Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496702_2496707delCA620709064TBC1D24c.554_559del (p.Asp185_Leu186del)
n.736_741del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496706G>ACA493366988TBC1D24c.558G>A (p.Leu186=)
n.740G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496706G>CCA493366990TBC1D24c.558G>C (p.Leu186=)
n.740G>C
16g.2496706G=CA2202259950TBC1D24c.558G= (p.Leu186=)
n.740G=
16g.2496706G>TCA493366992TBC1D24c.558G>T (p.Leu186=)
n.740G>T
16g.2496707G>ACA394376553TBC1D24c.559G>A (p.Val187Met)
n.741G>A
16g.2496707G>CCA394376555TBC1D24c.559G>C (p.Val187Leu)
n.741G>C
16g.2496707G>TCA394376557TBC1D24c.559G>T (p.Val187Leu)
n.741G>T
16g.2496708T>ACA394376560TBC1D24c.560T>A (p.Val187Glu)
n.742T>A
16g.2496708T>CCA394376562TBC1D24c.560T>C (p.Val187Ala)
n.742T>C
16g.2496708T>GCA394376564TBC1D24c.560T>G (p.Val187Gly)
n.742T>G
16g.2496709G>ACA493366997TBC1D24c.561G>A (p.Val187=)
n.743G>A
16g.2496709G>CCA493366998TBC1D24c.561G>C (p.Val187=)
n.743G>C
16g.2496709G=CA2202259951TBC1D24c.561G= (p.Val187=)
n.743G=
16g.2496709G>TCA493366996TBC1D24c.561G>T (p.Val187=)
n.743G>T
ClinVar dbSNP gnomAD v4
16g.2496710A>CCA394376567TBC1D24c.562A>C (p.Asn188His)
n.744A>C
16g.2496710A>GCA394376568TBC1D24c.562A>G (p.Asn188Asp)
n.744A>G
16g.2496710A>TCA394376570TBC1D24c.562A>T (p.Asn188Tyr)
n.744A>T
16g.2496711A>CCA394376573TBC1D24c.563A>C (p.Asn188Thr)
n.745A>C
16g.2496711A>GCA394376574TBC1D24c.563A>G (p.Asn188Ser)
n.745A>G
16g.2496711A>TCA394376576TBC1D24c.563A>T (p.Asn188Ile)
n.745A>T
gnomAD v4
16g.2496712C>ACA394376580TBC1D24c.564C>A (p.Asn188Lys)
n.746C>A
16g.2496712C>GCA394376579TBC1D24c.564C>G (p.Asn188Lys)
n.746C>G
16g.2496712C>TCA493367002TBC1D24c.564C>T (p.Asn188=)
n.746C>T
16g.2496713A>CCA394376581TBC1D24c.565A>C (p.Lys189Gln)
n.747A>C
16g.2496713A>GCA394376582TBC1D24c.565A>G (p.Lys189Glu)
n.747A>G
16g.2496713A>TCA394376584TBC1D24c.565A>T (p.Lys189Ter)
n.747A>T
16g.2496714A=CA2202259952TBC1D24c.566A= (p.Lys189=)
n.748A=
16g.2496714A>CCA394376587TBC1D24c.566A>C (p.Lys189Thr)
n.748A>C
16g.2496714A>GCA394376589TBC1D24c.566A>G (p.Lys189Arg)
n.748A>G
dbSNP gnomAD v4
16g.2496714A>TCA394376592TBC1D24c.566A>T (p.Lys189Met)
n.748A>T
dbSNP
16g.2496715G>ACA493367007TBC1D24c.567G>A (p.Lys189=)
n.749G>A
gnomAD v4
16g.2496715G>CCA394376594TBC1D24c.567G>C (p.Lys189Asn)
n.749G>C
16g.2496715G>TCA394376596TBC1D24c.567G>T (p.Lys189Asn)
n.749G>T
gnomAD v4
16g.2496716delCA2631210258TBC1D24c.568del (p.Tyr190ThrfsTer8)
n.750del
gnomAD v4
16g.2496716T>ACA394376598TBC1D24c.568T>A (p.Tyr190Asn)
n.750T>A
16g.2496716T>CCA394376600TBC1D24c.568T>C (p.Tyr190His)
n.750T>C
gnomAD v4
16g.2496716T>GCA394376602TBC1D24c.568T>G (p.Tyr190Asp)
n.750T>G
16g.2496717A>CCA394376608TBC1D24c.569A>C (p.Tyr190Ser)
n.751A>C
16g.2496717A>GCA394376606TBC1D24c.569A>G (p.Tyr190Cys)
n.751A>G
16g.2496717A>TCA394376605TBC1D24c.569A>T (p.Tyr190Phe)
n.751A>T
16g.2496718C>ACA394376611TBC1D24c.570C>A (p.Tyr190Ter)
n.752C>A
16g.2496718C=CA2202259953TBC1D24c.570C= (p.Tyr190=)
n.752C=
16g.2496718C>GCA394376613TBC1D24c.570C>G (p.Tyr190Ter)
n.752C>G
16g.2496718C>TCA276809628TBC1D24c.570C>T (p.Tyr190=)
n.752C>T
ClinVar dbSNP gnomAD v4
16g.2496719T>ACA394376615TBC1D24c.571T>A (p.Cys191Ser)
n.753T>A
gnomAD v4
16g.2496719T>CCA394376617TBC1D24c.571T>C (p.Cys191Arg)
n.753T>C
ClinVar
16g.2496719T>GCA394376619TBC1D24c.571T>G (p.Cys191Gly)
n.753T>G
16g.2496720G>ACA394376622TBC1D24c.572G>A (p.Cys191Tyr)
n.754G>A
16g.2496720G>CCA394376623TBC1D24c.572G>C (p.Cys191Ser)
n.754G>C
16g.2496720G>TCA394376625TBC1D24c.572G>T (p.Cys191Phe)
n.754G>T
16g.2496721C>ACA394376627TBC1D24c.573C>A (p.Cys191Ter)
n.755C>A
16g.2496721C>GCA394376629TBC1D24c.573C>G (p.Cys191Trp)
n.755C>G
16g.2496721C>TCA493367015TBC1D24c.573C>T (p.Cys191=)
n.755C>T
COSMIC
16g.2496722C>ACA394376631TBC1D24c.574C>A (p.Gln192Lys)
n.756C>A
16g.2496722C>GCA394376632TBC1D24c.574C>G (p.Gln192Glu)
n.756C>G
gnomAD v4
16g.2496722C>TCA394376633TBC1D24c.574C>T (p.Gln192Ter)
n.756C>T
ClinVar dbSNP
16g.2496723A=CA2202259954TBC1D24c.575A= (p.Gln192=)
n.757A=
16g.2496723A>CCA394376636TBC1D24c.575A>C (p.Gln192Pro)
n.757A>C
16g.2496723A>GCA7844024TBC1D24c.575A>G (p.Gln192Arg)
n.757A>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496723A>TCA394376634TBC1D24c.575A>T (p.Gln192Leu)
n.757A>T
16g.2496724G>ACA493367018TBC1D24c.576G>A (p.Gln192=)
n.758G>A
gnomAD v4
16g.2496724G>CCA394376638TBC1D24c.576G>C (p.Gln192His)
n.758G>C
16g.2496724G>TCA394376640TBC1D24c.576G>T (p.Gln192His)
n.758G>T
16g.2496725G>ACA394376641TBC1D24c.577G>A (p.Ala193Thr)
n.759G>A
16g.2496725G>CCA394376643TBC1D24c.577G>C (p.Ala193Pro)
n.759G>C
16g.2496725G>TCA394376645TBC1D24c.577G>T (p.Ala193Ser)
n.759G>T
16g.2496726C>ACA394376647TBC1D24c.578C>A (p.Ala193Glu)
n.760C>A
gnomAD v4
16g.2496726C=CA2202259955TBC1D24c.578C= (p.Ala193=)
n.760C=
16g.2496726C>GCA394376648TBC1D24c.578C>G (p.Ala193Gly)
n.760C>G
16g.2496726C>TCA319027TBC1D24c.578C>T (p.Ala193Val)
n.760C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496727G>ACA493367022TBC1D24c.579G>A (p.Ala193=)
n.761G>A
dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.2496727G>CCA493367023TBC1D24c.579G>C (p.Ala193=)
n.761G>C
16g.2496727G=CA2202259956TBC1D24c.579G= (p.Ala193=)
n.761G=
16g.2496727G>TCA493367025TBC1D24c.579G>T (p.Ala193=)
n.761G>T
ClinVar dbSNP gnomAD v4
16g.2496728G>ACA394376652TBC1D24c.580G>A (p.Ala194Thr)
n.762G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496728G>CCA394376653TBC1D24c.580G>C (p.Ala194Pro)
n.762G>C
16g.2496728G=CA2202259957TBC1D24c.580G= (p.Ala194=)
n.762G=
16g.2496728G>TCA394376654TBC1D24c.580G>T (p.Ala194Ser)
n.762G>T
16g.2496729C>ACA394376661TBC1D24c.581C>A (p.Ala194Asp)
n.763C>A
16g.2496729C=CA2202259958TBC1D24c.581C= (p.Ala194=)
n.763C=
16g.2496729C>GCA394376659TBC1D24c.581C>G (p.Ala194Gly)
n.763C>G
16g.2496729C>TCA394376657TBC1D24c.581C>T (p.Ala194Val)
n.763C>T
ClinVar dbSNP gnomAD v2
16g.2496730C>ACA493367032TBC1D24c.582C>A (p.Ala194=)
n.764C>A
16g.2496730C=CA2202259959TBC1D24c.582C= (p.Ala194=)
n.764C=
16g.2496730C>GCA493367031TBC1D24c.582C>G (p.Ala194=)
n.764C>G
16g.2496730C>TCA493367030TBC1D24c.582C>T (p.Ala194=)
n.764C>T
dbSNP gnomAD v2
16g.2496731C>ACA394376663TBC1D24c.583C>A (p.His195Asn)
n.765C>A
16g.2496731C>GCA394376665TBC1D24c.583C>G (p.His195Asp)
n.765C>G
16g.2496731C>TCA394376667TBC1D24c.583C>T (p.His195Tyr)
n.765C>T
16g.2496732A>CCA394376670TBC1D24c.584A>C (p.His195Pro)
n.766A>C
16g.2496732A>GCA394376671TBC1D24c.584A>G (p.His195Arg)
n.766A>G
16g.2496732A>TCA394376672TBC1D24c.584A>T (p.His195Leu)
n.766A>T
16g.2496733C>ACA394376675TBC1D24c.585C>A (p.His195Gln)
n.767C>A
16g.2496733C>GCA394376677TBC1D24c.585C>G (p.His195Gln)
n.767C>G
ClinVar
16g.2496733C>TCA493367036TBC1D24c.585C>T (p.His195=)
n.767C>T
16g.2496734A>CCA394376679TBC1D24c.586A>C (p.Lys196Gln)
n.768A>C
16g.2496734A>GCA394376681TBC1D24c.586A>G (p.Lys196Glu)
