Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112767201_112767232dupCA2580072289APCc.233_264dup (p.Ser89IlefsTer8)
n.289_320dup
c.*239_*270dup (n.*239_*270dup)
c.263_294dup (p.Ser99IlefsTer8)
c.158_189dup (p.Ser64IlefsTer8)
c.56_87dup (p.Ser30IlefsTer8)
c.-803_-772dup (n.-803_-772dup)
ClinVar
5g.112767227C>ACA16021910APCc.259C>A (p.Leu87Met)
n.315C>A
c.*265C>A (n.*265C>A)
c.289C>A (p.Leu97Met)
c.184C>A (p.Leu62Met)
c.82C>A (p.Leu28Met)
c.-777C>A (n.-777C>A)
5g.112767227C=CA1573496656APCc.259C= (p.Leu87=)
n.315C=
c.*265C= (n.*265C=)
c.289C= (p.Leu97=)
c.184C= (p.Leu62=)
c.82C= (p.Leu28=)
c.-777C= (n.-777C=)
5g.112767227C>GCA16021911APCc.259C>G (p.Leu87Val)
n.315C>G
c.*265C>G (n.*265C>G)
c.289C>G (p.Leu97Val)
c.184C>G (p.Leu62Val)
c.82C>G (p.Leu28Val)
c.-777C>G (n.-777C>G)
dbSNP
5g.112767227C>TCA007647APCc.259C>T (p.Leu87=)
n.315C>T
c.*265C>T (n.*265C>T)
c.289C>T (p.Leu97=)
c.184C>T (p.Leu62=)
c.82C>T (p.Leu28=)
c.-777C>T (n.-777C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112767228T>ACA16021912APCc.260T>A (p.Leu87Gln)
n.316T>A
c.*266T>A (n.*266T>A)
c.290T>A (p.Leu97Gln)
c.185T>A (p.Leu62Gln)
c.83T>A (p.Leu28Gln)
c.-776T>A (n.-776T>A)
5g.112767228T>CCA16021913APCc.260T>C (p.Leu87Pro)
n.316T>C
c.*266T>C (n.*266T>C)
c.290T>C (p.Leu97Pro)
c.185T>C (p.Leu62Pro)
c.83T>C (p.Leu28Pro)
c.-776T>C (n.-776T>C)
ClinVar dbSNP
5g.112767228T>GCA032801APCc.260T>G (p.Leu87Arg)
n.316T>G
c.*266T>G (n.*266T>G)
c.290T>G (p.Leu97Arg)
c.185T>G (p.Leu62Arg)
c.83T>G (p.Leu28Arg)
c.-776T>G (n.-776T>G)
ClinVar dbSNP ExAC gnomAD v2
5g.112767228T=CA1573496670APCc.260T= (p.Leu87=)
n.316T=
c.*266T= (n.*266T=)
c.290T= (p.Leu97=)
c.185T= (p.Leu62=)
c.83T= (p.Leu28=)
c.-776T= (n.-776T=)
5g.112767229G>ACA445753152APCc.261G>A (p.Leu87=)
n.317G>A
c.*267G>A (n.*267G>A)
c.291G>A (p.Leu97=)
c.186G>A (p.Leu62=)
c.84G>A (p.Leu28=)
c.-775G>A (n.-775G>A)
dbSNP
5g.112767229G>CCA445753156APCc.261G>C (p.Leu87=)
n.317G>C
c.*267G>C (n.*267G>C)
c.291G>C (p.Leu97=)
c.186G>C (p.Leu62=)
c.84G>C (p.Leu28=)
c.-775G>C (n.-775G>C)
dbSNP
5g.112767229G>TCA445753155APCc.261G>T (p.Leu87=)
n.317G>T
c.*267G>T (n.*267G>T)
c.291G>T (p.Leu97=)
c.186G>T (p.Leu62=)
c.84G>T (p.Leu28=)
c.-775G>T (n.-775G>T)
dbSNP
5g.112767230C>ACA445753158APCc.262C>A (p.Arg88=)
n.318C>A
c.*268C>A (n.*268C>A)
c.292C>A (p.Arg98=)
c.187C>A (p.Arg63=)
c.85C>A (p.Arg29=)
c.-774C>A (n.-774C>A)
dbSNP
5g.112767230C=CA1573496685APCc.262C= (p.Arg88=)
n.318C=
c.*268C= (n.*268C=)
c.292C= (p.Arg98=)
c.187C= (p.Arg63=)
c.85C= (p.Arg29=)
c.-774C= (n.-774C=)
5g.112767230C>GCA16021914APCc.262C>G (p.Arg88Gly)
n.318C>G
c.*268C>G (n.*268C>G)
c.292C>G (p.Arg98Gly)
c.187C>G (p.Arg63Gly)
c.85C>G (p.Arg29Gly)
c.-774C>G (n.-774C>G)
dbSNP
5g.112767230C>TCA032840APCc.262C>T (p.Arg88Trp)
n.318C>T
c.*268C>T (n.*268C>T)
c.292C>T (p.Arg98Trp)
c.187C>T (p.Arg63Trp)
c.85C>T (p.Arg29Trp)
c.-774C>T (n.-774C>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
5g.112767231G>ACA007680APCc.263G>A (p.Arg88Gln)
n.319G>A
c.*269G>A (n.*269G>A)
c.293G>A (p.Arg98Gln)
c.188G>A (p.Arg63Gln)
c.86G>A (p.Arg29Gln)
c.-773G>A (n.-773G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112767231G>CCA16021915APCc.263G>C (p.Arg88Pro)
n.319G>C
c.*269G>C (n.*269G>C)
c.293G>C (p.Arg98Pro)
c.188G>C (p.Arg63Pro)
c.86G>C (p.Arg29Pro)
c.-773G>C (n.-773G>C)
dbSNP
5g.112767231G=CA1573496696APCc.263G= (p.Arg88=)
n.319G=
c.*269G= (n.*269G=)
c.293G= (p.Arg98=)
c.188G= (p.Arg63=)
c.86G= (p.Arg29=)
c.-773G= (n.-773G=)
5g.112767231G>TCA16021916APCc.263G>T (p.Arg88Leu)
n.319G>T
c.*269G>T (n.*269G>T)
c.293G>T (p.Arg98Leu)
c.188G>T (p.Arg63Leu)
c.86G>T (p.Arg29Leu)
c.-773G>T (n.-773G>T)
ClinVar dbSNP gnomAD v4
5g.112767232G>ACA445753164APCc.264G>A (p.Arg88=)
n.320G>A
c.*270G>A (n.*270G>A)
c.294G>A (p.Arg98=)
c.189G>A (p.Arg63=)
c.87G>A (p.Arg29=)
c.-772G>A (n.-772G>A)
ClinVar dbSNP
5g.112767232G>CCA445753166APCc.264G>C (p.Arg88=)
n.320G>C
c.*270G>C (n.*270G>C)
c.294G>C (p.Arg98=)
c.189G>C (p.Arg63=)
c.87G>C (p.Arg29=)
c.-772G>C (n.-772G>C)
ClinVar dbSNP
5g.112767232G=CA1573496701APCc.264G= (p.Arg88=)
n.320G=
c.*270G= (n.*270G=)
c.294G= (p.Arg98=)
c.189G= (p.Arg63=)
c.87G= (p.Arg29=)
c.-772G= (n.-772G=)
5g.112767232G>TCA445753168APCc.264G>T (p.Arg88=)
n.320G>T
c.*270G>T (n.*270G>T)
c.294G>T (p.Arg98=)
c.189G>T (p.Arg63=)
c.87G>T (p.Arg29=)
c.-772G>T (n.-772G>T)
