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 |
|---|---|---|---|---|---|
| X | g.23393387T>A | CA412586413 | PTCHD1 | c.1869T>A (p.Phe623Leu) | |
| X | g.23393387T>C | CA515620389 | PTCHD1 | c.1869T>C (p.Phe623=) | |
| X | g.23393387T>G | CA412586415 | PTCHD1 | c.1869T>G (p.Phe623Leu) | |
| X | g.23393388T>A | CA412586421 | PTCHD1 | c.1870T>A (p.Ser624Thr) | |
| X | g.23393388T>C | CA412586417 | PTCHD1 | c.1870T>C (p.Ser624Pro) | |
| X | g.23393388T>G | CA412586419 | PTCHD1 | c.1870T>G (p.Ser624Ala) | |
| X | g.23393389C>A | CA412586423 | PTCHD1 | c.1871C>A (p.Ser624Ter) | |
| X | g.23393389C= | CA2419641269 | PTCHD1 | c.1871C= (p.Ser624=) | |
| X | g.23393389C>G | CA412586425 | PTCHD1 | c.1871C>G (p.Ser624Ter) | |
| X | g.23393389C>T | CA10369198 | PTCHD1 | c.1871C>T (p.Ser624Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.23393390A>C | CA515620395 | PTCHD1 | c.1872A>C (p.Ser624=) | |
| X | g.23393390A>G | CA515620397 | PTCHD1 | c.1872A>G (p.Ser624=) | gnomAD v4 |
| X | g.23393390A>T | CA515620398 | PTCHD1 | c.1872A>T (p.Ser624=) | |
| X | g.23393391C>A | CA412586428 | PTCHD1 | c.1873C>A (p.His625Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393391C= | CA2419641270 | PTCHD1 | c.1873C= (p.His625=) | |
| X | g.23393391C>G | CA412586430 | PTCHD1 | c.1873C>G (p.His625Asp) | |
| X | g.23393391C>T | CA412586432 | PTCHD1 | c.1873C>T (p.His625Tyr) | |
| X | g.23393392A= | CA2419641271 | PTCHD1 | c.1874A= (p.His625=) | |
| X | g.23393392A>C | CA10369199 | PTCHD1 | c.1874A>C (p.His625Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23393392A>G | CA412586435 | PTCHD1 | c.1874A>G (p.His625Arg) | |
| X | g.23393392A>T | CA412586436 | PTCHD1 | c.1874A>T (p.His625Leu) | |
| X | g.23393392_23393393delinsAT | CA2419641272 | PTCHD1 | c.1874_1875delinsAT (p.His625=) | |
| X | g.23393393T>A | CA412586438 | PTCHD1 | c.1875T>A (p.His625Gln) | |
| X | g.23393393T>C | CA515620403 | PTCHD1 | c.1875T>C (p.His625=) | |
| X | g.23393393T>G | CA412586440 | PTCHD1 | c.1875T>G (p.His625Gln) | |
| X | g.23393396del | CA658799626 | PTCHD1 | c.1878del (p.Gln627LysfsTer16) | ClinVar dbSNP |
| X | g.23393394T>A | CA412586444 | PTCHD1 | c.1876T>A (p.Phe626Ile) | |
| X | g.23393394T>C | CA412586446 | PTCHD1 | c.1876T>C (p.Phe626Leu) | |
| X | g.23393394T>G | CA412586442 | PTCHD1 | c.1876T>G (p.Phe626Val) | |
| X | g.23393395T>A | CA412586448 | PTCHD1 | c.1877T>A (p.Phe626Tyr) | |
| X | g.23393395T>C | CA412586449 | PTCHD1 | c.1877T>C (p.Phe626Ser) | |
| X | g.23393395T>G | CA412586451 | PTCHD1 | c.1877T>G (p.Phe626Cys) | |
| X | g.23393396T>A | CA412586452 | PTCHD1 | c.1878T>A (p.Phe626Leu) | |
| X | g.23393396T>C | CA515620417 | PTCHD1 | c.1878T>C (p.Phe626=) | |
| X | g.23393396T>G | CA412586454 | PTCHD1 | c.1878T>G (p.Phe626Leu) | |
| X | g.23393397C>A | CA412586457 | PTCHD1 | c.1879C>A (p.Gln627Lys) | |
| X | g.23393397C= | CA2419641273 | PTCHD1 | c.1879C= (p.Gln627=) | |
| X | g.23393397C>G | CA412586458 | PTCHD1 | c.1879C>G (p.Gln627Glu) | |
| X | g.23393397C>T | CA327634977 | PTCHD1 | c.1879C>T (p.Gln627Ter) | dbSNP |
| X | g.23393398A>C | CA412586461 | PTCHD1 | c.1880A>C (p.Gln627Pro) | |
| X | g.23393398A>G | CA412586462 | PTCHD1 | c.1880A>G (p.Gln627Arg) | |
| X | g.23393398A>T | CA412586464 | PTCHD1 | c.1880A>T (p.Gln627Leu) | |
