UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
| 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) | |
| 10 | g.119672358G>C | CA378295436 | BAG3 | c.611G>C (p.Gly204Ala) c.437G>C (p.Gly146Ala) | |
| 10 | g.119672358G= | CA1940193250 | BAG3 | c.611G= (p.Gly204=) c.437G= (p.Gly146=) | |
| 10 | g.119672358G>T | CA5716380 | BAG3 | c.611G>T (p.Gly204Val) c.437G>T (p.Gly146Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672359G>A | CA471739754 | BAG3 | c.612G>A (p.Gly204=) c.438G>A (p.Gly146=) | ClinVar dbSNP |
| 10 | g.119672359G>C | CA471739753 | BAG3 | c.612G>C (p.Gly204=) c.438G>C (p.Gly146=) | |
| 10 | g.119672359G>T | CA471739752 | BAG3 | c.612G>T (p.Gly204=) c.438G>T (p.Gly146=) | |
| 10 | g.119672359_119672360delinsGT | CA1940193252 | BAG3 | c.612_613delinsGT (p.Gly204=) c.438_439delinsGT (p.Gly146=) | |
| 10 | g.119672360del | CA915948733 | BAG3 | c.613del (p.Tyr205ThrfsTer6) c.439del (p.Tyr147ThrfsTer6) | |
| 10 | g.119672360T>A | CA378295438 | BAG3 | c.613T>A (p.Tyr205Asn) c.439T>A (p.Tyr147Asn) | |
| 10 | g.119672360T>C | CA5716381 | BAG3 | c.613T>C (p.Tyr205His) c.439T>C (p.Tyr147His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672360T>G | CA378295437 | BAG3 | c.613T>G (p.Tyr205Asp) c.439T>G (p.Tyr147Asp) | dbSNP |
| 10 | g.119672360T= | CA1940193258 | BAG3 | c.613T= (p.Tyr205=) c.439T= (p.Tyr147=) | |
| 10 | g.119672361A= | CA1940193267 | BAG3 | c.614A= (p.Tyr205=) c.440A= (p.Tyr147=) | |
| 10 | g.119672361A>C | CA378295439 | BAG3 | c.614A>C (p.Tyr205Ser) c.440A>C (p.Tyr147Ser) | |
| 10 | g.119672361A>G | CA378295440 | BAG3 | c.614A>G (p.Tyr205Cys) c.440A>G (p.Tyr147Cys) | gnomAD v4 COSMIC |
| 10 | g.119672361A>T | CA5716382 | BAG3 | c.614A>T (p.Tyr205Phe) c.440A>T (p.Tyr147Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 10 | g.119672362C>A | CA378295441 | BAG3 | c.615C>A (p.Tyr205Ter) c.441C>A (p.Tyr147Ter) | |
| 10 | g.119672362C= | CA1940193269 | BAG3 | c.615C= (p.Tyr205=) c.441C= (p.Tyr147=) | |
| 10 | g.119672362C>G | CA378295442 | BAG3 | c.615C>G (p.Tyr205Ter) c.441C>G (p.Tyr147Ter) | |
| 10 | g.119672362C>T | CA214221744 | BAG3 | c.615C>T (p.Tyr205=) c.441C>T (p.Tyr147=) | dbSNP |
| 10 | g.119672363A= | CA1940193279 | BAG3 | c.616A= (p.Ile206=) c.442A= (p.Ile148=) | |
| 10 | g.119672363A>C | CA5716383 | BAG3 | c.616A>C (p.Ile206Leu) c.442A>C (p.Ile148Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672363A>G | CA237049 | BAG3 | c.616A>G (p.Ile206Val) c.442A>G (p.Ile148Val) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672363A>T | CA378295443 | BAG3 | c.616A>T (p.Ile206Phe) c.442A>T (p.Ile148Phe) | gnomAD v4 |
| 10 | g.119672364T>A | CA378295444 | BAG3 | c.617T>A (p.Ile206Asn) c.443T>A (p.Ile148Asn) | |
| 10 | g.119672364T>C | CA378295445 | BAG3 | c.617T>C (p.Ile206Thr) c.443T>C (p.Ile148Thr) | |
| 10 | g.119672364T>G | CA378295446 | BAG3 | c.617T>G (p.Ile206Ser) c.443T>G (p.Ile148Ser) | |
| 10 | g.119672365C>A | CA471739755 | BAG3 | c.618C>A (p.Ile206=) c.444C>A (p.Ile148=) | |
| 10 | g.119672365C= | CA1940193285 | BAG3 | c.618C= (p.Ile206=) c.444C= (p.Ile148=) | |
| 10 | g.119672365C>G | CA378295447 | BAG3 | c.618C>G (p.Ile206Met) c.444C>G (p.Ile148Met) | ClinVar dbSNP |
| 10 | g.119672365C>T | CA471739756 | BAG3 | c.618C>T (p.Ile206=) c.444C>T (p.Ile148=) | |
| 10 | g.119672366T>A | CA378295448 | BAG3 | c.619T>A (p.Ser207Thr) c.445T>A (p.Ser149Thr) | |
| 10 | g.119672366T>C | CA378295449 | BAG3 | c.619T>C (p.Ser207Pro) c.445T>C (p.Ser149Pro) | |
| 10 | g.119672366T>G | CA378295450 | BAG3 | c.619T>G (p.Ser207Ala) c.445T>G (p.Ser149Ala) | |
| 10 | g.119672367C>A | CA378295451 | BAG3 | c.620C>A (p.Ser207Tyr) c.446C>A (p.Ser149Tyr) | dbSNP |
| 10 | g.119672367C= | CA1940193289 | BAG3 | c.620C= (p.Ser207=) c.446C= (p.Ser149=) | |
