Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.42693312_42693322delinsAGCGGGACTGGCA2406870236A4GALT,CYB5R3c.-49+27475_-49+27485delinsCCAGTCCCGCT (n.-49+27475_-49+27485delinsCCAGTCCCGCT)
c.630_640delinsCCAGTCCCGCT (p.Thr210=)
22g.42693314_42693321delCA2657079474A4GALT,CYB5R3c.-49+27477_-49+27484del (n.-49+27477_-49+27484del)
c.632_639del (p.Gln211LeufsTer?)
gnomAD v4
22g.42693314_42693323delCA639829272A4GALT,CYB5R3c.-49+27475_-49+27484del (n.-49+27475_-49+27484del)
c.630_639del (p.Gln211ThrfsTer?)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
22g.42693321G>ACA411811908A4GALT,CYB5R3c.-49+27476C>T (n.-49+27476C>T)
c.631C>T (p.Gln211Ter)
gnomAD v4
22g.42693321G>CCA130289A4GALT,CYB5R3c.-49+27476C>G (n.-49+27476C>G)
c.631C>G (p.Gln211Glu)
ClinVar dbSNP
22g.42693321G=CA2406870239A4GALT,CYB5R3c.-49+27476C= (n.-49+27476C=)
c.631C= (p.Gln211=)
22g.42693321G>TCA411811911A4GALT,CYB5R3c.-49+27476C>A (n.-49+27476C>A)
c.631C>A (p.Gln211Lys)
22g.42693322G>ACA515072332A4GALT,CYB5R3c.-49+27475C>T (n.-49+27475C>T)
c.630C>T (p.Thr210=)
gnomAD v4
22g.42693322G>CCA515072334A4GALT,CYB5R3c.-49+27475C>G (n.-49+27475C>G)
c.630C>G (p.Thr210=)
gnomAD v4
22g.42693322G>TCA515072336A4GALT,CYB5R3c.-49+27475C>A (n.-49+27475C>A)
c.630C>A (p.Thr210=)
22g.42693323G>ACA411811916A4GALT,CYB5R3c.-49+27474C>T (n.-49+27474C>T)
c.629C>T (p.Thr210Ile)
gnomAD v4
22g.42693323G>CCA411811914A4GALT,CYB5R3c.-49+27474C>G (n.-49+27474C>G)
c.629C>G (p.Thr210Ser)
22g.42693323G>TCA411811912A4GALT,CYB5R3c.-49+27474C>A (n.-49+27474C>A)
c.629C>A (p.Thr210Asn)
22g.42693324T>ACA411811918A4GALT,CYB5R3c.-49+27473A>T (n.-49+27473A>T)
c.628A>T (p.Thr210Ser)
22g.42693324T>CCA411811920A4GALT,CYB5R3c.-49+27473A>G (n.-49+27473A>G)
c.628A>G (p.Thr210Ala)
22g.42693324T>GCA10270252A4GALT,CYB5R3c.-49+27473A>C (n.-49+27473A>C)
c.628A>C (p.Thr210Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693324T=CA2406870240A4GALT,CYB5R3c.-49+27473A= (n.-49+27473A=)
c.628A= (p.Thr210=)
22g.42693325G>ACA10270253A4GALT,CYB5R3c.-49+27472C>T (n.-49+27472C>T)
c.627C>T (p.Gly209=)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693325G>CCA515072350A4GALT,CYB5R3c.-49+27472C>G (n.-49+27472C>G)
c.627C>G (p.Gly209=)
gnomAD v4
22g.42693325G=CA2406870241A4GALT,CYB5R3c.-49+27472C= (n.-49+27472C=)
c.627C= (p.Gly209=)
22g.42693325G>TCA515072352A4GALT,CYB5R3c.-49+27472C>A (n.-49+27472C>A)
c.627C>A (p.Gly209=)
22g.42693326C>ACA10270254A4GALT,CYB5R3c.-49+27471G>T (n.-49+27471G>T)
c.626G>T (p.Gly209Val)
dbSNP ExAC gnomAD v2 gnomAD v4
22g.42693326C=CA2406870242A4GALT,CYB5R3c.-49+27471G= (n.-49+27471G=)
c.626G= (p.Gly209=)
22g.42693326C>GCA411811926A4GALT,CYB5R3c.-49+27471G>C (n.-49+27471G>C)