| X | g.23393399A= | CA2419641274 | PTCHD1 | c.1881A= (p.Gln627=) | |
| X | g.23393399A>C | CA412586466 | PTCHD1 | c.1881A>C (p.Gln627His) | |
| X | g.23393399A>G | CA515620420 | PTCHD1 | c.1881A>G (p.Gln627=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393399A>T | CA412586467 | PTCHD1 | c.1881A>T (p.Gln627His) | |
| X | g.23393400G>A | CA412586473 | PTCHD1 | c.1882G>A (p.Glu628Lys) | |
| X | g.23393400G>C | CA412586472 | PTCHD1 | c.1882G>C (p.Glu628Gln) | |
| X | g.23393400G>T | CA412586470 | PTCHD1 | c.1882G>T (p.Glu628Ter) | |
| X | g.23393401del | CA2507097005 | PTCHD1 | c.1883del (p.Glu628GlyfsTer15) | |
| X | g.23393401A>C | CA412586476 | PTCHD1 | c.1883A>C (p.Glu628Ala) | |
| X | g.23393401A>G | CA412586478 | PTCHD1 | c.1883A>G (p.Glu628Gly) | |
| X | g.23393401A>T | CA412586480 | PTCHD1 | c.1883A>T (p.Glu628Val) | |
| X | g.23393402G>A | CA515620423 | PTCHD1 | c.1884G>A (p.Glu628=) | dbSNP |
| X | g.23393402G>C | CA412586482 | PTCHD1 | c.1884G>C (p.Glu628Asp) | |
| X | g.23393402G= | CA2419641275 | PTCHD1 | c.1884G= (p.Glu628=) | |
| X | g.23393402G>T | CA412586484 | PTCHD1 | c.1884G>T (p.Glu628Asp) | |
| X | g.23393403G>A | CA412586486 | PTCHD1 | c.1885G>A (p.Asp629Asn) | |
| X | g.23393403G>C | CA412586488 | PTCHD1 | c.1885G>C (p.Asp629His) | |
| X | g.23393403G>T | CA412586490 | PTCHD1 | c.1885G>T (p.Asp629Tyr) | |
| X | g.23393404A>C | CA412586492 | PTCHD1 | c.1886A>C (p.Asp629Ala) | |
| X | g.23393404A>G | CA412586494 | PTCHD1 | c.1886A>G (p.Asp629Gly) | |
| X | g.23393404A>T | CA412586496 | PTCHD1 | c.1886A>T (p.Asp629Val) | |
| X | g.23393405C>A | CA412586497 | PTCHD1 | c.1887C>A (p.Asp629Glu) | |
| X | g.23393405C>G | CA412586498 | PTCHD1 | c.1887C>G (p.Asp629Glu) | |
| X | g.23393405C>T | CA515620427 | PTCHD1 | c.1887C>T (p.Asp629=) | |
| X | g.23393406A>C | CA412586502 | PTCHD1 | c.1888A>C (p.Ile630Leu) | |
| X | g.23393406A>G | CA412586503 | PTCHD1 | c.1888A>G (p.Ile630Val) | |
| X | g.23393406A>T | CA412586500 | PTCHD1 | c.1888A>T (p.Ile630Phe) | |
| X | g.23393407T>A | CA412586508 | PTCHD1 | c.1889T>A (p.Ile630Asn) | |
| X | g.23393407T>C | CA412586507 | PTCHD1 | c.1889T>C (p.Ile630Thr) | |
| X | g.23393407T>G | CA412586510 | PTCHD1 | c.1889T>G (p.Ile630Ser) | |
| X | g.23393408C>A | CA515620430 | PTCHD1 | c.1890C>A (p.Ile630=) | gnomAD v4 |
| X | g.23393408C= | CA2419641276 | PTCHD1 | c.1890C= (p.Ile630=) | |
| X | g.23393408C>G | CA412586513 | PTCHD1 | c.1890C>G (p.Ile630Met) | |
| X | g.23393408C>T | CA10369200 | PTCHD1 | c.1890C>T (p.Ile630=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393409A>C | CA412586516 | PTCHD1 | c.1891A>C (p.Ile631Leu) | |
| X | g.23393409A>G | CA412586518 | PTCHD1 | c.1891A>G (p.Ile631Val) | |
| X | g.23393409A>T | CA412586519 | PTCHD1 | c.1891A>T (p.Ile631Phe) | |
| X | g.23393409_23393412delinsATCT | CA2419640754 | PTCHD1 | c.1891_1894delinsATCT (p.Ile631=) | |
| X | g.23393410T>A | CA412586522 | PTCHD1 | c.1892T>A (p.Ile631Asn) | |
| X | g.23393410T>C | CA412586523 | PTCHD1 | c.1892T>C (p.Ile631Thr) | |
| X | g.23393410T>G | CA412586524 | PTCHD1 | c.1892T>G (p.Ile631Ser) | |
| X | g.23393413_23393415del | CA10369201 | PTCHD1 | c.1895_1897del (p.Phe632del) | dbSNP ExAC |
| X | g.23393411C>A | CA515620434 | PTCHD1 | c.1893C>A (p.Ile631=) | |
| X | g.23393411C>G | CA412586527 | PTCHD1 | c.1893C>G (p.Ile631Met) | |
