Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
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=) |