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 |
|---|---|---|---|---|---|
| 1 | g.6144022A>C | CA338081326 | CHD5 | c.1934+2T>G (n.1934+2T>G) c.81+2T>G | |
| 1 | g.6144022A>G | CA338081327 | CHD5 | c.1934+2T>C (n.1934+2T>C) c.81+2T>C | |
| 1 | g.6144022A>T | CA338081329 | CHD5 | c.1934+2T>A (n.1934+2T>A) c.81+2T>A | |
| 1 | g.6144023C>A | CA338081331 | CHD5 | c.1934+1G>T (n.1934+1G>T) c.81+1G>T | |
| 1 | g.6144023C>G | CA338081332 | CHD5 | c.1934+1G>C (n.1934+1G>C) c.81+1G>C | |
| 1 | g.6144023C>T | CA338081333 | CHD5 | c.1934+1G>A (n.1934+1G>A) c.81+1G>A | |
| 1 | g.6144024_6144033del | CA2574190297 | CHD5 | c.1926_1934+1del c.73_81+1del | |
| 1 | g.6144024C>A | CA338081335 | CHD5 | c.1934G>T (p.Arg645Met) c.81G>T | |
| 1 | g.6144024C>G | CA338081339 | CHD5 | c.1934G>C (p.Arg645Thr) c.81G>C | |
| 1 | g.6144024C>T | CA338081337 | CHD5 | c.1934G>A (p.Arg645Lys) c.81G>A | |
| 1 | g.6144025T>A | CA338081341 | CHD5 | c.1933A>T (p.Arg645Trp) c.80A>T | |
| 1 | g.6144025T>C | CA338081343 | CHD5 | c.1933A>G (p.Arg645Gly) c.80A>G | |
| 1 | g.6144025T>G | CA415805270 | CHD5 | c.1933A>C (p.Arg645=) c.80A>C | |
| 1 | g.6144026G>A | CA415805271 | CHD5 | c.1932C>T (p.His644=) c.79C>T | |
| 1 | g.6144026G>C | CA338081345 | CHD5 | c.1932C>G (p.His644Gln) c.79C>G | |
| 1 | g.6144026G= | CA1144166071 | CHD5 | c.1932C= (p.His644=) c.79C= | |
| 1 | g.6144026G>T | CA556917 | CHD5 | c.1932C>A (p.His644Gln) c.79C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144027T>A | CA338081348 | CHD5 | c.1931A>T (p.His644Leu) c.78A>T | |
| 1 | g.6144027T>C | CA338081349 | CHD5 | c.1931A>G (p.His644Arg) c.78A>G | |
| 1 | g.6144027T>G | CA338081351 | CHD5 | c.1931A>C (p.His644Pro) c.78A>C | |
| 1 | g.6144028G>A | CA338081353 | CHD5 | c.1930C>T (p.His644Tyr) c.77C>T | |
| 1 | g.6144028G>C | CA338081355 | CHD5 | c.1930C>G (p.His644Asp) c.77C>G | |
| 1 | g.6144028G>T | CA338081356 | CHD5 | c.1930C>A (p.His644Asn) c.77C>A | |
| 1 | g.6144029G>A | CA415805282 | CHD5 | c.1929C>T (p.Gly643=) c.76C>T | gnomAD v4 |
| 1 | g.6144029G>C | CA415805283 | CHD5 | c.1929C>G (p.Gly643=) c.76C>G | |
| 1 | g.6144029G>T | CA415805286 | CHD5 | c.1929C>A (p.Gly643=) c.76C>A | |
| 1 | g.6144030C>A | CA338081359 | CHD5 | c.1928G>T (p.Gly643Val) c.75G>T | |
| 1 | g.6144030C= | CA1151361022 | CHD5 | c.1928G= (p.Gly643=) c.75G= | |
| 1 | g.6144030C>G | CA338081360 | CHD5 | c.1928G>C (p.Gly643Ala) c.75G>C | |
| 1 | g.6144030C>T | CA338081362 | CHD5 | c.1928G>A (p.Gly643Asp) c.75G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144031C>A | CA338081366 | CHD5 | c.1927G>T (p.Gly643Cys) c.74G>T | dbSNP gnomAD v2 |
| 1 | g.6144031C= | CA1151361026 | CHD5 | c.1927G= (p.Gly643=) c.74G= | |
| 1 | g.6144031C>G | CA338081364 | CHD5 | c.1927G>C (p.Gly643Arg) c.74G>C | |
| 1 | g.6144031C>T | CA17171297 | CHD5 | c.1927G>A (p.Gly643Ser) c.74G>A | dbSNP gnomAD v4 |
| 1 | g.6144032C>A | CA338081368 | CHD5 | c.1926G>T (p.Trp642Cys) c.73G>T | |
| 1 | g.6144032C>G | CA338081369 | CHD5 | c.1926G>C (p.Trp642Cys) c.73G>C | |
| 1 | g.6144032C>T | CA338081371 | CHD5 | c.1926G>A (p.Trp642Ter) c.73G>A | |
| 1 | g.6144033C>A | CA338081373 | CHD5 | c.1925G>T (p.Trp642Leu) c.72G>T | |
| 1 | g.6144033C>G | CA338081374 | CHD5 | c.1925G>C (p.Trp642Ser) c.72G>C | |
| 1 | g.6144033C>T | CA338081376 | CHD5 | c.1925G>A (p.Trp642Ter) c.72G>A | |
| 1 | g.6144034A>C | CA338081378 | CHD5 | c.1924T>G (p.Trp642Gly) c.71T>G | |
