Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.80214638T>ACA401362547CARD14,SGSHn.2845-1228T>A
c.483A>T (p.Lys161Asn)
c.501A>T (p.Lys167Asn)
c.518A>T (p.Asn173Ile)
n.376-310A>T
n.503A>T
n.374-310A>T
c.85A>T
c.377A>T (p.Asn126Ile)
c.342A>T
n.492A>T
c.222A>T (p.Lys74Asn)
c.250-310A>T (n.250-310A>T)
n.464A>T
n.397A>T
17g.80214638T>CCA401362549CARD14,SGSHn.2845-1228T>C
c.483A>G (p.Lys161=)
c.501A>G (p.Lys167=)
c.518A>G (p.Asn173Ser)
n.376-310A>G
n.503A>G
n.374-310A>G
c.85A>G
c.377A>G (p.Asn126Ser)
c.342A>G
n.492A>G
c.222A>G (p.Lys74=)
c.250-310A>G (n.250-310A>G)
n.464A>G
n.397A>G
ClinVar dbSNP
17g.80214638T>GCA401362548CARD14,SGSHn.2845-1228T>G
c.483A>C (p.Lys161Asn)
c.501A>C (p.Lys167Asn)
c.518A>C (p.Asn173Thr)
n.376-310A>C
n.503A>C
n.374-310A>C
c.85A>C
c.377A>C (p.Asn126Thr)
c.342A>C
n.492A>C
c.222A>C (p.Lys74Asn)
c.250-310A>C (n.250-310A>C)
n.464A>C
n.397A>C
17g.80214639T>ACA401362550CARD14,SGSHn.2845-1227T>A
c.482A>T (p.Lys161Ile)
c.500A>T (p.Lys167Ile)
c.517A>T (p.Asn173Tyr)
n.376-311A>T
n.502A>T
n.374-311A>T
c.84A>T
c.376A>T (p.Asn126Tyr)
c.341A>T
n.491A>T
c.221A>T (p.Lys74Ile)
c.250-311A>T (n.250-311A>T)
n.463A>T
n.396A>T
17g.80214639T>CCA401362551CARD14,SGSHn.2845-1227T>C
c.482A>G (p.Lys161Arg)
c.500A>G (p.Lys167Arg)
c.517A>G (p.Asn173Asp)
n.376-311A>G
n.502A>G
n.374-311A>G
c.84A>G
c.376A>G (p.Asn126Asp)
c.341A>G
n.491A>G
c.221A>G (p.Lys74Arg)
c.250-311A>G (n.250-311A>G)
n.463A>G
n.396A>G
17g.80214639T>GCA401362552CARD14,SGSHn.2845-1227T>G
c.482A>C (p.Lys161Thr)
c.500A>C (p.Lys167Thr)
c.517A>C (p.Asn173His)
n.376-311A>C
n.502A>C
n.374-311A>C
c.84A>C
c.376A>C (p.Asn126His)
c.341A>C
n.491A>C
c.221A>C (p.Lys74Thr)
c.250-311A>C (n.250-311A>C)
n.463A>C
n.396A>C
17g.80214640T>ACA401362555CARD14,SGSHn.2845-1226T>A
c.481A>T (p.Lys161Ter)
c.499A>T (p.Lys167Ter)
c.516A>T (p.Gly172=)
n.376-312A>T
n.501A>T
n.374-312A>T
c.83A>T
c.375A>T (p.Gly125=)
c.340A>T
n.490A>T
c.220A>T (p.Lys74Ter)
c.250-312A>T (n.250-312A>T)
n.462A>T
n.395A>T
ClinVar
17g.80214640T>CCA401362556CARD14,SGSHn.2845-1226T>C
c.481A>G (p.Lys161Glu)
c.499A>G (p.Lys167Glu)
c.516A>G (p.Gly172=)
n.376-312A>G
n.501A>G
n.374-312A>G
c.83A>G
c.375A>G (p.Gly125=)
c.340A>G
n.490A>G
c.220A>G (p.Lys74Glu)
c.250-312A>G (n.250-312A>G)
n.462A>G
n.395A>G
17g.80214640T>GCA401362560CARD14,SGSHn.2845-1226T>G
c.481A>C (p.Lys161Gln)
c.499A>C (p.Lys167Gln)
c.516A>C (p.Gly172=)
n.376-312A>C
n.501A>C
n.374-312A>C
c.83A>C
c.375A>C (p.Gly125=)
c.340A>C
n.490A>C
c.220A>C (p.Lys74Gln)
c.250-312A>C (n.250-312A>C)
n.462A>C
n.395A>C
17g.80214640T=CA2277864327CARD14,SGSHn.2845-1226T=
c.481A= (p.Lys161=)
c.499A= (p.Lys167=)
c.516A= (p.Gly172=)
n.376-312A=
n.501A=
n.374-312A=
c.83A=
c.375A= (p.Gly125=)
c.340A=
n.490A=
c.220A= (p.Lys74=)
c.250-312A= (n.250-312A=)
n.462A=
n.395A=
17g.80214640_80214641insACA294897721CARD14,SGSHn.2845-1226_2845-1225insA
c.480_481insT (p.Lys161Ter)
c.498_499insT (p.Lys167Ter)
c.515_516insT (p.Asn173LysfsTer?)
