Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672186G= | CA1940192895 | BAG3 | c.508-69G= (n.508-69G=) c.334-69G= (n.334-69G=) | |
10 | g.119672186G>T | CA214221515 | BAG3 | c.508-69G>T (n.508-69G>T) c.334-69G>T (n.334-69G>T) | dbSNP gnomAD v4 |
10 | g.119672187C>A | CA2611160071 | BAG3 | c.508-68C>A (n.508-68C>A) c.334-68C>A (n.334-68C>A) | gnomAD v4 |
10 | g.119672187C= | CA1940192898 | BAG3 | c.508-68C= (n.508-68C=) c.334-68C= (n.334-68C=) | |
10 | g.119672187C>T | CA214221517 | BAG3 | c.508-68C>T (n.508-68C>T) c.334-68C>T (n.334-68C>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672188G>A | CA214221523 | BAG3 | c.508-67G>A (n.508-67G>A) c.334-67G>A (n.334-67G>A) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672188G= | CA1940192900 | BAG3 | c.508-67G= (n.508-67G=) c.334-67G= (n.334-67G=) | |
10 | g.119672189T>C | CA933133563 | BAG3 | c.508-66T>C (n.508-66T>C) c.334-66T>C (n.334-66T>C) | dbSNP gnomAD v4 |
10 | g.119672189T= | CA1940192902 | BAG3 | c.508-66T= (n.508-66T=) c.334-66T= (n.334-66T=) | |
10 | g.119672190G>A | CA214221526 | BAG3 | c.508-65G>A (n.508-65G>A) c.334-65G>A (n.334-65G>A) | dbSNP gnomAD v4 |
10 | g.119672190G= | CA1940192903 | BAG3 | c.508-65G= (n.508-65G=) c.334-65G= (n.334-65G=) | |
10 | g.119672191G>A | CA660664699 | BAG3 | c.508-64G>A (n.508-64G>A) c.334-64G>A (n.334-64G>A) | dbSNP gnomAD v4 |
10 | g.119672191G= | CA1940192905 | BAG3 | c.508-64G= (n.508-64G=) c.334-64G= (n.334-64G=) | |
10 | g.119672191G>T | CA2611160072 | BAG3 | c.508-64G>T (n.508-64G>T) c.334-64G>T (n.334-64G>T) | gnomAD v4 |
10 | g.119672192T>G | CA933133565 | BAG3 | c.508-63T>G (n.508-63T>G) c.334-63T>G (n.334-63T>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672192T= | CA1940192906 | BAG3 | c.508-63T= (n.508-63T=) c.334-63T= (n.334-63T=) | |
10 | g.119672193C>A | CA2611160073 | BAG3 | c.508-62C>A (n.508-62C>A) c.334-62C>A (n.334-62C>A) | gnomAD v4 |
10 | g.119672193C>G | CA2611160074 | BAG3 | c.508-62C>G (n.508-62C>G) c.334-62C>G (n.334-62C>G) | gnomAD v4 |
10 | g.119672194_119672195delinsAG | CA1940192907 | BAG3 | c.508-61_508-60delinsAG (n.508-61_508-60delinsAG) c.334-61_334-60delinsAG (n.334-61_334-60delinsAG) | |
10 | g.119672195G>T | CA2611160075 | BAG3 | c.508-60G>T (n.508-60G>T) c.334-60G>T (n.334-60G>T) | gnomAD v4 |
10 | g.119672196del | CA660664701 | BAG3 | c.508-59del (n.508-59del) c.334-59del (n.334-59del) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672196G>T | CA2611160076 | BAG3 | c.508-59G>T (n.508-59G>T) c.334-59G>T (n.334-59G>T) | gnomAD v4 |
10 | g.119672197A= | CA1940192908 | BAG3 | c.508-58A= (n.508-58A=) c.334-58A= (n.334-58A=) | |
10 | g.119672197A>G | CA660664708 | BAG3 | c.508-58A>G (n.508-58A>G) c.334-58A>G (n.334-58A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672197A>T | CA2611160077 | BAG3 | c.508-58A>T (n.508-58A>T) c.334-58A>T (n.334-58A>T) | dbSNP gnomAD v4 |
10 | g.119672198_119672204delinsTGCCAAG | CA1940192909 | BAG3 | c.508-57_508-51delinsTGCCAAG (n.508-57_508-51delinsTGCCAAG) c.334-57_334-51delinsTGCCAAG (n.334-57_334-51delinsTGCCAAG) | |
10 | g.119672199G>A | CA1940192913 | BAG3 | c.508-56G>A (n.508-56G>A) c.334-56G>A (n.334-56G>A) | dbSNP gnomAD v4 |
10 | g.119672199G= | CA1940192912 | BAG3 | c.508-56G= (n.508-56G=) c.334-56G= (n.334-56G=) | |
10 | g.119672199G>T | CA2611160078 | BAG3 | c.508-56G>T (n.508-56G>T) c.334-56G>T (n.334-56G>T) | gnomAD v4 |
10 | g.119672199_119672204del | CA1940192911 | BAG3 | c.508-56_508-51del (n.508-56_508-51del) c.334-56_334-51del (n.334-56_334-51del) | dbSNP gnomAD v4 |
10 | g.119672200C>T | CA2611160079 | BAG3 | c.508-55C>T (n.508-55C>T) c.334-55C>T (n.334-55C>T) | gnomAD v4 |
10 | g.119672201C>T | CA2611160080 | BAG3 | c.508-54C>T (n.508-54C>T) c.334-54C>T (n.334-54C>T) | gnomAD v4 |
10 | g.119672202A>C | CA2574457135 | BAG3 | c.508-53A>C (n.508-53A>C) c.334-53A>C (n.334-53A>C) | |
10 | g.119672202A>G | CA2574457136 | BAG3 | c.508-53A>G (n.508-53A>G) c.334-53A>G (n.334-53A>G) | gnomAD v4 |
10 | g.119672203del | CA2611160081 | BAG3 | c.508-52del (n.508-52del) c.334-52del (n.334-52del) | gnomAD v4 |
10 | g.119672202_119672206delinsAAGCC | CA1940192915 | BAG3 | c.508-53_508-49delinsAAGCC (n.508-53_508-49delinsAAGCC) c.334-53_334-49delinsAAGCC (n.334-53_334-49delinsAAGCC) | |
10 | g.119672203A= | CA1940192917 | BAG3 | c.508-52A= (n.508-52A=) c.334-52A= (n.334-52A=) | |
10 | g.119672203A>G | CA660664717 | BAG3 | c.508-52A>G (n.508-52A>G) c.334-52A>G (n.334-52A>G) | dbSNP |
10 | g.119672205_119672208del | CA596578057 | BAG3 | c.508-50_508-47del (n.508-50_508-47del) c.334-50_334-47del (n.334-50_334-47del) | dbSNP gnomAD v2 |
10 | g.119672204G>C | CA2611160082 | BAG3 | c.508-51G>C (n.508-51G>C) c.334-51G>C (n.334-51G>C) | gnomAD v4 |
10 | g.119672204G>T | CA2611160083 | BAG3 | c.508-51G>T (n.508-51G>T) c.334-51G>T (n.334-51G>T) | gnomAD v4 |
10 | g.119672205C>A | CA2611160084 | BAG3 | c.508-50C>A (n.508-50C>A) c.334-50C>A (n.334-50C>A) | gnomAD v4 |
10 | g.119672205C= | CA1940192919 | BAG3 | c.508-50C= (n.508-50C=) c.334-50C= (n.334-50C=) | |
10 | g.119672205C>G | CA214221539 | BAG3 | c.508-50C>G (n.508-50C>G) c.334-50C>G (n.334-50C>G) | dbSNP |
10 | g.119672205C>T | CA5716350 | BAG3 | c.508-50C>T (n.508-50C>T) c.334-50C>T (n.334-50C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672206_119672207delinsCA | CA1940192921 | BAG3 | c.508-49_508-48delinsCA (n.508-49_508-48delinsCA) c.334-49_334-48delinsCA (n.334-49_334-48delinsCA) | |
10 | g.119672206_119672211delinsCAGGGG | CA1940192920 | BAG3 | c.508-49_508-44delinsCAGGGG (n.508-49_508-44delinsCAGGGG) c.334-49_334-44delinsCAGGGG (n.334-49_334-44delinsCAGGGG) | |
10 | g.119672207del | CA5716351 | BAG3 | c.508-48del (n.508-48del) c.334-48del (n.334-48del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672207A= | CA1940192925 | BAG3 | c.508-48A= (n.508-48A=) c.334-48A= (n.334-48A=) | |
10 | g.119672207A>G | CA933133602 | BAG3 | c.508-48A>G (n.508-48A>G) c.334-48A>G (n.334-48A>G) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672207A>T | CA5716353 | BAG3 | c.508-48A>T (n.508-48A>T) c.334-48A>T (n.334-48A>T) | dbSNP ExAC gnomAD v2 |
10 | g.119672209_119672213del | CA5716352 | BAG3 | c.508-46_508-42del (n.508-46_508-42del) c.334-46_334-42del (n.334-46_334-42del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672208G>A | CA2574457137 | BAG3 | c.508-47G>A (n.508-47G>A) c.334-47G>A (n.334-47G>A) | gnomAD v4 |
10 | g.119672208G>T | CA2611160086 | BAG3 | c.508-47G>T (n.508-47G>T) c.334-47G>T (n.334-47G>T) | gnomAD v4 |
10 | g.119672211del | CA2611160085 | BAG3 | c.508-44del (n.508-44del) c.334-44del (n.334-44del) | gnomAD v4 |
10 | g.119672209G>A | CA596578058 | BAG3 | c.508-46G>A (n.508-46G>A) c.334-46G>A (n.334-46G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
10 | g.119672209G= | CA1940192928 | BAG3 | c.508-46G= (n.508-46G=) c.334-46G= (n.334-46G=) | |
10 | g.119672209G>T | CA2574457139 | BAG3 | c.508-46G>T (n.508-46G>T) c.334-46G>T (n.334-46G>T) | gnomAD v4 |
10 | g.119672210G>A | CA596578059 | BAG3 | c.508-45G>A (n.508-45G>A) c.334-45G>A (n.334-45G>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672210G= | CA1940192931 | BAG3 | c.508-45G= (n.508-45G=) c.334-45G= (n.334-45G=) | |
10 | g.119672210G>T | CA1940192932 | BAG3 | c.508-45G>T (n.508-45G>T) c.334-45G>T (n.334-45G>T) | dbSNP gnomAD v4 |
10 | g.119672211G>T | CA2611160087 | BAG3 | c.508-44G>T (n.508-44G>T) c.334-44G>T (n.334-44G>T) | gnomAD v4 |
10 | g.119672212A>C | CA2611160088 | BAG3 | c.508-43A>C (n.508-43A>C) c.334-43A>C (n.334-43A>C) | gnomAD v4 |
10 | g.119672213G>T | CA2611160089 | BAG3 | c.508-42G>T (n.508-42G>T) c.334-42G>T (n.334-42G>T) | gnomAD v4 |
10 | g.119672214T>G | CA2574457140 | BAG3 | c.508-41T>G (n.508-41T>G) c.334-41T>G (n.334-41T>G) | gnomAD v4 |
10 | g.119672215C>A | CA2611160090 | BAG3 | c.508-40C>A (n.508-40C>A) c.334-40C>A (n.334-40C>A) | gnomAD v4 |
10 | g.119672215C>T | CA2574457141 | BAG3 | c.508-40C>T (n.508-40C>T) c.334-40C>T (n.334-40C>T) | |
10 | g.119672216A= | CA1940192934 | BAG3 | c.508-39A= (n.508-39A=) c.334-39A= (n.334-39A=) | |
10 | g.119672216A>G | CA214221577 | BAG3 | c.508-39A>G (n.508-39A>G) c.334-39A>G (n.334-39A>G) | dbSNP |
10 | g.119672218T>C | CA1940192937 | BAG3 | c.508-37T>C (n.508-37T>C) c.334-37T>C (n.334-37T>C) | dbSNP |
10 | g.119672218T= | CA1940192936 | BAG3 | c.508-37T= (n.508-37T=) c.334-37T= (n.334-37T=) | |
10 | g.119672220G>A | CA5716354 | BAG3 | c.508-35G>A (n.508-35G>A) c.334-35G>A (n.334-35G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672220G= | CA1940192939 | BAG3 | c.508-35G= (n.508-35G=) c.334-35G= (n.334-35G=) | |
10 | g.119672220G>T | CA596578060 | BAG3 | c.508-35G>T (n.508-35G>T) c.334-35G>T (n.334-35G>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672222G>C | CA2611160091 | BAG3 | c.508-33G>C (n.508-33G>C) c.334-33G>C (n.334-33G>C) | gnomAD v4 |
10 | g.119672223G>T | CA2611160092 | BAG3 | c.508-32G>T (n.508-32G>T) c.334-32G>T (n.334-32G>T) | gnomAD v4 |
10 | g.119672224G>A | CA1940192942 | BAG3 | c.508-31G>A (n.508-31G>A) c.334-31G>A (n.334-31G>A) | dbSNP gnomAD v4 |
10 | g.119672224G= | CA1940192941 | BAG3 | c.508-31G= (n.508-31G=) c.334-31G= (n.334-31G=) | |
10 | g.119672224G>T | CA1940192944 | BAG3 | c.508-31G>T (n.508-31G>T) c.334-31G>T (n.334-31G>T) | dbSNP gnomAD v4 |
10 | g.119672225G>C | CA2611160093 | BAG3 | c.508-30G>C (n.508-30G>C) c.334-30G>C (n.334-30G>C) | gnomAD v4 |
10 | g.119672225G>T | CA2789704548 | BAG3 | c.508-30G>T (n.508-30G>T) c.334-30G>T (n.334-30G>T) | |
10 | g.119672226T>A | CA2611160094 | BAG3 | c.508-29T>A (n.508-29T>A) c.334-29T>A (n.334-29T>A) | gnomAD v4 |
10 | g.119672227C>A | CA2611160095 | BAG3 | c.508-28C>A (n.508-28C>A) c.334-28C>A (n.334-28C>A) | gnomAD v4 |
10 | g.119672227C>T | CA2611160096 | BAG3 | c.508-28C>T (n.508-28C>T) c.334-28C>T (n.334-28C>T) | gnomAD v4 |
10 | g.119672228A= | CA1940192945 | BAG3 | c.508-27A= (n.508-27A=) c.334-27A= (n.334-27A=) | |
10 | g.119672228A>G | CA2574457142 | BAG3 | c.508-27A>G (n.508-27A>G) c.334-27A>G (n.334-27A>G) | gnomAD v4 |
10 | g.119672228A>T | CA933133617 | BAG3 | c.508-27A>T (n.508-27A>T) c.334-27A>T (n.334-27A>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672229T>C | CA5716355 | BAG3 | c.508-26T>C (n.508-26T>C) c.334-26T>C (n.334-26T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672229T= | CA1940192947 | BAG3 | c.508-26T= (n.508-26T=) c.334-26T= (n.334-26T=) | |
10 | g.119672230G>A | CA5716356 | BAG3 | c.508-25G>A (n.508-25G>A) c.334-25G>A (n.334-25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672230G= | CA1940192950 | BAG3 | c.508-25G= (n.508-25G=) c.334-25G= (n.334-25G=) | |
10 | g.119672230G>T | CA2611160097 | BAG3 | c.508-25G>T (n.508-25G>T) c.334-25G>T (n.334-25G>T) | gnomAD v4 |
10 | g.119672231C>A | CA1940192953 | BAG3 | c.508-24C>A (n.508-24C>A) c.334-24C>A (n.334-24C>A) | dbSNP |
10 | g.119672231C= | CA1940192952 | BAG3 | c.508-24C= (n.508-24C=) c.334-24C= (n.334-24C=) | |
10 | g.119672231C>T | CA2611160098 | BAG3 | c.508-24C>T (n.508-24C>T) c.334-24C>T (n.334-24C>T) | gnomAD v4 |
10 | g.119672232C= | CA1940192955 | BAG3 | c.508-23C= (n.508-23C=) c.334-23C= (n.334-23C=) | |
10 | g.119672232C>T | CA214221595 | BAG3 | c.508-23C>T (n.508-23C>T) c.334-23C>T (n.334-23C>T) | dbSNP |
10 | g.119672233C>A | CA2611160099 | BAG3 | c.508-22C>A (n.508-22C>A) c.334-22C>A (n.334-22C>A) | gnomAD v4 |
10 | g.119672233C>T | CA2611160100 | BAG3 | c.508-22C>T (n.508-22C>T) c.334-22C>T (n.334-22C>T) | gnomAD v4 |
10 | g.119672235C= | CA1940192956 | BAG3 | c.508-20C= (n.508-20C=) c.334-20C= (n.334-20C=) | |
10 | g.119672235C>T | CA596578061 | BAG3 | c.508-20C>T (n.508-20C>T) c.334-20C>T (n.334-20C>T) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672237A= | CA1940192959 | BAG3 | c.508-18A= (n.508-18A=) c.334-18A= (n.334-18A=) | |
10 | g.119672237A>C | CA1940192960 | BAG3 | c.508-18A>C (n.508-18A>C) c.334-18A>C (n.334-18A>C) | dbSNP |
10 | g.119672237A>T | CA214221598 | BAG3 | c.508-18A>T (n.508-18A>T) c.334-18A>T (n.334-18A>T) | ClinVar dbSNP gnomAD v4 |
10 | g.119672238C= | CA1940192962 | BAG3 | c.508-17C= (n.508-17C=) c.334-17C= (n.334-17C=) | |
10 | g.119672238C>T | CA660664751 | BAG3 | c.508-17C>T (n.508-17C>T) c.334-17C>T (n.334-17C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672241_119672261del | CA2573145586 | BAG3 | c.508-14_514del c.334-14_340del | ClinVar dbSNP |
10 | g.119672239C>A | CA5716357 | BAG3 | c.508-16C>A (n.508-16C>A) c.334-16C>A (n.334-16C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672239C= | CA1940192964 | BAG3 | c.508-16C= (n.508-16C=) c.334-16C= (n.334-16C=) | |
10 | g.119672239_119672241delinsCCT | CA1940192965 | BAG3 | c.508-16_508-14delinsCCT (n.508-16_508-14delinsCCT) c.334-16_334-14delinsCCT (n.334-16_334-14delinsCCT) | |
10 | g.119672240_119672241del | CA1940192966 | BAG3 | c.508-15_508-14del (n.508-15_508-14del) c.334-15_334-14del (n.334-15_334-14del) | dbSNP gnomAD v4 |
10 | g.119672241T>G | CA1940192968 | BAG3 | c.508-14T>G (n.508-14T>G) c.334-14T>G (n.334-14T>G) | dbSNP |
10 | g.119672241T= | CA1940192967 | BAG3 | c.508-14T= (n.508-14T=) c.334-14T= (n.334-14T=) | |
10 | g.119672244G>A | CA2611160101 | BAG3 | c.508-11G>A (n.508-11G>A) c.334-11G>A (n.334-11G>A) | gnomAD v4 |
10 | g.119672244_119672246delinsGTC | CA1940192970 | BAG3 | c.508-11_508-9delinsGTC (n.508-11_508-9delinsGTC) c.334-11_334-9delinsGTC (n.334-11_334-9delinsGTC) | |
10 | g.119672245T>C | CA2611160102 | BAG3 | c.508-10T>C (n.508-10T>C) c.334-10T>C (n.334-10T>C) | gnomAD v4 |
10 | g.119672248_119672249del | CA1940192971 | BAG3 | c.508-7_508-6del (n.508-7_508-6del) c.334-7_334-6del (n.334-7_334-6del) | ClinVar dbSNP gnomAD v4 |
10 | g.119672246C= | CA1940192973 | BAG3 | c.508-9C= (n.508-9C=) c.334-9C= (n.334-9C=) | |
10 | g.119672246C>G | CA596578062 | BAG3 | c.508-9C>G (n.508-9C>G) c.334-9C>G (n.334-9C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672248C= | CA1940192975 | BAG3 | c.508-7C= (n.508-7C=) c.334-7C= (n.334-7C=) | |
10 | g.119672248C>G | CA596578063 | BAG3 | c.508-7C>G (n.508-7C>G) c.334-7C>G (n.334-7C>G) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672248C>T | CA214221599 | BAG3 | c.508-7C>T (n.508-7C>T) c.334-7C>T (n.334-7C>T) | dbSNP |
10 | g.119672249T= | CA1940192977 | BAG3 | c.508-6T= (n.508-6T=) c.334-6T= (n.334-6T=) | |
10 | g.119672250T>C | CA2611160103 | BAG3 | c.508-5T>C (n.508-5T>C) c.334-5T>C (n.334-5T>C) | gnomAD v4 |
10 | g.119672250T= | CA1940192980 | BAG3 | c.508-5T= (n.508-5T=) c.334-5T= (n.334-5T=) | |
10 | g.119672251_119672266dup | CA1940192978 | BAG3 | c.508-4_519dup c.334-4_345dup | ClinVar dbSNP |
10 | g.119672251G= | CA1940192989 | BAG3 | c.508-4G= (n.508-4G=) c.334-4G= (n.334-4G=) | |
10 | g.119672251G>T | CA660664773 | BAG3 | c.508-4G>T (n.508-4G>T) c.334-4G>T (n.334-4G>T) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672251dup | CA596578064 | BAG3 | c.508-4dup (n.508-4dup) c.334-4dup (n.334-4dup) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672252C>A | CA596578065 | BAG3 | c.508-3C>A (n.508-3C>A) c.334-3C>A (n.334-3C>A) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672252C= | CA1940192991 | BAG3 | c.508-3C= (n.508-3C=) c.334-3C= (n.334-3C=) | |
10 | g.119672252C>G | CA2573145587 | BAG3 | c.508-3C>G (n.508-3C>G) c.334-3C>G (n.334-3C>G) | ClinVar dbSNP |
10 | g.119672252C>T | CA2611160104 | BAG3 | c.508-3C>T (n.508-3C>T) c.334-3C>T (n.334-3C>T) | gnomAD v4 |
10 | g.119672253A>C | CA378295232 | BAG3 | c.508-2A>C (n.508-2A>C) c.334-2A>C (n.334-2A>C) | |
10 | g.119672253A>G | CA378295233 | BAG3 | c.508-2A>G (n.508-2A>G) c.334-2A>G (n.334-2A>G) | dbSNP |
10 | g.119672253A>T | CA378295234 | BAG3 | c.508-2A>T (n.508-2A>T) c.334-2A>T (n.334-2A>T) | |
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119672254G>A | CA378295237 | BAG3 | c.508-1G>A (n.508-1G>A) c.334-1G>A (n.334-1G>A) | ClinVar |
10 | g.119672254G>C | CA378295236 | BAG3 | c.508-1G>C (n.508-1G>C) c.334-1G>C (n.334-1G>C) | |
10 | g.119672254G>T | CA378295235 | BAG3 | c.508-1G>T (n.508-1G>T) c.334-1G>T (n.334-1G>T) | gnomAD v4 |
10 | g.119672255_119672256del | CA2573053244 | BAG3 | c.508_509del c.334_335del | dbSNP |
10 | g.119672255C>A | CA471739143 | BAG3 | c.508C>A (p.Arg170=) c.334C>A (p.Arg112=) | gnomAD v4 |
10 | g.119672255C= | CA1940192994 | BAG3 | c.508C= (p.Arg170=) c.334C= (p.Arg112=) | |
10 | g.119672255C>G | CA5716358 | BAG3 | c.508C>G (p.Arg170Gly) c.334C>G (p.Arg112Gly) | dbSNP ExAC gnomAD v2 |
10 | g.119672255C>T | CA237046 | BAG3 | c.508C>T (p.Arg170Trp) c.334C>T (p.Arg112Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.119672256G>A | CA5716359 | BAG3 | c.509G>A (p.Arg170Gln) c.335G>A (p.Arg112Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672256G>C | CA378295238 | BAG3 | c.509G>C (p.Arg170Pro) c.335G>C (p.Arg112Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672256G= | CA1940193000 | BAG3 | c.509G= (p.Arg170=) c.335G= (p.Arg112=) | |
10 | g.119672256G>T | CA378295239 | BAG3 | c.509G>T (p.Arg170Leu) c.335G>T (p.Arg112Leu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672257G>A | CA471739144 | BAG3 | c.510G>A (p.Arg170=) c.336G>A (p.Arg112=) | |
10 | g.119672257G>C | CA471739145 | BAG3 | c.510G>C (p.Arg170=) c.336G>C (p.Arg112=) | |
10 | g.119672257G>T | CA471739146 | BAG3 | c.510G>T (p.Arg170=) c.336G>T (p.Arg112=) | gnomAD v4 |
10 | g.119672258T>A | CA378295240 | BAG3 | c.511T>A (p.Ser171Thr) c.337T>A (p.Ser113Thr) | |
10 | g.119672258T>C | CA378295241 | BAG3 | c.511T>C (p.Ser171Pro) c.337T>C (p.Ser113Pro) | |
10 | g.119672258T>G | CA378295242 | BAG3 | c.511T>G (p.Ser171Ala) c.337T>G (p.Ser113Ala) | |
10 | g.119672259C>A | CA378295243 | BAG3 | c.512C>A (p.Ser171Tyr) c.338C>A (p.Ser113Tyr) | ClinVar dbSNP |
10 | g.119672259C= | CA1940193004 | BAG3 | c.512C= (p.Ser171=) c.338C= (p.Ser113=) | |
10 | g.119672259C>G | CA378295244 | BAG3 | c.512C>G (p.Ser171Cys) c.338C>G (p.Ser113Cys) | |
10 | g.119672259C>T | CA308225 | BAG3 | c.512C>T (p.Ser171Phe) c.338C>T (p.Ser113Phe) | ClinVar dbSNP gnomAD v4 |
10 | g.119672260C>A | CA471739148 | BAG3 | c.513C>A (p.Ser171=) c.339C>A (p.Ser113=) | |
10 | g.119672260C= | CA1940193009 | BAG3 | c.513C= (p.Ser171=) c.339C= (p.Ser113=) | |
10 | g.119672260C>G | CA471739147 | BAG3 | c.513C>G (p.Ser171=) c.339C>G (p.Ser113=) | |
10 | g.119672260C>T | CA5716360 | BAG3 | c.513C>T (p.Ser171=) c.339C>T (p.Ser113=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672261C>A | CA378295247 | BAG3 | c.514C>A (p.Gln172Lys) c.340C>A (p.Gln114Lys) | |
10 | g.119672261C= | CA1940193014 | BAG3 | c.514C= (p.Gln172=) c.340C= (p.Gln114=) | |
10 | g.119672261C>G | CA378295246 | BAG3 | c.514C>G (p.Gln172Glu) c.340C>G (p.Gln114Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672261C>T | CA378295245 | BAG3 | c.514C>T (p.Gln172Ter) c.340C>T (p.Gln114Ter) | ClinVar dbSNP |
10 | g.119672262A= | CA1940193018 | BAG3 | c.515A= (p.Gln172=) c.341A= (p.Gln114=) | |
10 | g.119672262A>C | CA378295248 | BAG3 | c.515A>C (p.Gln172Pro) c.341A>C (p.Gln114Pro) | |
10 | g.119672262A>G | CA378295249 | BAG3 | c.515A>G (p.Gln172Arg) c.341A>G (p.Gln114Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672262A>T | CA378295250 | BAG3 | c.515A>T (p.Gln172Leu) c.341A>T (p.Gln114Leu) | |
10 | g.119672263G>A | CA5716361 | BAG3 | c.516G>A (p.Gln172=) c.342G>A (p.Gln114=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672263G>C | CA378295251 | BAG3 | c.516G>C (p.Gln172His) c.342G>C (p.Gln114His) | |
10 | g.119672263G= | CA1940193023 | BAG3 | c.516G= (p.Gln172=) c.342G= (p.Gln114=) | |
10 | g.119672263G>T | CA378295252 | BAG3 | c.516G>T (p.Gln172His) c.342G>T (p.Gln114His) | |
10 | g.119672264T>A | CA378295253 | BAG3 | c.517T>A (p.Ser173Thr) c.343T>A (p.Ser115Thr) | |
10 | g.119672264T>C | CA378295254 | BAG3 | c.517T>C (p.Ser173Pro) c.343T>C (p.Ser115Pro) | |
10 | g.119672264T>G | CA378295255 | BAG3 | c.517T>G (p.Ser173Ala) c.343T>G (p.Ser115Ala) | |
10 | g.119672265C>A | CA378295256 | BAG3 | c.518C>A (p.Ser173Tyr) c.344C>A (p.Ser115Tyr) | |
10 | g.119672265C= | CA1940193025 | BAG3 | c.518C= (p.Ser173=) c.344C= (p.Ser115=) | |
10 | g.119672265C>G | CA5716362 | BAG3 | c.518C>G (p.Ser173Cys) c.344C>G (p.Ser115Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672265C>T | CA378295257 | BAG3 | c.518C>T (p.Ser173Phe) c.344C>T (p.Ser115Phe) | |
10 | g.119672266T>A | CA471739149 | BAG3 | c.519T>A (p.Ser173=) c.345T>A (p.Ser115=) | ClinVar |
10 | g.119672266T>C | CA471739150 | BAG3 | c.519T>C (p.Ser173=) c.345T>C (p.Ser115=) | |
10 | g.119672266T>G | CA471739151 | BAG3 | c.519T>G (p.Ser173=) c.345T>G (p.Ser115=) | |
10 | g.119672267C>A | CA378295259 | BAG3 | c.520C>A (p.Pro174Thr) c.346C>A (p.Pro116Thr) | |
10 | g.119672267C= | CA1940193031 | BAG3 | c.520C= (p.Pro174=) c.346C= (p.Pro116=) | |
10 | g.119672267C>G | CA378295258 | BAG3 | c.520C>G (p.Pro174Ala) c.346C>G (p.Pro116Ala) | ClinVar |
10 | g.119672267C>T | CA16622105 | BAG3 | c.520C>T (p.Pro174Ser) c.346C>T (p.Pro116Ser) | ClinVar dbSNP gnomAD v4 |
10 | g.119672268C>A | CA378295260 | BAG3 | c.521C>A (p.Pro174Gln) c.347C>A (p.Pro116Gln) | |
10 | g.119672268C= | CA1940193033 | BAG3 | c.521C= (p.Pro174=) c.347C= (p.Pro116=) | |
10 | g.119672268C>G | CA378295261 | BAG3 | c.521C>G (p.Pro174Arg) c.347C>G (p.Pro116Arg) | |
10 | g.119672268C>T | CA378295262 | BAG3 | c.521C>T (p.Pro174Leu) c.347C>T (p.Pro116Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119672269A= | CA1940193035 | BAG3 | c.522A= (p.Pro174=) c.348A= (p.Pro116=) | |
10 | g.119672269A>C | CA471739152 | BAG3 | c.522A>C (p.Pro174=) c.348A>C (p.Pro116=) | dbSNP |
10 | g.119672269A>G | CA471739153 | BAG3 | c.522A>G (p.Pro174=) c.348A>G (p.Pro116=) | |
10 | g.119672269A>T | CA471739154 | BAG3 | c.522A>T (p.Pro174=) c.348A>T (p.Pro116=) | |
10 | g.119672270G>A | CA378295263 | BAG3 | c.523G>A (p.Ala175Thr) c.349G>A (p.Ala117Thr) | |
10 | g.119672270G>C | CA378295264 | BAG3 | c.523G>C (p.Ala175Pro) c.349G>C (p.Ala117Pro) | ClinVar dbSNP gnomAD v4 |
10 | g.119672270G= | CA1940193037 | BAG3 | c.523G= (p.Ala175=) c.349G= (p.Ala117=) | |
10 | g.119672270G>T | CA378295265 | BAG3 | c.523G>T (p.Ala175Ser) c.349G>T (p.Ala117Ser) | |
10 | g.119672271C>A | CA378295266 | BAG3 | c.524C>A (p.Ala175Asp) c.350C>A (p.Ala117Asp) | |
10 | g.119672271C= | CA1940193039 | BAG3 | c.524C= (p.Ala175=) c.350C= (p.Ala117=) | |
10 | g.119672271C>G | CA378295267 | BAG3 | c.524C>G (p.Ala175Gly) c.350C>G (p.Ala117Gly) | |
10 | g.119672271C>T | CA378295268 | BAG3 | c.524C>T (p.Ala175Val) c.350C>T (p.Ala117Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672272T>A | CA471739155 | BAG3 | c.525T>A (p.Ala175=) c.351T>A (p.Ala117=) | |
10 | g.119672272T>C | CA471739156 | BAG3 | c.525T>C (p.Ala175=) c.351T>C (p.Ala117=) | |
10 | g.119672272T>G | CA471739157 | BAG3 | c.525T>G (p.Ala175=) c.351T>G (p.Ala117=) | |
10 | g.119672273G>A | CA378295269 | BAG3 | c.526G>A (p.Ala176Thr) c.352G>A (p.Ala118Thr) | |
10 | g.119672273G>C | CA378295270 | BAG3 | c.526G>C (p.Ala176Pro) c.352G>C (p.Ala118Pro) | |
10 | g.119672273G= | CA1940193043 | BAG3 | c.526G= (p.Ala176=) c.352G= (p.Ala118=) | |
10 | g.119672273G>T | CA378295271 | BAG3 | c.526G>T (p.Ala176Ser) c.352G>T (p.Ala118Ser) | dbSNP |
10 | g.119672274C>A | CA378295274 | BAG3 | c.527C>A (p.Ala176Asp) c.353C>A (p.Ala118Asp) | |
10 | g.119672274C= | CA1940193045 | BAG3 | c.527C= (p.Ala176=) c.353C= (p.Ala118=) | |
10 | g.119672274C>G | CA378295273 | BAG3 | c.527C>G (p.Ala176Gly) c.353C>G (p.Ala118Gly) | |
10 | g.119672274C>T | CA378295272 | BAG3 | c.527C>T (p.Ala176Val) c.353C>T (p.Ala118Val) | dbSNP |
10 | g.119672275C>A | CA471739158 | BAG3 | c.528C>A (p.Ala176=) c.354C>A (p.Ala118=) | |
10 | g.119672275C= | CA1940193047 | BAG3 | c.528C= (p.Ala176=) c.354C= (p.Ala118=) | |
10 | g.119672275C>G | CA471739159 | BAG3 | c.528C>G (p.Ala176=) c.354C>G (p.Ala118=) | |
10 | g.119672275C>T | CA214221638 | BAG3 | c.528C>T (p.Ala176=) c.354C>T (p.Ala118=) | ClinVar dbSNP gnomAD v4 |
10 | g.119672277_119672278del | CA2580616877 | BAG3 | c.530_531del (p.Ser177Ter) c.356_357del (p.Ser119Ter) | ClinVar dbSNP |
10 | g.119672276T>A | CA378295276 | BAG3 | c.529T>A (p.Ser177Thr) c.355T>A (p.Ser119Thr) | |
10 | g.119672276T>C | CA378295275 | BAG3 | c.529T>C (p.Ser177Pro) c.355T>C (p.Ser119Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119672276T>G | CA378295277 | BAG3 | c.529T>G (p.Ser177Ala) c.355T>G (p.Ser119Ala) | |
10 | g.119672276T= | CA1940193050 | BAG3 | c.529T= (p.Ser177=) c.355T= (p.Ser119=) | |
10 | g.119672277C>A | CA378295278 | BAG3 | c.530C>A (p.Ser177Tyr) c.356C>A (p.Ser119Tyr) | |
10 | g.119672277C>G | CA378295279 | BAG3 | c.530C>G (p.Ser177Cys) c.356C>G (p.Ser119Cys) | |
10 | g.119672277C>T | CA378295280 | BAG3 | c.530C>T (p.Ser177Phe) c.356C>T (p.Ser119Phe) | |
10 | g.119672278T>A | CA471739160 | BAG3 | c.531T>A (p.Ser177=) c.357T>A (p.Ser119=) | |
10 | g.119672278T>C | CA471739161 | BAG3 | c.531T>C (p.Ser177=) c.357T>C (p.Ser119=) | dbSNP |
10 | g.119672278T>G | CA471739162 | BAG3 | c.531T>G (p.Ser177=) c.357T>G (p.Ser119=) | |
10 | g.119672278dup | CA1139532241 | BAG3 | c.531dup (p.Asp178Ter) c.357dup (p.Asp120Ter) | dbSNP |
10 | g.119672279G>A | CA378295281 | BAG3 | c.532G>A (p.Asp178Asn) c.358G>A (p.Asp120Asn) | |
10 | g.119672279G>C | CA378295282 | BAG3 | c.532G>C (p.Asp178His) c.358G>C (p.Asp120His) | |
10 | g.119672279G>T | CA378295283 | BAG3 | c.532G>T (p.Asp178Tyr) c.358G>T (p.Asp120Tyr) | |
10 | g.119672280A>C | CA378295286 | BAG3 | c.533A>C (p.Asp178Ala) c.359A>C (p.Asp120Ala) | |
10 | g.119672280A>G | CA378295284 | BAG3 | c.533A>G (p.Asp178Gly) c.359A>G (p.Asp120Gly) | ClinVar |
10 | g.119672280A>T | CA378295285 | BAG3 | c.533A>T (p.Asp178Val) c.359A>T (p.Asp120Val) | |
10 | g.119672281C>A | CA378295287 | BAG3 | c.534C>A (p.Asp178Glu) c.360C>A (p.Asp120Glu) | |
10 | g.119672281C= | CA1940193053 | BAG3 | c.534C= (p.Asp178=) c.360C= (p.Asp120=) | |
10 | g.119672281C>G | CA378295288 | BAG3 | c.534C>G (p.Asp178Glu) c.360C>G (p.Asp120Glu) | ClinVar dbSNP |
10 | g.119672281C>T | CA471739163 | BAG3 | c.534C>T (p.Asp178=) c.360C>T (p.Asp120=) | |
10 | g.119672282T>A | CA378295289 | BAG3 | c.535T>A (p.Cys179Ser) c.361T>A (p.Cys121Ser) | ClinVar |
10 | g.119672282T>C | CA378295290 | BAG3 | c.535T>C (p.Cys179Arg) c.361T>C (p.Cys121Arg) | |
10 | g.119672282T>G | CA378295291 | BAG3 | c.535T>G (p.Cys179Gly) c.361T>G (p.Cys121Gly) | |
10 | g.119672283G>A | CA5716363 | BAG3 | c.536G>A (p.Cys179Tyr) c.362G>A (p.Cys121Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119672283G>C | CA378295293 | BAG3 | c.536G>C (p.Cys179Ser) c.362G>C (p.Cys121Ser) | |
10 | g.119672283G= | CA1940193056 | BAG3 | c.536G= (p.Cys179=) c.362G= (p.Cys121=) | |
10 | g.119672283G>T | CA378295292 | BAG3 | c.536G>T (p.Cys179Phe) c.362G>T (p.Cys121Phe) | |
10 | g.119672284C>A | CA378295294 | BAG3 | c.537C>A (p.Cys179Ter) c.363C>A (p.Cys121Ter) | ClinVar dbSNP |
10 | g.119672284C= | CA1940193060 | BAG3 | c.537C= (p.Cys179=) c.363C= (p.Cys121=) | |
10 | g.119672284C>G | CA378295295 | BAG3 | c.537C>G (p.Cys179Trp) c.363C>G (p.Cys121Trp) | ClinVar dbSNP gnomAD v4 |
10 | g.119672284C>T | CA471739164 | BAG3 | c.537C>T (p.Cys179=) c.363C>T (p.Cys121=) | |
10 | g.119672293_119672298dup | CA2611160105 | BAG3 | c.546_551dup (p.Ser184_Ser185insSerSer) c.372_377dup (p.Ser126_Ser127insSerSer) | gnomAD v4 |
10 | g.119672285T>A | CA378295296 | BAG3 | c.538T>A (p.Ser180Thr) c.364T>A (p.Ser122Thr) | |
10 | g.119672285T>C | CA378295297 | BAG3 | c.538T>C (p.Ser180Pro) c.364T>C (p.Ser122Pro) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119672285T>G | CA378295298 | BAG3 | c.538T>G (p.Ser180Ala) c.364T>G (p.Ser122Ala) | ClinVar |
10 | g.119672285_119672307del | CA2611160106 | BAG3 | c.538_560del (p.Ser180ProfsTer?) c.364_386del (p.Ser122ProfsTer?) | gnomAD v4 |