| 10 | g.119672367C>G | CA378295452 | BAG3 | c.620C>G (p.Ser207Cys) c.446C>G (p.Ser149Cys) | |
| 10 | g.119672367C>T | CA5716384 | BAG3 | c.620C>T (p.Ser207Phe) c.446C>T (p.Ser149Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672368C>A | CA471739757 | BAG3 | c.621C>A (p.Ser207=) c.447C>A (p.Ser149=) | |
| 10 | g.119672368C>G | CA471739758 | BAG3 | c.621C>G (p.Ser207=) c.447C>G (p.Ser149=) | |
| 10 | g.119672368C>T | CA471739759 | BAG3 | c.621C>T (p.Ser207=) c.447C>T (p.Ser149=) | |
| 10 | g.119672369A= | CA1940193295 | BAG3 | c.622A= (p.Ile208=) c.448A= (p.Ile150=) | |
| 10 | g.119672369A>C | CA214221754 | BAG3 | c.622A>C (p.Ile208Leu) c.448A>C (p.Ile150Leu) | ClinVar dbSNP |
| 10 | g.119672369A>G | CA378295453 | BAG3 | c.622A>G (p.Ile208Val) c.448A>G (p.Ile150Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672369A>T | CA378295454 | BAG3 | c.622A>T (p.Ile208Phe) c.448A>T (p.Ile150Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672370T>A | CA378295455 | BAG3 | c.623T>A (p.Ile208Asn) c.449T>A (p.Ile150Asn) | gnomAD v4 |
| 10 | g.119672370T>C | CA378295456 | BAG3 | c.623T>C (p.Ile208Thr) c.449T>C (p.Ile150Thr) | ClinVar dbSNP |
| 10 | g.119672370T>G | CA378295457 | BAG3 | c.623T>G (p.Ile208Ser) c.449T>G (p.Ile150Ser) | |
| 10 | g.119672370T= | CA1940193300 | BAG3 | c.623T= (p.Ile208=) c.449T= (p.Ile150=) | |
| 10 | g.119672371T>A | CA471739760 | BAG3 | c.624T>A (p.Ile208=) c.450T>A (p.Ile150=) | |
| 10 | g.119672371T>C | CA471739761 | BAG3 | c.624T>C (p.Ile208=) c.450T>C (p.Ile150=) | |
| 10 | g.119672371T>G | CA378295458 | BAG3 | c.624T>G (p.Ile208Met) c.450T>G (p.Ile150Met) | COSMIC |
| 10 | g.119672372C>A | CA378295461 | BAG3 | c.625C>A (p.Pro209Thr) c.451C>A (p.Pro151Thr) | |
| 10 | g.119672372C= | CA1940193303 | BAG3 | c.625C= (p.Pro209=) c.451C= (p.Pro151=) | |
| 10 | g.119672372C>G | CA378295460 | BAG3 | c.625C>G (p.Pro209Ala) c.451C>G (p.Pro151Ala) | ClinVar dbSNP |
| 10 | g.119672372C>T | CA378295459 | BAG3 | c.625C>T (p.Pro209Ser) c.451C>T (p.Pro151Ser) | ClinVar dbSNP |
| 10 | g.119672372_119672373delinsTT | CA645568596 | BAG3 | c.625_626delinsTT (p.Pro209Leu) c.451_452delinsTT (p.Pro151Leu) | COSMIC |
| 10 | g.119672373C>A | CA170913 | BAG3 | c.626C>A (p.Pro209Gln) c.452C>A (p.Pro151Gln) | ClinVar dbSNP |
| 10 | g.119672373C= | CA1940193308 | BAG3 | c.626C= (p.Pro209=) c.452C= (p.Pro151=) | |
| 10 | g.119672373C>G | CA378295462 | BAG3 | c.626C>G (p.Pro209Arg) c.452C>G (p.Pro151Arg) | |
| 10 | g.119672373C>T | CA308228 | BAG3 | c.626C>T (p.Pro209Leu) c.452C>T (p.Pro151Leu) | ClinVar dbSNP COSMIC |
| 10 | g.119672374G>A | CA5716385 | BAG3 | c.627G>A (p.Pro209=) c.453G>A (p.Pro151=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672374G>C | CA471739762 | BAG3 | c.627G>C (p.Pro209=) c.453G>C (p.Pro151=) | ClinVar dbSNP |
| 10 | g.119672374G= | CA1940193313 | BAG3 | c.627G= (p.Pro209=) c.453G= (p.Pro151=) | |
| 10 | g.119672374G>T | CA471739763 | BAG3 | c.627G>T (p.Pro209=) c.453G>T (p.Pro151=) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672375G>A | CA378295463 | BAG3 | c.628G>A (p.Val210Met) c.454G>A (p.Val152Met) | |
| 10 | g.119672375G>C | CA378295464 | BAG3 | c.628G>C (p.Val210Leu) c.454G>C (p.Val152Leu) | ClinVar gnomAD v4 |
| 10 | g.119672375G>T | CA378295465 | BAG3 | c.628G>T (p.Val210Leu) c.454G>T (p.Val152Leu) | ClinVar dbSNP |
| 10 | g.119672376T>A | CA378295466 | BAG3 | c.629T>A (p.Val210Glu) c.455T>A (p.Val152Glu) | |
| 10 | g.119672376T>C | CA378295467 | BAG3 | c.629T>C (p.Val210Ala) c.455T>C (p.Val152Ala) | gnomAD v4 |
| 10 | g.119672376T>G | CA378295468 | BAG3 | c.629T>G (p.Val210Gly) c.455T>G (p.Val152Gly) | |
| 10 | g.119672377G>A | CA471739766 | BAG3 | c.630G>A (p.Val210=) c.456G>A (p.Val152=) | |
| 10 | g.119672377G>C | CA471739764 | BAG3 | c.630G>C (p.Val210=) c.456G>C (p.Val152=) | |
| 10 | g.119672377G>T | CA471739765 | BAG3 | c.630G>T (p.Val210=) c.456G>T (p.Val152=) | |
| 10 | g.119672378A>C | CA378295469 | BAG3 | c.631A>C (p.Ile211Leu) c.457A>C (p.Ile153Leu) | |
| 10 | g.119672378A>G | CA378295470 | BAG3 | c.631A>G (p.Ile211Val) c.457A>G (p.Ile153Val) | ClinVar |
| 10 | g.119672378A>T | CA378295471 | BAG3 | c.631A>T (p.Ile211Leu) c.457A>T (p.Ile153Leu) | ClinVar |
| 10 | g.119672379T>A | CA378295474 | BAG3 | c.632T>A (p.Ile211Lys) c.458T>A (p.Ile153Lys) | |
| 10 | g.119672379T>C | CA378295472 | BAG3 | c.632T>C (p.Ile211Thr) c.458T>C (p.Ile153Thr) | |
| 10 | g.119672379T>G | CA378295473 | BAG3 | c.632T>G (p.Ile211Arg) c.458T>G (p.Ile153Arg) | |
| 10 | g.119672380A>C | CA471739768 | BAG3 | c.633A>C (p.Ile211=) c.459A>C (p.Ile153=) | |
| 10 | g.119672380A>G | CA378295475 | BAG3 | c.633A>G (p.Ile211Met) c.459A>G (p.Ile153Met) | |
| 10 | g.119672380A>T | CA471739767 | BAG3 | c.633A>T (p.Ile211=) c.459A>T (p.Ile153=) | |
| 10 | g.119672381C>A | CA378295476 | BAG3 | c.634C>A (p.His212Asn) c.460C>A (p.His154Asn) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672381C= | CA1940193322 | BAG3 | c.634C= (p.His212=) c.460C= (p.His154=) | |
| 10 | g.119672381C>G | CA378295477 | BAG3 | c.634C>G (p.His212Asp) c.460C>G (p.His154Asp) | |
| 10 | g.119672381C>T | CA5716386 | BAG3 | c.634C>T (p.His212Tyr) c.460C>T (p.His154Tyr) | dbSNP ExAC gnomAD v2 |
| 10 | g.119672382A>C | CA378295478 | BAG3 | c.635A>C (p.His212Pro) c.461A>C (p.His154Pro) | |
| 10 | g.119672382A>G | CA378295479 | BAG3 | c.635A>G (p.His212Arg) c.461A>G (p.His154Arg) | |
| 10 | g.119672382A>T | CA378295480 | BAG3 | c.635A>T (p.His212Leu) c.461A>T (p.His154Leu) | |
| 10 | g.119672383C>A | CA378295481 | BAG3 | c.636C>A (p.His212Gln) c.462C>A (p.His154Gln) | |
| 10 | g.119672383C= | CA1940193327 | BAG3 | c.636C= (p.His212=) c.462C= (p.His154=) | |
| 10 | g.119672383C>G | CA378295482 | BAG3 | c.636C>G (p.His212Gln) c.462C>G (p.His154Gln) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119672383C>T | CA5716387 | BAG3 | c.636C>T (p.His212=) c.462C>T (p.His154=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672384G>A | CA378295483 | BAG3 | c.637G>A (p.Glu213Lys) c.463G>A (p.Glu155Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672384G>C | CA378295484 | BAG3 | c.637G>C (p.Glu213Gln) c.463G>C (p.Glu155Gln) | |
| 10 | g.119672384G= | CA1940193333 | BAG3 | c.637G= (p.Glu213=) c.463G= (p.Glu155=) | |
| 10 | g.119672384G>T | CA378295485 | BAG3 | c.637G>T (p.Glu213Ter) c.463G>T (p.Glu155Ter) | |
| 10 | g.119672385A>C | CA378295487 | BAG3 | c.638A>C (p.Glu213Ala) c.464A>C (p.Glu155Ala) | |
| 10 | g.119672385A>G | CA378295488 | BAG3 | c.638A>G (p.Glu213Gly) c.464A>G (p.Glu155Gly) | |
| 10 | g.119672385A>T | CA378295486 | BAG3 | c.638A>T (p.Glu213Val) c.464A>T (p.Glu155Val) | |
| 10 | g.119672388_119672414del | CA2580082424 | BAG3 | c.641_667del (p.Gln214_Gln222del) c.467_493del (p.Gln156_Gln164del) | ClinVar |
| 10 | g.119672386G>A | CA214221763 | BAG3 | c.639G>A (p.Glu213=) c.465G>A (p.Glu155=) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672386G>C | CA378295490 | BAG3 | c.639G>C (p.Glu213Asp) c.465G>C (p.Glu155Asp) | |
| 10 | g.119672386G= | CA1940193336 | BAG3 | c.639G= (p.Glu213=) c.465G= (p.Glu155=) | |
| 10 | g.119672386G>T | CA378295489 | BAG3 | c.639G>T (p.Glu213Asp) c.465G>T (p.Glu155Asp) | |
| 10 | g.119672387C>A | CA378295492 | BAG3 | c.640C>A (p.Gln214Lys) c.466C>A (p.Gln156Lys) | |
| 10 | g.119672387C>G | CA378295491 | BAG3 | c.640C>G (p.Gln214Glu) c.466C>G (p.Gln156Glu) | |
| 10 | g.119672387C>T | CA378295493 | BAG3 | c.640C>T (p.Gln214Ter) c.466C>T (p.Gln156Ter) | ClinVar dbSNP |
| 10 | g.119672388A>C | CA378295494 | BAG3 | c.641A>C (p.Gln214Pro) c.467A>C (p.Gln156Pro) | |
