Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.60371773C>ACA402719512MC4Rc.577G>T (p.Val193Phe)
18g.60371773C=CA2307359125MC4Rc.577G= (p.Val193=)
18g.60371773C>GCA402719513MC4Rc.577G>C (p.Val193Leu)
18g.60371773C>TCA402719514MC4Rc.577G>A (p.Val193Ile)
dbSNP gnomAD v3 gnomAD v4
18g.60371774A>CCA504305584MC4Rc.576T>G (p.Ala192=)
18g.60371774A>GCA504305582MC4Rc.576T>C (p.Ala192=)
18g.60371774A>TCA504305583MC4Rc.576T>A (p.Ala192=)
gnomAD v4
18g.60371775G>ACA402719517MC4Rc.575C>T (p.Ala192Val)
18g.60371775G>CCA402719516MC4Rc.575C>G (p.Ala192Gly)
dbSNP gnomAD v2 gnomAD v4
18g.60371775G=CA2307359126MC4Rc.575C= (p.Ala192=)
18g.60371775G>TCA402719515MC4Rc.575C>A (p.Ala192Asp)
18g.60371776C>ACA402719518MC4Rc.574G>T (p.Ala192Ser)
18g.60371776C>GCA402719519MC4Rc.574G>C (p.Ala192Pro)
18g.60371776C>TCA402719520MC4Rc.574G>A (p.Ala192Thr)
18g.60371776_60371779delinsCACTCA2307359127MC4Rc.571_574delinsAGTG (p.Ser191=)
18g.60371777A=CA2307359128MC4Rc.573T= (p.Ser191=)
18g.60371777A>CCA402719521MC4Rc.573T>G (p.Ser191Arg)
18g.60371777A>GCA8980890MC4Rc.573T>C (p.Ser191=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371777A>TCA402719522MC4Rc.573T>A (p.Ser191Arg)
18g.60371781_60371783delCA504305587MC4Rc.571_573del (p.Ser191del)
dbSNP
18g.60371778C>ACA402719523MC4Rc.572G>T (p.Ser191Ile)
18g.60371778C=CA2307359129MC4Rc.572G= (p.Ser191=)
18g.60371778C>GCA402719524MC4Rc.572G>C (p.Ser191Thr)
dbSNP gnomAD v3 gnomAD v4
18g.60371778C>TCA402719525MC4Rc.572G>A (p.Ser191Asn)
18g.60371779T>ACA402719526MC4Rc.571A>T (p.Ser191Cys)
18g.60371779T>CCA402719527MC4Rc.571A>G (p.Ser191Gly)
18g.60371779T>GCA402719528MC4Rc.571A>C (p.Ser191Arg)
18g.60371780A=CA2307359130MC4Rc.570T= (p.Ser190=)
18g.60371780A>CCA402719530MC4Rc.570T>G (p.Ser190Arg)
18g.60371780A>GCA8980891MC4Rc.570T>C (p.Ser190=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371780A>TCA402719529MC4Rc.570T>A (p.Ser190Arg)
18g.60371781C>ACA402719531MC4Rc.569G>T (p.Ser190Ile)
18g.60371781C=CA2307359131MC4Rc.569G= (p.Ser190=)
18g.60371781C>GCA402719532MC4Rc.569G>C (p.Ser190Thr)
18g.60371781C>TCA402719533MC4Rc.569G>A (p.Ser190Asn)
dbSNP gnomAD v2 gnomAD v4
18g.60371782T>ACA402719534MC4Rc.568A>T (p.Ser190Cys)
18g.60371782T>CCA8980892MC4Rc.568A>G (p.Ser190Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371782T>GCA402719535MC4Rc.568A>C (p.Ser190Arg)
18g.60371782T=CA2307359132MC4Rc.568A= (p.Ser190=)
18g.60371783A=CA2307359133MC4Rc.567T= (p.Asp189=)
18g.60371783A>CCA402719536MC4Rc.567T>G (p.Asp189Glu)
18g.60371783A>GCA8980893MC4Rc.567T>C (p.Asp189=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371783A>TCA402719537MC4Rc.567T>A (p.Asp189Glu)
18g.60371784T>ACA402719538MC4Rc.566A>T (p.Asp189Val)
18g.60371784T>CCA402719539MC4Rc.566A>G (p.Asp189Gly)
18g.60371784T>GCA402719540MC4Rc.566A>C (p.Asp189Ala)
18g.60371785C>ACA402719542MC4Rc.565G>T (p.Asp189Tyr)
18g.60371785C>GCA402719543MC4Rc.565G>C (p.Asp189His)
18g.60371785C>TCA402719541MC4Rc.565G>A (p.Asp189Asn)
gnomAD v4 COSMIC
18g.60371786T>ACA504305592MC4Rc.564A>T (p.Ser188=)
18g.60371786T>CCA504305595MC4Rc.564A>G (p.Ser188=)
18g.60371786T>GCA504305593MC4Rc.564A>C (p.Ser188=)
18g.60371787G>ACA8980894MC4Rc.563C>T (p.Ser188Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371787G>CCA402719544MC4Rc.563C>G (p.Ser188Ter)
18g.60371787G=CA2307359134MC4Rc.563C= (p.Ser188=)
18g.60371787G>TCA402719545MC4Rc.563C>A (p.Ser188Ter)
18g.60371788A>CCA402719546MC4Rc.562T>G (p.Ser188Ala)
gnomAD v4
18g.60371788A>GCA402719547MC4Rc.562T>C (p.Ser188Pro)
18g.60371788A>TCA402719548MC4Rc.562T>A (p.Ser188Thr)
18g.60371789G>ACA504305598MC4Rc.561C>T (p.Tyr187=)
18g.60371789G>CCA402719549MC4Rc.561C>G (p.Tyr187Ter)
dbSNP
18g.60371789G=CA2307359135MC4Rc.561C= (p.Tyr187=)
18g.60371789G>TCA402719550MC4Rc.561C>A (p.Tyr187Ter)
18g.60371790T>ACA402719551MC4Rc.560A>T (p.Tyr187Phe)
18g.60371790T>CCA402719552MC4Rc.560A>G (p.Tyr187Cys)
18g.60371790T>GCA402719553MC4Rc.560A>C (p.Tyr187Ser)
18g.60371790_60371791delinsTACA2307359136MC4Rc.559_560delinsTA (p.Tyr187=)
18g.60371791A>CCA402719554MC4Rc.559T>G (p.Tyr187Asp)
18g.60371791A>GCA402719555MC4Rc.559T>C (p.Tyr187His)
18g.60371791A>TCA402719556MC4Rc.559T>A (p.Tyr187Asn)
18g.60371793delCA630399156MC4Rc.559del (p.Tyr187ThrfsTer?)
dbSNP gnomAD v2 gnomAD v4
18g.60371792A>CCA402719557MC4Rc.558T>G (p.Ile186Met)
18g.60371792A>GCA504305604MC4Rc.558T>C (p.Ile186=)
gnomAD v4
18g.60371792A>TCA504305605MC4Rc.558T>A (p.Ile186=)
18g.60371793A>CCA402719559MC4Rc.557T>G (p.Ile186Ser)
18g.60371793A>GCA402719558MC4Rc.557T>C (p.Ile186Thr)
18g.60371793A>TCA402719560MC4Rc.557T>A (p.Ile186Asn)
18g.60371797_60371799delCA2642029300MC4Rc.555_557del (p.Ile186del)
gnomAD v4
18g.60371794T>ACA402719561MC4Rc.556A>T (p.Ile186Phe)
18g.60371794T>CCA402719563MC4Rc.556A>G (p.Ile186Val)
gnomAD v4
18g.60371794T>GCA402719562MC4Rc.556A>C (p.Ile186Leu)
18g.60371795G>ACA504305608MC4Rc.555C>T (p.Ile185=)
dbSNP gnomAD v3 gnomAD v4
18g.60371795G>CCA402719564MC4Rc.555C>G (p.Ile185Met)
18g.60371795G=CA2307359137MC4Rc.555C= (p.Ile185=)
18g.60371795G>TCA504305607MC4Rc.555C>A (p.Ile185=)
18g.60371796A>CCA402719565MC4Rc.554T>G (p.Ile185Ser)
18g.60371796A>GCA402719566MC4Rc.554T>C (p.Ile185Thr)
18g.60371796A>TCA402719567MC4Rc.554T>A (p.Ile185Asn)
18g.60371797T>ACA402719568MC4Rc.553A>T (p.Ile185Phe)
18g.60371797T>CCA8980895MC4Rc.553A>G (p.Ile185Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371797T>GCA402719569MC4Rc.553A>C (p.Ile185Leu)
18g.60371797T=CA2307359138MC4Rc.553A= (p.Ile185=)
18g.60371798G>ACA504305236MC4Rc.552C>T (p.Phe184=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371798G>CCA402719571MC4Rc.552C>G (p.Phe184Leu)
18g.60371798G=CA2307359139MC4Rc.552C= (p.Phe184=)
18g.60371798G>TCA402719572MC4Rc.552C>A (p.Phe184Leu)
dbSNP
18g.60371799A>CCA402719573MC4Rc.551T>G (p.Phe184Cys)
18g.60371799A>GCA402719574MC4Rc.551T>C (p.Phe184Ser)
18g.60371799A>TCA402719575MC4Rc.551T>A (p.Phe184Tyr)
18g.60371800A>CCA402719576MC4Rc.550T>G (p.Phe184Val)
18g.60371800A>GCA402719578MC4Rc.550T>C (p.Phe184Leu)
18g.60371800A>TCA402719577MC4Rc.550T>A (p.Phe184Ile)
gnomAD v4
18g.60371801C>ACA402719579MC4Rc.549G>T (p.Leu183Phe)
gnomAD v4
18g.60371801C>GCA402719580MC4Rc.549G>C (p.Leu183Phe)
ClinVar dbSNP
18g.60371801C>TCA504305242MC4Rc.549G>A (p.Leu183=)
18g.60371801_60371802delinsCACA2307359140MC4Rc.548_549delinsTG (p.Leu183=)
18g.60371802A>CCA402719581MC4Rc.548T>G (p.Leu183Trp)
18g.60371802A>GCA402719582MC4Rc.548T>C (p.Leu183Ser)
18g.60371802A>TCA402719583MC4Rc.548T>A (p.Leu183Ter)
18g.60371805delCA8980896MC4Rc.548del (p.Leu183CysfsTer?)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371803A>CCA402719584MC4Rc.547T>G (p.Leu183Val)
18g.60371803A>GCA504305252MC4Rc.547T>C (p.Leu183=)
18g.60371803A>TCA402719585MC4Rc.547T>A (p.Leu183Met)
18g.60371804A>CCA402719586MC4Rc.546T>G (p.Ile182Met)
gnomAD v4
18g.60371804A>GCA504305258MC4Rc.546T>C (p.Ile182=)
18g.60371804A>TCA504305259MC4Rc.546T>A (p.Ile182=)
18g.60371805A>CCA402719589MC4Rc.545T>G (p.Ile182Ser)
18g.60371805A>GCA402719588MC4Rc.545T>C (p.Ile182Thr)
18g.60371805A>TCA402719587MC4Rc.545T>A (p.Ile182Asn)
18g.60371806T>ACA402719590MC4Rc.544A>T (p.Ile182Phe)
18g.60371806T>CCA402719591MC4Rc.544A>G (p.Ile182Val)
18g.60371806T>GCA402719592MC4Rc.544A>C (p.Ile182Leu)
18g.60371807G>ACA504305275MC4Rc.543C>T (p.Gly181=)
gnomAD v4
18g.60371807G>CCA301530031MC4Rc.543C>G (p.Gly181=)
dbSNP gnomAD v2 gnomAD v4
18g.60371807G=CA2307359141MC4Rc.543C= (p.Gly181=)
18g.60371807G>TCA504305280MC4Rc.543C>A (p.Gly181=)
18g.60371808C>ACA402719593MC4Rc.542G>T (p.Gly181Val)
18g.60371808C=CA2307359142MC4Rc.542G= (p.Gly181=)
18g.60371808C>GCA402719594MC4Rc.542G>C (p.Gly181Ala)
18g.60371808C>TCA8980897MC4Rc.542G>A (p.Gly181Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371809C>ACA402719595MC4Rc.541G>T (p.Gly181Cys)
COSMIC
18g.60371809C=CA2307359143MC4Rc.541G= (p.Gly181=)
18g.60371809C>GCA301530032MC4Rc.541G>C (p.Gly181Arg)
dbSNP
18g.60371809C>TCA402719596MC4Rc.541G>A (p.Gly181Ser)
18g.60371810T>ACA504305287MC4Rc.540A>T (p.Ser180=)
18g.60371810T>CCA504305290MC4Rc.540A>G (p.Ser180=)
gnomAD v4
18g.60371810T>GCA504305291MC4Rc.540A>C (p.Ser180=)
18g.60371811G>ACA402719597MC4Rc.539C>T (p.Ser180Leu)
18g.60371811G>CCA402719598MC4Rc.539C>G (p.Ser180Ter)
18g.60371811G>TCA402719599MC4Rc.539C>A (p.Ser180Ter)
18g.60371812A=CA2307359144MC4Rc.538T= (p.Ser180=)
18g.60371812A>CCA402719600MC4Rc.538T>G (p.Ser180Ala)
18g.60371812A>GCA214140MC4Rc.538T>C (p.Ser180Pro)
ClinVar dbSNP gnomAD v2 gnomAD v4
18g.60371812A>TCA402719601MC4Rc.538T>A (p.Ser180Thr)
18g.60371813A>CCA504305295MC4Rc.537T>G (p.Val179=)
18g.60371813A>GCA504305296MC4Rc.537T>C (p.Val179=)
18g.60371813A>TCA504305297MC4Rc.537T>A (p.Val179=)
18g.60371814A=CA2307359145MC4Rc.536T= (p.Val179=)
18g.60371814A>CCA402719602MC4Rc.536T>G (p.Val179Gly)
18g.60371814A>GCA402719603MC4Rc.536T>C (p.Val179Ala)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371814A>TCA402719604MC4Rc.536T>A (p.Val179Asp)
18g.60371815C>ACA402719605MC4Rc.535G>T (p.Val179Phe)
18g.60371815C=CA2307359146MC4Rc.535G= (p.Val179=)
18g.60371815C>GCA402719606MC4Rc.535G>C (p.Val179Leu)
18g.60371815C>TCA8980898MC4Rc.535G>A (p.Val179Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371816C>ACA504305306MC4Rc.534G>T (p.Thr178=)
gnomAD v4 COSMIC
18g.60371816C=CA2307359147MC4Rc.534G= (p.Thr178=)
18g.60371816C>GCA8980900MC4Rc.534G>C (p.Thr178=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371816C>TCA8980899MC4Rc.534G>A (p.Thr178=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371817G>ACA8980901MC4Rc.533C>T (p.Thr178Met)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371817G>CCA402719607MC4Rc.533C>G (p.Thr178Arg)
18g.60371817G=CA2307359148MC4Rc.533C= (p.Thr178=)
18g.60371817G>TCA402719608MC4Rc.533C>A (p.Thr178Lys)
18g.60371818T>ACA402719610MC4Rc.532A>T (p.Thr178Ser)
18g.60371818T>CCA402719611MC4Rc.532A>G (p.Thr178Ala)
18g.60371818T>GCA402719609MC4Rc.532A>C (p.Thr178Pro)
18g.60371819G>ACA504305308MC4Rc.531C>T (p.Cys177=)
dbSNP
18g.60371819G>CCA402719612MC4Rc.531C>G (p.Cys177Trp)
18g.60371819G=CA2307359149MC4Rc.531C= (p.Cys177=)
18g.60371819G>TCA402719613MC4Rc.531C>A (p.Cys177Ter)
18g.60371820C>ACA402719614MC4Rc.530G>T (p.Cys177Phe)
ClinVar
18g.60371820C>GCA402719615MC4Rc.530G>C (p.Cys177Ser)
18g.60371820C>TCA402719616MC4Rc.530G>A (p.Cys177Tyr)
18g.60371821A>CCA402719619MC4Rc.529T>G (p.Cys177Gly)
18g.60371821A>GCA402719618MC4Rc.529T>C (p.Cys177Arg)
18g.60371821A>TCA402719617MC4Rc.529T>A (p.Cys177Ser)
18g.60371822A=CA2307359150MC4Rc.528T= (p.Ala176=)
18g.60371822A>CCA504305311MC4Rc.528T>G (p.Ala176=)
dbSNP
18g.60371822A>GCA504305313MC4Rc.528T>C (p.Ala176=)
dbSNP gnomAD v2 gnomAD v4
18g.60371822A>TCA504305315MC4Rc.528T>A (p.Ala176=)
