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)
| |
X | g.23393488A>C | CA412586901 | PTCHD1 | c.1970A>C (p.Asn657Thr)
| |
X | g.23393488A>G | CA412586902 | PTCHD1 | c.1970A>G (p.Asn657Ser)
| |
X | g.23393488A>T | CA412586904 | PTCHD1 | c.1970A>T (p.Asn657Ile)
| |
X | g.23393489C>A | CA412586908 | PTCHD1 | c.1971C>A (p.Asn657Lys)
| |
X | g.23393489C>G | CA412586909 | PTCHD1 | c.1971C>G (p.Asn657Lys)
| |
X | g.23393489C>T | CA515620263 | PTCHD1 | c.1971C>T (p.Asn657=)
| |
X | g.23393490A>C | CA515620265 | PTCHD1 | c.1972A>C (p.Arg658=)
| |
X | g.23393490A>G | CA412586912 | PTCHD1 | c.1972A>G (p.Arg658Gly)
| |
X | g.23393490A>T | CA412586913 | PTCHD1 | c.1972A>T (p.Arg658Ter)
| |
X | g.23393491G>A | CA412586916 | PTCHD1 | c.1973G>A (p.Arg658Lys)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.23393491G>C | CA412586918 | PTCHD1 | c.1973G>C (p.Arg658Thr)
| |
X | g.23393491G= | CA2419640784 | PTCHD1 | c.1973G= (p.Arg658=)
| |
X | g.23393491G>T | CA412586922 | PTCHD1 | c.1973G>T (p.Arg658Ile)
| |
X | g.23393491_23393494delinsGAGA | CA2419640783 | PTCHD1 | c.1973_1976delinsGAGA (p.Arg658=)
| |
X | g.23393492A>C | CA412586924 | PTCHD1 | c.1974A>C (p.Arg658Ser)
| |
X | g.23393492A>G | CA515620267 | PTCHD1 | c.1974A>G (p.Arg658=)
| |
X | g.23393492A>T | CA412586925 | PTCHD1 | c.1974A>T (p.Arg658Ser)
| |
X | g.23393496_23393498dup | CA640855619 | PTCHD1 | c.1978_1980dup (p.Glu660_Leu661insGlu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.23393496_23393498del | CA1131647582 | PTCHD1 | c.1978_1980del (p.Glu660del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.23393493G>A | CA412586927 | PTCHD1 | c.1975G>A (p.Glu659Lys)
| COSMIC COSMIC |
X | g.23393493G>C | CA412586928 | PTCHD1 | c.1975G>C (p.Glu659Gln)
| |
X | g.23393493G>T | CA412586930 | PTCHD1 | c.1975G>T (p.Glu659Ter)
| |
X | g.23393494A>C | CA412586932 | PTCHD1 | c.1976A>C (p.Glu659Ala)
| |
X | g.23393494A>G | CA412586934 | PTCHD1 | c.1976A>G (p.Glu659Gly)
| |
X | g.23393494A>T | CA412586935 | PTCHD1 | c.1976A>T (p.Glu659Val)
| |