| 10 | g.119672388A>G | CA378295495 | BAG3 | c.641A>G (p.Gln214Arg) c.467A>G (p.Gln156Arg) | |
| 10 | g.119672388A>T | CA378295496 | BAG3 | c.641A>T (p.Gln214Leu) c.467A>T (p.Gln156Leu) | |
| 10 | g.119672389G>A | CA471739776 | BAG3 | c.642G>A (p.Gln214=) c.468G>A (p.Gln156=) | |
| 10 | g.119672389G>C | CA378295497 | BAG3 | c.642G>C (p.Gln214His) c.468G>C (p.Gln156His) | |
| 10 | g.119672389G>T | CA378295498 | BAG3 | c.642G>T (p.Gln214His) c.468G>T (p.Gln156His) | |
| 10 | g.119672390A>C | CA378295501 | BAG3 | c.643A>C (p.Asn215His) c.469A>C (p.Asn157His) | |
| 10 | g.119672390A>G | CA378295500 | BAG3 | c.643A>G (p.Asn215Asp) c.469A>G (p.Asn157Asp) | |
| 10 | g.119672390A>T | CA378295499 | BAG3 | c.643A>T (p.Asn215Tyr) c.469A>T (p.Asn157Tyr) | |
| 10 | g.119672391A>C | CA378295502 | BAG3 | c.644A>C (p.Asn215Thr) c.470A>C (p.Asn157Thr) | |
| 10 | g.119672391A>G | CA378295503 | BAG3 | c.644A>G (p.Asn215Ser) c.470A>G (p.Asn157Ser) | gnomAD v4 |
| 10 | g.119672391A>T | CA378295504 | BAG3 | c.644A>T (p.Asn215Ile) c.470A>T (p.Asn157Ile) | |
| 10 | g.119672392C>A | CA5716388 | BAG3 | c.645C>A (p.Asn215Lys) c.471C>A (p.Asn157Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672392C= | CA1940193341 | BAG3 | c.645C= (p.Asn215=) c.471C= (p.Asn157=) | |
| 10 | g.119672392C>G | CA378295505 | BAG3 | c.645C>G (p.Asn215Lys) c.471C>G (p.Asn157Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672392C>T | CA181168 | BAG3 | c.645C>T (p.Asn215=) c.471C>T (p.Asn157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 10 | g.119672393G>A | CA5716389 | BAG3 | c.646G>A (p.Val216Ile) c.472G>A (p.Val158Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672393G>C | CA378295506 | BAG3 | c.646G>C (p.Val216Leu) c.472G>C (p.Val158Leu) | |
| 10 | g.119672393G= | CA1940193351 | BAG3 | c.646G= (p.Val216=) c.472G= (p.Val158=) | |
| 10 | g.119672393G>T | CA237052 | BAG3 | c.646G>T (p.Val216Phe) c.472G>T (p.Val158Phe) | ClinVar dbSNP |
| 10 | g.119672394T>A | CA378295507 | BAG3 | c.647T>A (p.Val216Asp) c.473T>A (p.Val158Asp) | |
| 10 | g.119672394T>C | CA378295508 | BAG3 | c.647T>C (p.Val216Ala) c.473T>C (p.Val158Ala) | |
| 10 | g.119672394T>G | CA378295509 | BAG3 | c.647T>G (p.Val216Gly) c.473T>G (p.Val158Gly) | |
| 10 | g.119672395T>A | CA471739783 | BAG3 | c.648T>A (p.Val216=) c.474T>A (p.Val158=) | |
| 10 | g.119672395T>C | CA471739785 | BAG3 | c.648T>C (p.Val216=) c.474T>C (p.Val158=) | gnomAD v3 gnomAD v4 |
| 10 | g.119672395T>G | CA471739787 | BAG3 | c.648T>G (p.Val216=) c.474T>G (p.Val158=) | |
| 10 | g.119672396A= | CA1940193358 | BAG3 | c.649A= (p.Thr217=) c.475A= (p.Thr159=) | |
| 10 | g.119672396A>C | CA378295510 | BAG3 | c.649A>C (p.Thr217Pro) c.475A>C (p.Thr159Pro) | dbSNP |
| 10 | g.119672396A>G | CA378295511 | BAG3 | c.649A>G (p.Thr217Ala) c.475A>G (p.Thr159Ala) | |
| 10 | g.119672396A>T | CA378295512 | BAG3 | c.649A>T (p.Thr217Ser) c.475A>T (p.Thr159Ser) | |
| 10 | g.119672396_119672397delinsAC | CA1940193357 | BAG3 | c.649_650delinsAC (p.Thr217=) c.475_476delinsAC (p.Thr159=) | |
| 10 | g.119672397C>A | CA378295513 | BAG3 | c.650C>A (p.Thr217Asn) c.476C>A (p.Thr159Asn) | |
| 10 | g.119672397C= | CA1940193362 | BAG3 | c.650C= (p.Thr217=) c.476C= (p.Thr159=) | |
| 10 | g.119672397C>G | CA378295514 | BAG3 | c.650C>G (p.Thr217Ser) c.476C>G (p.Thr159Ser) | |
| 10 | g.119672397C>T | CA378295515 | BAG3 | c.650C>T (p.Thr217Ile) c.476C>T (p.Thr159Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672399del | CA16609667 | BAG3 | c.652del (p.Arg218GlyfsTer?) c.478del (p.Arg160GlyfsTer?) | ClinVar dbSNP |
| 10 | g.119672398C>A | CA471739790 | BAG3 | c.651C>A (p.Thr217=) c.477C>A (p.Thr159=) | |
| 10 | g.119672398C= | CA1940193363 | BAG3 | c.651C= (p.Thr217=) c.477C= (p.Thr159=) | |
| 10 | g.119672398C>G | CA471739789 | BAG3 | c.651C>G (p.Thr217=) c.477C>G (p.Thr159=) | |
| 10 | g.119672398C>T | CA214221791 | BAG3 | c.651C>T (p.Thr217=) c.477C>T (p.Thr159=) | ClinVar dbSNP gnomAD v4 |
| 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 |
| 10 | g.119672412A>T | CA378295542 | BAG3 | c.665A>T (p.Gln222Leu) c.491A>T (p.Gln164Leu) | |
| 10 | g.119672413G>A | CA471739823 | BAG3 | c.666G>A (p.Gln222=) c.492G>A (p.Gln164=) | |
| 10 | g.119672413G>C | CA378295543 | BAG3 | c.666G>C (p.Gln222His) c.492G>C (p.Gln164His) | |
| 10 | g.119672413G= | CA1940193376 | BAG3 | c.666G= (p.Gln222=) c.492G= (p.Gln164=) | |
| 10 | g.119672413G>T | CA378295544 | BAG3 | c.666G>T (p.Gln222His) c.492G>T (p.Gln164His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672414C>A | CA378295546 | BAG3 | c.667C>A (p.Pro223Thr) c.493C>A (p.Pro165Thr) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672414C= | CA1940193379 | BAG3 | c.667C= (p.Pro223=) c.493C= (p.Pro165=) | |
| 10 | g.119672414C>G | CA378295547 | BAG3 | c.667C>G (p.Pro223Ala) c.493C>G (p.Pro165Ala) | ClinVar gnomAD v4 |
| 10 | g.119672414C>T | CA378295545 | BAG3 | c.667C>T (p.Pro223Ser) c.493C>T (p.Pro165Ser) | |
| 10 | g.119672415C>A | CA378295548 | BAG3 | c.668C>A (p.Pro223His) c.494C>A (p.Pro165His) | |
| 10 | g.119672415C= | CA1940193385 | BAG3 | c.668C= (p.Pro223=) c.494C= (p.Pro165=) | |
| 10 | g.119672415C>G | CA077630 | BAG3 | c.668C>G (p.Pro223Arg) c.494C>G (p.Pro165Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672415C>T | CA5716390 | BAG3 | c.668C>T (p.Pro223Leu) c.494C>T (p.Pro165Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672416C>A | CA471739831 | BAG3 | c.669C>A (p.Pro223=) c.495C>A (p.Pro165=) | |
| 10 | g.119672416C= | CA1940193386 | BAG3 | c.669C= (p.Pro223=) c.495C= (p.Pro165=) | |
| 10 | g.119672416C>G | CA471739833 | BAG3 | c.669C>G (p.Pro223=) c.495C>G (p.Pro165=) | |
| 10 | g.119672416C>T | CA5716391 | BAG3 | c.669C>T (p.Pro223=) c.495C>T (p.Pro165=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672417del | CA2695212862 | BAG3 | c.670del (p.Ser224ProfsTer?) c.496del (p.Ser166ProfsTer?) | |
| 10 | g.119672417T>A | CA378295549 | BAG3 | c.670T>A (p.Ser224Thr) c.496T>A (p.Ser166Thr) | |
| 10 | g.119672417T>C | CA378295550 | BAG3 | c.670T>C (p.Ser224Pro) c.496T>C (p.Ser166Pro) | |
| 10 | g.119672417T>G | CA378295551 | BAG3 | c.670T>G (p.Ser224Ala) c.496T>G (p.Ser166Ala) | |
| 10 | g.119672417dup | CA645372886 | BAG3 | c.670dup (p.Ser224PhefsTer?) c.496dup (p.Ser166PhefsTer?) | ClinVar dbSNP |
| 10 | g.119672418C>A | CA378295552 | BAG3 | c.671C>A (p.Ser224Tyr) c.497C>A (p.Ser166Tyr) | |
| 10 | g.119672418C>G | CA378295554 | BAG3 | c.671C>G (p.Ser224Cys) c.497C>G (p.Ser166Cys) | |
| 10 | g.119672418C>T | CA378295553 | BAG3 | c.671C>T (p.Ser224Phe) c.497C>T (p.Ser166Phe) | |
| 10 | g.119672419C>A | CA471739838 | BAG3 | c.672C>A (p.Ser224=) c.498C>A (p.Ser166=) | |
| 10 | g.119672419C= | CA1940193387 | BAG3 | c.672C= (p.Ser224=) c.498C= (p.Ser166=) | |
| 10 | g.119672419C>G | CA471739839 | BAG3 | c.672C>G (p.Ser224=) c.498C>G (p.Ser166=) | |
| 10 | g.119672419C>T | CA5716392 | BAG3 | c.672C>T (p.Ser224=) c.498C>T (p.Ser166=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672420T>A | CA378295555 | BAG3 | c.673T>A (p.Phe225Ile) c.499T>A (p.Phe167Ile) | |
| 10 | g.119672420T>C | CA378295556 | BAG3 | c.673T>C (p.Phe225Leu) c.499T>C (p.Phe167Leu) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672420T>G | CA378295557 | BAG3 | c.673T>G (p.Phe225Val) c.499T>G (p.Phe167Val) | |
| 10 | g.119672420T= | CA1940193388 | BAG3 | c.673T= (p.Phe225=) c.499T= (p.Phe167=) | |
| 10 | g.119672421T>A | CA378295560 | BAG3 | c.674T>A (p.Phe225Tyr) c.500T>A (p.Phe167Tyr) | |
| 10 | g.119672421T>C | CA378295558 | BAG3 | c.674T>C (p.Phe225Ser) c.500T>C (p.Phe167Ser) | |
| 10 | g.119672421T>G | CA378295559 | BAG3 | c.674T>G (p.Phe225Cys) c.500T>G (p.Phe167Cys) | |
| 10 | g.119672422C>A | CA378295561 | BAG3 | c.675C>A (p.Phe225Leu) c.501C>A (p.Phe167Leu) | |
| 10 | g.119672422C>G | CA378295562 | BAG3 | c.675C>G (p.Phe225Leu) c.501C>G (p.Phe167Leu) | |
| 10 | g.119672422C>T | CA471739847 | BAG3 | c.675C>T (p.Phe225=) c.501C>T (p.Phe167=) | |
| 10 | g.119672423C>A | CA378295563 | BAG3 | c.676C>A (p.His226Asn) c.502C>A (p.His168Asn) | |
| 10 | g.119672423C>G | CA378295564 | BAG3 | c.676C>G (p.His226Asp) c.502C>G (p.His168Asp) | |
| 10 | g.119672423C>T | CA378295565 | BAG3 | c.676C>T (p.His226Tyr) c.502C>T (p.His168Tyr) | |
| 10 | g.119672424A= | CA1940193391 | BAG3 | c.677A= (p.His226=) c.503A= (p.His168=) | |
| 10 | g.119672424A>C | CA378295566 | BAG3 | c.677A>C (p.His226Pro) c.503A>C (p.His168Pro) | |
| 10 | g.119672424A>G | CA378295567 | BAG3 | c.677A>G (p.His226Arg) c.503A>G (p.His168Arg) | ClinVar dbSNP |
| 10 | g.119672424A>T | CA378295568 | BAG3 | c.677A>T (p.His226Leu) c.503A>T (p.His168Leu) | dbSNP |
| 10 | g.119672425C>A | CA378295569 | BAG3 | c.678C>A (p.His226Gln) c.504C>A (p.His168Gln) | |
| 10 | g.119672425C= | CA1940193392 | BAG3 | c.678C= (p.His226=) c.504C= (p.His168=) | |
| 10 | g.119672425C>G | CA378295570 | BAG3 | c.678C>G (p.His226Gln) c.504C>G (p.His168Gln) | |
| 10 | g.119672425C>T | CA471739853 | BAG3 | c.678C>T (p.His226=) c.504C>T (p.His168=) | dbSNP gnomAD v4 |
| 10 | g.119672426C>A | CA378295571 | BAG3 | c.679C>A (p.Gln227Lys) c.505C>A (p.Gln169Lys) | |
| 10 | g.119672426C= | CA1940193393 | BAG3 | c.679C= (p.Gln227=) c.505C= (p.Gln169=) | |
| 10 | g.119672426C>G | CA5716393 | BAG3 | c.679C>G (p.Gln227Glu) c.505C>G (p.Gln169Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672426C>T | CA378295572 | BAG3 | c.679C>T (p.Gln227Ter) c.505C>T (p.Gln169Ter) | |
| 10 | g.119672427A= | CA1940193394 | BAG3 | c.680A= (p.Gln227=) c.506A= (p.Gln169=) | |
| 10 | g.119672427A>C | CA378295573 | BAG3 | c.680A>C (p.Gln227Pro) c.506A>C (p.Gln169Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672427A>G | CA378295575 | BAG3 | c.680A>G (p.Gln227Arg) c.506A>G (p.Gln169Arg) | |
| 10 | g.119672427A>T | CA378295574 | BAG3 | c.680A>T (p.Gln227Leu) c.506A>T (p.Gln169Leu) | |
| 10 | g.119672428A>C | CA378295576 | BAG3 | c.681A>C (p.Gln227His) c.507A>C (p.Gln169His) | |
| 10 | g.119672428A>G | CA471739859 | BAG3 | c.681A>G (p.Gln227=) c.507A>G (p.Gln169=) | |
| 10 | g.119672428A>T | CA378295577 | BAG3 | c.681A>T (p.Gln227His) c.507A>T (p.Gln169His) | |
| 10 | g.119672429G>A | CA378295578 | BAG3 | c.682G>A (p.Ala228Thr) c.508G>A (p.Ala170Thr) | |
| 10 | g.119672429G>C | CA378295579 | BAG3 | c.682G>C (p.Ala228Pro) c.508G>C (p.Ala170Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672429G>T | CA378295580 | BAG3 | c.682G>T (p.Ala228Ser) c.508G>T (p.Ala170Ser) | |
| 10 | g.119672429_119672432del | CA2789704612 | BAG3 | c.682_685del (p.Ala228ArgfsTer?) c.508_511del (p.Ala170ArgfsTer?) | |
| 10 | g.119672430C>A | CA378295581 | BAG3 | c.683C>A (p.Ala228Asp) c.509C>A (p.Ala170Asp) | |
| 10 | g.119672430C= | CA1940193395 | BAG3 | c.683C= (p.Ala228=) c.509C= (p.Ala170=) | |
| 10 | g.119672430C>G | CA214221830 | BAG3 | c.683C>G (p.Ala228Gly) c.509C>G (p.Ala170Gly) | dbSNP |
| 10 | g.119672430C>T | CA378295582 | BAG3 | c.683C>T (p.Ala228Val) c.509C>T (p.Ala170Val) | dbSNP |
| 10 | g.119672431C>A | CA471739865 | BAG3 | c.684C>A (p.Ala228=) c.510C>A (p.Ala170=) | |
| 10 | g.119672431C>G | CA471739867 | BAG3 | c.684C>G (p.Ala228=) c.510C>G (p.Ala170=) | |
| 10 | g.119672431C>T | CA471739866 | BAG3 | c.684C>T (p.Ala228=) c.510C>T (p.Ala170=) | |
| 10 | g.119672432C>A | CA378295583 | BAG3 | c.685C>A (p.Gln229Lys) c.511C>A (p.Gln171Lys) | |
| 10 | g.119672432C>G | CA378295584 | BAG3 | c.685C>G (p.Gln229Glu) c.511C>G (p.Gln171Glu) | |
| 10 | g.119672432C>T | CA378295585 | BAG3 | c.685C>T (p.Gln229Ter) c.511C>T (p.Gln171Ter) | |
| 10 | g.119672433A>C | CA378295586 | BAG3 | c.686A>C (p.Gln229Pro) c.512A>C (p.Gln171Pro) | |
| 10 | g.119672433A>G | CA378295587 | BAG3 | c.686A>G (p.Gln229Arg) c.512A>G (p.Gln171Arg) | |
| 10 | g.119672433A>T | CA378295588 | BAG3 | c.686A>T (p.Gln229Leu) c.512A>T (p.Gln171Leu) | |
| 10 | g.119672434G>A | CA471739874 | BAG3 | c.687G>A (p.Gln229=) c.513G>A (p.Gln171=) | gnomAD v4 |
| 10 | g.119672434G>C | CA378295589 | BAG3 | c.687G>C (p.Gln229His) c.513G>C (p.Gln171His) | |
| 10 | g.119672434G>T | CA378295590 | BAG3 | c.687G>T (p.Gln229His) c.513G>T (p.Gln171His) | |
| 10 | g.119672434_119672440del | CA2789704616 | BAG3 | c.687_693del (p.Gln229HisfsTer?) c.513_519del (p.Gln171HisfsTer?) | |
| 10 | g.119672435A= | CA1940193396 | BAG3 | c.688A= (p.Lys230=) c.514A= (p.Lys172=) | |
| 10 | g.119672435A>C | CA378295591 | BAG3 | c.688A>C (p.Lys230Gln) c.514A>C (p.Lys172Gln) | |
| 10 | g.119672435A>G | CA378295592 | BAG3 | c.688A>G (p.Lys230Glu) c.514A>G (p.Lys172Glu) | dbSNP |
| 10 | g.119672435A>T | CA378295593 | BAG3 | c.688A>T (p.Lys230Ter) c.514A>T (p.Lys172Ter) | |
| 10 | g.119672436A= | CA1940193397 | BAG3 | c.689A= (p.Lys230=) c.515A= (p.Lys172=) | |
| 10 | g.119672436A>C | CA378295594 | BAG3 | c.689A>C (p.Lys230Thr) c.515A>C (p.Lys172Thr) | |
| 10 | g.119672436A>G | CA214221835 | BAG3 | c.689A>G (p.Lys230Arg) c.515A>G (p.Lys172Arg) | dbSNP |
| 10 | g.119672436A>T | CA378295595 | BAG3 | c.689A>T (p.Lys230Met) c.515A>T (p.Lys172Met) | |
| 10 | g.119672437G>A | CA471739882 | BAG3 | c.690G>A (p.Lys230=) c.516G>A (p.Lys172=) | |
| 10 | g.119672437G>C | CA378295596 | BAG3 | c.690G>C (p.Lys230Asn) c.516G>C (p.Lys172Asn) | |
| 10 | g.119672437G>T | CA378295597 | BAG3 | c.690G>T (p.Lys230Asn) c.516G>T (p.Lys172Asn) | |
| 10 | g.119672438A>C | CA378295598 | BAG3 | c.691A>C (p.Thr231Pro) c.517A>C (p.Thr173Pro) | |
| 10 | g.119672438A>G | CA378295599 | BAG3 | c.691A>G (p.Thr231Ala) c.517A>G (p.Thr173Ala) | |
| 10 | g.119672438A>T | CA378295600 | BAG3 | c.691A>T (p.Thr231Ser) c.517A>T (p.Thr173Ser) | |
| 10 | g.119672439C>A | CA378295602 | BAG3 | c.692C>A (p.Thr231Lys) c.518C>A (p.Thr173Lys) | gnomAD v4 |
| 10 | g.119672439C= | CA1940193398 | BAG3 | c.692C= (p.Thr231=) c.518C= (p.Thr173=) | |
| 10 | g.119672439C>G | CA378295601 | BAG3 | c.692C>G (p.Thr231Arg) c.518C>G (p.Thr173Arg) | |
| 10 | g.119672439C>T | CA5716394 | BAG3 | c.692C>T (p.Thr231Met) c.518C>T (p.Thr173Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672440G>A | CA5716395 | BAG3 | c.693G>A (p.Thr231=) c.519G>A (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672440G>C | CA5716396 | BAG3 | c.693G>C (p.Thr231=) c.519G>C (p.Thr173=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672440G= | CA1940193399 | BAG3 | c.693G= (p.Thr231=) c.519G= (p.Thr173=) | |
| 10 | g.119672440G>T | CA471739890 | BAG3 | c.693G>T (p.Thr231=) c.519G>T (p.Thr173=) | gnomAD v4 |
| 10 | g.119672441C>A | CA378295603 | BAG3 | c.694C>A (p.His232Asn) c.520C>A (p.His174Asn) | |
| 10 | g.119672441C>G | CA378295604 | BAG3 | c.694C>G (p.His232Asp) c.520C>G (p.His174Asp) | ClinVar dbSNP |
| 10 | g.119672441C>T | CA378295605 | BAG3 | c.694C>T (p.His232Tyr) c.520C>T (p.His174Tyr) | |
| 10 | g.119672442A= | CA1940193400 | BAG3 | c.695A= (p.His232=) c.521A= (p.His174=) | |
| 10 | g.119672442A>C | CA5716397 | BAG3 | c.695A>C (p.His232Pro) c.521A>C (p.His174Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672442A>G | CA378295606 | BAG3 | c.695A>G (p.His232Arg) c.521A>G (p.His174Arg) | gnomAD v4 |
| 10 | g.119672442A>T | CA10576777 | BAG3 | c.695A>T (p.His232Leu) c.521A>T (p.His174Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672443C>A | CA378295607 | BAG3 | c.696C>A (p.His232Gln) c.522C>A (p.His174Gln) | |
| 10 | g.119672443C>G | CA378295608 | BAG3 | c.696C>G (p.His232Gln) c.522C>G (p.His174Gln) | |
| 10 | g.119672443C>T | CA471739892 | BAG3 | c.696C>T (p.His232=) c.522C>T (p.His174=) | |
| 10 | g.119672444del | CA2789704622 | BAG3 | c.697del (p.Tyr233ThrfsTer?) c.523del (p.Tyr175ThrfsTer?) | |
| 10 | g.119672444T>A | CA378295609 | BAG3 | c.697T>A (p.Tyr233Asn) c.523T>A (p.Tyr175Asn) | |
| 10 | g.119672444T>C | CA378295610 | BAG3 | c.697T>C (p.Tyr233His) c.523T>C (p.Tyr175His) | dbSNP |
| 10 | g.119672444T>G | CA378295611 | BAG3 | c.697T>G (p.Tyr233Asp) c.523T>G (p.Tyr175Asp) | |
| 10 | g.119672444T= | CA1940193401 | BAG3 | c.697T= (p.Tyr233=) c.523T= (p.Tyr175=) | |
| 10 | g.119672445A= | CA1940193402 | BAG3 | c.698A= (p.Tyr233=) c.524A= (p.Tyr175=) | |
| 10 | g.119672445A>C | CA378295612 | BAG3 | c.698A>C (p.Tyr233Ser) c.524A>C (p.Tyr175Ser) | |
| 10 | g.119672445A>G | CA378295613 | BAG3 | c.698A>G (p.Tyr233Cys) c.524A>G (p.Tyr175Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672445A>T | CA378295614 | BAG3 | c.698A>T (p.Tyr233Phe) c.524A>T (p.Tyr175Phe) | |
| 10 | g.119672446C>A | CA10581154 | BAG3 | c.699C>A (p.Tyr233Ter) c.525C>A (p.Tyr175Ter) | ClinVar dbSNP gnomAD v4 |
| 10 | g.119672446C= | CA1940193403 | BAG3 | c.699C= (p.Tyr233=) c.525C= (p.Tyr175=) | |
| 10 | g.119672446C>G | CA378295615 | BAG3 | c.699C>G (p.Tyr233Ter) c.525C>G (p.Tyr175Ter) | |
| 10 | g.119672446C>T | CA471739903 | BAG3 | c.699C>T (p.Tyr233=) c.525C>T (p.Tyr175=) | |
| 10 | g.119672447C>A | CA378295616 | BAG3 | c.700C>A (p.Pro234Thr) c.526C>A (p.Pro176Thr) | |
| 10 | g.119672447C= | CA1940193404 | BAG3 | c.700C= (p.Pro234=) c.526C= (p.Pro176=) | |
| 10 | g.119672447C>G | CA378295617 | BAG3 | c.700C>G (p.Pro234Ala) c.526C>G (p.Pro176Ala) | |
| 10 | g.119672447C>T | CA214221874 | BAG3 | c.700C>T (p.Pro234Ser) c.526C>T (p.Pro176Ser) | dbSNP |
| 10 | g.119672448C>A | CA378295618 | BAG3 | c.701C>A (p.Pro234Gln) c.527C>A (p.Pro176Gln) | |
| 10 | g.119672448C= | CA1940193405 | BAG3 | c.701C= (p.Pro234=) c.527C= (p.Pro176=) | |
| 10 | g.119672448C>G | CA378295619 | BAG3 | c.701C>G (p.Pro234Arg) c.527C>G (p.Pro176Arg) | |
| 10 | g.119672448C>T | CA378295620 | BAG3 | c.701C>T (p.Pro234Leu) c.527C>T (p.Pro176Leu) | dbSNP |
| 10 | g.119672449A>C | CA471739911 | BAG3 | c.702A>C (p.Pro234=) c.528A>C (p.Pro176=) | |
| 10 | g.119672449A>G | CA471739913 | BAG3 | c.702A>G (p.Pro234=) c.528A>G (p.Pro176=) | ClinVar |
| 10 | g.119672449A>T | CA471739914 | BAG3 | c.702A>T (p.Pro234=) c.528A>T (p.Pro176=) | |
| 10 | g.119672450G>A | CA378295621 | BAG3 | c.703G>A (p.Ala235Thr) c.529G>A (p.Ala177Thr) | |
| 10 | g.119672450G>C | CA378295622 | BAG3 | c.703G>C (p.Ala235Pro) c.529G>C (p.Ala177Pro) | |
| 10 | g.119672450G>T | CA378295623 | BAG3 | c.703G>T (p.Ala235Ser) c.529G>T (p.Ala177Ser) | |
| 10 | g.119672451C>A | CA378295624 | BAG3 | c.704C>A (p.Ala235Glu) c.530C>A (p.Ala177Glu) | |
| 10 | g.119672451C= | CA1940193406 | BAG3 | c.704C= (p.Ala235=) c.530C= (p.Ala177=) | |
| 10 | g.119672451C>G | CA378295625 | BAG3 | c.704C>G (p.Ala235Gly) c.530C>G (p.Ala177Gly) | |
| 10 | g.119672451C>T | CA5716398 | BAG3 | c.704C>T (p.Ala235Val) c.530C>T (p.Ala177Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672452G>A | CA5716399 | BAG3 | c.705G>A (p.Ala235=) c.531G>A (p.Ala177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672452G>C | CA471739920 | BAG3 | c.705G>C (p.Ala235=) c.531G>C (p.Ala177=) | |
| 10 | g.119672452G= | CA1940193407 | BAG3 | c.705G= (p.Ala235=) c.531G= (p.Ala177=) | |
| 10 | g.119672452G>T | CA471739921 | BAG3 | c.705G>T (p.Ala235=) c.531G>T (p.Ala177=) | ClinVar dbSNP gnomAD v4 |