| X | g.23393411C>T | CA515620435 | PTCHD1 | c.1893C>T (p.Ile631=) | |
| X | g.23393412T>A | CA412586529 | PTCHD1 | c.1894T>A (p.Phe632Ile) | |
| X | g.23393412T>C | CA412586531 | PTCHD1 | c.1894T>C (p.Phe632Leu) | |
| X | g.23393412T>G | CA412586533 | PTCHD1 | c.1894T>G (p.Phe632Val) | |
| X | g.23393413T>A | CA412586535 | PTCHD1 | c.1895T>A (p.Phe632Tyr) | |
| X | g.23393413T>C | CA412586538 | PTCHD1 | c.1895T>C (p.Phe632Ser) | |
| X | g.23393413T>G | CA412586537 | PTCHD1 | c.1895T>G (p.Phe632Cys) | |
| X | g.23393414C>A | CA412586541 | PTCHD1 | c.1896C>A (p.Phe632Leu) | |
| X | g.23393414C>G | CA412586543 | PTCHD1 | c.1896C>G (p.Phe632Leu) | |
| X | g.23393414C>T | CA515620441 | PTCHD1 | c.1896C>T (p.Phe632=) | |
| X | g.23393415T>A | CA412586546 | PTCHD1 | c.1897T>A (p.Ser633Thr) | |
| X | g.23393415T>C | CA412586548 | PTCHD1 | c.1897T>C (p.Ser633Pro) | |
| X | g.23393415T>G | CA412586549 | PTCHD1 | c.1897T>G (p.Ser633Ala) | |
| X | g.23393416C>A | CA412586552 | PTCHD1 | c.1898C>A (p.Ser633Tyr) | |
| X | g.23393416C>G | CA412586553 | PTCHD1 | c.1898C>G (p.Ser633Cys) | |
| X | g.23393416C>T | CA412586555 | PTCHD1 | c.1898C>T (p.Ser633Phe) | |
| X | g.23393417T>A | CA515620445 | PTCHD1 | c.1899T>A (p.Ser633=) | |
| X | g.23393417T>C | CA515620446 | PTCHD1 | c.1899T>C (p.Ser633=) | dbSNP |
| X | g.23393417T>G | CA515620447 | PTCHD1 | c.1899T>G (p.Ser633=) | |
| X | g.23393417T= | CA2419640755 | PTCHD1 | c.1899T= (p.Ser633=) | |
| X | g.23393418A>C | CA412586560 | PTCHD1 | c.1900A>C (p.Lys634Gln) | |
| X | g.23393418A>G | CA412586562 | PTCHD1 | c.1900A>G (p.Lys634Glu) | gnomAD v4 |
| X | g.23393418A>T | CA412586563 | PTCHD1 | c.1900A>T (p.Lys634Ter) | |
| X | g.23393423dup | CA515620449 | PTCHD1 | c.1905dup (p.Tyr636IlefsTer3) | COSMIC COSMIC |
| X | g.23393419A= | CA2419640756 | PTCHD1 | c.1901A= (p.Lys634=) | |
| X | g.23393419A>C | CA327634978 | PTCHD1 | c.1901A>C (p.Lys634Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23393419A>G | CA412586566 | PTCHD1 | c.1901A>G (p.Lys634Arg) | |
| X | g.23393419A>T | CA412586564 | PTCHD1 | c.1901A>T (p.Lys634Ile) | |
| X | g.23393420A>C | CA412586571 | PTCHD1 | c.1902A>C (p.Lys634Asn) | |
| X | g.23393420A>G | CA515620451 | PTCHD1 | c.1902A>G (p.Lys634=) | |
| X | g.23393420A>T | CA412586569 | PTCHD1 | c.1902A>T (p.Lys634Asn) | |
| X | g.23393421A>C | CA412586574 | PTCHD1 | c.1903A>C (p.Lys635Gln) | |
| X | g.23393421A>G | CA412586575 | PTCHD1 | c.1903A>G (p.Lys635Glu) | |
| X | g.23393421A>T | CA412586577 | PTCHD1 | c.1903A>T (p.Lys635Ter) | |
| X | g.23393422A>C | CA412586578 | PTCHD1 | c.1904A>C (p.Lys635Thr) | |
| X | g.23393422A>G | CA412586580 | PTCHD1 | c.1904A>G (p.Lys635Arg) | |
| X | g.23393422A>T | CA412586583 | PTCHD1 | c.1904A>T (p.Lys635Ile) | |
| X | g.23393423A>C | CA412586584 | PTCHD1 | c.1905A>C (p.Lys635Asn) | |
| X | g.23393423A>G | CA515620455 | PTCHD1 | c.1905A>G (p.Lys635=) | COSMIC COSMIC |
| X | g.23393423A>T | CA412586586 | PTCHD1 | c.1905A>T (p.Lys635Asn) | gnomAD v4 |
| X | g.23393424T>A | CA412586591 | PTCHD1 | c.1906T>A (p.Tyr636Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393424T>C | CA412586593 | PTCHD1 | c.1906T>C (p.Tyr636His) | |
| X | g.23393424T>G | CA412586594 | PTCHD1 | c.1906T>G (p.Tyr636Asp) | |