ClinVar dbSNP
5g.112767233T>ACA16021917APCc.265T>A (p.Ser89Thr)
n.321T>A
c.*271T>A (n.*271T>A)
c.295T>A (p.Ser99Thr)
c.190T>A (p.Ser64Thr)
c.88T>A (p.Ser30Thr)
c.-771T>A (n.-771T>A)
dbSNP
5g.112767233T>CCA16021918APCc.265T>C (p.Ser89Pro)
n.321T>C
c.*271T>C (n.*271T>C)
c.295T>C (p.Ser99Pro)
c.190T>C (p.Ser64Pro)
c.88T>C (p.Ser30Pro)
c.-771T>C (n.-771T>C)
5g.112767233T>GCA16021919APCc.265T>G (p.Ser89Ala)
n.321T>G
c.*271T>G (n.*271T>G)
c.295T>G (p.Ser99Ala)
c.190T>G (p.Ser64Ala)
c.88T>G (p.Ser30Ala)
c.-771T>G (n.-771T>G)
5g.112767234C>ACA16021920APCc.266C>A (p.Ser89Ter)
n.322C>A
c.*272C>A (n.*272C>A)
c.296C>A (p.Ser99Ter)
c.191C>A (p.Ser64Ter)
c.89C>A (p.Ser30Ter)
c.-770C>A (n.-770C>A)
ClinVar dbSNP
5g.112767234C=CA1573496705APCc.266C= (p.Ser89=)
n.322C=
c.*272C= (n.*272C=)
c.296C= (p.Ser99=)
c.191C= (p.Ser64=)
c.89C= (p.Ser30=)
c.-770C= (n.-770C=)
5g.112767234C>GCA10578287APCc.266C>G (p.Ser89Ter)
n.322C>G
c.*272C>G (n.*272C>G)
c.296C>G (p.Ser99Ter)
c.191C>G (p.Ser64Ter)
c.89C>G (p.Ser30Ter)
c.-770C>G (n.-770C>G)
ClinVar dbSNP
5g.112767234C>TCA16021921APCc.266C>T (p.Ser89Leu)
n.322C>T
c.*272C>T (n.*272C>T)
c.296C>T (p.Ser99Leu)
c.191C>T (p.Ser64Leu)
c.89C>T (p.Ser30Leu)
c.-770C>T (n.-770C>T)
ClinVar dbSNP COSMIC
5g.112767234_112767235delinsCACA1573496713APCc.266_267delinsCA (p.Ser89=)
n.322_323delinsCA
c.*272_*273delinsCA (n.*272_*273delinsCA)
c.296_297delinsCA (p.Ser99=)
c.191_192delinsCA (p.Ser64=)
c.89_90delinsCA (p.Ser30=)
c.-770_-769delinsCA (n.-770_-769delinsCA)
5g.112767235A>CCA445753178APCc.267A>C (p.Ser89=)
n.323A>C
c.*273A>C (n.*273A>C)
c.297A>C (p.Ser99=)
c.192A>C (p.Ser64=)
c.90A>C (p.Ser30=)
c.-769A>C (n.-769A>C)
5g.112767235A>GCA445753180APCc.267A>G (p.Ser89=)
n.323A>G
c.*273A>G (n.*273A>G)
c.297A>G (p.Ser99=)
c.192A>G (p.Ser64=)
c.90A>G (p.Ser30=)
c.-769A>G (n.-769A>G)
5g.112767235A>TCA445753182APCc.267A>T (p.Ser89=)
n.323A>T
c.*273A>T (n.*273A>T)
c.297A>T (p.Ser99=)
c.192A>T (p.Ser64=)
c.90A>T (p.Ser30=)
c.-769A>T (n.-769A>T)
ClinVar
5g.112767239delCA658821657APCc.271del (p.Met91CysfsTer?)
n.327del
c.*277del (n.*277del)
c.301del (p.Met101CysfsTer?)
c.196del (p.Met66CysfsTer?)
c.94del (p.Met32CysfsTer?)
