Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.119672256_119677283del | CA1139532250 | BAG3 | c.509_*1del | |
10 | g.119674392_119683124del | CA2580082473 | ClinVar | ||
10 | g.119675031_119678711del | CA2580082474 | ClinVar | ||
10 | g.119676642_119677262del | CA2573145588 | BAG3 | c.1088_1708del (p.Glu363_Pro569del) c.1085_1705del (p.Glu362_Pro568del) | ClinVar dbSNP |
10 | g.119677009G>A | CA214225269 | BAG3 | c.1455G>A (p.Arg485=) c.1452G>A (p.Arg484=) | ClinVar dbSNP gnomAD v4 |
10 | g.119677009G>C | CA378297352 | BAG3 | c.1455G>C (p.Arg485Ser) c.1452G>C (p.Arg484Ser) | |
10 | g.119677009G= | CA1940196806 | BAG3 | c.1455G= (p.Arg485=) c.1452G= (p.Arg484=) | |
10 | g.119677009G>T | CA378297353 | BAG3 | c.1455G>T (p.Arg485Ser) c.1452G>T (p.Arg484Ser) | |
10 | g.119677010A>C | CA378297354 | BAG3 | c.1456A>C (p.Lys486Gln) c.1453A>C (p.Lys485Gln) | |
10 | g.119677010A>G | CA378297355 | BAG3 | c.1456A>G (p.Lys486Glu) c.1453A>G (p.Lys485Glu) | |
10 | g.119677010A>T | CA378297356 | BAG3 | c.1456A>T (p.Lys486Ter) c.1453A>T (p.Lys485Ter) | |
10 | g.119677011A= | CA1940196807 | BAG3 | c.1457A= (p.Lys486=) c.1454A= (p.Lys485=) | |
10 | g.119677011A>C | CA378297357 | BAG3 | c.1457A>C (p.Lys486Thr) c.1454A>C (p.Lys485Thr) | |
10 | g.119677011A>G | CA5716555 | BAG3 | c.1457A>G (p.Lys486Arg) c.1454A>G (p.Lys485Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677011A>T | CA378297358 | BAG3 | c.1457A>T (p.Lys486Met) c.1454A>T (p.Lys485Met) | |
10 | g.119677012G>A | CA471739468 | BAG3 | c.1458G>A (p.Lys486=) c.1455G>A (p.Lys485=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119677012G>C | CA378297359 | BAG3 | c.1458G>C (p.Lys486Asn) c.1455G>C (p.Lys485Asn) | gnomAD v4 |
10 | g.119677012G= | CA1940196808 | BAG3 | c.1458G= (p.Lys486=) c.1455G= (p.Lys485=) | |
10 | g.119677012G>T | CA378297360 | BAG3 | c.1458G>T (p.Lys486Asn) c.1455G>T (p.Lys485Asn) | dbSNP |
10 | g.119677013G>A | CA378297361 | BAG3 | c.1459G>A (p.Val487Ile) c.1456G>A (p.Val486Ile) | |
10 | g.119677013G>C | CA378297363 | BAG3 | c.1459G>C (p.Val487Leu) c.1456G>C (p.Val486Leu) | |
10 | g.119677013G>T | CA378297362 | BAG3 | c.1459G>T (p.Val487Phe) c.1456G>T (p.Val486Phe) | |
10 | g.119677014T>A | CA378297364 | BAG3 | c.1460T>A (p.Val487Asp) c.1457T>A (p.Val486Asp) | |
10 | g.119677014T>C | CA378297365 | BAG3 | c.1460T>C (p.Val487Ala) c.1457T>C (p.Val486Ala) | |
10 | g.119677014T>G | CA378297366 | BAG3 | c.1460T>G (p.Val487Gly) c.1457T>G (p.Val486Gly) | |
10 | g.119677015T>A | CA471739470 | BAG3 | c.1461T>A (p.Val487=) c.1458T>A (p.Val486=) | gnomAD v4 |
10 | g.119677015T>C | CA471739471 | BAG3 | c.1461T>C (p.Val487=) c.1458T>C (p.Val486=) | |
10 | g.119677015T>G | CA471739472 | BAG3 | c.1461T>G (p.Val487=) c.1458T>G (p.Val486=) | |
10 | g.119677016C>A | CA378297367 | BAG3 | c.1462C>A (p.Gln488Lys) c.1459C>A (p.Gln487Lys) | |
10 | g.119677016C>G | CA378297368 | BAG3 | c.1462C>G (p.Gln488Glu) c.1459C>G (p.Gln487Glu) | |
10 | g.119677016C>T | CA378297369 | BAG3 | c.1462C>T (p.Gln488Ter) c.1459C>T (p.Gln487Ter) | |
10 | g.119677017A>C | CA378297370 | BAG3 | c.1463A>C (p.Gln488Pro) c.1460A>C (p.Gln487Pro) | |
10 | g.119677017A>G | CA378297371 | BAG3 | c.1463A>G (p.Gln488Arg) c.1460A>G (p.Gln487Arg) | |
10 | g.119677017A>T | CA378297372 | BAG3 | c.1463A>T (p.Gln488Leu) c.1460A>T (p.Gln487Leu) | |
10 | g.119677018G>A | CA471739475 | BAG3 | c.1464G>A (p.Gln488=) c.1461G>A (p.Gln487=) | |
10 | g.119677018G>C | CA378297373 | BAG3 | c.1464G>C (p.Gln488His) c.1461G>C (p.Gln487His) | gnomAD v4 |
10 | g.119677018G>T | CA378297374 | BAG3 | c.1464G>T (p.Gln488His) c.1461G>T (p.Gln487His) | |
10 | g.119677019A>C | CA378297377 | BAG3 | c.1465A>C (p.Thr489Pro) c.1462A>C (p.Thr488Pro) | |
10 | g.119677019A>G | CA378297376 | BAG3 | c.1465A>G (p.Thr489Ala) c.1462A>G (p.Thr488Ala) | |
10 | g.119677019A>T | CA378297375 | BAG3 | c.1465A>T (p.Thr489Ser) c.1462A>T (p.Thr488Ser) | |
10 | g.119677020C>A | CA378297378 | BAG3 | c.1466C>A (p.Thr489Asn) c.1463C>A (p.Thr488Asn) | |
10 | g.119677020C>G | CA378297379 | BAG3 | c.1466C>G (p.Thr489Ser) c.1463C>G (p.Thr488Ser) | |
10 | g.119677020C>T | CA378297380 | BAG3 | c.1466C>T (p.Thr489Ile) c.1463C>T (p.Thr488Ile) | |
10 | g.119677021C>A | CA471739476 | BAG3 | c.1467C>A (p.Thr489=) c.1464C>A (p.Thr488=) | |
10 | g.119677021C= | CA1940196809 | BAG3 | c.1467C= (p.Thr489=) c.1464C= (p.Thr488=) | |
10 | g.119677021C>G | CA471739477 | BAG3 | c.1467C>G (p.Thr489=) c.1464C>G (p.Thr488=) | |
10 | g.119677021C>T | CA471739478 | BAG3 | c.1467C>T (p.Thr489=) c.1464C>T (p.Thr488=) | dbSNP |
10 | g.119677022A= | CA1940196810 | BAG3 | c.1468A= (p.Ile490=) c.1465A= (p.Ile489=) | |
10 | g.119677022A>C | CA378297381 | BAG3 | c.1468A>C (p.Ile490Leu) c.1465A>C (p.Ile489Leu) | |
10 | g.119677022A>G | CA308239 | BAG3 | c.1468A>G (p.Ile490Val) c.1465A>G (p.Ile489Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677022A>T | CA378297382 | BAG3 | c.1468A>T (p.Ile490Phe) c.1465A>T (p.Ile489Phe) | |
10 | g.119677023T>A | CA378297383 | BAG3 | c.1469T>A (p.Ile490Asn) c.1466T>A (p.Ile489Asn) | |
10 | g.119677023T>C | CA378297384 | BAG3 | c.1469T>C (p.Ile490Thr) c.1466T>C (p.Ile489Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119677023T>G | CA378297385 | BAG3 | c.1469T>G (p.Ile490Ser) c.1466T>G (p.Ile489Ser) | |
10 | g.119677023T= | CA1940196811 | BAG3 | c.1469T= (p.Ile490=) c.1466T= (p.Ile489=) | |
10 | g.119677024C>A | CA471739482 | BAG3 | c.1470C>A (p.Ile490=) c.1467C>A (p.Ile489=) | |
10 | g.119677024C= | CA1940196812 | BAG3 | c.1470C= (p.Ile490=) c.1467C= (p.Ile489=) | |
10 | g.119677024C>G | CA378297386 | BAG3 | c.1470C>G (p.Ile490Met) c.1467C>G (p.Ile489Met) | gnomAD v4 |
10 | g.119677024C>T | CA214225279 | BAG3 | c.1470C>T (p.Ile490=) c.1467C>T (p.Ile489=) | ClinVar dbSNP |
10 | g.119677025T>A | CA378297387 | BAG3 | c.1471T>A (p.Leu491Met) c.1468T>A (p.Leu490Met) | |
10 | g.119677025T>C | CA471739484 | BAG3 | c.1471T>C (p.Leu491=) c.1468T>C (p.Leu490=) | |
10 | g.119677025T>G | CA378297388 | BAG3 | c.1471T>G (p.Leu491Val) c.1468T>G (p.Leu490Val) | ClinVar |
10 | g.119677026T>A | CA378297389 | BAG3 | c.1472T>A (p.Leu491Ter) c.1469T>A (p.Leu490Ter) | |
10 | g.119677026T>C | CA378297391 | BAG3 | c.1472T>C (p.Leu491Ser) c.1469T>C (p.Leu490Ser) | |
10 | g.119677026T>G | CA378297390 | BAG3 | c.1472T>G (p.Leu491Trp) c.1469T>G (p.Leu490Trp) | |
10 | g.119677027G>A | CA5716556 | BAG3 | c.1473G>A (p.Leu491=) c.1470G>A (p.Leu490=) | dbSNP ExAC gnomAD v4 |
10 | g.119677027G>C | CA378297393 | BAG3 | c.1473G>C (p.Leu491Phe) c.1470G>C (p.Leu490Phe) | gnomAD v4 COSMIC |
10 | g.119677027G= | CA1940196813 | BAG3 | c.1473G= (p.Leu491=) c.1470G= (p.Leu490=) | |
10 | g.119677027G>T | CA378297392 | BAG3 | c.1473G>T (p.Leu491Phe) c.1470G>T (p.Leu490Phe) | |
10 | g.119677028G>A | CA378297394 | BAG3 | c.1474G>A (p.Glu492Lys) c.1471G>A (p.Glu491Lys) | |
10 | g.119677028G>C | CA378297395 | BAG3 | c.1474G>C (p.Glu492Gln) c.1471G>C (p.Glu491Gln) | |
10 | g.119677028G>T | CA378297396 | BAG3 | c.1474G>T (p.Glu492Ter) c.1471G>T (p.Glu491Ter) | |
10 | g.119677029A>C | CA378297397 | BAG3 | c.1475A>C (p.Glu492Ala) c.1472A>C (p.Glu491Ala) | |
10 | g.119677029A>G | CA378297398 | BAG3 | c.1475A>G (p.Glu492Gly) c.1472A>G (p.Glu491Gly) | |
10 | g.119677029A>T | CA378297399 | BAG3 | c.1475A>T (p.Glu492Val) c.1472A>T (p.Glu491Val) | |
10 | g.119677030A= | CA1940196814 | BAG3 | c.1476A= (p.Glu492=) c.1473A= (p.Glu491=) | |
10 | g.119677030A>C | CA378297400 | BAG3 | c.1476A>C (p.Glu492Asp) c.1473A>C (p.Glu491Asp) | |
10 | g.119677030A>G | CA471739488 | BAG3 | c.1476A>G (p.Glu492=) c.1473A>G (p.Glu491=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677030A>T | CA378297401 | BAG3 | c.1476A>T (p.Glu492Asp) c.1473A>T (p.Glu491Asp) | |
10 | g.119677031A= | CA1940196815 | BAG3 | c.1477A= (p.Lys493=) c.1474A= (p.Lys492=) | |
10 | g.119677031A>C | CA378297402 | BAG3 | c.1477A>C (p.Lys493Gln) c.1474A>C (p.Lys492Gln) | |
10 | g.119677031A>G | CA378297403 | BAG3 | c.1477A>G (p.Lys493Glu) c.1474A>G (p.Lys492Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
10 | g.119677031A>T | CA378297404 | BAG3 | c.1477A>T (p.Lys493Ter) c.1474A>T (p.Lys492Ter) | |
10 | g.119677032A>C | CA378297405 | BAG3 | c.1478A>C (p.Lys493Thr) c.1475A>C (p.Lys492Thr) | |
10 | g.119677032A>G | CA378297406 | BAG3 | c.1478A>G (p.Lys493Arg) c.1475A>G (p.Lys492Arg) | |
10 | g.119677032A>T | CA378297407 | BAG3 | c.1478A>T (p.Lys493Ile) c.1475A>T (p.Lys492Ile) | |
10 | g.119677033A>C | CA378297408 | BAG3 | c.1479A>C (p.Lys493Asn) c.1476A>C (p.Lys492Asn) | |
10 | g.119677033A>G | CA471739490 | BAG3 | c.1479A>G (p.Lys493=) c.1476A>G (p.Lys492=) | |
10 | g.119677033A>T | CA378297409 | BAG3 | c.1479A>T (p.Lys493Asn) c.1476A>T (p.Lys492Asn) | |
10 | g.119677034C>A | CA378297410 | BAG3 | c.1480C>A (p.Leu494Ile) c.1477C>A (p.Leu493Ile) | |
10 | g.119677034C= | CA1940196816 | BAG3 | c.1480C= (p.Leu494=) c.1477C= (p.Leu493=) | |
10 | g.119677034C>G | CA378297411 | BAG3 | c.1480C>G (p.Leu494Val) c.1477C>G (p.Leu493Val) | |