| X | g.23393424T= | CA2419640757 | PTCHD1 | c.1906T= (p.Tyr636=) | |
| X | g.23393425A= | CA2419640758 | PTCHD1 | c.1907A= (p.Tyr636=) | |
| X | g.23393425A>C | CA412586600 | PTCHD1 | c.1907A>C (p.Tyr636Ser) | |
| X | g.23393425A>G | CA412586598 | PTCHD1 | c.1907A>G (p.Tyr636Cys) | |
| X | g.23393425A>T | CA412586596 | PTCHD1 | c.1907A>T (p.Tyr636Phe) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393426C>A | CA412586602 | PTCHD1 | c.1908C>A (p.Tyr636Ter) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393426C= | CA2419640759 | PTCHD1 | c.1908C= (p.Tyr636=) | |
| X | g.23393426C>G | CA412586604 | PTCHD1 | c.1908C>G (p.Tyr636Ter) | |
| X | g.23393426C>T | CA515620459 | PTCHD1 | c.1908C>T (p.Tyr636=) | dbSNP |
| X | g.23393427A>C | CA412586606 | PTCHD1 | c.1909A>C (p.Asn637His) | |
| X | g.23393427A>G | CA412586608 | PTCHD1 | c.1909A>G (p.Asn637Asp) | |
| X | g.23393427A>T | CA412586610 | PTCHD1 | c.1909A>T (p.Asn637Tyr) | |
| X | g.23393427_23393430delinsAATG | CA2419640760 | PTCHD1 | c.1909_1912delinsAATG (p.Asn637=) | |
| X | g.23393428A= | CA2419640762 | PTCHD1 | c.1910A= (p.Asn637=) | |
| X | g.23393428A>C | CA412586612 | PTCHD1 | c.1910A>C (p.Asn637Thr) | |
| X | g.23393428A>G | CA412586614 | PTCHD1 | c.1910A>G (p.Asn637Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.23393428A>T | CA412586616 | PTCHD1 | c.1910A>T (p.Asn637Ile) | |
| X | g.23393432_23393434del | CA2419640761 | PTCHD1 | c.1914_1916del (p.Asp638del) | dbSNP gnomAD v4 |
| X | g.23393429T>A | CA412586617 | PTCHD1 | c.1911T>A (p.Asn637Lys) | |
| X | g.23393429T>C | CA515620462 | PTCHD1 | c.1911T>C (p.Asn637=) | |
| X | g.23393429T>G | CA412586619 | PTCHD1 | c.1911T>G (p.Asn637Lys) | |
| X | g.23393430G>A | CA412586622 | PTCHD1 | c.1912G>A (p.Asp638Asn) | |
| X | g.23393430G>C | CA412586623 | PTCHD1 | c.1912G>C (p.Asp638His) | gnomAD v4 |
| X | g.23393430G= | CA2419640763 | PTCHD1 | c.1912G= (p.Asp638=) | |
| X | g.23393430G>T | CA412586624 | PTCHD1 | c.1912G>T (p.Asp638Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393431A>C | CA412586627 | PTCHD1 | c.1913A>C (p.Asp638Ala) | |
| X | g.23393431A>G | CA412586629 | PTCHD1 | c.1913A>G (p.Asp638Gly) | |
| X | g.23393431A>T | CA412586625 | PTCHD1 | c.1913A>T (p.Asp638Val) | |
| X | g.23393432T>A | CA412586631 | PTCHD1 | c.1914T>A (p.Asp638Glu) | |
| X | g.23393432T>C | CA515620466 | PTCHD1 | c.1914T>C (p.Asp638=) | |
| X | g.23393432T>G | CA412586633 | PTCHD1 | c.1914T>G (p.Asp638Glu) | |
| X | g.23393433G>A | CA412586636 | PTCHD1 | c.1915G>A (p.Glu639Lys) | COSMIC COSMIC |
| X | g.23393433G>C | CA412586637 | PTCHD1 | c.1915G>C (p.Glu639Gln) | |
| X | g.23393433G>T | CA412586639 | PTCHD1 | c.1915G>T (p.Glu639Ter) | |
| X | g.23393434A>C | CA412586641 | PTCHD1 | c.1916A>C (p.Glu639Ala) | |
| X | g.23393434A>G | CA412586643 | PTCHD1 | c.1916A>G (p.Glu639Gly) | |
| X | g.23393434A>T | CA412586645 | PTCHD1 | c.1916A>T (p.Glu639Val) | |
| X | g.23393435G>A | CA515620470 | PTCHD1 | c.1917G>A (p.Glu639=) | |
| X | g.23393435G>C | CA412586647 | PTCHD1 | c.1917G>C (p.Glu639Asp) | |
| X | g.23393435G>T | CA412586648 | PTCHD1 | c.1917G>T (p.Glu639Asp) | |
| X | g.23393436G>A | CA10369202 | PTCHD1 | c.1918G>A (p.Val640Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393436G>C | CA412586652 | PTCHD1 | c.1918G>C (p.Val640Leu) | |
| X | g.23393436G= | CA2419640764 | PTCHD1 | c.1918G= (p.Val640=) | |
| X | g.23393436G>T | CA412586654 | PTCHD1 | c.1918G>T (p.Val640Phe) | |
| X | g.23393437T>A | CA412586660 | PTCHD1 | c.1919T>A (p.Val640Asp) | |
| X | g.23393437T>C | CA412586658 | PTCHD1 | c.1919T>C (p.Val640Ala) | |
| X | g.23393437T>G | CA412586656 | PTCHD1 | c.1919T>G (p.Val640Gly) | |
| X | g.23393438C>A | CA515620476 | PTCHD1 | c.1920C>A (p.Val640=) | gnomAD v4 |
| X | g.23393438C>G | CA515620475 | PTCHD1 | c.1920C>G (p.Val640=) | |
| X | g.23393438C>T | CA515620474 | PTCHD1 | c.1920C>T (p.Val640=) | gnomAD v4 COSMIC COSMIC |
| X | g.23393439G>A | CA412586663 | PTCHD1 | c.1921G>A (p.Asp641Asn) | dbSNP |
| X | g.23393439G>C | CA412586665 | PTCHD1 | c.1921G>C (p.Asp641His) | |
| X | g.23393439G= | CA2419640765 | PTCHD1 | c.1921G= (p.Asp641=) | |
| X | g.23393439G>T | CA412586666 | PTCHD1 | c.1921G>T (p.Asp641Tyr) | dbSNP |
| X | g.23393440A= | CA2419640766 | PTCHD1 | c.1922A= (p.Asp641=) | |
| X | g.23393440A>C | CA412586668 | PTCHD1 | c.1922A>C (p.Asp641Ala) | |
| X | g.23393440A>G | CA412586670 | PTCHD1 | c.1922A>G (p.Asp641Gly) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.23393440A>T | CA412586672 | PTCHD1 | c.1922A>T (p.Asp641Val) | |
| X | g.23393441T>A | CA412586676 | PTCHD1 | c.1923T>A (p.Asp641Glu) | |
| X | g.23393441T>C | CA10369203 | PTCHD1 | c.1923T>C (p.Asp641=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.23393441T>G | CA412586679 | PTCHD1 | c.1923T>G (p.Asp641Glu) | |
| X | g.23393441T= | CA2419640767 | PTCHD1 | c.1923T= (p.Asp641=) | |
| X | g.23393442G>A | CA412586680 | PTCHD1 | c.1924G>A (p.Val642Ile) | |
| X | g.23393442G>C | CA412586687 | PTCHD1 | c.1924G>C (p.Val642Leu) | |
| X | g.23393442G>T | CA412586689 | PTCHD1 | c.1924G>T (p.Val642Leu) | |
| X | g.23393443T>A | CA412586695 | PTCHD1 | c.1925T>A (p.Val642Glu) | |
| X | g.23393443T>C | CA412586693 | PTCHD1 | c.1925T>C (p.Val642Ala) | |
| X | g.23393443T>G | CA412586691 | PTCHD1 | c.1925T>G (p.Val642Gly) | |
| X | g.23393444A= | CA2419640768 | PTCHD1 | c.1926A= (p.Val642=) | |
| X | g.23393444A>C | CA515620481 | PTCHD1 | c.1926A>C (p.Val642=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393444A>G | CA515620483 | PTCHD1 | c.1926A>G (p.Val642=) | |
| X | g.23393444A>T | CA515620482 | PTCHD1 | c.1926A>T (p.Val642=) | |
| X | g.23393445G>A | CA412586698 | PTCHD1 | c.1927G>A (p.Val643Met) | |
| X | g.23393445G>C | CA412586702 | PTCHD1 | c.1927G>C (p.Val643Leu) | |
| X | g.23393445G= | CA2419640769 | PTCHD1 | c.1927G= (p.Val643=) | |
| X | g.23393445G>T | CA412586703 | PTCHD1 | c.1927G>T (p.Val643Leu) | dbSNP |
| X | g.23393446T>A | CA412586705 | PTCHD1 | c.1928T>A (p.Val643Glu) | dbSNP gnomAD v4 |
| X | g.23393446T>C | CA412586706 | PTCHD1 | c.1928T>C (p.Val643Ala) | ClinVar |
| X | g.23393446T>G | CA412586707 | PTCHD1 | c.1928T>G (p.Val643Gly) | |
| X | g.23393446T= | CA2419640770 | PTCHD1 | c.1928T= (p.Val643=) | |
| X | g.23393447G>A | CA515620486 | PTCHD1 | c.1929G>A (p.Val643=) | ClinVar dbSNP gnomAD v4 |
| X | g.23393447G>C | CA515620487 | PTCHD1 | c.1929G>C (p.Val643=) | gnomAD v4 |
| X | g.23393447G= | CA2419640771 | PTCHD1 | c.1929G= (p.Val643=) | |
| X | g.23393447G>T | CA515620488 | PTCHD1 | c.1929G>T (p.Val643=) | |
| X | g.23393448G>A | CA412586717 | PTCHD1 | c.1930G>A (p.Ala644Thr) | |