c.-765del (n.-765del)
ClinVar dbSNP
5g.112767236A=CA1573496729APCc.268A= (p.Lys90=)
n.324A=
c.*274A= (n.*274A=)
c.298A= (p.Lys100=)
c.193A= (p.Lys65=)
c.91A= (p.Lys31=)
c.-768A= (n.-768A=)
5g.112767236A>CCA16021922APCc.268A>C (p.Lys90Gln)
n.324A>C
c.*274A>C (n.*274A>C)
c.298A>C (p.Lys100Gln)
c.193A>C (p.Lys65Gln)
c.91A>C (p.Lys31Gln)
c.-768A>C (n.-768A>C)
ClinVar
5g.112767236A>GCA033035APCc.268A>G (p.Lys90Glu)
n.324A>G
c.*274A>G (n.*274A>G)
c.298A>G (p.Lys100Glu)
c.193A>G (p.Lys65Glu)
c.91A>G (p.Lys31Glu)
c.-768A>G (n.-768A>G)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.112767236A>TCA16021923APCc.268A>T (p.Lys90Ter)
n.324A>T
c.*274A>T (n.*274A>T)
c.298A>T (p.Lys100Ter)
c.193A>T (p.Lys65Ter)
c.91A>T (p.Lys31Ter)
c.-768A>T (n.-768A>T)
ClinVar dbSNP gnomAD v4
5g.112767237A>CCA16021924APCc.269A>C (p.Lys90Thr)
n.325A>C
c.*275A>C (n.*275A>C)
c.299A>C (p.Lys100Thr)
c.194A>C (p.Lys65Thr)
c.92A>C (p.Lys31Thr)
c.-767A>C (n.-767A>C)
5g.112767237A>GCA16021925APCc.269A>G (p.Lys90Arg)
n.325A>G
c.*275A>G (n.*275A>G)
c.299A>G (p.Lys100Arg)
c.194A>G (p.Lys65Arg)
c.92A>G (p.Lys31Arg)
c.-767A>G (n.-767A>G)
5g.112767237A>TCA16021926APCc.269A>T (p.Lys90Ile)
n.325A>T
c.*275A>T (n.*275A>T)
c.299A>T (p.Lys100Ile)
c.194A>T (p.Lys65Ile)
c.92A>T (p.Lys31Ile)
c.-767A>T (n.-767A>T)
5g.112767238A>CCA16021927APCc.270A>C (p.Lys90Asn)
n.326A>C
c.*276A>C (n.*276A>C)
c.300A>C (p.Lys100Asn)
c.195A>C (p.Lys65Asn)
c.93A>C (p.Lys31Asn)
c.-766A>C (n.-766A>C)
5g.112767238A>GCA445753192APCc.270A>G (p.Lys90=)
n.326A>G
c.*276A>G (n.*276A>G)
c.300A>G (p.Lys100=)
c.195A>G (p.Lys65=)
c.93A>G (p.Lys31=)
c.-766A>G (n.-766A>G)
COSMIC
5g.112767238A>TCA16021928APCc.270A>T (p.Lys90Asn)
n.326A>T
c.*276A>T (n.*276A>T)
c.300A>T (p.Lys100Asn)
c.195A>T (p.Lys65Asn)
c.93A>T (p.Lys31Asn)
c.-766A>T (n.-766A>T)
5g.112767239A=CA1573496736APCc.271A= (p.Met91=)
n.327A=
c.*277A= (n.*277A=)
c.301A= (p.Met101=)
c.196A= (p.Met66=)
c.94A= (p.Met32=)
c.-765A= (n.-765A=)
5g.112767239A>CCA16021929APCc.271A>C (p.Met91Leu)
n.327A>C
c.*277A>C (n.*277A>C)
c.301A>C (p.Met101Leu)
c.196A>C (p.Met66Leu)
c.94A>C (p.Met32Leu)
c.-765A>C (n.-765A>C)
5g.112767239A>GCA16021930APCc.271A>G (p.Met91Val)
n.327A>G
c.*277A>G (n.*277A>G)
c.301A>G (p.Met101Val)
c.196A>G (p.Met66Val)
c.94A>G (p.Met32Val)
c.-765A>G (n.-765A>G)
5g.112767239A>TCA16021931APCc.271A>T (p.Met91Leu)
n.327A>T
c.*277A>T (n.*277A>T)
c.301A>T (p.Met101Leu)
c.196A>T (p.Met66Leu)
c.94A>T (p.Met32Leu)
c.-765A>T (n.-765A>T)
ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched