>G (p.Val134=) n.478C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |