Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.149570089A=CA1297264311MMADHCc.776T= (p.Leu259=)
c.878T= (p.Leu293=)
2g.149570089A>CCA348869189MMADHCc.776T>G (p.Leu259Arg)
c.878T>G (p.Leu293Arg)
2g.149570089A>GCA114486MMADHCc.776T>C (p.Leu259Pro)
c.878T>C (p.Leu293Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.149570089A>TCA348869193MMADHCc.776T>A (p.Leu259His)
c.878T>A (p.Leu293His)
2g.149570090G>ACA1902263MMADHCc.775C>T (p.Leu259Phe)
c.877C>T (p.Leu293Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.149570090G>CCA1902264MMADHCc.775C>G (p.Leu259Val)
c.877C>G (p.Leu293Val)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.149570090G=CA1297264312MMADHCc.775C= (p.Leu259=)
c.877C= (p.Leu293=)
2g.149570090G>TCA348869197MMADHCc.775C>A (p.Leu259Ile)
c.877C>A (p.Leu293Ile)
2g.149570091G>ACA429405922MMADHCc.774C>T (p.Asp258=)
c.876C>T (p.Asp292=)
2g.149570091G>CCA348869201MMADHCc.774C>G (p.Asp258Glu)
c.876C>G (p.Asp292Glu)
2g.149570091G=CA1297264313MMADHCc.774C= (p.Asp258=)
c.876C= (p.Asp292=)
2g.149570091G>TCA58332357MMADHCc.774C>A (p.Asp258Glu)
c.876C>A (p.Asp292Glu)
 dbSNP
2g.149570092T>ACA348869205MMADHCc.773A>T (p.Asp258Val)
c.875A>T (p.Asp292Val)
2g.149570092T>CCA348869207MMADHCc.773A>G (p.Asp258Gly)
c.875A>G (p.Asp292Gly)
2g.149570092T>GCA348869210MMADHCc.773A>C (p.Asp258Ala)
c.875A>C (p.Asp292Ala)
2g.149570093C>ACA348869213MMADHCc.772G>T (p.Asp258Tyr)
c.874G>T (p.Asp292Tyr)
2g.149570093C>GCA348869216MMADHCc.772G>C (p.Asp258His)
c.874G>C (p.Asp292His)
2g.149570093C>TCA348869212MMADHCc.772G>A (p.Asp258Asn)
c.874G>A (p.Asp292Asn)
2g.149570094A>CCA348869218MMADHCc.771T>G (p.Asp257Glu)
c.873T>G (p.Asp291Glu)
2g.149570094A>GCA429405923MMADHCc.771T>C (p.Asp257=)
c.873T>C (p.Asp291=)
2g.149570094A>TCA348869220MMADHCc.771T>A (p.Asp257Glu)
c.873T>A (p.Asp291Glu)
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)

Number of alleles fetched