| 1 | g.6144034A>G | CA338081380 | CHD5 | c.1924T>C (p.Trp642Arg) c.71T>C | |
| 1 | g.6144034A>T | CA338081382 | CHD5 | c.1924T>A (p.Trp642Arg) c.71T>A | |
| 1 | g.6144035G>A | CA415805304 | CHD5 | c.1923C>T (p.Tyr641=) c.70C>T | COSMIC |
| 1 | g.6144035G>C | CA338081383 | CHD5 | c.1923C>G (p.Tyr641Ter) c.70C>G | |
| 1 | g.6144035G>T | CA338081385 | CHD5 | c.1923C>A (p.Tyr641Ter) c.70C>A | |
| 1 | g.6144036T>A | CA338081387 | CHD5 | c.1922A>T (p.Tyr641Phe) c.69A>T | |
| 1 | g.6144036T>C | CA338081388 | CHD5 | c.1922A>G (p.Tyr641Cys) c.69A>G | |
| 1 | g.6144036T>G | CA338081390 | CHD5 | c.1922A>C (p.Tyr641Ser) c.69A>C | |
| 1 | g.6144037A>C | CA338081394 | CHD5 | c.1921T>G (p.Tyr641Asp) c.68T>G | |
| 1 | g.6144037A>G | CA338081396 | CHD5 | c.1921T>C (p.Tyr641His) c.68T>C | |
| 1 | g.6144037A>T | CA338081392 | CHD5 | c.1921T>A (p.Tyr641Asn) c.68T>A | |
| 1 | g.6144038G>A | CA415805311 | CHD5 | c.1920C>T (p.Ala640=) c.67C>T | |
| 1 | g.6144038G>C | CA415805313 | CHD5 | c.1920C>G (p.Ala640=) c.67C>G | |
| 1 | g.6144038G>T | CA415805316 | CHD5 | c.1920C>A (p.Ala640=) c.67C>A | |
| 1 | g.6144039G>A | CA338081398 | CHD5 | c.1919C>T (p.Ala640Val) c.66C>T | COSMIC |
| 1 | g.6144039G>C | CA338081399 | CHD5 | c.1919C>G (p.Ala640Gly) c.66C>G | |
| 1 | g.6144039G>T | CA338081400 | CHD5 | c.1919C>A (p.Ala640Asp) c.66C>A | |
| 1 | g.6144040C>A | CA338081401 | CHD5 | c.1918G>T (p.Ala640Ser) c.65G>T | |
| 1 | g.6144040C= | CA1143709574 | CHD5 | c.1918G= (p.Ala640=) c.65G= | |
| 1 | g.6144040C>G | CA338081403 | CHD5 | c.1918G>C (p.Ala640Pro) c.65G>C | |
| 1 | g.6144040C>T | CA556918 | CHD5 | c.1918G>A (p.Ala640Thr) c.65G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144041C>A | CA338081406 | CHD5 | c.1917G>T (p.Gln639His) c.64G>T | |
| 1 | g.6144041C>G | CA338081407 | CHD5 | c.1917G>C (p.Gln639His) c.64G>C | |
| 1 | g.6144041C>T | CA415805329 | CHD5 | c.1917G>A (p.Gln639=) c.64G>A | |
| 1 | g.6144042T>A | CA338081410 | CHD5 | c.1916A>T (p.Gln639Leu) c.63A>T | |
| 1 | g.6144042T>C | CA338081411 | CHD5 | c.1916A>G (p.Gln639Arg) c.63A>G | |
| 1 | g.6144042T>G | CA338081413 | CHD5 | c.1916A>C (p.Gln639Pro) c.63A>C | |
| 1 | g.6144043G>A | CA338081414 | CHD5 | c.1915C>T (p.Gln639Ter) c.62C>T | |
| 1 | g.6144043G>C | CA338081415 | CHD5 | c.1915C>G (p.Gln639Glu) c.62C>G | |
| 1 | g.6144043G>T | CA338081417 | CHD5 | c.1915C>A (p.Gln639Lys) c.62C>A | |
| 1 | g.6144044C>A | CA338081419 | CHD5 | c.1914G>T (p.Lys638Asn) c.61G>T | |
| 1 | g.6144044C>G | CA338081421 | CHD5 | c.1914G>C (p.Lys638Asn) c.61G>C | |
| 1 | g.6144044C>T | CA415805338 | CHD5 | c.1914G>A (p.Lys638=) c.61G>A | |
| 1 | g.6144045T>A | CA338081422 | CHD5 | c.1913A>T (p.Lys638Met) c.60A>T | |
| 1 | g.6144045T>C | CA556919 | CHD5 | c.1913A>G (p.Lys638Arg) c.60A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144045T>G | CA338081425 | CHD5 | c.1913A>C (p.Lys638Thr) c.60A>C | |
| 1 | g.6144045T= | CA1149113508 | CHD5 | c.1913A= (p.Lys638=) c.60A= | |
| 1 | g.6144046T>A | CA338081427 | CHD5 | c.1912A>T (p.Lys638Ter) c.59A>T | |
| 1 | g.6144046T>C | CA338081428 | CHD5 | c.1912A>G (p.Lys638Glu) c.59A>G | |
| 1 | g.6144046T>G | CA338081429 | CHD5 | c.1912A>C (p.Lys638Gln) c.59A>C | gnomAD v4 |
| 1 | g.6144047G>A | CA556920 | CHD5 | c.1911C>T (p.Leu637=) c.58C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144047G>C | CA556921 | CHD5 | c.1911C>G (p.Leu637=) c.58C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144047G= | CA1144025803 | CHD5 | c.1911C= (p.Leu637=) c.58C= | |
| 1 | g.6144047G>T | CA415805353 | CHD5 | c.1911C>A (p.Leu637=) c.58C>A | |
| 1 | g.6144048A>C | CA338081433 | CHD5 | c.1910T>G (p.Leu637Arg) c.57T>G | |
| 1 | g.6144048A>G | CA338081435 | CHD5 | c.1910T>C (p.Leu637Pro) c.57T>C | |
| 1 | g.6144048A>T | CA338081436 | CHD5 | c.1910T>A (p.Leu637His) c.57T>A | |
| 1 | g.6144049G>A | CA338081438 | CHD5 | c.1909C>T (p.Leu637Phe) c.56C>T | |
| 1 | g.6144049G>C | CA556922 | CHD5 | c.1909C>G (p.Leu637Val) c.56C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144049G= | CA1148876508 | CHD5 | c.1909C= (p.Leu637=) c.56C= | |
| 1 | g.6144049G>T | CA338081440 | CHD5 | c.1909C>A (p.Leu637Ile) c.56C>A | |
| 1 | g.6144050G>A | CA415805370 | CHD5 | c.1908C>T (p.Asn636=) c.55C>T | gnomAD v4 |
| 1 | g.6144050G>C | CA338081442 | CHD5 | c.1908C>G (p.Asn636Lys) c.55C>G | |
| 1 | g.6144050G>T | CA338081444 | CHD5 | c.1908C>A (p.Asn636Lys) c.55C>A | gnomAD v4 |
| 1 | g.6144051T>A | CA338081446 | CHD5 | c.1907A>T (p.Asn636Ile) c.54A>T | gnomAD v4 |
| 1 | g.6144051T>C | CA338081448 | CHD5 | c.1907A>G (p.Asn636Ser) c.54A>G | |
| 1 | g.6144051T>G | CA338081449 | CHD5 | c.1907A>C (p.Asn636Thr) c.54A>C | |
| 1 | g.6144052T>A | CA338081451 | CHD5 | c.1906A>T (p.Asn636Tyr) c.53A>T | |
| 1 | g.6144052T>C | CA338081453 | CHD5 | c.1906A>G (p.Asn636Asp) c.53A>G | |
| 1 | g.6144052T>G | CA338081455 | CHD5 | c.1906A>C (p.Asn636His) c.53A>C | |
| 1 | g.6144053G>A | CA415805382 | CHD5 | c.1905C>T (p.Asp635=) c.52C>T | |
| 1 | g.6144053G>C | CA338081456 | CHD5 | c.1905C>G (p.Asp635Glu) c.52C>G | |
| 1 | g.6144053G>T | CA338081457 | CHD5 | c.1905C>A (p.Asp635Glu) c.52C>A | gnomAD v4 |
| 1 | g.6144054T>A | CA338081459 | CHD5 | c.1904A>T (p.Asp635Val) c.51A>T | |
| 1 | g.6144054T>C | CA338081460 | CHD5 | c.1904A>G (p.Asp635Gly) c.51A>G | |
| 1 | g.6144054T>G | CA338081462 | CHD5 | c.1904A>C (p.Asp635Ala) c.51A>C | |
| 1 | g.6144055C>A | CA338081464 | CHD5 | c.1903G>T (p.Asp635Tyr) c.50G>T | |
| 1 | g.6144055C= | CA1151361037 | CHD5 | c.1903G= (p.Asp635=) c.50G= | |
| 1 | g.6144055C>G | CA338081466 | CHD5 | c.1903G>C (p.Asp635His) c.50G>C | |
| 1 | g.6144055C>T | CA17171309 | CHD5 | c.1903G>A (p.Asp635Asn) c.50G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.6144056G>A | CA556923 | CHD5 | c.1902C>T (p.Tyr634=) c.49C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144056G>C | CA338081471 | CHD5 | c.1902C>G (p.Tyr634Ter) c.49C>G | |
| 1 | g.6144056G= | CA1151361040 | CHD5 | c.1902C= (p.Tyr634=) c.49C= | |
| 1 | g.6144056G>T | CA338081470 | CHD5 | c.1902C>A (p.Tyr634Ter) c.49C>A | |
| 1 | g.6144057T>A | CA338081473 | CHD5 | c.1901A>T (p.Tyr634Phe) c.48A>T | |
| 1 | g.6144057T>C | CA338081475 | CHD5 | c.1901A>G (p.Tyr634Cys) c.48A>G | gnomAD v4 |
| 1 | g.6144057T>G | CA338081477 | CHD5 | c.1901A>C (p.Tyr634Ser) c.48A>C | |
| 1 | g.6144058A>C | CA338081479 | CHD5 | c.1900T>G (p.Tyr634Asp) c.47T>G | |
| 1 | g.6144058A>G | CA338081481 | CHD5 | c.1900T>C (p.Tyr634His) c.47T>C | |
| 1 | g.6144058A>T | CA338081483 | CHD5 | c.1900T>A (p.Tyr634Asn) c.47T>A | |
| 1 | g.6144059G>A | CA556924 | CHD5 | c.1899C>T (p.Tyr633=) c.46C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144059G>C | CA338081485 | CHD5 | c.1899C>G (p.Tyr633Ter) c.46C>G | |
| 1 | g.6144059G= | CA1151361042 | CHD5 | c.1899C= (p.Tyr633=) c.46C= | |
| 1 | g.6144059G>T | CA338081487 | CHD5 | c.1899C>A (p.Tyr633Ter) c.46C>A | |
| 1 | g.6144060T>A | CA338081488 | CHD5 | c.1898A>T (p.Tyr633Phe) c.45A>T | |
| 1 | g.6144060T>C | CA338081489 | CHD5 | c.1898A>G (p.Tyr633Cys) c.45A>G | gnomAD v4 |
| 1 | g.6144060T>G | CA338081490 | CHD5 | c.1898A>C (p.Tyr633Ser) c.45A>C | |
| 1 | g.6144061A>C | CA338081491 | CHD5 | c.1897T>G (p.Tyr633Asp) c.44T>G | |
| 1 | g.6144061A>G | CA338081494 | CHD5 | c.1897T>C (p.Tyr633His) c.44T>C | |
| 1 | g.6144061A>T | CA338081493 | CHD5 | c.1897T>A (p.Tyr633Asn) c.44T>A | |
| 1 | g.6144062G>A | CA415805420 | CHD5 | c.1896C>T (p.Pro632=) c.43C>T | |
| 1 | g.6144062G>C | CA556925 | CHD5 | c.1896C>G (p.Pro632=) c.43C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144062G= | CA1151361045 | CHD5 | c.1896C= (p.Pro632=) c.43C= | |
| 1 | g.6144062G>T | CA415805424 | CHD5 | c.1896C>A (p.Pro632=) c.43C>A | |
| 1 | g.6144063G>A | CA338081497 | CHD5 | c.1895C>T (p.Pro632Leu) c.42C>T | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6144063G>C | CA338081499 | CHD5 | c.1895C>G (p.Pro632Arg) c.42C>G | |
| 1 | g.6144063G= | CA1151361049 | CHD5 | c.1895C= (p.Pro632=) c.42C= | |
| 1 | g.6144063G>T | CA338081501 | CHD5 | c.1895C>A (p.Pro632His) c.42C>A | |
| 1 | g.6144064G>A | CA338081502 | CHD5 | c.1894C>T (p.Pro632Ser) c.41C>T | |
| 1 | g.6144064G>C | CA338081504 | CHD5 | c.1894C>G (p.Pro632Ala) c.41C>G | gnomAD v4 |
| 1 | g.6144064G>T | CA338081506 | CHD5 | c.1894C>A (p.Pro632Thr) c.41C>A | |
| 1 | g.6144065G>A | CA415805431 | CHD5 | c.1893C>T (p.Ile631=) c.40C>T | dbSNP |
| 1 | g.6144065G>C | CA338081508 | CHD5 | c.1893C>G (p.Ile631Met) c.40C>G | |
| 1 | g.6144065G= | CA1151361050 | CHD5 | c.1893C= (p.Ile631=) c.40C= | |
| 1 | g.6144065G>T | CA415805433 | CHD5 | c.1893C>A (p.Ile631=) c.40C>A | gnomAD v4 |
| 1 | g.6144066A>C | CA338081510 | CHD5 | c.1892T>G (p.Ile631Ser) c.39T>G | |
| 1 | g.6144066A>G | CA338081512 | CHD5 | c.1892T>C (p.Ile631Thr) c.39T>C | |
| 1 | g.6144066A>T | CA338081513 | CHD5 | c.1892T>A (p.Ile631Asn) c.39T>A | |
| 1 | g.6144067T>A | CA338081514 | CHD5 | c.1891A>T (p.Ile631Phe) c.38A>T | |
| 1 | g.6144067T>C | CA338081515 | CHD5 | c.1891A>G (p.Ile631Val) c.38A>G | |
| 1 | g.6144067T>G | CA338081517 | CHD5 | c.1891A>C (p.Ile631Leu) c.38A>C | dbSNP |
| 1 | g.6144067T= | CA1151361051 | CHD5 | c.1891A= (p.Ile631=) c.38A= | |
| 1 | g.6144068G>A | CA415805443 | CHD5 | c.1890C>T (p.Asp630=) c.37C>T | gnomAD v4 |
| 1 | g.6144068G>C | CA338081519 | CHD5 | c.1890C>G (p.Asp630Glu) c.37C>G | |
| 1 | g.6144068G>T | CA338081521 | CHD5 | c.1890C>A (p.Asp630Glu) c.37C>A | gnomAD v4 |
| 1 | g.6144069T>A | CA338081523 | CHD5 | c.1889A>T (p.Asp630Val) c.36A>T | |
| 1 | g.6144069T>C | CA338081524 | CHD5 | c.1889A>G (p.Asp630Gly) c.36A>G | |
| 1 | g.6144069T>G | CA338081526 | CHD5 | c.1889A>C (p.Asp630Ala) c.36A>C | |
| 1 | g.6144070C>A | CA338081528 | CHD5 | c.1888G>T (p.Asp630Tyr) c.35G>T | |
| 1 | g.6144070C>G | CA338081529 | CHD5 | c.1888G>C (p.Asp630His) c.35G>C | |
| 1 | g.6144070C>T | CA338081531 | CHD5 | c.1888G>A (p.Asp630Asn) c.35G>A | gnomAD v4 |
| 1 | g.6144071G>A | CA556926 | CHD5 | c.1887C>T (p.Ile629=) c.34C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.6144071G>C | CA338081533 | CHD5 | c.1887C>G (p.Ile629Met) c.34C>G | |
| 1 | g.6144071G= | CA1151361052 | CHD5 | c.1887C= (p.Ile629=) c.34C= | |
