Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2496790_2496941delCA2499223458TBC1D24c.642_793del (p.Trp215GlufsTer18)
n.824_975del
ClinVar dbSNP
16g.2496826C>ACA493366839TBC1D24c.678C>A (p.Ala226=)
n.860C>A
16g.2496826C>GCA493366841TBC1D24c.678C>G (p.Ala226=)
n.860C>G
16g.2496826C>TCA493366840TBC1D24c.678C>T (p.Ala226=)
n.860C>T
16g.2496827C>ACA493366842TBC1D24c.679C>A (p.Arg227=)
n.861C>A
16g.2496827C=CA2202260004TBC1D24c.679C= (p.Arg227=)
n.861C=
16g.2496827C>GCA394376891TBC1D24c.679C>G (p.Arg227Gly)
n.861C>G
dbSNP gnomAD v3 gnomAD v4
16g.2496827C>TCA7844044TBC1D24c.679C>T (p.Arg227Trp)
n.861C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496828G>ACA7844045TBC1D24c.680G>A (p.Arg227Gln)
n.862G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496828G>CCA394376892TBC1D24c.680G>C (p.Arg227Pro)
n.862G>C
16g.2496828G=CA2202260005TBC1D24c.680G= (p.Arg227=)
n.862G=
16g.2496828G>TCA319035TBC1D24c.680G>T (p.Arg227Leu)
n.862G>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496829G>ACA493366843TBC1D24c.681G>A (p.Arg227=)
n.863G>A
16g.2496829G>CCA493366844TBC1D24c.681G>C (p.Arg227=)
n.863G>C
16g.2496829G>TCA493366845TBC1D24c.681G>T (p.Arg227=)
n.863G>T
16g.2496830G>ACA394376893TBC1D24c.682G>A (p.Val228Ile)
n.864G>A
16g.2496830G>CCA394376894TBC1D24c.682G>C (p.Val228Leu)
n.864G>C
16g.2496830G>TCA394376895TBC1D24c.682G>T (p.Val228Phe)
n.864G>T
16g.2496831T>ACA7844046TBC1D24c.683T>A (p.Val228Asp)
n.865T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496831T>CCA394376896TBC1D24c.683T>C (p.Val228Ala)
n.865T>C
16g.2496831T>GCA394376897TBC1D24c.683T>G (p.Val228Gly)
n.865T>G
dbSNP
16g.2496831T=CA2202260006TBC1D24c.683T= (p.Val228=)
n.865T=
16g.2496832C>ACA493366846TBC1D24c.684C>A (p.Val228=)
n.866C>A
gnomAD v4
16g.2496832C=CA2202260007TBC1D24c.684C= (p.Val228=)
n.866C=
16g.2496832C>GCA493366847TBC1D24c.684C>G (p.Val228=)
n.866C>G
gnomAD v4
16g.2496832C>TCA493366848TBC1D24c.684C>T (p.Val228=)
n.866C>T
dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.2496833T>ACA394376898TBC1D24c.685T>A (p.Phe229Ile)
n.867T>A
16g.2496833T>CCA394376899TBC1D24c.685T>C (p.Phe229Leu)
n.867T>C
16g.2496833T>GCA394376900TBC1D24c.685T>G (p.Phe229Val)
n.867T>G
16g.2496834T>ACA394376902TBC1D24c.686T>A (p.Phe229Tyr)
n.868T>A
16g.2496834T>CCA344789TBC1D24c.686T>C (p.Phe229Ser)
n.868T>C
ClinVar dbSNP gnomAD v4
16g.2496834T>GCA394376901TBC1D24c.686T>G (p.Phe229Cys)
n.868T>G
16g.2496834T=CA2202260008TBC1D24c.686T= (p.Phe229=)
n.868T=
16g.2496835T>ACA394376904TBC1D24c.687T>A (p.Phe229Leu)
n.869T>A
16g.2496835T>CCA493366849TBC1D24c.687T>C (p.Phe229=)
n.869T>C
16g.2496835T>GCA394376903TBC1D24c.687T>G (p.Phe229Leu)
n.869T>G
16g.2496836G>ACA394376905TBC1D24c.688G>A (p.Asp230Asn)
n.870G>A
16g.2496836G>CCA394376906TBC1D24c.688G>C (p.Asp230His)
n.870G>C
16g.2496836G>TCA394376907TBC1D24c.688G>T (p.Asp230Tyr)
n.870G>T
16g.2496837A>CCA394376908TBC1D24c.689A>C (p.Asp230Ala)
n.871A>C
16g.2496837A>GCA394376909TBC1D24c.689A>G (p.Asp230Gly)
n.871A>G
16g.2496837A>TCA394376910TBC1D24c.689A>T (p.Asp230Val)
n.871A>T
16g.2496838C>ACA394376911TBC1D24c.690C>A (p.Asp230Glu)
n.872C>A
16g.2496838C=CA2202260009TBC1D24c.690C= (p.Asp230=)
n.872C=
16g.2496838C>GCA394376912TBC1D24c.690C>G (p.Asp230Glu)
n.872C>G
16g.2496838C>TCA7844047TBC1D24c.690C>T (p.Asp230=)
n.872C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496838_2496840delinsCGTCA2202260011TBC1D24c.690_692delinsCGT (p.Asp230=)
n.872_874delinsCGT
16g.2496838_2496848delinsCGTCTTCCTGGCA2202260010TBC1D24c.690_700delinsCGTCTTCCTGG (p.Asp230=)
n.872_882delinsCGTCTTCCTGG
16g.2496838_2496839insAAAGACA2631210592TBC1D24c.690_691insAAAGA (p.Val231LysfsTer26)
n.872_873insAAAGA
gnomAD v4
16g.2496839delCA2631210597TBC1D24c.691del (p.Val231SerfsTer24)
n.873del
gnomAD v4
16g.2496839G>ACA7844048TBC1D24c.691G>A (p.Val231Ile)
n.873G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496839G>CCA394376913TBC1D24c.691G>C (p.Val231Leu)
n.873G>C
16g.2496839G=CA2202260012TBC1D24c.691G= (p.Val231=)
n.873G=
16g.2496839G>TCA394376914TBC1D24c.691G>T (p.Val231Phe)
n.873G>T
16g.2496839_2496840delCA620709059TBC1D24c.691_692del (p.Val231LeufsTer?)