18g.60371823G>ACA8980902MC4Rc.527C>T (p.Ala176Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371823G>CCA402719620MC4Rc.527C>G (p.Ala176Gly)
18g.60371823G=CA2307359151MC4Rc.527C= (p.Ala176=)
18g.60371823G>TCA402719621MC4Rc.527C>A (p.Ala176Asp)
18g.60371824C>ACA402719622MC4Rc.526G>T (p.Ala176Ser)
18g.60371824C>GCA402719623MC4Rc.526G>C (p.Ala176Pro)
18g.60371824C>TCA402719624MC4Rc.526G>A (p.Ala176Thr)
18g.60371825T>ACA504305322MC4Rc.525A>T (p.Ala175=)
18g.60371825T>CCA504305323MC4Rc.525A>G (p.Ala175=)
18g.60371825T>GCA504305325MC4Rc.525A>C (p.Ala175=)
18g.60371826G>ACA402719627MC4Rc.524C>T (p.Ala175Val)
gnomAD v4
18g.60371826G>CCA402719625MC4Rc.524C>G (p.Ala175Gly)
18g.60371826G>TCA402719626MC4Rc.524C>A (p.Ala175Glu)
18g.60371826_60371827delinsGCCA2307359152MC4Rc.523_524delinsGC (p.Ala175=)
18g.60371827C>ACA402719628MC4Rc.523G>T (p.Ala175Ser)
18g.60371827C=CA2307359154MC4Rc.523G= (p.Ala175=)
18g.60371827C>GCA402719629MC4Rc.523G>C (p.Ala175Pro)
18g.60371827C>TCA210719MC4Rc.523G>A (p.Ala175Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371829delCA2307359153MC4Rc.523del (p.Ala175GlnfsTer?)
dbSNP
18g.60371828C>ACA402719630MC4Rc.522G>T (p.Trp174Cys)
18g.60371828C=CA2307359155MC4Rc.522G= (p.Trp174=)
18g.60371828C>GCA402719631MC4Rc.522G>C (p.Trp174Cys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371828C>TCA402719632MC4Rc.522G>A (p.Trp174Ter)
18g.60371829C>ACA402719633MC4Rc.521G>T (p.Trp174Leu)
18g.60371829C=CA2307359156MC4Rc.521G= (p.Trp174=)
18g.60371829C>GCA402719634MC4Rc.521G>C (p.Trp174Ser)
gnomAD v4
18g.60371829C>TCA301530033MC4Rc.521G>A (p.Trp174Ter)
dbSNP
18g.60371830A>CCA402719635MC4Rc.520T>G (p.Trp174Gly)
18g.60371830A>GCA402719636MC4Rc.520T>C (p.Trp174Arg)
gnomAD v4
18g.60371830A>TCA402719637MC4Rc.520T>A (p.Trp174Arg)
18g.60371831G>ACA504305336MC4Rc.519C>T (p.Ile173=)
18g.60371831G>CCA402719638MC4Rc.519C>G (p.Ile173Met)
dbSNP COSMIC
18g.60371831G=CA2307359157MC4Rc.519C= (p.Ile173=)
18g.60371831G>TCA504305341MC4Rc.519C>A (p.Ile173=)
18g.60371832A>CCA402719639MC4Rc.518T>G (p.Ile173Ser)
18g.60371832A>GCA402719641MC4Rc.518T>C (p.Ile173Thr)
gnomAD v4
18g.60371832A>TCA402719640MC4Rc.518T>A (p.Ile173Asn)
gnomAD v4
18g.60371834_60371842delCA2642029301MC4Rc.510_518del (p.Ser171_Ile173del)
gnomAD v4
18g.60371833T>ACA402719642MC4Rc.517A>T (p.Ile173Phe)
18g.60371833T>CCA402719643MC4Rc.517A>G (p.Ile173Val)
gnomAD v4
18g.60371833T>GCA402719644MC4Rc.517A>C (p.Ile173Leu)
18g.60371834A=CA2307359158MC4Rc.516T= (p.Cys172=)
18g.60371834A>CCA402719645MC4Rc.516T>G (p.Cys172Trp)
18g.60371834A>GCA504305349MC4Rc.516T>C (p.Cys172=)
dbSNP
18g.60371834A>TCA402719646MC4Rc.516T>A (p.Cys172Ter)
18g.60371835C>ACA402719649MC4Rc.515G>T (p.Cys172Phe)
18g.60371835C>GCA402719648MC4Rc.515G>C (p.Cys172Ser)
gnomAD v4
18g.60371835C>TCA402719647MC4Rc.515G>A (p.Cys172Tyr)
18g.60371836A>CCA402719650MC4Rc.514T>G (p.Cys172Gly)
18g.60371836A>GCA402719651MC4Rc.514T>C (p.Cys172Arg)
18g.60371836A>TCA402719652MC4Rc.514T>A (p.Cys172Ser)
18g.60371837A=CA2307359159MC4Rc.513T= (p.Ser171=)
18g.60371837A>CCA402719653MC4Rc.513T>G (p.Ser171Arg)
18g.60371837A>GCA8980903MC4Rc.513T>C (p.Ser171=)
dbSNP ExAC gnomAD v2
18g.60371837A>TCA402719654MC4Rc.513T>A (p.Ser171Arg)
18g.60371838C>ACA8980904MC4Rc.512G>T (p.Ser171Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371838C=CA2307359160MC4Rc.512G= (p.Ser171=)
18g.60371838C>GCA402719656MC4Rc.512G>C (p.Ser171Thr)
18g.60371838C>TCA402719655MC4Rc.512G>A (p.Ser171Asn)
dbSNP gnomAD v2 gnomAD v4
18g.60371839T>ACA402719657MC4Rc.511A>T (p.Ser171Cys)
18g.60371839T>CCA8980905MC4Rc.511A>G (p.Ser171Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371839T>GCA402719658MC4Rc.511A>C (p.Ser171Arg)
18g.60371839T=CA2307359161MC4Rc.511A= (p.Ser171=)
18g.60371840T>ACA504305364MC4Rc.510A>T (p.Ile170=)
18g.60371840T>CCA402719659MC4Rc.510A>G (p.Ile170Met)
18g.60371840T>GCA504305368MC4Rc.510A>C (p.Ile170=)
18g.60371841A>CCA402719660MC4Rc.509T>G (p.Ile170Arg)
18g.60371841A>GCA402719661MC4Rc.509T>C (p.Ile170Thr)
18g.60371841A>TCA402719662MC4Rc.509T>A (p.Ile170Lys)
18g.60371846_60371848delCA2642029302MC4Rc.507_509del (p.Ile170del)
gnomAD v4
18g.60371842T>ACA402719663MC4Rc.508A>T (p.Ile170Leu)
18g.60371842T>CCA210716MC4Rc.508A>G (p.Ile170Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371842T>GCA402719664MC4Rc.508A>C (p.Ile170Leu)
dbSNP
18g.60371842T=CA2307359162MC4Rc.508A= (p.Ile170=)
18g.60371843G>ACA504305377MC4Rc.507C>T (p.Ile169=)
gnomAD v4
18g.60371843G>CCA402719665MC4Rc.507C>G (p.Ile169Met)
18g.60371843G>TCA504305373MC4Rc.507C>A (p.Ile169=)
18g.60371844A=CA2307359163MC4Rc.506T= (p.Ile169=)
18g.60371844A>CCA301530034MC4Rc.506T>G (p.Ile169Ser)
dbSNP
18g.60371844A>GCA402719667MC4Rc.506T>C (p.Ile169Thr)
18g.60371844A>TCA402719666MC4Rc.506T>A (p.Ile169Asn)
18g.60371845T>ACA402719669MC4Rc.505A>T (p.Ile169Phe)
18g.60371845T>CCA8980906MC4Rc.505A>G (p.Ile169Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371845T>GCA402719668MC4Rc.505A>C (p.Ile169Leu)
18g.60371845T=CA2307359164MC4Rc.505A= (p.Ile169=)
18g.60371846G>ACA504305383MC4Rc.504C>T (p.Ile168=)
dbSNP gnomAD v4
18g.60371846G>CCA402719670MC4Rc.504C>G (p.Ile168Met)
18g.60371846G=CA2307359165MC4Rc.504C= (p.Ile168=)
18g.60371846G>TCA8980907MC4Rc.504C>A (p.Ile168=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371847A>CCA402719671MC4Rc.503T>G (p.Ile168Ser)
18g.60371847A>GCA402719672MC4Rc.503T>C (p.Ile168Thr)
18g.60371847A>TCA402719673MC4Rc.503T>A (p.Ile168Asn)
18g.60371848T>ACA402719674MC4Rc.502A>T (p.Ile168Phe)
gnomAD v4 COSMIC
18g.60371848T>CCA402719675MC4Rc.502A>G (p.Ile168Val)
18g.60371848T>GCA402719676MC4Rc.502A>C (p.Ile168Leu)
18g.60371849C>ACA504305395MC4Rc.501G>T (p.Gly167=)
COSMIC
18g.60371849C=CA2307359166MC4Rc.501G= (p.Gly167=)
18g.60371849C>GCA504305397MC4Rc.501G>C (p.Gly167=)
18g.60371849C>TCA8980908MC4Rc.501G>A (p.Gly167=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.60371850C>ACA402719677MC4Rc.500G>T (p.Gly167Val)
18g.60371850C>GCA402719678MC4Rc.500G>C (p.Gly167Ala)
18g.60371850C>TCA402719679MC4Rc.500G>A (p.Gly167Glu)
18g.60371851C>ACA402719682MC4Rc.499G>T (p.Gly167Trp)
gnomAD v4
18g.60371851C>GCA402719681MC4Rc.499G>C (p.Gly167Arg)
18g.60371851C>TCA402719680MC4Rc.499G>A (p.Gly167Arg)
18g.60371852A>CCA504305400MC4Rc.498T>G (p.Val166=)
18g.60371852A>GCA504305401MC4Rc.498T>C (p.Val166=)
18g.60371852A>TCA504305403MC4Rc.498T>A (p.Val166=)
18g.60371853A>CCA402719683MC4Rc.497T>G (p.Val166Gly)
18g.60371853A>GCA402719684MC4Rc.497T>C (p.Val166Ala)
18g.60371853A>TCA402719685MC4Rc.497T>A (p.Val166Asp)
18g.60371854C>ACA402719686MC4Rc.496G>T (p.Val166Phe)
18g.60371854C=CA2307359167MC4Rc.496G= (p.Val166=)
18g.60371854C>GCA402719687MC4Rc.496G>C (p.Val166Leu)
18g.60371854C>TCA301530035MC4Rc.496G>A (p.Val166Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.60371855C>ACA504305404MC4Rc.495G>T (p.Arg165=)
18g.60371855C=CA2307359168MC4Rc.495G= (p.Arg165=)
18g.60371855C>GCA504305405MC4Rc.495G>C (p.Arg165=)
18g.60371855C>TCA301530036MC4Rc.495G>A (p.Arg165=)
ClinVar dbSNP gnomAD v4
18g.60371856C>ACA402719688MC4Rc.494G>T (p.Arg165Leu)
18g.60371856C=CA2307359170MC4Rc.494G= (p.Arg165=)
18g.60371856C>GCA402719689MC4Rc.494G>C (p.Arg165Pro)
18g.60371856C>TCA8980909MC4Rc.494G>A (p.Arg165Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60371856_60371857delinsCGCA2307359169MC4Rc.493_494delinsCG (p.Arg165=)
18g.60371857delCA2307359171MC4Rc.493del (p.Arg165GlyfsTer6)
dbSNP
18g.60371857G>ACA8980910MC4Rc.493C>T (p.Arg165Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
18g.60371857G>CCA402719690MC4Rc.493C>G (p.Arg165Gly)
dbSNP
18g.60371857G=CA2307359172MC4Rc.493C= (p.Arg165=)
18g.60371857G>TCA504305410MC4Rc.493C>A (p.Arg165=)
dbSNP gnomAD v2
18g.60371858C>ACA402719691MC4Rc.492G>T (p.Lys164Asn)
18g.60371858C=CA2307359173MC4Rc.492G= (p.Lys164=)
18g.60371858C>GCA402719692MC4Rc.492G>C (p.Lys164Asn)
18g.60371858C>TCA8980911MC4Rc.492G>A (p.Lys164=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371859T>ACA402719694MC4Rc.491A>T (p.Lys164Met)
18g.60371859T>CCA402719695MC4Rc.491A>G (p.Lys164Arg)
gnomAD v4
18g.60371859T>GCA402719693MC4Rc.491A>C (p.Lys164Thr)
18g.60371860T>ACA402719696MC4Rc.490A>T (p.Lys164Ter)
18g.60371860T>CCA402719697MC4Rc.490A>G (p.Lys164Glu)
18g.60371860T>GCA402719698MC4Rc.490A>C (p.Lys164Gln)
gnomAD v4
18g.60371861A>CCA504305417MC4Rc.489T>G (p.Val163=)
18g.60371861A>GCA504305418MC4Rc.489T>C (p.Val163=)
18g.60371861A>TCA504305420MC4Rc.489T>A (p.Val163=)
18g.60371862A>CCA402719699MC4Rc.488T>G (p.Val163Gly)
18g.60371862A>GCA402719700MC4Rc.488T>C (p.Val163Ala)
18g.60371862A>TCA402719701MC4Rc.488T>A (p.Val163Asp)
18g.60371863C>ACA402719702MC4Rc.487G>T (p.Val163Phe)
18g.60371863C>GCA402719703MC4Rc.487G>C (p.Val163Leu)
18g.60371863C>TCA402719704MC4Rc.487G>A (p.Val163Ile)
ClinVar gnomAD v4
18g.60371864T>ACA504305425MC4Rc.486A>T (p.Thr162=)
dbSNP
18g.60371864T>CCA504305426MC4Rc.486A>G (p.Thr162=)
18g.60371864T>GCA504305427MC4Rc.486A>C (p.Thr162=)
18g.60371864T=CA2307359174MC4Rc.486A= (p.Thr162=)
18g.60371865G>ACA402719705MC4Rc.485C>T (p.Thr162Ile)
ClinVar dbSNP gnomAD v4
18g.60371865G>CCA402719706MC4Rc.485C>G (p.Thr162Arg)
gnomAD v4
18g.60371865G=CA2307359175MC4Rc.485C= (p.Thr162=)
18g.60371865G>TCA402719707MC4Rc.485C>A (p.Thr162Lys)
18g.60371866T>ACA402719709MC4Rc.484A>T (p.Thr162Ser)
gnomAD v4
18g.60371866T>CCA402719710MC4Rc.484A>G (p.Thr162Ala)
18g.60371866T>GCA402719708MC4Rc.484A>C (p.Thr162Pro)
18g.60371867C>ACA402719711MC4Rc.483G>T (p.Met161Ile)
gnomAD v4
18g.60371867C>GCA402719712MC4Rc.483G>C (p.Met161Ile)
COSMIC
18g.60371867C>TCA402719713MC4Rc.483G>A (p.Met161Ile)
gnomAD v4
18g.60371868A=CA2307359176MC4Rc.482T= (p.Met161=)
18g.60371868A>CCA402719714MC4Rc.482T>G (p.Met161Arg)
18g.60371868A>GCA8980912MC4Rc.482T>C (p.Met161Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371868A>TCA402719715MC4Rc.482T>A (p.Met161Lys)
gnomAD v4
18g.60371869T>ACA402719716MC4Rc.481A>T (p.Met161Leu)
18g.60371869T>CCA402719718MC4Rc.481A>G (p.Met161Val)
18g.60371869T>GCA402719717MC4Rc.481A>C (p.Met161Leu)
18g.60371870A>CCA402719719MC4Rc.480T>G (p.Ile160Met)
18g.60371870A>GCA504305434MC4Rc.480T>C (p.Ile160=)
gnomAD v4
18g.60371870A>TCA504305436MC4Rc.480T>A (p.Ile160=)
18g.60371871A=CA2307359177MC4Rc.479T= (p.Ile160=)
18g.60371871A>CCA402719720MC4Rc.479T>G (p.Ile160Ser)
18g.60371871A>GCA8980913MC4Rc.479T>C (p.Ile160Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.60371871A>TCA402719721MC4Rc.479T>A (p.Ile160Asn)
18g.60371872T>ACA402719722MC4Rc.478A>T (p.Ile160Phe)
18g.60371872T>CCA402719724MC4Rc.478A>G (p.Ile160Val)
gnomAD v4
18g.60371872T>GCA402719723MC4Rc.478A>C (p.Ile160Leu)
18g.60371873G>ACA504305442MC4Rc.477C>T (p.Asn159=)
18g.60371873G>CCA402719725MC4Rc.477C>G (p.Asn159Lys)
gnomAD v4
18g.60371873G>TCA402719726MC4Rc.477C>A (p.Asn159Lys)

Number of alleles fetched