| 1 | g.6144071G>T | CA415805456 | CHD5 | c.1887C>A (p.Ile629=) c.34C>A | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6144072A>C | CA338081535 | CHD5 | c.1886T>G (p.Ile629Ser) c.33T>G | |
| 1 | g.6144072A>G | CA338081537 | CHD5 | c.1886T>C (p.Ile629Thr) c.33T>C | |
| 1 | g.6144072A>T | CA338081539 | CHD5 | c.1886T>A (p.Ile629Asn) c.33T>A | |
| 1 | g.6144073T>A | CA338081541 | CHD5 | c.1885A>T (p.Ile629Phe) c.32A>T | |
| 1 | g.6144073T>C | CA338081545 | CHD5 | c.1885A>G (p.Ile629Val) c.32A>G | |
| 1 | g.6144073T>G | CA338081543 | CHD5 | c.1885A>C (p.Ile629Leu) c.32A>C | |
| 1 | g.6144074G>A | CA415805472 | CHD5 | c.1884C>T (p.Asp628=) c.31C>T | gnomAD v4 |
| 1 | g.6144074G>C | CA338081547 | CHD5 | c.1884C>G (p.Asp628Glu) c.31C>G | |
| 1 | g.6144074G>T | CA338081549 | CHD5 | c.1884C>A (p.Asp628Glu) c.31C>A | |
| 1 | g.6144075T>A | CA338081551 | CHD5 | c.1883A>T (p.Asp628Val) c.30A>T | |
| 1 | g.6144075T>C | CA338081552 | CHD5 | c.1883A>G (p.Asp628Gly) c.30A>G | dbSNP gnomAD v4 |
| 1 | g.6144075T>G | CA338081554 | CHD5 | c.1883A>C (p.Asp628Ala) c.30A>C | |
| 1 | g.6144075T= | CA1151361054 | CHD5 | c.1883A= (p.Asp628=) c.30A= | |
| 1 | g.6144076C>A | CA338081556 | CHD5 | c.1882G>T (p.Asp628Tyr) c.29G>T | |
| 1 | g.6144076C>G | CA338081558 | CHD5 | c.1882G>C (p.Asp628His) c.29G>C | gnomAD v4 |
| 1 | g.6144076C>T | CA338081559 | CHD5 | c.1882G>A (p.Asp628Asn) c.29G>A | |
| 1 | g.6144077A= | CA1151361057 | CHD5 | c.1881T= (p.Asp627=) c.28T= | |
| 1 | g.6144077A>C | CA338081560 | CHD5 | c.1881T>G (p.Asp627Glu) c.28T>G | |
| 1 | g.6144077A>G | CA415805483 | CHD5 | c.1881T>C (p.Asp627=) c.28T>C | dbSNP |
| 1 | g.6144077A>T | CA338081562 | CHD5 | c.1881T>A (p.Asp627Glu) c.28T>A | |
| 1 | g.6144078T>A | CA338081564 | CHD5 | c.1880A>T (p.Asp627Val) c.27A>T | |
| 1 | g.6144078T>C | CA338081565 | CHD5 | c.1880A>G (p.Asp627Gly) c.27A>G | |
| 1 | g.6144078T>G | CA338081567 | CHD5 | c.1880A>C (p.Asp627Ala) c.27A>C | |
| 1 | g.6144079C>A | CA338081572 | CHD5 | c.1879G>T (p.Asp627Tyr) c.26G>T | |
| 1 | g.6144079C>G | CA338081571 | CHD5 | c.1879G>C (p.Asp627His) c.26G>C | |
| 1 | g.6144079C>T | CA338081569 | CHD5 | c.1879G>A (p.Asp627Asn) c.26G>A | dbSNP gnomAD v4 |
| 1 | g.6144080G>A | CA556927 | CHD5 | c.1878C>T (p.Ile626=) c.25C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.6144080G>C | CA556928 | CHD5 | c.1878C>G (p.Ile626Met) c.25C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144080G= | CA1151361061 | CHD5 | c.1878C= (p.Ile626=) c.25C= | |
| 1 | g.6144080G>T | CA415805498 | CHD5 | c.1878C>A (p.Ile626=) c.25C>A | |
| 1 | g.6144081A>C | CA338081576 | CHD5 | c.1877T>G (p.Ile626Ser) c.24T>G | |
| 1 | g.6144081A>G | CA338081578 | CHD5 | c.1877T>C (p.Ile626Thr) c.24T>C | ClinVar gnomAD v4 |
| 1 | g.6144081A>T | CA338081580 | CHD5 | c.1877T>A (p.Ile626Asn) c.24T>A | |
| 1 | g.6144082T>A | CA338081582 | CHD5 | c.1876A>T (p.Ile626Phe) c.23A>T | |
| 1 | g.6144082T>C | CA338081583 | CHD5 | c.1876A>G (p.Ile626Val) c.23A>G | |
| 1 | g.6144082T>G | CA338081585 | CHD5 | c.1876A>C (p.Ile626Leu) c.23A>C | |
| 1 | g.6144083C>A | CA338081587 | CHD5 | c.1875G>T (p.Glu625Asp) c.22G>T | |
| 1 | g.6144083C>G | CA338081589 | CHD5 | c.1875G>C (p.Glu625Asp) c.22G>C | |
| 1 | g.6144083C>T | CA415805505 | CHD5 | c.1875G>A (p.Glu625=) c.22G>A | |
| 1 | g.6144084T>A | CA338081591 | CHD5 | c.1874A>T (p.Glu625Val) c.21A>T | |
| 1 | g.6144084T>C | CA338081593 | CHD5 | c.1874A>G (p.Glu625Gly) c.21A>G | |
| 1 | g.6144084T>G | CA338081594 | CHD5 | c.1874A>C (p.Glu625Ala) c.21A>C | |
| 1 | g.6144085C>A | CA338081597 | CHD5 | c.1873G>T (p.Glu625Ter) c.20G>T | |
| 1 | g.6144085C>G | CA338081598 | CHD5 | c.1873G>C (p.Glu625Gln) c.20G>C | |
| 1 | g.6144085C>T | CA338081596 | CHD5 | c.1873G>A (p.Glu625Lys) c.20G>A | |
| 1 | g.6144086C>A | CA338081599 | CHD5 | c.1872G>T (p.Trp624Cys) c.19G>T | |
| 1 | g.6144086C>G | CA338081602 | CHD5 | c.1872G>C (p.Trp624Cys) c.19G>C | |
| 1 | g.6144086C>T | CA338081603 | CHD5 | c.1872G>A (p.Trp624Ter) c.19G>A | |
| 1 | g.6144087C>A | CA338081606 | CHD5 | c.1871G>T (p.Trp624Leu) c.18G>T | |
| 1 | g.6144087C>G | CA338081607 | CHD5 | c.1871G>C (p.Trp624Ser) c.18G>C | |
| 1 | g.6144087C>T | CA338081609 | CHD5 | c.1871G>A (p.Trp624Ter) c.18G>A | |
| 1 | g.6144088A>C | CA338081610 | CHD5 | c.1870T>G (p.Trp624Gly) c.17T>G | |
| 1 | g.6144088A>G | CA338081612 | CHD5 | c.1870T>C (p.Trp624Arg) c.17T>C | |
| 1 | g.6144088A>T | CA338081614 | CHD5 | c.1870T>A (p.Trp624Arg) c.17T>A | |
| 1 | g.6144089G>A | CA415805508 | CHD5 | c.1869C>T (p.Thr623=) c.16C>T | gnomAD v4 |
| 1 | g.6144089G>C | CA415805509 | CHD5 | c.1869C>G (p.Thr623=) c.16C>G | |
| 1 | g.6144089G>T | CA415805510 | CHD5 | c.1869C>A (p.Thr623=) c.16C>A | |
| 1 | g.6144090G>A | CA338081616 | CHD5 | c.1868C>T (p.Thr623Ile) c.15C>T | |
| 1 | g.6144090G>C | CA338081618 | CHD5 | c.1868C>G (p.Thr623Ser) c.15C>G | |
| 1 | g.6144090G= | CA1141807840 | CHD5 | c.1868C= (p.Thr623=) c.15C= | |
| 1 | g.6144090G>T | CA556929 | CHD5 | c.1868C>A (p.Thr623Asn) c.15C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144091T>A | CA338081624 | CHD5 | c.1867A>T (p.Thr623Ser) c.14A>T | |
| 1 | g.6144091T>C | CA338081620 | CHD5 | c.1867A>G (p.Thr623Ala) c.14A>G | |
| 1 | g.6144091T>G | CA338081622 | CHD5 | c.1867A>C (p.Thr623Pro) c.14A>C | gnomAD v4 |
| 1 | g.6144092G>A | CA415805511 | CHD5 | c.1866C>T (p.Cys622=) c.13C>T | |
| 1 | g.6144092G>C | CA338081626 | CHD5 | c.1866C>G (p.Cys622Trp) c.13C>G | |
| 1 | g.6144092G>T | CA338081627 | CHD5 | c.1866C>A (p.Cys622Ter) c.13C>A | |
| 1 | g.6144093C>A | CA338081629 | CHD5 | c.1865G>T (p.Cys622Phe) c.12G>T | |
| 1 | g.6144093C>G | CA338081631 | CHD5 | c.1865G>C (p.Cys622Ser) c.12G>C | |
| 1 | g.6144093C>T | CA338081633 | CHD5 | c.1865G>A (p.Cys622Tyr) c.12G>A | |
| 1 | g.6144094A>C | CA338081635 | CHD5 | c.1864T>G (p.Cys622Gly) c.11T>G | |
| 1 | g.6144094A>G | CA338081637 | CHD5 | c.1864T>C (p.Cys622Arg) c.11T>C | |
| 1 | g.6144094A>T | CA338081638 | CHD5 | c.1864T>A (p.Cys622Ser) c.11T>A | dbSNP |
| 1 | g.6144095C>A | CA338081640 | CHD5 | c.1863G>T (p.Gln621His) c.10G>T | |
| 1 | g.6144095C= | CA1151361065 | CHD5 | c.1863G= (p.Gln621=) c.10G= | |
| 1 | g.6144095C>G | CA338081642 | CHD5 | c.1863G>C (p.Gln621His) c.10G>C | |
| 1 | g.6144095C>T | CA556930 | CHD5 | c.1863G>A (p.Gln621=) c.10G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144096T>A | CA338081648 | CHD5 | c.1862A>T (p.Gln621Leu) c.9A>T | |
| 1 | g.6144096T>C | CA338081646 | CHD5 | c.1862A>G (p.Gln621Arg) c.9A>G | gnomAD v4 |
| 1 | g.6144096T>G | CA338081645 | CHD5 | c.1862A>C (p.Gln621Pro) c.9A>C | |
| 1 | g.6144097G>A | CA338081649 | CHD5 | c.1861C>T (p.Gln621Ter) c.8C>T | |
| 1 | g.6144097G>C | CA338081653 | CHD5 | c.1861C>G (p.Gln621Glu) c.8C>G | |
| 1 | g.6144097G>T | CA338081651 | CHD5 | c.1861C>A (p.Gln621Lys) c.8C>A | |
| 1 | g.6144098G>A | CA415805515 | CHD5 | c.1860C>T (p.Asp620=) c.7C>T | |
| 1 | g.6144098G>C | CA338081655 | CHD5 | c.1860C>G (p.Asp620Glu) c.7C>G | |
| 1 | g.6144098G>T | CA338081657 | CHD5 | c.1860C>A (p.Asp620Glu) c.7C>A | |
| 1 | g.6144099T>A | CA338081658 | CHD5 | c.1859A>T (p.Asp620Val) c.6A>T | |
| 1 | g.6144099T>C | CA338081660 | CHD5 | c.1859A>G (p.Asp620Gly) c.6A>G | |
| 1 | g.6144099T>G | CA338081659 | CHD5 | c.1859A>C (p.Asp620Ala) c.6A>C | |
| 1 | g.6144100C>A | CA556931 | CHD5 | c.1858G>T (p.Asp620Tyr) c.5G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144100C= | CA1146342399 | CHD5 | c.1858G= (p.Asp620=) c.5G= | |
| 1 | g.6144100C>G | CA338081661 | CHD5 | c.1858G>C (p.Asp620His) c.5G>C | |
| 1 | g.6144100C>T | CA17171332 | CHD5 | c.1858G>A (p.Asp620Asn) c.5G>A | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144101G>A | CA556932 | CHD5 | c.1857C>T (p.Tyr619=) c.4C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144101G>C | CA338081666 | CHD5 | c.1857C>G (p.Tyr619Ter) c.4C>G | |
| 1 | g.6144101G= | CA1140469462 | CHD5 | c.1857C= (p.Tyr619=) c.4C= | |
| 1 | g.6144101G>T | CA338081664 | CHD5 | c.1857C>A (p.Tyr619Ter) c.4C>A | |
| 1 | g.6144102T>A | CA338081668 | CHD5 | c.1856A>T (p.Tyr619Phe) c.3A>T | |
| 1 | g.6144102T>C | CA338081672 | CHD5 | c.1856A>G (p.Tyr619Cys) c.3A>G | |
| 1 | g.6144102T>G | CA338081670 | CHD5 | c.1856A>C (p.Tyr619Ser) c.3A>C | |
| 1 | g.6144103A= | CA1151361068 | CHD5 | c.1855T= (p.Tyr619=) c.2T= | |
| 1 | g.6144103A>C | CA338081674 | CHD5 | c.1855T>G (p.Tyr619Asp) c.2T>G | |
| 1 | g.6144103A>G | CA338081677 | CHD5 | c.1855T>C (p.Tyr619His) c.2T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144103A>T | CA338081676 | CHD5 | c.1855T>A (p.Tyr619Asn) c.2T>A | |
| 1 | g.6144104G>A | CA556933 | CHD5 | c.1854C>T (p.Pro618=) c.1C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144104G>C | CA415805521 | CHD5 | c.1854C>G (p.Pro618=) c.1C>G | |
| 1 | g.6144104G= | CA1151361071 | CHD5 | c.1854C= (p.Pro618=) c.1C= | |
| 1 | g.6144104G>T | CA415805522 | CHD5 | c.1854C>A (p.Pro618=) c.1C>A | |
| 1 | g.6144105G>A | CA338081684 | CHD5 | c.1853C>T (p.Pro618Leu) | COSMIC |
| 1 | g.6144105G>C | CA338081681 | CHD5 | c.1853C>G (p.Pro618Arg) | gnomAD v4 |
| 1 | g.6144105G>T | CA338081682 | CHD5 | c.1853C>A (p.Pro618His) | |
| 1 | g.6144106G>A | CA338081686 | CHD5 | c.1852C>T (p.Pro618Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144106G>C | CA338081688 | CHD5 | c.1852C>G (p.Pro618Ala) | |
| 1 | g.6144106G= | CA1151361074 | CHD5 | c.1852C= (p.Pro618=) | |
| 1 | g.6144106G>T | CA338081689 | CHD5 | c.1852C>A (p.Pro618Thr) | |
| 1 | g.6144107C>A | CA415805526 | CHD5 | c.1851G>T (p.Leu617=) | COSMIC |
| 1 | g.6144107C= | CA1151361077 | CHD5 | c.1851G= (p.Leu617=) | |
| 1 | g.6144107C>G | CA415805524 | CHD5 | c.1851G>C (p.Leu617=) | |
| 1 | g.6144107C>T | CA415805525 | CHD5 | c.1851G>A (p.Leu617=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144108A>C | CA338081690 | CHD5 | c.1850T>G (p.Leu617Arg) | |
| 1 | g.6144108A>G | CA338081691 | CHD5 | c.1850T>C (p.Leu617Pro) | |
| 1 | g.6144108A>T | CA338081692 | CHD5 | c.1850T>A (p.Leu617Gln) | |
| 1 | g.6144109G>A | CA415805527 | CHD5 | c.1849C>T (p.Leu617=) | |
| 1 | g.6144109G>C | CA338081693 | CHD5 | c.1849C>G (p.Leu617Val) | |
