Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119669881del | CA2611159846 | BAG3 | c.211del (p.Arg71GlyfsTer?) c.37del (p.Arg13GlyfsTer?) | gnomAD v4 |
10 | g.119669881C>A | CA471634411 | BAG3 | c.211C>A (p.Arg71=) c.37C>A (p.Arg13=) | |
10 | g.119669881C= | CA1940190814 | BAG3 | c.211C= (p.Arg71=) c.37C= (p.Arg13=) | |
10 | g.119669881C>G | CA378294652 | BAG3 | c.211C>G (p.Arg71Gly) c.37C>G (p.Arg13Gly) | |
10 | g.119669881C>T | CA259788 | BAG3 | c.211C>T (p.Arg71Trp) c.37C>T (p.Arg13Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669882G>A | CA282461 | BAG3 | c.212G>A (p.Arg71Gln) c.38G>A (p.Arg13Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669882G>C | CA378294653 | BAG3 | c.212G>C (p.Arg71Pro) c.38G>C (p.Arg13Pro) | |
10 | g.119669882G= | CA1940190818 | BAG3 | c.212G= (p.Arg71=) c.38G= (p.Arg13=) | |
10 | g.119669882G>T | CA5716267 | BAG3 | c.212G>T (p.Arg71Leu) c.38G>T (p.Arg13Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119669883G>A | CA471634412 | BAG3 | c.213G>A (p.Arg71=) c.39G>A (p.Arg13=) | |
10 | g.119669883G>C | CA471634413 | BAG3 | c.213G>C (p.Arg71=) c.39G>C (p.Arg13=) | |
10 | g.119669883G>T | CA471634414 | BAG3 | c.213G>T (p.Arg71=) c.39G>T (p.Arg13=) | |
10 | g.119669884G>A | CA378294654 | BAG3 | c.214G>A (p.Glu72Lys) c.40G>A (p.Glu14Lys) | dbSNP gnomAD v4 |
10 | g.119669884G>C | CA378294655 | BAG3 | c.214G>C (p.Glu72Gln) c.40G>C (p.Glu14Gln) | |
10 | g.119669884G= | CA1940190821 | BAG3 | c.214G= (p.Glu72=) c.40G= (p.Glu14=) | |
10 | g.119669884G>T | CA378294656 | BAG3 | c.214G>T (p.Glu72Ter) c.40G>T (p.Glu14Ter) | |
10 | g.119669885A>C | CA378294657 | BAG3 | c.215A>C (p.Glu72Ala) c.41A>C (p.Glu14Ala) | |
10 | g.119669885A>G | CA378294658 | BAG3 | c.215A>G (p.Glu72Gly) c.41A>G (p.Glu14Gly) | |
10 | g.119669885A>T | CA378294659 | BAG3 | c.215A>T (p.Glu72Val) c.41A>T (p.Glu14Val) | COSMIC |
10 | g.119669886G>A | CA471634415 | BAG3 | c.216G>A (p.Glu72=) c.42G>A (p.Glu14=) | |
10 | g.119669886G>C | CA378294661 | BAG3 | c.216G>C (p.Glu72Asp) c.42G>C (p.Glu14Asp) | |
10 | g.119669886G>T | CA378294660 | BAG3 | c.216G>T (p.Glu72Asp) c.42G>T (p.Glu14Asp) | |
10 | g.119669887G>A | CA378294662 | BAG3 | c.217G>A (p.Gly73Ser) c.43G>A (p.Gly15Ser) | |
10 | g.119669887G>C | CA378294663 | BAG3 | c.217G>C (p.Gly73Arg) c.43G>C (p.Gly15Arg) | |
10 | g.119669887G>T | CA378294664 | BAG3 | c.217G>T (p.Gly73Cys) c.43G>T (p.Gly15Cys) | |
10 | g.119669888G>A | CA214219689 | BAG3 | c.218G>A (p.Gly73Asp) c.44G>A (p.Gly15Asp) | dbSNP gnomAD v4 |
10 | g.119669888G>C | CA378294665 | BAG3 | c.218G>C (p.Gly73Ala) c.44G>C (p.Gly15Ala) | dbSNP gnomAD v4 |
10 | g.119669888G= | CA1940190823 | BAG3 | c.218G= (p.Gly73=) c.44G= (p.Gly15=) | |
10 | g.119669888G>T | CA378294666 | BAG3 | c.218G>T (p.Gly73Val) c.44G>T (p.Gly15Val) | |
10 | g.119669889C>A | CA471634417 | BAG3 | c.219C>A (p.Gly73=) c.45C>A (p.Gly15=) | |
10 | g.119669889C= | CA1940190825 | BAG3 | c.219C= (p.Gly73=) c.45C= (p.Gly15=) | |
10 | g.119669889C>G | CA471634418 | BAG3 | c.219C>G (p.Gly73=) c.45C>G (p.Gly15=) | |
10 | g.119669889C>T | CA471634419 | BAG3 | c.219C>T (p.Gly73=) c.45C>T (p.Gly15=) | ClinVar dbSNP gnomAD v4 |
10 | g.119669890T>A | CA378294667 | BAG3 | c.220T>A (p.Ser74Thr) c.46T>A (p.Ser16Thr) | |
10 | g.119669890T>C | CA378294668 | BAG3 | c.220T>C (p.Ser74Pro) c.46T>C (p.Ser16Pro) | |
10 | g.119669890T>G | CA378294669 | BAG3 | c.220T>G (p.Ser74Ala) c.46T>G (p.Ser16Ala) | |
10 | g.119669891C>A | CA378294670 | BAG3 | c.221C>A (p.Ser74Tyr) c.47C>A (p.Ser16Tyr) | |
10 | g.119669891C= | CA1940190827 | BAG3 | c.221C= (p.Ser74=) c.47C= (p.Ser16=) | |
10 | g.119669891C>G | CA5716268 | BAG3 | c.221C>G (p.Ser74Cys) c.47C>G (p.Ser16Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119669891C>T | CA378294671 | BAG3 | c.221C>T (p.Ser74Phe) c.47C>T (p.Ser16Phe) | |
10 | g.119669892T>A | CA471634420 | BAG3 | c.222T>A (p.Ser74=) c.48T>A (p.Ser16=) | |
10 | g.119669892T>C | CA471634421 | BAG3 | c.222T>C (p.Ser74=) c.48T>C (p.Ser16=) | |
10 | g.119669892T>G | CA471634422 | BAG3 | c.222T>G (p.Ser74=) c.48T>G (p.Ser16=) | |
10 | g.119669893del | CA2580082414 | BAG3 | c.223del (p.Arg75GlyfsTer?) c.49del (p.Arg17GlyfsTer?) | ClinVar |
10 | g.119669893A= | CA1940190829 | BAG3 | c.223A= (p.Arg75=) c.49A= (p.Arg17=) | |
10 | g.119669893A>C | CA471634423 | BAG3 | c.223A>C (p.Arg75=) c.49A>C (p.Arg17=) | dbSNP |
10 | g.119669893A>G | CA378294672 | BAG3 | c.223A>G (p.Arg75Gly) c.49A>G (p.Arg17Gly) | gnomAD v4 |
10 | g.119669893A>T | CA378294673 | BAG3 | c.223A>T (p.Arg75Trp) c.49A>T (p.Arg17Trp) | |
10 | g.119669894G>A | CA378294674 | BAG3 | c.224G>A (p.Arg75Lys) c.50G>A (p.Arg17Lys) | gnomAD v4 |
10 | g.119669894G>C | CA5716269 | BAG3 | c.224G>C (p.Arg75Thr) c.50G>C (p.Arg17Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |