Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.77268643_77268646delinsACATCA2315413145GALR1c.791_794delinsACAT (p.His264=)
18g.77268648_77268650delCA782666621GALR1c.796_798del (p.Ile266del)
dbSNP
18g.77268645A=CA2315413146GALR1c.793A= (p.Ile265=)
18g.77268645A>CCA402807385GALR1c.793A>C (p.Ile265Leu)
18g.77268645A>GCA402807387GALR1c.793A>G (p.Ile265Val)
gnomAD v4
18g.77268645A>TCA9005971GALR1c.793A>T (p.Ile265Phe)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.77268646T>ACA402807389GALR1c.794T>A (p.Ile265Asn)
18g.77268646T>CCA402807392GALR1c.794T>C (p.Ile265Thr)
18g.77268646T>GCA402807394GALR1c.794T>G (p.Ile265Ser)
18g.77268646_77268649dupCA631290588GALR1c.794_797dup (p.Leu268ProfsTer5)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.77268647C>ACA504863640GALR1c.795C>A (p.Ile265=)
18g.77268647C>GCA402807395GALR1c.795C>G (p.Ile265Met)
18g.77268647C>TCA504863641GALR1c.795C>T (p.Ile265=)
COSMIC
18g.77268648A>CCA402807400GALR1c.796A>C (p.Ile266Leu)
18g.77268648A>GCA402807398GALR1c.796A>G (p.Ile266Val)
gnomAD v4
18g.77268648A>TCA402807401GALR1c.796A>T (p.Ile266Phe)
18g.77268649T>ACA402807402GALR1c.797T>A (p.Ile266Asn)
18g.77268649T>CCA402807404GALR1c.797T>C (p.Ile266Thr)
18g.77268649T>GCA402807406GALR1c.797T>G (p.Ile266Ser)
18g.77268650C>ACA504863643GALR1c.798C>A (p.Ile266=)
18g.77268650C=CA2315413147GALR1c.798C= (p.Ile266=)
18g.77268650C>GCA402807408GALR1c.798C>G (p.Ile266Met)
18g.77268650C>TCA504863644GALR1c.798C>T (p.Ile266=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.77268651C>ACA402807409GALR1c.799C>A (p.His267Asn)
18g.77268651C=CA2315413148GALR1c.799C= (p.His267=)
18g.77268651C>GCA402807410GALR1c.799C>G (p.His267Asp)
18g.77268651C>TCA302941782GALR1c.799C>T (p.His267Tyr)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.77268652A=CA2315413149GALR1c.800A= (p.His267=)
18g.77268652A>CCA402807411GALR1c.800A>C (p.His267Pro)
18g.77268652A>GCA302941784GALR1c.800A>G (p.His267Arg)
dbSNP gnomAD v3 gnomAD v4
18g.77268652A>TCA402807413GALR1c.800A>T (p.His267Leu)
18g.77268653T>ACA402807415GALR1c.801T>A (p.His267Gln)
18g.77268653T>CCA504863648GALR1c.801T>C (p.His267=)
dbSNP
18g.77268653T>GCA402807417GALR1c.801T>G (p.His267Gln)
18g.77268653T=CA2315413150GALR1c.801T= (p.His267=)
18g.77268654C>ACA402807422GALR1c.802C>A (p.Leu268Ile)
18g.77268654C>GCA402807420GALR1c.802C>G (p.Leu268Val)
18g.77268654C>TCA402807418GALR1c.802C>T (p.Leu268Phe)
18g.77268655T>ACA402807424GALR1c.803T>A (p.Leu268His)
18g.77268655T>CCA302941785GALR1c.803T>C (p.Leu268Pro)
dbSNP gnomAD v2 gnomAD v4
18g.77268655T>GCA402807426GALR1c.803T>G (p.Leu268Arg)
18g.77268655T=CA2315413151GALR1c.803T= (p.Leu268=)
18g.77268656C>ACA504863652GALR1c.804C>A (p.Leu268=)
18g.77268656C=CA2315413152GALR1c.804C= (p.Leu268=)
18g.77268656C>GCA302941787GALR1c.804C>G (p.Leu268=)
dbSNP gnomAD v2 gnomAD v4
18g.77268656C>TCA504863653GALR1c.804C>T (p.Leu268=)
COSMIC
18g.77268657T>ACA402807428GALR1c.805T>A (p.Trp269Arg)
18g.77268657T>CCA402807430GALR1c.805T>C (p.Trp269Arg)
18g.77268657T>GCA402807432GALR1c.805T>G (p.Trp269Gly)
18g.77268658G>ACA402807434GALR1c.806G>A (p.Trp269Ter)

Number of alleles fetched