Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.52906134T>ACA402513653DCCc.503T>A (p.Met168Lys)
c.304T>A
c.434T>A (p.Met145Lys)
c.424T>A
n.416T>A
c.424T>A (n.424T>A)
18g.52906134T>CCA127073DCCc.503T>C (p.Met168Thr)
c.304T>C
c.434T>C (p.Met145Thr)
c.424T>C
n.416T>C
c.424T>C (n.424T>C)
ClinVar dbSNP
18g.52906134T>GCA402513654DCCc.503T>G (p.Met168Arg)
c.304T>G
c.434T>G (p.Met145Arg)
c.424T>G
n.416T>G
c.424T>G (n.424T>G)
18g.52906134T=CA2303875036DCCc.503T= (p.Met168=)
c.304T=
c.434T= (p.Met145=)
c.424T=
n.416T=
c.424T= (n.424T=)
18g.52906135G>ACA402513655DCCc.504G>A (p.Met168Ile)
c.305G>A
c.435G>A (p.Met145Ile)
c.425G>A
n.417G>A
c.425G>A (n.425G>A)
18g.52906135G>CCA402513656DCCc.504G>C (p.Met168Ile)
c.305G>C
c.435G>C (p.Met145Ile)
c.425G>C
n.417G>C
c.425G>C (n.425G>C)
18g.52906135G>TCA402513657DCCc.504G>T (p.Met168Ile)
c.305G>T
c.435G>T (p.Met145Ile)
c.425G>T
n.417G>T
c.425G>T (n.425G>T)
18g.52906136C>ACA402513658DCCc.505C>A (p.Pro169Thr)
c.306C>A
c.436C>A (p.Pro146Thr)
c.426C>A
n.418C>A
c.426C>A (n.426C>A)
dbSNP gnomAD v3 gnomAD v4
18g.52906136C=CA2303875037DCCc.505C= (p.Pro169=)
c.306C=
c.436C= (p.Pro146=)
c.426C=
n.418C=
c.426C= (n.426C=)
18g.52906136C>GCA402513659DCCc.505C>G (p.Pro169Ala)
c.306C>G
c.436C>G (p.Pro146Ala)
c.426C>G
n.418C>G
c.426C>G (n.426C>G)
18g.52906136C>TCA402513660DCCc.505C>T (p.Pro169Ser)
c.306C>T
c.436C>T (p.Pro146Ser)
c.426C>T
n.418C>T
c.426C>T (n.426C>T)
gnomAD v4
18g.52906137C>ACA402513661DCCc.506C>A (p.Pro169Gln)
c.307C>A
c.437C>A (p.Pro146Gln)
c.427C>A
n.419C>A
c.427C>A (n.427C>A)
18g.52906137C>GCA402513662DCCc.506C>G (p.Pro169Arg)
c.307C>G
c.437C>G (p.Pro146Arg)
c.427C>G
n.419C>G
c.427C>G (n.427C>G)
18g.52906137C>TCA402513663DCCc.506C>T (p.Pro169Leu)
c.307C>T
c.437C>T (p.Pro146Leu)
c.427C>T
n.419C>T
c.427C>T (n.427C>T)
18g.52906138A=CA2303875038DCCc.507A= (p.Pro169=)
c.308A=
c.438A= (p.Pro146=)
c.428A=
n.420A=
c.428A= (n.428A=)
18g.52906138A>CCA503999344DCCc.507A>C (p.Pro169=)
c.308A>C
c.438A>C (p.Pro146=)
c.428A>C
n.420A>C
c.428A>C (n.428A>C)
dbSNP gnomAD v2 gnomAD v4
18g.52906138A>GCA503999342DCCc.507A>G (p.Pro169=)
c.308A>G
c.438A>G (p.Pro146=)
c.428A>G
n.420A>G
c.428A>G (n.428A>G)
gnomAD v4
18g.52906138A>TCA503999343DCCc.507A>T (p.Pro169=)
c.308A>T
c.438A>T (p.Pro146=)
c.428A>T
n.420A>T
c.428A>T (n.428A>T)
18g.52906139A=CA2303875039DCCc.508A= (p.Thr170=)
c.309A=
c.439A= (p.Thr147=)
c.429A=
n.421A=
c.429A= (n.429A=)
18g.52906139A>CCA402513665DCCc.508A>C (p.Thr170Pro)
c.309A>C
c.439A>C (p.Thr147Pro)
c.429A>C
n.421A>C
c.429A>C (n.429A>C)
18g.52906139A>GCA402513666DCCc.508A>G (p.Thr170Ala)
c.309A>G
c.439A>G (p.Thr147Ala)
c.429A>G
n.421A>G
c.429A>G (n.429A>G)
dbSNP gnomAD v3 gnomAD v4
18g.52906139A>TCA402513664DCCc.508A>T (p.Thr170Ser)
c.309A>T
c.439A>T (p.Thr147Ser)
c.429A>T
n.421A>T
c.429A>T (n.429A>T)
18g.52906140C>ACA402513667DCCc.509C>A (p.Thr170Lys)
c.310C>A
c.440C>A (p.Thr147Lys)
c.430C>A
n.422C>A
c.430C>A (n.430C>A)
gnomAD v4
18g.52906140C=CA2303875040DCCc.509C= (p.Thr170=)
c.310C=
c.440C= (p.Thr147=)
c.430C=
n.422C=
c.430C= (n.430C=)
18g.52906140C>GCA402513668DCCc.509C>G (p.Thr170Arg)
c.310C>G
c.440C>G (p.Thr147Arg)
c.430C>G
n.422C>G
c.430C>G (n.430C>G)
18g.52906140C>TCA402513669DCCc.509C>T (p.Thr170Ile)
c.310C>T
c.440C>T (p.Thr147Ile)
c.430C>T
n.422C>T
c.430C>T (n.430C>T)
dbSNP gnomAD v3 gnomAD v4
18g.52906141A>CCA503999345DCCc.510A>C (p.Thr170=)
c.311A>C
c.441A>C (p.Thr147=)
c.431A>C
n.423A>C
c.431A>C (n.431A>C)
18g.52906141A>GCA503999346DCCc.510A>G (p.Thr170=)
c.311A>G
c.441A>G (p.Thr147=)
c.431A>G
n.423A>G
c.431A>G (n.431A>G)
18g.52906141A>TCA503999347DCCc.510A>T (p.Thr170=)
c.311A>T
c.441A>T (p.Thr147=)
c.431A>T
n.423A>T
c.431A>T (n.431A>T)
18g.52906142A=CA2303875041DCCc.511A= (p.Ile171=)
c.312A=
c.442A= (p.Ile148=)
c.432A=
n.424A=
c.432A= (n.432A=)
18g.52906142A>CCA402513670DCCc.511A>C (p.Ile171Leu)
c.312A>C
c.442A>C (p.Ile148Leu)
c.432A>C
n.424A>C
c.432A>C (n.432A>C)
18g.52906142A>GCA8966559DCCc.511A>G (p.Ile171Val)
c.312A>G
c.442A>G (p.Ile148Val)
c.432A>G
n.424A>G
c.432A>G (n.432A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906142A>TCA402513671DCCc.511A>T (p.Ile171Phe)
c.312A>T
c.442A>T (p.Ile148Phe)
c.432A>T
n.424A>T
c.432A>T (n.432A>T)
18g.52906143T>ACA402513672DCCc.512T>A (p.Ile171Asn)
c.313T>A
c.443T>A (p.Ile148Asn)
c.433T>A
n.425T>A
c.433T>A (n.433T>A)
18g.52906143T>CCA402513673DCCc.512T>C (p.Ile171Thr)
c.313T>C
c.443T>C (p.Ile148Thr)
c.433T>C
n.425T>C
c.433T>C (n.433T>C)
18g.52906143T>GCA402513674DCCc.512T>G (p.Ile171Ser)
c.313T>G
c.443T>G (p.Ile148Ser)
c.433T>G
n.425T>G
c.433T>G (n.433T>G)
18g.52906144C>ACA8966561DCCc.513C>A (p.Ile171=)
c.314C>A
c.444C>A (p.Ile148=)
c.434C>A
n.426C>A
c.434C>A (n.434C>A)
dbSNP ExAC gnomAD v4
18g.52906144C=CA2303875042DCCc.513C= (p.Ile171=)
c.314C=
c.444C= (p.Ile148=)
c.434C=
n.426C=
c.434C= (n.434C=)
18g.52906144C>GCA402513675DCCc.513C>G (p.Ile171Met)
c.314C>G
c.444C>G (p.Ile148Met)
c.434C>G
n.426C>G
c.434C>G (n.434C>G)
18g.52906144C>TCA8966560DCCc.513C>T (p.Ile171=)
c.314C>T
c.444C>T (p.Ile148=)
c.434C>T
n.426C>T
c.434C>T (n.434C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.52906145C>ACA402513678DCCc.514C>A (p.His172Asn)
c.315C>A
c.445C>A (p.His149Asn)
c.435C>A
n.427C>A
c.435C>A (n.435C>A)
18g.52906145C>GCA402513677DCCc.514C>G (p.His172Asp)
c.315C>G
c.445C>G (p.His149Asp)
c.435C>G
n.427C>G
c.435C>G (n.435C>G)
18g.52906145C>TCA402513676DCCc.514C>T (p.His172Tyr)
c.315C>T
c.445C>T (p.His149Tyr)
c.435C>T
n.427C>T
c.435C>T (n.435C>T)
18g.52906146A>CCA402513679DCCc.515A>C (p.His172Pro)
c.316A>C
c.446A>C (p.His149Pro)
c.436A>C
n.428A>C
c.436A>C (n.436A>C)
18g.52906146A>GCA402513680DCCc.515A>G (p.His172Arg)
c.316A>G
c.446A>G (p.His149Arg)
c.436A>G
n.428A>G
c.436A>G (n.436A>G)
gnomAD v4
18g.52906146A>TCA402513681DCCc.515A>T (p.His172Leu)
c.316A>T
c.446A>T (p.His149Leu)
c.436A>T
n.428A>T
c.436A>T (n.436A>T)
18g.52906147C>ACA402513682DCCc.516C>A (p.His172Gln)
c.317C>A
c.447C>A (p.His149Gln)
c.437C>A
n.429C>A
c.437C>A (n.437C>A)
18g.52906147C>GCA402513683DCCc.516C>G (p.His172Gln)
c.317C>G
c.447C>G (p.His149Gln)
c.437C>G
n.429C>G
c.437C>G (n.437C>G)
18g.52906147C>TCA503999348DCCc.516C>T (p.His172=)
c.317C>T
c.447C>T (p.His149=)
c.437C>T
n.429C>T
c.437C>T (n.437C>T)
18g.52906148T>ACA402513684DCCc.517T>A (p.Trp173Arg)
c.318T>A
c.448T>A (p.Trp150Arg)
c.438T>A
n.430T>A
c.438T>A (n.438T>A)

Number of alleles fetched