| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119672388_119672414del | CA2580082424 | BAG3 | c.641_667del (p.Gln214_Gln222del) c.467_493del (p.Gln156_Gln164del) | ClinVar |
| 10 | g.119672399del | CA16609667 | BAG3 | c.652del (p.Arg218GlyfsTer?) c.478del (p.Arg160GlyfsTer?) | ClinVar dbSNP |
| 10 | g.119672399C>A | CA471739793 | BAG3 | c.652C>A (p.Arg218=) c.478C>A (p.Arg160=) | |
| 10 | g.119672399C= | CA1940193366 | BAG3 | c.652C= (p.Arg218=) c.478C= (p.Arg160=) | |
| 10 | g.119672399C>G | CA378295516 | BAG3 | c.652C>G (p.Arg218Gly) c.478C>G (p.Arg160Gly) | |
| 10 | g.119672399C>T | CA261129 | BAG3 | c.652C>T (p.Arg218Trp) c.478C>T (p.Arg160Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672400G>A | CA183490 | BAG3 | c.653G>A (p.Arg218Gln) c.479G>A (p.Arg160Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672400G>C | CA378295518 | BAG3 | c.653G>C (p.Arg218Pro) c.479G>C (p.Arg160Pro) | |
| 10 | g.119672400G= | CA1940193368 | BAG3 | c.653G= (p.Arg218=) c.479G= (p.Arg160=) | |
| 10 | g.119672400G>T | CA378295517 | BAG3 | c.653G>T (p.Arg218Leu) c.479G>T (p.Arg160Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672401del | CA2499220172 | BAG3 | c.654del (p.Pro219GlnfsTer?) c.480del (p.Pro161GlnfsTer?) | ClinVar dbSNP |
| 10 | g.119672401G>A | CA471739797 | BAG3 | c.654G>A (p.Arg218=) c.480G>A (p.Arg160=) | |
| 10 | g.119672401G>C | CA471739796 | BAG3 | c.654G>C (p.Arg218=) c.480G>C (p.Arg160=) | |
| 10 | g.119672401G>T | CA471739794 | BAG3 | c.654G>T (p.Arg218=) c.480G>T (p.Arg160=) | |
| 10 | g.119672402C>A | CA378295519 | BAG3 | c.655C>A (p.Pro219Thr) c.481C>A (p.Pro161Thr) | |
| 10 | g.119672402C= | CA1940193373 | BAG3 | c.655C= (p.Pro219=) c.481C= (p.Pro161=) | |
| 10 | g.119672402C>G | CA378295520 | BAG3 | c.655C>G (p.Pro219Ala) c.481C>G (p.Pro161Ala) | |
| 10 | g.119672402C>T | CA378295521 | BAG3 | c.655C>T (p.Pro219Ser) c.481C>T (p.Pro161Ser) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672403C>A | CA378295522 | BAG3 | c.656C>A (p.Pro219Gln) c.482C>A (p.Pro161Gln) | |
| 10 | g.119672403C>G | CA378295523 | BAG3 | c.656C>G (p.Pro219Arg) c.482C>G (p.Pro161Arg) | |
| 10 | g.119672403C>T | CA378295524 | BAG3 | c.656C>T (p.Pro219Leu) c.482C>T (p.Pro161Leu) | gnomAD v4 |
| 10 | g.119672404A= | CA1940193374 | BAG3 | c.657A= (p.Pro219=) c.483A= (p.Pro161=) | |
| 10 | g.119672404A>C | CA471739799 | BAG3 | c.657A>C (p.Pro219=) c.483A>C (p.Pro161=) | |
| 10 | g.119672404A>G | CA471739802 | BAG3 | c.657A>G (p.Pro219=) c.483A>G (p.Pro161=) | dbSNP |
| 10 | g.119672404A>T | CA471739800 | BAG3 | c.657A>T (p.Pro219=) c.483A>T (p.Pro161=) | |
| 10 | g.119672405G>A | CA378295525 | BAG3 | c.658G>A (p.Ala220Thr) c.484G>A (p.Ala162Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672405G>C | CA378295526 | BAG3 | c.658G>C (p.Ala220Pro) c.484G>C (p.Ala162Pro) | dbSNP |
| 10 | g.119672405G= | CA1940193375 | BAG3 | c.658G= (p.Ala220=) c.484G= (p.Ala162=) | |
| 10 | g.119672405G>T | CA378295527 | BAG3 | c.658G>T (p.Ala220Ser) c.484G>T (p.Ala162Ser) | |
| 10 | g.119672406C>A | CA378295528 | BAG3 | c.659C>A (p.Ala220Glu) c.485C>A (p.Ala162Glu) | |
| 10 | g.119672406C>G | CA378295529 | BAG3 | c.659C>G (p.Ala220Gly) c.485C>G (p.Ala162Gly) | |
| 10 | g.119672406C>T | CA378295530 | BAG3 | c.659C>T (p.Ala220Val) c.485C>T (p.Ala162Val) | |
| 10 | g.119672407A>C | CA471739806 | BAG3 | c.660A>C (p.Ala220=) c.486A>C (p.Ala162=) | |
| 10 | g.119672407A>G | CA471739807 | BAG3 | c.660A>G (p.Ala220=) c.486A>G (p.Ala162=) | |
| 10 | g.119672407A>T | CA471739809 | BAG3 | c.660A>T (p.Ala220=) c.486A>T (p.Ala162=) | |
| 10 | g.119672408G>A | CA378295533 | BAG3 | c.661G>A (p.Ala221Thr) c.487G>A (p.Ala163Thr) | gnomAD v4 |
| 10 | g.119672408G>C | CA378295531 | BAG3 | c.661G>C (p.Ala221Pro) c.487G>C (p.Ala163Pro) | |
| 10 | g.119672408G>T | CA378295532 | BAG3 | c.661G>T (p.Ala221Ser) c.487G>T (p.Ala163Ser) | |
| 10 | g.119672409C>A | CA378295534 | BAG3 | c.662C>A (p.Ala221Asp) c.488C>A (p.Ala163Asp) | |
| 10 | g.119672409C>G | CA378295535 | BAG3 | c.662C>G (p.Ala221Gly) c.488C>G (p.Ala163Gly) | |
| 10 | g.119672409C>T | CA378295536 | BAG3 | c.662C>T (p.Ala221Val) c.488C>T (p.Ala163Val) | gnomAD v4 |
| 10 | g.119672410C>A | CA471739814 | BAG3 | c.663C>A (p.Ala221=) c.489C>A (p.Ala163=) | |
| 10 | g.119672410C>G | CA471739816 | BAG3 | c.663C>G (p.Ala221=) c.489C>G (p.Ala163=) | gnomAD v4 |
| 10 | g.119672410C>T | CA471739818 | BAG3 | c.663C>T (p.Ala221=) c.489C>T (p.Ala163=) | ClinVar |
| 10 | g.119672411C>A | CA378295537 | BAG3 | c.664C>A (p.Gln222Lys) c.490C>A (p.Gln164Lys) | |
| 10 | g.119672411C>G | CA378295538 | BAG3 | c.664C>G (p.Gln222Glu) c.490C>G (p.Gln164Glu) | |
| 10 | g.119672411C>T | CA378295539 | BAG3 | c.664C>T (p.Gln222Ter) c.490C>T (p.Gln164Ter) | |
| 10 | g.119672412A>C | CA378295540 | BAG3 | c.665A>C (p.Gln222Pro) c.491A>C (p.Gln164Pro) | |
| 10 | g.119672412A>G | CA378295541 | BAG3 | c.665A>G (p.Gln222Arg) c.491A>G (p.Gln164Arg) | ClinVar |