n.376-313_376-312insT
n.500_501insT
n.374-313_374-312insT
c.82_83insT
c.374_375insT (p.Asn126LysfsTer?)
c.339_340insT
n.489_490insT
c.219_220insT (p.Lys74Ter)
c.250-313_250-312insT (n.250-313_250-312insT)
n.461_462insT
n.394_395insT
dbSNP
17g.80214641C>ACA401362567CARD14,SGSHn.2845-1225C>A
c.480G>T (p.Arg160=)
c.498G>T (p.Arg166=)
c.515G>T (p.Gly172Val)
n.376-313G>T
n.500G>T
n.374-313G>T
c.82G>T
c.374G>T (p.Gly125Val)
c.339G>T
n.489G>T
c.219G>T (p.Arg73=)
c.250-313G>T (n.250-313G>T)
n.461G>T
n.394G>T
ClinVar dbSNP
17g.80214641C>GCA401362570CARD14,SGSHn.2845-1225C>G
c.480G>C (p.Arg160=)
c.498G>C (p.Arg166=)
c.515G>C (p.Gly172Ala)
n.376-313G>C
n.500G>C
n.374-313G>C
c.82G>C
c.374G>C (p.Gly125Ala)
c.339G>C
n.489G>C
c.219G>C (p.Arg73=)
c.250-313G>C (n.250-313G>C)
n.461G>C
n.394G>C
17g.80214641C>TCA401362573CARD14,SGSHn.2845-1225C>T
c.480G>A (p.Arg160=)
c.498G>A (p.Arg166=)
c.515G>A (p.Gly172Glu)
n.376-313G>A
n.500G>A
n.374-313G>A
c.82G>A
c.374G>A (p.Gly125Glu)
c.339G>A
n.489G>A
c.219G>A (p.Arg73=)
c.250-313G>A (n.250-313G>A)
n.461G>A
n.394G>A
17g.80214642C>ACA401362583CARD14,SGSHn.2845-1224C>A
c.479G>T (p.Arg160Leu)
c.497G>T (p.Arg166Leu)
c.514G>T (p.Gly172Ter)
n.376-314G>T
n.499G>T
n.374-314G>T
c.81G>T
c.373G>T (p.Gly125Ter)
c.338G>T
n.488G>T
c.218G>T (p.Arg73Leu)
c.250-314G>T (n.250-314G>T)
n.460G>T
n.393G>T
ClinVar gnomAD v4
17g.80214642C=CA2277864328CARD14,SGSHn.2845-1224C=
c.479G= (p.Arg160=)
c.497G= (p.Arg166=)
c.514G= (p.Gly172=)
n.376-314G=
n.499G=
n.374-314G=
c.81G=
c.373G= (p.Gly125=)
c.338G=
n.488G=
c.218G= (p.Arg73=)
c.250-314G= (n.250-314G=)
n.460G=
n.393G=
17g.80214642C>GCA401362579CARD14,SGSHn.2845-1224C>G
c.479G>C (p.Arg160Pro)
c.497G>C (p.Arg166Pro)
c.514G>C (p.Gly172Arg)
n.376-314G>C
n.499G>C