10 | g.119677034C>T | CA378297412 | BAG3 | c.1480C>T (p.Leu494Phe) c.1477C>T (p.Leu493Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677035T>A | CA378297413 | BAG3 | c.1481T>A (p.Leu494His) c.1478T>A (p.Leu493His) | |
10 | g.119677035T>C | CA378297414 | BAG3 | c.1481T>C (p.Leu494Pro) c.1478T>C (p.Leu493Pro) | ClinVar |
10 | g.119677035T>G | CA378297415 | BAG3 | c.1481T>G (p.Leu494Arg) c.1478T>G (p.Leu493Arg) | |
10 | g.119677036del | CA471739494 | BAG3 | c.1482del (p.Glu495AsnfsTer?) c.1479del (p.Glu494AsnfsTer?) | COSMIC COSMIC |
10 | g.119677036T>A | CA471739495 | BAG3 | c.1482T>A (p.Leu494=) c.1479T>A (p.Leu493=) | |
10 | g.119677036T>C | CA471739496 | BAG3 | c.1482T>C (p.Leu494=) c.1479T>C (p.Leu493=) | |
10 | g.119677036T>G | CA471739497 | BAG3 | c.1482T>G (p.Leu494=) c.1479T>G (p.Leu493=) | |
10 | g.119677037G>A | CA378297416 | BAG3 | c.1483G>A (p.Glu495Lys) c.1480G>A (p.Glu494Lys) | |
10 | g.119677037G>C | CA378297417 | BAG3 | c.1483G>C (p.Glu495Gln) c.1480G>C (p.Glu494Gln) | |
10 | g.119677037G>T | CA378297418 | BAG3 | c.1483G>T (p.Glu495Ter) c.1480G>T (p.Glu494Ter) | |
10 | g.119677037dup | CA2789707798 | BAG3 | c.1483dup (p.Glu495GlyfsTer6) c.1480dup (p.Glu494GlyfsTer6) | |
10 | g.119677038A>C | CA378297419 | BAG3 | c.1484A>C (p.Glu495Ala) c.1481A>C (p.Glu494Ala) | |
10 | g.119677038A>G | CA378297420 | BAG3 | c.1484A>G (p.Glu495Gly) c.1481A>G (p.Glu494Gly) | |
10 | g.119677038A>T | CA378297421 | BAG3 | c.1484A>T (p.Glu495Val) c.1481A>T (p.Glu494Val) | |
10 | g.119677039A= | CA1940196817 | BAG3 | c.1485A= (p.Glu495=) c.1482A= (p.Glu494=) | |
10 | g.119677039A>C | CA378297422 | BAG3 | c.1485A>C (p.Glu495Asp) c.1482A>C (p.Glu494Asp) | |
10 | g.119677039A>G | CA5716557 | BAG3 | c.1485A>G (p.Glu495=) c.1482A>G (p.Glu494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677039A>T | CA378297423 | BAG3 | c.1485A>T (p.Glu495Asp) c.1482A>T (p.Glu494Asp) | |
10 | g.119677040C>A | CA378297424 | BAG3 | c.1486C>A (p.Gln496Lys) c.1483C>A (p.Gln495Lys) | |
10 | g.119677040C>G | CA378297425 | BAG3 | c.1486C>G (p.Gln496Glu) c.1483C>G (p.Gln495Glu) | |
10 | g.119677040C>T | CA378297426 | BAG3 | c.1486C>T (p.Gln496Ter) c.1483C>T (p.Gln495Ter) | |
10 | g.119677041A>C | CA378297427 | BAG3 | c.1487A>C (p.Gln496Pro) c.1484A>C (p.Gln495Pro) | |
10 | g.119677041A>G | CA378297428 | BAG3 | c.1487A>G (p.Gln496Arg) c.1484A>G (p.Gln495Arg) | |
10 | g.119677041A>T | CA378297429 | BAG3 | c.1487A>T (p.Gln496Leu) c.1484A>T (p.Gln495Leu) | |
10 | g.119677042G>A | CA471739502 | BAG3 | c.1488G>A (p.Gln496=) c.1485G>A (p.Gln495=) | |
10 | g.119677042G>C | CA378297430 | BAG3 | c.1488G>C (p.Gln496His) c.1485G>C (p.Gln495His) | |
10 | g.119677042G>T | CA378297431 | BAG3 | c.1488G>T (p.Gln496His) c.1485G>T (p.Gln495His) | |
10 | g.119677043A>C | CA378297432 | BAG3 | c.1489A>C (p.Lys497Gln) c.1486A>C (p.Lys496Gln) | ClinVar |
10 | g.119677043A>G | CA378297433 | BAG3 | c.1489A>G (p.Lys497Glu) c.1486A>G (p.Lys496Glu) | |
10 | g.119677043A>T | CA378297434 | BAG3 | c.1489A>T (p.Lys497Ter) c.1486A>T (p.Lys496Ter) | |
10 | g.119677045del | CA2740093567 | BAG3 | c.1491del (p.Ala498ProfsTer?) c.1488del (p.Ala497ProfsTer?) | ClinVar |
10 | g.119677044A>C | CA378297437 | BAG3 | c.1490A>C (p.Lys497Thr) c.1487A>C (p.Lys496Thr) | |
10 | g.119677044A>G | CA378297435 | BAG3 | c.1490A>G (p.Lys497Arg) c.1487A>G (p.Lys496Arg) | gnomAD v4 |
10 | g.119677044A>T | CA378297436 | BAG3 | c.1490A>T (p.Lys497Ile) c.1487A>T (p.Lys496Ile) | |
10 | g.119677045A>C | CA378297438 | BAG3 | c.1491A>C (p.Lys497Asn) c.1488A>C (p.Lys496Asn) | |
10 | g.119677045A>G | CA471739504 | BAG3 | c.1491A>G (p.Lys497=) c.1488A>G (p.Lys496=) | ClinVar dbSNP gnomAD v4 |
10 | g.119677045A>T | CA378297439 | BAG3 | c.1491A>T (p.Lys497Asn) c.1488A>T (p.Lys496Asn) | gnomAD v4 |
10 | g.119677046G>A | CA378297440 | BAG3 | c.1492G>A (p.Ala498Thr) c.1489G>A (p.Ala497Thr) | |
10 | g.119677046G>C | CA378297441 | BAG3 | c.1492G>C (p.Ala498Pro) c.1489G>C (p.Ala497Pro) | |
10 | g.119677046G>T | CA378297442 | BAG3 | c.1492G>T (p.Ala498Ser) c.1489G>T (p.Ala497Ser) | ClinVar gnomAD v4 |
10 | g.119677047C>A | CA378297443 | BAG3 | c.1493C>A (p.Ala498Asp) c.1490C>A (p.Ala497Asp) | |
10 | g.119677047C= | CA1940196818 | BAG3 | c.1493C= (p.Ala498=) c.1490C= (p.Ala497=) | |
10 | g.119677047C>G | CA378297444 | BAG3 | c.1493C>G (p.Ala498Gly) c.1490C>G (p.Ala497Gly) | |
10 | g.119677047C>T | CA378297445 | BAG3 | c.1493C>T (p.Ala498Val) c.1490C>T (p.Ala497Val) | dbSNP |
10 | g.119677047_119677048insGGGAGAC | CA2548133862 | BAG3 | c.1493_1494insGGGAGAC (p.Ile499GlyfsTer4) c.1490_1491insGGGAGAC (p.Ile498GlyfsTer4) | |
