Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.42693312_42693322delinsAGCGGGACTGGCA2406870236A4GALTc.630_640delinsCCAGTCCCGCT (p.Thr210=)
22g.42693314_42693323delCA639829272A4GALTc.630_639del (p.Gln211ThrfsTer?)
dbSNP gnomAD
22g.42693321G>ACA411811908A4GALTc.631C>T (p.Gln211Ter)
22g.42693321G>CCA130289A4GALTc.631C>G (p.Gln211Glu)
ClinVar dbSNP
22g.42693321G=CA2406870239A4GALTc.631C= (p.Gln211=)
22g.42693321G>TCA411811911A4GALTc.631C>A (p.Gln211Lys)
22g.42693322G>ACA515072332A4GALTc.630C>T (p.Thr210=)
22g.42693322G>CCA515072334A4GALTc.630C>G (p.Thr210=)
22g.42693322G>TCA515072336A4GALTc.630C>A (p.Thr210=)
22g.42693323G>ACA411811916A4GALTc.629C>T (p.Thr210Ile)
22g.42693323G>CCA411811914A4GALTc.629C>G (p.Thr210Ser)
22g.42693323G>TCA411811912A4GALTc.629C>A (p.Thr210Asn)
22g.42693324T>ACA411811918A4GALTc.628A>T (p.Thr210Ser)
22g.42693324T>CCA411811920A4GALTc.628A>G (p.Thr210Ala)
22g.42693324T>GCA10270252A4GALTc.628A>C (p.Thr210Pro)
dbSNP ExAC gnomAD
22g.42693324T=CA2406870240A4GALTc.628A= (p.Thr210=)
22g.42693325G>ACA10270253A4GALTc.627C>T (p.Gly209=)
dbSNP ExAC gnomAD
22g.42693325G>CCA515072350A4GALTc.627C>G (p.Gly209=)
22g.42693325G=CA2406870241A4GALTc.627C= (p.Gly209=)
22g.42693325G>TCA515072352A4GALTc.627C>A (p.Gly209=)
22g.42693326C>ACA10270254A4GALTc.626G>T (p.Gly209Val)
dbSNP ExAC gnomAD
22g.42693326C=CA2406870242A4GALTc.626G= (p.Gly209=)
22g.42693326C>GCA411811926A4GALTc.626G>C (p.Gly209Ala)
22g.42693326C>TCA411811928A4GALTc.626G>A (p.Gly209Asp)
22g.42693327C>ACA411811930A4GALTc.625G>T (p.Gly209Cys)
22g.42693327C>GCA411811932A4GALTc.625G>C (p.Gly209Arg)
22g.42693327C>TCA411811934A4GALTc.625G>A (p.Gly209Ser)
22g.42693328C>ACA515072361A4GALTc.624G>T (p.Leu208=)
22g.42693328C>GCA515072362A4GALTc.624G>C (p.Leu208=)
22g.42693328C>TCA515072363A4GALTc.624G>A (p.Leu208=)
22g.42693329A>CCA411811936A4GALTc.623T>G (p.Leu208Arg)
22g.42693329A>GCA411811939A4GALTc.623T>C (p.Leu208Pro)
22g.42693329A>TCA411811940A4GALTc.623T>A (p.Leu208Gln)
22g.42693330G>ACA515072369A4GALTc.622C>T (p.Leu208=)
22g.42693330G>CCA411811944A4GALTc.622C>G (p.Leu208Val)
22g.42693330G>TCA411811942A4GALTc.622C>A (p.Leu208Met)
22g.42693331C>ACA515072374A4GALTc.621G>T (p.Val207=)
22g.42693331C>GCA515072376A4GALTc.621G>C (p.Val207=)
22g.42693331C>TCA515072378A4GALTc.621G>A (p.Val207=)
22g.42693332A=CA2406870243A4GALTc.620T= (p.Val207=)
22g.42693332A>CCA10270255A4GALTc.620T>G (p.Val207Gly)
dbSNP ExAC gnomAD
22g.42693332A>GCA411811947A4GALTc.620T>C (p.Val207Ala)
22g.42693332A>TCA411811945A4GALTc.620T>A (p.Val207Glu)
22g.42693333C>ACA411811949A4GALTc.619G>T (p.Val207Leu)
22g.42693333C=CA2406870244A4GALTc.619G= (p.Val207=)
22g.42693333C>GCA411811951A4GALTc.619G>C (p.Val207Leu)
22g.42693333C>TCA10270256A4GALTc.619G>A (p.Val207Met)
dbSNP ExAC gnomAD
22g.42693334G>ACA10270257A4GALTc.618C>T (p.Asn206=)
dbSNP ExAC gnomAD COSMIC
22g.42693334G>CCA411811956A4GALTc.618C>G (p.Asn206Lys)
22g.42693334G=CA2406870245A4GALTc.618C= (p.Asn206=)

Number of alleles fetched