n.374-314G>C
c.81G>C
c.373G>C (p.Gly125Arg)
c.338G>C
n.488G>C
c.218G>C (p.Arg73Pro)
c.250-314G>C (n.250-314G>C)
n.460G>C
n.393G>C
17g.80214642C>TCA8818003CARD14,SGSHn.2845-1224C>T
c.479G>A (p.Arg160Gln)
c.497G>A (p.Arg166Gln)
c.514G>A (p.Gly172Arg)
n.376-314G>A
n.499G>A
n.374-314G>A
c.81G>A
c.373G>A (p.Gly125Arg)
c.338G>A
n.488G>A
c.218G>A (p.Arg73Gln)
c.250-314G>A (n.250-314G>A)
n.460G>A
n.393G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214643G>ACA8818004CARD14,SGSHn.2845-1223G>A
c.478C>T (p.Arg160Trp)
c.496C>T (p.Arg166Trp)
c.513C>T (p.Ser171=)
n.376-315C>T
n.498C>T
n.374-315C>T
c.80C>T
c.372C>T (p.Ser124=)
c.337C>T
n.487C>T
c.217C>T (p.Arg73Trp)
c.250-315C>T (n.250-315C>T)
n.459C>T
n.392C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214643G>CCA401362587CARD14,SGSHn.2845-1223G>C
c.478C>G (p.Arg160Gly)
c.496C>G (p.Arg166Gly)
c.513C>G (p.Ser171=)
n.376-315C>G
n.498C>G
n.374-315C>G
c.80C>G
c.372C>G (p.Ser124=)
c.337C>G
n.487C>G
c.217C>G (p.Arg73Gly)
c.250-315C>G (n.250-315C>G)
n.459C>G
n.392C>G
17g.80214643G=CA2277864330CARD14,SGSHn.2845-1223G=
c.478C= (p.Arg160=)
c.496C= (p.Arg166=)
c.513C= (p.Ser171=)
n.376-315C=
n.498C=
n.374-315C=
c.80C=
c.372C= (p.Ser124=)
c.337C=
n.487C=
c.217C= (p.Arg73=)
c.250-315C= (n.250-315C=)
n.459C=
n.392C=
17g.80214643G>TCA502202942CARD14,SGSHn.2845-1223G>T
c.478C>A (p.Arg160=)
c.496C>A (p.Arg166=)
c.513C>A (p.Ser171=)
n.376-315C>A
n.498C>A
n.374-315C>A
c.80C>A
c.372C>A (p.Ser124=)
c.337C>A
n.487C>A
c.217C>A (p.Arg73=)
c.250-315C>A (n.250-315C>A)
n.459C>A
n.392C>A
17g.80214644dupCA2277864329CARD14,SGSHn.2845-1222dup
c.478dup (p.Arg160ProfsTer9)
c.496dup (p.Arg166ProfsTer9)
c.513dup (p.Gly172ArgfsTer?)
n.376-315dup
n.498dup
n.374-315dup
c.80dup
c.372dup (p.Gly125ArgfsTer?)
c.337dup
n.487dup
c.217dup (p.Arg73ProfsTer9)
c.250-315dup (n.250-315dup)
n.459dup
n.392dup
dbSNP
17g.80214644G>ACA401362590CARD14,SGSHn.2845-1222G>A
c.477C>T (p.Val159=)
c.495C>T (p.Val165=)
c.512C>T (p.Ser171Phe)
n.376-316C>T
n.497C>T
n.374-316C>T
c.79C>T
c.371C>T (p.Ser124Phe)
c.336C>T
n.486C>T
c.216C>T (p.Val72=)
c.250-316C>T (n.250-316C>T)
n.458C>T
n.391C>T
17g.80214644G>CCA401362591CARD14,SGSHn.2845-1222G>C
c.477C>G (p.Val159=)
c.495C>G (p.Val165=)
c.512C>G (p.Ser171Cys)
n.376-316C>G
n.497C>G
n.374-316C>G
c.79C>G
c.371C>G (p.Ser124Cys)
c.336C>G
n.486C>G
c.216C>G (p.Val72=)
c.250-316C>G (n.250-316C>G)
n.458C>G
n.391C>G
ClinVar
17g.80214644G>TCA401362594CARD14,SGSHn.2845-1222G>T
c.477C>A (p.Val159=)
c.495C>A (p.Val165=)
c.512C>A (p.Ser171Tyr)
n.376-316C>A
n.497C>A
n.374-316C>A
c.79C>A
c.371C>A (p.Ser124Tyr)
c.336C>A
n.486C>A
c.216C>A (p.Val72=)
c.250-316C>A (n.250-316C>A)
n.458C>A
n.391C>A
17g.80214645A=CA2277864331CARD14,SGSHn.2845-1221A=
c.476T= (p.Val159=)
c.494T= (p.Val165=)
c.511T= (p.Ser171=)
n.376-317T=
n.496T=
n.374-317T=
c.78T=
c.370T= (p.Ser124=)
c.335T=
n.485T=
c.215T= (p.Val72=)
c.250-317T= (n.250-317T=)
n.457T=
n.390T=
17g.80214645A>CCA401362597CARD14,SGSHn.2845-1221A>C
c.476T>G (p.Val159Gly)
c.494T>G (p.Val165Gly)
c.511T>G (p.Ser171Ala)
n.376-317T>G
n.496T>G
n.374-317T>G
c.78T>G
c.370T>G (p.Ser124Ala)
c.335T>G
n.485T>G
c.215T>G (p.Val72Gly)
c.250-317T>G (n.250-317T>G)
n.457T>G
n.390T>G
17g.80214645A>GCA401362599CARD14,SGSHn.2845-1221A>G
c.476T>C (p.Val159Ala)
c.494T>C (p.Val165Ala)
c.511T>C (p.Ser171Pro)
n.376-317T>C
n.496T>C
n.374-317T>C
c.78T>C
c.370T>C (p.Ser124Pro)
c.335T>C
n.485T>C
c.215T>C (p.Val72Ala)
c.250-317T>C (n.250-317T>C)
n.457T>C
n.390T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80214645A>TCA401362602CARD14,SGSHn.2845-1221A>T
c.476T>A (p.Val159Asp)
c.494T>A (p.Val165Asp)
c.511T>A (p.Ser171Thr)
n.376-317T>A
n.496T>A
n.374-317T>A
c.78T>A
c.370T>A (p.Ser124Thr)
c.335T>A
n.485T>A
c.215T>A (p.Val72Asp)
c.250-317T>A (n.250-317T>A)
n.457T>A
n.390T>A
17g.80214646C>ACA401362605CARD14,SGSHn.2845-1220C>A
c.475G>T (p.Val159Phe)
c.493G>T (p.Val165Phe)
c.510G>T (p.Ser170=)
n.376-318G>T
n.495G>T
n.374-318G>T
c.77G>T
c.369G>T (p.Ser123=)
c.334G>T
n.484G>T
c.214G>T (p.Val72Phe)
c.250-318G>T (n.250-318G>T)
n.456G>T
n.389G>T
17g.80214646C=CA2277864332CARD14,SGSHn.2845-1220C=
c.475G= (p.Val159=)
c.493G= (p.Val165=)
c.510G= (p.Ser170=)
n.376-318G=
n.495G=
n.374-318G=
c.77G=
c.369G= (p.Ser123=)
c.334G=
n.484G=
c.214G= (p.Val72=)
c.250-318G= (n.250-318G=)
n.456G=
