Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.13884769G>ACA503248034MC2Rc.750C>T (p.Tyr250=)
18g.13884769G>CCA401994093MC2Rc.750C>G (p.Tyr250Ter)
18g.13884769G>TCA401994092MC2Rc.750C>A (p.Tyr250Ter)
18g.13884770T>ACA401994096MC2Rc.749A>T (p.Tyr250Phe)
dbSNP gnomAD v3 gnomAD v4
18g.13884770T>CCA401994098MC2Rc.749A>G (p.Tyr250Cys)
18g.13884770T>GCA401994100MC2Rc.749A>C (p.Tyr250Ser)
18g.13884770T=CA2285919264MC2Rc.749A= (p.Tyr250=)
18g.13884771A=CA2285919265MC2Rc.748T= (p.Tyr250=)
18g.13884771A>CCA401994103MC2Rc.748T>G (p.Tyr250Asp)
18g.13884771A>GCA401994104MC2Rc.748T>C (p.Tyr250His)
dbSNP
18g.13884771A>TCA401994106MC2Rc.748T>A (p.Tyr250Asn)
18g.13884772G>ACA503248041MC2Rc.747C>T (p.Pro249=)
18g.13884772G>CCA503248040MC2Rc.747C>G (p.Pro249=)
18g.13884772G>TCA503248039MC2Rc.747C>A (p.Pro249=)
18g.13884773G>ACA401994113MC2Rc.746C>T (p.Pro249Leu)
18g.13884773G>CCA401994108MC2Rc.746C>G (p.Pro249Arg)
18g.13884773G>TCA401994110MC2Rc.746C>A (p.Pro249His)
18g.13884774G>ACA401994115MC2Rc.745C>T (p.Pro249Ser)
gnomAD v4
18g.13884774G>CCA8902412MC2Rc.745C>G (p.Pro249Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.13884774G=CA2285919266MC2Rc.745C= (p.Pro249=)
18g.13884774G>TCA401994118MC2Rc.745C>A (p.Pro249Thr)
18g.13884775G>ACA503248055MC2Rc.744C>T (p.Asn248=)
dbSNP gnomAD v3 gnomAD v4
18g.13884775G>CCA401994121MC2Rc.744C>G (p.Asn248Lys)
18g.13884775G=CA2285919267MC2Rc.744C= (p.Asn248=)
18g.13884775G>TCA8902413MC2Rc.744C>A (p.Asn248Lys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.13884776T>ACA401994124MC2Rc.743A>T (p.Asn248Ile)
18g.13884776T>CCA401994126MC2Rc.743A>G (p.Asn248Ser)
18g.13884776T>GCA401994128MC2Rc.743A>C (p.Asn248Thr)
18g.13884777T>ACA401994131MC2Rc.742A>T (p.Asn248Tyr)
18g.13884777T>CCA401994133MC2Rc.742A>G (p.Asn248Asp)
dbSNP
18g.13884777T>GCA401994134MC2Rc.742A>C (p.Asn248His)
18g.13884777T=CA2285919268MC2Rc.742A= (p.Asn248=)
18g.13884778_13884780delCA2641150774MC2Rc.740_742del (p.Ser247del)
gnomAD v4
18g.13884778A>CCA401994138MC2Rc.741T>G (p.Ser247Arg)
18g.13884778A>GCA503248062MC2Rc.741T>C (p.Ser247=)
18g.13884778A>TCA401994139MC2Rc.741T>A (p.Ser247Arg)
18g.13884779delCA2641150775MC2Rc.740del (p.Ser247IlefsTer14)
gnomAD v4
18g.13884779C>ACA401994144MC2Rc.740G>T (p.Ser247Ile)
18g.13884779C>GCA401994142MC2Rc.740G>C (p.Ser247Thr)
18g.13884779C>TCA401994143MC2Rc.740G>A (p.Ser247Asn)
18g.13884780T>ACA401994147MC2Rc.739A>T (p.Ser247Cys)
gnomAD v4
18g.13884780T>CCA401994149MC2Rc.739A>G (p.Ser247Gly)
18g.13884780T>GCA401994150MC2Rc.739A>C (p.Ser247Arg)
18g.13884781T>ACA503248068MC2Rc.738A>T (p.Pro246=)
18g.13884781T>CCA503248069MC2Rc.738A>G (p.Pro246=)
18g.13884781T>GCA503248073MC2Rc.738A>C (p.Pro246=)
18g.13884782G>ACA401994153MC2Rc.737C>T (p.Pro246Leu)
18g.13884782G>CCA401994155MC2Rc.737C>G (p.Pro246Arg)
18g.13884782G>TCA401994157MC2Rc.737C>A (p.Pro246Gln)
18g.13884783G>ACA401994163MC2Rc.736C>T (p.Pro246Ser)

Number of alleles fetched