n.768A>G
16g.2496734A>TCA394376683TBC1D24c.586A>T (p.Lys196Ter)
n.768A>T
16g.2496735A=CA2202259960TBC1D24c.587A= (p.Lys196=)
n.769A=
16g.2496735A>CCA394376685TBC1D24c.587A>C (p.Lys196Thr)
n.769A>C
16g.2496735A>GCA7844025TBC1D24c.587A>G (p.Lys196Arg)
n.769A>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496735A>TCA394376688TBC1D24c.587A>T (p.Lys196Met)
n.769A>T
16g.2496736G>ACA493367039TBC1D24c.588G>A (p.Lys196=)
n.770G>A
gnomAD v4
16g.2496736G>CCA394376693TBC1D24c.588G>C (p.Lys196Asn)
n.770G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496736G=CA2202259961TBC1D24c.588G= (p.Lys196=)
n.770G=
16g.2496736G>TCA394376691TBC1D24c.588G>T (p.Lys196Asn)
n.770G>T
16g.2496737C>ACA394376696TBC1D24c.589C>A (p.Leu197Met)
n.771C>A
gnomAD v4
16g.2496737C>GCA394376698TBC1D24c.589C>G (p.Leu197Val)
n.771C>G
16g.2496737C>TCA493367040TBC1D24c.589C>T (p.Leu197=)
n.771C>T
16g.2496738T>ACA394376700TBC1D24c.590T>A (p.Leu197Gln)
n.772T>A
16g.2496738T>CCA394376703TBC1D24c.590T>C (p.Leu197Pro)
n.772T>C
16g.2496738T>GCA394376704TBC1D24c.590T>G (p.Leu197Arg)
n.772T>G
16g.2496739G>ACA493367044TBC1D24c.591G>A (p.Leu197=)
n.773G>A
16g.2496739G>CCA493367045TBC1D24c.591G>C (p.Leu197=)
n.773G>C
16g.2496739G>TCA493367046TBC1D24c.591G>T (p.Leu197=)
n.773G>T
16g.2496740A=CA2202259962TBC1D24c.592A= (p.Met198=)
n.774A=
16g.2496740A>CCA394376706TBC1D24c.592A>C (p.Met198Leu)
n.774A>C
16g.2496740A>GCA394376705TBC1D24c.592A>G (p.Met198Val)
n.774A>G
16g.2496740A>TCA7844026TBC1D24c.592A>T (p.Met198Leu)
n.774A>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496741T>ACA394376707TBC1D24c.593T>A (p.Met198Lys)
n.775T>A
16g.2496741T>CCA394376708TBC1D24c.593T>C (p.Met198Thr)
n.775T>C
16g.2496741T>GCA394376709TBC1D24c.593T>G (p.Met198Arg)
n.775T>G
gnomAD v4
16g.2496742G>ACA394376710TBC1D24c.594G>A (p.Met198Ile)
n.776G>A
16g.2496742G>CCA394376711TBC1D24c.594G>C (p.Met198Ile)
n.776G>C
16g.2496742G>TCA394376712TBC1D24c.594G>T (p.Met198Ile)
n.776G>T
16g.2496743G>ACA394376713TBC1D24c.595G>A (p.Val199Met)
n.777G>A
16g.2496743G>CCA394376715TBC1D24c.595G>C (p.Val199Leu)
n.777G>C
16g.2496743G>TCA394376714TBC1D24c.595G>T (p.Val199Leu)
n.777G>T
16g.2496744T>ACA394376716TBC1D24c.596T>A (p.Val199Glu)
n.778T>A
16g.2496744T>CCA394376717TBC1D24c.596T>C (p.Val199Ala)
n.778T>C
ClinVar
16g.2496744T>GCA394376718TBC1D24c.596T>G (p.Val199Gly)
n.778T>G
16g.2496745G>ACA493367052TBC1D24c.597G>A (p.Val199=)
n.779G>A
16g.2496745G>CCA493367053TBC1D24c.597G>C (p.Val199=)
n.779G>C
16g.2496745G>TCA493367054TBC1D24c.597G>T (p.Val199=)
n.779G>T
16g.2496746G>ACA394376719TBC1D24c.598G>A (p.Ala200Thr)
n.780G>A
gnomAD v4
16g.2496746G>CCA394376720TBC1D24c.598G>C (p.Ala200Pro)
n.780G>C
16g.2496746G>TCA394376721TBC1D24c.598G>T (p.Ala200Ser)
n.780G>T
16g.2496747C>ACA394376722TBC1D24c.599C>A (p.Ala200Asp)
n.781C>A
16g.2496747C=CA2202259963TBC1D24c.599C= (p.Ala200=)
n.781C=
16g.2496747C>GCA394376723TBC1D24c.599C>G (p.Ala200Gly)
n.781C>G
16g.2496747C>TCA7844027TBC1D24c.599C>T (p.Ala200Val)
n.781C>T
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496748C>ACA493367057TBC1D24c.600C>A (p.Ala200=)
n.782C>A
16g.2496748C=CA2202259964TBC1D24c.600C= (p.Ala200=)
n.782C=
16g.2496748C>GCA493367059TBC1D24c.600C>G (p.Ala200=)
n.782C>G
16g.2496748C>TCA7844028TBC1D24c.600C>T (p.Ala200=)
n.782C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496749delCA2631210323TBC1D24c.601del (p.Val201CysfsTer?)
n.783del
gnomAD v4
16g.2496749G>ACA7844029TBC1D24c.601G>A (p.Val201Met)
n.783G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496749G>CCA394376724TBC1D24c.601G>C (p.Val201Leu)
n.783G>C
16g.2496749G=CA2202259965TBC1D24c.601G= (p.Val201=)
n.783G=
16g.2496749G>TCA394376725TBC1D24c.601G>T (p.Val201Leu)
n.783G>T
16g.2496750T>ACA394376726TBC1D24c.602T>A (p.Val201Glu)
n.784T>A
16g.2496750T>CCA394376728TBC1D24c.602T>C (p.Val201Ala)
n.784T>C
16g.2496750T>GCA394376727TBC1D24c.602T>G (p.Val201Gly)
n.784T>G
16g.2496751G>ACA493367064TBC1D24c.603G>A (p.Val201=)
n.785G>A
16g.2496751G>CCA493367066TBC1D24c.603G>C (p.Val201=)
n.785G>C
16g.2496751G>TCA493367065TBC1D24c.603G>T (p.Val201=)
n.785G>T
16g.2496752T>ACA394376729TBC1D24c.604T>A (p.Ser202Thr)
n.786T>A
16g.2496752T>CCA394376730TBC1D24c.604T>C (p.Ser202Pro)
n.786T>C
16g.2496752T>GCA394376731TBC1D24c.604T>G (p.Ser202Ala)
n.786T>G
16g.2496753C>ACA394376732TBC1D24c.605C>A (p.Ser202Ter)
n.787C>A
dbSNP gnomAD v3 gnomAD v4
16g.2496753C=CA2202259966TBC1D24c.605C= (p.Ser202=)
n.787C=
16g.2496753C>GCA394376733TBC1D24c.605C>G (p.Ser202Trp)
n.787C>G
16g.2496753C>TCA319029TBC1D24c.605C>T (p.Ser202Leu)
n.787C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496754G>ACA7844030TBC1D24c.606G>A (p.Ser202=)
n.788G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496754G>CCA493367069TBC1D24c.606G>C (p.Ser202=)
n.788G>C
16g.2496754G=CA2202259967TBC1D24c.606G= (p.Ser202=)
n.788G=
16g.2496754G>TCA493367071TBC1D24c.606G>T (p.Ser202=)
n.788G>T
16g.2496755G>ACA394376734TBC1D24c.607G>A (p.Glu203Lys)
n.789G>A
16g.2496755G>CCA394376735TBC1D24c.607G>C (p.Glu203Gln)
n.789G>C
16g.2496755G>TCA394376736TBC1D24c.607G>T (p.Glu203Ter)
n.789G>T
16g.2496756A>CCA394376739TBC1D24c.608A>C (p.Glu203Ala)
n.790A>C
16g.2496756A>GCA394376738TBC1D24c.608A>G (p.Glu203Gly)
n.790A>G
16g.2496756A>TCA394376737TBC1D24c.608A>T (p.Glu203Val)
n.790A>T
16g.2496757G>ACA493367072TBC1D24c.609G>A (p.Glu203=)
n.791G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496757G>CCA394376740TBC1D24c.609G>C (p.Glu203Asp)
n.791G>C
16g.2496757G=CA2202259968TBC1D24c.609G= (p.Glu203=)
n.791G=
16g.2496757G>TCA394376741TBC1D24c.609G>T (p.Glu203Asp)
n.791G>T
16g.2496758G>ACA394376742TBC1D24c.610G>A (p.Asp204Asn)
n.792G>A
16g.2496758G>CCA394376744TBC1D24c.610G>C (p.Asp204His)
n.792G>C
16g.2496758G>TCA394376743TBC1D24c.610G>T (p.Asp204Tyr)
n.792G>T
16g.2496759A>CCA394376745TBC1D24c.611A>C (p.Asp204Ala)
n.793A>C
16g.2496759A>GCA394376746TBC1D24c.611A>G (p.Asp204Gly)
n.793A>G
gnomAD v4
16g.2496759A>TCA394376747TBC1D24c.611A>T (p.Asp204Val)
n.793A>T
16g.2496760T>ACA394376748TBC1D24c.612T>A (p.Asp204Glu)
n.794T>A
16g.2496760T>CCA493367075TBC1D24c.612T>C (p.Asp204=)
n.794T>C
ClinVar gnomAD v4
16g.2496760T>GCA394376749TBC1D24c.612T>G (p.Asp204Glu)
n.794T>G
16g.2496761G>ACA394376750TBC1D24c.613G>A (p.Val205Ile)
n.795G>A
16g.2496761G>CCA394376751TBC1D24c.613G>C (p.Val205Leu)
n.795G>C
16g.2496761G>TCA394376752TBC1D24c.613G>T (p.Val205Phe)
n.795G>T
gnomAD v4
16g.2496762T>ACA394376753TBC1D24c.614T>A (p.Val205Asp)
n.796T>A