c.626G>C (p.Gly209Ala)
22g.42693326C>TCA411811928A4GALT,CYB5R3c.-49+27471G>A (n.-49+27471G>A)
c.626G>A (p.Gly209Asp)
dbSNP
22g.42693327C>ACA411811930A4GALT,CYB5R3c.-49+27470G>T (n.-49+27470G>T)
c.625G>T (p.Gly209Cys)
22g.42693327C>GCA411811932A4GALT,CYB5R3c.-49+27470G>C (n.-49+27470G>C)
c.625G>C (p.Gly209Arg)
22g.42693327C>TCA411811934A4GALT,CYB5R3c.-49+27470G>A (n.-49+27470G>A)
c.625G>A (p.Gly209Ser)
22g.42693328C>ACA515072361A4GALT,CYB5R3c.-49+27469G>T (n.-49+27469G>T)
c.624G>T (p.Leu208=)
22g.42693328C>GCA515072362A4GALT,CYB5R3c.-49+27469G>C (n.-49+27469G>C)
c.624G>C (p.Leu208=)
22g.42693328C>TCA515072363A4GALT,CYB5R3c.-49+27469G>A (n.-49+27469G>A)
c.624G>A (p.Leu208=)
gnomAD v4
22g.42693329A>CCA411811936A4GALT,CYB5R3c.-49+27468T>G (n.-49+27468T>G)
c.623T>G (p.Leu208Arg)
22g.42693329A>GCA411811939A4GALT,CYB5R3c.-49+27468T>C (n.-49+27468T>C)
c.623T>C (p.Leu208Pro)
22g.42693329A>TCA411811940A4GALT,CYB5R3c.-49+27468T>A (n.-49+27468T>A)
c.623T>A (p.Leu208Gln)
22g.42693330G>ACA515072369A4GALT,CYB5R3c.-49+27467C>T (n.-49+27467C>T)
c.622C>T (p.Leu208=)
22g.42693330G>CCA411811944A4GALT,CYB5R3c.-49+27467C>G (n.-49+27467C>G)
c.622C>G (p.Leu208Val)
22g.42693330G>TCA411811942A4GALT,CYB5R3c.-49+27467C>A (n.-49+27467C>A)
c.622C>A (p.Leu208Met)
22g.42693331C>ACA515072374A4GALT,CYB5R3c.-49+27466G>T (n.-49+27466G>T)
c.621G>T (p.Val207=)
22g.42693331C>GCA515072376A4GALT,CYB5R3c.-49+27466G>C (n.-49+27466G>C)
c.621G>C (p.Val207=)
22g.42693331C>TCA515072378A4GALT,CYB5R3c.-49+27466G>A (n.-49+27466G>A)
c.621G>A (p.Val207=)
22g.42693332A=CA2406870243A4GALT,CYB5R3c.-49+27465T= (n.-49+27465T=)
c.620T= (p.Val207=)
22g.42693332A>CCA10270255A4GALT,CYB5R3c.-49+27465T>G (n.-49+27465T>G)
c.620T>G (p.Val207Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693332A>GCA411811947A4GALT,CYB5R3c.-49+27465T>C (n.-49+27465T>C)
c.620T>C (p.Val207Ala)
22g.42693332A>TCA411811945A4GALT,CYB5R3c.-49+27465T>A (n.-49+27465T>A)
c.620T>A (p.Val207Glu)
22g.42693333C>ACA411811949A4GALT,CYB5R3c.-49+27464G>T (n.-49+27464G>T)
c.619G>T (p.Val207Leu)
22g.42693333C=CA2406870244A4GALT,CYB5R3c.-49+27464G= (n.-49+27464G=)
c.619G= (p.Val207=)
22g.42693333C>GCA411811951A4GALT,CYB5R3c.-49+27464G>C (n.-49+27464G>C)
c.619G>C (p.Val207Leu)
22g.42693333C>TCA10270256A4GALT,CYB5R3c.-49+27464G>A (n.-49+27464G>A)
c.619G>A (p.Val207Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
22g.42693334G>ACA10270257A4GALT,CYB5R3c.-49+27463C>T (n.-49+27463C>T)
c.618C>T (p.Asn206=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
22g.42693334G>CCA411811956A4GALT,CYB5R3c.-49+27463C>G (n.-49+27463C>G)
c.618C>G (p.Asn206Lys)

Number of alleles fetched