Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119670121T>A | CA378295121 | BAG3 | c.451T>A (p.Cys151Ser) c.277T>A (p.Cys93Ser) | |
10 | g.119670121T>C | CA282467 | BAG3 | c.451T>C (p.Cys151Arg) c.277T>C (p.Cys93Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670121T>G | CA378295122 | BAG3 | c.451T>G (p.Cys151Gly) c.277T>G (p.Cys93Gly) | gnomAD v4 |
10 | g.119670121T= | CA1630848510 | BAG3 | c.451T= (p.Cys151=) c.277T= (p.Cys93=) | |
10 | g.119670121_119670122delinsCA | CA915948732 | BAG3 | c.451_452delinsCA (p.Cys151His) c.277_278delinsCA (p.Cys93His) | ClinVar |
10 | g.119670122G>A | CA5716320 | BAG3 | c.452G>A (p.Cys151Tyr) c.278G>A (p.Cys93Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670122G>C | CA378295123 | BAG3 | c.452G>C (p.Cys151Ser) c.278G>C (p.Cys93Ser) | |
10 | g.119670122G= | CA1940191228 | BAG3 | c.452G= (p.Cys151=) c.278G= (p.Cys93=) | |
10 | g.119670122G>T | CA378295124 | BAG3 | c.452G>T (p.Cys151Phe) c.278G>T (p.Cys93Phe) | |
10 | g.119670123T>A | CA378295125 | BAG3 | c.453T>A (p.Cys151Ter) c.279T>A (p.Cys93Ter) | |
10 | g.119670123T>C | CA471634587 | BAG3 | c.453T>C (p.Cys151=) c.279T>C (p.Cys93=) | gnomAD v4 |
10 | g.119670123T>G | CA378295126 | BAG3 | c.453T>G (p.Cys151Trp) c.279T>G (p.Cys93Trp) | |
10 | g.119670124G>A | CA378295127 | BAG3 | c.454G>A (p.Gly152Arg) c.280G>A (p.Gly94Arg) | |
10 | g.119670124G>C | CA378295128 | BAG3 | c.454G>C (p.Gly152Arg) c.280G>C (p.Gly94Arg) | |
10 | g.119670124G>T | CA378295129 | BAG3 | c.454G>T (p.Gly152Ter) c.280G>T (p.Gly94Ter) | |
10 | g.119670125G>A | CA378295130 | BAG3 | c.455G>A (p.Gly152Glu) c.281G>A (p.Gly94Glu) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119670125G>C | CA378295131 | BAG3 | c.455G>C (p.Gly152Ala) c.281G>C (p.Gly94Ala) | |
10 | g.119670125G= | CA1940191231 | BAG3 | c.455G= (p.Gly152=) c.281G= (p.Gly94=) | |
10 | g.119670125G>T | CA378295132 | BAG3 | c.455G>T (p.Gly152Val) c.281G>T (p.Gly94Val) | gnomAD v4 |
10 | g.119670126A= | CA1940191235 | BAG3 | c.456A= (p.Gly152=) c.282A= (p.Gly94=) | |
10 | g.119670126A>C | CA471634588 | BAG3 | c.456A>C (p.Gly152=) c.282A>C (p.Gly94=) | |
10 | g.119670126A>G | CA214220098 | BAG3 | c.456A>G (p.Gly152=) c.282A>G (p.Gly94=) | ClinVar dbSNP gnomAD v4 |
10 | g.119670126A>T | CA471634589 | BAG3 | c.456A>T (p.Gly152=) c.282A>T (p.Gly94=) | |
10 | g.119670127C>A | CA378295133 | BAG3 | c.457C>A (p.Gln153Lys) c.283C>A (p.Gln95Lys) | |
10 | g.119670127C= | CA1940191237 | BAG3 | c.457C= (p.Gln153=) c.283C= (p.Gln95=) | |
10 | g.119670127C>G | CA378295134 | BAG3 | c.457C>G (p.Gln153Glu) c.283C>G (p.Gln95Glu) | |
10 | g.119670127C>T | CA378295135 | BAG3 | c.457C>T (p.Gln153Ter) c.283C>T (p.Gln95Ter) | ClinVar dbSNP gnomAD v2 |
10 | g.119670128A>C | CA378295136 | BAG3 | c.458A>C (p.Gln153Pro) c.284A>C (p.Gln95Pro) | |
10 | g.119670128A>G | CA378295137 | BAG3 | c.458A>G (p.Gln153Arg) c.284A>G (p.Gln95Arg) | |
10 | g.119670128A>T | CA378295138 | BAG3 | c.458A>T (p.Gln153Leu) c.284A>T (p.Gln95Leu) | |
10 | g.119670129G>A | CA471634590 | BAG3 | c.459G>A (p.Gln153=) c.285G>A (p.Gln95=) | |
10 | g.119670129G>C | CA5716321 | BAG3 | c.459G>C (p.Gln153His) c.285G>C (p.Gln95His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119670129G= | CA1940191243 | BAG3 | c.459G= (p.Gln153=) c.285G= (p.Gln95=) | |
10 | g.119670129G>T | CA378295139 | BAG3 | c.459G>T (p.Gln153His) c.285G>T (p.Gln95His) | |
10 | g.119670131_119670142del | CA2611159847 | BAG3 | c.461_472del (p.Val154_Ala157del) c.287_298del (p.Val96_Ala99del) | gnomAD v4 |
10 | g.119670130G>A | CA5716322 | BAG3 | c.460G>A (p.Val154Met) c.286G>A (p.Val96Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670130G>C | CA16605989 | BAG3 | c.460G>C (p.Val154Leu) c.286G>C (p.Val96Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670130G= | CA1940191247 | BAG3 | c.460G= (p.Val154=) c.286G= (p.Val96=) | |
10 | g.119670130G>T | CA378295140 | BAG3 | c.460G>T (p.Val154Leu) c.286G>T (p.Val96Leu) | |
10 | g.119670131T>A | CA378295141 | BAG3 | c.461T>A (p.Val154Glu) c.287T>A (p.Val96Glu) | gnomAD v4 |
10 | g.119670131T>C | CA378295142 | BAG3 | c.461T>C (p.Val154Ala) c.287T>C (p.Val96Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119670131T>G | CA378295143 | BAG3 | c.461T>G (p.Val154Gly) c.287T>G (p.Val96Gly) | gnomAD v4 |
10 | g.119670131T= | CA1940191250 | BAG3 | c.461T= (p.Val154=) c.287T= (p.Val96=) | |
10 | g.119670132G>A | CA471634593 | BAG3 | c.462G>A (p.Val154=) c.288G>A (p.Val96=) | |
10 | g.119670132G>C | CA471634591 | BAG3 | c.462G>C (p.Val154=) c.288G>C (p.Val96=) | |
10 | g.119670132G>T | CA471634592 | BAG3 | c.462G>T (p.Val154=) c.288G>T (p.Val96=) | |
10 | g.119670132_119670134dup | CA660663473 | BAG3 | c.462_464dup (p.Ala155_Ala156insAla) c.288_290dup (p.Ala97_Ala98insAla) | ClinVar dbSNP gnomAD v4 |
10 | g.119670133G>A | CA135022 | BAG3 | c.463G>A (p.Ala155Thr) c.289G>A (p.Ala97Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670133G>C | CA378295144 | BAG3 | c.463G>C (p.Ala155Pro) c.289G>C (p.Ala97Pro) | |
10 | g.119670133G= | CA1940191258 | BAG3 | c.463G= (p.Ala155=) c.289G= (p.Ala97=) |