16g.2496762T>CCA394376754TBC1D24c.614T>C (p.Val205Ala)
n.796T>C
16g.2496762T>GCA394376755TBC1D24c.614T>G (p.Val205Gly)
n.796T>G
16g.2496763C>ACA493367078TBC1D24c.615C>A (p.Val205=)
n.797C>A
16g.2496763C>GCA493367081TBC1D24c.615C>G (p.Val205=)
n.797C>G
16g.2496763C>TCA493367079TBC1D24c.615C>T (p.Val205=)
n.797C>T
16g.2496764C>ACA394376757TBC1D24c.616C>A (p.Leu206Met)
n.798C>A
16g.2496764C=CA2202259969TBC1D24c.616C= (p.Leu206=)
n.798C=
16g.2496764C>GCA394376756TBC1D24c.616C>G (p.Leu206Val)
n.798C>G
16g.2496764C>TCA493366782TBC1D24c.616C>T (p.Leu206=)
n.798C>T
dbSNP gnomAD v2
16g.2496765T>ACA394376758TBC1D24c.617T>A (p.Leu206Gln)
n.799T>A
16g.2496765T>CCA394376759TBC1D24c.617T>C (p.Leu206Pro)
n.799T>C
16g.2496765T>GCA394376760TBC1D24c.617T>G (p.Leu206Arg)
n.799T>G
16g.2496766G>ACA493366786TBC1D24c.618G>A (p.Leu206=)
n.800G>A
16g.2496766G>CCA493366787TBC1D24c.618G>C (p.Leu206=)
n.800G>C
16g.2496766G>TCA493366788TBC1D24c.618G>T (p.Leu206=)
n.800G>T
16g.2496767C>ACA7844032TBC1D24c.619C>A (p.Gln207Lys)
n.801C>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496767C=CA2202259970TBC1D24c.619C= (p.Gln207=)
n.801C=
16g.2496767C>GCA394376761TBC1D24c.619C>G (p.Gln207Glu)
n.801C>G
gnomAD v4
16g.2496767C>TCA7844031TBC1D24c.619C>T (p.Gln207Ter)
n.801C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496768A=CA2202259972TBC1D24c.620A= (p.Gln207=)
n.802A=
16g.2496768A>CCA394376762TBC1D24c.620A>C (p.Gln207Pro)
n.802A>C
16g.2496768A>GCA394376763TBC1D24c.620A>G (p.Gln207Arg)
n.802A>G
gnomAD v4
16g.2496768A>TCA394376764TBC1D24c.620A>T (p.Gln207Leu)
n.802A>T
dbSNP
16g.2496768_2496769insCCTACA2202259971TBC1D24c.620_621insCCTA (p.Gln207HisfsTer25)
n.802_803insCCTA
dbSNP
16g.2496769G>ACA493366791TBC1D24c.621G>A (p.Gln207=)
n.803G>A
16g.2496769G>CCA10577006TBC1D24c.621G>C (p.Gln207His)
n.803G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496769G=CA2202259973TBC1D24c.621G= (p.Gln207=)
n.803G=
16g.2496769G>TCA394376765TBC1D24c.621G>T (p.Gln207His)
n.803G>T
16g.2496770G>ACA394376768TBC1D24c.622G>A (p.Val208Ile)
n.804G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496770G>CCA394376767TBC1D24c.622G>C (p.Val208Leu)
n.804G>C
16g.2496770G=CA2202259974TBC1D24c.622G= (p.Val208=)
n.804G=
16g.2496770G>TCA394376766TBC1D24c.622G>T (p.Val208Phe)
n.804G>T
16g.2496771T>ACA394376769TBC1D24c.623T>A (p.Val208Asp)
n.805T>A
16g.2496771T>CCA394376770TBC1D24c.623T>C (p.Val208Ala)
n.805T>C
16g.2496771T>GCA394376771TBC1D24c.623T>G (p.Val208Gly)
n.805T>G
16g.2496772C>ACA493366793TBC1D24c.624C>A (p.Val208=)
n.806C>A
16g.2496772C>GCA493366794TBC1D24c.624C>G (p.Val208=)
n.806C>G
16g.2496772C>TCA493366797TBC1D24c.624C>T (p.Val208=)
n.806C>T
ClinVar
16g.2496773T>ACA394376772TBC1D24c.625T>A (p.Tyr209Asn)
n.807T>A
16g.2496773T>CCA394376773TBC1D24c.625T>C (p.Tyr209His)
n.807T>C
16g.2496773T>GCA394376774TBC1D24c.625T>G (p.Tyr209Asp)
n.807T>G
16g.2496774A=CA2202259975TBC1D24c.626A= (p.Tyr209=)
n.808A=
16g.2496774A>CCA394376775TBC1D24c.626A>C (p.Tyr209Ser)
n.808A>C
dbSNP gnomAD v4
16g.2496774A>GCA394376776TBC1D24c.626A>G (p.Tyr209Cys)
n.808A>G
16g.2496774A>TCA394376777TBC1D24c.626A>T (p.Tyr209Phe)
n.808A>T
16g.2496775T>ACA394376778TBC1D24c.627T>A (p.Tyr209Ter)
n.809T>A
16g.2496775T>CCA7844033TBC1D24c.627T>C (p.Tyr209=)
n.809T>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496775T>GCA394376779TBC1D24c.627T>G (p.Tyr209Ter)
n.809T>G
16g.2496775T=CA2202259976TBC1D24c.627T= (p.Tyr209=)
n.809T=
16g.2496776G>ACA394376782TBC1D24c.628G>A (p.Ala210Thr)
n.810G>A
ClinVar dbSNP
16g.2496776G>CCA394376780TBC1D24c.628G>C (p.Ala210Pro)
n.810G>C
16g.2496776G>TCA394376781TBC1D24c.628G>T (p.Ala210Ser)
n.810G>T
16g.2496777C>ACA394376783TBC1D24c.629C>A (p.Ala210Glu)
n.811C>A
16g.2496777C=CA2202259977TBC1D24c.629C= (p.Ala210=)
n.811C=
16g.2496777C>GCA394376784TBC1D24c.629C>G (p.Ala210Gly)
n.811C>G
16g.2496777C>TCA7844034TBC1D24c.629C>T (p.Ala210Val)
n.811C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.2496778G>ACA318991TBC1D24c.630G>A (p.Ala210=)
n.812G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496778G>CCA493366803TBC1D24c.630G>C (p.Ala210=)
n.812G>C
dbSNP gnomAD v2 gnomAD v4
16g.2496778G=CA2202259978TBC1D24c.630G= (p.Ala210=)
n.812G=
16g.2496778G>TCA493366805TBC1D24c.630G>T (p.Ala210=)
n.812G>T
16g.2496779G>ACA394376785TBC1D24c.631G>A (p.Asp211Asn)
n.813G>A
ClinVar dbSNP gnomAD v4
16g.2496779G>CCA394376786TBC1D24c.631G>C (p.Asp211His)
n.813G>C
16g.2496779G=CA2202259979TBC1D24c.631G= (p.Asp211=)
n.813G=
16g.2496779G>TCA394376787TBC1D24c.631G>T (p.Asp211Tyr)
n.813G>T
16g.2496780A=CA2202259980TBC1D24c.632A= (p.Asp211=)
n.814A=
16g.2496780A>CCA394376788TBC1D24c.632A>C (p.Asp211Ala)
n.814A>C
gnomAD v4
16g.2496780A>GCA394376789TBC1D24c.632A>G (p.Asp211Gly)
n.814A>G
ClinVar dbSNP
16g.2496780A>TCA394376790TBC1D24c.632A>T (p.Asp211Val)
n.814A>T
16g.2496781C>ACA394376791TBC1D24c.633C>A (p.Asp211Glu)
n.815C>A
16g.2496781C>GCA394376792TBC1D24c.633C>G (p.Asp211Glu)
n.815C>G
16g.2496781C>TCA493366807TBC1D24c.633C>T (p.Asp211=)
n.815C>T
gnomAD v4
16g.2496782T>ACA394376794TBC1D24c.634T>A (p.Trp212Arg)
n.816T>A
16g.2496782T>CCA394376795TBC1D24c.634T>C (p.Trp212Arg)
n.816T>C
gnomAD v4
16g.2496782T>GCA394376793TBC1D24c.634T>G (p.Trp212Gly)
n.816T>G
gnomAD v4
16g.2496783G>ACA394376798TBC1D24c.635G>A (p.Trp212Ter)
n.817G>A
16g.2496783G>CCA394376796TBC1D24c.635G>C (p.Trp212Ser)
n.817G>C
16g.2496783G>TCA394376797TBC1D24c.635G>T (p.Trp212Leu)
n.817G>T
16g.2496784G>ACA394376799TBC1D24c.636G>A (p.Trp212Ter)
n.818G>A
ClinVar dbSNP
16g.2496784G>CCA394376800TBC1D24c.636G>C (p.Trp212Cys)
n.818G>C
16g.2496784G>TCA394376801TBC1D24c.636G>T (p.Trp212Cys)
n.818G>T
gnomAD v4
16g.2496785C>ACA394376802TBC1D24c.637C>A (p.Gln213Lys)
n.819C>A
16g.2496785C>GCA394376803TBC1D24c.637C>G (p.Gln213Glu)
n.819C>G
16g.2496785C>TCA394376804TBC1D24c.637C>T (p.Gln213Ter)
n.819C>T
16g.2496790_2496941delCA2499223458TBC1D24c.642_793del (p.Trp215GlufsTer18)
n.824_975del
ClinVar dbSNP
16g.2496786A>CCA394376805TBC1D24c.638A>C (p.Gln213Pro)
n.820A>C
16g.2496786A>GCA394376806TBC1D24c.638A>G (p.Gln213Arg)
n.820A>G
gnomAD v4
16g.2496786A>TCA394376807TBC1D24c.638A>T (p.Gln213Leu)
