Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
17g.80214652G>ACA502202985CARD14,SGSHn.2845-1214G>A
c.469C>T (p.Leu157=)
c.487C>T (p.Leu163=)
c.504C>T (p.Ser168=)
n.376-324C>T
n.489C>T
n.374-324C>T
c.71C>T
c.363C>T (p.Ser121=)
c.328C>T
n.478C>T
c.208C>T (p.Leu70=)
c.250-324C>T (n.250-324C>T)
n.450C>T
n.383C>T
17g.80214652G>CCA8818008CARD14,SGSHn.2845-1214G>C
c.469C>G (p.Leu157Val)
c.487C>G (p.Leu163Val)
c.504C>G (p.Ser168Arg)
n.376-324C>G
n.489C>G
n.374-324C>G
c.71C>G
c.363C>G (p.Ser121Arg)
c.328C>G
n.478C>G
c.208C>G (p.Leu70Val)
c.250-324C>G (n.250-324C>G)
n.450C>G
n.383C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214652G=CA2277864334CARD14,SGSHn.2845-1214G=
c.469C= (p.Leu157=)
c.487C= (p.Leu163=)
c.504C= (p.Ser168=)
n.376-324C=
n.489C=
n.374-324C=
c.71C=
c.363C= (p.Ser121=)
c.328C=
n.478C=
c.208C= (p.Leu70=)
c.250-324C= (n.250-324C=)
n.450C=
n.383C=
17g.80214652G>TCA401362650CARD14,SGSHn.2845-1214G>T
c.469C>A (p.Leu157Met)
c.487C>A (p.Leu163Met)
c.504C>A (p.Ser168Arg)
n.376-324C>A
n.489C>A
n.374-324C>A
c.71C>A
c.363C>A (p.Ser121Arg)
c.328C>A
n.478C>A
c.208C>A (p.Leu70Met)
c.250-324C>A (n.250-324C>A)
n.450C>A
n.383C>A
17g.80214653C>ACA8818009CARD14,SGSHn.2845-1213C>A
c.468G>T (p.Lys156Asn)
c.486G>T (p.Lys162Asn)
c.503G>T (p.Ser168Ile)
n.376-325G>T
n.488G>T
n.374-325G>T
c.70G>T
c.362G>T (p.Ser121Ile)
c.327G>T
n.477G>T
c.207G>T (p.Lys69Asn)
c.250-325G>T (n.250-325G>T)
n.449G>T
n.382G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214653C=CA2277864335CARD14,SGSHn.2845-1213C=
c.468G= (p.Lys156=)
c.486G= (p.Lys162=)
c.503G= (p.Ser168=)
n.376-325G=
n.488G=
n.374-325G=
c.70G=
c.362G= (p.Ser121=)
c.327G=
n.477G=
c.207G= (p.Lys69=)
c.250-325G= (n.250-325G=)
n.449G=
n.382G=
17g.80214653C>GCA401362657CARD14,SGSHn.2845-1213C>G
c.468G>C (p.Lys156Asn)
c.486G>C (p.Lys162Asn)
c.503G>C (p.Ser168Thr)
n.376-325G>C
n.488G>C
n.374-325G>C
c.70G>C
c.362G>C (p.Ser121Thr)
c.327G>C
n.477G>C
c.207G>C (p.Lys69Asn)
c.250-325G>C (n.250-325G>C)
n.449G>C
n.382G>C
17g.80214653C>TCA401362655CARD14,SGSHn.2845-1213C>T
c.468G>A (p.Lys156=)
c.486G>A (p.Lys162=)
c.503G>A (p.Ser168Asn)
n.376-325G>A
n.488G>A
n.374-325G>A
c.70G>A
c.362G>A (p.Ser121Asn)
c.327G>A
n.477G>A
c.207G>A (p.Lys69=)
c.250-325G>A (n.250-325G>A)
n.449G>A
n.382G>A
17g.80214654T>ACA401362659CARD14,SGSHn.2845-1212T>A
c.467A>T (p.Lys156Met)
c.485A>T (p.Lys162Met)
c.502A>T (p.Ser168Cys)
n.376-326A>T
n.487A>T
n.374-326A>T
c.69A>T
c.361A>T (p.Ser121Cys)
c.326A>T
n.476A>T
c.206A>T (p.Lys69Met)
c.250-326A>T (n.250-326A>T)
n.448A>T
n.381A>T
17g.80214654T>CCA401362661CARD14,SGSHn.2845-1212T>C
c.467A>G (p.Lys156Arg)
c.485A>G (p.Lys162Arg)
c.502A>G (p.Ser168Gly)
n.376-326A>G
n.487A>G
n.374-326A>G
c.69A>G
c.361A>G (p.Ser121Gly)
c.326A>G
n.476A>G
c.206A>G (p.Lys69Arg)
c.250-326A>G (n.250-326A>G)
n.448A>G
n.381A>G
 gnomAD v4
17g.80214654T>GCA401362662CARD14,SGSHn.2845-1212T>G
c.467A>C (p.Lys156Thr)
c.485A>C (p.Lys162Thr)
c.502A>C (p.Ser168Arg)
n.376-326A>C
n.487A>C
n.374-326A>C
c.69A>C
c.361A>C (p.Ser121Arg)
c.326A>C
n.476A>C
c.206A>C (p.Lys69Thr)
c.250-326A>C (n.250-326A>C)
n.448A>C
n.381A>C
17g.80214655dupCA2640319921CARD14,SGSHn.2845-1211dup
c.467dup (p.Leu157AlafsTer12)
c.485dup (p.Leu163AlafsTer12)
c.502dup (p.Ser168LysfsTer?)
n.376-326dup
n.487dup
n.374-326dup
c.69dup
c.361dup (p.Ser121LysfsTer?)
c.326dup
n.476dup
c.206dup (p.Leu70AlafsTer12)
c.250-326dup (n.250-326dup)
n.448dup
n.381dup
 gnomAD v4
17g.80214655T>ACA401362665CARD14,SGSHn.2845-1211T>A
c.466A>T (p.Lys156Ter)
c.484A>T (p.Lys162Ter)
c.501A>T (p.Leu167Phe)
n.376-327A>T
n.486A>T
n.374-327A>T
c.68A>T
c.360A>T (p.Leu120Phe)
c.325A>T
n.475A>T
c.205A>T (p.Lys69Ter)
c.250-327A>T (n.250-327A>T)
n.447A>T
n.380A>T
 ClinVar dbSNP
17g.80214655T>CCA401362667CARD14,SGSHn.2845-1211T>C
c.466A>G (p.Lys156Glu)
c.484A>G (p.Lys162Glu)
c.501A>G (p.Leu167=)
n.376-327A>G
n.486A>G
n.374-327A>G
c.68A>G
c.360A>G (p.Leu120=)
c.325A>G
n.475A>G
c.205A>G (p.Lys69Glu)
c.250-327A>G (n.250-327A>G)
n.447A>G
n.380A>G
17g.80214655T>GCA401362668CARD14,SGSHn.2845-1211T>G
c.466A>C (p.Lys156Gln)
c.484A>C (p.Lys162Gln)
c.501A>C (p.Leu167Phe)
n.376-327A>C
n.486A>C
n.374-327A>C
c.68A>C
c.360A>C (p.Leu120Phe)
c.325A>C
n.475A>C
c.205A>C (p.Lys69Gln)
c.250-327A>C (n.250-327A>C)
n.447A>C
n.380A>C
17g.80214655T=CA2277864336CARD14,SGSHn.2845-1211T=
c.466A= (p.Lys156=)
c.484A= (p.Lys162=)
c.501A= (p.Leu167=)
n.376-327A=
n.486A=
n.374-327A=
c.68A=
c.360A= (p.Leu120=)
c.325A=
n.475A=
c.205A= (p.Lys69=)
c.250-327A= (n.250-327A=)
n.447A=
n.380A=
17g.80214656A=CA2277864337CARD14,SGSHn.2845-1210A=
c.465T= (p.Ile155=)
c.483T= (p.Ile161=)
c.500T= (p.Leu167=)
n.376-328T=
n.485T=
n.374-328T=
c.67T=
c.359T= (p.Leu120=)
c.324T=
n.474T=
c.204T= (p.Ile68=)
c.250-328T= (n.250-328T=)
n.446T=
n.379T=
17g.80214656A>CCA8818010CARD14,SGSHn.2845-1210A>C
c.465T>G (p.Ile155Met)
c.483T>G (p.Ile161Met)
c.500T>G (p.Leu167Ter)
n.376-328T>G
n.485T>G
n.374-328T>G
c.67T>G
c.359T>G (p.Leu120Ter)
c.324T>G
n.474T>G
c.204T>G (p.Ile68Met)
c.250-328T>G (n.250-328T>G)
n.446T>G
n.379T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214656A>GCA401362672CARD14,SGSHn.2845-1210A>G
c.465T>C (p.Ile155=)
c.483T>C (p.Ile161=)
c.500T>C (p.Leu167Ser)
n.376-328T>C
n.485T>C
n.374-328T>C
c.67T>C
c.359T>C (p.Leu120Ser)
c.324T>C
n.474T>C
c.204T>C (p.Ile68=)
c.250-328T>C (n.250-328T>C)
n.446T>C
n.379T>C
17g.80214656A>TCA401362673CARD14,SGSHn.2845-1210A>T
c.465T>A (p.Ile155=)
c.483T>A (p.Ile161=)
c.500T>A (p.Leu167Ter)
n.376-328T>A
n.485T>A
n.374-328T>A
c.67T>A
c.359T>A (p.Leu120Ter)
c.324T>A
n.474T>A
c.204T>A (p.Ile68=)
c.250-328T>A (n.250-328T>A)
n.446T>A
n.379T>A
17g.80214657A>CCA401362675CARD14,SGSHn.2845-1209A>C
c.464T>G (p.Ile155Ser)
c.482T>G (p.Ile161Ser)
c.499T>G (p.Leu167Val)
n.376-329T>G
n.484T>G
n.374-329T>G
c.66T>G
c.358T>G (p.Leu120Val)
c.323T>G
n.473T>G
c.203T>G (p.Ile68Ser)
c.250-329T>G (n.250-329T>G)
n.445T>G
n.378T>G
17g.80214657A>GCA401362677CARD14,SGSHn.2845-1209A>G
c.464T>C (p.Ile155Thr)
c.482T>C (p.Ile161Thr)
c.499T>C (p.Leu167=)
n.376-329T>C
n.484T>C
n.374-329T>C
c.66T>C
c.358T>C (p.Leu120=)
c.323T>C
n.473T>C
c.203T>C (p.Ile68Thr)
c.250-329T>C (n.250-329T>C)
n.445T>C
n.378T>C
17g.80214657A>TCA401362679CARD14,SGSHn.2845-1209A>T
c.464T>A (p.Ile155Asn)
c.482T>A (p.Ile161Asn)
c.499T>A (p.Leu167Ile)
n.376-329T>A
n.484T>A
n.374-329T>A
c.66T>A
c.358T>A (p.Leu120Ile)
c.323T>A
n.473T>A
c.203T>A (p.Ile68Asn)
c.250-329T>A (n.250-329T>A)
n.445T>A
n.378T>A
17g.80214658T>ACA401362685CARD14,SGSHn.2845-1208T>A
c.463A>T (p.Ile155Phe)
c.481A>T (p.Ile161Phe)
c.498A>T (p.Glu166Asp)
n.376-330A>T
n.483A>T
n.374-330A>T
c.65A>T
c.357A>T (p.Glu119Asp)
c.322A>T
n.472A>T
c.202A>T (p.Ile68Phe)
c.250-330A>T (n.250-330A>T)
n.444A>T
n.377A>T
17g.80214658T>CCA401362683CARD14,SGSHn.2845-1208T>C
c.463A>G (p.Ile155Val)
c.481A>G (p.Ile161Val)
c.498A>G (p.Glu166=)
n.376-330A>G
n.483A>G
n.374-330A>G
c.65A>G
c.357A>G (p.Glu119=)
c.322A>G
n.472A>G
c.202A>G (p.Ile68Val)
c.250-330A>G (n.250-330A>G)
n.444A>G
n.377A>G
17g.80214658T>GCA401362681CARD14,SGSHn.2845-1208T>G
c.463A>C (p.Ile155Leu)
c.481A>C (p.Ile161Leu)
c.498A>C (p.Glu166Asp)
n.376-330A>C
n.483A>C
n.374-330A>C
c.65A>C
c.357A>C (p.Glu119Asp)
c.322A>C
n.472A>C
c.202A>C (p.Ile68Leu)
c.250-330A>C (n.250-330A>C)
n.444A>C
n.377A>C
17g.80214662_80215431delCA2573155034CARD14,SGSHn.2845-1204_2845-435del
c.250-289_463del
c.250-289_481del
c.285-289_498del
n.270-289_376-330del
n.270-289_483del
n.268-289_374-330del
c.250-662_357del
c.195-289_322del
n.259-289_472del
c.-12-289_202del
c.250-1099_250-330del (n.250-1099_250-330del)
n.337-662_444del
n.270-662_377del
 ClinVar dbSNP
17g.80214659T>ACA401362689CARD14,SGSHn.2845-1207T>A
c.462A>T (p.Arg154Ser)
c.480A>T (p.Arg160Ser)
c.497A>T (p.Glu166Val)
n.376-331A>T
n.482A>T
n.374-331A>T
c.64A>T
c.356A>T (p.Glu119Val)
c.321A>T
n.471A>T
c.201A>T (p.Arg67Ser)
c.250-331A>T (n.250-331A>T)
n.443A>T
n.376A>T
17g.80214659T>CCA401362687CARD14,SGSHn.2845-1207T>C
c.462A>G (p.Arg154=)
c.480A>G (p.Arg160=)
c.497A>G (p.Glu166Gly)
n.376-331A>G
n.482A>G
n.374-331A>G
c.64A>G
c.356A>G (p.Glu119Gly)
c.321A>G
n.471A>G
c.201A>G (p.Arg67=)
c.250-331A>G (n.250-331A>G)
n.443A>G
n.376A>G
17g.80214659T>GCA401362690CARD14,SGSHn.2845-1207T>G
c.462A>C (p.Arg154Ser)
c.480A>C (p.Arg160Ser)
c.497A>C (p.Glu166Ala)
n.376-331A>C
n.482A>C
n.374-331A>C
c.64A>C
c.356A>C (p.Glu119Ala)
c.321A>C
n.471A>C
c.201A>C (p.Arg67Ser)
c.250-331A>C (n.250-331A>C)
n.443A>C
n.376A>C
17g.80214659T=CA2277864338CARD14,SGSHn.2845-1207T=
c.462A= (p.Arg154=)
c.480A= (p.Arg160=)
c.497A= (p.Glu166=)
n.376-331A=
n.482A=
n.374-331A=
c.64A=
c.356A= (p.Glu119=)
c.321A=
n.471A=
c.201A= (p.Arg67=)
c.250-331A= (n.250-331A=)
n.443A=
n.376A=
17g.80214659_80214660insACA294897751CARD14,SGSHn.2845-1207_2845-1206insA
c.461_462insT (p.Arg154SerfsTer3)
c.479_480insT (p.Arg160SerfsTer3)
c.496_497insT (p.Glu166ValfsTer?)
n.376-332_376-331insT
n.481_482insT
n.374-332_374-331insT
c.63_64insT
c.355_356insT (p.Glu119ValfsTer?)
c.320_321insT
n.470_471insT
c.200_201insT (p.Arg67SerfsTer3)
c.250-332_250-331insT (n.250-332_250-331insT)
n.442_443insT
n.375_376insT
 dbSNP
17g.80214660C>ACA401362694CARD14,SGSHn.2845-1206C>A
c.461G>T (p.Arg154Ile)
c.479G>T (p.Arg160Ile)
c.496G>T (p.Glu166Ter)
n.376-332G>T
n.481G>T
n.374-332G>T
c.63G>T
c.355G>T (p.Glu119Ter)
c.320G>T
n.470G>T
c.200G>T (p.Arg67Ile)
c.250-332G>T (n.250-332G>T)
n.442G>T
n.375G>T
17g.80214660C>GCA401362697CARD14,SGSHn.2845-1206C>G
c.461G>C (p.Arg154Thr)
c.479G>C (p.Arg160Thr)
c.496G>C (p.Glu166Gln)
n.376-332G>C
n.481G>C
n.374-332G>C
c.63G>C
c.355G>C (p.Glu119Gln)
c.320G>C
n.470G>C
c.200G>C (p.Arg67Thr)
c.250-332G>C (n.250-332G>C)
n.442G>C
n.375G>C
17g.80214660C>TCA401362699CARD14,SGSHn.2845-1206C>T
c.461G>A (p.Arg154Lys)
c.479G>A (p.Arg160Lys)
c.496G>A (p.Glu166Lys)
n.376-332G>A
n.481G>A
n.374-332G>A
c.63G>A
c.355G>A (p.Glu119Lys)
c.320G>A
n.470G>A
c.200G>A (p.Arg67Lys)
c.250-332G>A (n.250-332G>A)
n.442G>A
n.375G>A
17g.80214661T>ACA401362701CARD14,SGSHn.2845-1205T>A
c.460A>T (p.Arg154Ter)
c.478A>T (p.Arg160Ter)
c.495A>T (p.Leu165=)
n.376-333A>T
n.480A>T
n.374-333A>T
c.62A>T
c.354A>T (p.Leu118=)
c.319A>T
n.469A>T
c.199A>T (p.Arg67Ter)
c.250-333A>T (n.250-333A>T)
n.441A>T
n.374A>T
17g.80214661T>CCA401362703CARD14,SGSHn.2845-1205T>C
c.460A>G (p.Arg154Gly)
c.478A>G (p.Arg160Gly)
c.495A>G (p.Leu165=)
n.376-333A>G
n.480A>G
n.374-333A>G
c.62A>G
c.354A>G (p.Leu118=)
c.319A>G
n.469A>G
c.199A>G (p.Arg67Gly)
c.250-333A>G (n.250-333A>G)
n.441A>G
n.374A>G
 gnomAD v4
17g.80214661T>GCA502203030CARD14,SGSHn.2845-1205T>G
c.460A>C (p.Arg154=)
c.478A>C (p.Arg160=)
c.495A>C (p.Leu165=)
n.376-333A>C
n.480A>C
n.374-333A>C
c.62A>C
c.354A>C (p.Leu118=)
c.319A>C
n.469A>C
c.199A>C (p.Arg67=)
c.250-333A>C (n.250-333A>C)
n.441A>C
n.374A>C
17g.80214662A=CA2277864339CARD14,SGSHn.2845-1204A=
c.459T= (p.Thr153=)
c.477T= (p.Thr159=)
c.494T= (p.Leu165=)
n.376-334T=
n.479T=
n.374-334T=
c.61T=
c.353T= (p.Leu118=)
c.318T=
n.468T=
c.198T= (p.Thr66=)
c.250-334T= (n.250-334T=)
n.440T=
n.373T=
17g.80214662A>CCA401362705CARD14,SGSHn.2845-1204A>C
c.459T>G (p.Thr153=)
c.477T>G (p.Thr159=)
c.494T>G (p.Leu165Arg)
n.376-334T>G
n.479T>G
n.374-334T>G
c.61T>G
c.353T>G (p.Leu118Arg)
c.318T>G
n.468T>G
c.198T>G (p.Thr66=)
c.250-334T>G (n.250-334T>G)
n.440T>G
n.373T>G
17g.80214662A>GCA8818011CARD14,SGSHn.2845-1204A>G
c.459T>C (p.Thr153=)
c.477T>C (p.Thr159=)
c.494T>C (p.Leu165Pro)
n.376-334T>C
n.479T>C
n.374-334T>C
c.61T>C
c.353T>C (p.Leu118Pro)
c.318T>C
n.468T>C
c.198T>C (p.Thr66=)
c.250-334T>C (n.250-334T>C)
n.440T>C
n.373T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214662A>TCA401362708CARD14,SGSHn.2845-1204A>T
c.459T>A (p.Thr153=)
c.477T>A (p.Thr159=)
c.494T>A (p.Leu165Gln)
n.376-334T>A
n.479T>A
n.374-334T>A
c.61T>A
c.353T>A (p.Leu118Gln)
c.318T>A
n.468T>A
c.198T>A (p.Thr66=)
c.250-334T>A (n.250-334T>A)
n.440T>A
n.373T>A
17g.80214663G>ACA401362711CARD14,SGSHn.2845-1203G>A
c.458C>T (p.Thr153Ile)
c.476C>T (p.Thr159Ile)
c.493C>T (p.Leu165=)
n.376-335C>T
n.478C>T
n.374-335C>T
c.60C>T
c.352C>T (p.Leu118=)
c.317C>T
n.467C>T
c.197C>T (p.Thr66Ile)
c.250-335C>T (n.250-335C>T)
n.439C>T
n.372C>T
17g.80214663G>CCA401362712CARD14,SGSHn.2845-1203G>C
c.458C>G (p.Thr153Ser)
c.476C>G (p.Thr159Ser)
c.493C>G (p.Leu165Val)
n.376-335C>G
n.478C>G
n.374-335C>G
c.60C>G
c.352C>G (p.Leu118Val)
c.317C>G
n.467C>G
c.197C>G (p.Thr66Ser)
c.250-335C>G (n.250-335C>G)
n.439C>G
n.372C>G
17g.80214663G>TCA401362714CARD14,SGSHn.2845-1203G>T
c.458C>A (p.Thr153Asn)
c.476C>A (p.Thr159Asn)
c.493C>A (p.Leu165Ile)
n.376-335C>A
n.478C>A
n.374-335C>A
c.60C>A
c.352C>A (p.Leu118Ile)
c.317C>A
n.467C>A
c.197C>A (p.Thr66Asn)
c.250-335C>A (n.250-335C>A)
n.439C>A
n.372C>A
17g.80214664T>ACA401362720CARD14,SGSHn.2845-1202T>A
c.457A>T (p.Thr153Ser)
c.475A>T (p.Thr159Ser)
c.492A>T (p.Ser164=)
n.376-336A>T
n.477A>T
n.374-336A>T
c.59A>T
c.351A>T (p.Ser117=)
c.316A>T
n.466A>T
c.196A>T (p.Thr66Ser)
c.250-336A>T (n.250-336A>T)
n.438A>T
n.371A>T
 dbSNP gnomAD v2 gnomAD v4
17g.80214664T>CCA401362718CARD14,SGSHn.2845-1202T>C
c.457A>G (p.Thr153Ala)
c.475A>G (p.Thr159Ala)
c.492A>G (p.Ser164=)
n.376-336A>G
n.477A>G
n.374-336A>G
c.59A>G
c.351A>G (p.Ser117=)
c.316A>G
n.466A>G
c.196A>G (p.Thr66Ala)
c.250-336A>G (n.250-336A>G)
n.438A>G
n.371A>G
17g.80214664T>GCA401362716CARD14,SGSHn.2845-1202T>G
c.457A>C (p.Thr153Pro)
c.475A>C (p.Thr159Pro)
c.492A>C (p.Ser164=)
n.376-336A>C
n.477A>C
n.374-336A>C
c.59A>C
c.351A>C (p.Ser117=)
c.316A>C
n.466A>C
c.196A>C (p.Thr66Pro)
c.250-336A>C (n.250-336A>C)
n.438A>C
n.371A>C
17g.80214664T=CA2277864340CARD14,SGSHn.2845-1202T=
c.457A= (p.Thr153=)
c.475A= (p.Thr159=)
c.492A= (p.Ser164=)
n.376-336A=
n.477A=
n.374-336A=
c.59A=
c.351A= (p.Ser117=)
c.316A=
n.466A=
c.196A= (p.Thr66=)
c.250-336A= (n.250-336A=)
n.438A=
n.371A=
17g.80214665G>ACA401362722CARD14,SGSHn.2845-1201G>A
c.456C>T (p.Ile152=)
c.474C>T (p.Ile158=)
c.491C>T (p.Ser164Leu)
n.376-337C>T
n.476C>T
n.374-337C>T
c.58C>T
c.350C>T (p.Ser117Leu)
c.315C>T
n.465C>T
c.195C>T (p.Ile65=)
c.250-337C>T (n.250-337C>T)
n.437C>T
n.370C>T
17g.80214665G>CCA8818012CARD14,SGSHn.2845-1201G>C
c.456C>G (p.Ile152Met)
c.474C>G (p.Ile158Met)
c.491C>G (p.Ser164Ter)
n.376-337C>G
n.476C>G
n.374-337C>G
c.58C>G
c.350C>G (p.Ser117Ter)
c.315C>G
n.465C>G
c.195C>G (p.Ile65Met)
c.250-337C>G (n.250-337C>G)
n.437C>G
n.370C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214665G=CA2277864341CARD14,SGSHn.2845-1201G=
c.456C= (p.Ile152=)
c.474C= (p.Ile158=)
c.491C= (p.Ser164=)
n.376-337C=
n.476C=
n.374-337C=
c.58C=
c.350C= (p.Ser117=)
c.315C=
n.465C=
c.195C= (p.Ile65=)
c.250-337C= (n.250-337C=)
n.437C=
n.370C=
17g.80214665G>TCA401362725CARD14,SGSHn.2845-1201G>T
c.456C>A (p.Ile152=)
c.474C>A (p.Ile158=)
c.491C>A (p.Ser164Ter)
n.376-337C>A
n.476C>A
n.374-337C>A
c.58C>A
c.350C>A (p.Ser117Ter)
c.315C>A
n.465C>A
c.195C>A (p.Ile65=)
c.250-337C>A (n.250-337C>A)
n.437C>A
n.370C>A
17g.80214666A=CA2277864342CARD14,SGSHn.2845-1200A=
c.455T= (p.Ile152=)
c.473T= (p.Ile158=)
c.490T= (p.Ser164=)
n.376-338T=
n.475T=
n.374-338T=
c.57T=
c.349T= (p.Ser117=)
c.314T=
n.464T=
c.194T= (p.Ile65=)
c.250-338T= (n.250-338T=)
n.436T=
n.369T=
17g.80214666A>CCA401362727CARD14,SGSHn.2845-1200A>C
c.455T>G (p.Ile152Ser)
c.473T>G (p.Ile158Ser)
c.490T>G (p.Ser164Ala)
n.376-338T>G
n.475T>G
n.374-338T>G
c.57T>G
c.349T>G (p.Ser117Ala)
c.314T>G
n.464T>G
c.194T>G (p.Ile65Ser)
c.250-338T>G (n.250-338T>G)
n.436T>G
n.369T>G
 dbSNP gnomAD v2 gnomAD v4
17g.80214666A>GCA8818013CARD14,SGSHn.2845-1200A>G
c.455T>C (p.Ile152Thr)
c.473T>C (p.Ile158Thr)
c.490T>C (p.Ser164Pro)
n.376-338T>C
n.475T>C
n.374-338T>C
c.57T>C
c.349T>C (p.Ser117Pro)
c.314T>C
n.464T>C
c.194T>C (p.Ile65Thr)
c.250-338T>C (n.250-338T>C)
n.436T>C
n.369T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214666A>TCA401362729CARD14,SGSHn.2845-1200A>T
c.455T>A (p.Ile152Asn)
c.473T>A (p.Ile158Asn)
c.490T>A (p.Ser164Thr)
n.376-338T>A
n.475T>A
n.374-338T>A
c.57T>A
c.349T>A (p.Ser117Thr)
c.314T>A
n.464T>A
c.194T>A (p.Ile65Asn)
c.250-338T>A (n.250-338T>A)
n.436T>A
n.369T>A
17g.80214667T>ACA401362731CARD14,SGSHn.2845-1199T>A
c.454A>T (p.Ile152Phe)
c.472A>T (p.Ile158Phe)
c.489A>T (p.Thr163=)
n.376-339A>T
n.474A>T
n.374-339A>T
c.56A>T
c.348A>T (p.Thr116=)
c.313A>T
n.463A>T
c.193A>T (p.Ile65Phe)
c.250-339A>T (n.250-339A>T)
n.435A>T
n.368A>T
17g.80214667T>CCA294897779CARD14,SGSHn.2845-1199T>C
c.454A>G (p.Ile152Val)
c.472A>G (p.Ile158Val)
c.489A>G (p.Thr163=)
n.376-339A>G
n.474A>G
n.374-339A>G
c.56A>G
c.348A>G (p.Thr116=)
c.313A>G
n.463A>G
c.193A>G (p.Ile65Val)
c.250-339A>G (n.250-339A>G)
n.435A>G
n.368A>G
 dbSNP gnomAD v3 gnomAD v4
17g.80214667T>GCA401362733CARD14,SGSHn.2845-1199T>G
c.454A>C (p.Ile152Leu)
c.472A>C (p.Ile158Leu)
c.489A>C (p.Thr163=)
n.376-339A>C
n.474A>C
n.374-339A>C
c.56A>C
c.348A>C (p.Thr116=)
c.313A>C
n.463A>C
c.193A>C (p.Ile65Leu)
c.250-339A>C (n.250-339A>C)
n.435A>C
n.368A>C
17g.80214667T=CA2277864343CARD14,SGSHn.2845-1199T=
c.454A= (p.Ile152=)
c.472A= (p.Ile158=)
c.489A= (p.Thr163=)
n.376-339A=
n.474A=
n.374-339A=
c.56A=
c.348A= (p.Thr116=)
c.313A=
n.463A=
c.193A= (p.Ile65=)
c.250-339A= (n.250-339A=)
n.435A=
n.368A=
17g.80214668G>ACA401362736CARD14,SGSHn.2845-1198G>A
c.453C>T (p.Asn151=)
c.471C>T (p.Asn157=)
c.488C>T (p.Thr163Ile)
n.376-340C>T
n.473C>T
n.374-340C>T
c.55C>T
c.347C>T (p.Thr116Ile)
c.312C>T
n.462C>T
c.192C>T (p.Asn64=)
c.250-340C>T (n.250-340C>T)
n.434C>T
n.367C>T
17g.80214668G>CCA401362737CARD14,SGSHn.2845-1198G>C
c.453C>G (p.Asn151Lys)
c.471C>G (p.Asn157Lys)
c.488C>G (p.Thr163Arg)
n.376-340C>G
n.473C>G
n.374-340C>G
c.55C>G
c.347C>G (p.Thr116Arg)
c.312C>G
n.462C>G
c.192C>G (p.Asn64Lys)
c.250-340C>G (n.250-340C>G)
n.434C>G
n.367C>G
17g.80214668G>TCA401362738CARD14,SGSHn.2845-1198G>T
c.453C>A (p.Asn151Lys)
c.471C>A (p.Asn157Lys)
c.488C>A (p.Thr163Lys)
n.376-340C>A
n.473C>A
n.374-340C>A
c.55C>A
c.347C>A (p.Thr116Lys)
c.312C>A
n.462C>A
c.192C>A (p.Asn64Lys)
c.250-340C>A (n.250-340C>A)
n.434C>A
n.367C>A
17g.80214669T>ACA401362744CARD14,SGSHn.2845-1197T>A
c.452A>T (p.Asn151Ile)
c.470A>T (p.Asn157Ile)
c.487A>T (p.Thr163Ser)
n.376-341A>T
n.472A>T
n.374-341A>T
c.54A>T
c.346A>T (p.Thr116Ser)
c.311A>T
n.461A>T
c.191A>T (p.Asn64Ile)
c.250-341A>T (n.250-341A>T)
n.433A>T
n.366A>T
17g.80214669T>CCA401362742CARD14,SGSHn.2845-1197T>C
c.452A>G (p.Asn151Ser)
c.470A>G (p.Asn157Ser)
c.487A>G (p.Thr163Ala)
n.376-341A>G
n.472A>G
n.374-341A>G
c.54A>G
c.346A>G (p.Thr116Ala)
c.311A>G
n.461A>G
c.191A>G (p.Asn64Ser)
c.250-341A>G (n.250-341A>G)
n.433A>G
n.366A>G
17g.80214669T>GCA401362741CARD14,SGSHn.2845-1197T>G
c.452A>C (p.Asn151Thr)
c.470A>C (p.Asn157Thr)
c.487A>C (p.Thr163Pro)
n.376-341A>C
n.472A>C
n.374-341A>C
c.54A>C
c.346A>C (p.Thr116Pro)
c.311A>C
n.461A>C
c.191A>C (p.Asn64Thr)
c.250-341A>C (n.250-341A>C)
n.433A>C
n.366A>C
17g.80214670T>ACA401362746CARD14,SGSHn.2845-1196T>A
c.451A>T (p.Asn151Tyr)
c.469A>T (p.Asn157Tyr)
c.486A>T (p.Gly162=)
n.376-342A>T
n.471A>T
n.374-342A>T
c.53A>T
c.345A>T (p.Gly115=)
c.310A>T
n.460A>T
c.190A>T (p.Asn64Tyr)
c.250-342A>T (n.250-342A>T)
n.432A>T
n.365A>T
17g.80214670T>CCA401362748CARD14,SGSHn.2845-1196T>C
c.451A>G (p.Asn151Asp)
c.469A>G (p.Asn157Asp)
c.486A>G (p.Gly162=)
n.376-342A>G
n.471A>G
n.374-342A>G
c.53A>G
c.345A>G (p.Gly115=)
c.310A>G
n.460A>G
c.190A>G (p.Asn64Asp)
c.250-342A>G (n.250-342A>G)
n.432A>G
n.365A>G
17g.80214670T>GCA401362750CARD14,SGSHn.2845-1196T>G
c.451A>C (p.Asn151His)
c.469A>C (p.Asn157His)
c.486A>C (p.Gly162=)
n.376-342A>C
n.471A>C
n.374-342A>C
c.53A>C
c.345A>C (p.Gly115=)
c.310A>C
n.460A>C
c.190A>C (p.Asn64His)
c.250-342A>C (n.250-342A>C)
n.432A>C
n.365A>C
17g.80214671C>ACA401362752CARD14,SGSHn.2845-1195C>A
c.450G>T (p.Arg150=)
c.468G>T (p.Arg156=)
c.485G>T (p.Gly162Val)
n.376-343G>T
n.470G>T
n.374-343G>T
c.52G>T
c.344G>T (p.Gly115Val)
c.309G>T
n.459G>T
c.189G>T (p.Arg63=)
c.250-343G>T (n.250-343G>T)
n.431G>T
n.364G>T
17g.80214671C>GCA401362753CARD14,SGSHn.2845-1195C>G
c.450G>C (p.Arg150=)
c.468G>C (p.Arg156=)
c.485G>C (p.Gly162Ala)
n.376-343G>C
n.470G>C
n.374-343G>C
c.52G>C
c.344G>C (p.Gly115Ala)
c.309G>C
n.459G>C
c.189G>C (p.Arg63=)
c.250-343G>C (n.250-343G>C)
n.431G>C
n.364G>C
17g.80214671C>TCA401362755CARD14,SGSHn.2845-1195C>T
c.450G>A (p.Arg150=)
c.468G>A (p.Arg156=)
c.485G>A (p.Gly162Glu)
n.376-343G>A
n.470G>A
n.374-343G>A
c.52G>A
c.344G>A (p.Gly115Glu)
c.309G>A
n.459G>A
c.189G>A (p.Arg63=)
c.250-343G>A (n.250-343G>A)
n.431G>A
n.364G>A
17g.80214672C>ACA401362760CARD14,SGSHn.2845-1194C>A
c.449G>T (p.Arg150Leu)
c.467G>T (p.Arg156Leu)
c.484G>T (p.Gly162Ter)
n.376-344G>T
n.469G>T
n.374-344G>T
c.51G>T
c.343G>T (p.Gly115Ter)
c.308G>T
n.458G>T
c.188G>T (p.Arg63Leu)
c.250-344G>T (n.250-344G>T)
n.430G>T
n.363G>T
17g.80214672C=CA2277864344CARD14,SGSHn.2845-1194C=
c.449G= (p.Arg150=)
c.467G= (p.Arg156=)
c.484G= (p.Gly162=)
n.376-344G=
n.469G=
n.374-344G=
c.51G=
c.343G= (p.Gly115=)
c.308G=
n.458G=
c.188G= (p.Arg63=)
c.250-344G= (n.250-344G=)
n.430G=
n.363G=
17g.80214672C>GCA401362757CARD14,SGSHn.2845-1194C>G
c.449G>C (p.Arg150Pro)
c.467G>C (p.Arg156Pro)
c.484G>C (p.Gly162Arg)
n.376-344G>C
n.469G>C
n.374-344G>C
c.51G>C
c.343G>C (p.Gly115Arg)
c.308G>C
n.458G>C
c.188G>C (p.Arg63Pro)
c.250-344G>C (n.250-344G>C)
n.430G>C
n.363G>C
17g.80214672C>TCA117262CARD14,SGSHn.2845-1194C>T
c.449G>A (p.Arg150Gln)
c.467G>A (p.Arg156Gln)
c.484G>A (p.Gly162Arg)
n.376-344G>A
n.469G>A
n.374-344G>A
c.51G>A
c.343G>A (p.Gly115Arg)
c.308G>A
n.458G>A
c.188G>A (p.Arg63Gln)
c.250-344G>A (n.250-344G>A)
n.430G>A
n.363G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214673G>ACA401362762CARD14,SGSHn.2845-1193G>A
c.448C>T (p.Arg150Trp)
c.466C>T (p.Arg156Trp)
c.483C>T (p.Gly161=)
n.376-345C>T
n.468C>T
n.374-345C>T
c.50C>T
c.342C>T (p.Gly114=)
c.307C>T
n.457C>T
c.187C>T (p.Arg63Trp)
c.250-345C>T (n.250-345C>T)
n.429C>T
n.362C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214673G>CCA401362764CARD14,SGSHn.2845-1193G>C
c.448C>G (p.Arg150Gly)
c.466C>G (p.Arg156Gly)
c.483C>G (p.Gly161=)
n.376-345C>G
n.468C>G
n.374-345C>G
c.50C>G
c.342C>G (p.Gly114=)
c.307C>G
n.457C>G
c.187C>G (p.Arg63Gly)
c.250-345C>G (n.250-345C>G)
n.429C>G
n.362C>G
17g.80214673G=CA2277864345CARD14,SGSHn.2845-1193G=
c.448C= (p.Arg150=)
c.466C= (p.Arg156=)
c.483C= (p.Gly161=)
n.376-345C=
n.468C=
n.374-345C=
c.50C=
c.342C= (p.Gly114=)
c.307C=
n.457C=
c.187C= (p.Arg63=)
c.250-345C= (n.250-345C=)
n.429C=
n.362C=
17g.80214673G>TCA502203108CARD14,SGSHn.2845-1193G>T
c.448C>A (p.Arg150=)
c.466C>A (p.Arg156=)
c.483C>A (p.Gly161=)
n.376-345C>A
n.468C>A
n.374-345C>A
c.50C>A
c.342C>A (p.Gly114=)
c.307C>A
n.457C>A
c.187C>A (p.Arg63=)
c.250-345C>A (n.250-345C>A)
n.429C>A
n.362C>A
