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.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 |
| 10 | g.119672453C>A | CA378295626 | BAG3 | c.706C>A (p.Gln236Lys) c.532C>A (p.Gln178Lys) | |
| 10 | g.119672453C>G | CA378295628 | BAG3 | c.706C>G (p.Gln236Glu) c.532C>G (p.Gln178Glu) | |
| 10 | g.119672453C>T | CA378295627 | BAG3 | c.706C>T (p.Gln236Ter) c.532C>T (p.Gln178Ter) | |
| 10 | g.119672454A= | CA1940193408 | BAG3 | c.707A= (p.Gln236=) c.533A= (p.Gln178=) | |
| 10 | g.119672454A>C | CA378295629 | BAG3 | c.707A>C (p.Gln236Pro) c.533A>C (p.Gln178Pro) | |
| 10 | g.119672454A>G | CA214221883 | BAG3 | c.707A>G (p.Gln236Arg) c.533A>G (p.Gln178Arg) | dbSNP |
| 10 | g.119672454A>T | CA378295630 | BAG3 | c.707A>T (p.Gln236Leu) c.533A>T (p.Gln178Leu) | |
| 10 | g.119672455G>A | CA471739926 | BAG3 | c.708G>A (p.Gln236=) c.534G>A (p.Gln178=) | |
| 10 | g.119672455G>C | CA378295631 | BAG3 | c.708G>C (p.Gln236His) c.534G>C (p.Gln178His) | |
| 10 | g.119672455G>T | CA378295632 | BAG3 | c.708G>T (p.Gln236His) c.534G>T (p.Gln178His) | |
| 10 | g.119672456C>A | CA378295633 | BAG3 | c.709C>A (p.Gln237Lys) c.535C>A (p.Gln179Lys) | |
| 10 | g.119672456C>G | CA378295634 | BAG3 | c.709C>G (p.Gln237Glu) c.535C>G (p.Gln179Glu) | gnomAD v4 |
| 10 | g.119672456C>T | CA378295635 | BAG3 | c.709C>T (p.Gln237Ter) c.535C>T (p.Gln179Ter) | ClinVar dbSNP |
| 10 | g.119672457A= | CA1940193409 | BAG3 | c.710A= (p.Gln237=) c.536A= (p.Gln179=) | |
| 10 | g.119672457A>C | CA378295636 | BAG3 | c.710A>C (p.Gln237Pro) c.536A>C (p.Gln179Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672457A>G | CA378295637 | BAG3 | c.710A>G (p.Gln237Arg) c.536A>G (p.Gln179Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.119672457A>T | CA378295638 | BAG3 | c.710A>T (p.Gln237Leu) c.536A>T (p.Gln179Leu) | |
| 10 | g.119672458G>A | CA471739932 | BAG3 | c.711G>A (p.Gln237=) c.537G>A (p.Gln179=) | |
| 10 | g.119672458G>C | CA378295639 | BAG3 | c.711G>C (p.Gln237His) c.537G>C (p.Gln179His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672458G= | CA1940193410 | BAG3 | c.711G= (p.Gln237=) c.537G= (p.Gln179=) | |
| 10 | g.119672458G>T | CA214221886 | BAG3 | c.711G>T (p.Gln237His) c.537G>T (p.Gln179His) | dbSNP |
| 10 | g.119672459G>A | CA378295642 | BAG3 | c.712G>A (p.Gly238Arg) c.538G>A (p.Gly180Arg) | ClinVar |
| 10 | g.119672459G>C | CA378295640 | BAG3 | c.712G>C (p.Gly238Arg) c.538G>C (p.Gly180Arg) | |
| 10 | g.119672459G>T | CA378295641 | BAG3 | c.712G>T (p.Gly238Trp) c.538G>T (p.Gly180Trp) | |
| 10 | g.119672460G>A | CA378295643 | BAG3 | c.713G>A (p.Gly238Glu) c.539G>A (p.Gly180Glu) | |
| 10 | g.119672460G>C | CA378295644 | BAG3 | c.713G>C (p.Gly238Ala) c.539G>C (p.Gly180Ala) | |
| 10 | g.119672460G>T | CA378295645 | BAG3 | c.713G>T (p.Gly238Val) c.539G>T (p.Gly180Val) | |
| 10 | g.119672461G>A | CA5716400 | BAG3 | c.714G>A (p.Gly238=) c.540G>A (p.Gly180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.119672461G>C | CA471739942 | BAG3 | c.714G>C (p.Gly238=) c.540G>C (p.Gly180=) | dbSNP gnomAD v4 |
| 10 | g.119672461G= | CA1940193411 | BAG3 | c.714G= (p.Gly238=) c.540G= (p.Gly180=) | |
| 10 | g.119672461G>T | CA471739939 | BAG3 | c.714G>T (p.Gly238=) c.540G>T (p.Gly180=) | ClinVar |
| 10 | g.119672462G>A | CA214221891 | BAG3 | c.715G>A (p.Glu239Lys) c.541G>A (p.Glu181Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672462G>C | CA378295646 | BAG3 | c.715G>C (p.Glu239Gln) c.541G>C (p.Glu181Gln) | |
| 10 | g.119672462G= | CA1940193412 | BAG3 | c.715G= (p.Glu239=) c.541G= (p.Glu181=) | |