10 | g.119677050_119677060del | CA2740093568 | BAG3 | c.1496_1506del (p.Ile499ArgfsTer7) c.1493_1503del (p.Ile498ArgfsTer7) | ClinVar |
10 | g.119677048C>A | CA471739506 | BAG3 | c.1494C>A (p.Ala498=) c.1491C>A (p.Ala497=) | dbSNP |
10 | g.119677048C= | CA1940196819 | BAG3 | c.1494C= (p.Ala498=) c.1491C= (p.Ala497=) | |
10 | g.119677048C>G | CA471739507 | BAG3 | c.1494C>G (p.Ala498=) c.1491C>G (p.Ala497=) | |
10 | g.119677048C>T | CA471739508 | BAG3 | c.1494C>T (p.Ala498=) c.1491C>T (p.Ala497=) | ClinVar gnomAD v4 |
10 | g.119677049A>C | CA378297446 | BAG3 | c.1495A>C (p.Ile499Leu) c.1492A>C (p.Ile498Leu) | |
10 | g.119677049A>G | CA378297447 | BAG3 | c.1495A>G (p.Ile499Val) c.1492A>G (p.Ile498Val) | |
10 | g.119677049A>T | CA378297448 | BAG3 | c.1495A>T (p.Ile499Phe) c.1492A>T (p.Ile498Phe) | |
10 | g.119677049_119677050insAATAAATTGGCCTAACAGCGACAACAGTTTTGTCTCTCGAAATTCGTCACACATAACTAACACTTATGAAACATCTTAGAATACTCATCCTGACAATCGTCCTGAGCAGCGTTGCAGGCC | CA2559022289 | BAG3 | c.1495_1496insAATAAATTGGCCTAACAGCGACAACAGTTTTGTCTCTCGAAATTCGTCACACATAACTAACACTTATGAAACATCTTAGAATACTCATCCTGACAATCGTCCTGAGCAGCGTTGCAGGCC (p.Ile499LysfsTer2) c.1492_1493insAATAAATTGGCCTAACAGCGACAACAGTTTTGTCTCTCGAAATTCGTCACACATAACTAACACTTATGAAACATCTTAGAATACTCATCCTGACAATCGTCCTGAGCAGCGTTGCAGGCC (p.Ile498LysfsTer2) | |
10 | g.119677050T>A | CA378297450 | BAG3 | c.1496T>A (p.Ile499Asn) c.1493T>A (p.Ile498Asn) | ClinVar gnomAD v4 |
10 | g.119677050T>C | CA378297451 | BAG3 | c.1496T>C (p.Ile499Thr) c.1493T>C (p.Ile498Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677050T>G | CA378297449 | BAG3 | c.1496T>G (p.Ile499Ser) c.1493T>G (p.Ile498Ser) | |
10 | g.119677050T= | CA1940196820 | BAG3 | c.1496T= (p.Ile499=) c.1493T= (p.Ile498=) | |
10 | g.119677051T>A | CA471739510 | BAG3 | c.1497T>A (p.Ile499=) c.1494T>A (p.Ile498=) | |
10 | g.119677051T>C | CA471739511 | BAG3 | c.1497T>C (p.Ile499=) c.1494T>C (p.Ile498=) | dbSNP |
10 | g.119677051T>G | CA378297452 | BAG3 | c.1497T>G (p.Ile499Met) c.1494T>G (p.Ile498Met) | |
10 | g.119677051T= | CA1940196821 | BAG3 | c.1497T= (p.Ile499=) c.1494T= (p.Ile498=) | |
10 | g.119677052G>A | CA378297453 | BAG3 | c.1498G>A (p.Asp500Asn) c.1495G>A (p.Asp499Asn) | |
10 | g.119677052G>C | CA5716558 | BAG3 | c.1498G>C (p.Asp500His) c.1495G>C (p.Asp499His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677052G= | CA1940196822 | BAG3 | c.1498G= (p.Asp500=) c.1495G= (p.Asp499=) | |
10 | g.119677052G>T | CA378297454 | BAG3 | c.1498G>T (p.Asp500Tyr) c.1495G>T (p.Asp499Tyr) | ClinVar gnomAD v4 |
10 | g.119677053A>C | CA378297455 | BAG3 | c.1499A>C (p.Asp500Ala) c.1496A>C (p.Asp499Ala) | |
10 | g.119677053A>G | CA378297456 | BAG3 | c.1499A>G (p.Asp500Gly) c.1496A>G (p.Asp499Gly) | |
10 | g.119677053A>T | CA378297457 | BAG3 | c.1499A>T (p.Asp500Val) c.1496A>T (p.Asp499Val) | ClinVar dbSNP |
10 | g.119677054T>A | CA378297458 | BAG3 | c.1500T>A (p.Asp500Glu) c.1497T>A (p.Asp499Glu) | gnomAD v4 |
10 | g.119677054T>C | CA471739515 | BAG3 | c.1500T>C (p.Asp500=) c.1497T>C (p.Asp499=) | |
10 | g.119677054T>G | CA378297459 | BAG3 | c.1500T>G (p.Asp500Glu) c.1497T>G (p.Asp499Glu) | |
10 | g.119677055G>A | CA378297460 | BAG3 | c.1501G>A (p.Val501Ile) c.1498G>A (p.Val500Ile) | dbSNP |
10 | g.119677055G>C | CA378297461 | BAG3 | c.1501G>C (p.Val501Leu) c.1498G>C (p.Val500Leu) | |
10 | g.119677055G= | CA1940196823 | BAG3 | c.1501G= (p.Val501=) c.1498G= (p.Val500=) | |
10 | g.119677055G>T | CA378297462 | BAG3 | c.1501G>T (p.Val501Phe) c.1498G>T (p.Val500Phe) | |
10 | g.119677056T>A | CA378297463 | BAG3 | c.1502T>A (p.Val501Asp) c.1499T>A (p.Val500Asp) | dbSNP |
10 | g.119677056T>C | CA378297464 | BAG3 | c.1502T>C (p.Val501Ala) c.1499T>C (p.Val500Ala) | |
10 | g.119677056T>G | CA378297465 | BAG3 | c.1502T>G (p.Val501Gly) c.1499T>G (p.Val500Gly) | |
10 | g.119677056T= | CA1940196824 | BAG3 | c.1502T= (p.Val501=) c.1499T= (p.Val500=) | |
10 | g.119677057C>A | CA5716559 | BAG3 | c.1503C>A (p.Val501=) c.1500C>A (p.Val500=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677057C= | CA1940196825 | BAG3 | c.1503C= (p.Val501=) c.1500C= (p.Val500=) | |
10 | g.119677057C>G | CA471739517 | BAG3 | c.1503C>G (p.Val501=) c.1500C>G (p.Val500=) | |
10 | g.119677057C>T | CA10635036 | BAG3 | c.1503C>T (p.Val501=) c.1500C>T (p.Val500=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677058C>A | CA378297466 | BAG3 | c.1504C>A (p.Pro502Thr) c.1501C>A (p.Pro501Thr) | |
10 | g.119677058C= | CA1940196826 | BAG3 | c.1504C= (p.Pro502=) c.1501C= (p.Pro501=) | |
10 | g.119677058C>G | CA378297467 | BAG3 | c.1504C>G (p.Pro502Ala) c.1501C>G (p.Pro501Ala) | ClinVar dbSNP gnomAD v4 |
10 | g.119677058C>T | CA378297468 | BAG3 | c.1504C>T (p.Pro502Ser) c.1501C>T (p.Pro501Ser) | ClinVar gnomAD v4 |
10 | g.119677065_119677075del | CA2580082443 | BAG3 | c.1511_1521del (p.Gln504LeufsTer2) c.1508_1518del (p.Gln503LeufsTer2) | ClinVar |
10 | g.119677059C>A | CA378297469 | BAG3 | c.1505C>A (p.Pro502Gln) c.1502C>A (p.Pro501Gln) | |
10 | g.119677059C= | CA1940196827 | BAG3 | c.1505C= (p.Pro502=) c.1502C= (p.Pro501=) | |
10 | g.119677059C>G | CA5716560 | BAG3 | c.1505C>G (p.Pro502Arg) c.1502C>G (p.Pro501Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677059C>T | CA378297470 | BAG3 | c.1505C>T (p.Pro502Leu) c.1502C>T (p.Pro501Leu) | |
10 | g.119677060A>C | CA471739518 | BAG3 | c.1506A>C (p.Pro502=) c.1503A>C (p.Pro501=) | |
10 | g.119677060A>G | CA471739519 | BAG3 | c.1506A>G (p.Pro502=) c.1503A>G (p.Pro501=) | |
10 | g.119677060A>T | CA471739520 | BAG3 | c.1506A>T (p.Pro502=) c.1503A>T (p.Pro501=) | |
10 | g.119677061G>A | CA378297471 | BAG3 | c.1507G>A (p.Gly503Ser) c.1504G>A (p.Gly502Ser) | ClinVar |
10 | g.119677061G>C | CA378297472 | BAG3 | c.1507G>C (p.Gly503Arg) c.1504G>C (p.Gly502Arg) | |
10 | g.119677061G>T | CA378297473 | BAG3 | c.1507G>T (p.Gly503Cys) c.1504G>T (p.Gly502Cys) | |
10 | g.119677062G>A | CA378297474 | BAG3 | c.1508G>A (p.Gly503Asp) c.1505G>A (p.Gly502Asp) | dbSNP |
10 | g.119677062G>C | CA378297475 | BAG3 | c.1508G>C (p.Gly503Ala) c.1505G>C (p.Gly502Ala) | |
10 | g.119677062G= | CA1940196828 | BAG3 | c.1508G= (p.Gly503=) c.1505G= (p.Gly502=) | |
10 | g.119677062G>T | CA378297476 | BAG3 | c.1508G>T (p.Gly503Val) c.1505G>T (p.Gly502Val) | gnomAD v4 |
10 | g.119677063T>A | CA471739524 | BAG3 | c.1509T>A (p.Gly503=) c.1506T>A (p.Gly502=) | |
10 | g.119677063T>C | CA471739525 | BAG3 | c.1509T>C (p.Gly503=) c.1506T>C (p.Gly502=) | |
10 | g.119677063T>G | CA471739526 | BAG3 | c.1509T>G (p.Gly503=) c.1506T>G (p.Gly502=) | gnomAD v4 |
10 | g.119677064C>A | CA378297479 | BAG3 | c.1510C>A (p.Gln504Lys) c.1507C>A (p.Gln503Lys) | |
10 | g.119677064C>G | CA378297478 | BAG3 | c.1510C>G (p.Gln504Glu) c.1507C>G (p.Gln503Glu) | |
10 | g.119677064C>T | CA378297477 | BAG3 | c.1510C>T (p.Gln504Ter) c.1507C>T (p.Gln503Ter) | |
10 | g.119677065A= | CA1940196829 | BAG3 | c.1511A= (p.Gln504=) c.1508A= (p.Gln503=) | |
10 | g.119677065A>C | CA378297480 | BAG3 | c.1511A>C (p.Gln504Pro) c.1508A>C (p.Gln503Pro) | dbSNP gnomAD v2 |
10 | g.119677065A>G | CA378297481 | BAG3 | c.1511A>G (p.Gln504Arg) c.1508A>G (p.Gln503Arg) | |
10 | g.119677065A>T | CA378297482 | BAG3 | c.1511A>T (p.Gln504Leu) c.1508A>T (p.Gln503Leu) | |
10 | g.119677066A= | CA1940196830 | BAG3 | c.1512A= (p.Gln504=) c.1509A= (p.Gln503=) | |
10 | g.119677066A>C | CA378297483 | BAG3 | c.1512A>C (p.Gln504His) c.1509A>C (p.Gln503His) | |
10 | g.119677066A>G | CA471739527 | BAG3 | c.1512A>G (p.Gln504=) c.1509A>G (p.Gln503=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119677066A>T | CA378297484 | BAG3 | c.1512A>T (p.Gln504His) c.1509A>T (p.Gln503His) | |
10 | g.119677067G>A | CA378297487 | BAG3 | c.1513G>A (p.Val505Ile) c.1510G>A (p.Val504Ile) | |
10 | g.119677067G>C | CA378297486 | BAG3 | c.1513G>C (p.Val505Leu) c.1510G>C (p.Val504Leu) | |
10 | g.119677067G>T | CA378297485 | BAG3 | c.1513G>T (p.Val505Phe) c.1510G>T (p.Val504Phe) | |
10 | g.119677068T>A | CA378297488 | BAG3 | c.1514T>A (p.Val505Asp) c.1511T>A (p.Val504Asp) | |
10 | g.119677068T>C | CA378297489 | BAG3 | c.1514T>C (p.Val505Ala) c.1511T>C (p.Val504Ala) | |
10 | g.119677068T>G | CA378297490 | BAG3 | c.1514T>G (p.Val505Gly) c.1511T>G (p.Val504Gly) | |
10 | g.119677069C>A | CA471739529 | BAG3 | c.1515C>A (p.Val505=) c.1512C>A (p.Val504=) | |
10 | g.119677069C= | CA1940196831 | BAG3 | c.1515C= (p.Val505=) c.1512C= (p.Val504=) | |
10 | g.119677069C>G | CA471739530 | BAG3 | c.1515C>G (p.Val505=) c.1512C>G (p.Val504=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677069C>T | CA471739531 | BAG3 | c.1515C>T (p.Val505=) c.1512C>T (p.Val504=) | |
10 | g.119677070C>A | CA378297491 | BAG3 | c.1516C>A (p.Gln506Lys) c.1513C>A (p.Gln505Lys) | |
10 | g.119677070C>G | CA378297492 | BAG3 | c.1516C>G (p.Gln506Glu) c.1513C>G (p.Gln505Glu) | ClinVar gnomAD v4 |
10 | g.119677070C>T | CA378297493 | BAG3 | c.1516C>T (p.Gln506Ter) c.1513C>T (p.Gln505Ter) | |
10 | g.119677071A>C | CA378297494 | BAG3 | c.1517A>C (p.Gln506Pro) c.1514A>C (p.Gln505Pro) | |
10 | g.119677071A>G | CA378297496 | BAG3 | c.1517A>G (p.Gln506Arg) c.1514A>G (p.Gln505Arg) | gnomAD v4 |
10 | g.119677071A>T | CA378297495 | BAG3 | c.1517A>T (p.Gln506Leu) c.1514A>T (p.Gln505Leu) | |
10 | g.119677072G>A | CA471739533 | BAG3 | c.1518G>A (p.Gln506=) c.1515G>A (p.Gln505=) | gnomAD v4 |
10 | g.119677072G>C | CA378297497 | BAG3 | c.1518G>C (p.Gln506His) c.1515G>C (p.Gln505His) | |
10 | g.119677072G>T | CA378297498 | BAG3 | c.1518G>T (p.Gln506His) c.1515G>T (p.Gln505His) | |
10 | g.119677073del | CA2573145591 | BAG3 | c.1519del (p.Val507SerfsTer?) c.1516del (p.Val506SerfsTer?) | ClinVar dbSNP |
10 | g.119677073G>A | CA378297499 | BAG3 | c.1519G>A (p.Val507Ile) c.1516G>A (p.Val506Ile) | gnomAD v4 |
10 | g.119677073G>C | CA378297500 | BAG3 | c.1519G>C (p.Val507Leu) c.1516G>C (p.Val506Leu) | |
10 | g.119677073G>T | CA378297501 | BAG3 | c.1519G>T (p.Val507Phe) c.1516G>T (p.Val506Phe) | |
10 | g.119677074T>A | CA378297502 | BAG3 | c.1520T>A (p.Val507Asp) c.1517T>A (p.Val506Asp) | |
10 | g.119677074T>C | CA378297503 | BAG3 | c.1520T>C (p.Val507Ala) c.1517T>C (p.Val506Ala) | dbSNP |
10 | g.119677074T>G | CA378297504 | BAG3 | c.1520T>G (p.Val507Gly) c.1517T>G (p.Val506Gly) | |
10 | g.119677074T= | CA1940196832 | BAG3 | c.1520T= (p.Val507=) c.1517T= (p.Val506=) | |
10 | g.119677075C>A | CA471739534 | BAG3 | c.1521C>A (p.Val507=) c.1518C>A (p.Val506=) | |
10 | g.119677075C>G | CA471739535 | BAG3 | c.1521C>G (p.Val507=) c.1518C>G (p.Val506=) | |
10 | g.119677075C>T | CA471739536 | BAG3 | c.1521C>T (p.Val507=) c.1518C>T (p.Val506=) | |
10 | g.119677076T>A | CA378297505 | BAG3 | c.1522T>A (p.Tyr508Asn) c.1519T>A (p.Tyr507Asn) | |
10 | g.119677076T>C | CA378297506 | BAG3 | c.1522T>C (p.Tyr508His) c.1519T>C (p.Tyr507His) | |
10 | g.119677076T>G | CA378297507 | BAG3 | c.1522T>G (p.Tyr508Asp) c.1519T>G (p.Tyr507Asp) | |
10 | g.119677077A= | CA1940196833 | BAG3 | c.1523A= (p.Tyr508=) c.1520A= (p.Tyr507=) | |
10 | g.119677077A>C | CA378297509 | BAG3 | c.1523A>C (p.Tyr508Ser) c.1520A>C (p.Tyr507Ser) | |
10 | g.119677077A>G | CA5716561 | BAG3 | c.1523A>G (p.Tyr508Cys) c.1520A>G (p.Tyr507Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677077A>T | CA378297508 | BAG3 | c.1523A>T (p.Tyr508Phe) c.1520A>T (p.Tyr507Phe) | |
10 | g.119677078T>A | CA378297510 | BAG3 | c.1524T>A (p.Tyr508Ter) c.1521T>A (p.Tyr507Ter) | |
10 | g.119677078T>C | CA471739540 | BAG3 | c.1524T>C (p.Tyr508=) c.1521T>C (p.Tyr507=) | dbSNP |
10 | g.119677078T>G | CA378297511 | BAG3 | c.1524T>G (p.Tyr508Ter) c.1521T>G (p.Tyr507Ter) | |
10 | g.119677079G>A | CA378297512 | BAG3 | c.1525G>A (p.Glu509Lys) c.1522G>A (p.Glu508Lys) | |
10 | g.119677079G>C | CA378297513 | BAG3 | c.1525G>C (p.Glu509Gln) c.1522G>C (p.Glu508Gln) | |
10 | g.119677079G>T | CA378297514 | BAG3 | c.1525G>T (p.Glu509Ter) c.1522G>T (p.Glu508Ter) | |
10 | g.119677080A>C | CA378297515 | BAG3 | c.1526A>C (p.Glu509Ala) c.1523A>C (p.Glu508Ala) | |
10 | g.119677080A>G | CA378297516 | BAG3 | c.1526A>G (p.Glu509Gly) c.1523A>G (p.Glu508Gly) | |
10 | g.119677080A>T | CA378297517 | BAG3 | c.1526A>T (p.Glu509Val) c.1523A>T (p.Glu508Val) | |
10 | g.119677081A= | CA1940196835 | BAG3 | c.1527A= (p.Glu509=) c.1524A= (p.Glu508=) | |
10 | g.119677081A>C | CA378297518 | BAG3 | c.1527A>C (p.Glu509Asp) c.1524A>C (p.Glu508Asp) | |
10 | g.119677081A>G | CA471739636 | BAG3 | c.1527A>G (p.Glu509=) c.1524A>G (p.Glu508=) | ClinVar dbSNP gnomAD v4 |
10 | g.119677081A>T | CA378297519 | BAG3 | c.1527A>T (p.Glu509Asp) c.1524A>T (p.Glu508Asp) | |
10 | g.119677081_119677087delinsACTCCAG | CA1940196834 | BAG3 | c.1527_1533delinsACTCCAG (p.Glu509=) c.1524_1530delinsACTCCAG (p.Glu508=) | |
10 | g.119677082C>A | CA378297520 | BAG3 | c.1528C>A (p.Leu510Ile) c.1525C>A (p.Leu509Ile) | |
10 | g.119677082C= | CA1940196836 | BAG3 | c.1528C= (p.Leu510=) c.1525C= (p.Leu509=) | |
10 | g.119677082C>G | CA378297521 | BAG3 | c.1528C>G (p.Leu510Val) c.1525C>G (p.Leu509Val) | |
10 | g.119677082C>T | CA5716562 | BAG3 | c.1528C>T (p.Leu510Phe) c.1525C>T (p.Leu509Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677083_119677088del | CA596578108 | BAG3 | c.1529_1534del (p.Leu510_Gln511del) c.1526_1531del (p.Leu509_Gln510del) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677083T>A | CA378297522 | BAG3 | c.1529T>A (p.Leu510His) c.1526T>A (p.Leu509His) | |
10 | g.119677083T>C | CA378297523 | BAG3 | c.1529T>C (p.Leu510Pro) c.1526T>C (p.Leu509Pro) | |
10 | g.119677083T>G | CA378297524 | BAG3 | c.1529T>G (p.Leu510Arg) c.1526T>G (p.Leu509Arg) | |
10 | g.119677084C>A | CA471739640 | BAG3 | c.1530C>A (p.Leu510=) c.1527C>A (p.Leu509=) | |
10 | g.119677084C>G | CA471739642 | BAG3 | c.1530C>G (p.Leu510=) c.1527C>G (p.Leu509=) | gnomAD v4 COSMIC |
10 | g.119677084C>T | CA471739641 | BAG3 | c.1530C>T (p.Leu510=) c.1527C>T (p.Leu509=) | ClinVar |
10 | g.119677085C>A | CA378297525 | BAG3 | c.1531C>A (p.Gln511Lys) c.1528C>A (p.Gln510Lys) | ClinVar dbSNP gnomAD v4 |
10 | g.119677085C= | CA1940196837 | BAG3 | c.1531C= (p.Gln511=) c.1528C= (p.Gln510=) | |
10 | g.119677085C>G | CA5716563 | BAG3 | c.1531C>G (p.Gln511Glu) c.1528C>G (p.Gln510Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677085C>T | CA378297526 | BAG3 | c.1531C>T (p.Gln511Ter) c.1528C>T (p.Gln510Ter) | ClinVar dbSNP |
10 | g.119677086A>C | CA378297527 | BAG3 | c.1532A>C (p.Gln511Pro) c.1529A>C (p.Gln510Pro) | |
10 | g.119677086A>G | CA378297528 | BAG3 | c.1532A>G (p.Gln511Arg) c.1529A>G (p.Gln510Arg) | |
10 | g.119677086A>T | CA378297529 | BAG3 | c.1532A>T (p.Gln511Leu) c.1529A>T (p.Gln510Leu) | gnomAD v4 |
10 | g.119677087G>A | CA5716564 | BAG3 | c.1533G>A (p.Gln511=) c.1530G>A (p.Gln510=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677087G>C | CA378297530 | BAG3 | c.1533G>C (p.Gln511His) c.1530G>C (p.Gln510His) | gnomAD v4 |
10 | g.119677087G= | CA1940196838 | BAG3 | c.1533G= (p.Gln511=) c.1530G= (p.Gln510=) | |
10 | g.119677087G>T | CA378297531 | BAG3 | c.1533G>T (p.Gln511His) c.1530G>T (p.Gln510His) | |
10 | g.119677088C>A | CA378297532 | BAG3 | c.1534C>A (p.Pro512Thr) c.1531C>A (p.Pro511Thr) | |
10 | g.119677088C= | CA1940196839 | BAG3 | c.1534C= (p.Pro512=) c.1531C= (p.Pro511=) | |
10 | g.119677088C>G | CA378297533 | BAG3 | c.1534C>G (p.Pro512Ala) c.1531C>G (p.Pro511Ala) | |
10 | g.119677088C>T | CA5716565 | BAG3 | c.1534C>T (p.Pro512Ser) c.1531C>T (p.Pro511Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677089C>A | CA378297534 | BAG3 | c.1535C>A (p.Pro512His) c.1532C>A (p.Pro511His) | |
10 | g.119677089C>G | CA378297535 | BAG3 | c.1535C>G (p.Pro512Arg) c.1532C>G (p.Pro511Arg) | |
10 | g.119677089C>T | CA378297536 | BAG3 | c.1535C>T (p.Pro512Leu) c.1532C>T (p.Pro511Leu) | |
10 | g.119677090C>A | CA471739646 | BAG3 | c.1536C>A (p.Pro512=) c.1533C>A (p.Pro511=) | |
10 | g.119677090C= | CA1940196840 | BAG3 | c.1536C= (p.Pro512=) c.1533C= (p.Pro511=) | |
10 | g.119677090C>G | CA471739647 | BAG3 | c.1536C>G (p.Pro512=) c.1533C>G (p.Pro511=) | |
10 | g.119677090C>T | CA471739648 | BAG3 | c.1536C>T (p.Pro512=) c.1533C>T (p.Pro511=) | ClinVar dbSNP gnomAD v4 |
10 | g.119677091A= | CA1940196841 | BAG3 | c.1537A= (p.Ser513=) c.1534A= (p.Ser512=) | |
10 | g.119677091A>C | CA378297539 | BAG3 | c.1537A>C (p.Ser513Arg) c.1534A>C (p.Ser512Arg) | |
10 | g.119677091A>G | CA378297537 | BAG3 | c.1537A>G (p.Ser513Gly) c.1534A>G (p.Ser512Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677091A>T | CA378297538 | BAG3 | c.1537A>T (p.Ser513Cys) c.1534A>T (p.Ser512Cys) | |
10 | g.119677092G>A | CA378297540 | BAG3 | c.1538G>A (p.Ser513Asn) c.1535G>A (p.Ser512Asn) | |
10 | g.119677092G>C | CA378297541 | BAG3 | c.1538G>C (p.Ser513Thr) c.1535G>C (p.Ser512Thr) | ClinVar |
10 | g.119677092G>T | CA378297542 | BAG3 | c.1538G>T (p.Ser513Ile) c.1535G>T (p.Ser512Ile) | |
10 | g.119677093C>A | CA378297543 | BAG3 | c.1539C>A (p.Ser513Arg) c.1536C>A (p.Ser512Arg) | |
10 | g.119677093C= | CA1940196842 | BAG3 | c.1539C= (p.Ser513=) c.1536C= (p.Ser512=) | |
10 | g.119677093C>G | CA378297544 | BAG3 | c.1539C>G (p.Ser513Arg) c.1536C>G (p.Ser512Arg) | gnomAD v4 |
10 | g.119677093C>T | CA5716566 | BAG3 | c.1539C>T (p.Ser513=) c.1536C>T (p.Ser512=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677094A>C | CA378297547 | BAG3 | c.1540A>C (p.Asn514His) c.1537A>C (p.Asn513His) | |
10 | g.119677094A>G | CA378297545 | BAG3 | c.1540A>G (p.Asn514Asp) c.1537A>G (p.Asn513Asp) | |
10 | g.119677094A>T | CA378297546 | BAG3 | c.1540A>T (p.Asn514Tyr) c.1537A>T (p.Asn513Tyr) | |
10 | g.119677095A= | CA1940196843 | BAG3 | c.1541A= (p.Asn514=) c.1538A= (p.Asn513=) | |
10 | g.119677095A>C | CA378297548 | BAG3 | c.1541A>C (p.Asn514Thr) c.1538A>C (p.Asn513Thr) | |
10 | g.119677095A>G | CA378297549 | BAG3 | c.1541A>G (p.Asn514Ser) c.1538A>G (p.Asn513Ser) | ClinVar dbSNP |
10 | g.119677095A>T | CA378297550 | BAG3 | c.1541A>T (p.Asn514Ile) c.1538A>T (p.Asn513Ile) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.119677096C>A | CA378297551 | BAG3 | c.1542C>A (p.Asn514Lys) c.1539C>A (p.Asn513Lys) | |
10 | g.119677096C>G | CA378297552 | BAG3 | c.1542C>G (p.Asn514Lys) c.1539C>G (p.Asn513Lys) | gnomAD v4 |
10 | g.119677096C>T | CA471739654 | BAG3 | c.1542C>T (p.Asn514=) c.1539C>T (p.Asn513=) | ClinVar |
10 | g.119677097C>A | CA378297555 | BAG3 | c.1543C>A (p.Leu515Ile) c.1540C>A (p.Leu514Ile) | |
10 | g.119677097C>G | CA378297553 | BAG3 | c.1543C>G (p.Leu515Val) c.1540C>G (p.Leu514Val) | |
10 | g.119677097C>T | CA378297554 | BAG3 | c.1543C>T (p.Leu515Phe) c.1540C>T (p.Leu514Phe) | ClinVar gnomAD v4 |
10 | g.119677098T>A | CA378297556 | BAG3 | c.1544T>A (p.Leu515His) c.1541T>A (p.Leu514His) | gnomAD v4 |
10 | g.119677098T>C | CA378297557 | BAG3 | c.1544T>C (p.Leu515Pro) c.1541T>C (p.Leu514Pro) | gnomAD v4 |
10 | g.119677098T>G | CA378297558 | BAG3 | c.1544T>G (p.Leu515Arg) c.1541T>G (p.Leu514Arg) | |
10 | g.119677099T>A | CA471739656 | BAG3 | c.1545T>A (p.Leu515=) c.1542T>A (p.Leu514=) | |
10 | g.119677099T>C | CA5716567 | BAG3 | c.1545T>C (p.Leu515=) c.1542T>C (p.Leu514=) | dbSNP ExAC gnomAD v4 |
10 | g.119677099T>G | CA471739657 | BAG3 | c.1545T>G (p.Leu515=) c.1542T>G (p.Leu514=) | |
10 | g.119677099T= | CA1940196844 | BAG3 | c.1545T= (p.Leu515=) c.1542T= (p.Leu514=) | |
10 | g.119677100G>A | CA378297559 | BAG3 | c.1546G>A (p.Glu516Lys) c.1543G>A (p.Glu515Lys) | ClinVar |
10 | g.119677100G>C | CA378297560 | BAG3 | c.1546G>C (p.Glu516Gln) c.1543G>C (p.Glu515Gln) | dbSNP |
10 | g.119677100G= | CA1940196845 | BAG3 | c.1546G= (p.Glu516=) c.1543G= (p.Glu515=) | |
10 | g.119677100G>T | CA378297561 | BAG3 | c.1546G>T (p.Glu516Ter) c.1543G>T (p.Glu515Ter) | |
10 | g.119677101A>C | CA378297562 | BAG3 | c.1547A>C (p.Glu516Ala) c.1544A>C (p.Glu515Ala) | |
10 | g.119677101A>G | CA378297563 | BAG3 | c.1547A>G (p.Glu516Gly) c.1544A>G (p.Glu515Gly) | |
10 | g.119677101A>T | CA378297564 | BAG3 | c.1547A>T (p.Glu516Val) c.1544A>T (p.Glu515Val) | |
10 | g.119677102A>C | CA378297565 | BAG3 | c.1548A>C (p.Glu516Asp) c.1545A>C (p.Glu515Asp) | |
10 | g.119677102A>G | CA471739659 | BAG3 | c.1548A>G (p.Glu516=) c.1545A>G (p.Glu515=) | |
10 | g.119677102A>T | CA378297566 | BAG3 | c.1548A>T (p.Glu516Asp) c.1545A>T (p.Glu515Asp) | |
10 | g.119677103G>A | CA378297567 | BAG3 | c.1549G>A (p.Ala517Thr) c.1546G>A (p.Ala516Thr) | |
10 | g.119677103G>C | CA378297568 | BAG3 | c.1549G>C (p.Ala517Pro) c.1546G>C (p.Ala516Pro) | |
10 | g.119677103G= | CA1940196846 | BAG3 | c.1549G= (p.Ala517=) c.1546G= (p.Ala516=) | |
10 | g.119677103G>T | CA214225324 | BAG3 | c.1549G>T (p.Ala517Ser) c.1546G>T (p.Ala516Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
10 | g.119677104C>A | CA378297569 | BAG3 | c.1550C>A (p.Ala517Glu) c.1547C>A (p.Ala516Glu) | |
10 | g.119677104C>G | CA378297570 | BAG3 | c.1550C>G (p.Ala517Gly) c.1547C>G (p.Ala516Gly) | |
10 | g.119677104C>T | CA378297571 | BAG3 | c.1550C>T (p.Ala517Val) c.1547C>T (p.Ala516Val) | gnomAD v4 |
10 | g.119677105A>C | CA471739661 | BAG3 | c.1551A>C (p.Ala517=) c.1548A>C (p.Ala516=) | |
10 | g.119677105A>G | CA471739662 | BAG3 | c.1551A>G (p.Ala517=) c.1548A>G (p.Ala516=) | |
10 | g.119677105A>T | CA471739663 | BAG3 | c.1551A>T (p.Ala517=) c.1548A>T (p.Ala516=) | |
10 | g.119677106G>A | CA5716568 | BAG3 | c.1552G>A (p.Asp518Asn) c.1549G>A (p.Asp517Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.119677106G>C | CA378297572 | BAG3 | c.1552G>C (p.Asp518His) c.1549G>C (p.Asp517His) | ClinVar gnomAD v4 |
10 | g.119677106G= | CA1940196847 | BAG3 | c.1552G= (p.Asp518=) c.1549G= (p.Asp517=) | |
10 | g.119677106G>T | CA378297573 | BAG3 | c.1552G>T (p.Asp518Tyr) c.1549G>T (p.Asp517Tyr) | gnomAD v4 |
10 | g.119677107A>C | CA378297576 | BAG3 | c.1553A>C (p.Asp518Ala) c.1550A>C (p.Asp517Ala) | |
10 | g.119677107A>G | CA378297574 | BAG3 | c.1553A>G (p.Asp518Gly) c.1550A>G (p.Asp517Gly) | gnomAD v4 |
10 | g.119677107A>T | CA378297575 | BAG3 | c.1553A>T (p.Asp518Val) c.1550A>T (p.Asp517Val) | |
10 | g.119677108T>A | CA5716569 | BAG3 | c.1554T>A (p.Asp518Glu) c.1551T>A (p.Asp517Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677108T>C | CA471739666 | BAG3 | c.1554T>C (p.Asp518=) c.1551T>C (p.Asp517=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.119677108T>G | CA378297577 | BAG3 | c.1554T>G (p.Asp518Glu) c.1551T>G (p.Asp517Glu) | |
10 | g.119677108T= | CA1940196848 | BAG3 | c.1554T= (p.Asp518=) c.1551T= (p.Asp517=) | |
10 | g.119677109C>A | CA378297578 | BAG3 | c.1555C>A (p.Gln519Lys) c.1552C>A (p.Gln518Lys) | |
10 | g.119677109C>G | CA378297579 | BAG3 | c.1555C>G (p.Gln519Glu) c.1552C>G (p.Gln518Glu) | |
10 | g.119677109C>T | CA378297580 | BAG3 | c.1555C>T (p.Gln519Ter) c.1552C>T (p.Gln518Ter) | gnomAD v4 |