Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116748480del | CA2522289523 | BUD13 | c.*4del (n.*4del) c.639del | |
11 | g.116748480A= | CA2002705914 | BUD13 | c.*2T= (n.*2T=) c.637T= | |
11 | g.116748480A>C | CA2793763199 | BUD13 | c.*2T>G (n.*2T>G) c.637T>G | |
11 | g.116748480A>T | CA601817647 | BUD13 | c.*2T>A (n.*2T>A) c.637T>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748482T>A | CA382695047 | BUD13 | c.1860A>T (p.Ter620Tyr) c.1458A>T (p.Ter486Tyr) c.635A>T c.1761A>T (p.Ter587Tyr) | |
11 | g.116748482T>C | CA476866898 | BUD13 | c.1860A>G (p.Ter620=) c.1458A>G (p.Ter486=) c.635A>G c.1761A>G (p.Ter587=) | |
11 | g.116748482T>G | CA382695048 | BUD13 | c.1860A>C (p.Ter620Tyr) c.1458A>C (p.Ter486Tyr) c.635A>C c.1761A>C (p.Ter587Tyr) | COSMIC |
11 | g.116748483T>A | CA382695049 | BUD13 | c.1859A>T (p.Ter620Leu) c.1457A>T (p.Ter486Leu) c.634A>T c.1760A>T (p.Ter587Leu) | |
11 | g.116748483T>C | CA476866899 | BUD13 | c.1859A>G (p.Ter620=) c.1457A>G (p.Ter486=) c.634A>G c.1760A>G (p.Ter587=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748483T>G | CA382695050 | BUD13 | c.1859A>C (p.Ter620Ser) c.1457A>C (p.Ter486Ser) c.634A>C c.1760A>C (p.Ter587Ser) | |
11 | g.116748483T= | CA2002705920 | BUD13 | c.1859A= (p.Ter620=) c.1457A= (p.Ter486=) c.634A= c.1760A= (p.Ter587=) | |
11 | g.116748484A>C | CA382695053 | BUD13 | c.1858T>G (p.Ter620Glu) c.1456T>G (p.Ter486Glu) c.633T>G c.1759T>G (p.Ter587Glu) | |
11 | g.116748484A>G | CA382695051 | BUD13 | c.1858T>C (p.Ter620Gln) c.1456T>C (p.Ter486Gln) c.633T>C c.1759T>C (p.Ter587Gln) | |
11 | g.116748484A>T | CA382695052 | BUD13 | c.1858T>A (p.Ter620Lys) c.1456T>A (p.Ter486Lys) c.633T>A c.1759T>A (p.Ter587Lys) | |
11 | g.116748484dup | CA2574985826 | BUD13 | c.1858dup (p.Ter620LeuextTer24) c.1456dup (p.Ter486LeuextTer24) c.633dup c.1759dup (p.Ter587LeuextTer24) | |
11 | g.116748485C>A | CA382695054 | BUD13 | c.1857G>T (p.Met619Ile) c.1455G>T (p.Met485Ile) c.632G>T c.1758G>T (p.Met586Ile) | |
11 | g.116748485C= | CA2002705929 | BUD13 | c.1857G= (p.Met619=) c.1455G= (p.Met485=) c.632G= c.1758G= (p.Met586=) | |
11 | g.116748485C>G | CA382695055 | BUD13 | c.1857G>C (p.Met619Ile) c.1455G>C (p.Met485Ile) c.632G>C c.1758G>C (p.Met586Ile) | |
11 | g.116748485C>T | CA6287869 | BUD13 | c.1857G>A (p.Met619Ile) c.1455G>A (p.Met485Ile) c.632G>A c.1758G>A (p.Met586Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748486A>C | CA382695056 | BUD13 | c.1856T>G (p.Met619Arg) c.1454T>G (p.Met485Arg) c.631T>G c.1757T>G (p.Met586Arg) | |
11 | g.116748486A>G | CA382695057 | BUD13 | c.1856T>C (p.Met619Thr) c.1454T>C (p.Met485Thr) c.631T>C c.1757T>C (p.Met586Thr) | |
11 | g.116748486A>T | CA382695058 | BUD13 | c.1856T>A (p.Met619Lys) c.1454T>A (p.Met485Lys) c.631T>A c.1757T>A (p.Met586Lys) | |
11 | g.116748487T>A | CA382695059 | BUD13 | c.1855A>T (p.Met619Leu) c.1453A>T (p.Met485Leu) c.630A>T c.1756A>T (p.Met586Leu) | |
11 | g.116748487T>C | CA382695060 | BUD13 | c.1855A>G (p.Met619Val) c.1453A>G (p.Met485Val) c.630A>G c.1756A>G (p.Met586Val) | |
11 | g.116748487T>G | CA382695061 | BUD13 | c.1855A>C (p.Met619Leu) c.1453A>C (p.Met485Leu) c.630A>C c.1756A>C (p.Met586Leu) | |
11 | g.116748488A>C | CA382695062 | BUD13 | c.1854T>G (p.Asp618Glu) c.1452T>G (p.Asp484Glu) c.629T>G c.1755T>G (p.Asp585Glu) | |
11 | g.116748488A>G | CA476866900 | BUD13 | c.1854T>C (p.Asp618=) c.1452T>C (p.Asp484=) c.629T>C c.1755T>C (p.Asp585=) | |
11 | g.116748488A>T | CA382695063 | BUD13 | c.1854T>A (p.Asp618Glu) c.1452T>A (p.Asp484Glu) c.629T>A c.1755T>A (p.Asp585Glu) | |
11 | g.116748489T>A | CA382695065 | BUD13 | c.1853A>T (p.Asp618Val) c.1451A>T (p.Asp484Val) c.628A>T c.1754A>T (p.Asp585Val) | |
11 | g.116748489T>C | CA382695066 | BUD13 | c.1853A>G (p.Asp618Gly) c.1451A>G (p.Asp484Gly) c.628A>G c.1754A>G (p.Asp585Gly) | dbSNP |
11 | g.116748489T>G | CA382695064 | BUD13 | c.1853A>C (p.Asp618Ala) c.1451A>C (p.Asp484Ala) c.628A>C c.1754A>C (p.Asp585Ala) | |
11 | g.116748489T= | CA2002705937 | BUD13 | c.1853A= (p.Asp618=) c.1451A= (p.Asp484=) c.628A= c.1754A= (p.Asp585=) | |
11 | g.116748490C>A | CA382695067 | BUD13 | c.1852G>T (p.Asp618Tyr) c.1450G>T (p.Asp484Tyr) c.627G>T c.1753G>T (p.Asp585Tyr) | |
11 | g.116748490C>G | CA382695068 | BUD13 | c.1852G>C (p.Asp618His) c.1450G>C (p.Asp484His) c.627G>C c.1753G>C (p.Asp585His) | |
11 | g.116748490C>T | CA382695069 | BUD13 | c.1852G>A (p.Asp618Asn) c.1450G>A (p.Asp484Asn) c.627G>A c.1753G>A (p.Asp585Asn) | |
11 | g.116748491C>A | CA382695070 | BUD13 | c.1851G>T (p.Glu617Asp) c.1449G>T (p.Glu483Asp) c.626G>T c.1752G>T (p.Glu584Asp) | |
11 | g.116748491C= | CA2002705949 | BUD13 | c.1851G= (p.Glu617=) c.1449G= (p.Glu483=) c.626G= c.1752G= (p.Glu584=) | |
11 | g.116748491C>G | CA382695071 | BUD13 | c.1851G>C (p.Glu617Asp) c.1449G>C (p.Glu483Asp) c.626G>C c.1752G>C (p.Glu584Asp) | |
11 | g.116748491C>T | CA229293974 | BUD13 | c.1851G>A (p.Glu617=) c.1449G>A (p.Glu483=) c.626G>A c.1752G>A (p.Glu584=) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748492T>A | CA382695074 | BUD13 | c.1850A>T (p.Glu617Val) c.1448A>T (p.Glu483Val) c.625A>T c.1751A>T (p.Glu584Val) | |
11 | g.116748492T>C | CA382695073 | BUD13 | c.1850A>G (p.Glu617Gly) c.1448A>G (p.Glu483Gly) c.625A>G c.1751A>G (p.Glu584Gly) | |
11 | g.116748492T>G | CA382695072 | BUD13 | c.1850A>C (p.Glu617Ala) c.1448A>C (p.Glu483Ala) c.625A>C c.1751A>C (p.Glu584Ala) | |
11 | g.116748493C>A | CA382695075 | BUD13 | c.1849G>T (p.Glu617Ter) c.1447G>T (p.Glu483Ter) c.624G>T c.1750G>T (p.Glu584Ter) | |
11 | g.116748493C= | CA2002705964 | BUD13 | c.1849G= (p.Glu617=) c.1447G= (p.Glu483=) c.624G= c.1750G= (p.Glu584=) | |
11 | g.116748493C>G | CA382695076 | BUD13 | c.1849G>C (p.Glu617Gln) c.1447G>C (p.Glu483Gln) c.624G>C c.1750G>C (p.Glu584Gln) | |
11 | g.116748493C>T | CA6287870 | BUD13 | c.1849G>A (p.Glu617Lys) c.1447G>A (p.Glu483Lys) c.624G>A c.1750G>A (p.Glu584Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748494A= | CA2002705969 | BUD13 | c.1848T= (p.Val616=) c.1446T= (p.Val482=) c.623T= c.1749T= (p.Val583=) | |
11 | g.116748494A>C | CA476866901 | BUD13 | c.1848T>G (p.Val616=) c.1446T>G (p.Val482=) c.623T>G c.1749T>G (p.Val583=) | dbSNP gnomAD v4 |
11 | g.116748494A>G | CA476866902 | BUD13 | c.1848T>C (p.Val616=) c.1446T>C (p.Val482=) c.623T>C c.1749T>C (p.Val583=) | |
11 | g.116748494A>T | CA476866903 | BUD13 | c.1848T>A (p.Val616=) c.1446T>A (p.Val482=) c.623T>A c.1749T>A (p.Val583=) | |
11 | g.116748495A>C | CA382695077 | BUD13 | c.1847T>G (p.Val616Gly) c.1445T>G (p.Val482Gly) c.622T>G c.1748T>G (p.Val583Gly) | |
11 | g.116748495A>G | CA382695078 | BUD13 | c.1847T>C (p.Val616Ala) c.1445T>C (p.Val482Ala) c.622T>C c.1748T>C (p.Val583Ala) | |
11 | g.116748495A>T | CA382695079 | BUD13 | c.1847T>A (p.Val616Asp) c.1445T>A (p.Val482Asp) c.622T>A c.1748T>A (p.Val583Asp) | |
11 | g.116748496C>A | CA382695080 | BUD13 | c.1846G>T (p.Val616Phe) c.1444G>T (p.Val482Phe) c.621G>T c.1747G>T (p.Val583Phe) | |
11 | g.116748496C>G | CA382695082 | BUD13 | c.1846G>C (p.Val616Leu) c.1444G>C (p.Val482Leu) c.621G>C c.1747G>C (p.Val583Leu) | |
11 | g.116748496C>T | CA382695081 | BUD13 | c.1846G>A (p.Val616Ile) c.1444G>A (p.Val482Ile) c.621G>A c.1747G>A (p.Val583Ile) | |
11 | g.116748497A= | CA2002705972 | BUD13 | c.1845T= (p.Ser615=) c.1443T= (p.Ser481=) c.620T= c.1746T= (p.Ser582=) | |
11 | g.116748497A>C | CA382695083 | BUD13 | c.1845T>G (p.Ser615Arg) c.1443T>G (p.Ser481Arg) c.620T>G c.1746T>G (p.Ser582Arg) | |
11 | g.116748497A>G | CA6287871 | BUD13 | c.1845T>C (p.Ser615=) c.1443T>C (p.Ser481=) c.620T>C c.1746T>C (p.Ser582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116748497A>T | CA382695084 | BUD13 | c.1845T>A (p.Ser615Arg) c.1443T>A (p.Ser481Arg) c.620T>A c.1746T>A (p.Ser582Arg) | |
11 | g.116748498C>A | CA382695085 | BUD13 | c.1844G>T (p.Ser615Ile) c.1442G>T (p.Ser481Ile) c.619G>T c.1745G>T (p.Ser582Ile) | |
11 | g.116748498C>G | CA382695086 | BUD13 | c.1844G>C (p.Ser615Thr) c.1442G>C (p.Ser481Thr) c.619G>C c.1745G>C (p.Ser582Thr) | |
11 | g.116748498C>T | CA382695087 | BUD13 | c.1844G>A (p.Ser615Asn) c.1442G>A (p.Ser481Asn) c.619G>A c.1745G>A (p.Ser582Asn) | COSMIC |
11 | g.116748499T>A | CA382695088 | BUD13 | c.1843A>T (p.Ser615Cys) c.1441A>T (p.Ser481Cys) c.618A>T c.1744A>T (p.Ser582Cys) | |
11 | g.116748499T>C | CA382695089 | BUD13 | c.1843A>G (p.Ser615Gly) c.1441A>G (p.Ser481Gly) c.618A>G c.1744A>G (p.Ser582Gly) | gnomAD v4 |
11 | g.116748499T>G | CA382695090 | BUD13 | c.1843A>C (p.Ser615Arg) c.1441A>C (p.Ser481Arg) c.618A>C c.1744A>C (p.Ser582Arg) | |
11 | g.116748500C>A | CA382695091 | BUD13 | c.1842G>T (p.Trp614Cys) c.1440G>T (p.Trp480Cys) c.617G>T c.1743G>T (p.Trp581Cys) | |
11 | g.116748500C= | CA2002705973 | BUD13 | c.1842G= (p.Trp614=) c.1440G= (p.Trp480=) c.617G= c.1743G= (p.Trp581=) | |
11 | g.116748500C>G | CA382695092 | BUD13 | c.1842G>C (p.Trp614Cys) c.1440G>C (p.Trp480Cys) c.617G>C c.1743G>C (p.Trp581Cys) | dbSNP |
11 | g.116748500C>T | CA382695093 | BUD13 | c.1842G>A (p.Trp614Ter) c.1440G>A (p.Trp480Ter) c.617G>A c.1743G>A (p.Trp581Ter) | |
11 | g.116748501C>A | CA382695096 | BUD13 | c.1841G>T (p.Trp614Leu) c.1439G>T (p.Trp480Leu) c.616G>T c.1742G>T (p.Trp581Leu) | |
11 | g.116748501C>G | CA382695095 | BUD13 | c.1841G>C (p.Trp614Ser) c.1439G>C (p.Trp480Ser) c.616G>C c.1742G>C (p.Trp581Ser) | |
11 | g.116748501C>T | CA382695094 | BUD13 | c.1841G>A (p.Trp614Ter) c.1439G>A (p.Trp480Ter) c.616G>A c.1742G>A (p.Trp581Ter) | |
11 | g.116748502A>C | CA382695098 | BUD13 | c.1840T>G (p.Trp614Gly) c.1438T>G (p.Trp480Gly) c.615T>G c.1741T>G (p.Trp581Gly) | |
11 | g.116748502A>G | CA382695097 | BUD13 | c.1840T>C (p.Trp614Arg) c.1438T>C (p.Trp480Arg) c.615T>C c.1741T>C (p.Trp581Arg) | |
11 | g.116748502A>T | CA382695099 | BUD13 | c.1840T>A (p.Trp614Arg) c.1438T>A (p.Trp480Arg) c.615T>A c.1741T>A (p.Trp581Arg) | |
11 | g.116748503T>A | CA382695100 | BUD13 | c.1839A>T (p.Lys613Asn) c.1437A>T (p.Lys479Asn) c.614A>T c.1740A>T (p.Lys580Asn) | |
11 | g.116748503T>C | CA476866904 | BUD13 | c.1839A>G (p.Lys613=) c.1437A>G (p.Lys479=) c.614A>G c.1740A>G (p.Lys580=) | gnomAD v4 |
11 | g.116748503T>G | CA382695101 | BUD13 | c.1839A>C (p.Lys613Asn) c.1437A>C (p.Lys479Asn) c.614A>C c.1740A>C (p.Lys580Asn) | |
11 | g.116748504T>A | CA382695102 | BUD13 | c.1838A>T (p.Lys613Ile) c.1436A>T (p.Lys479Ile) c.613A>T c.1739A>T (p.Lys580Ile) | |
11 | g.116748504T>C | CA382695103 | BUD13 | c.1838A>G (p.Lys613Arg) c.1436A>G (p.Lys479Arg) c.613A>G c.1739A>G (p.Lys580Arg) | gnomAD v4 |
11 | g.116748504T>G | CA382695104 | BUD13 | c.1838A>C (p.Lys613Thr) c.1436A>C (p.Lys479Thr) c.613A>C c.1739A>C (p.Lys580Thr) | |
11 | g.116748505T>A | CA229294012 | BUD13 | c.1837A>T (p.Lys613Ter) c.1435A>T (p.Lys479Ter) c.612A>T c.1738A>T (p.Lys580Ter) | dbSNP gnomAD v4 |
11 | g.116748505T>C | CA382695105 | BUD13 | c.1837A>G (p.Lys613Glu) c.1435A>G (p.Lys479Glu) c.612A>G c.1738A>G (p.Lys580Glu) | |
11 | g.116748505T>G | CA382695106 | BUD13 | c.1837A>C (p.Lys613Gln) c.1435A>C (p.Lys479Gln) c.612A>C c.1738A>C (p.Lys580Gln) | |
11 | g.116748505T= | CA2002705975 | BUD13 | c.1837A= (p.Lys613=) c.1435A= (p.Lys479=) c.612A= c.1738A= (p.Lys580=) | |
11 | g.116748506G>A | CA476866905 | BUD13 | c.1836C>T (p.Tyr612=) c.1434C>T (p.Tyr478=) c.611C>T c.1737C>T (p.Tyr579=) | |
11 | g.116748506G>C | CA382695107 | BUD13 | c.1836C>G (p.Tyr612Ter) c.1434C>G (p.Tyr478Ter) c.611C>G c.1737C>G (p.Tyr579Ter) | |
11 | g.116748506G= | CA2002705977 | BUD13 | c.1836C= (p.Tyr612=) c.1434C= (p.Tyr478=) c.611C= c.1737C= (p.Tyr579=) | |
11 | g.116748506G>T | CA382695108 | BUD13 | c.1836C>A (p.Tyr612Ter) c.1434C>A (p.Tyr478Ter) c.611C>A c.1737C>A (p.Tyr579Ter) | |
11 | g.116748507T>A | CA382695109 | BUD13 | c.1835A>T (p.Tyr612Phe) c.1433A>T (p.Tyr478Phe) c.610A>T c.1736A>T (p.Tyr579Phe) | |
11 | g.116748507T>C | CA382695110 | BUD13 | c.1835A>G (p.Tyr612Cys) c.1433A>G (p.Tyr478Cys) c.610A>G c.1736A>G (p.Tyr579Cys) | gnomAD v4 |
11 | g.116748507T>G | CA382695111 | BUD13 | c.1835A>C (p.Tyr612Ser) c.1433A>C (p.Tyr478Ser) c.610A>C c.1736A>C (p.Tyr579Ser) | |
11 | g.116748507dup | CA2002705982 | BUD13 | c.1835dup (p.Tyr612Ter) c.1433dup (p.Tyr478Ter) c.610dup c.1736dup (p.Tyr579Ter) | dbSNP |
11 | g.116748508A>C | CA382695112 | BUD13 | c.1834T>G (p.Tyr612Asp) c.1432T>G (p.Tyr478Asp) c.609T>G c.1735T>G (p.Tyr579Asp) | |
11 | g.116748508A>G | CA382695114 | BUD13 | c.1834T>C (p.Tyr612His) c.1432T>C (p.Tyr478His) c.609T>C c.1735T>C (p.Tyr579His) | |
11 | g.116748508A>T | CA382695113 | BUD13 | c.1834T>A (p.Tyr612Asn) c.1432T>A (p.Tyr478Asn) c.609T>A c.1735T>A (p.Tyr579Asn) | |
11 | g.116748509G>A | CA6287872 | BUD13 | c.1833C>T (p.Ala611=) c.1431C>T (p.Ala477=) c.608C>T c.1734C>T (p.Ala578=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748509G>C | CA476866906 | BUD13 | c.1833C>G (p.Ala611=) c.1431C>G (p.Ala477=) c.608C>G c.1734C>G (p.Ala578=) | |
11 | g.116748509G= | CA2002705985 | BUD13 | c.1833C= (p.Ala611=) c.1431C= (p.Ala477=) c.608C= c.1734C= (p.Ala578=) | |
11 | g.116748509G>T | CA476866907 | BUD13 | c.1833C>A (p.Ala611=) c.1431C>A (p.Ala477=) c.608C>A c.1734C>A (p.Ala578=) | |
11 | g.116748510G>A | CA382695115 | BUD13 | c.1832C>T (p.Ala611Val) c.1430C>T (p.Ala477Val) c.607C>T c.1733C>T (p.Ala578Val) | |
11 | g.116748510G>C | CA382695116 | BUD13 | c.1832C>G (p.Ala611Gly) c.1430C>G (p.Ala477Gly) c.607C>G c.1733C>G (p.Ala578Gly) | |
11 | g.116748510G>T | CA382695117 | BUD13 | c.1832C>A (p.Ala611Asp) c.1430C>A (p.Ala477Asp) c.607C>A c.1733C>A (p.Ala578Asp) | |
11 | g.116748511C>A | CA382695118 | BUD13 | c.1831G>T (p.Ala611Ser) c.1429G>T (p.Ala477Ser) c.606G>T c.1732G>T (p.Ala578Ser) | |
11 | g.116748511C= | CA2002705988 | BUD13 | c.1831G= (p.Ala611=) c.1429G= (p.Ala477=) c.606G= c.1732G= (p.Ala578=) | |
11 | g.116748511C>G | CA382695119 | BUD13 | c.1831G>C (p.Ala611Pro) c.1429G>C (p.Ala477Pro) c.606G>C c.1732G>C (p.Ala578Pro) | |
11 | g.116748511C>T | CA6287873 | BUD13 | c.1831G>A (p.Ala611Thr) c.1429G>A (p.Ala477Thr) c.606G>A c.1732G>A (p.Ala578Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116748512A>C | CA476866908 | BUD13 | c.1830T>G (p.Leu610=) c.1428T>G (p.Leu476=) c.605T>G c.1731T>G (p.Leu577=) | |
11 | g.116748512A>G | CA476866909 | BUD13 | c.1830T>C (p.Leu610=) c.1428T>C (p.Leu476=) c.605T>C c.1731T>C (p.Leu577=) | |
11 | g.116748512A>T | CA476866910 | BUD13 | c.1830T>A (p.Leu610=) c.1428T>A (p.Leu476=) c.605T>A c.1731T>A (p.Leu577=) | |
11 | g.116748513A>C | CA382695120 | BUD13 | c.1829T>G (p.Leu610Arg) c.1427T>G (p.Leu476Arg) c.604T>G c.1730T>G (p.Leu577Arg) | |
11 | g.116748513A>G | CA382695121 | BUD13 | c.1829T>C (p.Leu610Pro) c.1427T>C (p.Leu476Pro) c.604T>C c.1730T>C (p.Leu577Pro) | |
11 | g.116748513A>T | CA382695122 | BUD13 | c.1829T>A (p.Leu610His) c.1427T>A (p.Leu476His) c.604T>A c.1730T>A (p.Leu577His) | |
11 | g.116748514G>A | CA382695124 | BUD13 | c.1828C>T (p.Leu610Phe) c.1426C>T (p.Leu476Phe) c.603C>T c.1729C>T (p.Leu577Phe) | dbSNP |
11 | g.116748514G>C | CA382695125 | BUD13 | c.1828C>G (p.Leu610Val) c.1426C>G (p.Leu476Val) c.603C>G c.1729C>G (p.Leu577Val) | dbSNP |
11 | g.116748514G>T | CA382695123 | BUD13 | c.1828C>A (p.Leu610Ile) c.1426C>A (p.Leu476Ile) c.603C>A c.1729C>A (p.Leu577Ile) | |
11 | g.116748515T>A | CA382695126 | BUD13 | c.1827A>T (p.Glu609Asp) c.1425A>T (p.Glu475Asp) c.602A>T c.1728A>T (p.Glu576Asp) | |
11 | g.116748515T>C | CA476866911 | BUD13 | c.1827A>G (p.Glu609=) c.1425A>G (p.Glu475=) c.602A>G c.1728A>G (p.Glu576=) | |
11 | g.116748515T>G | CA382695127 | BUD13 | c.1827A>C (p.Glu609Asp) c.1425A>C (p.Glu475Asp) c.602A>C c.1728A>C (p.Glu576Asp) | |
11 | g.116748516T>A | CA382695128 | BUD13 | c.1826A>T (p.Glu609Val) c.1424A>T (p.Glu475Val) c.601A>T c.1727A>T (p.Glu576Val) | |
11 | g.116748516T>C | CA382695129 | BUD13 | c.1826A>G (p.Glu609Gly) c.1424A>G (p.Glu475Gly) c.601A>G c.1727A>G (p.Glu576Gly) | |
11 | g.116748516T>G | CA382695130 | BUD13 | c.1826A>C (p.Glu609Ala) c.1424A>C (p.Glu475Ala) c.601A>C c.1727A>C (p.Glu576Ala) | |