| 1 | g.6144109G= | CA1151361079 | CHD5 | c.1849C= (p.Leu617=) | |
| 1 | g.6144109G>T | CA338081694 | CHD5 | c.1849C>A (p.Leu617Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144110G>A | CA415805528 | CHD5 | c.1848C>T (p.Asp616=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6144110G>C | CA338081695 | CHD5 | c.1848C>G (p.Asp616Glu) | |
| 1 | g.6144110G= | CA1151361081 | CHD5 | c.1848C= (p.Asp616=) | |
| 1 | g.6144110G>T | CA338081696 | CHD5 | c.1848C>A (p.Asp616Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6144111T>A | CA338081697 | CHD5 | c.1847A>T (p.Asp616Val) | |
| 1 | g.6144111T>C | CA338081698 | CHD5 | c.1847A>G (p.Asp616Gly) | |
| 1 | g.6144111T>G | CA338081699 | CHD5 | c.1847A>C (p.Asp616Ala) | |
| 1 | g.6144112C>A | CA338081700 | CHD5 | c.1846G>T (p.Asp616Tyr) | |
| 1 | g.6144112C>G | CA338081702 | CHD5 | c.1846G>C (p.Asp616His) | |
| 1 | g.6144112C>T | CA338081701 | CHD5 | c.1846G>A (p.Asp616Asn) | |
| 1 | g.6144113T>A | CA338081703 | CHD5 | c.1845A>T (p.Lys615Asn) | COSMIC |
| 1 | g.6144113T>C | CA415805530 | CHD5 | c.1845A>G (p.Lys615=) | |
| 1 | g.6144113T>G | CA338081704 | CHD5 | c.1845A>C (p.Lys615Asn) | |
| 1 | g.6144114T>A | CA338081705 | CHD5 | c.1844A>T (p.Lys615Ile) | |
| 1 | g.6144114T>C | CA338081706 | CHD5 | c.1844A>G (p.Lys615Arg) | |
| 1 | g.6144114T>G | CA338081707 | CHD5 | c.1844A>C (p.Lys615Thr) | |
| 1 | g.6144115T>A | CA338081708 | CHD5 | c.1843A>T (p.Lys615Ter) | |
| 1 | g.6144115T>C | CA338081709 | CHD5 | c.1843A>G (p.Lys615Glu) | ClinVar |
| 1 | g.6144115T>G | CA338081710 | CHD5 | c.1843A>C (p.Lys615Gln) | |
| 1 | g.6144116C>A | CA338081711 | CHD5 | c.1842G>T (p.Trp614Cys) | |
| 1 | g.6144116C>G | CA338081712 | CHD5 | c.1842G>C (p.Trp614Cys) | |
| 1 | g.6144116C>T | CA338081713 | CHD5 | c.1842G>A (p.Trp614Ter) | COSMIC |
| 1 | g.6144117C>A | CA338081714 | CHD5 | c.1841G>T (p.Trp614Leu) | |
| 1 | g.6144117C>G | CA338081716 | CHD5 | c.1841G>C (p.Trp614Ser) | |
| 1 | g.6144117C>T | CA338081715 | CHD5 | c.1841G>A (p.Trp614Ter) | gnomAD v4 |
| 1 | g.6144118A>C | CA338081717 | CHD5 | c.1840T>G (p.Trp614Gly) | |
| 1 | g.6144118A>G | CA338081718 | CHD5 | c.1840T>C (p.Trp614Arg) | |
| 1 | g.6144118A>T | CA338081719 | CHD5 | c.1840T>A (p.Trp614Arg) | COSMIC |
| 1 | g.6144119C>A | CA338081720 | CHD5 | c.1839G>T (p.Lys613Asn) | |
| 1 | g.6144119C= | CA1151361083 | CHD5 | c.1839G= (p.Lys613=) | |
| 1 | g.6144119C>G | CA556934 | CHD5 | c.1839G>C (p.Lys613Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6144119C>T | CA415805532 | CHD5 | c.1839G>A (p.Lys613=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6144120T>A | CA338081721 | CHD5 | c.1838A>T (p.Lys613Met) | |
| 1 | g.6144120T>C | CA338081722 | CHD5 | c.1838A>G (p.Lys613Arg) | dbSNP gnomAD v4 |
| 1 | g.6144120T>G | CA338081723 | CHD5 | c.1838A>C (p.Lys613Thr) | |
| 1 | g.6144120T= | CA1151361087 | CHD5 | c.1838A= (p.Lys613=) | |
| 1 | g.6144121T>A | CA338081724 | CHD5 | c.1837A>T (p.Lys613Ter) | |
| 1 | g.6144121T>C | CA338081725 | CHD5 | c.1837A>G (p.Lys613Glu) | |
| 1 | g.6144121T>G | CA338081726 | CHD5 | c.1837A>C (p.Lys613Gln) | |
| 1 | g.6144122G>A | CA415805533 | CHD5 | c.1836C>T (p.Ile612=) | |
| 1 | g.6144122G>C | CA556935 | CHD5 | c.1836C>G (p.Ile612Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6144122G= | CA1151361089 | CHD5 | c.1836C= (p.Ile612=) | |
| 1 | g.6144122G>T | CA415805534 | CHD5 | c.1836C>A (p.Ile612=) |