Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.45508869_45508882delinsGGATAGAGGTGCCA | CA2473783680 | MMACHC | c.503_516delinsGGATAGAGGTGCCA (p.Gly168=) c.332_345delinsGGATAGAGGTGCCA (p.Gly111=) c.308_321delinsGGATAGAGGTGCCA (p.Gly103=) | |
1 | g.45508870_45508883del | CA913075174 | MMACHC | c.504_517del (p.Ile169SerfsTer8) c.333_346del (p.Ile112SerfsTer8) c.309_322del (p.Ile104SerfsTer8) | |
1 | g.45508873_45508885del | CA658821029 | MMACHC | c.507_519del (p.Glu170CysfsTer?) c.336_348del (p.Glu113CysfsTer?) c.312_324del (p.Glu105CysfsTer?) | ClinVar dbSNP |
1 | g.45508882A>C | CA417881366 | MMACHC | c.516A>C (p.Pro172=) c.345A>C (p.Pro115=) c.321A>C (p.Pro107=) | |
1 | g.45508882A>G | CA417881367 | MMACHC | c.516A>G (p.Pro172=) c.345A>G (p.Pro115=) c.321A>G (p.Pro107=) | gnomAD v4 |
1 | g.45508882A>T | CA417881368 | MMACHC | c.516A>T (p.Pro172=) c.345A>T (p.Pro115=) c.321A>T (p.Pro107=) | |
1 | g.45508883G>A | CA827777 | MMACHC | c.517G>A (p.Asp173Asn) c.346G>A (p.Asp116Asn) c.322G>A (p.Asp108Asn) | dbSNP ExAC gnomAD v2 |
1 | g.45508883G>C | CA340133281 | MMACHC | c.517G>C (p.Asp173His) c.346G>C (p.Asp116His) c.322G>C (p.Asp108His) | gnomAD v4 |
1 | g.45508883G= | CA2473783686 | MMACHC | c.517G= (p.Asp173=) c.346G= (p.Asp116=) c.322G= (p.Asp108=) | |
1 | g.45508883G>T | CA340133283 | MMACHC | c.517G>T (p.Asp173Tyr) c.346G>T (p.Asp116Tyr) c.322G>T (p.Asp108Tyr) | |
1 | g.45508884A>C | CA340133285 | MMACHC | c.518A>C (p.Asp173Ala) c.347A>C (p.Asp116Ala) c.323A>C (p.Asp108Ala) | |
1 | g.45508884A>G | CA340133287 | MMACHC | c.518A>G (p.Asp173Gly) c.347A>G (p.Asp116Gly) c.323A>G (p.Asp108Gly) | |
1 | g.45508884A>T | CA340133289 | MMACHC | c.518A>T (p.Asp173Val) c.347A>T (p.Asp116Val) c.323A>T (p.Asp108Val) | |
1 | g.45508885T>A | CA340133291 | MMACHC | c.519T>A (p.Asp173Glu) c.348T>A (p.Asp116Glu) c.324T>A (p.Asp108Glu) | |
1 | g.45508885T>C | CA417881372 | MMACHC | c.519T>C (p.Asp173=) c.348T>C (p.Asp116=) c.324T>C (p.Asp108=) | gnomAD v4 |
1 | g.45508885T>G | CA340133293 | MMACHC | c.519T>G (p.Asp173Glu) c.348T>G (p.Asp116Glu) c.324T>G (p.Asp108Glu) | |
1 | g.45508886C>A | CA340133297 | MMACHC | c.520C>A (p.Leu174Met) c.349C>A (p.Leu117Met) c.325C>A (p.Leu109Met) | |
1 | g.45508886C= | CA2473783687 | MMACHC | c.520C= (p.Leu174=) c.349C= (p.Leu117=) c.325C= (p.Leu109=) | |
1 | g.45508886C>G | CA340133295 | MMACHC | c.520C>G (p.Leu174Val) c.349C>G (p.Leu117Val) c.325C>G (p.Leu109Val) | |
1 | g.45508886C>T | CA417881374 | MMACHC | c.520C>T (p.Leu174=) c.349C>T (p.Leu117=) c.325C>T (p.Leu109=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.45508887T>A | CA340133299 | MMACHC | c.521T>A (p.Leu174Gln) c.350T>A (p.Leu117Gln) c.326T>A (p.Leu109Gln) | |
1 | g.45508887T>C | CA340133302 | MMACHC | c.521T>C (p.Leu174Pro) c.350T>C (p.Leu117Pro) c.326T>C (p.Leu109Pro) | |
1 | g.45508887T>G | CA340133300 | MMACHC | c.521T>G (p.Leu174Arg) c.350T>G (p.Leu117Arg) c.326T>G (p.Leu109Arg) | |
1 | g.45508888G>A | CA417881377 | MMACHC | c.522G>A (p.Leu174=) c.351G>A (p.Leu117=) c.327G>A (p.Leu109=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.45508888G>C | CA417881379 | MMACHC | c.522G>C (p.Leu174=) c.351G>C (p.Leu117=) c.327G>C (p.Leu109=) | |
1 | g.45508888G= | CA2473783688 | MMACHC | c.522G= (p.Leu174=) c.351G= (p.Leu117=) c.327G= (p.Leu109=) | |
1 | g.45508888G>T | CA417881380 | MMACHC | c.522G>T (p.Leu174=) c.351G>T (p.Leu117=) c.327G>T (p.Leu109=) | |
1 | g.45508889C>A | CA340133304 | MMACHC | c.523C>A (p.Pro175Thr) c.352C>A (p.Pro118Thr) c.328C>A (p.Pro110Thr) | gnomAD v4 |
1 | g.45508889C= | CA2473783689 | MMACHC | c.523C= (p.Pro175=) c.352C= (p.Pro118=) c.328C= (p.Pro110=) | |
1 | g.45508889C>G | CA340133305 | MMACHC | c.523C>G (p.Pro175Ala) c.352C>G (p.Pro118Ala) c.328C>G (p.Pro110Ala) | |
1 | g.45508889C>T | CA827778 | MMACHC | c.523C>T (p.Pro175Ser) c.352C>T (p.Pro118Ser) c.328C>T (p.Pro110Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508890C>A | CA340133308 | MMACHC | c.524C>A (p.Pro175Gln) c.353C>A (p.Pro118Gln) c.329C>A (p.Pro110Gln) | |
1 | g.45508890C= | CA2473783690 | MMACHC | c.524C= (p.Pro175=) c.353C= (p.Pro118=) c.329C= (p.Pro110=) | |
1 | g.45508890C>G | CA340133309 | MMACHC | c.524C>G (p.Pro175Arg) c.353C>G (p.Pro118Arg) c.329C>G (p.Pro110Arg) | |
1 | g.45508890C>T | CA827779 | MMACHC | c.524C>T (p.Pro175Leu) c.353C>T (p.Pro118Leu) c.329C>T (p.Pro110Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.45508891A>C | CA417881383 | MMACHC | c.525A>C (p.Pro175=) c.354A>C (p.Pro118=) c.330A>C (p.Pro110=) | |
1 | g.45508891A>G | CA417881384 | MMACHC | c.525A>G (p.Pro175=) c.354A>G (p.Pro118=) c.330A>G (p.Pro110=) | |
1 | g.45508891A>T | CA417881385 | MMACHC | c.525A>T (p.Pro175=) c.354A>T (p.Pro118=) c.330A>T (p.Pro110=) | |
1 | g.45508892C>A | CA340133313 | MMACHC | c.526C>A (p.Pro176Thr) c.355C>A (p.Pro119Thr) c.331C>A (p.Pro111Thr) | |
1 | g.45508892C= | CA2473783691 | MMACHC | c.526C= (p.Pro176=) c.355C= (p.Pro119=) c.331C= (p.Pro111=) | |
1 | g.45508892C>G | CA340133315 | MMACHC | c.526C>G (p.Pro176Ala) c.355C>G (p.Pro119Ala) c.331C>G (p.Pro111Ala) | |
1 | g.45508892C>T | CA21829704 | MMACHC | c.526C>T (p.Pro176Ser) c.355C>T (p.Pro119Ser) c.331C>T (p.Pro111Ser) | dbSNP gnomAD v4 |
1 | g.45508893C>A | CA340133317 | MMACHC | c.527C>A (p.Pro176His) c.356C>A (p.Pro119His) c.332C>A (p.Pro111His) | |
1 | g.45508893C= | CA2473783692 | MMACHC | c.527C= (p.Pro176=) c.356C= (p.Pro119=) c.332C= (p.Pro111=) | |
1 | g.45508893C>G | CA340133319 | MMACHC | c.527C>G (p.Pro176Arg) c.356C>G (p.Pro119Arg) c.332C>G (p.Pro111Arg) | |
1 | g.45508893C>T | CA21829708 | MMACHC | c.527C>T (p.Pro176Leu) c.356C>T (p.Pro119Leu) c.332C>T (p.Pro111Leu) | dbSNP gnomAD v4 |
1 | g.45508894C>A | CA417881387 | MMACHC | c.528C>A (p.Pro176=) c.357C>A (p.Pro119=) c.333C>A (p.Pro111=) | |
1 | g.45508894C>G | CA417881388 | MMACHC | c.528C>G (p.Pro176=) c.357C>G (p.Pro119=) c.333C>G (p.Pro111=) | |
1 | g.45508894C>T | CA417881389 | MMACHC | c.528C>T (p.Pro176=) c.357C>T (p.Pro119=) c.333C>T (p.Pro111=) | |
1 | g.45508895A= | CA2473783693 | MMACHC | c.529A= (p.Arg177=) c.358A= (p.Arg120=) c.334A= (p.Arg112=) |