| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 10 | g.119672346A= | CA1940193218 | BAG3 | c.599A= (p.Gln200=) c.425A= (p.Gln142=) | |
| 10 | g.119672346A>C | CA378295414 | BAG3 | c.599A>C (p.Gln200Pro) c.425A>C (p.Gln142Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672346A>G | CA378295415 | BAG3 | c.599A>G (p.Gln200Arg) c.425A>G (p.Gln142Arg) | dbSNP gnomAD v4 |
| 10 | g.119672346A>T | CA378295416 | BAG3 | c.599A>T (p.Gln200Leu) c.425A>T (p.Gln142Leu) | |
| 10 | g.119672347G>A | CA471739744 | BAG3 | c.600G>A (p.Gln200=) c.426G>A (p.Gln142=) | |
| 10 | g.119672347G>C | CA5716377 | BAG3 | c.600G>C (p.Gln200His) c.426G>C (p.Gln142His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672347G= | CA1940193219 | BAG3 | c.600G= (p.Gln200=) c.426G= (p.Gln142=) | |
| 10 | g.119672347G>T | CA378295417 | BAG3 | c.600G>T (p.Gln200His) c.426G>T (p.Gln142His) | |
| 10 | g.119672348C>A | CA378295418 | BAG3 | c.601C>A (p.Leu201Ile) c.427C>A (p.Leu143Ile) | |
| 10 | g.119672348C>G | CA378295419 | BAG3 | c.601C>G (p.Leu201Val) c.427C>G (p.Leu143Val) | dbSNP gnomAD v4 |
| 10 | g.119672348C>T | CA378295420 | BAG3 | c.601C>T (p.Leu201Phe) c.427C>T (p.Leu143Phe) | gnomAD v4 |
| 10 | g.119672349T>A | CA378295421 | BAG3 | c.602T>A (p.Leu201His) c.428T>A (p.Leu143His) | |
| 10 | g.119672349T>C | CA214221721 | BAG3 | c.602T>C (p.Leu201Pro) c.428T>C (p.Leu143Pro) | dbSNP |
| 10 | g.119672349T>G | CA378295422 | BAG3 | c.602T>G (p.Leu201Arg) c.428T>G (p.Leu143Arg) | dbSNP |
| 10 | g.119672349T= | CA1940193223 | BAG3 | c.602T= (p.Leu201=) c.428T= (p.Leu143=) | |
| 10 | g.119672350C>A | CA471739745 | BAG3 | c.603C>A (p.Leu201=) c.429C>A (p.Leu143=) | |
| 10 | g.119672350C= | CA1940193225 | BAG3 | c.603C= (p.Leu201=) c.429C= (p.Leu143=) | |
| 10 | g.119672350C>G | CA471739746 | BAG3 | c.603C>G (p.Leu201=) c.429C>G (p.Leu143=) | dbSNP |
| 10 | g.119672350C>T | CA471739747 | BAG3 | c.603C>T (p.Leu201=) c.429C>T (p.Leu143=) | |
| 10 | g.119672351C>A | CA378295425 | BAG3 | c.604C>A (p.Pro202Thr) c.430C>A (p.Pro144Thr) | |
| 10 | g.119672351C>G | CA378295424 | BAG3 | c.604C>G (p.Pro202Ala) c.430C>G (p.Pro144Ala) | |
| 10 | g.119672351C>T | CA378295423 | BAG3 | c.604C>T (p.Pro202Ser) c.430C>T (p.Pro144Ser) | |
| 10 | g.119672352C>A | CA378295426 | BAG3 | c.605C>A (p.Pro202Gln) c.431C>A (p.Pro144Gln) | |
| 10 | g.119672352C= | CA1940193229 | BAG3 | c.605C= (p.Pro202=) c.431C= (p.Pro144=) | |
| 10 | g.119672352C>G | CA378295427 | BAG3 | c.605C>G (p.Pro202Arg) c.431C>G (p.Pro144Arg) | |
| 10 | g.119672352C>T | CA5716378 | BAG3 | c.605C>T (p.Pro202Leu) c.431C>T (p.Pro144Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672353G>A | CA5716379 | BAG3 | c.606G>A (p.Pro202=) c.432G>A (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672353G>C | CA471739748 | BAG3 | c.606G>C (p.Pro202=) c.432G>C (p.Pro144=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672353G= | CA1940193232 | BAG3 | c.606G= (p.Pro202=) c.432G= (p.Pro144=) | |
| 10 | g.119672353G>T | CA282473 | BAG3 | c.606G>T (p.Pro202=) c.432G>T (p.Pro144=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672354C>A | CA214221736 | BAG3 | c.607C>A (p.Arg203=) c.433C>A (p.Arg145=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672354C= | CA1940193237 | BAG3 | c.607C= (p.Arg203=) c.433C= (p.Arg145=) | |
| 10 | g.119672354C>G | CA378295428 | BAG3 | c.607C>G (p.Arg203Gly) c.433C>G (p.Arg145Gly) | gnomAD v4 |
| 10 | g.119672354C>T | CA378295429 | BAG3 | c.607C>T (p.Arg203Trp) c.433C>T (p.Arg145Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 10 | g.119672354dup | CA16612935 | BAG3 | c.607dup (p.Arg203ProfsTer?) c.433dup (p.Arg145ProfsTer?) | ClinVar dbSNP |
| 10 | g.119672355G>A | CA16605610 | BAG3 | c.608G>A (p.Arg203Gln) c.434G>A (p.Arg145Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672355G>C | CA378295430 | BAG3 | c.608G>C (p.Arg203Pro) c.434G>C (p.Arg145Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672355G= | CA1940193244 | BAG3 | c.608G= (p.Arg203=) c.434G= (p.Arg145=) | |
| 10 | g.119672355G>T | CA378295431 | BAG3 | c.608G>T (p.Arg203Leu) c.434G>T (p.Arg145Leu) | gnomAD v4 |
| 10 | g.119672359del | CA2573145589 | BAG3 | c.612del (p.Tyr205ThrfsTer6) c.438del (p.Tyr147ThrfsTer6) | ClinVar dbSNP |
| 10 | g.119672356G>A | CA471739750 | BAG3 | c.609G>A (p.Arg203=) c.435G>A (p.Arg145=) | |
| 10 | g.119672356G>C | CA471739751 | BAG3 | c.609G>C (p.Arg203=) c.435G>C (p.Arg145=) | ClinVar dbSNP |
| 10 | g.119672356G= | CA1940193246 | BAG3 | c.609G= (p.Arg203=) c.435G= (p.Arg145=) | |
| 10 | g.119672356G>T | CA471739749 | BAG3 | c.609G>T (p.Arg203=) c.435G>T (p.Arg145=) | |
| 10 | g.119672357G>A | CA378295432 | BAG3 | c.610G>A (p.Gly204Arg) c.436G>A (p.Gly146Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672357G>C | CA378295433 | BAG3 | c.610G>C (p.Gly204Arg) c.436G>C (p.Gly146Arg) | |
| 10 | g.119672357G= | CA1940193249 | BAG3 | c.610G= (p.Gly204=) c.436G= (p.Gly146=) | |
| 10 | g.119672357G>T | CA378295434 | BAG3 | c.610G>T (p.Gly204Trp) c.436G>T (p.Gly146Trp) | |
| 10 | g.119672358G>A | CA378295435 | BAG3 | c.611G>A (p.Gly204Glu) c.437G>A (p.Gly146Glu) |