n.873_874del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496839_2496848delinsCTTCA319071TBC1D24c.691_700delinsCTT (p.Val231LeufsTer22)
n.873_882delinsCTT
ClinVar dbSNP
16g.2496840T>ACA394376919TBC1D24c.692T>A (p.Val231Asp)
n.874T>A
16g.2496840T>CCA394376915TBC1D24c.692T>C (p.Val231Ala)
n.874T>C
16g.2496840T>GCA394376917TBC1D24c.692T>G (p.Val231Gly)
n.874T>G
16g.2496841C>ACA493366850TBC1D24c.693C>A (p.Val231=)
n.875C>A
gnomAD v4
16g.2496841C=CA2202260013TBC1D24c.693C= (p.Val231=)
n.875C=
16g.2496841C>GCA276809633TBC1D24c.693C>G (p.Val231=)
n.875C>G
dbSNP gnomAD v4
16g.2496841C>TCA493366851TBC1D24c.693C>T (p.Val231=)
n.875C>T
16g.2496842T>ACA394376921TBC1D24c.694T>A (p.Phe232Ile)
n.876T>A
16g.2496842T>CCA394376923TBC1D24c.694T>C (p.Phe232Leu)
n.876T>C
16g.2496842T>GCA394376925TBC1D24c.694T>G (p.Phe232Val)
n.876T>G
16g.2496843T>ACA394376928TBC1D24c.695T>A (p.Phe232Tyr)
n.877T>A
16g.2496843T>CCA394376930TBC1D24c.695T>C (p.Phe232Ser)
n.877T>C
16g.2496843T>GCA394376931TBC1D24c.695T>G (p.Phe232Cys)
n.877T>G
16g.2496843_2496848delinsTCCTGGCA2202260014TBC1D24c.695_700delinsTCCTGG (p.Phe232=)
n.877_882delinsTCCTGG
16g.2496844C>ACA394376935TBC1D24c.696C>A (p.Phe232Leu)
n.878C>A
16g.2496844C>GCA394376936TBC1D24c.696C>G (p.Phe232Leu)
n.878C>G
16g.2496844C>TCA493366853TBC1D24c.696C>T (p.Phe232=)
n.878C>T
COSMIC
16g.2496844_2496848delCA620709061TBC1D24c.696_700del (p.Leu233GlyfsTer?)
n.878_882del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496845C>ACA394376939TBC1D24c.697C>A (p.Leu233Met)
n.879C>A
16g.2496845C>GCA394376941TBC1D24c.697C>G (p.Leu233Val)
n.879C>G
16g.2496845C>TCA493366854TBC1D24c.697C>T (p.Leu233=)
n.879C>T
COSMIC
16g.2496846T>ACA394376942TBC1D24c.698T>A (p.Leu233Gln)
n.880T>A
16g.2496846T>CCA394376943TBC1D24c.698T>C (p.Leu233Pro)
n.880T>C
16g.2496846T>GCA394376945TBC1D24c.698T>G (p.Leu233Arg)
n.880T>G
16g.2496847G>ACA493366856TBC1D24c.699G>A (p.Leu233=)
n.881G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496847G>CCA493366857TBC1D24c.699G>C (p.Leu233=)
n.881G>C
16g.2496847G=CA2202260015TBC1D24c.699G= (p.Leu233=)
n.881G=
16g.2496847G>TCA493366858TBC1D24c.699G>T (p.Leu233=)
n.881G>T
16g.2496848G>ACA394376948TBC1D24c.700G>A (p.Val234Met)
n.882G>A
16g.2496848G>CCA394376952TBC1D24c.700G>C (p.Val234Leu)
n.882G>C
16g.2496848G>TCA394376949TBC1D24c.700G>T (p.Val234Leu)
n.882G>T
ClinVar
16g.2496849T>ACA394376954TBC1D24c.701T>A (p.Val234Glu)
n.883T>A
16g.2496849T>CCA394376955TBC1D24c.701T>C (p.Val234Ala)
n.883T>C
16g.2496849T>GCA394376957TBC1D24c.701T>G (p.Val234Gly)
n.883T>G
16g.2496850G>ACA318996TBC1D24c.702G>A (p.Val234=)
n.884G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496850G>CCA7844049TBC1D24c.702G>C (p.Val234=)
n.884G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496850G=CA2202260016TBC1D24c.702G= (p.Val234=)
n.884G=
16g.2496850G>TCA493366863TBC1D24c.702G>T (p.Val234=)
n.884G>T
16g.2496851G>ACA394376962TBC1D24c.703G>A (p.Glu235Lys)
n.885G>A
16g.2496851G>CCA394376963TBC1D24c.703G>C (p.Glu235Gln)
n.885G>C
16g.2496851G>TCA394376964TBC1D24c.703G>T (p.Glu235Ter)
n.885G>T
16g.2496852A>CCA394376966TBC1D24c.704A>C (p.Glu235Ala)
n.886A>C
16g.2496852A>GCA394376969TBC1D24c.704A>G (p.Glu235Gly)
n.886A>G
16g.2496852A>TCA394376970TBC1D24c.704A>T (p.Glu235Val)
n.886A>T
16g.2496853G>ACA493366865TBC1D24c.705G>A (p.Glu235=)
n.887G>A
16g.2496853G>CCA394376972TBC1D24c.705G>C (p.Glu235Asp)
n.887G>C
dbSNP gnomAD v2
16g.2496853G=CA2202260017TBC1D24c.705G= (p.Glu235=)
n.887G=
16g.2496853G>TCA394376974TBC1D24c.705G>T (p.Glu235Asp)
n.887G>T
16g.2496854G>ACA394376977TBC1D24c.706G>A (p.Gly236Ser)
n.888G>A
ClinVar dbSNP gnomAD v2 gnomAD v4
16g.2496854G>CCA394376981TBC1D24c.706G>C (p.Gly236Arg)
n.888G>C
16g.2496854G=CA2202260018TBC1D24c.706G= (p.Gly236=)
n.888G=
16g.2496854G>TCA394376979TBC1D24c.706G>T (p.Gly236Cys)
n.888G>T
16g.2496855G>ACA394376983TBC1D24c.707G>A (p.Gly236Asp)
n.889G>A
16g.2496855G>CCA394376985TBC1D24c.707G>C (p.Gly236Ala)
n.889G>C
16g.2496855G>TCA394376986TBC1D24c.707G>T (p.Gly236Val)
n.889G>T
16g.2496856C>ACA493366870TBC1D24c.708C>A (p.Gly236=)
n.890C>A
16g.2496856C>GCA493366871TBC1D24c.708C>G (p.Gly236=)
n.890C>G
16g.2496856C>TCA493366872TBC1D24c.708C>T (p.Gly236=)
n.890C>T
16g.2496857T>ACA394376988TBC1D24c.709T>A (p.Tyr237Asn)
n.891T>A
16g.2496857T>CCA7844050TBC1D24c.709T>C (p.Tyr237His)
n.891T>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496857T>GCA394376991TBC1D24c.709T>G (p.Tyr237Asp)
n.891T>G
16g.2496857T=CA2202260019TBC1D24c.709T= (p.Tyr237=)
n.891T=
16g.2496858A=CA2202260020TBC1D24c.710A= (p.Tyr237=)
n.892A=
16g.2496858A>CCA394376992TBC1D24c.710A>C (p.Tyr237Ser)
n.892A>C
16g.2496858A>GCA394376995TBC1D24c.710A>G (p.Tyr237Cys)
n.892A>G
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496858A>TCA394376996TBC1D24c.710A>T (p.Tyr237Phe)
n.892A>T
16g.2496859C>ACA394376997TBC1D24c.711C>A (p.Tyr237Ter)
n.893C>A
16g.2496859C=CA2202260021TBC1D24c.711C= (p.Tyr237=)
n.893C=
16g.2496859C>GCA394376998TBC1D24c.711C>G (p.Tyr237Ter)
n.893C>G
16g.2496859C>TCA493366881TBC1D24c.711C>T (p.Tyr237=)
n.893C>T
dbSNP
16g.2496860A=CA2202260022TBC1D24c.712A= (p.Lys238=)
n.894A=
16g.2496860A>CCA394377001TBC1D24c.712A>C (p.Lys238Gln)
n.894A>C
16g.2496860A>GCA394377002TBC1D24c.712A>G (p.Lys238Glu)
n.894A>G
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496860A>TCA394377000TBC1D24c.712A>T (p.Lys238Ter)
n.894A>T
16g.2496861A>CCA394377005TBC1D24c.713A>C (p.Lys238Thr)
n.895A>C
16g.2496861A>GCA394377008TBC1D24c.713A>G (p.Lys238Arg)
n.895A>G
gnomAD v4
16g.2496861A>TCA394377007TBC1D24c.713A>T (p.Lys238Met)
n.895A>T
16g.2496862G>ACA7844051TBC1D24c.714G>A (p.Lys238=)
n.896G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496862G>CCA394377013TBC1D24c.714G>C (p.Lys238Asn)
n.896G>C
16g.2496862G=CA2202260023TBC1D24c.714G= (p.Lys238=)
n.896G=
16g.2496862G>TCA394377011TBC1D24c.714G>T (p.Lys238Asn)
n.896G>T
16g.2496863delCA2499223459TBC1D24c.715del (p.Val239CysfsTer16)
n.897del
ClinVar dbSNP gnomAD v4
16g.2496863G>ACA394377016TBC1D24c.715G>A (p.Val239Met)
n.897G>A
16g.2496863G>CCA394377017TBC1D24c.715G>C (p.Val239Leu)
n.897G>C
16g.2496863G>TCA394377018TBC1D24c.715G>T (p.Val239Leu)
