Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119670131_119670142del | CA2611159847 | BAG3 | c.461_472del (p.Val154_Ala157del) c.287_298del (p.Val96_Ala99del) | gnomAD v4 |
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=) | |
10 | g.119670133G>T | CA378295145 | BAG3 | c.463G>T (p.Ala155Ser) c.289G>T (p.Ala97Ser) | |
10 | g.119670135_119670137dup | CA2697558794 | BAG3 | c.465_467dup (p.Ala156_Ala157insAla) c.291_293dup (p.Ala98_Ala99insAla) | ClinVar |
10 | g.119670134C>A | CA378295146 | BAG3 | c.464C>A (p.Ala155Glu) c.290C>A (p.Ala97Glu) | gnomAD v4 |
10 | g.119670134C= | CA1940191264 | BAG3 | c.464C= (p.Ala155=) c.290C= (p.Ala97=) | |
10 | g.119670134C>G | CA378295147 | BAG3 | c.464C>G (p.Ala155Gly) c.290C>G (p.Ala97Gly) | |
10 | g.119670134C>T | CA378295148 | BAG3 | c.464C>T (p.Ala155Val) c.290C>T (p.Ala97Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670135A= | CA1940191267 | BAG3 | c.465A= (p.Ala155=) c.291A= (p.Ala97=) | |
10 | g.119670135A>C | CA471634594 | BAG3 | c.465A>C (p.Ala155=) c.291A>C (p.Ala97=) | |
10 | g.119670135A>G | CA5716323 | BAG3 | c.465A>G (p.Ala155=) c.291A>G (p.Ala97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670135A>T | CA471634595 | BAG3 | c.465A>T (p.Ala155=) c.291A>T (p.Ala97=) | |
10 | g.119670136G>A | CA378295149 | BAG3 | c.466G>A (p.Ala156Thr) c.292G>A (p.Ala98Thr) | ClinVar |
10 | g.119670136G>C | CA378295151 | BAG3 | c.466G>C (p.Ala156Pro) c.292G>C (p.Ala98Pro) | |
10 | g.119670136G>T | CA378295150 | BAG3 | c.466G>T (p.Ala156Ser) c.292G>T (p.Ala98Ser) | |
10 | g.119670136_119670137insGCG | CA1139661704 | BAG3 | c.466_467insGCG (p.Ala155_Ala156insGly) c.292_293insGCG (p.Ala97_Ala98insGly) | |
10 | g.119670144_119670146dup | CA282470 | BAG3 | c.474_476dup (p.Ala159_Ala160insAla) c.300_302dup (p.Ala101_Ala102insAla) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670144_119670146del | CA912966568 | BAG3 | c.474_476del (p.Ala159del) c.300_302del (p.Ala101del) | ClinVar dbSNP gnomAD v4 |
10 | g.119670137C>A | CA378295152 | BAG3 | c.467C>A (p.Ala156Glu) c.293C>A (p.Ala98Glu) | ClinVar dbSNP gnomAD v4 |
10 | g.119670137C= | CA1940191276 | BAG3 | c.467C= (p.Ala156=) c.293C= (p.Ala98=) | |
10 | g.119670137C>G | CA184149 | BAG3 | c.467C>G (p.Ala156Gly) c.293C>G (p.Ala98Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670137C>T | CA5716324 | BAG3 | c.467C>T (p.Ala156Val) c.293C>T (p.Ala98Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670138G>A | CA5716325 | BAG3 | c.468G>A (p.Ala156=) c.294G>A (p.Ala98=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670138G>C | CA471634596 | BAG3 | c.468G>C (p.Ala156=) c.294G>C (p.Ala98=) | |
10 | g.119670138G= | CA1940191280 | BAG3 | c.468G= (p.Ala156=) c.294G= (p.Ala98=) | |
10 | g.119670138G>T | CA471634597 | BAG3 | c.468G>T (p.Ala156=) c.294G>T (p.Ala98=) | |
10 | g.119670139G>A | CA378295153 | BAG3 | c.469G>A (p.Ala157Thr) c.295G>A (p.Ala99Thr) | |
10 | g.119670139G>C | CA5716326 | BAG3 | c.469G>C (p.Ala157Pro) c.295G>C (p.Ala99Pro) | dbSNP ExAC gnomAD v2 |
10 | g.119670139G= | CA1940191283 | BAG3 | c.469G= (p.Ala157=) c.295G= (p.Ala99=) | |
10 | g.119670139G>T | CA378295154 | BAG3 | c.469G>T (p.Ala157Ser) c.295G>T (p.Ala99Ser) | |
10 | g.119670140C>A | CA378295155 | BAG3 | c.470C>A (p.Ala157Glu) c.296C>A (p.Ala99Glu) | |
10 | g.119670140C= | CA1940191286 | BAG3 | c.470C= (p.Ala157=) c.296C= (p.Ala99=) | |
10 | g.119670140C>G | CA378295156 | BAG3 | c.470C>G (p.Ala157Gly) c.296C>G (p.Ala99Gly) | |
10 | g.119670140C>T | CA5716327 | BAG3 | c.470C>T (p.Ala157Val) c.296C>T (p.Ala99Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670141G>A | CA175291 | BAG3 | c.471G>A (p.Ala157=) c.297G>A (p.Ala99=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670141G>C | CA471634598 | BAG3 | c.471G>C (p.Ala157=) c.297G>C (p.Ala99=) | |
10 | g.119670141G= | CA1940191290 | BAG3 | c.471G= (p.Ala157=) c.297G= (p.Ala99=) | |
10 | g.119670141G>T | CA471634599 | BAG3 | c.471G>T (p.Ala157=) c.297G>T (p.Ala99=) | |
10 | g.119670142G>A | CA378295159 | BAG3 | c.472G>A (p.Ala158Thr) c.298G>A (p.Ala100Thr) | |
10 | g.119670142G>C | CA378295157 | BAG3 | c.472G>C (p.Ala158Pro) c.298G>C (p.Ala100Pro) | |
10 | g.119670142G>T | CA378295158 | BAG3 | c.472G>T (p.Ala158Ser) c.298G>T (p.Ala100Ser) | |
10 | g.119670143C>A | CA378295160 | BAG3 | c.473C>A (p.Ala158Glu) c.299C>A (p.Ala100Glu) | |
10 | g.119670143C= | CA1940191298 | BAG3 | c.473C= (p.Ala158=) c.299C= (p.Ala100=) | |
10 | g.119670143C>G | CA378295161 | BAG3 | c.473C>G (p.Ala158Gly) c.299C>G (p.Ala100Gly) | |
10 | g.119670143C>T | CA5716328 | BAG3 | c.473C>T (p.Ala158Val) c.299C>T (p.Ala100Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119670144G>A | CA214220178 | BAG3 | c.474G>A (p.Ala158=) c.300G>A (p.Ala100=) | ClinVar dbSNP gnomAD v4 |
10 | g.119670144G>C | CA471634600 | BAG3 | c.474G>C (p.Ala158=) c.300G>C (p.Ala100=) |