17g.80214674C>ACA401362766CARD14,SGSHn.2845-1192C>A
c.447G>T (p.Gly149=)
c.465G>T (p.Gly155=)
c.482G>T (p.Gly161Val)
n.376-346G>T
n.467G>T
n.374-346G>T
c.49G>T
c.341G>T (p.Gly114Val)
c.306G>T
n.456G>T
c.186G>T (p.Gly62=)
c.250-346G>T (n.250-346G>T)
n.428G>T
n.361G>T
 gnomAD v4
17g.80214674C>GCA401362768CARD14,SGSHn.2845-1192C>G
c.447G>C (p.Gly149=)
c.465G>C (p.Gly155=)
c.482G>C (p.Gly161Ala)
n.376-346G>C
n.467G>C
n.374-346G>C
c.49G>C
c.341G>C (p.Gly114Ala)
c.306G>C
n.456G>C
c.186G>C (p.Gly62=)
c.250-346G>C (n.250-346G>C)
n.428G>C
n.361G>C
17g.80214674C>TCA401362770CARD14,SGSHn.2845-1192C>T
c.447G>A (p.Gly149=)
c.465G>A (p.Gly155=)
c.482G>A (p.Gly161Asp)
n.376-346G>A
n.467G>A
n.374-346G>A
c.49G>A
c.341G>A (p.Gly114Asp)
c.306G>A
n.456G>A
c.186G>A (p.Gly62=)
c.250-346G>A (n.250-346G>A)
n.428G>A
n.361G>A
 gnomAD v4
17g.80214675C>ACA8818014CARD14,SGSHn.2845-1191C>A
c.446G>T (p.Gly149Val)
c.464G>T (p.Gly155Val)
c.481G>T (p.Gly161Cys)
n.376-347G>T
n.466G>T
n.374-347G>T
c.48G>T
c.340G>T (p.Gly114Cys)
c.305G>T
n.455G>T
c.185G>T (p.Gly62Val)
c.250-347G>T (n.250-347G>T)
n.427G>T
n.360G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214675C=CA2277864346CARD14,SGSHn.2845-1191C=
c.446G= (p.Gly149=)
c.464G= (p.Gly155=)
c.481G= (p.Gly161=)
n.376-347G=
n.466G=
n.374-347G=
c.48G=
c.340G= (p.Gly114=)
c.305G=
n.455G=
c.185G= (p.Gly62=)
c.250-347G= (n.250-347G=)
n.427G=
n.360G=
17g.80214675C>GCA401362774CARD14,SGSHn.2845-1191C>G
c.446G>C (p.Gly149Ala)
c.464G>C (p.Gly155Ala)
c.481G>C (p.Gly161Arg)
n.376-347G>C
n.466G>C
n.374-347G>C
c.48G>C
c.340G>C (p.Gly114Arg)
c.305G>C
n.455G>C
c.185G>C (p.Gly62Ala)
c.250-347G>C (n.250-347G>C)
n.427G>C
n.360G>C
17g.80214675C>TCA401362773CARD14,SGSHn.2845-1191C>T
c.446G>A (p.Gly149Glu)
c.464G>A (p.Gly155Glu)
c.481G>A (p.Gly161Ser)
n.376-347G>A
n.466G>A
n.374-347G>A
c.48G>A
c.340G>A (p.Gly114Ser)
c.305G>A
n.455G>A
c.185G>A (p.Gly62Glu)
c.250-347G>A (n.250-347G>A)
n.427G>A
n.360G>A
17g.80214676C>ACA401362777CARD14,SGSHn.2845-1190C>A
c.445G>T (p.Gly149Trp)
c.463G>T (p.Gly155Trp)
c.480G>T (p.Trp160Cys)
n.376-348G>T
n.465G>T
n.374-348G>T
c.47G>T
c.339G>T (p.Trp113Cys)
c.304G>T
n.454G>T
c.184G>T (p.Gly62Trp)
c.250-348G>T (n.250-348G>T)
n.426G>T
n.359G>T
17g.80214676C>GCA401362778CARD14,SGSHn.2845-1190C>G
c.445G>C (p.Gly149Arg)
c.463G>C (p.Gly155Arg)
c.480G>C (p.Trp160Cys)
n.376-348G>C
n.465G>C
n.374-348G>C
c.47G>C
c.339G>C (p.Trp113Cys)
c.304G>C
n.454G>C
c.184G>C (p.Gly62Arg)
c.250-348G>C (n.250-348G>C)
n.426G>C
n.359G>C
17g.80214676C>TCA401362779CARD14,SGSHn.2845-1190C>T
c.445G>A (p.Gly149Arg)
c.463G>A (p.Gly155Arg)
c.480G>A (p.Trp160Ter)
n.376-348G>A
n.465G>A
n.374-348G>A
c.47G>A
c.339G>A (p.Trp113Ter)
c.304G>A
n.454G>A
c.184G>A (p.Gly62Arg)
c.250-348G>A (n.250-348G>A)
n.426G>A
n.359G>A
17g.80214677C>ACA401362780CARD14,SGSHn.2845-1189C>A
c.444G>T (p.Val148=)
c.462G>T (p.Val154=)
c.479G>T (p.Trp160Leu)
n.376-349G>T
n.464G>T
n.374-349G>T
c.46G>T
c.338G>T (p.Trp113Leu)
c.303G>T
n.453G>T
c.183G>T (p.Val61=)
c.250-349G>T (n.250-349G>T)
n.425G>T
n.358G>T
17g.80214677C=CA2277864347CARD14,SGSHn.2845-1189C=
c.444G= (p.Val148=)
c.462G= (p.Val154=)
c.479G= (p.Trp160=)
n.376-349G=
n.464G=
n.374-349G=
c.46G=
c.338G= (p.Trp113=)
c.303G=
n.453G=
c.183G= (p.Val61=)
c.250-349G= (n.250-349G=)
n.425G=
n.358G=
17g.80214677C>GCA401362782CARD14,SGSHn.2845-1189C>G
c.444G>C (p.Val148=)
c.462G>C (p.Val154=)
c.479G>C (p.Trp160Ser)
n.376-349G>C
n.464G>C
n.374-349G>C
c.46G>C
c.338G>C (p.Trp113Ser)
c.303G>C
n.453G>C
c.183G>C (p.Val61=)
c.250-349G>C (n.250-349G>C)
n.425G>C
n.358G>C
17g.80214677C>TCA401362784CARD14,SGSHn.2845-1189C>T
c.444G>A (p.Val148=)
c.462G>A (p.Val154=)
c.479G>A (p.Trp160Ter)
n.376-349G>A
n.464G>A
n.374-349G>A
c.46G>A
c.338G>A (p.Trp113Ter)
c.303G>A
n.453G>A
c.183G>A (p.Val61=)
c.250-349G>A (n.250-349G>A)
n.425G>A
n.358G>A
 dbSNP
17g.80214678A>CCA401362785CARD14,SGSHn.2845-1188A>C
c.443T>G (p.Val148Gly)
c.461T>G (p.Val154Gly)
c.478T>G (p.Trp160Gly)
n.376-350T>G
n.463T>G
n.374-350T>G
c.45T>G
c.337T>G (p.Trp113Gly)
c.302T>G
n.452T>G
c.182T>G (p.Val61Gly)
c.250-350T>G (n.250-350T>G)
n.424T>G
n.357T>G
17g.80214678A>GCA401362786CARD14,SGSHn.2845-1188A>G
c.443T>C (p.Val148Ala)
c.461T>C (p.Val154Ala)
c.478T>C (p.Trp160Arg)
n.376-350T>C
n.463T>C
n.374-350T>C
c.45T>C
c.337T>C (p.Trp113Arg)
c.302T>C
n.452T>C
c.182T>C (p.Val61Ala)
c.250-350T>C (n.250-350T>C)
n.424T>C
n.357T>C
17g.80214678A>TCA401362788CARD14,SGSHn.2845-1188A>T
c.443T>A (p.Val148Glu)
c.461T>A (p.Val154Glu)
c.478T>A (p.Trp160Arg)
n.376-350T>A
n.463T>A
n.374-350T>A
c.45T>A
c.337T>A (p.Trp113Arg)
c.302T>A
n.452T>A
c.182T>A (p.Val61Glu)
c.250-350T>A (n.250-350T>A)
n.424T>A
n.357T>A
17g.80214679C>ACA401362790CARD14,SGSHn.2845-1187C>A
c.442G>T (p.Val148Leu)
c.460G>T (p.Val154Leu)
c.477G>T (p.Arg159Ser)
n.376-351G>T
n.462G>T
n.374-351G>T
c.44G>T
c.336G>T (p.Arg112Ser)
c.301G>T
n.451G>T
c.181G>T (p.Val61Leu)
c.250-351G>T (n.250-351G>T)
n.423G>T
n.356G>T
17g.80214679C>GCA401362792CARD14,SGSHn.2845-1187C>G
c.442G>C (p.Val148Leu)
c.460G>C (p.Val154Leu)
c.477G>C (p.Arg159Ser)
n.376-351G>C
n.462G>C
n.374-351G>C
c.44G>C
c.336G>C (p.Arg112Ser)
c.301G>C
n.451G>C
c.181G>C (p.Val61Leu)
c.250-351G>C (n.250-351G>C)
n.423G>C
n.356G>C
17g.80214679C>TCA401362794CARD14,SGSHn.2845-1187C>T
c.442G>A (p.Val148Met)
c.460G>A (p.Val154Met)
c.477G>A (p.Arg159=)
n.376-351G>A
n.462G>A
n.374-351G>A
c.44G>A
c.336G>A (p.Arg112=)
c.301G>A
n.451G>A
c.181G>A (p.Val61Met)
c.250-351G>A (n.250-351G>A)
n.423G>A
n.356G>A
 gnomAD v4
17g.80214680C>ACA401362797CARD14,SGSHn.2845-1186C>A
c.441G>T (p.Gln147His)
c.459G>T (p.Gln153His)
c.476G>T (p.Arg159Met)
n.376-352G>T
n.461G>T
n.374-352G>T
c.43G>T
c.335G>T (p.Arg112Met)
c.301-1G>T
n.450G>T
c.180G>T (p.Gln60His)
c.250-352G>T (n.250-352G>T)
n.422G>T
n.355G>T
17g.80214680C>GCA401362798CARD14,SGSHn.2845-1186C>G
c.441G>C (p.Gln147His)
c.459G>C (p.Gln153His)
c.476G>C (p.Arg159Thr)
n.376-352G>C
n.461G>C
n.374-352G>C
c.43G>C
c.335G>C (p.Arg112Thr)
c.301-1G>C
n.450G>C
c.180G>C (p.Gln60His)
c.250-352G>C (n.250-352G>C)
n.422G>C
n.355G>C
17g.80214680C>TCA401362795CARD14,SGSHn.2845-1186C>T
c.441G>A (p.Gln147=)
c.459G>A (p.Gln153=)
c.476G>A (p.Arg159Lys)
n.376-352G>A
n.461G>A
n.374-352G>A
c.43G>A
c.335G>A (p.Arg112Lys)
c.301-1G>A
n.450G>A
c.180G>A (p.Gln60=)
c.250-352G>A (n.250-352G>A)
n.422G>A
n.355G>A
17g.80214681T>ACA401362800CARD14,SGSHn.2845-1185T>A
c.440A>T (p.Gln147Leu)
c.458A>T (p.Gln153Leu)
c.475A>T (p.Arg159Trp)
n.376-353A>T
n.460A>T
n.374-353A>T
c.42A>T
c.334A>T (p.Arg112Trp)
c.301-2A>T
n.449A>T
c.179A>T (p.Gln60Leu)
c.250-353A>T (n.250-353A>T)
n.421A>T
n.354A>T
17g.80214681T>CCA401362804CARD14,SGSHn.2845-1185T>C
c.440A>G (p.Gln147Arg)
c.458A>G (p.Gln153Arg)
c.475A>G (p.Arg159Gly)
n.376-353A>G
n.460A>G
n.374-353A>G
c.42A>G
c.334A>G (p.Arg112Gly)
c.301-2A>G
n.449A>G
c.179A>G (p.Gln60Arg)
c.250-353A>G (n.250-353A>G)
n.421A>G
n.354A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214681T>GCA401362802CARD14,SGSHn.2845-1185T>G
c.440A>C (p.Gln147Pro)
c.458A>C (p.Gln153Pro)
c.475A>C (p.Arg159=)
n.376-353A>C
n.460A>C
n.374-353A>C
c.42A>C
c.334A>C (p.Arg112=)
c.301-2A>C
n.449A>C
c.179A>C (p.Gln60Pro)
c.250-353A>C (n.250-353A>C)
n.421A>C
n.354A>C
17g.80214681T=CA2277864348CARD14,SGSHn.2845-1185T=
c.440A= (p.Gln147=)
c.458A= (p.Gln153=)
c.475A= (p.Arg159=)
n.376-353A=
n.460A=
n.374-353A=
c.42A=
c.334A= (p.Arg112=)
c.301-2A=
n.449A=
c.179A= (p.Gln60=)
c.250-353A= (n.250-353A=)
n.421A=
n.354A=
17g.80214682G>ACA401362806CARD14,SGSHn.2845-1184G>A
c.439C>T (p.Gln147Ter)
c.457C>T (p.Gln153Ter)
c.474C>T (p.Ser158=)
n.375+351C>T
n.459C>T
n.373+351C>T
c.41C>T
c.333C>T (p.Ser111=)
c.301-3C>T
n.448C>T
c.178C>T (p.Gln60Ter)
c.250-354C>T (n.250-354C>T)
n.420C>T
n.353C>T
17g.80214682G>CCA401362809CARD14,SGSHn.2845-1184G>C
c.439C>G (p.Gln147Glu)
c.457C>G (p.Gln153Glu)
c.474C>G (p.Ser158=)
n.375+351C>G
n.459C>G
n.373+351C>G
c.41C>G
c.333C>G (p.Ser111=)
c.301-3C>G
n.448C>G
c.178C>G (p.Gln60Glu)
c.250-354C>G (n.250-354C>G)
n.420C>G
n.353C>G
17g.80214682G>TCA401362808CARD14,SGSHn.2845-1184G>T
c.439C>A (p.Gln147Lys)
c.457C>A (p.Gln153Lys)
c.474C>A (p.Ser158=)
n.375+351C>A
n.459C>A
n.373+351C>A
c.41C>A
c.333C>A (p.Ser111=)
c.301-3C>A
n.448C>A
c.178C>A (p.Gln60Lys)
c.250-354C>A (n.250-354C>A)
n.420C>A
n.353C>A
17g.80214683G>ACA401362811CARD14,SGSHn.2845-1183G>A
c.438C>T (p.Leu146=)
c.456C>T (p.Leu152=)
c.473C>T (p.Ser158Phe)
n.375+350C>T
n.458C>T
n.373+350C>T
c.40C>T
c.332C>T (p.Ser111Phe)
c.301-4C>T
n.447C>T
c.177C>T (p.Leu59=)
c.250-355C>T (n.250-355C>T)
n.419C>T
n.352C>T
17g.80214683G>CCA401362813CARD14,SGSHn.2845-1183G>C
c.438C>G (p.Leu146=)
c.456C>G (p.Leu152=)
c.473C>G (p.Ser158Cys)
n.375+350C>G
n.458C>G
n.373+350C>G
c.40C>G
c.332C>G (p.Ser111Cys)
c.301-4C>G
n.447C>G
c.177C>G (p.Leu59=)
c.250-355C>G (n.250-355C>G)
n.419C>G
n.352C>G
 COSMIC
17g.80214683G>TCA401362814CARD14,SGSHn.2845-1183G>T
c.438C>A (p.Leu146=)
c.456C>A (p.Leu152=)
c.473C>A (p.Ser158Tyr)
n.375+350C>A
n.458C>A
n.373+350C>A
c.40C>A
c.332C>A (p.Ser111Tyr)
c.301-4C>A
n.447C>A
c.177C>A (p.Leu59=)
c.250-355C>A (n.250-355C>A)
n.419C>A
n.352C>A
17g.80214684A=CA2277864349CARD14,SGSHn.2845-1182A=
c.437T= (p.Leu146=)
c.455T= (p.Leu152=)
c.472T= (p.Ser158=)
n.375+349T=
n.457T=
n.373+349T=
c.39T=
c.331T= (p.Ser111=)
c.301-5T=
n.446T=
c.176T= (p.Leu59=)
c.250-356T= (n.250-356T=)
n.418T=
n.351T=
17g.80214684A>CCA401362816CARD14,SGSHn.2845-1182A>C
c.437T>G (p.Leu146Arg)
c.455T>G (p.Leu152Arg)
c.472T>G (p.Ser158Ala)
n.375+349T>G
n.457T>G
n.373+349T>G
c.39T>G
c.331T>G (p.Ser111Ala)
c.301-5T>G
n.446T>G
c.176T>G (p.Leu59Arg)
c.250-356T>G (n.250-356T>G)
n.418T>G
n.351T>G
17g.80214684A>GCA8818015CARD14,SGSHn.2845-1182A>G
c.437T>C (p.Leu146Pro)
c.455T>C (p.Leu152Pro)
c.472T>C (p.Ser158Pro)
n.375+349T>C
n.457T>C
n.373+349T>C
c.39T>C
c.331T>C (p.Ser111Pro)
c.301-5T>C
n.446T>C
c.176T>C (p.Leu59Pro)
c.250-356T>C (n.250-356T>C)
n.418T>C
n.351T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214684A>TCA401362818CARD14,SGSHn.2845-1182A>T
c.437T>A (p.Leu146His)
c.455T>A (p.Leu152His)
c.472T>A (p.Ser158Thr)
n.375+349T>A
n.457T>A
n.373+349T>A
c.39T>A
c.331T>A (p.Ser111Thr)
c.301-5T>A
n.446T>A
c.176T>A (p.Leu59His)
c.250-356T>A (n.250-356T>A)
n.418T>A
n.351T>A
17g.80214685G>ACA401362820CARD14,SGSHn.2845-1181G>A
c.436C>T (p.Leu146Phe)
c.454C>T (p.Leu152Phe)
c.471C>T (p.Ser157=)
n.375+348C>T
n.456C>T
n.373+348C>T
c.38C>T
c.330C>T (p.Ser110=)
c.301-6C>T
n.445C>T
c.175C>T (p.Leu59Phe)
c.250-357C>T (n.250-357C>T)
n.417C>T
n.350C>T
17g.80214685G>CCA401362821CARD14,SGSHn.2845-1181G>C
c.436C>G (p.Leu146Val)
c.454C>G (p.Leu152Val)
c.471C>G (p.Ser157=)
n.375+348C>G
n.456C>G
n.373+348C>G
c.38C>G
c.330C>G (p.Ser110=)
c.301-6C>G
n.445C>G
c.175C>G (p.Leu59Val)
c.250-357C>G (n.250-357C>G)
n.417C>G
n.350C>G
 gnomAD v4
17g.80214685G>TCA401362823CARD14,SGSHn.2845-1181G>T
c.436C>A (p.Leu146Ile)
c.454C>A (p.Leu152Ile)
c.471C>A (p.Ser157=)
n.375+348C>A
n.456C>A
n.373+348C>A
c.38C>A
c.330C>A (p.Ser110=)
c.301-6C>A
n.445C>A
c.175C>A (p.Leu59Ile)
c.250-357C>A (n.250-357C>A)
n.417C>A
n.350C>A
17g.80214686G>ACA401362825CARD14,SGSHn.2845-1180G>A
c.435C>T (p.Val145=)
c.453C>T (p.Val151=)
c.470C>T (p.Ser157Phe)
n.375+347C>T
n.455C>T
n.373+347C>T
c.37C>T
c.329C>T (p.Ser110Phe)
c.301-7C>T
n.444C>T
c.174C>T (p.Val58=)
c.250-358C>T (n.250-358C>T)
n.416C>T
n.349C>T
 ClinVar dbSNP
17g.80214686G>CCA401362826CARD14,SGSHn.2845-1180G>C
c.435C>G (p.Val145=)
c.453C>G (p.Val151=)
c.470C>G (p.Ser157Cys)
n.375+347C>G
n.455C>G
n.373+347C>G
c.37C>G
c.329C>G (p.Ser110Cys)
c.301-7C>G
n.444C>G
c.174C>G (p.Val58=)
c.250-358C>G (n.250-358C>G)
n.416C>G
n.349C>G
17g.80214686G>TCA401362828CARD14,SGSHn.2845-1180G>T
c.435C>A (p.Val145=)
c.453C>A (p.Val151=)
c.470C>A (p.Ser157Tyr)
n.375+347C>A
n.455C>A
n.373+347C>A
c.37C>A
c.329C>A (p.Ser110Tyr)
c.301-7C>A
n.444C>A
c.174C>A (p.Val58=)
c.250-358C>A (n.250-358C>A)
n.416C>A
n.349C>A
 ClinVar
17g.80214687A>CCA401362830CARD14,SGSHn.2845-1179A>C
c.434T>G (p.Val145Gly)
c.452T>G (p.Val151Gly)
c.469T>G (p.Ser157Ala)
n.375+346T>G
n.454T>G
n.373+346T>G
c.36T>G
c.328T>G (p.Ser110Ala)
c.301-8T>G
n.443T>G
c.173T>G (p.Val58Gly)
c.250-359T>G (n.250-359T>G)
n.415T>G
n.348T>G
17g.80214687A>GCA401362833CARD14,SGSHn.2845-1179A>G
c.434T>C (p.Val145Ala)
c.452T>C (p.Val151Ala)
c.469T>C (p.Ser157Pro)
n.375+346T>C
n.454T>C
n.373+346T>C
c.36T>C
c.328T>C (p.Ser110Pro)
c.301-8T>C
n.443T>C
c.173T>C (p.Val58Ala)
c.250-359T>C (n.250-359T>C)
n.415T>C
n.348T>C
17g.80214687A>TCA401362831CARD14,SGSHn.2845-1179A>T
c.434T>A (p.Val145Asp)
c.452T>A (p.Val151Asp)
c.469T>A (p.Ser157Thr)
n.375+346T>A
n.454T>A
n.373+346T>A
c.36T>A
c.328T>A (p.Ser110Thr)
c.301-8T>A
n.443T>A
c.173T>A (p.Val58Asp)
c.250-359T>A (n.250-359T>A)
n.415T>A
n.348T>A
17g.80214688C>ACA401362836CARD14,SGSHn.2845-1178C>A
c.433G>T (p.Val145Phe)
c.451G>T (p.Val151Phe)
c.468G>T (p.Pro156=)
n.375+345G>T
n.453G>T
n.373+345G>T
c.35G>T
c.327G>T (p.Pro109=)
c.301-9G>T
n.442G>T
c.172G>T (p.Val58Phe)
c.250-360G>T (n.250-360G>T)
n.414G>T
n.347G>T
 dbSNP gnomAD v2 gnomAD v4
17g.80214688C=CA2277864350CARD14,SGSHn.2845-1178C=
c.433G= (p.Val145=)
c.451G= (p.Val151=)
c.468G= (p.Pro156=)
n.375+345G=
n.453G=
n.373+345G=
c.35G=
c.327G= (p.Pro109=)
c.301-9G=
n.442G=
c.172G= (p.Val58=)
c.250-360G= (n.250-360G=)
n.414G=
n.347G=
17g.80214688C>GCA401362838CARD14,SGSHn.2845-1178C>G
c.433G>C (p.Val145Leu)
c.451G>C (p.Val151Leu)
c.468G>C (p.Pro156=)
n.375+345G>C
n.453G>C
n.373+345G>C
c.35G>C
c.327G>C (p.Pro109=)
c.301-9G>C
n.442G>C
c.172G>C (p.Val58Leu)
c.250-360G>C (n.250-360G>C)
n.414G>C
n.347G>C
17g.80214688C>TCA8818016CARD14,SGSHn.2845-1178C>T
c.433G>A (p.Val145Ile)
c.451G>A (p.Val151Ile)
c.468G>A (p.Pro156=)
n.375+345G>A
n.453G>A
n.373+345G>A
c.35G>A
c.327G>A (p.Pro109=)
c.301-9G>A
n.442G>A
c.172G>A (p.Val58Ile)
c.250-360G>A (n.250-360G>A)
n.414G>A
n.347G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214689G>ACA8818017CARD14,SGSHn.2845-1177G>A
c.432C>T (p.Ser144=)
c.450C>T (p.Ser150=)
c.467C>T (p.Pro156Leu)
n.375+344C>T
n.452C>T
n.373+344C>T
c.34C>T
c.326C>T (p.Pro109Leu)
c.301-10C>T
n.441C>T
c.171C>T (p.Ser57=)
c.250-361C>T (n.250-361C>T)
n.413C>T
n.346C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214689G>CCA401362842CARD14,SGSHn.2845-1177G>C
c.432C>G (p.Ser144=)
c.450C>G (p.Ser150=)
c.467C>G (p.Pro156Arg)
n.375+344C>G
n.452C>G
n.373+344C>G
c.34C>G
c.326C>G (p.Pro109Arg)
c.301-10C>G
n.441C>G
c.171C>G (p.Ser57=)
c.250-361C>G (n.250-361C>G)
n.413C>G
n.346C>G
17g.80214689G=CA2277864351CARD14,SGSHn.2845-1177G=
c.432C= (p.Ser144=)
c.450C= (p.Ser150=)
c.467C= (p.Pro156=)
n.375+344C=
n.452C=
n.373+344C=
c.34C=
c.326C= (p.Pro109=)
c.301-10C=
n.441C=
c.171C= (p.Ser57=)
c.250-361C= (n.250-361C=)
n.413C=
n.346C=
17g.80214689G>TCA401362844CARD14,SGSHn.2845-1177G>T
c.432C>A (p.Ser144=)
c.450C>A (p.Ser150=)
c.467C>A (p.Pro156Gln)
n.375+344C>A
n.452C>A
n.373+344C>A
c.34C>A
c.326C>A (p.Pro109Gln)
c.301-10C>A
n.441C>A
c.171C>A (p.Ser57=)
c.250-361C>A (n.250-361C>A)
n.413C>A
n.346C>A
17g.80214690G>ACA8818018CARD14,SGSHn.2845-1176G>A
c.431C>T (p.Ser144Phe)
c.449C>T (p.Ser150Phe)
c.466C>T (p.Pro156Ser)
n.375+343C>T
n.451C>T
n.373+343C>T
c.33C>T
c.325C>T (p.Pro109Ser)
c.301-11C>T
n.440C>T
c.170C>T (p.Ser57Phe)
c.250-362C>T (n.250-362C>T)
n.412C>T
n.345C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214690G>CCA401362847CARD14,SGSHn.2845-1176G>C
c.431C>G (p.Ser144Cys)
c.449C>G (p.Ser150Cys)
c.466C>G (p.Pro156Ala)
n.375+343C>G
n.451C>G
n.373+343C>G
c.33C>G
c.325C>G (p.Pro109Ala)
c.301-11C>G
n.440C>G
c.170C>G (p.Ser57Cys)
c.250-362C>G (n.250-362C>G)
n.412C>G
n.345C>G
17g.80214690G=CA2277864352CARD14,SGSHn.2845-1176G=
c.431C= (p.Ser144=)
c.449C= (p.Ser150=)
c.466C= (p.Pro156=)
n.375+343C=
n.451C=
n.373+343C=
c.33C=
c.325C= (p.Pro109=)
c.301-11C=
n.440C=
c.170C= (p.Ser57=)
c.250-362C= (n.250-362C=)
n.412C=
n.345C=
17g.80214690G>TCA401362849CARD14,SGSHn.2845-1176G>T
c.431C>A (p.Ser144Tyr)
c.449C>A (p.Ser150Tyr)
c.466C>A (p.Pro156Thr)
n.375+343C>A
n.451C>A
n.373+343C>A
c.33C>A
c.325C>A (p.Pro109Thr)
c.301-11C>A
n.440C>A
c.170C>A (p.Ser57Tyr)
c.250-362C>A (n.250-362C>A)
n.412C>A
n.345C>A
17g.80214691A=CA2277864353CARD14,SGSHn.2845-1175A=
c.430T= (p.Ser144=)
c.448T= (p.Ser150=)
c.465T= (p.Ala155=)
n.375+342T=
n.450T=
n.373+342T=
c.32T=
c.324T= (p.Ala108=)
c.301-12T=
n.439T=
c.169T= (p.Ser57=)
c.250-363T= (n.250-363T=)
n.411T=
n.344T=
17g.80214691A>CCA401362855CARD14,SGSHn.2845-1175A>C
c.430T>G (p.Ser144Ala)
c.448T>G (p.Ser150Ala)
c.465T>G (p.Ala155=)
n.375+342T>G
n.450T>G
n.373+342T>G
c.32T>G
c.324T>G (p.Ala108=)
c.301-12T>G
n.439T>G
c.169T>G (p.Ser57Ala)
c.250-363T>G (n.250-363T>G)
n.411T>G
n.344T>G
 dbSNP gnomAD v3 gnomAD v4
17g.80214691A>GCA401362853CARD14,SGSHn.2845-1175A>G
c.430T>C (p.Ser144Pro)
c.448T>C (p.Ser150Pro)
c.465T>C (p.Ala155=)
n.375+342T>C
n.450T>C
n.373+342T>C
c.32T>C
c.324T>C (p.Ala108=)
c.301-12T>C
n.439T>C
c.169T>C (p.Ser57Pro)
c.250-363T>C (n.250-363T>C)
n.411T>C
n.344T>C
17g.80214691A>TCA401362851CARD14,SGSHn.2845-1175A>T
c.430T>A (p.Ser144Thr)
c.448T>A (p.Ser150Thr)
c.465T>A (p.Ala155=)
n.375+342T>A
n.450T>A
n.373+342T>A
c.32T>A
c.324T>A (p.Ala108=)
c.301-12T>A
n.439T>A
c.169T>A (p.Ser57Thr)
c.250-363T>A (n.250-363T>A)
n.411T>A
n.344T>A
 ClinVar
17g.80214692G>ACA401362856CARD14,SGSHn.2845-1174G>A
c.429C>T (p.Gly143=)
c.447C>T (p.Gly149=)
c.464C>T (p.Ala155Val)
n.375+341C>T
n.449C>T
n.373+341C>T
c.31C>T
c.323C>T (p.Ala108Val)
c.301-13C>T
n.438C>T
c.168C>T (p.Gly56=)
c.250-364C>T (n.250-364C>T)
n.410C>T
n.343C>T
 dbSNP
17g.80214692G>CCA401362858CARD14,SGSHn.2845-1174G>C
c.429C>G (p.Gly143=)
c.447C>G (p.Gly149=)
c.464C>G (p.Ala155Gly)
n.375+341C>G
n.449C>G
n.373+341C>G
c.31C>G
c.323C>G (p.Ala108Gly)
c.301-13C>G
n.438C>G
c.168C>G (p.Gly56=)
c.250-364C>G (n.250-364C>G)
n.410C>G
n.343C>G
17g.80214692G=CA2277864354CARD14,SGSHn.2845-1174G=
c.429C= (p.Gly143=)
c.447C= (p.Gly149=)
c.464C= (p.Ala155=)
n.375+341C=
n.449C=
n.373+341C=
c.31C=
c.323C= (p.Ala108=)
c.301-13C=
n.438C=
c.168C= (p.Gly56=)
c.250-364C= (n.250-364C=)
n.410C=
n.343C=
17g.80214692G>TCA401362860CARD14,SGSHn.2845-1174G>T
c.429C>A (p.Gly143=)
c.447C>A (p.Gly149=)
c.464C>A (p.Ala155Asp)
n.375+341C>A
n.449C>A
n.373+341C>A
c.31C>A
c.323C>A (p.Ala108Asp)
c.301-13C>A
n.438C>A
c.168C>A (p.Gly56=)
c.250-364C>A (n.250-364C>A)
n.410C>A
n.343C>A
17g.80214693C>ACA401362862CARD14,SGSHn.2845-1173C>A
c.428G>T (p.Gly143Val)
c.446G>T (p.Gly149Val)
c.463G>T (p.Ala155Ser)
n.375+340G>T
n.448G>T
n.373+340G>T
c.30G>T
c.322G>T (p.Ala108Ser)
c.301-14G>T
n.437G>T
c.167G>T (p.Gly56Val)
c.250-365G>T (n.250-365G>T)
n.409G>T
n.342G>T
 gnomAD v4
17g.80214693C=CA2277864355CARD14,SGSHn.2845-1173C=
c.428G= (p.Gly143=)
c.446G= (p.Gly149=)
c.463G= (p.Ala155=)
n.375+340G=
n.448G=
n.373+340G=
c.30G=
c.322G= (p.Ala108=)
c.301-14G=
n.437G=
c.167G= (p.Gly56=)
c.250-365G= (n.250-365G=)
n.409G=
n.342G=
17g.80214693C>GCA401362863CARD14,SGSHn.2845-1173C>G
c.428G>C (p.Gly143Ala)
c.446G>C (p.Gly149Ala)
c.463G>C (p.Ala155Pro)
n.375+340G>C
n.448G>C
n.373+340G>C
c.30G>C
c.322G>C (p.Ala108Pro)
c.301-14G>C
n.437G>C
c.167G>C (p.Gly56Ala)
c.250-365G>C (n.250-365G>C)
n.409G>C
n.342G>C
 dbSNP
17g.80214693C>TCA401362865CARD14,SGSHn.2845-1173C>T
c.428G>A (p.Gly143Asp)
c.446G>A (p.Gly149Asp)
c.463G>A (p.Ala155Thr)
n.375+340G>A
n.448G>A
n.373+340G>A
c.30G>A
c.322G>A (p.Ala108Thr)
c.301-14G>A
n.437G>A
c.167G>A (p.Gly56Asp)
c.250-365G>A (n.250-365G>A)
n.409G>A
n.342G>A
17g.80214694C>ACA401362868CARD14,SGSHn.2845-1172C>A
c.427G>T (p.Gly143Cys)
c.445G>T (p.Gly149Cys)
c.462G>T (p.Met154Ile)
n.375+339G>T
n.447G>T
n.373+339G>T
c.29G>T
c.321G>T (p.Met107Ile)
c.301-15G>T
n.436G>T
c.166G>T (p.Gly56Cys)
c.250-366G>T (n.250-366G>T)
n.408G>T
n.341G>T
17g.80214694C>GCA401362869CARD14,SGSHn.2845-1172C>G
c.427G>C (p.Gly143Arg)
c.445G>C (p.Gly149Arg)
c.462G>C (p.Met154Ile)
n.375+339G>C
n.447G>C
n.373+339G>C
c.29G>C
c.321G>C (p.Met107Ile)
c.301-15G>C
n.436G>C
c.166G>C (p.Gly56Arg)
c.250-366G>C (n.250-366G>C)
n.408G>C
n.341G>C
17g.80214694C>TCA401362871CARD14,SGSHn.2845-1172C>T
c.427G>A (p.Gly143Ser)
c.445G>A (p.Gly149Ser)
c.462G>A (p.Met154Ile)
n.375+339G>A
n.447G>A
n.373+339G>A
c.29G>A
c.321G>A (p.Met107Ile)
c.301-15G>A
n.436G>A
c.166G>A (p.Gly56Ser)
c.250-366G>A (n.250-366G>A)
n.408G>A
n.341G>A
17g.80214695A=CA2277864356CARD14,SGSHn.2845-1171A=
c.426T= (p.Asn142=)
c.444T= (p.Asn148=)
c.461T= (p.Met154=)
n.375+338T=
n.446T=
n.373+338T=
c.28T=
c.320T= (p.Met107=)
c.301-16T=
n.435T=
c.165T= (p.Asn55=)
c.250-367T= (n.250-367T=)
n.407T=
n.340T=
17g.80214695A>CCA401362873CARD14,SGSHn.2845-1171A>C
c.426T>G (p.Asn142Lys)
c.444T>G (p.Asn148Lys)
c.461T>G (p.Met154Arg)
n.375+338T>G
n.446T>G
n.373+338T>G
c.28T>G
c.320T>G (p.Met107Arg)
c.301-16T>G
n.435T>G
c.165T>G (p.Asn55Lys)
c.250-367T>G (n.250-367T>G)
n.407T>G
n.340T>G
17g.80214695A>GCA401362875CARD14,SGSHn.2845-1171A>G
c.426T>C (p.Asn142=)
c.444T>C (p.Asn148=)
c.461T>C (p.Met154Thr)
n.375+338T>C
n.446T>C
n.373+338T>C
c.28T>C
c.320T>C (p.Met107Thr)
c.301-16T>C
n.435T>C
c.165T>C (p.Asn55=)
c.250-367T>C (n.250-367T>C)
n.407T>C
n.340T>C
17g.80214695A>TCA401362876CARD14,SGSHn.2845-1171A>T
c.426T>A (p.Asn142Lys)
c.444T>A (p.Asn148Lys)
c.461T>A (p.Met154Lys)
n.375+338T>A
n.446T>A
n.373+338T>A
c.28T>A
c.320T>A (p.Met107Lys)
c.301-16T>A
n.435T>A
c.165T>A (p.Asn55Lys)
c.250-367T>A (n.250-367T>A)
n.407T>A
n.340T>A
 dbSNP
17g.80214696T>ACA401362884CARD14,SGSHn.2845-1170T>A
c.425A>T (p.Asn142Ile)
c.443A>T (p.Asn148Ile)
c.460A>T (p.Met154Leu)
n.375+337A>T
n.445A>T
n.373+337A>T
c.27A>T
c.319A>T (p.Met107Leu)
c.301-17A>T
n.434A>T
c.164A>T (p.Asn55Ile)
c.250-368A>T (n.250-368A>T)
n.406A>T
n.339A>T
17g.80214696T>CCA401362879CARD14,SGSHn.2845-1170T>C
c.425A>G (p.Asn142Ser)
c.443A>G (p.Asn148Ser)
c.460A>G (p.Met154Val)
n.375+337A>G
n.445A>G
n.373+337A>G
c.27A>G
c.319A>G (p.Met107Val)
c.301-17A>G
n.434A>G
c.164A>G (p.Asn55Ser)
c.250-368A>G (n.250-368A>G)
n.406A>G
n.339A>G
17g.80214696T>GCA401362882CARD14,SGSHn.2845-1170T>G
c.425A>C (p.Asn142Thr)
c.443A>C (p.Asn148Thr)
c.460A>C (p.Met154Leu)
n.375+337A>C
n.445A>C
n.373+337A>C
c.27A>C
c.319A>C (p.Met107Leu)
c.301-17A>C
n.434A>C
c.164A>C (p.Asn55Thr)
c.250-368A>C (n.250-368A>C)
n.406A>C
n.339A>C
17g.80214697T>ACA401362886CARD14,SGSHn.2845-1169T>A
c.424A>T (p.Asn142Tyr)
c.442A>T (p.Asn148Tyr)
c.459A>T (p.Arg153Ser)
n.375+336A>T
n.444A>T
n.373+336A>T
c.26A>T
c.318A>T (p.Arg106Ser)
c.301-18A>T
n.433A>T
c.163A>T (p.Asn55Tyr)
c.250-369A>T (n.250-369A>T)
n.405A>T
n.338A>T
17g.80214697T>CCA401362888CARD14,SGSHn.2845-1169T>C
c.424A>G (p.Asn142Asp)
c.442A>G (p.Asn148Asp)
c.459A>G (p.Arg153=)
n.375+336A>G
n.444A>G
n.373+336A>G
c.26A>G
c.318A>G (p.Arg106=)
c.301-18A>G
n.433A>G
c.163A>G (p.Asn55Asp)
c.250-369A>G (n.250-369A>G)
n.405A>G
n.338A>G
17g.80214697T>GCA401362890CARD14,SGSHn.2845-1169T>G
c.424A>C (p.Asn142His)
c.442A>C (p.Asn148His)
c.459A>C (p.Arg153Ser)
n.375+336A>C
n.444A>C
n.373+336A>C
c.26A>C
c.318A>C (p.Arg106Ser)
c.301-18A>C
n.433A>C
c.163A>C (p.Asn55His)
c.250-369A>C (n.250-369A>C)
n.405A>C
n.338A>C
17g.80214697_80214700delinsTCTCCA2277864357CARD14,SGSHn.2845-1169_2845-1166delinsTCTC
c.421_424delinsGAGA (p.Glu141=)
c.439_442delinsGAGA (p.Glu147=)
c.456_459delinsGAGA (p.Arg152=)
n.375+333_375+336delinsGAGA
n.441_444delinsGAGA
n.373+333_373+336delinsGAGA
c.23_26delinsGAGA
c.315_318delinsGAGA (p.Arg105=)
c.301-21_301-18delinsGAGA
n.430_433delinsGAGA
c.160_163delinsGAGA (p.Glu54=)
c.250-372_250-369delinsGAGA (n.250-372_250-369delinsGAGA)
n.402_405delinsGAGA
n.335_338delinsGAGA
17g.80214698C>ACA401362892CARD14,SGSHn.2845-1168C>A
c.423G>T (p.Glu141Asp)
c.441G>T (p.Glu147Asp)
c.458G>T (p.Arg153Ile)
n.375+335G>T
n.443G>T
n.373+335G>T
c.25G>T
c.317G>T (p.Arg106Ile)
c.301-19G>T
n.432G>T
c.162G>T (p.Glu54Asp)
c.250-370G>T (n.250-370G>T)
n.404G>T
n.337G>T
17g.80214698C=CA2277864359CARD14,SGSHn.2845-1168C=
c.423G= (p.Glu141=)
c.441G= (p.Glu147=)
c.458G= (p.Arg153=)
n.375+335G=
n.443G=
n.373+335G=
c.25G=
c.317G= (p.Arg106=)
c.301-19G=
n.432G=
c.162G= (p.Glu54=)
c.250-370G= (n.250-370G=)
n.404G=
n.337G=
17g.80214698C>GCA294897845CARD14,SGSHn.2845-1168C>G
c.423G>C (p.Glu141Asp)
c.441G>C (p.Glu147Asp)
c.458G>C (p.Arg153Thr)
n.375+335G>C
n.443G>C
n.373+335G>C
c.25G>C
c.317G>C (p.Arg106Thr)
c.301-19G>C
n.432G>C
c.162G>C (p.Glu54Asp)
c.250-370G>C (n.250-370G>C)
n.404G>C
n.337G>C
 dbSNP
17g.80214698C>TCA401362895CARD14,SGSHn.2845-1168C>T
c.423G>A (p.Glu141=)
c.441G>A (p.Glu147=)
c.458G>A (p.Arg153Lys)
n.375+335G>A
n.443G>A
n.373+335G>A
c.25G>A
c.317G>A (p.Arg106Lys)
c.301-19G>A
n.432G>A
c.162G>A (p.Glu54=)
c.250-370G>A (n.250-370G>A)
n.404G>A
n.337G>A
17g.80214702_80214704delCA2277864358CARD14,SGSHn.2845-1164_2845-1162del
c.421_423del (p.Glu141del)
c.439_441del (p.Glu147del)
c.456_458del (p.Arg153del)
n.375+333_375+335del
n.441_443del
n.373+333_373+335del
c.23_25del
c.315_317del (p.Arg106del)
c.301-21_301-19del
n.430_432del
c.160_162del (p.Glu54del)
c.250-372_250-370del (n.250-372_250-370del)
n.402_404del
n.335_337del
 dbSNP gnomAD v4
17g.80214699T>ACA401362897CARD14,SGSHn.2845-1167T>A
c.422A>T (p.Glu141Val)
c.440A>T (p.Glu147Val)
c.457A>T (p.Arg153Ter)
n.375+334A>T
n.442A>T
n.373+334A>T
c.24A>T
c.316A>T (p.Arg106Ter)
c.301-20A>T
n.431A>T
c.161A>T (p.Glu54Val)
c.250-371A>T (n.250-371A>T)
n.403A>T
n.336A>T
17g.80214699T>CCA401362899CARD14,SGSHn.2845-1167T>C
c.422A>G (p.Glu141Gly)
c.440A>G (p.Glu147Gly)
c.457A>G (p.Arg153Gly)
n.375+334A>G
n.442A>G
n.373+334A>G
c.24A>G
c.316A>G (p.Arg106Gly)
c.301-20A>G
n.431A>G
c.161A>G (p.Glu54Gly)
c.250-371A>G (n.250-371A>G)
n.403A>G
n.336A>G
17g.80214699T>GCA401362901CARD14,SGSHn.2845-1167T>G
c.422A>C (p.Glu141Ala)
c.440A>C (p.Glu147Ala)
c.457A>C (p.Arg153=)
n.375+334A>C
n.442A>C
n.373+334A>C
c.24A>C
c.316A>C (p.Arg106=)
c.301-20A>C
n.431A>C
c.161A>C (p.Glu54Ala)
c.250-371A>C (n.250-371A>C)
n.403A>C
n.336A>C
17g.80214700C>ACA401362903CARD14,SGSHn.2845-1166C>A
c.421G>T (p.Glu141Ter)
c.439G>T (p.Glu147Ter)
c.456G>T (p.Arg152Ser)
n.375+333G>T
n.441G>T
n.373+333G>T
c.23G>T
c.315G>T (p.Arg105Ser)
c.301-21G>T
n.430G>T
c.160G>T (p.Glu54Ter)
c.250-372G>T (n.250-372G>T)
n.402G>T
n.335G>T
17g.80214700C>GCA401362904CARD14,SGSHn.2845-1166C>G
c.421G>C (p.Glu141Gln)
c.439G>C (p.Glu147Gln)
c.456G>C (p.Arg152Ser)
n.375+333G>C
n.441G>C
n.373+333G>C
c.23G>C
c.315G>C (p.Arg105Ser)
c.301-21G>C
n.430G>C
c.160G>C (p.Glu54Gln)
c.250-372G>C (n.250-372G>C)
n.402G>C
n.335G>C
17g.80214700C>TCA401362906CARD14,SGSHn.2845-1166C>T
c.421G>A (p.Glu141Lys)
c.439G>A (p.Glu147Lys)
c.456G>A (p.Arg152=)
n.375+333G>A
n.441G>A
n.373+333G>A
c.23G>A
c.315G>A (p.Arg105=)
c.301-21G>A
n.430G>A
c.160G>A (p.Glu54Lys)
c.250-372G>A (n.250-372G>A)
n.402G>A
n.335G>A
17g.80214701C>ACA401362910CARD14,SGSHn.2845-1165C>A
c.420G>T (p.Glu140Asp)
c.438G>T (p.Glu146Asp)
c.455G>T (p.Arg152Met)
n.375+332G>T
n.440G>T
n.373+332G>T
c.22G>T
c.314G>T (p.Arg105Met)
c.301-22G>T
n.429G>T
c.159G>T (p.Glu53Asp)
c.250-373G>T (n.250-373G>T)
n.401G>T
n.334G>T
17g.80214701C>GCA401362912CARD14,SGSHn.2845-1165C>G
c.420G>C (p.Glu140Asp)
c.438G>C (p.Glu146Asp)
c.455G>C (p.Arg152Thr)
n.375+332G>C
n.440G>C
n.373+332G>C
c.22G>C
c.314G>C (p.Arg105Thr)
c.301-22G>C
n.429G>C
c.159G>C (p.Glu53Asp)
c.250-373G>C (n.250-373G>C)
n.401G>C
n.334G>C
17g.80214701C>TCA401362908CARD14,SGSHn.2845-1165C>T
c.420G>A (p.Glu140=)
c.438G>A (p.Glu146=)
c.455G>A (p.Arg152Lys)
n.375+332G>A
n.440G>A
n.373+332G>A
c.22G>A
c.314G>A (p.Arg105Lys)
c.301-22G>A
n.429G>A
c.159G>A (p.Glu53=)
c.250-373G>A (n.250-373G>A)
n.401G>A
n.334G>A
 gnomAD v4
17g.80214702T>ACA401362915CARD14,SGSHn.2845-1164T>A
c.419A>T (p.Glu140Val)
c.437A>T (p.Glu146Val)
c.454A>T (p.Arg152Trp)
n.375+331A>T
n.439A>T
n.373+331A>T
c.21A>T
c.313A>T (p.Arg105Trp)
c.301-23A>T
n.428A>T
c.158A>T (p.Glu53Val)
c.250-374A>T (n.250-374A>T)
n.400A>T
n.333A>T
17g.80214702T>CCA401362916CARD14,SGSHn.2845-1164T>C
c.419A>G (p.Glu140Gly)
c.437A>G (p.Glu146Gly)
c.454A>G (p.Arg152Gly)
n.375+331A>G
n.439A>G
n.373+331A>G
c.21A>G
c.313A>G (p.Arg105Gly)
c.301-23A>G
n.428A>G
c.158A>G (p.Glu53Gly)
c.250-374A>G (n.250-374A>G)
n.400A>G
n.333A>G
 dbSNP gnomAD v3 gnomAD v4
17g.80214702T>GCA401362918CARD14,SGSHn.2845-1164T>G
c.419A>C (p.Glu140Ala)
c.437A>C (p.Glu146Ala)
c.454A>C (p.Arg152=)
n.375+331A>C
n.439A>C
n.373+331A>C
c.21A>C
c.313A>C (p.Arg105=)
c.301-23A>C
n.428A>C
c.158A>C (p.Glu53Ala)
c.250-374A>C (n.250-374A>C)
n.400A>C
n.333A>C
17g.80214702T=CA2277864360CARD14,SGSHn.2845-1164T=
c.419A= (p.Glu140=)
c.437A= (p.Glu146=)
c.454A= (p.Arg152=)
n.375+331A=
n.439A=
n.373+331A=
c.21A=
c.313A= (p.Arg105=)
c.301-23A=
n.428A=
c.158A= (p.Glu53=)
c.250-374A= (n.250-374A=)
n.400A=
n.333A=
17g.80214703C>ACA401362920CARD14,SGSHn.2845-1163C>A
c.418G>T (p.Glu140Ter)
c.436G>T (p.Glu146Ter)
c.453G>T (p.Arg151=)
n.375+330G>T
n.438G>T
n.373+330G>T
c.20G>T
c.312G>T (p.Arg104=)
c.301-24G>T
n.427G>T
c.157G>T (p.Glu53Ter)
c.250-375G>T (n.250-375G>T)
n.399G>T
n.332G>T
 ClinVar dbSNP
17g.80214703C>GCA401362922CARD14,SGSHn.2845-1163C>G
c.418G>C (p.Glu140Gln)
c.436G>C (p.Glu146Gln)
c.453G>C (p.Arg151=)
n.375+330G>C
n.438G>C
n.373+330G>C
c.20G>C
c.312G>C (p.Arg104=)
c.301-24G>C
n.427G>C
c.157G>C (p.Glu53Gln)
c.250-375G>C (n.250-375G>C)
n.399G>C
n.332G>C
17g.80214703C>TCA401362923CARD14,SGSHn.2845-1163C>T
c.418G>A (p.Glu140Lys)
c.436G>A (p.Glu146Lys)
c.453G>A (p.Arg151=)
n.375+330G>A
n.438G>A
n.373+330G>A
c.20G>A
c.312G>A (p.Arg104=)
c.301-24G>A
n.427G>A
c.157G>A (p.Glu53Lys)
c.250-375G>A (n.250-375G>A)
n.399G>A
n.332G>A
17g.80214704C>ACA401362927CARD14,SGSHn.2845-1162C>A
c.417G>T (p.Thr139=)
c.435G>T (p.Thr145=)
c.452G>T (p.Arg151Leu)
n.375+329G>T
n.437G>T
n.373+329G>T
c.19G>T
c.311G>T (p.Arg104Leu)
c.301-25G>T
n.426G>T
c.156G>T (p.Thr52=)
c.250-376G>T (n.250-376G>T)
n.398G>T
n.331G>T
17g.80214704C=CA2277864361CARD14,SGSHn.2845-1162C=
c.417G= (p.Thr139=)
c.435G= (p.Thr145=)
c.452G= (p.Arg151=)
n.375+329G=
n.437G=
n.373+329G=
c.19G=
c.311G= (p.Arg104=)
c.301-25G=
n.426G=
c.156G= (p.Thr52=)
c.250-376G= (n.250-376G=)
n.398G=
n.331G=
17g.80214704C>GCA401362925CARD14,SGSHn.2845-1162C>G
c.417G>C (p.Thr139=)
c.435G>C (p.Thr145=)
c.452G>C (p.Arg151Pro)
n.375+329G>C
n.437G>C
n.373+329G>C
c.19G>C
c.311G>C (p.Arg104Pro)
c.301-25G>C
n.426G>C
c.156G>C (p.Thr52=)
c.250-376G>C (n.250-376G>C)
n.398G>C
n.331G>C
 ClinVar dbSNP
17g.80214704C>TCA8818019CARD14,SGSHn.2845-1162C>T
c.417G>A (p.Thr139=)
c.435G>A (p.Thr145=)
c.452G>A (p.Arg151Gln)
n.375+329G>A
n.437G>A
n.373+329G>A
c.19G>A
c.311G>A (p.Arg104Gln)
c.301-25G>A
n.426G>A
c.156G>A (p.Thr52=)
c.250-376G>A (n.250-376G>A)
n.398G>A
n.331G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214705G>ACA8818020CARD14,SGSHn.2845-1161G>A
c.416C>T (p.Thr139Met)
c.434C>T (p.Thr145Met)
c.451C>T (p.Arg151Trp)
n.375+328C>T
n.436C>T
n.373+328C>T
c.18C>T
c.310C>T (p.Arg104Trp)
c.301-26C>T
n.425C>T
c.155C>T (p.Thr52Met)
c.250-377C>T (n.250-377C>T)
n.397C>T
n.330C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214705G>CCA401362930CARD14,SGSHn.2845-1161G>C
c.416C>G (p.Thr139Arg)
c.434C>G (p.Thr145Arg)
c.451C>G (p.Arg151Gly)
n.375+328C>G
n.436C>G
n.373+328C>G
c.18C>G
c.310C>G (p.Arg104Gly)
c.301-26C>G
n.425C>G
c.155C>G (p.Thr52Arg)
c.250-377C>G (n.250-377C>G)
n.397C>G
n.330C>G
17g.80214705G=CA2277864362CARD14,SGSHn.2845-1161G=
c.416C= (p.Thr139=)
c.434C= (p.Thr145=)
c.451C= (p.Arg151=)
n.375+328C=
n.436C=
n.373+328C=
c.18C=
c.310C= (p.Arg104=)
c.301-26C=
n.425C=
c.155C= (p.Thr52=)
c.250-377C= (n.250-377C=)
n.397C=
n.330C=
17g.80214705G>TCA401362932CARD14,SGSHn.2845-1161G>T
c.416C>A (p.Thr139Lys)
c.434C>A (p.Thr145Lys)
c.451C>A (p.Arg151=)
n.375+328C>A
n.436C>A
n.373+328C>A
c.18C>A
c.310C>A (p.Arg104=)
c.301-26C>A
n.425C>A
c.155C>A (p.Thr52Lys)
c.250-377C>A (n.250-377C>A)
n.397C>A
n.330C>A
 dbSNP
17g.80214706T>ACA8818021CARD14,SGSHn.2845-1160T>A
c.415A>T (p.Thr139Ser)
c.433A>T (p.Thr145Ser)
c.450A>T (p.Thr150=)
n.375+327A>T
n.435A>T
n.373+327A>T
c.17A>T
c.309A>T (p.Thr103=)
c.301-27A>T
n.424A>T
c.154A>T (p.Thr52Ser)
c.250-378A>T (n.250-378A>T)
n.396A>T
n.329A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214706T>CCA8818022CARD14,SGSHn.2845-1160T>C
c.415A>G (p.Thr139Ala)
c.433A>G (p.Thr145Ala)
c.450A>G (p.Thr150=)
n.375+327A>G
n.435A>G
n.373+327A>G
c.17A>G
c.309A>G (p.Thr103=)
c.301-27A>G
n.424A>G
c.154A>G (p.Thr52Ala)
c.250-378A>G (n.250-378A>G)
n.396A>G
n.329A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214706T>GCA401362938CARD14,SGSHn.2845-1160T>G
c.415A>C (p.Thr139Pro)
c.433A>C (p.Thr145Pro)
c.450A>C (p.Thr150=)
n.375+327A>C
n.435A>C
n.373+327A>C
c.17A>C
c.309A>C (p.Thr103=)
c.301-27A>C
n.424A>C
c.154A>C (p.Thr52Pro)
c.250-378A>C (n.250-378A>C)
n.396A>C
n.329A>C
17g.80214706T=CA2277864363CARD14,SGSHn.2845-1160T=
c.415A= (p.Thr139=)
c.433A= (p.Thr145=)
c.450A= (p.Thr150=)
n.375+327A=
n.435A=
n.373+327A=
c.17A=
c.309A= (p.Thr103=)
c.301-27A=
n.424A=
c.154A= (p.Thr52=)
c.250-378A= (n.250-378A=)
n.396A=
n.329A=
17g.80214707G>ACA401362942CARD14,SGSHn.2845-1159G>A
c.414C>T (p.Tyr138=)
c.432C>T (p.Tyr144=)
c.449C>T (p.Thr150Ile)
n.375+326C>T
n.434C>T
n.373+326C>T
c.16C>T
c.308C>T (p.Thr103Ile)
c.301-28C>T
n.423C>T
c.153C>T (p.Tyr51=)
c.250-379C>T (n.250-379C>T)
n.395C>T
n.328C>T
 ClinVar dbSNP
17g.80214707G>CCA401362945CARD14,SGSHn.2845-1159G>C
c.414C>G (p.Tyr138Ter)
c.432C>G (p.Tyr144Ter)
c.449C>G (p.Thr150Arg)
n.375+326C>G
n.434C>G
n.373+326C>G
c.16C>G
c.308C>G (p.Thr103Arg)
c.301-28C>G
n.423C>G
c.153C>G (p.Tyr51Ter)
c.250-379C>G (n.250-379C>G)
n.395C>G
n.328C>G
17g.80214707G=CA2277864364CARD14,SGSHn.2845-1159G=
c.414C= (p.Tyr138=)
c.432C= (p.Tyr144=)
c.449C= (p.Thr150=)
n.375+326C=
n.434C=
n.373+326C=
c.16C=
c.308C= (p.Thr103=)
c.301-28C=
n.423C=
c.153C= (p.Tyr51=)
c.250-379C= (n.250-379C=)
n.395C=
n.328C=
17g.80214707G>TCA401362943CARD14,SGSHn.2845-1159G>T
c.414C>A (p.Tyr138Ter)
c.432C>A (p.Tyr144Ter)
c.449C>A (p.Thr150Lys)
n.375+326C>A
n.434C>A
n.373+326C>A
c.16C>A
c.308C>A (p.Thr103Lys)
c.301-28C>A
n.423C>A
c.153C>A (p.Tyr51Ter)
c.250-379C>A (n.250-379C>A)
n.395C>A
n.328C>A
 dbSNP
17g.80214708T>ACA401362947CARD14,SGSHn.2845-1158T>A
c.413A>T (p.Tyr138Phe)
c.431A>T (p.Tyr144Phe)
c.448A>T (p.Thr150Ser)
n.375+325A>T
n.433A>T
n.373+325A>T
c.15A>T
c.307A>T (p.Thr103Ser)
c.301-29A>T
n.422A>T
c.152A>T (p.Tyr51Phe)
c.250-380A>T (n.250-380A>T)
n.394A>T
n.327A>T
17g.80214708T>CCA401362950CARD14,SGSHn.2845-1158T>C
c.413A>G (p.Tyr138Cys)
c.431A>G (p.Tyr144Cys)
c.448A>G (p.Thr150Ala)
n.375+325A>G
n.433A>G
n.373+325A>G
c.15A>G
c.307A>G (p.Thr103Ala)
c.301-29A>G
n.422A>G
c.152A>G (p.Tyr51Cys)
c.250-380A>G (n.250-380A>G)
n.394A>G
n.327A>G
17g.80214708T>GCA401362953CARD14,SGSHn.2845-1158T>G
c.413A>C (p.Tyr138Ser)
c.431A>C (p.Tyr144Ser)
c.448A>C (p.Thr150Pro)
n.375+325A>C
n.433A>C
n.373+325A>C
c.15A>C
c.307A>C (p.Thr103Pro)
c.301-29A>C
n.422A>C
c.152A>C (p.Tyr51Ser)
c.250-380A>C (n.250-380A>C)
n.394A>C
n.327A>C
17g.80214709A=CA2277864365CARD14,SGSHn.2845-1157A=
c.412T= (p.Tyr138=)
c.430T= (p.Tyr144=)
c.447T= (p.Arg149=)
n.375+324T=
n.432T=
n.373+324T=
c.14T=
c.306T= (p.Arg102=)
c.301-30T=
n.421T=
c.151T= (p.Tyr51=)
c.250-381T= (n.250-381T=)
n.393T=
n.326T=
17g.80214709A>CCA401362957CARD14,SGSHn.2845-1157A>C
c.412T>G (p.Tyr138Asp)
c.430T>G (p.Tyr144Asp)
c.447T>G (p.Arg149=)
n.375+324T>G
n.432T>G
n.373+324T>G
c.14T>G
c.306T>G (p.Arg102=)
c.301-30T>G
n.421T>G
c.151T>G (p.Tyr51Asp)
c.250-381T>G (n.250-381T>G)
n.393T>G
n.326T>G
17g.80214709A>GCA401362960CARD14,SGSHn.2845-1157A>G
c.412T>C (p.Tyr138His)
c.430T>C (p.Tyr144His)
c.447T>C (p.Arg149=)
n.375+324T>C
n.432T>C
n.373+324T>C
c.14T>C
c.306T>C (p.Arg102=)
c.301-30T>C
n.421T>C
c.151T>C (p.Tyr51His)
c.250-381T>C (n.250-381T>C)
n.393T>C
n.326T>C
 dbSNP gnomAD v2 gnomAD v4
17g.80214709A>TCA401362963CARD14,SGSHn.2845-1157A>T
c.412T>A (p.Tyr138Asn)
c.430T>A (p.Tyr144Asn)
c.447T>A (p.Arg149=)
n.375+324T>A
n.432T>A
n.373+324T>A
c.14T>A
c.306T>A (p.Arg102=)
c.301-30T>A
n.421T>A
c.151T>A (p.Tyr51Asn)
c.250-381T>A (n.250-381T>A)
n.393T>A
n.326T>A
17g.80214710C>ACA401362966CARD14,SGSHn.2845-1156C>A
c.411G>T (p.Ala137=)
c.429G>T (p.Ala143=)
c.446G>T (p.Arg149Leu)
n.375+323G>T
n.431G>T
n.373+323G>T
c.13G>T
c.305G>T (p.Arg102Leu)
c.301-31G>T
n.420G>T
c.150G>T (p.Ala50=)
c.250-382G>T (n.250-382G>T)
n.392G>T
n.325G>T
17g.80214710C=CA2277864366CARD14,SGSHn.2845-1156C=
c.411G= (p.Ala137=)
c.429G= (p.Ala143=)
c.446G= (p.Arg149=)
n.375+323G=
n.431G=
n.373+323G=
c.13G=
c.305G= (p.Arg102=)
c.301-31G=
n.420G=
c.150G= (p.Ala50=)
c.250-382G= (n.250-382G=)
n.392G=
n.325G=
17g.80214710C>GCA401362968CARD14,SGSHn.2845-1156C>G
c.411G>C (p.Ala137=)
c.429G>C (p.Ala143=)
c.446G>C (p.Arg149Pro)
n.375+323G>C
n.431G>C
n.373+323G>C
c.13G>C
c.305G>C (p.Arg102Pro)
c.301-31G>C
n.420G>C
c.150G>C (p.Ala50=)
c.250-382G>C (n.250-382G>C)
n.392G>C
n.325G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.80214710C>TCA8818023CARD14,SGSHn.2845-1156C>T
c.411G>A (p.Ala137=)
c.429G>A (p.Ala143=)
c.446G>A (p.Arg149His)
n.375+323G>A
n.431G>A
n.373+323G>A
c.13G>A
c.305G>A (p.Arg102His)
c.301-31G>A
n.420G>A
c.150G>A (p.Ala50=)
c.250-382G>A (n.250-382G>A)
n.392G>A
n.325G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214711G>ACA8818024CARD14,SGSHn.2845-1155G>A
c.410C>T (p.Ala137Val)
c.428C>T (p.Ala143Val)
c.445C>T (p.Arg149Cys)
n.375+322C>T
n.430C>T
n.373+322C>T
c.12C>T
c.304C>T (p.Arg102Cys)
c.301-32C>T
n.419C>T
c.149C>T (p.Ala50Val)
c.250-383C>T (n.250-383C>T)
n.391C>T
n.324C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214711G>CCA401362973CARD14,SGSHn.2845-1155G>C
c.410C>G (p.Ala137Gly)
c.428C>G (p.Ala143Gly)
c.445C>G (p.Arg149Gly)
n.375+322C>G
n.430C>G
n.373+322C>G
c.12C>G
c.304C>G (p.Arg102Gly)
c.301-32C>G
n.419C>G
c.149C>G (p.Ala50Gly)
c.250-383C>G (n.250-383C>G)
n.391C>G
n.324C>G
17g.80214711G=CA2277864367CARD14,SGSHn.2845-1155G=
c.410C= (p.Ala137=)
c.428C= (p.Ala143=)
c.445C= (p.Arg149=)
n.375+322C=
n.430C=
n.373+322C=
c.12C=
c.304C= (p.Arg102=)
c.301-32C=
n.419C=
c.149C= (p.Ala50=)
c.250-383C= (n.250-383C=)
n.391C=
n.324C=
17g.80214711G>TCA401362976CARD14,SGSHn.2845-1155G>T
c.410C>A (p.Ala137Glu)
c.428C>A (p.Ala143Glu)
c.445C>A (p.Arg149Ser)
n.375+322C>A
n.430C>A
n.373+322C>A
c.12C>A
c.304C>A (p.Arg102Ser)
c.301-32C>A
n.419C>A
c.149C>A (p.Ala50Glu)
c.250-383C>A (n.250-383C>A)
n.391C>A
n.324C>A
17g.80214712C>ACA401362979CARD14,SGSHn.2845-1154C>A
c.409G>T (p.Ala137Ser)
c.427G>T (p.Ala143Ser)
c.444G>T (p.Leu148Phe)
n.375+321G>T
n.429G>T
n.373+321G>T
c.11G>T
c.303G>T (p.Leu101Phe)
c.301-33G>T
n.418G>T
c.148G>T (p.Ala50Ser)
c.250-384G>T (n.250-384G>T)
n.390G>T
n.323G>T
17g.80214712C>GCA401362985CARD14,SGSHn.2845-1154C>G
c.409G>C (p.Ala137Pro)
c.427G>C (p.Ala143Pro)
c.444G>C (p.Leu148Phe)
n.375+321G>C
n.429G>C
n.373+321G>C
c.11G>C
c.303G>C (p.Leu101Phe)
c.301-33G>C
n.418G>C
c.148G>C (p.Ala50Pro)
c.250-384G>C (n.250-384G>C)
n.390G>C
n.323G>C
17g.80214712C>TCA401362982CARD14,SGSHn.2845-1154C>T
c.409G>A (p.Ala137Thr)
c.427G>A (p.Ala143Thr)
c.444G>A (p.Leu148=)
n.375+321G>A
n.429G>A
n.373+321G>A
c.11G>A
c.303G>A (p.Leu101=)
c.301-33G>A
n.418G>A
c.148G>A (p.Ala50Thr)
c.250-384G>A (n.250-384G>A)
n.390G>A
n.323G>A
17g.80214712_80214714delinsCAACA2277864368CARD14,SGSHn.2845-1154_2845-1152delinsCAA
c.407_409delinsTTG (p.Phe136=)
c.425_427delinsTTG (p.Phe142=)
c.442_444delinsTTG (p.Leu148=)
n.375+319_375+321delinsTTG
n.427_429delinsTTG
n.373+319_373+321delinsTTG
c.9_11delinsTTG
c.301_303delinsTTG (p.Leu101=)
c.301-35_301-33delinsTTG
n.416_418delinsTTG
c.146_148delinsTTG (p.Phe49=)
c.250-386_250-384delinsTTG (n.250-386_250-384delinsTTG)
n.388_390delinsTTG
n.321_323delinsTTG
17g.80214713_80214730dupCA2640319977CARD14,SGSHn.2845-1153_2845-1136dup
c.392_409dup (p.Phe136_Ala137insValTyrProPheAspPhe)
c.410_427dup (p.Phe142_Ala143insValTyrProPheAspPhe)
c.427_444dup (p.Leu148_Arg149insCysThrArgLeuThrLeu)
n.375+304_375+321dup
n.412_429dup
n.373+304_373+321dup
c.286_303dup (p.Leu101_Arg102insCysThrArgLeuThrLeu)
c.301-50_301-33dup
n.401_418dup
c.131_148dup (p.Phe49_Ala50insValTyrProPheAspPhe)
c.250-401_250-384dup (n.250-401_250-384dup)
n.373_390dup
n.306_323dup
 gnomAD v4
17g.80214713A>CCA401362989CARD14,SGSHn.2845-1153A>C
c.408T>G (p.Phe136Leu)
c.426T>G (p.Phe142Leu)
c.443T>G (p.Leu148Trp)
n.375+320T>G
n.428T>G
n.373+320T>G
c.10T>G
c.302T>G (p.Leu101Trp)
c.301-34T>G
n.417T>G
c.147T>G (p.Phe49Leu)
c.250-385T>G (n.250-385T>G)
n.389T>G
n.322T>G
17g.80214713A>GCA401362992CARD14,SGSHn.2845-1153A>G
c.408T>C (p.Phe136=)
c.426T>C (p.Phe142=)
c.443T>C (p.Leu148Ser)
n.375+320T>C
n.428T>C
n.373+320T>C
c.10T>C
c.302T>C (p.Leu101Ser)
c.301-34T>C
n.417T>C
c.147T>C (p.Phe49=)
c.250-385T>C (n.250-385T>C)
n.389T>C
n.322T>C
 ClinVar gnomAD v4
17g.80214713A>TCA401362995CARD14,SGSHn.2845-1153A>T
c.408T>A (p.Phe136Leu)
c.426T>A (p.Phe142Leu)
c.443T>A (p.Leu148Ter)
n.375+320T>A
n.428T>A
n.373+320T>A
c.10T>A
c.302T>A (p.Leu101Ter)
c.301-34T>A
n.417T>A
c.147T>A (p.Phe49Leu)
c.250-385T>A (n.250-385T>A)
n.389T>A
n.322T>A
17g.80214714_80214715delCA8818025CARD14,SGSHn.2845-1152_2845-1151del
c.407_408del (p.Phe136CysfsTer18)
c.425_426del (p.Phe142CysfsTer18)
c.442_443del (p.Leu148AlafsTer?)
n.375+319_375+320del
n.427_428del
n.373+319_373+320del
c.9_10del
c.301_302del (p.Leu101AlafsTer?)
c.301-35_301-34del
n.416_417del
c.146_147del (p.Phe49CysfsTer18)
c.250-386_250-385del (n.250-386_250-385del)
n.388_389del
n.321_322del
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214714A>CCA401362999CARD14,SGSHn.2845-1152A>C
c.407T>G (p.Phe136Cys)
c.425T>G (p.Phe142Cys)
c.442T>G (p.Leu148Val)
n.375+319T>G
n.427T>G
n.373+319T>G
c.9T>G
c.301T>G (p.Leu101Val)
c.301-35T>G
n.416T>G
c.146T>G (p.Phe49Cys)
c.250-386T>G (n.250-386T>G)
n.388T>G
n.321T>G
17g.80214714A>GCA401363001CARD14,SGSHn.2845-1152A>G
c.407T>C (p.Phe136Ser)
c.425T>C (p.Phe142Ser)
c.442T>C (p.Leu148=)
n.375+319T>C
n.427T>C
n.373+319T>C
c.9T>C
c.301T>C (p.Leu101=)
c.301-35T>C
n.416T>C
c.146T>C (p.Phe49Ser)
c.250-386T>C (n.250-386T>C)
n.388T>C
n.321T>C
17g.80214714A>TCA401363003CARD14,SGSHn.2845-1152A>T
c.407T>A (p.Phe136Tyr)
c.425T>A (p.Phe142Tyr)
c.442T>A (p.Leu148Met)
n.375+319T>A
n.427T>A
n.373+319T>A
c.9T>A
c.301T>A (p.Leu101Met)
c.301-35T>A
n.416T>A
c.146T>A (p.Phe49Tyr)
c.250-386T>A (n.250-386T>A)
n.388T>A
n.321T>A
17g.80214715A=CA2277864369CARD14,SGSHn.2845-1151A=
c.406T= (p.Phe136=)
c.424T= (p.Phe142=)
c.441T= (p.Thr147=)
n.375+318T=
n.426T=
n.373+318T=
c.8T=
c.300T= (p.Thr100=)
c.301-36T=
n.415T=
c.145T= (p.Phe49=)
c.250-387T= (n.250-387T=)
n.387T=
n.320T=
17g.80214715A>CCA401363006CARD14,SGSHn.2845-1151A>C
c.406T>G (p.Phe136Val)
c.424T>G (p.Phe142Val)
c.441T>G (p.Thr147=)
n.375+318T>G
n.426T>G
n.373+318T>G
c.8T>G
c.300T>G (p.Thr100=)
c.301-36T>G
n.415T>G
c.145T>G (p.Phe49Val)
c.250-387T>G (n.250-387T>G)
n.387T>G
n.320T>G
17g.80214715A>GCA401363010CARD14,SGSHn.2845-1151A>G
c.406T>C (p.Phe136Leu)
c.424T>C (p.Phe142Leu)
c.441T>C (p.Thr147=)
n.375+318T>C
n.426T>C
n.373+318T>C
c.8T>C
c.300T>C (p.Thr100=)
c.301-36T>C
n.415T>C
c.145T>C (p.Phe49Leu)
c.250-387T>C (n.250-387T>C)
n.387T>C
n.320T>C
17g.80214715A>TCA8818026CARD14,SGSHn.2845-1151A>T
c.406T>A (p.Phe136Ile)
c.424T>A (p.Phe142Ile)
c.441T>A (p.Thr147=)
n.375+318T>A
n.426T>A
n.373+318T>A
c.8T>A
c.300T>A (p.Thr100=)
c.301-36T>A
n.415T>A
c.145T>A (p.Phe49Ile)
c.250-387T>A (n.250-387T>A)
n.387T>A
n.320T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214716G>ACA401363014CARD14,SGSHn.2845-1150G>A
c.405C>T (p.Asp135=)
c.423C>T (p.Asp141=)
c.440C>T (p.Thr147Ile)
n.375+317C>T
n.425C>T
n.373+317C>T
c.7C>T
c.299C>T (p.Thr100Ile)
c.301-37C>T
n.414C>T
c.144C>T (p.Asp48=)
c.250-388C>T (n.250-388C>T)
n.386C>T
n.319C>T
17g.80214716G>CCA401363015CARD14,SGSHn.2845-1150G>C
c.405C>G (p.Asp135Glu)
c.423C>G (p.Asp141Glu)
c.440C>G (p.Thr147Ser)
n.375+317C>G
n.425C>G
n.373+317C>G
c.7C>G
c.299C>G (p.Thr100Ser)
c.301-37C>G
n.414C>G
c.144C>G (p.Asp48Glu)
c.250-388C>G (n.250-388C>G)
n.386C>G
n.319C>G
17g.80214716G>TCA401363017CARD14,SGSHn.2845-1150G>T
c.405C>A (p.Asp135Glu)
c.423C>A (p.Asp141Glu)
c.440C>A (p.Thr147Asn)
n.375+317C>A
n.425C>A
n.373+317C>A
c.7C>A
c.299C>A (p.Thr100Asn)
c.301-37C>A
n.414C>A
c.144C>A (p.Asp48Glu)
c.250-388C>A (n.250-388C>A)
n.386C>A
n.319C>A
17g.80214717T>ACA401363026CARD14,SGSHn.2845-1149T>A
c.404A>T (p.Asp135Val)
c.422A>T (p.Asp141Val)
c.439A>T (p.Thr147Ser)
n.375+316A>T
n.424A>T
n.373+316A>T
c.6A>T
c.298A>T (p.Thr100Ser)
c.301-38A>T
n.413A>T
c.143A>T (p.Asp48Val)
c.250-389A>T (n.250-389A>T)
n.385A>T
n.318A>T
 dbSNP gnomAD v3 gnomAD v4
17g.80214717T>CCA401363022CARD14,SGSHn.2845-1149T>C
c.404A>G (p.Asp135Gly)
c.422A>G (p.Asp141Gly)
c.439A>G (p.Thr147Ala)
n.375+316A>G
n.424A>G
n.373+316A>G
c.6A>G
c.298A>G (p.Thr100Ala)
c.301-38A>G
n.413A>G
c.143A>G (p.Asp48Gly)
c.250-389A>G (n.250-389A>G)
n.385A>G
n.318A>G
17g.80214717T>GCA401363025CARD14,SGSHn.2845-1149T>G
c.404A>C (p.Asp135Ala)
c.422A>C (p.Asp141Ala)
c.439A>C (p.Thr147Pro)
n.375+316A>C
n.424A>C
n.373+316A>C
c.6A>C
c.298A>C (p.Thr100Pro)
c.301-38A>C
n.413A>C
c.143A>C (p.Asp48Ala)
c.250-389A>C (n.250-389A>C)
n.385A>C
n.318A>C
17g.80214717T=CA2277864370CARD14,SGSHn.2845-1149T=
c.404A= (p.Asp135=)
c.422A= (p.Asp141=)
c.439A= (p.Thr147=)
n.375+316A=
n.424A=
n.373+316A=
c.6A=
c.298A= (p.Thr100=)
c.301-38A=
n.413A=
c.143A= (p.Asp48=)
c.250-389A= (n.250-389A=)
n.385A=
n.318A=
17g.80214718C>ACA401363028CARD14,SGSHn.2845-1148C>A
c.403G>T (p.Asp135Tyr)
c.421G>T (p.Asp141Tyr)
c.438G>T (p.Leu146Phe)
n.375+315G>T
n.423G>T
n.373+315G>T
c.5G>T
c.297G>T (p.Leu99Phe)
c.301-39G>T
n.412G>T
c.142G>T (p.Asp48Tyr)
c.250-390G>T (n.250-390G>T)
n.384G>T
n.317G>T
17g.80214718C=CA2277864371CARD14,SGSHn.2845-1148C=
c.403G= (p.Asp135=)
c.421G= (p.Asp141=)
c.438G= (p.Leu146=)
n.375+315G=
n.423G=
n.373+315G=
c.5G=
c.297G= (p.Leu99=)
c.301-39G=
n.412G=
c.142G= (p.Asp48=)
c.250-390G= (n.250-390G=)
n.384G=
n.317G=
17g.80214718C>GCA401363031CARD14,SGSHn.2845-1148C>G
c.403G>C (p.Asp135His)
c.421G>C (p.Asp141His)
c.438G>C (p.Leu146Phe)
n.375+315G>C
n.423G>C
n.373+315G>C
c.5G>C
c.297G>C (p.Leu99Phe)
c.301-39G>C
n.412G>C
c.142G>C (p.Asp48His)
c.250-390G>C (n.250-390G>C)
n.384G>C
n.317G>C
17g.80214718C>TCA401363033CARD14,SGSHn.2845-1148C>T
c.403G>A (p.Asp135Asn)
c.421G>A (p.Asp141Asn)
c.438G>A (p.Leu146=)
n.375+315G>A
n.423G>A
n.373+315G>A
c.5G>A
c.297G>A (p.Leu99=)
c.301-39G>A
n.412G>A
c.142G>A (p.Asp48Asn)
c.250-390G>A (n.250-390G>A)
n.384G>A
n.317G>A
17g.80214719A>CCA401363035CARD14,SGSHn.2845-1147A>C
c.402T>G (p.Phe134Leu)
c.420T>G (p.Phe140Leu)
c.437T>G (p.Leu146Trp)
n.375+314T>G
n.422T>G
n.373+314T>G
c.4T>G
c.296T>G (p.Leu99Trp)
c.301-40T>G
n.411T>G
c.141T>G (p.Phe47Leu)
c.250-391T>G (n.250-391T>G)
n.383T>G
n.316T>G
17g.80214719A>GCA401363038CARD14,SGSHn.2845-1147A>G
c.402T>C (p.Phe134=)
c.420T>C (p.Phe140=)
c.437T>C (p.Leu146Ser)
n.375+314T>C
n.422T>C
n.373+314T>C
c.4T>C
c.296T>C (p.Leu99Ser)
c.301-40T>C
n.411T>C
c.141T>C (p.Phe47=)
c.250-391T>C (n.250-391T>C)
n.383T>C
n.316T>C
 gnomAD v4
17g.80214719A>TCA401363041CARD14,SGSHn.2845-1147A>T
c.402T>A (p.Phe134Leu)
c.420T>A (p.Phe140Leu)
c.437T>A (p.Leu146Ter)
n.375+314T>A
n.422T>A
n.373+314T>A
c.4T>A
c.296T>A (p.Leu99Ter)
c.301-40T>A
n.411T>A
c.141T>A (p.Phe47Leu)
c.250-391T>A (n.250-391T>A)
n.383T>A
n.316T>A
17g.80214721dupCA915952230CARD14,SGSHn.2845-1145dup
c.402dup (p.Asp135Ter)
c.420dup (p.Asp141Ter)
c.437dup (p.Leu146PhefsTer?)
n.375+314dup
n.422dup
n.373+314dup
c.4dup
c.296dup (p.Leu99PhefsTer?)
c.301-40dup
n.411dup
c.141dup (p.Asp48Ter)
c.250-391dup (n.250-391dup)
n.383dup
n.316dup
 ClinVar dbSNP
17g.80214720A>CCA401363044CARD14,SGSHn.2845-1146A>C
c.401T>G (p.Phe134Cys)
c.419T>G (p.Phe140Cys)
c.436T>G (p.Leu146Val)
n.375+313T>G
n.421T>G
n.373+313T>G
c.3T>G
c.295T>G (p.Leu99Val)
c.301-41T>G
n.410T>G
c.140T>G (p.Phe47Cys)
c.250-392T>G (n.250-392T>G)
n.382T>G
n.315T>G
17g.80214720A>GCA401363047CARD14,SGSHn.2845-1146A>G
c.401T>C (p.Phe134Ser)
c.419T>C (p.Phe140Ser)
c.436T>C (p.Leu146=)
n.375+313T>C
n.421T>C
n.373+313T>C
c.3T>C
c.295T>C (p.Leu99=)
c.301-41T>C
n.410T>C
c.140T>C (p.Phe47Ser)
c.250-392T>C (n.250-392T>C)
n.382T>C
n.315T>C
17g.80214720A>TCA401363049CARD14,SGSHn.2845-1146A>T
c.401T>A (p.Phe134Tyr)
c.419T>A (p.Phe140Tyr)
c.436T>A (p.Leu146Met)
n.375+313T>A
n.421T>A
n.373+313T>A
c.3T>A
c.295T>A (p.Leu99Met)
c.301-41T>A
n.410T>A
c.140T>A (p.Phe47Tyr)
c.250-392T>A (n.250-392T>A)
n.382T>A
n.315T>A
17g.80214721A>CCA401363051CARD14,SGSHn.2845-1145A>C
c.400T>G (p.Phe134Val)
c.418T>G (p.Phe140Val)
c.435T>G (p.Arg145=)
n.375+312T>G
n.420T>G
n.373+312T>G
c.2T>G
c.294T>G (p.Arg98=)
c.301-42T>G
n.409T>G
c.139T>G (p.Phe47Val)
c.250-393T>G (n.250-393T>G)
n.381T>G
n.314T>G
17g.80214721A>GCA401363053CARD14,SGSHn.2845-1145A>G
c.400T>C (p.Phe134Leu)
c.418T>C (p.Phe140Leu)
c.435T>C (p.Arg145=)
n.375+312T>C
n.420T>C
n.373+312T>C
c.2T>C
c.294T>C (p.Arg98=)
c.301-42T>C
n.409T>C
c.139T>C (p.Phe47Leu)
c.250-393T>C (n.250-393T>C)
n.381T>C
n.314T>C
17g.80214721A>TCA401363057CARD14,SGSHn.2845-1145A>T
c.400T>A (p.Phe134Ile)
c.418T>A (p.Phe140Ile)
c.435T>A (p.Arg145=)
n.375+312T>A
n.420T>A
n.373+312T>A
c.2T>A
c.294T>A (p.Arg98=)
c.301-42T>A
n.409T>A
c.139T>A (p.Phe47Ile)
c.250-393T>A (n.250-393T>A)
n.381T>A
n.314T>A
17g.80214722C>ACA401363060CARD14,SGSHn.2845-1144C>A
c.399G>T (p.Pro133=)
c.417G>T (p.Pro139=)
c.434G>T (p.Arg145Leu)
n.375+311G>T
n.419G>T
n.373+311G>T
c.1G>T
c.293G>T (p.Arg98Leu)
c.301-43G>T
n.408G>T
c.138G>T (p.Pro46=)
c.250-394G>T (n.250-394G>T)
n.380G>T
n.313G>T
17g.80214722C=CA2277864372CARD14,SGSHn.2845-1144C=
c.399G= (p.Pro133=)
c.417G= (p.Pro139=)
c.434G= (p.Arg145=)
n.375+311G=
n.419G=
n.373+311G=
c.1G=
c.293G= (p.Arg98=)
c.301-43G=
n.408G=
c.138G= (p.Pro46=)
c.250-394G= (n.250-394G=)
n.380G=
n.313G=
17g.80214722C>GCA8818028CARD14,SGSHn.2845-1144C>G
c.399G>C (p.Pro133=)
c.417G>C (p.Pro139=)
c.434G>C (p.Arg145Pro)
n.375+311G>C
n.419G>C
n.373+311G>C
c.1G>C
c.293G>C (p.Arg98Pro)
c.301-43G>C
n.408G>C
c.138G>C (p.Pro46=)
c.250-394G>C (n.250-394G>C)
n.380G>C
n.313G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214722C>TCA8818027CARD14,SGSHn.2845-1144C>T
c.399G>A (p.Pro133=)
c.417G>A (p.Pro139=)
c.434G>A (p.Arg145His)
n.375+311G>A
n.419G>A
n.373+311G>A
c.1G>A
c.293G>A (p.Arg98His)
c.301-43G>A
n.408G>A
c.138G>A (p.Pro46=)
c.250-394G>A (n.250-394G>A)
n.380G>A
n.313G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214723G>ACA8818029CARD14,SGSHn.2845-1143G>A
c.398C>T (p.Pro133Leu)
c.416C>T (p.Pro139Leu)
c.433C>T (p.Arg145Cys)
n.375+310C>T
n.418C>T
n.373+310C>T
c.292C>T (p.Arg98Cys)
c.301-44C>T
n.407C>T
c.137C>T (p.Pro46Leu)
c.250-395C>T (n.250-395C>T)
n.379C>T
n.312C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214723G>CCA401363066CARD14,SGSHn.2845-1143G>C
c.398C>G (p.Pro133Arg)
c.416C>G (p.Pro139Arg)
c.433C>G (p.Arg145Gly)
n.375+310C>G
n.418C>G
n.373+310C>G
c.292C>G (p.Arg98Gly)
c.301-44C>G
n.407C>G
c.137C>G (p.Pro46Arg)
c.250-395C>G (n.250-395C>G)
n.379C>G
n.312C>G
 dbSNP gnomAD v3 gnomAD v4
17g.80214723G=CA2277864373CARD14,SGSHn.2845-1143G=
c.398C= (p.Pro133=)
c.416C= (p.Pro139=)
c.433C= (p.Arg145=)
n.375+310C=
n.418C=
n.373+310C=
c.292C= (p.Arg98=)
c.301-44C=
n.407C=
c.137C= (p.Pro46=)
c.250-395C= (n.250-395C=)
n.379C=
n.312C=
17g.80214723G>TCA401363063CARD14,SGSHn.2845-1143G>T
c.398C>A (p.Pro133Gln)
c.416C>A (p.Pro139Gln)
c.433C>A (p.Arg145Ser)
n.375+310C>A
n.418C>A
n.373+310C>A
c.292C>A (p.Arg98Ser)
c.301-44C>A
n.407C>A
c.137C>A (p.Pro46Gln)
c.250-395C>A (n.250-395C>A)
n.379C>A
n.312C>A
 dbSNP gnomAD v2 gnomAD v4
17g.80214725delCA2573155035CARD14,SGSHn.2845-1141del
c.398del (p.Pro133ArgfsTer?)
c.416del (p.Pro139ArgfsTer?)
c.433del (p.Arg145ValfsTer2)
n.375+310del
n.418del
n.373+310del
c.292del (p.Arg98ValfsTer2)
c.301-44del
n.407del
c.137del (p.Pro46ArgfsTer?)
c.250-395del (n.250-395del)
n.379del
n.312del
 ClinVar dbSNP
17g.80214724G>ACA401363068CARD14,SGSHn.2845-1142G>A
c.397C>T (p.Pro133Ser)
c.415C>T (p.Pro139Ser)
c.432C>T (p.Thr144=)
n.375+309C>T
n.417C>T
n.373+309C>T
c.291C>T (p.Thr97=)
c.301-45C>T
n.406C>T
c.136C>T (p.Pro46Ser)
c.250-396C>T (n.250-396C>T)
n.378C>T
n.311C>T
 COSMIC
17g.80214724G>CCA401363071CARD14,SGSHn.2845-1142G>C
c.397C>G (p.Pro133Ala)
c.415C>G (p.Pro139Ala)
c.432C>G (p.Thr144=)
n.375+309C>G
n.417C>G
n.373+309C>G
c.291C>G (p.Thr97=)
c.301-45C>G
n.406C>G
c.136C>G (p.Pro46Ala)
c.250-396C>G (n.250-396C>G)
n.378C>G
n.311C>G
17g.80214724G=CA2277864374CARD14,SGSHn.2845-1142G=
c.397C= (p.Pro133=)
c.415C= (p.Pro139=)
c.432C= (p.Thr144=)
n.375+309C=
n.417C=
n.373+309C=
c.291C= (p.Thr97=)
c.301-45C=
n.406C=
c.136C= (p.Pro46=)
c.250-396C= (n.250-396C=)
n.378C=
n.311C=
17g.80214724G>TCA8818030CARD14,SGSHn.2845-1142G>T
c.397C>A (p.Pro133Thr)
c.415C>A (p.Pro139Thr)
c.432C>A (p.Thr144=)
n.375+309C>A
n.417C>A
n.373+309C>A
c.291C>A (p.Thr97=)
c.301-45C>A
n.406C>A
c.136C>A (p.Pro46Thr)
c.250-396C>A (n.250-396C>A)
n.378C>A
n.311C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214725G>ACA401363077CARD14,SGSHn.2845-1141G>A
c.396C>T (p.Tyr132=)
c.414C>T (p.Tyr138=)
c.431C>T (p.Thr144Ile)
n.375+308C>T
n.416C>T
n.373+308C>T
c.290C>T (p.Thr97Ile)
c.301-46C>T
n.405C>T
c.135C>T (p.Tyr45=)
c.250-397C>T (n.250-397C>T)
n.377C>T
n.310C>T
 gnomAD v4
17g.80214725G>CCA401363082CARD14,SGSHn.2845-1141G>C
c.396C>G (p.Tyr132Ter)
c.414C>G (p.Tyr138Ter)
c.431C>G (p.Thr144Ser)
n.375+308C>G
n.416C>G
n.373+308C>G
c.290C>G (p.Thr97Ser)
c.301-46C>G
n.405C>G
c.135C>G (p.Tyr45Ter)
c.250-397C>G (n.250-397C>G)
n.377C>G
n.310C>G
17g.80214725G>TCA401363083CARD14,SGSHn.2845-1141G>T
c.396C>A (p.Tyr132Ter)
c.414C>A (p.Tyr138Ter)
c.431C>A (p.Thr144Asn)
n.375+308C>A
n.416C>A
n.373+308C>A
c.290C>A (p.Thr97Asn)
c.301-46C>A
n.405C>A
c.135C>A (p.Tyr45Ter)
c.250-397C>A (n.250-397C>A)
n.377C>A
n.310C>A
 ClinVar
17g.80214726T>ACA401363088CARD14,SGSHn.2845-1140T>A
c.395A>T (p.Tyr132Phe)
c.413A>T (p.Tyr138Phe)
c.430A>T (p.Thr144Ser)
n.375+307A>T
n.415A>T
n.373+307A>T
c.289A>T (p.Thr97Ser)
c.301-47A>T
n.404A>T
c.134A>T (p.Tyr45Phe)
c.250-398A>T (n.250-398A>T)
n.376A>T
n.309A>T
17g.80214726T>CCA401363090CARD14,SGSHn.2845-1140T>C
c.395A>G (p.Tyr132Cys)
c.413A>G (p.Tyr138Cys)
c.430A>G (p.Thr144Ala)
n.375+307A>G
n.415A>G
n.373+307A>G
c.289A>G (p.Thr97Ala)
c.301-47A>G
n.404A>G
c.134A>G (p.Tyr45Cys)
c.250-398A>G (n.250-398A>G)
n.376A>G
n.309A>G
17g.80214726T>GCA401363091CARD14,SGSHn.2845-1140T>G
c.395A>C (p.Tyr132Ser)
c.413A>C (p.Tyr138Ser)
c.430A>C (p.Thr144Pro)
n.375+307A>C
n.415A>C
n.373+307A>C
c.289A>C (p.Thr97Pro)
c.301-47A>C
n.404A>C
c.134A>C (p.Tyr45Ser)
c.250-398A>C (n.250-398A>C)
n.376A>C
n.309A>C
17g.80214727A>CCA401363094CARD14,SGSHn.2845-1139A>C
c.394T>G (p.Tyr132Asp)
c.412T>G (p.Tyr138Asp)
c.429T>G (p.Cys143Trp)
n.375+306T>G
n.414T>G
n.373+306T>G
c.288T>G (p.Cys96Trp)
c.301-48T>G
n.403T>G
c.133T>G (p.Tyr45Asp)
c.250-399T>G (n.250-399T>G)
n.375T>G
n.308T>G
17g.80214727A>GCA401363097CARD14,SGSHn.2845-1139A>G
c.394T>C (p.Tyr132His)
c.412T>C (p.Tyr138His)
c.429T>C (p.Cys143=)
n.375+306T>C
n.414T>C
n.373+306T>C
c.288T>C (p.Cys96=)
c.301-48T>C
n.403T>C
c.133T>C (p.Tyr45His)
c.250-399T>C (n.250-399T>C)
n.375T>C
n.308T>C
17g.80214727A>TCA401363099CARD14,SGSHn.2845-1139A>T
c.394T>A (p.Tyr132Asn)
c.412T>A (p.Tyr138Asn)
c.429T>A (p.Cys143Ter)
n.375+306T>A
n.414T>A
n.373+306T>A
c.288T>A (p.Cys96Ter)
c.301-48T>A
n.403T>A
c.133T>A (p.Tyr45Asn)
c.250-399T>A (n.250-399T>A)
n.375T>A
n.308T>A
17g.80214728C>ACA401363107CARD14,SGSHn.2845-1138C>A
c.393G>T (p.Val131=)
c.411G>T (p.Val137=)
c.428G>T (p.Cys143Phe)
n.375+305G>T
n.413G>T
n.373+305G>T
c.287G>T (p.Cys96Phe)
c.301-49G>T
n.402G>T
c.132G>T (p.Val44=)
c.250-400G>T (n.250-400G>T)
n.374G>T
n.307G>T
 gnomAD v4
17g.80214728C>GCA401363102CARD14,SGSHn.2845-1138C>G
c.393G>C (p.Val131=)
c.411G>C (p.Val137=)
c.428G>C (p.Cys143Ser)
n.375+305G>C
n.413G>C
n.373+305G>C
c.287G>C (p.Cys96Ser)
c.301-49G>C
n.402G>C
c.132G>C (p.Val44=)
c.250-400G>C (n.250-400G>C)
n.374G>C
n.307G>C
17g.80214728C>TCA401363105CARD14,SGSHn.2845-1138C>T
c.393G>A (p.Val131=)
c.411G>A (p.Val137=)
c.428G>A (p.Cys143Tyr)
n.375+305G>A
n.413G>A
n.373+305G>A
c.287G>A (p.Cys96Tyr)
c.301-49G>A
n.402G>A
c.132G>A (p.Val44=)
c.250-400G>A (n.250-400G>A)
n.374G>A
n.307G>A
17g.80214729A=CA2277864375CARD14,SGSHn.2845-1137A=
c.392T= (p.Val131=)
c.410T= (p.Val137=)
c.427T= (p.Cys143=)
n.375+304T=
n.412T=
n.373+304T=
c.286T= (p.Cys96=)
c.301-50T=
n.401T=
c.131T= (p.Val44=)
c.250-401T= (n.250-401T=)
n.373T=
n.306T=
17g.80214729A>CCA401363108CARD14,SGSHn.2845-1137A>C
c.392T>G (p.Val131Gly)
c.410T>G (p.Val137Gly)
c.427T>G (p.Cys143Gly)
n.375+304T>G
n.412T>G
n.373+304T>G
c.286T>G (p.Cys96Gly)
c.301-50T>G
n.401T>G
c.131T>G (p.Val44Gly)
c.250-401T>G (n.250-401T>G)
n.373T>G
n.306T>G
17g.80214729A>GCA401363109CARD14,SGSHn.2845-1137A>G
c.392T>C (p.Val131Ala)
c.410T>C (p.Val137Ala)
c.427T>C (p.Cys143Arg)
n.375+304T>C
n.412T>C
n.373+304T>C
c.286T>C (p.Cys96Arg)
c.301-50T>C
n.401T>C
c.131T>C (p.Val44Ala)
c.250-401T>C (n.250-401T>C)
n.373T>C
n.306T>C
 dbSNP gnomAD v2 gnomAD v4
17g.80214729A>TCA401363110CARD14,SGSHn.2845-1137A>T
c.392T>A (p.Val131Glu)
c.410T>A (p.Val137Glu)
c.427T>A (p.Cys143Ser)
n.375+304T>A
n.412T>A
n.373+304T>A
c.286T>A (p.Cys96Ser)
c.301-50T>A
n.401T>A
c.131T>A (p.Val44Glu)
c.250-401T>A (n.250-401T>A)
n.373T>A
n.306T>A
17g.80214729_80214732delCA2580095331CARD14,SGSHn.2845-1137_2845-1134del
c.389_392del (p.Thr130SerfsTer?)
c.407_410del (p.Thr136SerfsTer?)
c.424_427del (p.Pro142ValfsTer4)
n.375+301_375+304del
n.409_412del
n.373+301_373+304del
c.283_286del (p.Pro95ValfsTer4)
c.301-53_301-50del
n.398_401del
c.128_131del (p.Thr43SerfsTer?)
c.250-404_250-401del (n.250-404_250-401del)
n.370_373del
n.303_306del
 ClinVar gnomAD v4
17g.80214729_80214730insGCA2580095332CARD14,SGSHn.2845-1137_2845-1136insG
c.391_392insC (p.Val131AlafsTer5)
c.409_410insC (p.Val137AlafsTer5)
c.426_427insC (p.Cys143LeufsTer?)
n.375+303_375+304insC
n.411_412insC
n.373+303_373+304insC
c.285_286insC (p.Cys96LeufsTer?)
c.301-51_301-50insC
n.400_401insC
c.130_131insC (p.Val44AlafsTer5)
c.250-402_250-401insC (n.250-402_250-401insC)
n.372_373insC
n.305_306insC
 ClinVar
17g.80214730delCA2580095333CARD14,SGSHn.2845-1136del
c.391del (p.Val131CysfsTer?)
c.409del (p.Val137CysfsTer?)
c.426del (p.Cys143ValfsTer4)
n.375+303del
n.411del
n.373+303del
c.285del (p.Cys96ValfsTer4)
c.301-51del
n.400del
c.130del (p.Val44CysfsTer?)
c.250-402del (n.250-402del)
n.372del
n.305del
 ClinVar
17g.80214730C>ACA401363112CARD14,SGSHn.2845-1136C>A
c.391G>T (p.Val131Leu)
c.409G>T (p.Val137Leu)
c.426G>T (p.Pro142=)
n.375+303G>T
n.411G>T
n.373+303G>T
c.285G>T (p.Pro95=)
c.301-51G>T
n.400G>T
c.130G>T (p.Val44Leu)
c.250-402G>T (n.250-402G>T)
n.372G>T
n.305G>T
17g.80214730C=CA2277864376CARD14,SGSHn.2845-1136C=
c.391G= (p.Val131=)
c.409G= (p.Val137=)
c.426G= (p.Pro142=)
n.375+303G=
n.411G=
n.373+303G=
c.285G= (p.Pro95=)
c.301-51G=
n.400G=
c.130G= (p.Val44=)
c.250-402G= (n.250-402G=)
n.372G=
n.305G=
17g.80214730C>GCA401363114CARD14,SGSHn.2845-1136C>G
c.391G>C (p.Val131Leu)
c.409G>C (p.Val137Leu)
c.426G>C (p.Pro142=)
n.375+303G>C
n.411G>C
n.373+303G>C
c.285G>C (p.Pro95=)
c.301-51G>C
n.400G>C
c.130G>C (p.Val44Leu)
c.250-402G>C (n.250-402G>C)
n.372G>C
n.305G>C
17g.80214730C>TCA8818031CARD14,SGSHn.2845-1136C>T
c.391G>A (p.Val131Met)
c.409G>A (p.Val137Met)
c.426G>A (p.Pro142=)
n.375+303G>A
n.411G>A
n.373+303G>A
c.285G>A (p.Pro95=)
c.301-51G>A
n.400G>A
c.130G>A (p.Val44Met)
c.250-402G>A (n.250-402G>A)
n.372G>A
n.305G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214731G>ACA8818032CARD14,SGSHn.2845-1135G>A
c.390C>T (p.Thr130=)
c.408C>T (p.Thr136=)
c.425C>T (p.Pro142Leu)
n.375+302C>T
n.410C>T
n.373+302C>T
c.284C>T (p.Pro95Leu)
c.301-52C>T
n.399C>T
c.129C>T (p.Thr43=)
c.250-403C>T (n.250-403C>T)
n.371C>T
n.304C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214731G>CCA8818033CARD14,SGSHn.2845-1135G>C
c.390C>G (p.Thr130=)
c.408C>G (p.Thr136=)
c.425C>G (p.Pro142Arg)
n.375+302C>G
n.410C>G
n.373+302C>G
c.284C>G (p.Pro95Arg)
c.301-52C>G
n.399C>G
c.129C>G (p.Thr43=)
c.250-403C>G (n.250-403C>G)
n.371C>G
n.304C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214731G=CA2277864377CARD14,SGSHn.2845-1135G=
c.390C= (p.Thr130=)
c.408C= (p.Thr136=)
c.425C= (p.Pro142=)
n.375+302C=
n.410C=
n.373+302C=
c.284C= (p.Pro95=)
c.301-52C=
n.399C=
c.129C= (p.Thr43=)
c.250-403C= (n.250-403C=)
n.371C=
n.304C=
17g.80214731G>TCA401363122CARD14,SGSHn.2845-1135G>T
c.390C>A (p.Thr130=)
c.408C>A (p.Thr136=)
c.425C>A (p.Pro142Gln)
n.375+302C>A
n.410C>A
n.373+302C>A
c.284C>A (p.Pro95Gln)
c.301-52C>A
n.399C>A
c.129C>A (p.Thr43=)
c.250-403C>A (n.250-403C>A)
n.371C>A
n.304C>A
17g.80214732G>ACA401363126CARD14,SGSHn.2845-1134G>A
c.389C>T (p.Thr130Ile)
c.407C>T (p.Thr136Ile)
c.424C>T (p.Pro142Ser)
n.375+301C>T
n.409C>T
n.373+301C>T
c.283C>T (p.Pro95Ser)
c.301-53C>T
n.398C>T
c.128C>T (p.Thr43Ile)
c.250-404C>T (n.250-404C>T)
n.370C>T
n.303C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80214732G>CCA401363129CARD14,SGSHn.2845-1134G>C
c.389C>G (p.Thr130Ser)
c.407C>G (p.Thr136Ser)
c.424C>G (p.Pro142Ala)
n.375+301C>G
n.409C>G
n.373+301C>G
c.283C>G (p.Pro95Ala)
c.301-53C>G
n.398C>G
c.128C>G (p.Thr43Ser)
c.250-404C>G (n.250-404C>G)
n.370C>G
n.303C>G
17g.80214732G=CA2277864378CARD14,SGSHn.2845-1134G=
c.389C= (p.Thr130=)
c.407C= (p.Thr136=)
c.424C= (p.Pro142=)
n.375+301C=
n.409C=
n.373+301C=
c.283C= (p.Pro95=)
c.301-53C=
n.398C=
c.128C= (p.Thr43=)
c.250-404C= (n.250-404C=)
n.370C=
n.303C=
17g.80214732G>TCA401363132CARD14,SGSHn.2845-1134G>T
c.389C>A (p.Thr130Asn)
c.407C>A (p.Thr136Asn)
c.424C>A (p.Pro142Thr)
n.375+301C>A
n.409C>A
n.373+301C>A
c.283C>A (p.Pro95Thr)
c.301-53C>A
n.398C>A
c.128C>A (p.Thr43Asn)
c.250-404C>A (n.250-404C>A)
n.370C>A
n.303C>A
17g.80214733T>ACA401363141CARD14,SGSHn.2845-1133T>A
c.388A>T (p.Thr130Ser)
c.406A>T (p.Thr136Ser)
c.423A>T (p.Arg141Ser)
n.375+300A>T
n.408A>T
n.373+300A>T
c.282A>T (p.Arg94Ser)
c.301-54A>T
n.397A>T
c.127A>T (p.Thr43Ser)
c.250-405A>T (n.250-405A>T)
n.369A>T
n.302A>T
 dbSNP
17g.80214733T>CCA401363138CARD14,SGSHn.2845-1133T>C
c.388A>G (p.Thr130Ala)
c.406A>G (p.Thr136Ala)
c.423A>G (p.Arg141=)
n.375+300A>G
n.408A>G
n.373+300A>G
c.282A>G (p.Arg94=)
c.301-54A>G
n.397A>G
c.127A>G (p.Thr43Ala)
c.250-405A>G (n.250-405A>G)
n.369A>G
n.302A>G
17g.80214733T>GCA401363135CARD14,SGSHn.2845-1133T>G
c.388A>C (p.Thr130Pro)
c.406A>C (p.Thr136Pro)
c.423A>C (p.Arg141Ser)
n.375+300A>C
n.408A>C
n.373+300A>C
c.282A>C (p.Arg94Ser)
c.301-54A>C
n.397A>C
c.127A>C (p.Thr43Pro)
c.250-405A>C (n.250-405A>C)
n.369A>C
n.302A>C
17g.80214733T=CA2277864379CARD14,SGSHn.2845-1133T=
c.388A= (p.Thr130=)
c.406A= (p.Thr136=)
c.423A= (p.Arg141=)
n.375+300A=
n.408A=
n.373+300A=
c.282A= (p.Arg94=)
c.301-54A=
n.397A=
c.127A= (p.Thr43=)
c.250-405A= (n.250-405A=)
n.369A=
n.302A=
17g.80214734C>ACA401363150CARD14,SGSHn.2845-1132C>A
c.387G>T (p.Glu129Asp)
c.405G>T (p.Glu135Asp)
c.422G>T (p.Arg141Ile)
n.375+299G>T
n.407G>T
n.373+299G>T
c.281G>T (p.Arg94Ile)
c.301-55G>T
n.396G>T
c.126G>T (p.Glu42Asp)
c.250-406G>T (n.250-406G>T)
n.368G>T
n.301G>T
17g.80214734C>GCA401363144CARD14,SGSHn.2845-1132C>G
c.387G>C (p.Glu129Asp)
c.405G>C (p.Glu135Asp)
c.422G>C (p.Arg141Thr)
n.375+299G>C
n.407G>C
n.373+299G>C
c.281G>C (p.Arg94Thr)
c.301-55G>C
n.396G>C
c.126G>C (p.Glu42Asp)
c.250-406G>C (n.250-406G>C)
n.368G>C
n.301G>C
17g.80214734C>TCA401363146CARD14,SGSHn.2845-1132C>T
c.387G>A (p.Glu129=)
c.405G>A (p.Glu135=)
c.422G>A (p.Arg141Lys)
n.375+299G>A
n.407G>A
n.373+299G>A
c.281G>A (p.Arg94Lys)
c.301-55G>A
n.396G>A
c.126G>A (p.Glu42=)
c.250-406G>A (n.250-406G>A)
n.368G>A
n.301G>A
17g.80214735T>ACA401363152CARD14,SGSHn.2845-1131T>A
c.386A>T (p.Glu129Val)
c.404A>T (p.Glu135Val)
c.421A>T (p.Arg141Ter)
n.375+298A>T
n.406A>T
n.373+298A>T
c.280A>T (p.Arg94Ter)
c.301-56A>T
n.395A>T
c.125A>T (p.Glu42Val)
c.250-407A>T (n.250-407A>T)
n.367A>T
n.300A>T
17g.80214735T>CCA401363155CARD14,SGSHn.2845-1131T>C
c.386A>G (p.Glu129Gly)
c.404A>G (p.Glu135Gly)
c.421A>G (p.Arg141Gly)
n.375+298A>G
n.406A>G
n.373+298A>G
c.280A>G (p.Arg94Gly)
c.301-56A>G
n.395A>G
c.125A>G (p.Glu42Gly)
c.250-407A>G (n.250-407A>G)
n.367A>G
n.300A>G
17g.80214735T>GCA401363157CARD14,SGSHn.2845-1131T>G
c.386A>C (p.Glu129Ala)
c.404A>C (p.Glu135Ala)
c.421A>C (p.Arg141=)
n.375+298A>C
n.406A>C
n.373+298A>C
c.280A>C (p.Arg94=)
c.301-56A>C
n.395A>C
c.125A>C (p.Glu42Ala)
c.250-407A>C (n.250-407A>C)
n.367A>C
n.300A>C
17g.80214735_80214736delinsTCCA2277864380CARD14,SGSHn.2845-1131_2845-1130delinsTC
c.385_386delinsGA (p.Glu129=)
c.403_404delinsGA (p.Glu135=)
c.420_421delinsGA (p.Arg140=)
n.375+297_375+298delinsGA
n.405_406delinsGA
n.373+297_373+298delinsGA
c.279_280delinsGA (p.Arg93=)
c.301-57_301-56delinsGA
n.394_395delinsGA
c.124_125delinsGA (p.Glu42=)
c.250-408_250-407delinsGA (n.250-408_250-407delinsGA)
n.366_367delinsGA
n.299_300delinsGA
17g.80214736C>ACA401363164CARD14,SGSHn.2845-1130C>A
c.385G>T (p.Glu129Ter)
c.403G>T (p.Glu135Ter)
c.420G>T (p.Arg140=)
n.375+297G>T
n.405G>T
n.373+297G>T
c.279G>T (p.Arg93=)
c.301-57G>T
n.394G>T
c.124G>T (p.Glu42Ter)
c.250-408G>T (n.250-408G>T)
n.366G>T
n.299G>T
17g.80214736C>GCA401363161CARD14,SGSHn.2845-1130C>G
c.385G>C (p.Glu129Gln)
c.403G>C (p.Glu135Gln)
c.420G>C (p.Arg140=)
n.375+297G>C
n.405G>C
n.373+297G>C
c.279G>C (p.Arg93=)
c.301-57G>C
n.394G>C
c.124G>C (p.Glu42Gln)
c.250-408G>C (n.250-408G>C)
n.366G>C
n.299G>C
 ClinVar
17g.80214736C>TCA401363160CARD14,SGSHn.2845-1130C>T
c.385G>A (p.Glu129Lys)
c.403G>A (p.Glu135Lys)
c.420G>A (p.Arg140=)
n.375+297G>A
n.405G>A
n.373+297G>A
c.279G>A (p.Arg93=)
c.301-57G>A
n.394G>A
c.124G>A (p.Glu42Lys)
c.250-408G>A (n.250-408G>A)
n.366G>A
n.299G>A
17g.80214737delCA628019356CARD14,SGSHn.2845-1129del
c.385del (p.Glu129ArgfsTer?)
c.403del (p.Glu135ArgfsTer?)
c.420del (p.Arg141AspfsTer6)
n.375+297del
n.405del
n.373+297del
c.279del (p.Arg94AspfsTer6)
c.301-57del
n.394del
c.124del (p.Glu42ArgfsTer?)
c.250-408del (n.250-408del)
n.366del
n.299del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.80214737C>ACA401363165CARD14,SGSHn.2845-1129C>A
c.384G>T (p.Pro128=)
c.402G>T (p.Pro134=)
c.419G>T (p.Arg140Leu)
n.375+296G>T
n.404G>T
n.373+296G>T
c.278G>T (p.Arg93Leu)
c.301-58G>T
n.393G>T
c.123G>T (p.Pro41=)
c.250-409G>T (n.250-409G>T)
n.365G>T
n.298G>T
17g.80214737C=CA2277864381CARD14,SGSHn.2845-1129C=
c.384G= (p.Pro128=)
c.402G= (p.Pro134=)
c.419G= (p.Arg140=)
n.375+296G=
n.404G=
n.373+296G=
c.278G= (p.Arg93=)
c.301-58G=
n.393G=
c.123G= (p.Pro41=)
c.250-409G= (n.250-409G=)
n.365G=
n.298G=
17g.80214737C>GCA401363167CARD14,SGSHn.2845-1129C>G
c.384G>C (p.Pro128=)
c.402G>C (p.Pro134=)
c.419G>C (p.Arg140Pro)
n.375+296G>C
n.404G>C
n.373+296G>C
c.278G>C (p.Arg93Pro)
c.301-58G>C
n.393G>C
c.123G>C (p.Pro41=)
c.250-409G>C (n.250-409G>C)
n.365G>C
n.298G>C
17g.80214737C>TCA8818034CARD14,SGSHn.2845-1129C>T
c.384G>A (p.Pro128=)
c.402G>A (p.Pro134=)
c.419G>A (p.Arg140Gln)
n.375+296G>A
n.404G>A
n.373+296G>A
c.278G>A (p.Arg93Gln)
c.301-58G>A
n.393G>A
c.123G>A (p.Pro41=)
c.250-409G>A (n.250-409G>A)
n.365G>A
n.298G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.80214738G>ACA117260CARD14,SGSHn.2845-1128G>A
c.383C>T (p.Pro128Leu)
c.401C>T (p.Pro134Leu)
c.418C>T (p.Arg140Trp)
n.375+295C>T
n.403C>T
n.373+295C>T
c.277C>T (p.Arg93Trp)
c.301-59C>T
n.392C>T
c.122C>T (p.Pro41Leu)
c.250-410C>T (n.250-410C>T)
n.364C>T
n.297C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.80214738G>CCA401363172CARD14,SGSHn.2845-1128G>C
c.383C>G (p.Pro128Arg)
c.401C>G (p.Pro134Arg)
c.418C>G (p.Arg140Gly)
n.375+295C>G
n.403C>G
n.373+295C>G
c.277C>G (p.Arg93Gly)
c.301-59C>G
n.392C>G
c.122C>G (p.Pro41Arg)
c.250-410C>G (n.250-410C>G)
n.364C>G
n.297C>G
17g.80214738G=CA2277864382CARD14,SGSHn.2845-1128G=
c.383C= (p.Pro128=)
c.401C= (p.Pro134=)
c.418C= (p.Arg140=)
n.375+295C=
n.403C=
n.373+295C=
c.277C= (p.Arg93=)
c.301-59C=
n.392C=
c.122C= (p.Pro41=)
c.250-410C= (n.250-410C=)
n.364C=
n.297C=
17g.80214738G>TCA401363175CARD14,SGSHn.2845-1128G>T
c.383C>A (p.Pro128Gln)
c.401C>A (p.Pro134Gln)
c.418C>A (p.Arg140=)
n.375+295C>A
n.403C>A
n.373+295C>A
c.277C>A (p.Arg93=)
c.301-59C>A
n.392C>A
c.122C>A (p.Pro41Gln)
c.250-410C>A (n.250-410C>A)
n.364C>A
n.297C>A
17g.80214739G>ACA401363178CARD14,SGSHn.2845-1127G>A
c.382C>T (p.Pro128Ser)
c.400C>T (p.Pro134Ser)
c.417C>T (p.Gly139=)
n.375+294C>T
n.402C>T
n.373+294C>T
c.276C>T (p.Gly92=)
c.301-60C>T
n.391C>T
c.121C>T (p.Pro41Ser)
c.250-411C>T (n.250-411C>T)
n.363C>T
n.296C>T
 dbSNP gnomAD v2 gnomAD v4
17g.80214739G>CCA401363184CARD14,SGSHn.2845-1127G>C
c.382C>G (p.Pro128Ala)
c.400C>G (p.Pro134Ala)
c.417C>G (p.Gly139=)
n.375+294C>G
n.402C>G
n.373+294C>G
c.276C>G (p.Gly92=)
c.301-60C>G
n.391C>G
c.121C>G (p.Pro41Ala)
c.250-411C>G (n.250-411C>G)
n.363C>G
n.296C>G
17g.80214739G=CA2277864383CARD14,SGSHn.2845-1127G=
c.382C= (p.Pro128=)
c.400C= (p.Pro134=)
c.417C= (p.Gly139=)
n.375+294C=
n.402C=
n.373+294C=
c.276C= (p.Gly92=)
c.301-60C=
n.391C=
c.121C= (p.Pro41=)
c.250-411C= (n.250-411C=)
n.363C=
n.296C=
17g.80214739G>TCA401363181CARD14,SGSHn.2845-1127G>T
c.382C>A (p.Pro128Thr)
c.400C>A (p.Pro134Thr)
c.417C>A (p.Gly139=)
n.375+294C>A
n.402C>A
n.373+294C>A
c.276C>A (p.Gly92=)
c.301-60C>A
n.391C>A
c.121C>A (p.Pro41Thr)
c.250-411C>A (n.250-411C>A)
n.363C>A
n.296C>A
 gnomAD v4
17g.80214740C>ACA401363187CARD14,SGSHn.2845-1126C>A
c.381G>T (p.Gly127=)
c.399G>T (p.Gly133=)
c.416G>T (p.Gly139Val)
n.375+293G>T
n.401G>T
n.373+293G>T
c.275G>T (p.Gly92Val)
c.301-61G>T
n.390G>T
c.120G>T (p.Gly40=)
c.250-412G>T (n.250-412G>T)
n.362G>T
n.295G>T
 gnomAD v4
17g.80214740C>GCA401363190CARD14,SGSHn.2845-1126C>G
c.381G>C (p.Gly127=)
c.399G>C (p.Gly133=)
c.416G>C (p.Gly139Ala)
n.375+293G>C
n.401G>C
n.373+293G>C
c.275G>C (p.Gly92Ala)
c.301-61G>C
n.390G>C
c.120G>C (p.Gly40=)
c.250-412G>C (n.250-412G>C)
n.362G>C
n.295G>C
17g.80214740C>TCA401363192CARD14,SGSHn.2845-1126C>T
c.381G>A (p.Gly127=)
c.399G>A (p.Gly133=)
c.416G>A (p.Gly139Asp)
n.375+293G>A
n.401G>A
n.373+293G>A
c.275G>A (p.Gly92Asp)
c.301-61G>A
n.390G>A
c.120G>A (p.Gly40=)
c.250-412G>A (n.250-412G>A)
n.362G>A
n.295G>A
 ClinVar dbSNP gnomAD v4
17g.80214743delCA2740097893CARD14,SGSHn.2845-1123del
c.381del (p.Pro128ArgfsTer?)
c.399del (p.Pro134ArgfsTer?)
c.416del (p.Gly139AlafsTer8)
n.375+293del
n.401del
n.373+293del
c.275del (p.Gly92AlafsTer8)
c.301-61del
n.390del
c.120del (p.Pro41ArgfsTer?)
c.250-412del (n.250-412del)
n.362del
n.295del
17g.80214741C>ACA401363195CARD14,SGSHn.2845-1125C>A
c.380G>T (p.Gly127Val)
c.398G>T (p.Gly133Val)
c.415G>T (p.Gly139Cys)
n.375+292G>T
n.400G>T
n.373+292G>T
c.274G>T (p.Gly92Cys)
c.301-62G>T
n.389G>T
c.119G>T (p.Gly40Val)
c.250-413G>T (n.250-413G>T)
n.361G>T
n.294G>T
17g.80214741C>GCA401363197CARD14,SGSHn.2845-1125C>G
c.380G>C (p.Gly127Ala)
c.398G>C (p.Gly133Ala)
c.415G>C (p.Gly139Arg)
n.375+292G>C
n.400G>C
n.373+292G>C
c.274G>C (p.Gly92Arg)
c.301-62G>C
n.389G>C
c.119G>C (p.Gly40Ala)
c.250-413G>C (n.250-413G>C)
n.361G>C
n.294G>C
17g.80214741C>TCA401363200CARD14,SGSHn.2845-1125C>T
c.380G>A (p.Gly127Glu)
c.398G>A (p.Gly133Glu)
c.415G>A (p.Gly139Ser)
n.375+292G>A
n.400G>A
n.373+292G>A
c.274G>A (p.Gly92Ser)
c.301-62G>A
n.389G>A
c.119G>A (p.Gly40Glu)
c.250-413G>A (n.250-413G>A)
n.361G>A
n.294G>A
 ClinVar
17g.80214744_80214797delCA2695200367CARD14,SGSHn.2845-1122_2845-1069del
c.356-29_380del
c.356-11_398del
c.391-29_415del
n.375+239_375+292del
n.376-29_400del
n.373+239_373+292del
c.250-29_274del
c.301-115_301-62del
n.365-29_389del
c.95-29_119del
c.250-466_250-413del (n.250-466_250-413del)
n.337-29_361del
n.270-29_294del
 ClinVar
17g.80214742C>ACA401363203CARD14,SGSHn.2845-1124C>A
c.379G>T (p.Gly127Trp)
c.397G>T (p.Gly133Trp)
c.414G>T (p.Trp138Cys)
n.375+291G>T
n.399G>T
n.373+291G>T
c.273G>T (p.Trp91Cys)
c.301-63G>T
n.388G>T
c.118G>T (p.Gly40Trp)
c.250-414G>T (n.250-414G>T)
n.360G>T
n.293G>T
17g.80214742C=CA2277864384CARD14,SGSHn.2845-1124C=
c.379G= (p.Gly127=)
c.397G= (p.Gly133=)
c.414G= (p.Trp138=)
n.375+291G=
n.399G=
n.373+291G=
c.273G= (p.Trp91=)
c.301-63G=
n.388G=
c.118G= (p.Gly40=)
c.250-414G= (n.250-414G=)
n.360G=
n.293G=
17g.80214742C>GCA8818035CARD14,SGSHn.2845-1124C>G
c.379G>C (p.Gly127Arg)
c.397G>C (p.Gly133Arg)
c.414G>C (p.Trp138Cys)
n.375+291G>C
n.399G>C
n.373+291G>C
c.273G>C (p.Trp91Cys)
c.301-63G>C
n.388G>C
c.118G>C (p.Gly40Arg)
c.250-414G>C (n.250-414G>C)
n.360G>C
n.293G>C
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.80214742C>TCA401363208CARD14,SGSHn.2845-1124C>T
c.379G>A (p.Gly127Arg)
c.397G>A (p.Gly133Arg)
c.414G>A (p.Trp138Ter)
n.375+291G>A
n.399G>A
n.373+291G>A
c.273G>A (p.Trp91Ter)
c.301-63G>A
n.388G>A
c.118G>A (p.Gly40Arg)
c.250-414G>A (n.250-414G>A)
n.360G>A
n.293G>A
 dbSNP
17g.80214743C>ACA8818036CARD14,SGSHn.2845-1123C>A
c.378G>T (p.Val126=)
c.396G>T (p.Val132=)
c.413G>T (p.Trp138Leu)
n.375+290G>T
n.398G>T
n.373+290G>T
c.272G>T (p.Trp91Leu)
c.301-64G>T
n.387G>T
c.117G>T (p.Val39=)
c.250-415G>T (n.250-415G>T)
n.359G>T
n.292G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.80214743C=CA2277864385CARD14,SGSHn.2845-1123C=
c.378G= (p.Val126=)
c.396G= (p.Val132=)
c.413G= (p.Trp138=)
n.375+290G=
n.398G=
n.373+290G=
c.272G= (p.Trp91=)
c.301-64G=
n.387G=
c.117G= (p.Val39=)
c.250-415G= (n.250-415G=)
n.359G=
n.292G=
17g.80214743C>GCA401363210CARD14,SGSHn.2845-1123C>G
c.378G>C (p.Val126=)
c.396G>C (p.Val132=)
c.413G>C (p.Trp138Ser)
n.375+290G>C
n.398G>C
n.373+290G>C
c.272G>C (p.Trp91Ser)
c.301-64G>C
n.387G>C
c.117G>C (p.Val39=)
c.250-415G>C (n.250-415G>C)
n.359G>C
n.292G>C
17g.80214743C>TCA401363213CARD14,SGSHn.2845-1123C>T
c.378G>A (p.Val126=)
c.396G>A (p.Val132=)
c.413G>A (p.Trp138Ter)
n.375+290G>A
n.398G>A
n.373+290G>A
c.272G>A (p.Trp91Ter)
c.301-64G>A
n.387G>A
c.117G>A (p.Val39=)
c.250-415G>A (n.250-415G>A)
n.359G>A
n.292G>A
 ClinVar dbSNP
17g.80214744A=CA2277864386CARD14,SGSHn.2845-1122A=
c.377T= (p.Val126=)
c.395T= (p.Val132=)
c.412T= (p.Trp138=)
n.375+289T=
n.397T=
n.373+289T=
c.271T= (p.Trp91=)
c.301-65T=
n.386T=
c.116T= (p.Val39=)
c.250-416T= (n.250-416T=)
n.358T=
n.291T=
17g.80214744A>CCA401363218CARD14,SGSHn.2845-1122A>C
c.377T>G (p.Val126Gly)
c.395T>G (p.Val132Gly)
c.412T>G (p.Trp138Gly)
n.375+289T>G
n.397T>G
n.373+289T>G
c.271T>G (p.Trp91Gly)
c.301-65T>G
n.386T>G
c.116T>G (p.Val39Gly)
c.250-416T>G (n.250-416T>G)
n.358T>G
n.291T>G
17g.80214744A>GCA401363221CARD14,SGSHn.2845-1122A>G
c.377T>C (p.Val126Ala)
c.395T>C (p.Val132Ala)
c.412T>C (p.Trp138Arg)
n.375+289T>C
n.397T>C
n.373+289T>C
c.271T>C (p.Trp91Arg)
c.301-65T>C
n.386T>C
c.116T>C (p.Val39Ala)
c.250-416T>C (n.250-416T>C)
n.358T>C
n.291T>C
17g.80214744A>TCA401363216CARD14,SGSHn.2845-1122A>T
c.377T>A (p.Val126Glu)
c.395T>A (p.Val132Glu)
c.412T>A (p.Trp138Arg)
n.375+289T>A
n.397T>A
n.373+289T>A
c.271T>A (p.Trp91Arg)
c.301-65T>A
n.386T>A
c.116T>A (p.Val39Glu)
c.250-416T>A (n.250-416T>A)
n.358T>A
n.291T>A
17g.80214744dupCA913014096CARD14,SGSHn.2845-1122dup
c.377dup (p.Pro128AlafsTer8)
c.395dup (p.Pro134AlafsTer8)
c.412dup (p.Trp138LeufsTer?)
n.375+289dup
n.397dup
n.373+289dup
c.271dup (p.Trp91LeufsTer?)
c.301-65dup
n.386dup
c.116dup (p.Pro41AlafsTer8)
c.250-416dup (n.250-416dup)
n.358dup
n.291dup

Number of alleles fetched