n.897G>T
gnomAD v4
16g.2496864T>ACA394377019TBC1D24c.716T>A (p.Val239Glu)
n.898T>A
16g.2496864T>CCA394377021TBC1D24c.716T>C (p.Val239Ala)
n.898T>C
gnomAD v4
16g.2496864T>GCA394377023TBC1D24c.716T>G (p.Val239Gly)
n.898T>G
16g.2496865G>ACA493366891TBC1D24c.717G>A (p.Val239=)
n.899G>A
ClinVar
16g.2496865G>CCA493366892TBC1D24c.717G>C (p.Val239=)
n.899G>C
16g.2496865G>TCA493366894TBC1D24c.717G>T (p.Val239=)
n.899G>T
16g.2496866C>ACA394377025TBC1D24c.718C>A (p.Leu240Met)
n.900C>A
16g.2496866C>GCA394377026TBC1D24c.718C>G (p.Leu240Val)
n.900C>G
16g.2496866C>TCA493366896TBC1D24c.718C>T (p.Leu240=)
n.900C>T
16g.2496867T>ACA394377029TBC1D24c.719T>A (p.Leu240Gln)
n.901T>A
16g.2496867T>CCA394377030TBC1D24c.719T>C (p.Leu240Pro)
n.901T>C
gnomAD v4
16g.2496867T>GCA394377031TBC1D24c.719T>G (p.Leu240Arg)
n.901T>G
ClinVar
16g.2496868G>ACA493366899TBC1D24c.720G>A (p.Leu240=)
n.902G>A
dbSNP gnomAD v2 gnomAD v4
16g.2496868G>CCA493366903TBC1D24c.720G>C (p.Leu240=)
n.902G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496868G=CA2202260024TBC1D24c.720G= (p.Leu240=)
n.902G=
16g.2496868G>TCA493366901TBC1D24c.720G>T (p.Leu240=)
n.902G>T
16g.2496869T>ACA394377036TBC1D24c.721T>A (p.Tyr241Asn)
n.903T>A
ClinVar
16g.2496869T>CCA394377033TBC1D24c.721T>C (p.Tyr241His)
n.903T>C
16g.2496869T>GCA394377034TBC1D24c.721T>G (p.Tyr241Asp)
n.903T>G
16g.2496870A=CA2202260025TBC1D24c.722A= (p.Tyr241=)
n.904A=
16g.2496870A>CCA394377039TBC1D24c.722A>C (p.Tyr241Ser)
n.904A>C
16g.2496870A>GCA394377041TBC1D24c.722A>G (p.Tyr241Cys)
n.904A>G
dbSNP gnomAD v4
16g.2496870A>TCA394377042TBC1D24c.722A>T (p.Tyr241Phe)
n.904A>T
16g.2496871C>ACA394377044TBC1D24c.723C>A (p.Tyr241Ter)
n.905C>A
16g.2496871C>GCA394377045TBC1D24c.723C>G (p.Tyr241Ter)
n.905C>G
16g.2496871C>TCA493366908TBC1D24c.723C>T (p.Tyr241=)
n.905C>T
gnomAD v4
16g.2496872C>ACA394377046TBC1D24c.724C>A (p.Arg242Ser)
n.906C>A
16g.2496872C=CA2202260026TBC1D24c.724C= (p.Arg242=)
n.906C=
16g.2496872C>GCA394377048TBC1D24c.724C>G (p.Arg242Gly)
n.906C>G
gnomAD v4
16g.2496872C>TCA319025TBC1D24c.724C>T (p.Arg242Cys)
n.906C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2496873G>ACA7844052TBC1D24c.725G>A (p.Arg242His)
n.907G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496873G>CCA394377052TBC1D24c.725G>C (p.Arg242Pro)
n.907G>C
16g.2496873G=CA2202260027TBC1D24c.725G= (p.Arg242=)
n.907G=
16g.2496873G>TCA394377054TBC1D24c.725G>T (p.Arg242Leu)
n.907G>T
gnomAD v4
16g.2496874C>ACA493366912TBC1D24c.726C>A (p.Arg242=)
n.908C>A
16g.2496874C=CA2202260028TBC1D24c.726C= (p.Arg242=)
n.908C=
16g.2496874C>GCA493366913TBC1D24c.726C>G (p.Arg242=)
n.908C>G
16g.2496874C>TCA7844053TBC1D24c.726C>T (p.Arg242=)
n.908C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496875G>ACA7844054TBC1D24c.727G>A (p.Val243Met)
n.909G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496875G>CCA394377058TBC1D24c.727G>C (p.Val243Leu)
n.909G>C
16g.2496875G=CA2202260029TBC1D24c.727G= (p.Val243=)
n.909G=
16g.2496875G>TCA394377060TBC1D24c.727G>T (p.Val243Leu)
n.909G>T
gnomAD v4
16g.2496876T>ACA394377062TBC1D24c.728T>A (p.Val243Glu)
n.910T>A
16g.2496876T>CCA394377063TBC1D24c.728T>C (p.Val243Ala)
n.910T>C
16g.2496876T>GCA394377065TBC1D24c.728T>G (p.Val243Gly)
n.910T>G
16g.2496877G>ACA493366923TBC1D24c.729G>A (p.Val243=)
n.911G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496877G>CCA493366922TBC1D24c.729G>C (p.Val243=)
n.911G>C
16g.2496877G=CA2202260030TBC1D24c.729G= (p.Val243=)
n.911G=
16g.2496877G>TCA493366921TBC1D24c.729G>T (p.Val243=)
n.911G>T
16g.2496878G>ACA394377068TBC1D24c.730G>A (p.Ala244Thr)
n.912G>A
16g.2496878G>CCA394377069TBC1D24c.730G>C (p.Ala244Pro)
n.912G>C
16g.2496878G>TCA394377070TBC1D24c.730G>T (p.Ala244Ser)
n.912G>T
16g.2496879C>ACA394377072TBC1D24c.731C>A (p.Ala244Glu)
n.913C>A
ClinVar dbSNP gnomAD v4
16g.2496879C=CA2202260031TBC1D24c.731C= (p.Ala244=)
n.913C=
16g.2496879C>GCA394377074TBC1D24c.731C>G (p.Ala244Gly)
n.913C>G
16g.2496879C>TCA7844055TBC1D24c.731C>T (p.Ala244Val)
n.913C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496880G>ACA7844056TBC1D24c.732G>A (p.Ala244=)
n.914G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496880G>CCA493366932TBC1D24c.732G>C (p.Ala244=)
n.914G>C
gnomAD v4 COSMIC
16g.2496880G=CA2202260032TBC1D24c.732G= (p.Ala244=)
n.914G=
16g.2496880G>TCA493366933TBC1D24c.732G>T (p.Ala244=)
n.914G>T
16g.2496881C>ACA394377077TBC1D24c.733C>A (p.Leu245Met)
n.915C>A
16g.2496881C>GCA394377076TBC1D24c.733C>G (p.Leu245Val)
n.915C>G
16g.2496881C>TCA493366935TBC1D24c.733C>T (p.Leu245=)
n.915C>T
16g.2496882T>ACA394377079TBC1D24c.734T>A (p.Leu245Gln)
n.916T>A
16g.2496882T>CCA7844057TBC1D24c.734T>C (p.Leu245Pro)
n.916T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496882T>GCA394377082TBC1D24c.734T>G (p.Leu245Arg)
n.916T>G
16g.2496882T=CA2202260033TBC1D24c.734T= (p.Leu245=)
n.916T=
16g.2496883G>ACA276809634TBC1D24c.735G>A (p.Leu245=)
n.917G>A
dbSNP
16g.2496883G>CCA493366937TBC1D24c.735G>C (p.Leu245=)
n.917G>C
16g.2496883G=CA2202260034TBC1D24c.735G= (p.Leu245=)
n.917G=
16g.2496883G>TCA493366939TBC1D24c.735G>T (p.Leu245=)
n.917G>T
16g.2496884G>ACA394377084TBC1D24c.736G>A (p.Ala246Thr)
n.918G>A
16g.2496884G>CCA394377085TBC1D24c.736G>C (p.Ala246Pro)
n.918G>C
16g.2496884G>TCA394377087TBC1D24c.736G>T (p.Ala246Ser)
n.918G>T
16g.2496885C>ACA394377088TBC1D24c.737C>A (p.Ala246Asp)
n.919C>A
16g.2496885C>GCA394377089TBC1D24c.737C>G (p.Ala246Gly)
n.919C>G
16g.2496885C>TCA394377090TBC1D24c.737C>T (p.Ala246Val)
n.919C>T
16g.2496886C>ACA493366945TBC1D24c.738C>A (p.Ala246=)
n.920C>A
16g.2496886C>GCA493366946TBC1D24c.738C>G (p.Ala246=)
n.920C>G
16g.2496886C>TCA493366947TBC1D24c.738C>T (p.Ala246=)
n.920C>T
16g.2496887A>CCA394377091TBC1D24c.739A>C (p.Ile247Leu)
n.921A>C
16g.2496887A>GCA394377093TBC1D24c.739A>G (p.Ile247Val)
n.921A>G
gnomAD v4
16g.2496887A>TCA394377094TBC1D24c.739A>T (p.Ile247Phe)
n.921A>T
16g.2496888T>ACA394377099TBC1D24c.740T>A (p.Ile247Asn)
n.922T>A
16g.2496888T>CCA394377101TBC1D24c.740T>C (p.Ile247Thr)
n.922T>C
gnomAD v4
16g.2496888T>GCA394377097TBC1D24c.740T>G (p.Ile247Ser)
n.922T>G
16g.2496889C>ACA493366952TBC1D24c.741C>A (p.Ile247=)
