Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.31657231T>ACA363426823APOM,BAG6c.276T>A (p.Asp92Glu)
c.60T>A (p.Asp20Glu)
n.311T>A
c.180T>A (p.Asp60Glu)
c.-14+3090A>T (p.=)
c.-14+533A>T (p.=)
n.317T>A
6g.31657231T>CCA3717972APOM,BAG6c.276T>C (p.Asp92=)
c.60T>C (p.Asp20=)
n.311T>C
c.180T>C (p.Asp60=)
c.-14+3090A>G (p.=)
c.-14+533A>G (p.=)
n.317T>C
dbSNP ExAC gnomAD
6g.31657231T>GCA363426830APOM,BAG6c.276T>G (p.Asp92Glu)
c.60T>G (p.Asp20Glu)
n.311T>G
c.180T>G (p.Asp60Glu)
c.-14+3090A>C (p.=)
c.-14+533A>C (p.=)
n.317T>G
6g.31657231T=CA1619250634APOM,BAG6c.276T= (p.Asp92=)
c.60T= (p.Asp20=)
n.311T=
c.180T= (p.Asp60=)
c.-14+3090A= (p.=)
c.-14+533A= (p.=)
n.317T=
6g.31657232G>ACA363426834APOM,BAG6c.277G>A (p.Gly93Arg)
c.61G>A (p.Gly21Arg)
n.312G>A
c.181G>A (p.Gly61Arg)
c.-14+3089C>T (p.=)
c.-14+532C>T (p.=)
n.318G>A
6g.31657232G>CCA363426839APOM,BAG6c.277G>C (p.Gly93Arg)
c.61G>C (p.Gly21Arg)
n.312G>C
c.181G>C (p.Gly61Arg)
c.-14+3089C>G (p.=)
c.-14+532C>G (p.=)
n.318G>C
6g.31657232G>TCA363426842APOM,BAG6c.277G>T (p.Gly93Trp)
c.61G>T (p.Gly21Trp)
n.312G>T
c.181G>T (p.Gly61Trp)
c.-14+3089C>A (p.=)
c.-14+532C>A (p.=)
n.318G>T
6g.31657233G>ACA363426846APOM,BAG6c.278G>A (p.Gly93Glu)
c.62G>A (p.Gly21Glu)
n.313G>A
c.182G>A (p.Gly61Glu)
c.-14+3088C>T (p.=)
c.-14+531C>T (p.=)
n.319G>A
6g.31657233G>CCA363426850APOM,BAG6c.278G>C (p.Gly93Ala)
c.62G>C (p.Gly21Ala)
n.313G>C
c.182G>C (p.Gly61Ala)
c.-14+3088C>G (p.=)
c.-14+531C>G (p.=)
n.319G>C
6g.31657233G>TCA363426853APOM,BAG6c.278G>T (p.Gly93Val)
c.62G>T (p.Gly21Val)
n.313G>T
c.182G>T (p.Gly61Val)
c.-14+3088C>A (p.=)
c.-14+531C>A (p.=)
n.319G>T
6g.31657233_31657240delinsGGCTCTGTCA1619250635APOM,BAG6c.278_285delinsGGCTCTGT (p.Gly93=)
c.62_69delinsGGCTCTGT (p.Gly21=)
n.313_320delinsGGCTCTGT
c.182_189delinsGGCTCTGT (p.Gly61=)
c.-14+3081_-14+3088delinsACAGAGCC (p.=)
c.-14+524_-14+531delinsACAGAGCC (p.=)
n.319_326delinsGGCTCTGT
6g.31657234G>ACA449666882APOM,BAG6c.279G>A (p.Gly93=)
c.63G>A (p.Gly21=)
n.314G>A
c.183G>A (p.Gly61=)
c.-14+3087C>T (p.=)
c.-14+530C>T (p.=)
n.320G>A
6g.31657234G>CCA449666883APOM,BAG6c.279G>C (p.Gly93=)
c.63G>C (p.Gly21=)
n.314G>C
c.183G>C (p.Gly61=)
c.-14+3087C>G (p.=)
c.-14+530C>G (p.=)
n.320G>C
6g.31657234G>TCA449666884APOM,BAG6c.279G>T (p.Gly93=)
c.63G>T (p.Gly21=)
n.314G>T
c.183G>T (p.Gly61=)
c.-14+3087C>A (p.=)
c.-14+530C>A (p.=)
n.320G>T
6g.31657234_31657236delinsGCTCA1619250636APOM,BAG6c.279_281delinsGCT (p.Gly93=)
c.63_65delinsGCT (p.Gly21=)
n.314_316delinsGCT
c.183_185delinsGCT (p.Gly61=)
c.-14+3085_-14+3087delinsAGC (p.=)
c.-14+528_-14+530delinsAGC (p.=)
n.320_322delinsGCT
6g.31657235_31657241delCA1087477300APOM,BAG6c.280_286del (p.Leu94CysfsTer9)
c.64_70del (p.Leu22CysfsTer9)
n.315_321del
c.184_190del (p.Leu62CysfsTer9)
c.-14+3081_-14+3087del (p.=)
c.-14+524_-14+530del (p.=)
n.321_327del
dbSNP
6g.31657235C>ACA363426856APOM,BAG6c.280C>A (p.Leu94Ile)
c.64C>A (p.Leu22Ile)
n.315C>A
c.184C>A (p.Leu62Ile)
c.-14+3086G>T (p.=)
c.-14+529G>T (p.=)
n.321C>A
6g.31657235C=CA1619250637APOM,BAG6c.280C= (p.Leu94=)
c.64C= (p.Leu22=)
n.315C=
c.184C= (p.Leu62=)
c.-14+3086G= (p.=)
c.-14+529G= (p.=)
n.321C=
6g.31657235C>GCA363426858APOM,BAG6c.280C>G (p.Leu94Val)
c.64C>G (p.Leu22Val)
n.315C>G
c.184C>G (p.Leu62Val)
c.-14+3086G>C (p.=)
c.-14+529G>C (p.=)
n.321C>G
6g.31657235C>TCA3717973APOM,BAG6c.280C>T (p.Leu94Phe)
c.64C>T (p.Leu22Phe)
n.315C>T
c.184C>T (p.Leu62Phe)
c.-14+3086G>A (p.=)
c.-14+529G>A (p.=)
n.321C>T
dbSNP ExAC gnomAD
6g.31657237_31657238delCA566364063APOM,BAG6c.282_283del (p.Val96AlafsTer10)
c.66_67del (p.Val24AlafsTer10)
n.317_318del
c.186_187del (p.Val64AlafsTer10)
c.-14+3085_-14+3086del (p.=)
c.-14+528_-14+529del (p.=)
n.323_324del
dbSNP gnomAD
6g.31657236T>ACA363426863APOM,BAG6c.281T>A (p.Leu94His)
c.65T>A (p.Leu22His)
n.316T>A
c.185T>A (p.Leu62His)
c.-14+3085A>T (p.=)
c.-14+528A>T (p.=)
n.322T>A
6g.31657236T>CCA363426866APOM,BAG6c.281T>C (p.Leu94Pro)
c.65T>C (p.Leu22Pro)
n.316T>C
c.185T>C (p.Leu62Pro)
c.-14+3085A>G (p.=)
c.-14+528A>G (p.=)
n.322T>C
6g.31657236T>GCA363426869APOM,BAG6c.281T>G (p.Leu94Arg)
c.65T>G (p.Leu22Arg)
n.316T>G
c.185T>G (p.Leu62Arg)
c.-14+3085A>C (p.=)
c.-14+528A>C (p.=)
n.322T>G
6g.31657237C>ACA449666888APOM,BAG6c.282C>A (p.Leu94=)
c.66C>A (p.Leu22=)
n.317C>A
c.186C>A (p.Leu62=)
c.-14+3084G>T (p.=)
c.-14+527G>T (p.=)
n.323C>A
6g.31657237C=CA1619250638APOM,BAG6c.282C= (p.Leu94=)
c.66C= (p.Leu22=)
n.317C=
c.186C= (p.Leu62=)
c.-14+3084G= (p.=)
c.-14+527G= (p.=)
n.323C=
6g.31657237C>GCA449666889APOM,BAG6c.282C>G (p.Leu94=)
c.66C>G (p.Leu22=)
n.317C>G
c.186C>G (p.Leu62=)
c.-14+3084G>C (p.=)
c.-14+527G>C (p.=)
n.323C>G
COSMIC COSMIC
6g.31657237C>TCA449666890APOM,BAG6c.282C>T (p.Leu94=)
c.66C>T (p.Leu22=)
n.317C>T
c.186C>T (p.Leu62=)
c.-14+3084G>A (p.=)
c.-14+527G>A (p.=)
n.323C>T
6g.31657238T>ACA363426874APOM,BAG6c.283T>A (p.Cys95Ser)
c.67T>A (p.Cys23Ser)
n.318T>A
c.187T>A (p.Cys63Ser)
c.-14+3083A>T (p.=)
c.-14+526A>T (p.=)
n.324T>A
6g.31657238T>CCA363426875APOM,BAG6c.283T>C (p.Cys95Arg)
c.67T>C (p.Cys23Arg)
n.318T>C
c.187T>C (p.Cys63Arg)
c.-14+3083A>G (p.=)
c.-14+526A>G (p.=)
n.324T>C
6g.31657238T>GCA363426876APOM,BAG6c.283T>G (p.Cys95Gly)
c.67T>G (p.Cys23Gly)
n.318T>G
c.187T>G (p.Cys63Gly)
c.-14+3083A>C (p.=)
c.-14+526A>C (p.=)
n.324T>G
6g.31657239G>ACA363426880APOM,BAG6c.284G>A (p.Cys95Tyr)
c.68G>A (p.Cys23Tyr)
n.319G>A
c.188G>A (p.Cys63Tyr)
c.-14+3082C>T (p.=)
c.-14+525C>T (p.=)
n.325G>A
6g.31657239G>CCA363426877APOM,BAG6c.284G>C (p.Cys95Ser)
c.68G>C (p.Cys23Ser)
n.319G>C
c.188G>C (p.Cys63Ser)
c.-14+3082C>G (p.=)
c.-14+525C>G (p.=)
n.325G>C
6g.31657239G>TCA363426878APOM,BAG6c.284G>T (p.Cys95Phe)
c.68G>T (p.Cys23Phe)
n.319G>T
c.188G>T (p.Cys63Phe)
c.-14+3082C>A (p.=)
c.-14+525C>A (p.=)
n.325G>T
6g.31657240T>ACA363426884APOM,BAG6c.285T>A (p.Cys95Ter)
c.69T>A (p.Cys23Ter)
n.320T>A
c.189T>A (p.Cys63Ter)
c.-14+3081A>T (p.=)
c.-14+524A>T (p.=)
n.326T>A
6g.31657240T>CCA449666891APOM,BAG6c.285T>C (p.Cys95=)
c.69T>C (p.Cys23=)
n.320T>C
c.189T>C (p.Cys63=)
c.-14+3081A>G (p.=)
c.-14+524A>G (p.=)
n.326T>C
6g.31657240T>GCA363426886APOM,BAG6c.285T>G (p.Cys95Trp)
c.69T>G (p.Cys23Trp)
n.320T>G
c.189T>G (p.Cys63Trp)
c.-14+3081A>C (p.=)
c.-14+524A>C (p.=)
n.326T>G
6g.31657241G>ACA363426894APOM,BAG6c.286G>A (p.Val96Met)
c.70G>A (p.Val24Met)
n.321G>A
c.190G>A (p.Val64Met)
c.-14+3080C>T (p.=)
c.-14+523C>T (p.=)
n.327G>A
6g.31657241G>CCA363426896APOM,BAG6c.286G>C (p.Val96Leu)
c.70G>C (p.Val24Leu)
n.321G>C
c.190G>C (p.Val64Leu)
c.-14+3080C>G (p.=)
c.-14+523C>G (p.=)
n.327G>C
6g.31657241G>TCA363426899APOM,BAG6c.286G>T (p.Val96Leu)
c.70G>T (p.Val24Leu)
n.321G>T
c.190G>T (p.Val64Leu)
c.-14+3080C>A (p.=)
c.-14+523C>A (p.=)
n.327G>T
6g.31657242T>ACA363426915APOM,BAG6c.287T>A (p.Val96Glu)
c.71T>A (p.Val24Glu)
n.322T>A
c.191T>A (p.Val64Glu)
c.-14+3079A>T (p.=)
c.-14+522A>T (p.=)
n.328T>A
6g.31657242T>CCA363426904APOM,BAG6c.287T>C (p.Val96Ala)
c.71T>C (p.Val24Ala)
n.322T>C
c.191T>C (p.Val64Ala)
c.-14+3079A>G (p.=)
c.-14+522A>G (p.=)
n.328T>C
6g.31657242T>GCA363426912APOM,BAG6c.287T>G (p.Val96Gly)
c.71T>G (p.Val24Gly)
n.322T>G
c.191T>G (p.Val64Gly)
c.-14+3079A>C (p.=)
c.-14+522A>C (p.=)
n.328T>G
6g.31657243G>ACA3717974APOM,BAG6c.288G>A (p.Val96=)
c.72G>A (p.Val24=)
n.323G>A
c.192G>A (p.Val64=)
c.-14+3078C>T (p.=)
c.-14+521C>T (p.=)
n.329G>A
dbSNP ExAC gnomAD
6g.31657243G>CCA449666893APOM,BAG6c.288G>C (p.Val96=)
c.72G>C (p.Val24=)
n.323G>C
c.192G>C (p.Val64=)
c.-14+3078C>G (p.=)
c.-14+521C>G (p.=)
n.329G>C
6g.31657243G=CA1619250639APOM,BAG6c.288G= (p.Val96=)
c.72G= (p.Val24=)
n.323G=
c.192G= (p.Val64=)
c.-14+3078C= (p.=)
c.-14+521C= (p.=)
n.329G=
6g.31657243G>TCA449666894APOM,BAG6c.288G>T (p.Val96=)
c.72G>T (p.Val24=)
n.323G>T
c.192G>T (p.Val64=)
c.-14+3078C>A (p.=)
c.-14+521C>A (p.=)
n.329G>T
6g.31657244C>ACA363426921APOM,BAG6c.289C>A (p.Pro97Thr)
c.73C>A (p.Pro25Thr)
n.324C>A
c.193C>A (p.Pro65Thr)
c.-14+3077G>T (p.=)
c.-14+520G>T (p.=)
n.330C>A
6g.31657244C=CA1619250640APOM,BAG6c.289C= (p.Pro97=)
c.73C= (p.Pro25=)
n.324C=
c.193C= (p.Pro65=)
c.-14+3077G= (p.=)
c.-14+520G= (p.=)
n.330C=
6g.31657244C>GCA363426929APOM,BAG6c.289C>G (p.Pro97Ala)
c.73C>G (p.Pro25Ala)
n.324C>G
c.193C>G (p.Pro65Ala)
c.-14+3077G>C (p.=)
c.-14+520G>C (p.=)
n.330C>G

Number of alleles fetched