n.820A>T
16g.2496787G>ACA493366813TBC1D24c.639G>A (p.Gln213=)
n.821G>A
dbSNP gnomAD v2
16g.2496787G>CCA394376808TBC1D24c.639G>C (p.Gln213His)
n.821G>C
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496787G=CA2202259981TBC1D24c.639G= (p.Gln213=)
n.821G=
16g.2496787G>TCA394376809TBC1D24c.639G>T (p.Gln213His)
n.821G>T
16g.2496788C>ACA394376810TBC1D24c.640C>A (p.Arg214Ser)
n.822C>A
16g.2496788C=CA2202259982TBC1D24c.640C= (p.Arg214=)
n.822C=
16g.2496788C>GCA7844035TBC1D24c.640C>G (p.Arg214Gly)
n.822C>G
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496788C>TCA7844036TBC1D24c.640C>T (p.Arg214Cys)
n.822C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496789G>ACA289069TBC1D24c.641G>A (p.Arg214His)
n.823G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496789G>CCA394376811TBC1D24c.641G>C (p.Arg214Pro)
n.823G>C
16g.2496789G=CA2202259983TBC1D24c.641G= (p.Arg214=)
n.823G=
16g.2496789G>TCA394376812TBC1D24c.641G>T (p.Arg214Leu)
n.823G>T
dbSNP COSMIC
16g.2496789_2496790insTGAAGCAGGACATCA7844037TBC1D24c.641_642insTGAAGCAGGACAT (p.Trp215GlufsTer20)
n.823_824insTGAAGCAGGACAT
dbSNP ExAC
16g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGTCA620709058TBC1D24c.641_642insTGAAGCAGGACATCCGCACGTTCGT (p.Trp215GlufsTer24)
n.823_824insTGAAGCAGGACATCCGCACGTTCGT
gnomAD v2 gnomAD v4
16g.2496789_2496790insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGACA2631210468TBC1D24c.641_642insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA (p.Arg214_Trp215insGluAlaGlyHisProHisValArgGlnArgHisArgGluAsp)
n.823_824insTGAAGCAGGACATCCGCACGTTCGTCAGAGACATCGCGAAGA
gnomAD v4
16g.2496790C>ACA493366820TBC1D24c.642C>A (p.Arg214=)
n.824C>A
16g.2496790C=CA2202259984TBC1D24c.642C= (p.Arg214=)
n.824C=
16g.2496790C>GCA493366818TBC1D24c.642C>G (p.Arg214=)
n.824C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496790C>TCA276809629TBC1D24c.642C>T (p.Arg214=)
n.824C>T
dbSNP
16g.2496791T>ACA394376813TBC1D24c.643T>A (p.Trp215Arg)
n.825T>A
dbSNP gnomAD v2 gnomAD v4
16g.2496791T>CCA7844038TBC1D24c.643T>C (p.Trp215Arg)
n.825T>C
dbSNP ExAC
16g.2496791T>GCA394376814TBC1D24c.643T>G (p.Trp215Gly)
n.825T>G
ClinVar dbSNP gnomAD v3 gnomAD v4
16g.2496791T=CA2202259985TBC1D24c.643T= (p.Trp215=)
n.825T=
16g.2496792G>ACA394376815TBC1D24c.644G>A (p.Trp215Ter)
n.826G>A
16g.2496792G>CCA394376816TBC1D24c.644G>C (p.Trp215Ser)
n.826G>C
16g.2496792G>TCA394376817TBC1D24c.644G>T (p.Trp215Leu)
n.826G>T
16g.2496793_2496803delCA2575883965TBC1D24c.645_655del (p.Trp215Ter)
n.827_837del
16g.2496793G>ACA394376818TBC1D24c.645G>A (p.Trp215Ter)
n.827G>A
16g.2496793G>CCA394376819TBC1D24c.645G>C (p.Trp215Cys)
n.827G>C
16g.2496793G>TCA394376820TBC1D24c.645G>T (p.Trp215Cys)
n.827G>T
16g.2496794C>ACA394376821TBC1D24c.646C>A (p.Leu216Met)
n.828C>A
16g.2496794C=CA2202259986TBC1D24c.646C= (p.Leu216=)
n.828C=
16g.2496794C>GCA394376822TBC1D24c.646C>G (p.Leu216Val)
n.828C>G
16g.2496794C>TCA493366822TBC1D24c.646C>T (p.Leu216=)
n.828C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496795T>ACA394376823TBC1D24c.647T>A (p.Leu216Gln)
n.829T>A
16g.2496795T>CCA394376824TBC1D24c.647T>C (p.Leu216Pro)
n.829T>C
16g.2496795T>GCA394376825TBC1D24c.647T>G (p.Leu216Arg)
n.829T>G
16g.2496795T=CA2202259987TBC1D24c.647T= (p.Leu216=)
n.829T=
16g.2496796G>ACA7844039TBC1D24c.648G>A (p.Leu216=)
n.830G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496796G>CCA16607235TBC1D24c.648G>C (p.Leu216=)
n.830G>C
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496796G=CA2202259988TBC1D24c.648G= (p.Leu216=)
n.830G=
16g.2496796G>TCA493366824TBC1D24c.648G>T (p.Leu216=)
n.830G>T
16g.2496796dupCA276809630TBC1D24c.648dup (p.Phe217ValfsTer14)
n.830dup
dbSNP
16g.2496797T>ACA394376828TBC1D24c.649T>A (p.Phe217Ile)
n.831T>A
16g.2496797T>CCA394376827TBC1D24c.649T>C (p.Phe217Leu)
n.831T>C
16g.2496797T>GCA394376826TBC1D24c.649T>G (p.Phe217Val)
n.831T>G
16g.2496798T>ACA394376829TBC1D24c.650T>A (p.Phe217Tyr)
n.832T>A
ClinVar dbSNP gnomAD v4
16g.2496798T>CCA394376830TBC1D24c.650T>C (p.Phe217Ser)
n.832T>C
16g.2496798T>GCA394376831TBC1D24c.650T>G (p.Phe217Cys)
n.832T>G
16g.2496798T=CA2202259989TBC1D24c.650T= (p.Phe217=)
n.832T=
16g.2496799T>ACA394376832TBC1D24c.651T>A (p.Phe217Leu)
n.833T>A
16g.2496799T>CCA7844040TBC1D24c.651T>C (p.Phe217=)
n.833T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496799T>GCA394376833TBC1D24c.651T>G (p.Phe217Leu)
n.833T>G
16g.2496799T=CA2202259990TBC1D24c.651T= (p.Phe217=)
n.833T=
16g.2496800G>ACA394376834TBC1D24c.652G>A (p.Gly218Arg)
n.834G>A
16g.2496800G>CCA394376836TBC1D24c.652G>C (p.Gly218Arg)
n.834G>C
16g.2496800G>TCA394376835TBC1D24c.652G>T (p.Gly218Trp)
n.834G>T
gnomAD v4
16g.2496801G>ACA394376837TBC1D24c.653G>A (p.Gly218Glu)
n.835G>A
16g.2496801G>CCA394376838TBC1D24c.653G>C (p.Gly218Ala)
n.835G>C
dbSNP
16g.2496801G=CA2202259991TBC1D24c.653G= (p.Gly218=)
n.835G=
16g.2496801G>TCA394376839TBC1D24c.653G>T (p.Gly218Val)
n.835G>T
16g.2496802G>ACA493366825TBC1D24c.654G>A (p.Gly218=)
n.836G>A
16g.2496802G>CCA493366826TBC1D24c.654G>C (p.Gly218=)
n.836G>C
gnomAD v4
16g.2496802G>TCA493366827TBC1D24c.654G>T (p.Gly218=)
n.836G>T
16g.2496803G>ACA394376840TBC1D24c.655G>A (p.Glu219Lys)
n.837G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496803G>CCA394376841TBC1D24c.655G>C (p.Glu219Gln)
n.837G>C
16g.2496803G=CA2202259992TBC1D24c.655G= (p.Glu219=)
n.837G=
16g.2496803G>TCA394376842TBC1D24c.655G>T (p.Glu219Ter)
n.837G>T
16g.2496804A>CCA394376843TBC1D24c.656A>C (p.Glu219Ala)
n.838A>C
16g.2496804A>GCA394376844TBC1D24c.656A>G (p.Glu219Gly)
n.838A>G
gnomAD v4
16g.2496804A>TCA394376845TBC1D24c.656A>T (p.Glu219Val)
n.838A>T
16g.2496805G>ACA293863TBC1D24c.657G>A (p.Glu219=)
n.839G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496805G>CCA394376846TBC1D24c.657G>C (p.Glu219Asp)
n.839G>C
16g.2496805G=CA2202259993TBC1D24c.657G= (p.Glu219=)
n.839G=
16g.2496805G>TCA394376847TBC1D24c.657G>T (p.Glu219Asp)
n.839G>T
16g.2496806C>ACA394376848TBC1D24c.658C>A (p.Leu220Met)
n.840C>A
16g.2496806C>GCA394376849TBC1D24c.658C>G (p.Leu220Val)
n.840C>G
16g.2496806C>TCA493366828TBC1D24c.658C>T (p.Leu220=)
n.840C>T

Number of alleles fetched