n.923C>A
16g.2496889C=CA2202260035TBC1D24c.741C= (p.Ile247=)
n.923C=
16g.2496889C>GCA394377103TBC1D24c.741C>G (p.Ile247Met)
n.923C>G
16g.2496889C>TCA493366954TBC1D24c.741C>T (p.Ile247=)
n.923C>T
dbSNP gnomAD v2 gnomAD v4
16g.2496890C>ACA394377105TBC1D24c.742C>A (p.Leu248Ile)
n.924C>A
gnomAD v4
16g.2496890C>GCA394377106TBC1D24c.742C>G (p.Leu248Val)
n.924C>G
16g.2496890C>TCA394377107TBC1D24c.742C>T (p.Leu248Phe)
n.924C>T
16g.2496891T>ACA394377111TBC1D24c.743T>A (p.Leu248His)
n.925T>A
16g.2496891T>CCA394377112TBC1D24c.743T>C (p.Leu248Pro)
n.925T>C
16g.2496891T>GCA394377114TBC1D24c.743T>G (p.Leu248Arg)
n.925T>G
COSMIC
16g.2496892C>ACA493367106TBC1D24c.744C>A (p.Leu248=)
n.926C>A
16g.2496892C>GCA493367107TBC1D24c.744C>G (p.Leu248=)
n.926C>G
16g.2496892C>TCA493367108TBC1D24c.744C>T (p.Leu248=)
n.926C>T
16g.2496893A=CA2202260036TBC1D24c.745A= (p.Lys249=)
n.927A=
16g.2496893A>CCA394377118TBC1D24c.745A>C (p.Lys249Gln)
n.927A>C
16g.2496893A>GCA394377121TBC1D24c.745A>G (p.Lys249Glu)
n.927A>G
dbSNP gnomAD v2 gnomAD v4
16g.2496893A>TCA394377120TBC1D24c.745A>T (p.Lys249Ter)
n.927A>T
16g.2496894A>CCA394377124TBC1D24c.746A>C (p.Lys249Thr)
n.928A>C
16g.2496894A>GCA394377126TBC1D24c.746A>G (p.Lys249Arg)
n.928A>G
16g.2496894A>TCA394377128TBC1D24c.746A>T (p.Lys249Met)
n.928A>T
ClinVar
16g.2496895G>ACA493367109TBC1D24c.747G>A (p.Lys249=)
n.929G>A
16g.2496895G>CCA394377130TBC1D24c.747G>C (p.Lys249Asn)
n.929G>C
16g.2496895G>TCA394377131TBC1D24c.747G>T (p.Lys249Asn)
n.929G>T
16g.2496896T>ACA394377133TBC1D24c.748T>A (p.Phe250Ile)
n.930T>A
16g.2496896T>CCA394377137TBC1D24c.748T>C (p.Phe250Leu)
n.930T>C
16g.2496896T>GCA394377135TBC1D24c.748T>G (p.Phe250Val)
n.930T>G
16g.2496897T>ACA394377139TBC1D24c.749T>A (p.Phe250Tyr)
n.931T>A
16g.2496897T>CCA394377141TBC1D24c.749T>C (p.Phe250Ser)
n.931T>C
16g.2496897T>GCA394377143TBC1D24c.749T>G (p.Phe250Cys)
n.931T>G
16g.2496898C>ACA394377144TBC1D24c.750C>A (p.Phe250Leu)
n.932C>A
gnomAD v4
16g.2496898C=CA2202260037TBC1D24c.750C= (p.Phe250=)
n.932C=
16g.2496898C>GCA7844058TBC1D24c.750C>G (p.Phe250Leu)
n.932C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496898C>TCA493367110TBC1D24c.750C>T (p.Phe250=)
n.932C>T
16g.2496898_2496899delinsCTCA2202260038TBC1D24c.750_751delinsCT (p.Phe250=)
n.932_933delinsCT
16g.2496899T>ACA394377146TBC1D24c.751T>A (p.Phe251Ile)
n.933T>A
16g.2496899T>CCA339788TBC1D24c.751T>C (p.Phe251Leu)
n.933T>C
ClinVar dbSNP
16g.2496899T>GCA394377149TBC1D24c.751T>G (p.Phe251Val)
n.933T>G
ClinVar dbSNP
16g.2496899T=CA2202260039TBC1D24c.751T= (p.Phe251=)
n.933T=
16g.2496900delCA7844059TBC1D24c.752del (p.Phe251SerfsTer4)
n.934del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496900T>ACA394377153TBC1D24c.752T>A (p.Phe251Tyr)
n.934T>A
16g.2496900T>CCA394377155TBC1D24c.752T>C (p.Phe251Ser)
n.934T>C
16g.2496900T>GCA394377156TBC1D24c.752T>G (p.Phe251Cys)
n.934T>G
16g.2496901C>ACA394377158TBC1D24c.753C>A (p.Phe251Leu)
n.935C>A
16g.2496901C=CA2202260040TBC1D24c.753C= (p.Phe251=)
n.935C=
16g.2496901C>GCA394377161TBC1D24c.753C>G (p.Phe251Leu)
n.935C>G
16g.2496901C>TCA7844060TBC1D24c.753C>T (p.Phe251=)
n.935C>T
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496902C>ACA394377164TBC1D24c.754C>A (p.His252Asn)
n.936C>A
16g.2496902C>GCA394377166TBC1D24c.754C>G (p.His252Asp)
n.936C>G
16g.2496902C>TCA394377167TBC1D24c.754C>T (p.His252Tyr)
n.936C>T
COSMIC
16g.2496903A=CA2202260041TBC1D24c.755A= (p.His252=)
n.937A=
16g.2496903A>CCA394377169TBC1D24c.755A>C (p.His252Pro)
n.937A>C
16g.2496903A>GCA7844061TBC1D24c.755A>G (p.His252Arg)
n.937A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496903A>TCA394377172TBC1D24c.755A>T (p.His252Leu)
n.937A>T
16g.2496904C>ACA394377177TBC1D24c.756C>A (p.His252Gln)
n.938C>A
16g.2496904C>GCA394377174TBC1D24c.756C>G (p.His252Gln)
n.938C>G
16g.2496904C>TCA493367111TBC1D24c.756C>T (p.His252=)
n.938C>T
16g.2496905A=CA2202260042TBC1D24c.757A= (p.Lys253=)
n.939A=
16g.2496905A>CCA394377180TBC1D24c.757A>C (p.Lys253Gln)
n.939A>C
16g.2496905A>GCA394377181TBC1D24c.757A>G (p.Lys253Glu)
n.939A>G
dbSNP gnomAD v4
16g.2496905A>TCA394377184TBC1D24c.757A>T (p.Lys253Ter)
n.939A>T
16g.2496906A=CA2202260043TBC1D24c.758A= (p.Lys253=)
n.940A=
16g.2496906A>CCA394377186TBC1D24c.758A>C (p.Lys253Thr)
n.940A>C
16g.2496906A>GCA394377188TBC1D24c.758A>G (p.Lys253Arg)
n.940A>G
dbSNP
16g.2496906A>TCA394377191TBC1D24c.758A>T (p.Lys253Met)
n.940A>T
16g.2496907G>ACA7844062TBC1D24c.759G>A (p.Lys253=)
n.941G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496907G>CCA394377196TBC1D24c.759G>C (p.Lys253Asn)
n.941G>C
ClinVar dbSNP
16g.2496907G=CA2202260044TBC1D24c.759G= (p.Lys253=)
n.941G=
16g.2496907G>TCA394377194TBC1D24c.759G>T (p.Lys253Asn)
n.941G>T
16g.2496908G>ACA394377198TBC1D24c.760G>A (p.Val254Met)
n.942G>A
COSMIC
16g.2496908G>CCA394377200TBC1D24c.760G>C (p.Val254Leu)
n.942G>C
16g.2496908G>TCA394377202TBC1D24c.760G>T (p.Val254Leu)
n.942G>T
COSMIC
16g.2496909T>ACA394377204TBC1D24c.761T>A (p.Val254Glu)
n.943T>A
16g.2496909T>CCA394377207TBC1D24c.761T>C (p.Val254Ala)
n.943T>C
16g.2496909T>GCA394377208TBC1D24c.761T>G (p.Val254Gly)
n.943T>G
16g.2496910G>ACA493367112TBC1D24c.762G>A (p.Val254=)
n.944G>A
16g.2496910G>CCA493367113TBC1D24c.762G>C (p.Val254=)
n.944G>C
16g.2496910G>TCA493367114TBC1D24c.762G>T (p.Val254=)
n.944G>T
16g.2496911A=CA2202260045TBC1D24c.763A= (p.Arg255=)
n.945A=
16g.2496911A>CCA493367115TBC1D24c.763A>C (p.Arg255=)
n.945A>C
16g.2496911A>GCA394377210TBC1D24c.763A>G (p.Arg255Gly)
n.945A>G
dbSNP
16g.2496911A>TCA394377212TBC1D24c.763A>T (p.Arg255Trp)
n.945A>T
16g.2496912G>ACA394377214TBC1D24c.764G>A (p.Arg255Lys)
n.946G>A
16g.2496912G>CCA394377216TBC1D24c.764G>C (p.Arg255Thr)
n.946G>C
16g.2496912G>TCA394377218TBC1D24c.764G>T (p.Arg255Met)
n.946G>T
16g.2496913G>ACA493367116TBC1D24c.765G>A (p.Arg255=)
n.947G>A
16g.2496913G>CCA394377219TBC1D24c.765G>C (p.Arg255Ser)
n.947G>C
16g.2496913G>TCA394377221TBC1D24c.765G>T (p.Arg255Ser)
n.947G>T
16g.2496914G>ACA394377224TBC1D24c.766G>A (p.Ala256Thr)
n.948G>A
16g.2496914G>CCA394377228TBC1D24c.766G>C (p.Ala256Pro)
n.948G>C
16g.2496914G>TCA394377226TBC1D24c.766G>T (p.Ala256Ser)
n.948G>T
COSMIC