n.389G=
17g.80214646C>GCA401362608CARD14,SGSHn.2845-1220C>G
c.475G>C (p.Val159Leu)
c.493G>C (p.Val165Leu)
c.510G>C (p.Ser170=)
n.376-318G>C
n.495G>C
n.374-318G>C
c.77G>C
c.369G>C (p.Ser123=)
c.334G>C
n.484G>C
c.214G>C (p.Val72Leu)
c.250-318G>C (n.250-318G>C)
n.456G>C
n.389G>C
17g.80214646C>TCA8818005CARD14,SGSHn.2845-1220C>T
c.475G>A (p.Val159Ile)
c.493G>A (p.Val165Ile)
c.510G>A (p.Ser170=)
n.376-318G>A
n.495G>A
n.374-318G>A
c.77G>A
c.369G>A (p.Ser123=)
c.334G>A
n.484G>A
c.214G>A (p.Val72Ile)
c.250-318G>A (n.250-318G>A)
n.456G>A
n.389G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214647G>ACA8818006CARD14,SGSHn.2845-1219G>A
c.474C>T (p.Leu158=)
c.492C>T (p.Leu164=)
c.509C>T (p.Ser170Leu)
n.376-319C>T
n.494C>T
n.374-319C>T
c.76C>T
c.368C>T (p.Ser123Leu)
c.333C>T
n.483C>T
c.213C>T (p.Leu71=)
c.250-319C>T (n.250-319C>T)
n.455C>T
n.388C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214647G>CCA8818007CARD14,SGSHn.2845-1219G>C
c.474C>G (p.Leu158=)
c.492C>G (p.Leu164=)
c.509C>G (p.Ser170Trp)
n.376-319C>G
n.494C>G
n.374-319C>G
c.76C>G
c.368C>G (p.Ser123Trp)
c.333C>G
n.483C>G
c.213C>G (p.Leu71=)
c.250-319C>G (n.250-319C>G)
n.455C>G
n.388C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214647G=CA2277864333CARD14,SGSHn.2845-1219G=
c.474C= (p.Leu158=)
c.492C= (p.Leu164=)
c.509C= (p.Ser170=)
n.376-319C=
n.494C=
n.374-319C=
c.76C=
c.368C= (p.Ser123=)
c.333C=
n.483C=
c.213C= (p.Leu71=)
c.250-319C= (n.250-319C=)
n.455C=
n.388C=
17g.80214647G>TCA401362613CARD14,SGSHn.2845-1219G>T
c.474C>A (p.Leu158=)
c.492C>A (p.Leu164=)
c.509C>A (p.Ser170Ter)
n.376-319C>A
n.494C>A
n.374-319C>A
c.76C>A
c.368C>A (p.Ser123Ter)
c.333C>A
n.483C>A
c.213C>A (p.Leu71=)
c.250-319C>A (n.250-319C>A)
n.455C>A
n.388C>A
dbSNP gnomAD v2 gnomAD v4
17g.80214648A>CCA401362619CARD14,SGSHn.2845-1218A>C
c.473T>G (p.Leu158Arg)
c.491T>G (p.Leu164Arg)
c.508T>G (p.Ser170Ala)
n.376-320T>G
n.493T>G
n.374-320T>G
c.75T>G
c.367T>G (p.Ser123Ala)
c.332T>G
n.482T>G
c.212T>G (p.Leu71Arg)
c.250-320T>G (n.250-320T>G)
n.454T>G
n.387T>G
17g.80214648A>GCA401362621CARD14,SGSHn.2845-1218A>G
c.473T>C (p.Leu158Pro)
c.491T>C (p.Leu164Pro)
c.508T>C (p.Ser170Pro)
n.376-320T>C
n.493T>C
n.374-320T>C
c.75T>C
c.367T>C (p.Ser123Pro)
c.332T>C
n.482T>C
c.212T>C (p.Leu71Pro)
c.250-320T>C (n.250-320T>C)
n.454T>C
n.387T>C
17g.80214648A>TCA401362623CARD14,SGSHn.2845-1218A>T
c.473T>A (p.Leu158His)
c.491T>A (p.Leu164His)
c.508T>A (p.Ser170Thr)
n.376-320T>A
n.493T>A
n.374-320T>A
c.75T>A
c.367T>A (p.Ser123Thr)
c.332T>A
n.482T>A
c.212T>A (p.Leu71His)
c.250-320T>A (n.250-320T>A)
n.454T>A
n.387T>A
17g.80214649G>ACA401362624CARD14,SGSHn.2845-1217G>A
c.472C>T (p.Leu158Phe)
c.490C>T (p.Leu164Phe)
c.507C>T (p.Cys169=)
n.376-321C>T
n.492C>T
n.374-321C>T
c.74C>T
c.366C>T (p.Cys122=)
c.331C>T
n.481C>T
c.211C>T (p.Leu71Phe)
c.250-321C>T (n.250-321C>T)
n.453C>T
n.386C>T
gnomAD v4
17g.80214649G>CCA401362626CARD14,SGSHn.2845-1217G>C
c.472C>G (p.Leu158Val)
c.490C>G (p.Leu164Val)
c.507C>G (p.Cys169Trp)
n.376-321C>G
n.492C>G
n.374-321C>G
c.74C>G
c.366C>G (p.Cys122Trp)
c.331C>G
n.481C>G
c.211C>G (p.Leu71Val)
c.250-321C>G (n.250-321C>G)
n.453C>G
n.386C>G
17g.80214649G>TCA401362628CARD14,SGSHn.2845-1217G>T
c.472C>A (p.Leu158Ile)
c.490C>A (p.Leu164Ile)
c.507C>A (p.Cys169Ter)
n.376-321C>A
n.492C>A
n.374-321C>A
c.74C>A
c.366C>A (p.Cys122Ter)
c.331C>A
n.481C>A
c.211C>A (p.Leu71Ile)
c.250-321C>A (n.250-321C>A)
n.453C>A
n.386C>A
17g.80214650C>ACA401362638CARD14,SGSHn.2845-1216C>A
c.471G>T (p.Leu157=)
c.489G>T (p.Leu163=)
c.506G>T (p.Cys169Phe)
n.376-322G>T
n.491G>T
n.374-322G>T
c.73G>T
c.365G>T (p.Cys122Phe)
c.330G>T
n.480G>T
c.210G>T (p.Leu70=)
c.250-322G>T (n.250-322G>T)
n.452G>T
n.385G>T
17g.80214650C>GCA401362632CARD14,SGSHn.2845-1216C>G
c.471G>C (p.Leu157=)
c.489G>C (p.Leu163=)
c.506G>C (p.Cys169Ser)
n.376-322G>C
n.491G>C
n.374-322G>C
c.73G>C
c.365G>C (p.Cys122Ser)
c.330G>C
n.480G>C
c.210G>C (p.Leu70=)
c.250-322G>C (n.250-322G>C)
n.452G>C
n.385G>C
17g.80214650C>TCA401362635CARD14,SGSHn.2845-1216C>T
c.471G>A (p.Leu157=)
c.489G>A (p.Leu163=)
c.506G>A (p.Cys169Tyr)
n.376-322G>A
n.491G>A
n.374-322G>A
c.73G>A
c.365G>A (p.Cys122Tyr)
c.330G>A
n.480G>A
c.210G>A (p.Leu70=)
c.250-322G>A (n.250-322G>A)
n.452G>A
n.385G>A
17g.80214651A>CCA401362641CARD14,SGSHn.2845-1215A>C
c.470T>G (p.Leu157Arg)
c.488T>G (p.Leu163Arg)
c.505T>G (p.Cys169Gly)
n.376-323T>G
n.490T>G
n.374-323T>G
c.72T>G
c.364T>G (p.Cys122Gly)
c.329T>G
n.479T>G
c.209T>G (p.Leu70Arg)
c.250-323T>G (n.250-323T>G)
n.451T>G
n.384T>G
17g.80214651A>GCA401362643CARD14,SGSHn.2845-1215A>G
c.470T>C (p.Leu157Pro)
c.488T>C (p.Leu163Pro)
c.505T>C (p.Cys169Arg)
n.376-323T>C
n.490T>C
n.374-323T>C
c.72T>C
c.364T>C (p.Cys122Arg)
c.329T>C
n.479T>C
c.209T>C (p.Leu70Pro)
c.250-323T>C (n.250-323T>C)
n.451T>C
n.384T>C
17g.80214651A>TCA401362646CARD14,SGSHn.2845-1215A>T
c.470T>A (p.Leu157Gln)
c.488T>A (p.Leu163Gln)
c.505T>A (p.Cys169Ser)
n.376-323T>A
n.490T>A
n.374-323T>A
c.72T>A
c.364T>A (p.Cys122Ser)
c.329T>A
n.479T>A
c.209T>A (p.Leu70Gln)
c.250-323T>A (n.250-323T>A)
n.451T>A
n.384T>A
gnomAD v4

Number of alleles fetched