Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570091_149570106delCA2752638764MMADHCc.759_774del (p.Phe254LeufsTer6)
c.861_876del (p.Phe288LeufsTer6)
2g.149570095T>ACA348869222MMADHCc.770A>T (p.Asp257Val)
c.872A>T (p.Asp291Val)
2g.149570095T>CCA348869224MMADHCc.770A>G (p.Asp257Gly)
c.872A>G (p.Asp291Gly)
 gnomAD v4
2g.149570095T>GCA348869227MMADHCc.770A>C (p.Asp257Ala)
c.872A>C (p.Asp291Ala)
2g.149570096C>ACA1902265MMADHCc.769G>T (p.Asp257Tyr)
c.871G>T (p.Asp291Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570096C=CA1297264314MMADHCc.769G= (p.Asp257=)
c.871G= (p.Asp291=)
2g.149570096C>GCA58332358MMADHCc.769G>C (p.Asp257His)
c.871G>C (p.Asp291His)
 dbSNP gnomAD v3 gnomAD v4
2g.149570096C>TCA348869229MMADHCc.769G>A (p.Asp257Asn)
c.871G>A (p.Asp291Asn)
2g.149570097A>CCA429405924MMADHCc.768T>G (p.Val256=)
c.870T>G (p.Val290=)
2g.149570097A>GCA429405925MMADHCc.768T>C (p.Val256=)
c.870T>C (p.Val290=)
2g.149570097A>TCA429405926MMADHCc.768T>A (p.Val256=)
c.870T>A (p.Val290=)
2g.149570098A=CA1297264315MMADHCc.767T= (p.Val256=)
c.869T= (p.Val290=)
2g.149570098A>CCA348869233MMADHCc.767T>G (p.Val256Gly)
c.869T>G (p.Val290Gly)
2g.149570098A>GCA348869235MMADHCc.767T>C (p.Val256Ala)
c.869T>C (p.Val290Ala)
 dbSNP
2g.149570098A>TCA348869237MMADHCc.767T>A (p.Val256Asp)
c.869T>A (p.Val290Asp)
2g.149570099C>ACA348869239MMADHCc.766G>T (p.Val256Phe)
c.868G>T (p.Val290Phe)
2g.149570099C=CA1297264316MMADHCc.766G= (p.Val256=)
c.868G= (p.Val290=)
2g.149570099C>GCA348869241MMADHCc.766G>C (p.Val256Leu)
c.868G>C (p.Val290Leu)
 ClinVar gnomAD v4
2g.149570099C>TCA1902266MMADHCc.766G>A (p.Val256Ile)
c.868G>A (p.Val290Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570100A=CA1297264317MMADHCc.765T= (p.Ser255=)
c.867T= (p.Ser289=)
2g.149570100A>CCA429405927MMADHCc.765T>G (p.Ser255=)
c.867T>G (p.Ser289=)
2g.149570100A>GCA1902267MMADHCc.765T>C (p.Ser255=)
c.867T>C (p.Ser289=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570100A>TCA429405928MMADHCc.765T>A (p.Ser255=)
c.867T>A (p.Ser289=)
2g.149570103_149570104delCA2580611694MMADHCc.764_765del (p.Ser255CysfsTer2)
c.866_867del (p.Ser289CysfsTer2)
 ClinVar dbSNP
2g.149570101G>ACA348869246MMADHCc.764C>T (p.Ser255Phe)
c.866C>T (p.Ser289Phe)
2g.149570101G>CCA1902268MMADHCc.764C>G (p.Ser255Cys)
c.866C>G (p.Ser289Cys)
 ClinVar dbSNP ExAC gnomAD v4
2g.149570101G=CA1297264318MMADHCc.764C= (p.Ser255=)
c.866C= (p.Ser289=)
2g.149570101G>TCA348869248MMADHCc.764C>A (p.Ser255Tyr)
c.866C>A (p.Ser289Tyr)
2g.149570102A>CCA348869251MMADHCc.763T>G (p.Ser255Ala)
c.865T>G (p.Ser289Ala)
2g.149570102A>GCA348869252MMADHCc.763T>C (p.Ser255Pro)
c.865T>C (p.Ser289Pro)
2g.149570102A>TCA348869255MMADHCc.763T>A (p.Ser255Thr)
c.865T>A (p.Ser289Thr)
2g.149570103G>ACA429405929MMADHCc.762C>T (p.Phe254=)
c.864C>T (p.Phe288=)
2g.149570103G>CCA348869257MMADHCc.762C>G (p.Phe254Leu)
c.864C>G (p.Phe288Leu)
 gnomAD v4
2g.149570103G=CA1297264319MMADHCc.762C= (p.Phe254=)
c.864C= (p.Phe288=)
2g.149570103G>TCA1902269MMADHCc.762C>A (p.Phe254Leu)
c.864C>A (p.Phe288Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570104A=CA1297264320MMADHCc.761T= (p.Phe254=)
c.863T= (p.Phe288=)
2g.149570104A>CCA348869261MMADHCc.761T>G (p.Phe254Cys)
c.863T>G (p.Phe288Cys)
 dbSNP gnomAD v4
2g.149570104A>GCA348869263MMADHCc.761T>C (p.Phe254Ser)
c.863T>C (p.Phe288Ser)
2g.149570104A>TCA348869266MMADHCc.761T>A (p.Phe254Tyr)
c.863T>A (p.Phe288Tyr)
 gnomAD v4
2g.149570105A>CCA348869268MMADHCc.760T>G (p.Phe254Val)
c.862T>G (p.Phe288Val)
2g.149570105A>GCA348869270MMADHCc.760T>C (p.Phe254Leu)
c.862T>C (p.Phe288Leu)
2g.149570105A>TCA348869273MMADHCc.760T>A (p.Phe254Ile)
c.862T>A (p.Phe288Ile)
2g.149570106T>ACA10611311MMADHCc.759A>T (p.Gly253=)
c.861A>T (p.Gly287=)
 ClinVar dbSNP gnomAD v2
2g.149570106T>CCA429405930MMADHCc.759A>G (p.Gly253=)
c.861A>G (p.Gly287=)
 COSMIC
2g.149570106T>GCA429405931MMADHCc.759A>C (p.Gly253=)
c.861A>C (p.Gly287=)
2g.149570106T=CA1297264321MMADHCc.759A= (p.Gly253=)
c.861A= (p.Gly287=)
2g.149570107C>ACA348869276MMADHCc.758G>T (p.Gly253Val)
c.860G>T (p.Gly287Val)
2g.149570107C>GCA348869280MMADHCc.758G>C (p.Gly253Ala)
c.860G>C (p.Gly287Ala)
2g.149570107C>TCA348869278MMADHCc.758G>A (p.Gly253Glu)
c.860G>A (p.Gly287Glu)
2g.149570108C>ACA348869281MMADHCc.757G>T (p.Gly253Ter)
c.859G>T (p.Gly287Ter)

Number of alleles fetched