| 10 | g.119672462G>T | CA378295647 | BAG3 | c.715G>T (p.Glu239Ter) c.541G>T (p.Glu181Ter) | ClinVar dbSNP |
| 10 | g.119672463A>C | CA378295648 | BAG3 | c.716A>C (p.Glu239Ala) c.542A>C (p.Glu181Ala) | |
| 10 | g.119672463A>G | CA378295649 | BAG3 | c.716A>G (p.Glu239Gly) c.542A>G (p.Glu181Gly) | |
| 10 | g.119672463A>T | CA378295650 | BAG3 | c.716A>T (p.Glu239Val) c.542A>T (p.Glu181Val) | |
| 10 | g.119672464G>A | CA471739948 | BAG3 | c.717G>A (p.Glu239=) c.543G>A (p.Glu181=) | |
| 10 | g.119672464G>C | CA378295651 | BAG3 | c.717G>C (p.Glu239Asp) c.543G>C (p.Glu181Asp) | |
| 10 | g.119672464G>T | CA378295652 | BAG3 | c.717G>T (p.Glu239Asp) c.543G>T (p.Glu181Asp) | |
| 10 | g.119672465T>A | CA378295653 | BAG3 | c.718T>A (p.Tyr240Asn) c.544T>A (p.Tyr182Asn) | |
| 10 | g.119672465T>C | CA378295655 | BAG3 | c.718T>C (p.Tyr240His) c.544T>C (p.Tyr182His) | |
| 10 | g.119672465T>G | CA378295654 | BAG3 | c.718T>G (p.Tyr240Asp) c.544T>G (p.Tyr182Asp) | |
| 10 | g.119672466A>C | CA378295656 | BAG3 | c.719A>C (p.Tyr240Ser) c.545A>C (p.Tyr182Ser) | |
| 10 | g.119672466A>G | CA378295658 | BAG3 | c.719A>G (p.Tyr240Cys) c.545A>G (p.Tyr182Cys) | |
| 10 | g.119672466A>T | CA378295657 | BAG3 | c.719A>T (p.Tyr240Phe) c.545A>T (p.Tyr182Phe) | |
| 10 | g.119672467C>A | CA378295659 | BAG3 | c.720C>A (p.Tyr240Ter) c.546C>A (p.Tyr182Ter) | |
| 10 | g.119672467C>G | CA378295660 | BAG3 | c.720C>G (p.Tyr240Ter) c.546C>G (p.Tyr182Ter) | ClinVar gnomAD v4 |
| 10 | g.119672467C>T | CA471739952 | BAG3 | c.720C>T (p.Tyr240=) c.546C>T (p.Tyr182=) | gnomAD v4 |
| 10 | g.119672468C>A | CA378295661 | BAG3 | c.721C>A (p.Gln241Lys) c.547C>A (p.Gln183Lys) | |
| 10 | g.119672468C>G | CA378295662 | BAG3 | c.721C>G (p.Gln241Glu) c.547C>G (p.Gln183Glu) | |
| 10 | g.119672468C>T | CA378295663 | BAG3 | c.721C>T (p.Gln241Ter) c.547C>T (p.Gln183Ter) | |
| 10 | g.119672469A= | CA1940193413 | BAG3 | c.722A= (p.Gln241=) c.548A= (p.Gln183=) | |
| 10 | g.119672469A>C | CA378295664 | BAG3 | c.722A>C (p.Gln241Pro) c.548A>C (p.Gln183Pro) | |
| 10 | g.119672469A>G | CA378295665 | BAG3 | c.722A>G (p.Gln241Arg) c.548A>G (p.Gln183Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.119672469A>T | CA378295666 | BAG3 | c.722A>T (p.Gln241Leu) c.548A>T (p.Gln183Leu) | |
| 10 | g.119672470G>A | CA471739961 | BAG3 | c.723G>A (p.Gln241=) c.549G>A (p.Gln183=) | |
| 10 | g.119672470G>C | CA378295667 | BAG3 | c.723G>C (p.Gln241His) c.549G>C (p.Gln183His) | |
| 10 | g.119672470G>T | CA378295668 | BAG3 | c.723G>T (p.Gln241His) c.549G>T (p.Gln183His) | |
| 10 | g.119672471A= | CA1940193414 | BAG3 | c.724A= (p.Thr242=) c.550A= (p.Thr184=) | |
| 10 | g.119672471A>C | CA5716401 | BAG3 | c.724A>C (p.Thr242Pro) c.550A>C (p.Thr184Pro) | dbSNP ExAC gnomAD v2 |
| 10 | g.119672471A>G | CA378295669 | BAG3 | c.724A>G (p.Thr242Ala) c.550A>G (p.Thr184Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672471A>T | CA5716402 | BAG3 | c.724A>T (p.Thr242Ser) c.550A>T (p.Thr184Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.119672472C>A | CA378295670 | BAG3 | c.725C>A (p.Thr242Asn) c.551C>A (p.Thr184Asn) | |
| 10 | g.119672472C>G | CA378295671 | BAG3 | c.725C>G (p.Thr242Ser) c.551C>G (p.Thr184Ser) | |
| 10 | g.119672472C>T | CA378295672 | BAG3 | c.725C>T (p.Thr242Ile) c.551C>T (p.Thr184Ile) | |
| 10 | g.119672474dup | CA2580082468 | BAG3 | c.727dup (p.His243ProfsTer12) c.553dup (p.His185ProfsTer12) | ClinVar |
| 10 | g.119672474del | CA1139532242 | BAG3 | c.727del (p.His243ThrfsTer?) c.553del (p.His185ThrfsTer?) | dbSNP |