Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.80276380_80276382delinsGGACA1922574476MAT1Ac.762_764delinsTCC (p.Gly254=)
c.639_641delinsTCC (p.Gly213=)
10g.80276381G>ACA16605940MAT1Ac.763C>T (p.Pro255Ser)
c.640C>T (p.Pro214Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80276381G>CCA377361534MAT1Ac.763C>G (p.Pro255Ala)
c.640C>G (p.Pro214Ala)
10g.80276381G=CA1922574481MAT1Ac.763C= (p.Pro255=)
c.640C= (p.Pro214=)
10g.80276381G>TCA377361535MAT1Ac.763C>A (p.Pro255Thr)
c.640C>A (p.Pro214Thr)
10g.80276381_80276382delCA668886214MAT1Ac.762_763del (p.Gln256GlyfsTer9)
c.639_640del (p.Gln215GlyfsTer9)
dbSNP
10g.80276382A>CCA470467428MAT1Ac.762T>G (p.Gly254=)
c.639T>G (p.Gly213=)
10g.80276382A>GCA470467429MAT1Ac.762T>C (p.Gly254=)
c.639T>C (p.Gly213=)
gnomAD v4
10g.80276382A>TCA470467430MAT1Ac.762T>A (p.Gly254=)
c.639T>A (p.Gly213=)
10g.80276383C>ACA377361539MAT1Ac.761G>T (p.Gly254Val)
c.638G>T (p.Gly213Val)
10g.80276383C>GCA377361541MAT1Ac.761G>C (p.Gly254Ala)
c.638G>C (p.Gly213Ala)
10g.80276383C>TCA377361544MAT1Ac.761G>A (p.Gly254Asp)
c.638G>A (p.Gly213Asp)
gnomAD v4
10g.80276384C>ACA377361555MAT1Ac.760G>T (p.Gly254Cys)
c.637G>T (p.Gly213Cys)
10g.80276384C=CA1922574487MAT1Ac.760G= (p.Gly254=)
c.637G= (p.Gly213=)
10g.80276384C>GCA377361556MAT1Ac.760G>C (p.Gly254Arg)
c.637G>C (p.Gly213Arg)
10g.80276384C>TCA377361560MAT1Ac.760G>A (p.Gly254Ser)
c.637G>A (p.Gly213Ser)
ClinVar dbSNP
10g.80276385T>ACA470467431MAT1Ac.759A>T (p.Gly253=)
c.636A>T (p.Gly212=)
10g.80276385T>CCA470467432MAT1Ac.759A>G (p.Gly253=)
c.636A>G (p.Gly212=)
10g.80276385T>GCA470467433MAT1Ac.759A>C (p.Gly253=)
c.636A>C (p.Gly212=)
10g.80276386C>ACA377361564MAT1Ac.758G>T (p.Gly253Val)
c.635G>T (p.Gly212Val)
10g.80276386C>GCA377361565MAT1Ac.758G>C (p.Gly253Ala)
c.635G>C (p.Gly212Ala)
10g.80276386C>TCA377361568MAT1Ac.758G>A (p.Gly253Glu)
c.635G>A (p.Gly212Glu)
10g.80276387C>ACA377361577MAT1Ac.757G>T (p.Gly253Ter)
c.634G>T (p.Gly212Ter)
COSMIC
10g.80276387C=CA1922574490MAT1Ac.757G= (p.Gly253=)
c.634G= (p.Gly212=)
10g.80276387C>GCA377361575MAT1Ac.757G>C (p.Gly253Arg)
c.634G>C (p.Gly212Arg)
10g.80276387C>TCA377361573MAT1Ac.757G>A (p.Gly253Arg)
c.634G>A (p.Gly212Arg)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.80276388G>ACA5576719MAT1Ac.756C>T (p.Ile252=)
c.633C>T (p.Ile211=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.80276388G>CCA377361582MAT1Ac.756C>G (p.Ile252Met)
c.633C>G (p.Ile211Met)
10g.80276388G=CA1922574492MAT1Ac.756C= (p.Ile252=)
c.633C= (p.Ile211=)
10g.80276388G>TCA5576718MAT1Ac.756C>A (p.Ile252=)
c.633C>A (p.Ile211=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276389A=CA1922574494MAT1Ac.755T= (p.Ile252=)
c.632T= (p.Ile211=)
10g.80276389A>CCA377361585MAT1Ac.755T>G (p.Ile252Ser)
c.632T>G (p.Ile211Ser)
10g.80276389A>GCA377361587MAT1Ac.755T>C (p.Ile252Thr)
c.632T>C (p.Ile211Thr)
ClinVar dbSNP gnomAD v2 gnomAD v4
10g.80276389A>TCA377361589MAT1Ac.755T>A (p.Ile252Asn)
c.632T>A (p.Ile211Asn)
10g.80276390T>ACA5576720MAT1Ac.754A>T (p.Ile252Phe)
c.631A>T (p.Ile211Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.80276390T>CCA377361593MAT1Ac.754A>G (p.Ile252Val)
c.631A>G (p.Ile211Val)
gnomAD v4
10g.80276390T>GCA377361597MAT1Ac.754A>C (p.Ile252Leu)
c.631A>C (p.Ile211Leu)
10g.80276390T=CA1922574497MAT1Ac.754A= (p.Ile252=)
c.631A= (p.Ile211=)
10g.80276391G>ACA5576721MAT1Ac.753C>T (p.Val251=)
c.630C>T (p.Val210=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.80276391G>CCA470467434MAT1Ac.753C>G (p.Val251=)
c.630C>G (p.Val210=)
10g.80276391G=CA1922574499MAT1Ac.753C= (p.Val251=)
c.630C= (p.Val210=)
10g.80276391G>TCA470467435MAT1Ac.753C>A (p.Val251=)
c.630C>A (p.Val210=)
gnomAD v4
10g.80276392A=CA1922574500MAT1Ac.752T= (p.Val251=)
c.629T= (p.Val210=)
10g.80276392A>CCA377361602MAT1Ac.752T>G (p.Val251Gly)
c.629T>G (p.Val210Gly)
10g.80276392A>GCA377361604MAT1Ac.752T>C (p.Val251Ala)
c.629T>C (p.Val210Ala)
10g.80276392A>TCA377361606MAT1Ac.752T>A (p.Val251Asp)
c.629T>A (p.Val210Asp)
dbSNP
10g.80276393C>ACA377361613MAT1Ac.751G>T (p.Val251Phe)
c.628G>T (p.Val210Phe)
10g.80276393C>GCA377361615MAT1Ac.751G>C (p.Val251Leu)
c.628G>C (p.Val210Leu)
10g.80276393C>TCA377361610MAT1Ac.751G>A (p.Val251Ile)
c.628G>A (p.Val210Ile)
gnomAD v4
10g.80276394A>CCA377361618MAT1Ac.750T>G (p.Phe250Leu)
c.627T>G (p.Phe209Leu)

Number of alleles fetched