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.17401262A>C | CA338268700 | PADI6 | c.1909A>C (p.Ile637Leu) | |
| 1 | g.17401262A>G | CA338268704 | PADI6 | c.1909A>G (p.Ile637Val) | |
| 1 | g.17401262A>T | CA338268703 | PADI6 | c.1909A>T (p.Ile637Phe) | |
| 1 | g.17401263T>A | CA338268708 | PADI6 | c.1910T>A (p.Ile637Asn) | |
| 1 | g.17401263T>C | CA338268710 | PADI6 | c.1910T>C (p.Ile637Thr) | |
| 1 | g.17401263T>G | CA338268711 | PADI6 | c.1910T>G (p.Ile637Ser) | |
| 1 | g.17401264C>A | CA416407796 | PADI6 | c.1911C>A (p.Ile637=) | dbSNP |
| 1 | g.17401264C= | CA1156230918 | PADI6 | c.1911C= (p.Ile637=) | |
| 1 | g.17401264C>G | CA338268717 | PADI6 | c.1911C>G (p.Ile637Met) | |
| 1 | g.17401264C>T | CA416407797 | PADI6 | c.1911C>T (p.Ile637=) | |
| 1 | g.17401265A>C | CA338268718 | PADI6 | c.1912A>C (p.Lys638Gln) | |
| 1 | g.17401265A>G | CA338268719 | PADI6 | c.1912A>G (p.Lys638Glu) | |
| 1 | g.17401265A>T | CA338268723 | PADI6 | c.1912A>T (p.Lys638Ter) | |
| 1 | g.17401266A= | CA1156230923 | PADI6 | c.1913A= (p.Lys638=) | |
| 1 | g.17401266A>C | CA338268725 | PADI6 | c.1913A>C (p.Lys638Thr) | |
| 1 | g.17401266A>G | CA641968 | PADI6 | c.1913A>G (p.Lys638Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401266A>T | CA338268735 | PADI6 | c.1913A>T (p.Lys638Met) | |
| 1 | g.17401267G>A | CA416407798 | PADI6 | c.1914G>A (p.Lys638=) | COSMIC |
| 1 | g.17401267G>C | CA338268737 | PADI6 | c.1914G>C (p.Lys638Asn) | |
| 1 | g.17401267G= | CA1156230929 | PADI6 | c.1914G= (p.Lys638=) | |
| 1 | g.17401267G>T | CA338268738 | PADI6 | c.1914G>T (p.Lys638Asn) | dbSNP |
| 1 | g.17401268G>A | CA338268741 | PADI6 | c.1915G>A (p.Gly639Arg) | gnomAD v4 |
| 1 | g.17401268G>C | CA338268739 | PADI6 | c.1915G>C (p.Gly639Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401268G= | CA1156230949 | PADI6 | c.1915G= (p.Gly639=) | |
| 1 | g.17401268G>T | CA338268740 | PADI6 | c.1915G>T (p.Gly639Trp) | |
| 1 | g.17401268_17401271dup | CA1156230936 | PADI6 | c.1915_1918dup (p.Thr640ArgfsTer25) | dbSNP |
| 1 | g.17401269G>A | CA338268744 | PADI6 | c.1916G>A (p.Gly639Glu) | gnomAD v4 |
| 1 | g.17401269G>C | CA338268751 | PADI6 | c.1916G>C (p.Gly639Ala) | |
| 1 | g.17401269G>T | CA338268754 | PADI6 | c.1916G>T (p.Gly639Val) | |
| 1 | g.17401270G>A | CA416407801 | PADI6 | c.1917G>A (p.Gly639=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401270G>C | CA416407799 | PADI6 | c.1917G>C (p.Gly639=) | |
| 1 | g.17401270G>T | CA416407800 | PADI6 | c.1917G>T (p.Gly639=) | |
| 1 | g.17401271A>C | CA338268758 | PADI6 | c.1918A>C (p.Thr640Pro) | |
| 1 | g.17401271A>G | CA338268760 | PADI6 | c.1918A>G (p.Thr640Ala) | gnomAD v4 |
| 1 | g.17401271A>T | CA338268762 | PADI6 | c.1918A>T (p.Thr640Ser) | |
| 1 | g.17401272C>A | CA641969 | PADI6 | c.1919C>A (p.Thr640Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401272C= | CA1156230951 | PADI6 | c.1919C= (p.Thr640=) | |
| 1 | g.17401272C>G | CA338268773 | PADI6 | c.1919C>G (p.Thr640Ser) | |
| 1 | g.17401272C>T | CA18660989 | PADI6 | c.1919C>T (p.Thr640Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401273C>A | CA416407802 | PADI6 | c.1920C>A (p.Thr640=) | |
| 1 | g.17401273C= | CA1156230956 | PADI6 | c.1920C= (p.Thr640=) | |
| 1 | g.17401273C>G | CA416407804 | PADI6 | c.1920C>G (p.Thr640=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401273C>T | CA416407805 | PADI6 | c.1920C>T (p.Thr640=) | dbSNP gnomAD v4 |
| 1 | g.17401274T>A | CA338268790 | PADI6 | c.1921T>A (p.Cys641Ser) | |
| 1 | g.17401274T>C | CA338268795 | PADI6 | c.1921T>C (p.Cys641Arg) | |
| 1 | g.17401274T>G | CA338268796 | PADI6 | c.1921T>G (p.Cys641Gly) | |
| 1 | g.17401275G>A | CA338268804 | PADI6 | c.1922G>A (p.Cys641Tyr) | gnomAD v4 |
| 1 | g.17401275G>C | CA338268802 | PADI6 | c.1922G>C (p.Cys641Ser) | |
| 1 | g.17401275G>T | CA338268798 | PADI6 | c.1922G>T (p.Cys641Phe) | |
| 1 | g.17401276C>A | CA338268808 | PADI6 | c.1923C>A (p.Cys641Ter) | |
| 1 | g.17401276C>G | CA338268806 | PADI6 | c.1923C>G (p.Cys641Trp) | |
| 1 | g.17401276C>T | CA416407808 | PADI6 | c.1923C>T (p.Cys641=) | |
| 1 | g.17401277T>A | CA338268818 | PADI6 | c.1924T>A (p.Cys642Ser) | |
| 1 | g.17401277T>C | CA338268813 | PADI6 | c.1924T>C (p.Cys642Arg) | |
| 1 | g.17401277T>G | CA338268815 | PADI6 | c.1924T>G (p.Cys642Gly) | |
| 1 | g.17401278G>A | CA338268824 | PADI6 | c.1925G>A (p.Cys642Tyr) | |
| 1 | g.17401278G>C | CA338268826 | PADI6 | c.1925G>C (p.Cys642Ser) | dbSNP |
| 1 | g.17401278G= | CA1156230960 | PADI6 | c.1925G= (p.Cys642=) | |
| 1 | g.17401278G>T | CA338268828 | PADI6 | c.1925G>T (p.Cys642Phe) | |
| 1 | g.17401279C>A | CA338268831 | PADI6 | c.1926C>A (p.Cys642Ter) | |
| 1 | g.17401279C= | CA1156230964 | PADI6 | c.1926C= (p.Cys642=) | |
| 1 | g.17401279C>G | CA338268832 | PADI6 | c.1926C>G (p.Cys642Trp) | |
| 1 | g.17401279C>T | CA416407810 | PADI6 | c.1926C>T (p.Cys642=) | dbSNP gnomAD v4 |
| 1 | g.17401280C>A | CA338268835 | PADI6 | c.1927C>A (p.Leu643Met) | |
| 1 | g.17401280C>G | CA338268839 | PADI6 | c.1927C>G (p.Leu643Val) | |
| 1 | g.17401280C>T | CA416407812 | PADI6 | c.1927C>T (p.Leu643=) | |
| 1 | g.17401281T>A | CA338268842 | PADI6 | c.1928T>A (p.Leu643Gln) | gnomAD v4 |
| 1 | g.17401281T>C | CA338268845 | PADI6 | c.1928T>C (p.Leu643Pro) | |
| 1 | g.17401281T>G | CA338268847 | PADI6 | c.1928T>G (p.Leu643Arg) | |
| 1 | g.17401282G>A | CA18660992 | PADI6 | c.1929G>A (p.Leu643=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401282G>C | CA416407813 | PADI6 | c.1929G>C (p.Leu643=) | |
| 1 | g.17401282G= | CA1144021906 | PADI6 | c.1929G= (p.Leu643=) | |
| 1 | g.17401282G>T | CA416407814 | PADI6 | c.1929G>T (p.Leu643=) | |
| 1 | g.17401283G>A | CA338268860 | PADI6 | c.1930G>A (p.Glu644Lys) | gnomAD v4 |
| 1 | g.17401283G>C | CA338268866 | PADI6 | c.1930G>C (p.Glu644Gln) | |
| 1 | g.17401283G>T | CA338268863 | PADI6 | c.1930G>T (p.Glu644Ter) | |
| 1 | g.17401284A>C | CA338268869 | PADI6 | c.1931A>C (p.Glu644Ala) | |
| 1 | g.17401284A>G | CA338268872 | PADI6 | c.1931A>G (p.Glu644Gly) | |
| 1 | g.17401284A>T | CA338268876 | PADI6 | c.1931A>T (p.Glu644Val) | |
| 1 | g.17401285A>C | CA338268878 | PADI6 | c.1932A>C (p.Glu644Asp) | |
| 1 | g.17401285A>G | CA416407818 | PADI6 | c.1932A>G (p.Glu644=) | |
| 1 | g.17401285A>T | CA338268879 | PADI6 | c.1932A>T (p.Glu644Asp) | |
| 1 | g.17401286G>A | CA338268881 | PADI6 | c.1933G>A (p.Glu645Lys) | |
| 1 | g.17401286G>C | CA338268884 | PADI6 | c.1933G>C (p.Glu645Gln) | |
| 1 | g.17401286G>T | CA338268885 | PADI6 | c.1933G>T (p.Glu645Ter) | |
| 1 | g.17401287A>C | CA338268886 | PADI6 | c.1934A>C (p.Glu645Ala) | |
| 1 | g.17401287A>G | CA338268891 | PADI6 | c.1934A>G (p.Glu645Gly) | |
| 1 | g.17401287A>T | CA338268893 | PADI6 | c.1934A>T (p.Glu645Val) | |
| 1 | g.17401288A>C | CA338268896 | PADI6 | c.1935A>C (p.Glu645Asp) | |
| 1 | g.17401288A>G | CA416407820 | PADI6 | c.1935A>G (p.Glu645=) | |
| 1 | g.17401288A>T | CA338268895 | PADI6 | c.1935A>T (p.Glu645Asp) | |
| 1 | g.17401289A>C | CA338268897 | PADI6 | c.1936A>C (p.Lys646Gln) | |
| 1 | g.17401289A>G | CA338268898 | PADI6 | c.1936A>G (p.Lys646Glu) | |
| 1 | g.17401289A>T | CA338268899 | PADI6 | c.1936A>T (p.Lys646Ter) | |
| 1 | g.17401290A>C | CA338268900 | PADI6 | c.1937A>C (p.Lys646Thr) | |
| 1 | g.17401290A>G | CA338268901 | PADI6 | c.1937A>G (p.Lys646Arg) | |
| 1 | g.17401290A>T | CA338268902 | PADI6 | c.1937A>T (p.Lys646Met) | |
| 1 | g.17401291G>A | CA416407822 | PADI6 | c.1938G>A (p.Lys646=) | |
| 1 | g.17401291G>C | CA338268903 | PADI6 | c.1938G>C (p.Lys646Asn) | gnomAD v4 |
| 1 | g.17401291G= | CA1149142133 | PADI6 | c.1938G= (p.Lys646=) | |
| 1 | g.17401291G>T | CA641970 | PADI6 | c.1938G>T (p.Lys646Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401292A= | CA1156230968 | PADI6 | c.1939A= (p.Ile647=) | |
| 1 | g.17401292A>C | CA338268907 | PADI6 | c.1939A>C (p.Ile647Leu) | |
| 1 | g.17401292A>G | CA338268912 | PADI6 | c.1939A>G (p.Ile647Val) | dbSNP gnomAD v4 |
| 1 | g.17401292A>T | CA338268908 | PADI6 | c.1939A>T (p.Ile647Phe) | gnomAD v4 |
| 1 | g.17401293T>A | CA338268914 | PADI6 | c.1940T>A (p.Ile647Asn) | |
| 1 | g.17401293T>C | CA338268915 | PADI6 | c.1940T>C (p.Ile647Thr) | |
| 1 | g.17401293T>G | CA338268916 | PADI6 | c.1940T>G (p.Ile647Ser) | gnomAD v4 |
| 1 | g.17401294T>A | CA416407823 | PADI6 | c.1941T>A (p.Ile647=) | gnomAD v4 |
| 1 | g.17401294T>C | CA416407824 | PADI6 | c.1941T>C (p.Ile647=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401294T>G | CA338268917 | PADI6 | c.1941T>G (p.Ile647Met) | |
| 1 | g.17401294T= | CA1156230972 | PADI6 | c.1941T= (p.Ile647=) | |
| 1 | g.17401300_17401306del | CA2643706637 | PADI6 | c.1947_1953del (p.Cys649TrpfsTer18) | gnomAD v4 |
| 1 | g.17401295T>A | CA338268919 | PADI6 | c.1942T>A (p.Cys648Ser) | |
| 1 | g.17401295T>C | CA338268929 | PADI6 | c.1942T>C (p.Cys648Arg) | |
| 1 | g.17401295T>G | CA338268927 | PADI6 | c.1942T>G (p.Cys648Gly) | |
| 1 | g.17401296G>A | CA338268931 | PADI6 | c.1943G>A (p.Cys648Tyr) | |
| 1 | g.17401296G>C | CA338268932 | PADI6 | c.1943G>C (p.Cys648Ser) | |
| 1 | g.17401296G>T | CA338268934 | PADI6 | c.1943G>T (p.Cys648Phe) | |
| 1 | g.17401297C>A | CA338268935 | PADI6 | c.1944C>A (p.Cys648Ter) | |
| 1 | g.17401297C= | CA1143657300 | PADI6 | c.1944C= (p.Cys648=) | |
| 1 | g.17401297C>G | CA338268937 | PADI6 | c.1944C>G (p.Cys648Trp) | |
| 1 | g.17401297C>T | CA641971 | PADI6 | c.1944C>T (p.Cys648=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401298T>A | CA338268942 | PADI6 | c.1945T>A (p.Cys649Ser) | |
| 1 | g.17401298T>C | CA338268944 | PADI6 | c.1945T>C (p.Cys649Arg) | |
| 1 | g.17401298T>G | CA338268946 | PADI6 | c.1945T>G (p.Cys649Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401298T= | CA1156230974 | PADI6 | c.1945T= (p.Cys649=) | |
| 1 | g.17401299G>A | CA338268948 | PADI6 | c.1946G>A (p.Cys649Tyr) | gnomAD v4 |
| 1 | g.17401299G>C | CA338268950 | PADI6 | c.1946G>C (p.Cys649Ser) | gnomAD v4 |
| 1 | g.17401299G>T | CA338268952 | PADI6 | c.1946G>T (p.Cys649Phe) | |
| 1 | g.17401300C>A | CA338268956 | PADI6 | c.1947C>A (p.Cys649Ter) | |
| 1 | g.17401300C= | CA1146806439 | PADI6 | c.1947C= (p.Cys649=) | |
| 1 | g.17401300C>G | CA338268964 | PADI6 | c.1947C>G (p.Cys649Trp) | |
| 1 | g.17401300C>T | CA641972 | PADI6 | c.1947C>T (p.Cys649=) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17401301T>A | CA338268966 | PADI6 | c.1948T>A (p.Leu650Met) | |
| 1 | g.17401301T>C | CA416407829 | PADI6 | c.1948T>C (p.Leu650=) | |
| 1 | g.17401301T>G | CA338268967 | PADI6 | c.1948T>G (p.Leu650Val) | |
| 1 | g.17401301T= | CA1156230981 | PADI6 | c.1948T= (p.Leu650=) | |
| 1 | g.17401302T>A | CA338268973 | PADI6 | c.1949T>A (p.Leu650Ter) | |
| 1 | g.17401302T>C | CA338268974 | PADI6 | c.1949T>C (p.Leu650Ser) | |
| 1 | g.17401302T>G | CA338268970 | PADI6 | c.1949T>G (p.Leu650Trp) | |
| 1 | g.17401304_17401306dup | CA641973 | PADI6 | c.1951_1953dup (p.Leu651_Glu652insLeu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401303G>A | CA416407830 | PADI6 | c.1950G>A (p.Leu650=) | |
| 1 | g.17401303G>C | CA338268976 | PADI6 | c.1950G>C (p.Leu650Phe) | |
| 1 | g.17401303G>T | CA338268978 | PADI6 | c.1950G>T (p.Leu650Phe) | gnomAD v4 |
| 1 | g.17401304C>A | CA641974 | PADI6 | c.1951C>A (p.Leu651Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.17401304C= | CA1144421320 | PADI6 | c.1951C= (p.Leu651=) | |
| 1 | g.17401304C>G | CA338268981 | PADI6 | c.1951C>G (p.Leu651Val) | |
| 1 | g.17401304C>T | CA416407832 | PADI6 | c.1951C>T (p.Leu651=) | gnomAD v4 |
| 1 | g.17401308_17401316del | CA2695364120 | PADI6 | c.1955_1963del (p.Glu652_Leu654del) | dbSNP |
| 1 | g.17401305T>A | CA338268987 | PADI6 | c.1952T>A (p.Leu651Gln) | |
| 1 | g.17401305T>C | CA338268988 | PADI6 | c.1952T>C (p.Leu651Pro) | |
| 1 | g.17401305T>G | CA338268989 | PADI6 | c.1952T>G (p.Leu651Arg) | |
| 1 | g.17401306G>A | CA641975 | PADI6 | c.1953G>A (p.Leu651=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401306G>C | CA416407833 | PADI6 | c.1953G>C (p.Leu651=) | |
| 1 | g.17401306G= | CA1156230985 | PADI6 | c.1953G= (p.Leu651=) | |
| 1 | g.17401306G>T | CA416407834 | PADI6 | c.1953G>T (p.Leu651=) | |
| 1 | g.17401307G>A | CA338268991 | PADI6 | c.1954G>A (p.Glu652Lys) | |
| 1 | g.17401307G>C | CA338268994 | PADI6 | c.1954G>C (p.Glu652Gln) | gnomAD v4 |
| 1 | g.17401307G>T | CA338268997 | PADI6 | c.1954G>T (p.Glu652Ter) | |
| 1 | g.17401308A>C | CA338269013 | PADI6 | c.1955A>C (p.Glu652Ala) | |
| 1 | g.17401308A>G | CA338268999 | PADI6 | c.1955A>G (p.Glu652Gly) | gnomAD v4 |
| 1 | g.17401308A>T | CA338269007 | PADI6 | c.1955A>T (p.Glu652Val) | |
| 1 | g.17401309G>A | CA416407835 | PADI6 | c.1956G>A (p.Glu652=) | |
| 1 | g.17401309G>C | CA338269014 | PADI6 | c.1956G>C (p.Glu652Asp) | |
| 1 | g.17401309G>T | CA338269017 | PADI6 | c.1956G>T (p.Glu652Asp) | |
| 1 | g.17401310C>A | CA641976 | PADI6 | c.1957C>A (p.Pro653Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401310C= | CA1156230989 | PADI6 | c.1957C= (p.Pro653=) | |
| 1 | g.17401310C>G | CA338269026 | PADI6 | c.1957C>G (p.Pro653Ala) | |
| 1 | g.17401310C>T | CA338269029 | PADI6 | c.1957C>T (p.Pro653Ser) | |
| 1 | g.17401311C>A | CA338269031 | PADI6 | c.1958C>A (p.Pro653His) | |
| 1 | g.17401311C= | CA1143903357 | PADI6 | c.1958C= (p.Pro653=) | |
| 1 | g.17401311C>G | CA338269032 | PADI6 | c.1958C>G (p.Pro653Arg) | gnomAD v4 |
| 1 | g.17401311C>T | CA641977 | PADI6 | c.1958C>T (p.Pro653Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401312C>A | CA416407837 | PADI6 | c.1959C>A (p.Pro653=) | |
| 1 | g.17401312C= | CA1156230995 | PADI6 | c.1959C= (p.Pro653=) | |
| 1 | g.17401312C>G | CA416407838 | PADI6 | c.1959C>G (p.Pro653=) | |
| 1 | g.17401312C>T | CA641978 | PADI6 | c.1959C>T (p.Pro653=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401313C>A | CA338269041 | PADI6 | c.1960C>A (p.Leu654Met) | COSMIC |
| 1 | g.17401313C>G | CA338269043 | PADI6 | c.1960C>G (p.Leu654Val) | |
| 1 | g.17401313C>T | CA416407840 | PADI6 | c.1960C>T (p.Leu654=) | |
| 1 | g.17401314T>A | CA338269045 | PADI6 | c.1961T>A (p.Leu654Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401314T>C | CA18661003 | PADI6 | c.1961T>C (p.Leu654Pro) | dbSNP |
| 1 | g.17401314T>G | CA338269044 | PADI6 | c.1961T>G (p.Leu654Arg) | |
| 1 | g.17401314T= | CA1156231000 | PADI6 | c.1961T= (p.Leu654=) | |
| 1 | g.17401315G>A | CA416407842 | PADI6 | c.1962G>A (p.Leu654=) | |
| 1 | g.17401315G>C | CA641979 | PADI6 | c.1962G>C (p.Leu654=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401315G= | CA1143457294 | PADI6 | c.1962G= (p.Leu654=) | |
| 1 | g.17401315G>T | CA416407843 | PADI6 | c.1962G>T (p.Leu654=) | |
| 1 | g.17401316G>A | CA338269046 | PADI6 | c.1963G>A (p.Gly655Ser) | |
| 1 | g.17401316G>C | CA641980 | PADI6 | c.1963G>C (p.Gly655Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401316G= | CA1156231007 | PADI6 | c.1963G= (p.Gly655=) | |
| 1 | g.17401316G>T | CA338269047 | PADI6 | c.1963G>T (p.Gly655Cys) | |
| 1 | g.17401317G>A | CA641981 | PADI6 | c.1964G>A (p.Gly655Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401317G>C | CA338269050 | PADI6 | c.1964G>C (p.Gly655Ala) | |
| 1 | g.17401317G= | CA1156231012 | PADI6 | c.1964G= (p.Gly655=) | |
| 1 | g.17401317G>T | CA338269051 | PADI6 | c.1964G>T (p.Gly655Val) | |
| 1 | g.17401318C>A | CA416407844 | PADI6 | c.1965C>A (p.Gly655=) | |
| 1 | g.17401318C>G | CA416407845 | PADI6 | c.1965C>G (p.Gly655=) | |
| 1 | g.17401318C>T | CA416407846 | PADI6 | c.1965C>T (p.Gly655=) | |
| 1 | g.17401319T>A | CA338269053 | PADI6 | c.1966T>A (p.Phe656Ile) | |
| 1 | g.17401319T>C | CA338269060 | PADI6 | c.1966T>C (p.Phe656Leu) | gnomAD v4 |
| 1 | g.17401319T>G | CA338269062 | PADI6 | c.1966T>G (p.Phe656Val) | |
| 1 | g.17401320T>A | CA338269064 | PADI6 | c.1967T>A (p.Phe656Tyr) | |
| 1 | g.17401320T>C | CA338269066 | PADI6 | c.1967T>C (p.Phe656Ser) | |
| 1 | g.17401320T>G | CA338269068 | PADI6 | c.1967T>G (p.Phe656Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401320T= | CA1156231015 | PADI6 | c.1967T= (p.Phe656=) | |
| 1 | g.17401320_17401341delinsTCAAGTGCACCTTCATCAATGA | CA1156231016 | PADI6 | c.1967_1988delinsTCAAGTGCACCTTCATCAATGA (p.Phe656=) | |
| 1 | g.17401321C>A | CA338269071 | PADI6 | c.1968C>A (p.Phe656Leu) | |
| 1 | g.17401321C>G | CA338269069 | PADI6 | c.1968C>G (p.Phe656Leu) | |
| 1 | g.17401321C>T | CA416407847 | PADI6 | c.1968C>T (p.Phe656=) | |
| 1 | g.17401322_17401342del | CA891283247 | PADI6 | c.1969_1989del (p.Lys657_Asp663del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401322A= | CA1156231019 | PADI6 | c.1969A= (p.Lys657=) | |
| 1 | g.17401322A>C | CA338269074 | PADI6 | c.1969A>C (p.Lys657Gln) | |
| 1 | g.17401322A>G | CA338269076 | PADI6 | c.1969A>G (p.Lys657Glu) | |
| 1 | g.17401322A>T | CA338269078 | PADI6 | c.1969A>T (p.Lys657Ter) | |
| 1 | g.17401322_17401323dup | CA2643706649 | PADI6 | c.1969_1970dup (p.Cys658SerfsTer12) | gnomAD v4 |
| 1 | g.17401322_17401323insT | CA521048650 | PADI6 | c.1969_1970insT (p.Lys657IlefsTer7) | dbSNP gnomAD v2 |
| 1 | g.17401323A= | CA1156231024 | PADI6 | c.1970A= (p.Lys657=) | |
| 1 | g.17401323A>C | CA338269081 | PADI6 | c.1970A>C (p.Lys657Thr) | |
| 1 | g.17401323A>G | CA18661015 | PADI6 | c.1970A>G (p.Lys657Arg) | dbSNP gnomAD v4 |
| 1 | g.17401323A>T | CA338269085 | PADI6 | c.1970A>T (p.Lys657Met) | |
| 1 | g.17401324G>A | CA641982 | PADI6 | c.1971G>A (p.Lys657=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401324G>C | CA338269088 | PADI6 | c.1971G>C (p.Lys657Asn) | |
| 1 | g.17401324G= | CA1156231028 | PADI6 | c.1971G= (p.Lys657=) | |
| 1 | g.17401324G>T | CA338269095 | PADI6 | c.1971G>T (p.Lys657Asn) | |
| 1 | g.17401325T>A | CA338269097 | PADI6 | c.1972T>A (p.Cys658Ser) | |
| 1 | g.17401325T>C | CA338269098 | PADI6 | c.1972T>C (p.Cys658Arg) | |
| 1 | g.17401325T>G | CA338269101 | PADI6 | c.1972T>G (p.Cys658Gly) | |
| 1 | g.17401326G>A | CA338269105 | PADI6 | c.1973G>A (p.Cys658Tyr) | gnomAD v4 |
| 1 | g.17401326G>C | CA338269104 | PADI6 | c.1973G>C (p.Cys658Ser) | |
| 1 | g.17401326G= | CA1156231039 | PADI6 | c.1973G= (p.Cys658=) | |
| 1 | g.17401326G>T | CA641983 | PADI6 | c.1973G>T (p.Cys658Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401327C>A | CA338269107 | PADI6 | c.1974C>A (p.Cys658Ter) | |
| 1 | g.17401327C>G | CA338269108 | PADI6 | c.1974C>G (p.Cys658Trp) | |
| 1 | g.17401327C>T | CA416407852 | PADI6 | c.1974C>T (p.Cys658=) | gnomAD v4 |
| 1 | g.17401328_17401330dup | CA2643706655 | PADI6 | c.1975_1977dup (p.Thr659_Phe660insThr) | gnomAD v4 |
| 1 | g.17401328A>C | CA338269110 | PADI6 | c.1975A>C (p.Thr659Pro) | |
| 1 | g.17401328A>G | CA338269112 | PADI6 | c.1975A>G (p.Thr659Ala) | |
| 1 | g.17401328A>T | CA338269114 | PADI6 | c.1975A>T (p.Thr659Ser) | |
| 1 | g.17401329C>A | CA338269116 | PADI6 | c.1976C>A (p.Thr659Asn) | |
| 1 | g.17401329C= | CA1156231045 | PADI6 | c.1976C= (p.Thr659=) | |
| 1 | g.17401329C>G | CA338269117 | PADI6 | c.1976C>G (p.Thr659Ser) | |
| 1 | g.17401329C>T | CA641984 | PADI6 | c.1976C>T (p.Thr659Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401330C>A | CA416407853 | PADI6 | c.1977C>A (p.Thr659=) | gnomAD v4 |
| 1 | g.17401330C>G | CA416407854 | PADI6 | c.1977C>G (p.Thr659=) | |
| 1 | g.17401330C>T | CA416407855 | PADI6 | c.1977C>T (p.Thr659=) | |
| 1 | g.17401331T>A | CA641985 | PADI6 | c.1978T>A (p.Phe660Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.17401331T>C | CA338269122 | PADI6 | c.1978T>C (p.Phe660Leu) | gnomAD v4 |
| 1 | g.17401331T>G | CA338269124 | PADI6 | c.1978T>G (p.Phe660Val) | |
| 1 | g.17401331T= | CA1156231048 | PADI6 | c.1978T= (p.Phe660=) | |
| 1 | g.17401332T>A | CA338269126 | PADI6 | c.1979T>A (p.Phe660Tyr) | |
| 1 | g.17401332T>C | CA338269128 | PADI6 | c.1979T>C (p.Phe660Ser) | |
| 1 | g.17401332T>G | CA338269129 | PADI6 | c.1979T>G (p.Phe660Cys) | |
| 1 | g.17401333C>A | CA338269132 | PADI6 | c.1980C>A (p.Phe660Leu) | |
| 1 | g.17401333C>G | CA338269131 | PADI6 | c.1980C>G (p.Phe660Leu) | |
| 1 | g.17401333C>T | CA416407859 | PADI6 | c.1980C>T (p.Phe660=) | |
| 1 | g.17401334A= | CA1156231054 | PADI6 | c.1981A= (p.Ile661=) | |
| 1 | g.17401334A>C | CA338269135 | PADI6 | c.1981A>C (p.Ile661Leu) | |
| 1 | g.17401334A>G | CA641986 | PADI6 | c.1981A>G (p.Ile661Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401334A>T | CA338269136 | PADI6 | c.1981A>T (p.Ile661Phe) | gnomAD v4 |
| 1 | g.17401335T>A | CA338269138 | PADI6 | c.1982T>A (p.Ile661Asn) | |
| 1 | g.17401335T>C | CA338269140 | PADI6 | c.1982T>C (p.Ile661Thr) | |
| 1 | g.17401335T>G | CA338269141 | PADI6 | c.1982T>G (p.Ile661Ser) | |
| 1 | g.17401336C>A | CA416407860 | PADI6 | c.1983C>A (p.Ile661=) | |
| 1 | g.17401336C= | CA1156231060 | PADI6 | c.1983C= (p.Ile661=) | |
| 1 | g.17401336C>G | CA338269142 | PADI6 | c.1983C>G (p.Ile661Met) | |
| 1 | g.17401336C>T | CA18661033 | PADI6 | c.1983C>T (p.Ile661=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401337A= | CA1156231111 | PADI6 | c.1984A= (p.Asn662=) | |
| 1 | g.17401337A>C | CA338269143 | PADI6 | c.1984A>C (p.Asn662His) | |
| 1 | g.17401337A>G | CA641987 | PADI6 | c.1984A>G (p.Asn662Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401337A>T | CA338269145 | PADI6 | c.1984A>T (p.Asn662Tyr) | |
| 1 | g.17401338A= | CA1156231117 | PADI6 | c.1985A= (p.Asn662=) | |
| 1 | g.17401338A>C | CA338269146 | PADI6 | c.1985A>C (p.Asn662Thr) | |
| 1 | g.17401338A>G | CA338269148 | PADI6 | c.1985A>G (p.Asn662Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401338A>T | CA338269150 | PADI6 | c.1985A>T (p.Asn662Ile) | |
| 1 | g.17401339T>A | CA338269153 | PADI6 | c.1986T>A (p.Asn662Lys) | |
| 1 | g.17401339T>C | CA416407861 | PADI6 | c.1986T>C (p.Asn662=) | |
| 1 | g.17401339T>G | CA338269151 | PADI6 | c.1986T>G (p.Asn662Lys) | |
| 1 | g.17401340G>A | CA338269154 | PADI6 | c.1987G>A (p.Asp663Asn) | |
| 1 | g.17401340G>C | CA338269156 | PADI6 | c.1987G>C (p.Asp663His) | |
| 1 | g.17401340G>T | CA338269157 | PADI6 | c.1987G>T (p.Asp663Tyr) | |
| 1 | g.17401341A= | CA1156231118 | PADI6 | c.1988A= (p.Asp663=) | |
| 1 | g.17401341A>C | CA338269160 | PADI6 | c.1988A>C (p.Asp663Ala) | |
| 1 | g.17401341A>G | CA338269162 | PADI6 | c.1988A>G (p.Asp663Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.17401341A>T | CA338269164 | PADI6 | c.1988A>T (p.Asp663Val) | |
| 1 | g.17401342C>A | CA338269165 | PADI6 | c.1989C>A (p.Asp663Glu) | |
| 1 | g.17401342C= | CA1140273832 | PADI6 | c.1989C= (p.Asp663=) | |
| 1 | g.17401342C>G | CA338269166 | PADI6 | c.1989C>G (p.Asp663Glu) | dbSNP |
| 1 | g.17401342C>T | CA641988 | PADI6 | c.1989C>T (p.Asp663=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401343T>A | CA338269167 | PADI6 | c.1990T>A (p.Phe664Ile) | |
| 1 | g.17401343T>C | CA338269168 | PADI6 | c.1990T>C (p.Phe664Leu) | |
| 1 | g.17401343T>G | CA338269169 | PADI6 | c.1990T>G (p.Phe664Val) | |
| 1 | g.17401344_17401345del | CA2643706666 | PADI6 | c.1991_1992del (p.Phe664Ter) | gnomAD v4 |
| 1 | g.17401344T>A | CA338269171 | PADI6 | c.1991T>A (p.Phe664Tyr) | |
| 1 | g.17401344T>C | CA338269173 | PADI6 | c.1991T>C (p.Phe664Ser) | |
| 1 | g.17401344T>G | CA338269170 | PADI6 | c.1991T>G (p.Phe664Cys) | |
| 1 | g.17401344_17401348delinsTTGAC | CA1156231124 | PADI6 | c.1991_1995delinsTTGAC (p.Phe664=) | |
| 1 | g.17401345T>A | CA338269175 | PADI6 | c.1992T>A (p.Phe664Leu) | |
| 1 | g.17401345T>C | CA416408086 | PADI6 | c.1992T>C (p.Phe664=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401345T>G | CA338269176 | PADI6 | c.1992T>G (p.Phe664Leu) | |
| 1 | g.17401345T= | CA1156231129 | PADI6 | c.1992T= (p.Phe664=) | |
| 1 | g.17401347_17401350del | CA641989 | PADI6 | c.1994_1997del (p.Asp665ValfsTer3) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401346G>A | CA338269179 | PADI6 | c.1993G>A (p.Asp665Asn) | |
| 1 | g.17401346G>C | CA338269180 | PADI6 | c.1993G>C (p.Asp665His) | |
| 1 | g.17401346G>T | CA338269181 | PADI6 | c.1993G>T (p.Asp665Tyr) | |
| 1 | g.17401347A>C | CA338269183 | PADI6 | c.1994A>C (p.Asp665Ala) | |
| 1 | g.17401347A>G | CA338269187 | PADI6 | c.1994A>G (p.Asp665Gly) | |
| 1 | g.17401347A>T | CA338269185 | PADI6 | c.1994A>T (p.Asp665Val) | |
| 1 | g.17401348C>A | CA338269189 | PADI6 | c.1995C>A (p.Asp665Glu) | |
| 1 | g.17401348C>G | CA338269191 | PADI6 | c.1995C>G (p.Asp665Glu) | |
| 1 | g.17401348C>T | CA416408096 | PADI6 | c.1995C>T (p.Asp665=) | |
| 1 | g.17401348_17401349del | CA2643706670 | PADI6 | c.1995_1996del (p.Asp665GlufsTer?) | gnomAD v4 |
| 1 | g.17401349T>A | CA338269193 | PADI6 | c.1996T>A (p.Cys666Ser) | |
| 1 | g.17401349T>C | CA338269195 | PADI6 | c.1996T>C (p.Cys666Arg) | dbSNP |
| 1 | g.17401349T>G | CA338269197 | PADI6 | c.1996T>G (p.Cys666Gly) | COSMIC |
| 1 | g.17401349T= | CA1156231132 | PADI6 | c.1996T= (p.Cys666=) | |
| 1 | g.17401349dup | CA2573051413 | PADI6 | c.1996dup (p.Cys666LeufsTer?) | ClinVar dbSNP |
| 1 | g.17401350_17401351del | CA2643706672 | PADI6 | c.1997_1998del (p.Cys666LeufsTer?) | gnomAD v4 |
| 1 | g.17401350G>A | CA338269199 | PADI6 | c.1997G>A (p.Cys666Tyr) | |
| 1 | g.17401350G>C | CA338269200 | PADI6 | c.1997G>C (p.Cys666Ser) | |
| 1 | g.17401350G>T | CA338269198 | PADI6 | c.1997G>T (p.Cys666Phe) | |
| 1 | g.17401351T>A | CA338269201 | PADI6 | c.1998T>A (p.Cys666Ter) | |
| 1 | g.17401351T>C | CA641990 | PADI6 | c.1998T>C (p.Cys666=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.17401351T>G | CA338269202 | PADI6 | c.1998T>G (p.Cys666Trp) | gnomAD v4 |
| 1 | g.17401351T= | CA1142634393 | PADI6 | c.1998T= (p.Cys666=) | |
| 1 | g.17401352T>A | CA338269203 | PADI6 | c.1999T>A (p.Tyr667Asn) | |
| 1 | g.17401352T>C | CA338269205 | PADI6 | c.1999T>C (p.Tyr667His) | ClinVar |
| 1 | g.17401352T>G | CA338269204 | PADI6 | c.1999T>G (p.Tyr667Asp) | dbSNP |
| 1 | g.17401352T= | CA1156231143 | PADI6 | c.1999T= (p.Tyr667=) | |
| 1 | g.17401353A>C | CA338269208 | PADI6 | c.2000A>C (p.Tyr667Ser) | |
| 1 | g.17401353A>G | CA338269212 | PADI6 | c.2000A>G (p.Tyr667Cys) | |
| 1 | g.17401353A>T | CA338269210 | PADI6 | c.2000A>T (p.Tyr667Phe) | |
| 1 | g.17401354C>A | CA338269213 | PADI6 | c.2001C>A (p.Tyr667Ter) | |
| 1 | g.17401354C>G | CA338269214 | PADI6 | c.2001C>G (p.Tyr667Ter) | |
| 1 | g.17401354C>T | CA416408119 | PADI6 | c.2001C>T (p.Tyr667=) | gnomAD v4 |
| 1 | g.17401355C>A | CA338269216 | PADI6 | c.2002C>A (p.Leu668Met) | |
| 1 | g.17401355C= | CA1156231153 | PADI6 | c.2002C= (p.Leu668=) | |
| 1 | g.17401355C>G | CA338269217 | PADI6 | c.2002C>G (p.Leu668Val) | |
| 1 | g.17401355C>T | CA416408123 | PADI6 | c.2002C>T (p.Leu668=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.17401356T>A | CA338269218 | PADI6 | c.2003T>A (p.Leu668Gln) | |
| 1 | g.17401356T>C | CA338269219 | PADI6 | c.2003T>C (p.Leu668Pro) | dbSNP gnomAD v4 |
| 1 | g.17401356T>G | CA338269220 | PADI6 | c.2003T>G (p.Leu668Arg) | |
| 1 | g.17401356T= | CA1156231156 | PADI6 | c.2003T= (p.Leu668=) | |
| 1 | g.17401357G>A | CA416408134 | PADI6 | c.2004G>A (p.Leu668=) | gnomAD v4 |
| 1 | g.17401357G>C | CA416408131 | PADI6 | c.2004G>C (p.Leu668=) | |
| 1 | g.17401357G>T | CA416408129 | PADI6 | c.2004G>T (p.Leu668=) | |
| 1 | g.17401358A>C | CA338269221 | PADI6 | c.2005A>C (p.Thr669Pro) | |
| 1 | g.17401358A>G | CA338269222 | PADI6 | c.2005A>G (p.Thr669Ala) | |
| 1 | g.17401358A>T | CA338269224 | PADI6 | c.2005A>T (p.Thr669Ser) | |
| 1 | g.17401358_17401359delinsAC | CA1156231158 | PADI6 | c.2005_2006delinsAC (p.Thr669=) | |
| 1 | g.17401359del | CA1156231160 | PADI6 | c.2006del (p.Thr669LysfsTer?) | dbSNP |
| 1 | g.17401359C>A | CA338269225 | PADI6 | c.2006C>A (p.Thr669Lys) | |
| 1 | g.17401359C>G | CA338269226 | PADI6 | c.2006C>G (p.Thr669Arg) | |
| 1 | g.17401359C>T | CA338269227 | PADI6 | c.2006C>T (p.Thr669Ile) | gnomAD v4 |
| 1 | g.17401359_17401361delinsCAG | CA1156231161 | PADI6 | c.2006_2008delinsCAG (p.Thr669=) | |
| 1 | g.17401360A= | CA1156231166 | PADI6 | c.2007A= (p.Thr669=) | |
| 1 | g.17401360A>C | CA416408139 | PADI6 | c.2007A>C (p.Thr669=) | gnomAD v3 gnomAD v4 |
| 1 | g.17401360A>G | CA416408141 | PADI6 | c.2007A>G (p.Thr669=) | |
| 1 | g.17401360A>T | CA641991 | PADI6 | c.2007A>T (p.Thr669=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.17401362_17401363del | CA16042252 | PADI6 | c.2009_2010del (p.Glu670GlyfsTer?) | ClinVar dbSNP gnomAD v4 |
| 1 | g.17401361G>A | CA338269228 | PADI6 | c.2008G>A (p.Glu670Lys) | |
| 1 | g.17401361G>C | CA338269230 | PADI6 | c.2008G>C (p.Glu670Gln) | |
| 1 | g.17401361G>T | CA338269229 | PADI6 | c.2008G>T (p.Glu670Ter) | |
| 1 | g.17401362A>C | CA338269231 | PADI6 | c.2009A>C (p.Glu670Ala) | |
| 1 | g.17401362A>G | CA338269235 | PADI6 | c.2009A>G (p.Glu670Gly) | gnomAD v4 |
| 1 | g.17401362A>T | CA338269237 | PADI6 | c.2009A>T (p.Glu670Val) |