11 | g.116748517C>A | CA382695131 | BUD13 | c.1825G>T (p.Glu609Ter) c.1423G>T (p.Glu475Ter) c.600G>T c.1726G>T (p.Glu576Ter) | |
11 | g.116748517C>G | CA382695132 | BUD13 | c.1825G>C (p.Glu609Gln) c.1423G>C (p.Glu475Gln) c.600G>C c.1726G>C (p.Glu576Gln) | |
11 | g.116748517C>T | CA382695133 | BUD13 | c.1825G>A (p.Glu609Lys) c.1423G>A (p.Glu475Lys) c.600G>A c.1726G>A (p.Glu576Lys) | |
11 | g.116748518C>A | CA382695134 | BUD13 | c.1824G>T (p.Glu608Asp) c.1422G>T (p.Glu474Asp) c.599G>T c.1725G>T (p.Glu575Asp) | |
11 | g.116748518C= | CA2002705994 | BUD13 | c.1824G= (p.Glu608=) c.1422G= (p.Glu474=) c.599G= c.1725G= (p.Glu575=) | |
11 | g.116748518C>G | CA382695135 | BUD13 | c.1824G>C (p.Glu608Asp) c.1422G>C (p.Glu474Asp) c.599G>C c.1725G>C (p.Glu575Asp) | |
11 | g.116748518C>T | CA476866912 | BUD13 | c.1824G>A (p.Glu608=) c.1422G>A (p.Glu474=) c.599G>A c.1725G>A (p.Glu575=) | dbSNP gnomAD v4 |
11 | g.116748519T>A | CA382695136 | BUD13 | c.1823A>T (p.Glu608Val) c.1421A>T (p.Glu474Val) c.598A>T c.1724A>T (p.Glu575Val) | |
11 | g.116748519T>C | CA382695137 | BUD13 | c.1823A>G (p.Glu608Gly) c.1421A>G (p.Glu474Gly) c.598A>G c.1724A>G (p.Glu575Gly) | |
11 | g.116748519T>G | CA382695138 | BUD13 | c.1823A>C (p.Glu608Ala) c.1421A>C (p.Glu474Ala) c.598A>C c.1724A>C (p.Glu575Ala) | |
11 | g.116748520C>A | CA382695141 | BUD13 | c.1822G>T (p.Glu608Ter) c.1420G>T (p.Glu474Ter) c.597G>T c.1723G>T (p.Glu575Ter) | COSMIC |
11 | g.116748520C>G | CA382695140 | BUD13 | c.1822G>C (p.Glu608Gln) c.1420G>C (p.Glu474Gln) c.597G>C c.1723G>C (p.Glu575Gln) | |
11 | g.116748520C>T | CA382695139 | BUD13 | c.1822G>A (p.Glu608Lys) c.1420G>A (p.Glu474Lys) c.597G>A c.1723G>A (p.Glu575Lys) | |
11 | g.116748521C>A | CA476866915 | BUD13 | c.1821G>T (p.Val607=) c.1419G>T (p.Val473=) c.596G>T c.1722G>T (p.Val574=) | |
11 | g.116748521C>G | CA476866914 | BUD13 | c.1821G>C (p.Val607=) c.1419G>C (p.Val473=) c.596G>C c.1722G>C (p.Val574=) | |
11 | g.116748521C>T | CA476866913 | BUD13 | c.1821G>A (p.Val607=) c.1419G>A (p.Val473=) c.596G>A c.1722G>A (p.Val574=) | |
11 | g.116748522A>C | CA382695142 | BUD13 | c.1820T>G (p.Val607Gly) c.1418T>G (p.Val473Gly) c.595T>G c.1721T>G (p.Val574Gly) | |
11 | g.116748522A>G | CA382695143 | BUD13 | c.1820T>C (p.Val607Ala) c.1418T>C (p.Val473Ala) c.595T>C c.1721T>C (p.Val574Ala) | |
11 | g.116748522A>T | CA382695144 | BUD13 | c.1820T>A (p.Val607Glu) c.1418T>A (p.Val473Glu) c.595T>A c.1721T>A (p.Val574Glu) | |
11 | g.116748523C>A | CA382695145 | BUD13 | c.1819G>T (p.Val607Leu) c.1417G>T (p.Val473Leu) c.594G>T c.1720G>T (p.Val574Leu) | |
11 | g.116748523C>G | CA382695146 | BUD13 | c.1819G>C (p.Val607Leu) c.1417G>C (p.Val473Leu) c.594G>C c.1720G>C (p.Val574Leu) | |
11 | g.116748523C>T | CA382695147 | BUD13 | c.1819G>A (p.Val607Met) c.1417G>A (p.Val473Met) c.594G>A c.1720G>A (p.Val574Met) | |
11 | g.116748524T>A | CA476866916 | BUD13 | c.1818A>T (p.Ala606=) c.1416A>T (p.Ala472=) c.593A>T c.1719A>T (p.Ala573=) | |
11 | g.116748524T>C | CA476866917 | BUD13 | c.1818A>G (p.Ala606=) c.1416A>G (p.Ala472=) c.593A>G c.1719A>G (p.Ala573=) | |
11 | g.116748524T>G | CA476866918 | BUD13 | c.1818A>C (p.Ala606=) c.1416A>C (p.Ala472=) c.593A>C c.1719A>C (p.Ala573=) | |
11 | g.116748525G>A | CA382695148 | BUD13 | c.1817C>T (p.Ala606Val) c.1415C>T (p.Ala472Val) c.592C>T c.1718C>T (p.Ala573Val) | gnomAD v4 |
11 | g.116748525G>C | CA382695149 | BUD13 | c.1817C>G (p.Ala606Gly) c.1415C>G (p.Ala472Gly) c.592C>G c.1718C>G (p.Ala573Gly) | |
11 | g.116748525G>T | CA382695150 | BUD13 | c.1817C>A (p.Ala606Glu) c.1415C>A (p.Ala472Glu) c.592C>A c.1718C>A (p.Ala573Glu) | |
11 | g.116748526C>A | CA382695151 | BUD13 | c.1816G>T (p.Ala606Ser) c.1414G>T (p.Ala472Ser) c.591G>T c.1717G>T (p.Ala573Ser) | |
11 | g.116748526C>G | CA382695152 | BUD13 | c.1816G>C (p.Ala606Pro) c.1414G>C (p.Ala472Pro) c.591G>C c.1717G>C (p.Ala573Pro) | |
11 | g.116748526C>T | CA382695153 | BUD13 | c.1816G>A (p.Ala606Thr) c.1414G>A (p.Ala472Thr) c.591G>A c.1717G>A (p.Ala573Thr) | |
11 | g.116748527C>A | CA382695154 | BUD13 | c.1815G>T (p.Lys605Asn) c.1413G>T (p.Lys471Asn) c.590G>T c.1716G>T (p.Lys572Asn) | |
11 | g.116748527C= | CA2002705999 | BUD13 | c.1815G= (p.Lys605=) c.1413G= (p.Lys471=) c.590G= c.1716G= (p.Lys572=) | |
11 | g.116748527C>G | CA382695155 | BUD13 | c.1815G>C (p.Lys605Asn) c.1413G>C (p.Lys471Asn) c.590G>C c.1716G>C (p.Lys572Asn) | |
11 | g.116748527C>T | CA476866919 | BUD13 | c.1815G>A (p.Lys605=) c.1413G>A (p.Lys471=) c.590G>A c.1716G>A (p.Lys572=) | dbSNP gnomAD v4 |
11 | g.116748528T>A | CA382695157 | BUD13 | c.1814A>T (p.Lys605Met) c.1412A>T (p.Lys471Met) c.589A>T c.1715A>T (p.Lys572Met) | |
11 | g.116748528T>C | CA382695158 | BUD13 | c.1814A>G (p.Lys605Arg) c.1412A>G (p.Lys471Arg) c.589A>G c.1715A>G (p.Lys572Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748528T>G | CA382695156 | BUD13 | c.1814A>C (p.Lys605Thr) c.1412A>C (p.Lys471Thr) c.589A>C c.1715A>C (p.Lys572Thr) | |
11 | g.116748528T= | CA2002706008 | BUD13 | c.1814A= (p.Lys605=) c.1412A= (p.Lys471=) c.589A= c.1715A= (p.Lys572=) | |
11 | g.116748529T>A | CA382695159 | BUD13 | c.1813A>T (p.Lys605Ter) c.1411A>T (p.Lys471Ter) c.588A>T c.1714A>T (p.Lys572Ter) | |
11 | g.116748529T>C | CA382695161 | BUD13 | c.1813A>G (p.Lys605Glu) c.1411A>G (p.Lys471Glu) c.588A>G c.1714A>G (p.Lys572Glu) | |
11 | g.116748529T>G | CA382695160 | BUD13 | c.1813A>C (p.Lys605Gln) c.1411A>C (p.Lys471Gln) c.588A>C c.1714A>C (p.Lys572Gln) | |
11 | g.116748530C>A | CA382695162 | BUD13 | c.1812G>T (p.Lys604Asn) c.1410G>T (p.Lys470Asn) c.587G>T c.1713G>T (p.Lys571Asn) | |
11 | g.116748530C>G | CA382695163 | BUD13 | c.1812G>C (p.Lys604Asn) c.1410G>C (p.Lys470Asn) c.587G>C c.1713G>C (p.Lys571Asn) | |
11 | g.116748530C>T | CA476866920 | BUD13 | c.1812G>A (p.Lys604=) c.1410G>A (p.Lys470=) c.587G>A c.1713G>A (p.Lys571=) | |
11 | g.116748531T>A | CA382695164 | BUD13 | c.1811A>T (p.Lys604Met) c.1409A>T (p.Lys470Met) c.586A>T c.1712A>T (p.Lys571Met) | |
11 | g.116748531T>C | CA382695165 | BUD13 | c.1811A>G (p.Lys604Arg) c.1409A>G (p.Lys470Arg) c.586A>G c.1712A>G (p.Lys571Arg) | |
11 | g.116748531T>G | CA382695166 | BUD13 | c.1811A>C (p.Lys604Thr) c.1409A>C (p.Lys470Thr) c.586A>C c.1712A>C (p.Lys571Thr) | |
11 | g.116748532T>A | CA382695167 | BUD13 | c.1810A>T (p.Lys604Ter) c.1408A>T (p.Lys470Ter) c.585A>T c.1711A>T (p.Lys571Ter) | |
11 | g.116748532T>C | CA382695168 | BUD13 | c.1810A>G (p.Lys604Glu) c.1408A>G (p.Lys470Glu) c.585A>G c.1711A>G (p.Lys571Glu) | |
11 | g.116748532T>G | CA382695169 | BUD13 | c.1810A>C (p.Lys604Gln) c.1408A>C (p.Lys470Gln) c.585A>C c.1711A>C (p.Lys571Gln) | |
11 | g.116748533G>A | CA476866921 | BUD13 | c.1809C>T (p.Ser603=) c.1407C>T (p.Ser469=) c.584C>T c.1710C>T (p.Ser570=) | |
11 | g.116748533G>C | CA382695170 | BUD13 | c.1809C>G (p.Ser603Arg) c.1407C>G (p.Ser469Arg) c.584C>G c.1710C>G (p.Ser570Arg) | |
11 | g.116748533G>T | CA382695171 | BUD13 | c.1809C>A (p.Ser603Arg) c.1407C>A (p.Ser469Arg) c.584C>A c.1710C>A (p.Ser570Arg) | |
11 | g.116748534C>A | CA382695172 | BUD13 | c.1808G>T (p.Ser603Ile) c.1406G>T (p.Ser469Ile) c.583G>T c.1709G>T (p.Ser570Ile) | |
11 | g.116748534C>G | CA382695173 | BUD13 | c.1808G>C (p.Ser603Thr) c.1406G>C (p.Ser469Thr) c.583G>C c.1709G>C (p.Ser570Thr) | |
11 | g.116748534C>T | CA382695174 | BUD13 | c.1808G>A (p.Ser603Asn) c.1406G>A (p.Ser469Asn) c.583G>A c.1709G>A (p.Ser570Asn) | COSMIC |
11 | g.116748534dup | CA2793763201 | BUD13 | c.1808dup (p.Ser603ArgfsTer15) c.1406dup (p.Ser469ArgfsTer15) c.583dup c.1709dup (p.Ser570ArgfsTer15) | |
11 | g.116748535T>A | CA382695175 | BUD13 | c.1807A>T (p.Ser603Cys) c.1405A>T (p.Ser469Cys) c.582A>T c.1708A>T (p.Ser570Cys) | |
11 | g.116748535T>C | CA229294054 | BUD13 | c.1807A>G (p.Ser603Gly) c.1405A>G (p.Ser469Gly) c.582A>G c.1708A>G (p.Ser570Gly) | dbSNP |
11 | g.116748535T>G | CA382695176 | BUD13 | c.1807A>C (p.Ser603Arg) c.1405A>C (p.Ser469Arg) c.582A>C c.1708A>C (p.Ser570Arg) | |
11 | g.116748535T= | CA2002706014 | BUD13 | c.1807A= (p.Ser603=) c.1405A= (p.Ser469=) c.582A= c.1708A= (p.Ser570=) | |
11 | g.116748536G>A | CA6287874 | BUD13 | c.1806C>T (p.Ala602=) c.1404C>T (p.Ala468=) c.581C>T c.1707C>T (p.Ala569=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116748536G>C | CA476866922 | BUD13 | c.1806C>G (p.Ala602=) c.1404C>G (p.Ala468=) c.581C>G c.1707C>G (p.Ala569=) | |
11 | g.116748536G= | CA2002706019 | BUD13 | c.1806C= (p.Ala602=) c.1404C= (p.Ala468=) c.581C= c.1707C= (p.Ala569=) | |
11 | g.116748536G>T | CA476866923 | BUD13 | c.1806C>A (p.Ala602=) c.1404C>A (p.Ala468=) c.581C>A c.1707C>A (p.Ala569=) | |
11 | g.116748537G>A | CA6287875 | BUD13 | c.1805C>T (p.Ala602Val) c.1403C>T (p.Ala468Val) c.580C>T c.1706C>T (p.Ala569Val) | dbSNP ExAC gnomAD v2 COSMIC |
11 | g.116748537G>C | CA382695177 | BUD13 | c.1805C>G (p.Ala602Gly) c.1403C>G (p.Ala468Gly) c.580C>G c.1706C>G (p.Ala569Gly) | |
11 | g.116748537G= | CA2002706027 | BUD13 | c.1805C= (p.Ala602=) c.1403C= (p.Ala468=) c.580C= c.1706C= (p.Ala569=) | |
11 | g.116748537G>T | CA382695178 | BUD13 | c.1805C>A (p.Ala602Asp) c.1403C>A (p.Ala468Asp) c.580C>A c.1706C>A (p.Ala569Asp) | |
11 | g.116748538C>A | CA382695179 | BUD13 | c.1804G>T (p.Ala602Ser) c.1402G>T (p.Ala468Ser) c.579G>T c.1705G>T (p.Ala569Ser) | |
11 | g.116748538C>G | CA382695180 | BUD13 | c.1804G>C (p.Ala602Pro) c.1402G>C (p.Ala468Pro) c.579G>C c.1705G>C (p.Ala569Pro) | gnomAD v4 |
11 | g.116748538C>T | CA382695181 | BUD13 | c.1804G>A (p.Ala602Thr) c.1402G>A (p.Ala468Thr) c.579G>A c.1705G>A (p.Ala569Thr) | |
11 | g.116748539A>C | CA476866924 | BUD13 | c.1803T>G (p.Leu601=) c.1401T>G (p.Leu467=) c.578T>G c.1704T>G (p.Leu568=) | |
11 | g.116748539A>G | CA476866925 | BUD13 | c.1803T>C (p.Leu601=) c.1401T>C (p.Leu467=) c.578T>C c.1704T>C (p.Leu568=) | |
11 | g.116748539A>T | CA476866926 | BUD13 | c.1803T>A (p.Leu601=) c.1401T>A (p.Leu467=) c.578T>A c.1704T>A (p.Leu568=) | |
11 | g.116748540A>C | CA382695182 | BUD13 | c.1802T>G (p.Leu601Arg) c.1400T>G (p.Leu467Arg) c.577T>G c.1703T>G (p.Leu568Arg) | gnomAD v4 |
11 | g.116748540A>G | CA382695183 | BUD13 | c.1802T>C (p.Leu601Pro) c.1400T>C (p.Leu467Pro) c.577T>C c.1703T>C (p.Leu568Pro) | |
11 | g.116748540A>T | CA382695184 | BUD13 | c.1802T>A (p.Leu601His) c.1400T>A (p.Leu467His) c.577T>A c.1703T>A (p.Leu568His) | |
11 | g.116748541G>A | CA382695187 | BUD13 | c.1801C>T (p.Leu601Phe) c.1399C>T (p.Leu467Phe) c.576C>T c.1702C>T (p.Leu568Phe) | |
11 | g.116748541G>C | CA382695186 | BUD13 | c.1801C>G (p.Leu601Val) c.1399C>G (p.Leu467Val) c.576C>G c.1702C>G (p.Leu568Val) | |
11 | g.116748541G>T | CA382695185 | BUD13 | c.1801C>A (p.Leu601Ile) c.1399C>A (p.Leu467Ile) c.576C>A c.1702C>A (p.Leu568Ile) | |
11 | g.116748542C>A | CA382695189 | BUD13 | c.1800G>T (p.Arg600Ser) c.1398G>T (p.Arg466Ser) c.575G>T c.1701G>T (p.Arg567Ser) | |
11 | g.116748542C>G | CA382695188 | BUD13 | c.1800G>C (p.Arg600Ser) c.1398G>C (p.Arg466Ser) c.575G>C c.1701G>C (p.Arg567Ser) | |
11 | g.116748542C>T | CA476866927 | BUD13 | c.1800G>A (p.Arg600=) c.1398G>A (p.Arg466=) c.575G>A c.1701G>A (p.Arg567=) | |
11 | g.116748543C>A | CA382695190 | BUD13 | c.1799G>T (p.Arg600Met) c.1397G>T (p.Arg466Met) c.574G>T c.1700G>T (p.Arg567Met) | |
11 | g.116748543C>G | CA382695191 | BUD13 | c.1799G>C (p.Arg600Thr) c.1397G>C (p.Arg466Thr) c.574G>C c.1700G>C (p.Arg567Thr) | |
11 | g.116748543C>T | CA382695192 | BUD13 | c.1799G>A (p.Arg600Lys) c.1397G>A (p.Arg466Lys) c.574G>A c.1700G>A (p.Arg567Lys) | |
11 | g.116748544T>A | CA382695193 | BUD13 | c.1798A>T (p.Arg600Trp) c.1396A>T (p.Arg466Trp) c.573A>T c.1699A>T (p.Arg567Trp) | dbSNP |
11 | g.116748544T>C | CA382695194 | BUD13 | c.1798A>G (p.Arg600Gly) c.1396A>G (p.Arg466Gly) c.573A>G c.1699A>G (p.Arg567Gly) | |
11 | g.116748544T>G | CA476866928 | BUD13 | c.1798A>C (p.Arg600=) c.1396A>C (p.Arg466=) c.573A>C c.1699A>C (p.Arg567=) | |
11 | g.116748545G>A | CA476866929 | BUD13 | c.1797C>T (p.Ala599=) c.1395C>T (p.Ala465=) c.572C>T c.1698C>T (p.Ala566=) | |
11 | g.116748545G>C | CA476866930 | BUD13 | c.1797C>G (p.Ala599=) c.1395C>G (p.Ala465=) c.572C>G c.1698C>G (p.Ala566=) | |
11 | g.116748545G>T | CA476866931 | BUD13 | c.1797C>A (p.Ala599=) c.1395C>A (p.Ala465=) c.572C>A c.1698C>A (p.Ala566=) | |
11 | g.116748546G>A | CA382695197 | BUD13 | c.1796C>T (p.Ala599Val) c.1394C>T (p.Ala465Val) c.571C>T c.1697C>T (p.Ala566Val) | |
11 | g.116748546G>C | CA382695195 | BUD13 | c.1796C>G (p.Ala599Gly) c.1394C>G (p.Ala465Gly) c.571C>G c.1697C>G (p.Ala566Gly) | |
11 | g.116748546G>T | CA382695196 | BUD13 | c.1796C>A (p.Ala599Asp) c.1394C>A (p.Ala465Asp) c.571C>A c.1697C>A (p.Ala566Asp) | |
11 | g.116748547C>A | CA382695198 | BUD13 | c.1795G>T (p.Ala599Ser) c.1393G>T (p.Ala465Ser) c.570G>T c.1696G>T (p.Ala566Ser) | |
11 | g.116748547C>G | CA382695199 | BUD13 | c.1795G>C (p.Ala599Pro) c.1393G>C (p.Ala465Pro) c.570G>C c.1696G>C (p.Ala566Pro) | |
11 | g.116748547C>T | CA382695200 | BUD13 | c.1795G>A (p.Ala599Thr) c.1393G>A (p.Ala465Thr) c.570G>A c.1696G>A (p.Ala566Thr) | |
11 | g.116748548A>C | CA382695201 | BUD13 | c.1794T>G (p.Phe598Leu) c.1392T>G (p.Phe464Leu) c.569T>G c.1695T>G (p.Phe565Leu) | |
11 | g.116748548A>G | CA476866932 | BUD13 | c.1794T>C (p.Phe598=) c.1392T>C (p.Phe464=) c.569T>C c.1695T>C (p.Phe565=) | |
11 | g.116748548A>T | CA382695202 | BUD13 | c.1794T>A (p.Phe598Leu) c.1392T>A (p.Phe464Leu) c.569T>A c.1695T>A (p.Phe565Leu) | |
11 | g.116748549A>C | CA382695203 | BUD13 | c.1793T>G (p.Phe598Cys) c.1391T>G (p.Phe464Cys) c.568T>G c.1694T>G (p.Phe565Cys) | |
11 | g.116748549A>G | CA382695205 | BUD13 | c.1793T>C (p.Phe598Ser) c.1391T>C (p.Phe464Ser) c.568T>C c.1694T>C (p.Phe565Ser) | |
11 | g.116748549A>T | CA382695204 | BUD13 | c.1793T>A (p.Phe598Tyr) c.1391T>A (p.Phe464Tyr) c.568T>A c.1694T>A (p.Phe565Tyr) | |
11 | g.116748550A= | CA2002706030 | BUD13 | c.1792T= (p.Phe598=) c.1390T= (p.Phe464=) c.567T= c.1693T= (p.Phe565=) | |
11 | g.116748550A>C | CA382695206 | BUD13 | c.1792T>G (p.Phe598Val) c.1390T>G (p.Phe464Val) c.567T>G c.1693T>G (p.Phe565Val) | |
11 | g.116748550A>G | CA382695207 | BUD13 | c.1792T>C (p.Phe598Leu) c.1390T>C (p.Phe464Leu) c.567T>C c.1693T>C (p.Phe565Leu) | dbSNP |
11 | g.116748550A>T | CA382695208 | BUD13 | c.1792T>A (p.Phe598Ile) c.1390T>A (p.Phe464Ile) c.567T>A c.1693T>A (p.Phe565Ile) | |
11 | g.116748551G>A | CA476866933 | BUD13 | c.1791C>T (p.Arg597=) c.1389C>T (p.Arg463=) c.566C>T c.1692C>T (p.Arg564=) | |
11 | g.116748551G>C | CA476866934 | BUD13 | c.1791C>G (p.Arg597=) c.1389C>G (p.Arg463=) c.566C>G c.1692C>G (p.Arg564=) | |
11 | g.116748551G>T | CA476866935 | BUD13 | c.1791C>A (p.Arg597=) c.1389C>A (p.Arg463=) c.566C>A c.1692C>A (p.Arg564=) | |
11 | g.116748552C>A | CA382695209 | BUD13 | c.1790G>T (p.Arg597Leu) c.1388G>T (p.Arg463Leu) c.565G>T c.1691G>T (p.Arg564Leu) | |
11 | g.116748552C= | CA2002706034 | BUD13 | c.1790G= (p.Arg597=) c.1388G= (p.Arg463=) c.565G= c.1691G= (p.Arg564=) | |
11 | g.116748552C>G | CA382695210 | BUD13 | c.1790G>C (p.Arg597Pro) c.1388G>C (p.Arg463Pro) c.565G>C c.1691G>C (p.Arg564Pro) | |
11 | g.116748552C>T | CA6287876 | BUD13 | c.1790G>A (p.Arg597His) c.1388G>A (p.Arg463His) c.565G>A c.1691G>A (p.Arg564His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748553G>A | CA6287877 | BUD13 | c.1789C>T (p.Arg597Cys) c.1387C>T (p.Arg463Cys) c.564C>T c.1690C>T (p.Arg564Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748553G>C | CA382695211 | BUD13 | c.1789C>G (p.Arg597Gly) c.1387C>G (p.Arg463Gly) c.564C>G c.1690C>G (p.Arg564Gly) | |
11 | g.116748553G= | CA2002706041 | BUD13 | c.1789C= (p.Arg597=) c.1387C= (p.Arg463=) c.564C= c.1690C= (p.Arg564=) | |
11 | g.116748553G>T | CA382695212 | BUD13 | c.1789C>A (p.Arg597Ser) c.1387C>A (p.Arg463Ser) c.564C>A c.1690C>A (p.Arg564Ser) | |
11 | g.116748554C>A | CA382695213 | BUD13 | c.1788G>T (p.Lys596Asn) c.1386G>T (p.Lys462Asn) c.563G>T c.1689G>T (p.Lys563Asn) | |
11 | g.116748554C>G | CA382695214 | BUD13 | c.1788G>C (p.Lys596Asn) c.1386G>C (p.Lys462Asn) c.563G>C c.1689G>C (p.Lys563Asn) | |
11 | g.116748554C>T | CA476866936 | BUD13 | c.1788G>A (p.Lys596=) c.1386G>A (p.Lys462=) c.563G>A c.1689G>A (p.Lys563=) | |
11 | g.116748555T>A | CA382695216 | BUD13 | c.1787A>T (p.Lys596Met) c.1385A>T (p.Lys462Met) c.562A>T c.1688A>T (p.Lys563Met) | |
11 | g.116748555T>C | CA382695217 | BUD13 | c.1787A>G (p.Lys596Arg) c.1385A>G (p.Lys462Arg) c.562A>G c.1688A>G (p.Lys563Arg) | |
11 | g.116748555T>G | CA382695215 | BUD13 | c.1787A>C (p.Lys596Thr) c.1385A>C (p.Lys462Thr) c.562A>C c.1688A>C (p.Lys563Thr) | |
11 | g.116748556del | CA2616107718 | BUD13 | c.1787del (p.Lys596SerfsTer?) c.1385del (p.Lys462SerfsTer?) c.562del c.1688del (p.Lys563SerfsTer?) | gnomAD v4 |
11 | g.116748556T>A | CA382695218 | BUD13 | c.1786A>T (p.Lys596Ter) c.1384A>T (p.Lys462Ter) c.561A>T c.1687A>T (p.Lys563Ter) | |
11 | g.116748556T>C | CA382695220 | BUD13 | c.1786A>G (p.Lys596Glu) c.1384A>G (p.Lys462Glu) c.561A>G c.1687A>G (p.Lys563Glu) | |
11 | g.116748556T>G | CA382695219 | BUD13 | c.1786A>C (p.Lys596Gln) c.1384A>C (p.Lys462Gln) c.561A>C c.1687A>C (p.Lys563Gln) | |
11 | g.116748557C>A | CA382695221 | BUD13 | c.1785G>T (p.Gln595His) c.1383G>T (p.Gln461His) c.560G>T c.1686G>T (p.Gln562His) | |
11 | g.116748557C>G | CA382695222 | BUD13 | c.1785G>C (p.Gln595His) c.1383G>C (p.Gln461His) c.560G>C c.1686G>C (p.Gln562His) | |
11 | g.116748557C>T | CA476866937 | BUD13 | c.1785G>A (p.Gln595=) c.1383G>A (p.Gln461=) c.560G>A c.1686G>A (p.Gln562=) | |
11 | g.116748558T>A | CA382695223 | BUD13 | c.1784A>T (p.Gln595Leu) c.1382A>T (p.Gln461Leu) c.559A>T c.1685A>T (p.Gln562Leu) | |
11 | g.116748558T>C | CA382695224 | BUD13 | c.1784A>G (p.Gln595Arg) c.1382A>G (p.Gln461Arg) c.559A>G c.1685A>G (p.Gln562Arg) | gnomAD v4 |
11 | g.116748558T>G | CA382695225 | BUD13 | c.1784A>C (p.Gln595Pro) c.1382A>C (p.Gln461Pro) c.559A>C c.1685A>C (p.Gln562Pro) | |
11 | g.116748559G>A | CA382695226 | BUD13 | c.1783C>T (p.Gln595Ter) c.1381C>T (p.Gln461Ter) c.558C>T c.1684C>T (p.Gln562Ter) | |
11 | g.116748559G>C | CA382695227 | BUD13 | c.1783C>G (p.Gln595Glu) c.1381C>G (p.Gln461Glu) c.558C>G c.1684C>G (p.Gln562Glu) | gnomAD v4 |
11 | g.116748559G>T | CA382695228 | BUD13 | c.1783C>A (p.Gln595Lys) c.1381C>A (p.Gln461Lys) c.558C>A c.1684C>A (p.Gln562Lys) | COSMIC |
11 | g.116748560T>A | CA382695229 | BUD13 | c.1782A>T (p.Glu594Asp) c.1380A>T (p.Glu460Asp) c.557A>T c.1683A>T (p.Glu561Asp) | |
11 | g.116748560T>C | CA476866938 | BUD13 | c.1782A>G (p.Glu594=) c.1380A>G (p.Glu460=) c.557A>G c.1683A>G (p.Glu561=) | |
11 | g.116748560T>G | CA382695230 | BUD13 | c.1782A>C (p.Glu594Asp) c.1380A>C (p.Glu460Asp) c.557A>C c.1683A>C (p.Glu561Asp) | |
11 | g.116748561T>A | CA382695233 | BUD13 | c.1781A>T (p.Glu594Val) c.1379A>T (p.Glu460Val) c.556A>T c.1682A>T (p.Glu561Val) | |
11 | g.116748561T>C | CA382695232 | BUD13 | c.1781A>G (p.Glu594Gly) c.1379A>G (p.Glu460Gly) c.556A>G c.1682A>G (p.Glu561Gly) | |
11 | g.116748561T>G | CA382695231 | BUD13 | c.1781A>C (p.Glu594Ala) c.1379A>C (p.Glu460Ala) c.556A>C c.1682A>C (p.Glu561Ala) | |
11 | g.116748562C>A | CA382695234 | BUD13 | c.1780G>T (p.Glu594Ter) c.1378G>T (p.Glu460Ter) c.555G>T c.1681G>T (p.Glu561Ter) | |
11 | g.116748562C>G | CA382695235 | BUD13 | c.1780G>C (p.Glu594Gln) c.1378G>C (p.Glu460Gln) c.555G>C c.1681G>C (p.Glu561Gln) | |
11 | g.116748562C>T | CA382695236 | BUD13 | c.1780G>A (p.Glu594Lys) c.1378G>A (p.Glu460Lys) c.555G>A c.1681G>A (p.Glu561Lys) | |
11 | g.116748563A>C | CA382695237 | BUD13 | c.1779T>G (p.Phe593Leu) c.1377T>G (p.Phe459Leu) c.554T>G c.1680T>G (p.Phe560Leu) | |
11 | g.116748563A>G | CA476866939 | BUD13 | c.1779T>C (p.Phe593=) c.1377T>C (p.Phe459=) c.554T>C c.1680T>C (p.Phe560=) | |
11 | g.116748563A>T | CA382695238 | BUD13 | c.1779T>A (p.Phe593Leu) c.1377T>A (p.Phe459Leu) c.554T>A c.1680T>A (p.Phe560Leu) | |
11 | g.116748564A>C | CA382695239 | BUD13 | c.1778T>G (p.Phe593Cys) c.1376T>G (p.Phe459Cys) c.553T>G c.1679T>G (p.Phe560Cys) | |
11 | g.116748564A>G | CA382695240 | BUD13 | c.1778T>C (p.Phe593Ser) c.1376T>C (p.Phe459Ser) c.553T>C c.1679T>C (p.Phe560Ser) | |
11 | g.116748564A>T | CA382695241 | BUD13 | c.1778T>A (p.Phe593Tyr) c.1376T>A (p.Phe459Tyr) c.553T>A c.1679T>A (p.Phe560Tyr) | |
11 | g.116748565A>C | CA382695242 | BUD13 | c.1777T>G (p.Phe593Val) c.1375T>G (p.Phe459Val) c.552T>G c.1678T>G (p.Phe560Val) | |
11 | g.116748565A>G | CA382695243 | BUD13 | c.1777T>C (p.Phe593Leu) c.1375T>C (p.Phe459Leu) c.552T>C c.1678T>C (p.Phe560Leu) | |
11 | g.116748565A>T | CA382695244 | BUD13 | c.1777T>A (p.Phe593Ile) c.1375T>A (p.Phe459Ile) c.552T>A c.1678T>A (p.Phe560Ile) | |
11 | g.116748566T>A | CA476866940 | BUD13 | c.1776A>T (p.Gly592=) c.1374A>T (p.Gly458=) c.551A>T c.1677A>T (p.Gly559=) | |
11 | g.116748566T>C | CA476866941 | BUD13 | c.1776A>G (p.Gly592=) c.1374A>G (p.Gly458=) c.551A>G c.1677A>G (p.Gly559=) | |
11 | g.116748566T>G | CA476866942 | BUD13 | c.1776A>C (p.Gly592=) c.1374A>C (p.Gly458=) c.551A>C c.1677A>C (p.Gly559=) | |
11 | g.116748567C>A | CA382695246 | BUD13 | c.1775G>T (p.Gly592Val) c.1373G>T (p.Gly458Val) c.550G>T c.1676G>T (p.Gly559Val) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748567C= | CA2002706044 | BUD13 | c.1775G= (p.Gly592=) c.1373G= (p.Gly458=) c.550G= c.1676G= (p.Gly559=) | |