| X | g.23393448G>C | CA412586718 | PTCHD1 | c.1930G>C (p.Ala644Pro) | |
| X | g.23393448G>T | CA412586721 | PTCHD1 | c.1930G>T (p.Ala644Ser) | |
| X | g.23393449C>A | CA412586723 | PTCHD1 | c.1931C>A (p.Ala644Asp) | |
| X | g.23393449C>G | CA412586724 | PTCHD1 | c.1931C>G (p.Ala644Gly) | |
| X | g.23393449C>T | CA412586726 | PTCHD1 | c.1931C>T (p.Ala644Val) | |
| X | g.23393450C>A | CA515620491 | PTCHD1 | c.1932C>A (p.Ala644=) | |
| X | g.23393450C>G | CA515620493 | PTCHD1 | c.1932C>G (p.Ala644=) | |
| X | g.23393450C>T | CA515620492 | PTCHD1 | c.1932C>T (p.Ala644=) | |
| X | g.23393451T>A | CA412586741 | PTCHD1 | c.1933T>A (p.Ser645Thr) | |
| X | g.23393451T>C | CA412586740 | PTCHD1 | c.1933T>C (p.Ser645Pro) | COSMIC |
| X | g.23393451T>G | CA412586739 | PTCHD1 | c.1933T>G (p.Ser645Ala) | |
| X | g.23393452C>A | CA412586743 | PTCHD1 | c.1934C>A (p.Ser645Tyr) | |
| X | g.23393452C>G | CA412586744 | PTCHD1 | c.1934C>G (p.Ser645Cys) | |
| X | g.23393452C>T | CA412586745 | PTCHD1 | c.1934C>T (p.Ser645Phe) | |
| X | g.23393453C>A | CA515620494 | PTCHD1 | c.1935C>A (p.Ser645=) | |
| X | g.23393453C>G | CA515620495 | PTCHD1 | c.1935C>G (p.Ser645=) | |
| X | g.23393453C>T | CA515620496 | PTCHD1 | c.1935C>T (p.Ser645=) | |
| X | g.23393454A>C | CA515620497 | PTCHD1 | c.1936A>C (p.Arg646=) | |
| X | g.23393454A>G | CA412586746 | PTCHD1 | c.1936A>G (p.Arg646Gly) | |
| X | g.23393454A>T | CA412586747 | PTCHD1 | c.1936A>T (p.Arg646Ter) | |
| X | g.23393455G>A | CA412586749 | PTCHD1 | c.1937G>A (p.Arg646Lys) | COSMIC COSMIC |
| X | g.23393455G>C | CA412586750 | PTCHD1 | c.1937G>C (p.Arg646Thr) | |
| X | g.23393455G>T | CA412586752 | PTCHD1 | c.1937G>T (p.Arg646Ile) | |
| X | g.23393456A>C | CA412586754 | PTCHD1 | c.1938A>C (p.Arg646Ser) | |
| X | g.23393456A>G | CA515620501 | PTCHD1 | c.1938A>G (p.Arg646=) | |
| X | g.23393456A>T | CA412586755 | PTCHD1 | c.1938A>T (p.Arg646Ser) | |
| X | g.23393457A>C | CA412586758 | PTCHD1 | c.1939A>C (p.Met647Leu) | |
| X | g.23393457A>G | CA412586760 | PTCHD1 | c.1939A>G (p.Met647Val) | |
| X | g.23393457A>T | CA412586762 | PTCHD1 | c.1939A>T (p.Met647Leu) | |
| X | g.23393458T>A | CA412586764 | PTCHD1 | c.1940T>A (p.Met647Lys) | |
| X | g.23393458T>C | CA412586766 | PTCHD1 | c.1940T>C (p.Met647Thr) | |
| X | g.23393458T>G | CA412586763 | PTCHD1 | c.1940T>G (p.Met647Arg) | |
| X | g.23393459G>A | CA412586769 | PTCHD1 | c.1941G>A (p.Met647Ile) | gnomAD v4 |
| X | g.23393459G>C | CA412586768 | PTCHD1 | c.1941G>C (p.Met647Ile) | |
| X | g.23393459G>T | CA412586770 | PTCHD1 | c.1941G>T (p.Met647Ile) | |
| X | g.23393460T>A | CA412586771 | PTCHD1 | c.1942T>A (p.Phe648Ile) | |
| X | g.23393460T>C | CA412586772 | PTCHD1 | c.1942T>C (p.Phe648Leu) | |
| X | g.23393460T>G | CA412586774 | PTCHD1 | c.1942T>G (p.Phe648Val) | |
| X | g.23393461T>A | CA412586777 | PTCHD1 | c.1943T>A (p.Phe648Tyr) | |
| X | g.23393461T>C | CA412586782 | PTCHD1 | c.1943T>C (p.Phe648Ser) | |
| X | g.23393461T>G | CA412586783 | PTCHD1 | c.1943T>G (p.Phe648Cys) | |
| X | g.23393462T>A | CA412586786 | PTCHD1 | c.1944T>A (p.Phe648Leu) | |
| X | g.23393462T>C | CA515620504 | PTCHD1 | c.1944T>C (p.Phe648=) | |
| X | g.23393462T>G | CA412586787 | PTCHD1 | c.1944T>G (p.Phe648Leu) | |
| X | g.23393463T>A | CA412586788 | PTCHD1 | c.1945T>A (p.Leu649Met) | |
| X | g.23393463T>C | CA515620505 | PTCHD1 | c.1945T>C (p.Leu649=) | dbSNP |
| X | g.23393463T>G | CA412586789 | PTCHD1 | c.1945T>G (p.Leu649Val) | |
| X | g.23393463T= | CA2419640772 | PTCHD1 | c.1945T= (p.Leu649=) | |
| X | g.23393464T>A | CA412586791 | PTCHD1 | c.1946T>A (p.Leu649Ter) | |
| X | g.23393464T>C | CA412586793 | PTCHD1 | c.1946T>C (p.Leu649Ser) | |
| X | g.23393464T>G | CA412586795 | PTCHD1 | c.1946T>G (p.Leu649Trp) | ClinVar |
| X | g.23393465G>A | CA515620506 | PTCHD1 | c.1947G>A (p.Leu649=) | |
| X | g.23393465G>C | CA412586799 | PTCHD1 | c.1947G>C (p.Leu649Phe) | dbSNP gnomAD v4 |
| X | g.23393465G= | CA2419640773 | PTCHD1 | c.1947G= (p.Leu649=) | |
| X | g.23393465G>T | CA412586797 | PTCHD1 | c.1947G>T (p.Leu649Phe) | |
| X | g.23393466G>A | CA412586801 | PTCHD1 | c.1948G>A (p.Val650Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393466G>C | CA412586803 | PTCHD1 | c.1948G>C (p.Val650Leu) | |
| X | g.23393466G= | CA2419640774 | PTCHD1 | c.1948G= (p.Val650=) | |
| X | g.23393466G>T | CA412586805 | PTCHD1 | c.1948G>T (p.Val650Leu) | |
| X | g.23393467T>A | CA412586807 | PTCHD1 | c.1949T>A (p.Val650Glu) | |
| X | g.23393467T>C | CA412586809 | PTCHD1 | c.1949T>C (p.Val650Ala) | |
| X | g.23393467T>G | CA412586811 | PTCHD1 | c.1949T>G (p.Val650Gly) | |
| X | g.23393468G>A | CA515620510 | PTCHD1 | c.1950G>A (p.Val650=) | |
| X | g.23393468G>C | CA515620511 | PTCHD1 | c.1950G>C (p.Val650=) | |
| X | g.23393468G>T | CA515620512 | PTCHD1 | c.1950G>T (p.Val650=) | |
| X | g.23393469G>A | CA412586814 | PTCHD1 | c.1951G>A (p.Ala651Thr) | ClinVar |
| X | g.23393469G>C | CA412586815 | PTCHD1 | c.1951G>C (p.Ala651Pro) | |
| X | g.23393469G>T | CA412586817 | PTCHD1 | c.1951G>T (p.Ala651Ser) | |
| X | g.23393470C>A | CA412586819 | PTCHD1 | c.1952C>A (p.Ala651Asp) | |
| X | g.23393470C>G | CA412586820 | PTCHD1 | c.1952C>G (p.Ala651Gly) | |
| X | g.23393470C>T | CA412586824 | PTCHD1 | c.1952C>T (p.Ala651Val) | |
| X | g.23393471C>A | CA515620514 | PTCHD1 | c.1953C>A (p.Ala651=) | |
| X | g.23393471C>G | CA515620515 | PTCHD1 | c.1953C>G (p.Ala651=) | |
| X | g.23393471C>T | CA515620517 | PTCHD1 | c.1953C>T (p.Ala651=) | COSMIC COSMIC |
| X | g.23393472A>C | CA412586835 | PTCHD1 | c.1954A>C (p.Lys652Gln) | |
| X | g.23393472A>G | CA412586834 | PTCHD1 | c.1954A>G (p.Lys652Glu) | |
| X | g.23393472A>T | CA412586826 | PTCHD1 | c.1954A>T (p.Lys652Ter) | |
| X | g.23393473A>C | CA412586838 | PTCHD1 | c.1955A>C (p.Lys652Thr) | COSMIC COSMIC |
| X | g.23393473A>G | CA412586839 | PTCHD1 | c.1955A>G (p.Lys652Arg) | COSMIC COSMIC |
| X | g.23393473A>T | CA412586841 | PTCHD1 | c.1955A>T (p.Lys652Met) | |
| X | g.23393474G>A | CA515620523 | PTCHD1 | c.1956G>A (p.Lys652=) | dbSNP gnomAD v4 |
| X | g.23393474G>C | CA412586844 | PTCHD1 | c.1956G>C (p.Lys652Asn) | |
| X | g.23393474G= | CA2419640775 | PTCHD1 | c.1956G= (p.Lys652=) | |
| X | g.23393474G>T | CA412586845 | PTCHD1 | c.1956G>T (p.Lys652Asn) | |
| X | g.23393475A= | CA2419640776 | PTCHD1 | c.1957A= (p.Thr653=) | |
| X | g.23393475A>C | CA412586851 | PTCHD1 | c.1957A>C (p.Thr653Pro) | |
| X | g.23393475A>G | CA10369204 | PTCHD1 | c.1957A>G (p.Thr653Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393475A>T | CA412586848 | PTCHD1 | c.1957A>T (p.Thr653Ser) | |
| X | g.23393476C>A | CA412586853 | PTCHD1 | c.1958C>A (p.Thr653Asn) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.23393476C= | CA2419640777 | PTCHD1 | c.1958C= (p.Thr653=) | |
| X | g.23393476C>G | CA327634979 | PTCHD1 | c.1958C>G (p.Thr653Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393476C>T | CA412586856 | PTCHD1 | c.1958C>T (p.Thr653Ile) | |
| X | g.23393477C>A | CA515620528 | PTCHD1 | c.1959C>A (p.Thr653=) | |
| X | g.23393477C>G | CA515620529 | PTCHD1 | c.1959C>G (p.Thr653=) | gnomAD v4 |
| X | g.23393477C>T | CA515620530 | PTCHD1 | c.1959C>T (p.Thr653=) | |
| X | g.23393478A= | CA2419640778 | PTCHD1 | c.1960A= (p.Met654=) | |
| X | g.23393478A>C | CA412586859 | PTCHD1 | c.1960A>C (p.Met654Leu) | |
| X | g.23393478A>G | CA10369205 | PTCHD1 | c.1960A>G (p.Met654Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.23393478A>T | CA412586861 | PTCHD1 | c.1960A>T (p.Met654Leu) | |
| X | g.23393479T>A | CA412586862 | PTCHD1 | c.1961T>A (p.Met654Lys) | |
| X | g.23393479T>C | CA412586864 | PTCHD1 | c.1961T>C (p.Met654Thr) | dbSNP gnomAD v4 |
| X | g.23393479T>G | CA412586863 | PTCHD1 | c.1961T>G (p.Met654Arg) | |
| X | g.23393479T= | CA2419640779 | PTCHD1 | c.1961T= (p.Met654=) | |
| X | g.23393480G>A | CA412586868 | PTCHD1 | c.1962G>A (p.Met654Ile) | |
| X | g.23393480G>C | CA412586869 | PTCHD1 | c.1962G>C (p.Met654Ile) | |
| X | g.23393480G>T | CA412586871 | PTCHD1 | c.1962G>T (p.Met654Ile) | |
| X | g.23393481G>A | CA412586873 | PTCHD1 | c.1963G>A (p.Glu655Lys) | |
| X | g.23393481G>C | CA412586874 | PTCHD1 | c.1963G>C (p.Glu655Gln) | gnomAD v4 |
| X | g.23393481G>T | CA412586876 | PTCHD1 | c.1963G>T (p.Glu655Ter) | |
| X | g.23393481_23393485delinsGAAAC | CA2419640780 | PTCHD1 | c.1963_1967delinsGAAAC (p.Glu655=) | |
| X | g.23393482A>C | CA412586877 | PTCHD1 | c.1964A>C (p.Glu655Ala) | |
| X | g.23393482A>G | CA412586879 | PTCHD1 | c.1964A>G (p.Glu655Gly) | |
| X | g.23393482A>T | CA412586880 | PTCHD1 | c.1964A>T (p.Glu655Val) | |
| X | g.23393487_23393490del | CA16043258 | PTCHD1 | c.1969_1972del (p.Asn657GlufsTer11) | ClinVar dbSNP gnomAD v4 |
| X | g.23393483A>C | CA412586883 | PTCHD1 | c.1965A>C (p.Glu655Asp) | |
| X | g.23393483A>G | CA515620541 | PTCHD1 | c.1965A>G (p.Glu655=) | |
| X | g.23393483A>T | CA412586885 | PTCHD1 | c.1965A>T (p.Glu655Asp) | |
| X | g.23393484A= | CA2419640781 | PTCHD1 | c.1966A= (p.Thr656=) | |
| X | g.23393484A>C | CA412586891 | PTCHD1 | c.1966A>C (p.Thr656Pro) | |
| X | g.23393484A>G | CA412586889 | PTCHD1 | c.1966A>G (p.Thr656Ala) | dbSNP |
| X | g.23393484A>T | CA412586887 | PTCHD1 | c.1966A>T (p.Thr656Ser) | |
| X | g.23393485C>A | CA412586893 | PTCHD1 | c.1967C>A (p.Thr656Lys) | |
| X | g.23393485C= | CA2419640782 | PTCHD1 | c.1967C= (p.Thr656=) | |
| X | g.23393485C>G | CA412586895 | PTCHD1 | c.1967C>G (p.Thr656Arg) | dbSNP gnomAD v4 |
| X | g.23393485C>T | CA412586897 | PTCHD1 | c.1967C>T (p.Thr656Ile) | |
| X | g.23393486A>C | CA515620545 | PTCHD1 | c.1968A>C (p.Thr656=) | |
| X | g.23393486A>G | CA515620548 | PTCHD1 | c.1968A>G (p.Thr656=) | |
| X | g.23393486A>T | CA515620546 | PTCHD1 | c.1968A>T (p.Thr656=) | |
| X | g.23393487A>C | CA412586898 | PTCHD1 | c.1969A>C (p.Asn657His) | |
| X | g.23393487A>G | CA412586899 | PTCHD1 | c.1969A>G (p.Asn657Asp) | |
| X | g.23393487A>T | CA412586900 | PTCHD1 | c.1969A>T (p.Asn657Tyr) |