16g.2496915C>ACA394377231TBC1D24c.767C>A (p.Ala256Asp)
n.949C>A
16g.2496915C>GCA394377235TBC1D24c.767C>G (p.Ala256Gly)
n.949C>G
16g.2496915C>TCA394377233TBC1D24c.767C>T (p.Ala256Val)
n.949C>T
16g.2496916C>ACA493367117TBC1D24c.768C>A (p.Ala256=)
n.950C>A
16g.2496916C=CA2202260046TBC1D24c.768C= (p.Ala256=)
n.950C=
16g.2496916C>GCA493367118TBC1D24c.768C>G (p.Ala256=)
n.950C>G
dbSNP
16g.2496916C>TCA7844063TBC1D24c.768C>T (p.Ala256=)
n.950C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496917G>ACA394377239TBC1D24c.769G>A (p.Gly257Arg)
n.951G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496917G>CCA394377238TBC1D24c.769G>C (p.Gly257Arg)
n.951G>C
16g.2496917G=CA2202260047TBC1D24c.769G= (p.Gly257=)
n.951G=
16g.2496917G>TCA394377241TBC1D24c.769G>T (p.Gly257Trp)
n.951G>T
ClinVar dbSNP
16g.2496918G>ACA7844064TBC1D24c.770G>A (p.Gly257Glu)
n.952G>A
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496918G>CCA394377245TBC1D24c.770G>C (p.Gly257Ala)
n.952G>C
16g.2496918G=CA2202260048TBC1D24c.770G= (p.Gly257=)
n.952G=
16g.2496918G>TCA394377246TBC1D24c.770G>T (p.Gly257Val)
n.952G>T
16g.2496919G>ACA493367119TBC1D24c.771G>A (p.Gly257=)
n.953G>A
gnomAD v4
16g.2496919G>CCA7844065TBC1D24c.771G>C (p.Gly257=)
n.953G>C
dbSNP ExAC gnomAD v2 gnomAD v4
16g.2496919G=CA2202260049TBC1D24c.771G= (p.Gly257=)
n.953G=
16g.2496919G>TCA493367120TBC1D24c.771G>T (p.Gly257=)
n.953G>T
16g.2496920C>ACA394377249TBC1D24c.772C>A (p.Gln258Lys)
n.954C>A
gnomAD v4
16g.2496920C>GCA394377251TBC1D24c.772C>G (p.Gln258Glu)
n.954C>G
16g.2496920C>TCA394377252TBC1D24c.772C>T (p.Gln258Ter)
n.954C>T
16g.2496921A>CCA394377254TBC1D24c.773A>C (p.Gln258Pro)
n.955A>C
16g.2496921A>GCA394377256TBC1D24c.773A>G (p.Gln258Arg)
n.955A>G
16g.2496921A>TCA394377257TBC1D24c.773A>T (p.Gln258Leu)
n.955A>T
16g.2496922G>ACA493367121TBC1D24c.774G>A (p.Gln258=)
n.956G>A
16g.2496922G>CCA394377259TBC1D24c.774G>C (p.Gln258His)
n.956G>C
16g.2496922G>TCA394377261TBC1D24c.774G>T (p.Gln258His)
n.956G>T
16g.2496923C>ACA394377269TBC1D24c.775C>A (p.Pro259Thr)
n.957C>A
16g.2496923C>GCA394377266TBC1D24c.775C>G (p.Pro259Ala)
n.957C>G
16g.2496923C>TCA394377264TBC1D24c.775C>T (p.Pro259Ser)
n.957C>T
16g.2496924C>ACA394377273TBC1D24c.776C>A (p.Pro259Gln)
n.958C>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.2496924C=CA2202260050TBC1D24c.776C= (p.Pro259=)
n.958C=
16g.2496924C>GCA394377275TBC1D24c.776C>G (p.Pro259Arg)
n.958C>G
16g.2496924C>TCA7844066TBC1D24c.776C>T (p.Pro259Leu)
n.958C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496925G>ACA7844067TBC1D24c.777G>A (p.Pro259=)
n.959G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496925G>CCA493367122TBC1D24c.777G>C (p.Pro259=)
n.959G>C
16g.2496925G=CA2202260051TBC1D24c.777G= (p.Pro259=)
n.959G=
16g.2496925G>TCA7844068TBC1D24c.777G>T (p.Pro259=)
n.959G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.2496926C>ACA394377284TBC1D24c.778C>A (p.Leu260Met)
n.960C>A
16g.2496926C>GCA394377286TBC1D24c.778C>G (p.Leu260Val)
n.960C>G
16g.2496926C>TCA493367124TBC1D24c.778C>T (p.Leu260=)
n.960C>T

Number of alleles fetched