11 | g.116748567C>G | CA382695247 | BUD13 | c.1775G>C (p.Gly592Ala) c.1373G>C (p.Gly458Ala) c.550G>C c.1676G>C (p.Gly559Ala) | |
11 | g.116748567C>T | CA382695245 | BUD13 | c.1775G>A (p.Gly592Glu) c.1373G>A (p.Gly458Glu) c.550G>A c.1676G>A (p.Gly559Glu) | |
11 | g.116748568C>A | CA382695248 | BUD13 | c.1774G>T (p.Gly592Ter) c.1372G>T (p.Gly458Ter) c.549G>T c.1675G>T (p.Gly559Ter) | |
11 | g.116748568C>G | CA382695249 | BUD13 | c.1774G>C (p.Gly592Arg) c.1372G>C (p.Gly458Arg) c.549G>C c.1675G>C (p.Gly559Arg) | |
11 | g.116748568C>T | CA382695250 | BUD13 | c.1774G>A (p.Gly592Arg) c.1372G>A (p.Gly458Arg) c.549G>A c.1675G>A (p.Gly559Arg) | |
11 | g.116748569A= | CA2002706051 | BUD13 | c.1773T= (p.Asn591=) c.1371T= (p.Asn457=) c.548T= c.1674T= (p.Asn558=) | |
11 | g.116748569A>C | CA382695251 | BUD13 | c.1773T>G (p.Asn591Lys) c.1371T>G (p.Asn457Lys) c.548T>G c.1674T>G (p.Asn558Lys) | |
11 | g.116748569A>G | CA476866943 | BUD13 | c.1773T>C (p.Asn591=) c.1371T>C (p.Asn457=) c.548T>C c.1674T>C (p.Asn558=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748569A>T | CA382695252 | BUD13 | c.1773T>A (p.Asn591Lys) c.1371T>A (p.Asn457Lys) c.548T>A c.1674T>A (p.Asn558Lys) | |
11 | g.116748570T>A | CA382695254 | BUD13 | c.1772A>T (p.Asn591Ile) c.1370A>T (p.Asn457Ile) c.547A>T c.1673A>T (p.Asn558Ile) | dbSNP |
11 | g.116748570T>C | CA6287878 | BUD13 | c.1772A>G (p.Asn591Ser) c.1370A>G (p.Asn457Ser) c.547A>G c.1673A>G (p.Asn558Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748570T>G | CA382695253 | BUD13 | c.1772A>C (p.Asn591Thr) c.1370A>C (p.Asn457Thr) c.547A>C c.1673A>C (p.Asn558Thr) | |
11 | g.116748570T= | CA2002706054 | BUD13 | c.1772A= (p.Asn591=) c.1370A= (p.Asn457=) c.547A= c.1673A= (p.Asn558=) | |
11 | g.116748571T>A | CA382695255 | BUD13 | c.1771A>T (p.Asn591Tyr) c.1369A>T (p.Asn457Tyr) c.546A>T c.1672A>T (p.Asn558Tyr) | |
11 | g.116748571T>C | CA382695256 | BUD13 | c.1771A>G (p.Asn591Asp) c.1369A>G (p.Asn457Asp) c.546A>G c.1672A>G (p.Asn558Asp) | |
11 | g.116748571T>G | CA382695257 | BUD13 | c.1771A>C (p.Asn591His) c.1369A>C (p.Asn457His) c.546A>C c.1672A>C (p.Asn558His) | |
11 | g.116748572G>A | CA476866944 | BUD13 | c.1770C>T (p.Ser590=) c.1368C>T (p.Ser456=) c.545C>T c.1671C>T (p.Ser557=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748572G>C | CA476866945 | BUD13 | c.1770C>G (p.Ser590=) c.1368C>G (p.Ser456=) c.545C>G c.1671C>G (p.Ser557=) | COSMIC |
11 | g.116748572G= | CA2002706059 | BUD13 | c.1770C= (p.Ser590=) c.1368C= (p.Ser456=) c.545C= c.1671C= (p.Ser557=) | |
11 | g.116748572G>T | CA476866946 | BUD13 | c.1770C>A (p.Ser590=) c.1368C>A (p.Ser456=) c.545C>A c.1671C>A (p.Ser557=) | |
11 | g.116748573G>A | CA382695258 | BUD13 | c.1769C>T (p.Ser590Phe) c.1367C>T (p.Ser456Phe) c.544C>T c.1670C>T (p.Ser557Phe) | |
11 | g.116748573G>C | CA382695259 | BUD13 | c.1769C>G (p.Ser590Cys) c.1367C>G (p.Ser456Cys) c.544C>G c.1670C>G (p.Ser557Cys) | |
11 | g.116748573G>T | CA382695260 | BUD13 | c.1769C>A (p.Ser590Tyr) c.1367C>A (p.Ser456Tyr) c.544C>A c.1670C>A (p.Ser557Tyr) | |
11 | g.116748574A>C | CA382695261 | BUD13 | c.1768T>G (p.Ser590Ala) c.1366T>G (p.Ser456Ala) c.543T>G c.1669T>G (p.Ser557Ala) | |
11 | g.116748574A>G | CA382695263 | BUD13 | c.1768T>C (p.Ser590Pro) c.1366T>C (p.Ser456Pro) c.543T>C c.1669T>C (p.Ser557Pro) | |
11 | g.116748574A>T | CA382695262 | BUD13 | c.1768T>A (p.Ser590Thr) c.1366T>A (p.Ser456Thr) c.543T>A c.1669T>A (p.Ser557Thr) | |
11 | g.116748575T>A | CA382695264 | BUD13 | c.1767A>T (p.Arg589Ser) c.1365A>T (p.Arg455Ser) c.542A>T c.1668A>T (p.Arg556Ser) | |
11 | g.116748575T>C | CA476866947 | BUD13 | c.1767A>G (p.Arg589=) c.1365A>G (p.Arg455=) c.542A>G c.1668A>G (p.Arg556=) | |
11 | g.116748575T>G | CA382695265 | BUD13 | c.1767A>C (p.Arg589Ser) c.1365A>C (p.Arg455Ser) c.542A>C c.1668A>C (p.Arg556Ser) | |
11 | g.116748576C>A | CA382695266 | BUD13 | c.1767-1G>T (n.1767-1G>T) c.1365-1G>T (n.1365-1G>T) c.542-1G>T c.1668-1G>T (n.1668-1G>T) | |
11 | g.116748576C= | CA2002706064 | BUD13 | c.1767-1G= (n.1767-1G=) c.1365-1G= (n.1365-1G=) c.542-1G= c.1668-1G= (n.1668-1G=) | |
11 | g.116748576C>G | CA382695267 | BUD13 | c.1767-1G>C (n.1767-1G>C) c.1365-1G>C (n.1365-1G>C) c.542-1G>C c.1668-1G>C (n.1668-1G>C) | gnomAD v4 |
11 | g.116748576C>T | CA382695268 | BUD13 | c.1767-1G>A (n.1767-1G>A) c.1365-1G>A (n.1365-1G>A) c.542-1G>A c.1668-1G>A (n.1668-1G>A) | dbSNP gnomAD v2 |
11 | g.116748577T>A | CA382695269 | BUD13 | c.1767-2A>T (n.1767-2A>T) c.1365-2A>T (n.1365-2A>T) c.542-2A>T c.1668-2A>T (n.1668-2A>T) | |
11 | g.116748577T>C | CA382695270 | BUD13 | c.1767-2A>G (n.1767-2A>G) c.1365-2A>G (n.1365-2A>G) c.542-2A>G c.1668-2A>G (n.1668-2A>G) | |
11 | g.116748577T>G | CA382695271 | BUD13 | c.1767-2A>C (n.1767-2A>C) c.1365-2A>C (n.1365-2A>C) c.542-2A>C c.1668-2A>C (n.1668-2A>C) | |
11 | g.116748579C>T | CA2616107719 | BUD13 | c.1767-4G>A (n.1767-4G>A) c.1365-4G>A (n.1365-4G>A) c.542-4G>A c.1668-4G>A (n.1668-4G>A) | gnomAD v4 |
11 | g.116748580A= | CA2002706069 | BUD13 | c.1767-5T= (n.1767-5T=) c.1365-5T= (n.1365-5T=) c.542-5T= c.1668-5T= (n.1668-5T=) | |
11 | g.116748580A>G | CA6287879 | BUD13 | c.1767-5T>C (n.1767-5T>C) c.1365-5T>C (n.1365-5T>C) c.542-5T>C c.1668-5T>C (n.1668-5T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |