Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.116748404C>A | CA2002705747 | BUD13 | c.*78G>T (n.*78G>T) c.713G>T | dbSNP gnomAD v4 |
11 | g.116748404C= | CA2002705744 | BUD13 | c.*78G= (n.*78G=) c.713G= | |
11 | g.116748404C>T | CA229293853 | BUD13 | c.*78G>A (n.*78G>A) c.713G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748406G>A | CA2616107681 | BUD13 | c.*76C>T (n.*76C>T) c.711C>T | gnomAD v4 |
11 | g.116748407A= | CA2002705756 | BUD13 | c.*75T= (n.*75T=) c.710T= | |
11 | g.116748407A>G | CA672225387 | BUD13 | c.*75T>C (n.*75T>C) c.710T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748408C>A | CA2616107682 | BUD13 | c.*74G>T (n.*74G>T) c.709G>T | gnomAD v4 |
11 | g.116748410A>G | CA2616107683 | BUD13 | c.*72T>C (n.*72T>C) c.707T>C | gnomAD v4 |
11 | g.116748411del | CA2616107684 | BUD13 | c.*71del (n.*71del) c.706del | gnomAD v4 |
11 | g.116748413G>T | CA2616107685 | BUD13 | c.*69C>A (n.*69C>A) c.704C>A | gnomAD v4 |
11 | g.116748413_116748464dup | CA2793763194 | BUD13 | c.*18_*69dup (n.*18_*69dup) c.653_704dup | |
11 | g.116748414T>C | CA229293877 | BUD13 | c.*68A>G (n.*68A>G) c.703A>G | dbSNP |
11 | g.116748414T= | CA2002705760 | BUD13 | c.*68A= (n.*68A=) c.703A= | |
11 | g.116748415T>C | CA2616107686 | BUD13 | c.*67A>G (n.*67A>G) c.702A>G | gnomAD v4 |
11 | g.116748417C>A | CA2616107687 | BUD13 | c.*65G>T (n.*65G>T) c.700G>T | gnomAD v4 |
11 | g.116748417C>T | CA2616107688 | BUD13 | c.*65G>A (n.*65G>A) c.700G>A | gnomAD v4 |
11 | g.116748418del | CA2574985818 | BUD13 | c.*65del (n.*65del) c.700del | |
11 | g.116748418C>T | CA2793763195 | BUD13 | c.*64G>A (n.*64G>A) c.699G>A | |
11 | g.116748419A>C | CA2574985819 | BUD13 | c.*63T>G (n.*63T>G) c.698T>G | gnomAD v4 |
11 | g.116748419A>G | CA2616107689 | BUD13 | c.*63T>C (n.*63T>C) c.698T>C | gnomAD v4 |
11 | g.116748419A>T | CA2574985820 | BUD13 | c.*63T>A (n.*63T>A) c.698T>A | gnomAD v4 |
11 | g.116748421T>G | CA672225392 | BUD13 | c.*61A>C (n.*61A>C) c.696A>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748421T= | CA2002705766 | BUD13 | c.*61A= (n.*61A=) c.696A= | |
11 | g.116748423G>C | CA2616107691 | BUD13 | c.*59C>G (n.*59C>G) c.694C>G | gnomAD v4 |
11 | g.116748423G>T | CA2616107690 | BUD13 | c.*59C>A (n.*59C>A) c.694C>A | gnomAD v4 |
11 | g.116748424A= | CA2002705768 | BUD13 | c.*58T= (n.*58T=) c.693T= | |
11 | g.116748424A>C | CA2616107692 | BUD13 | c.*58T>G (n.*58T>G) c.693T>G | gnomAD v4 |
11 | g.116748424A>G | CA229293879 | BUD13 | c.*58T>C (n.*58T>C) c.693T>C | dbSNP gnomAD v4 |
11 | g.116748426_116748427dup | CA2552466793 | BUD13 | c.*57_*58dup (n.*57_*58dup) c.692_693dup | |
11 | g.116748427T>C | CA2002705806 | BUD13 | c.*55A>G (n.*55A>G) c.690A>G | dbSNP |
11 | g.116748427T>G | CA601817600 | BUD13 | c.*55A>C (n.*55A>C) c.690A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748427T= | CA2002705803 | BUD13 | c.*55A= (n.*55A=) c.690A= | |
11 | g.116748430C= | CA2002705810 | BUD13 | c.*52G= (n.*52G=) c.687G= | |
11 | g.116748430C>T | CA229293884 | BUD13 | c.*52G>A (n.*52G>A) c.687G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748431G>A | CA601817603 | BUD13 | c.*51C>T (n.*51C>T) c.686C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748431G= | CA2002705818 | BUD13 | c.*51C= (n.*51C=) c.686C= | |
11 | g.116748431G>T | CA2616107693 | BUD13 | c.*51C>A (n.*51C>A) c.686C>A | gnomAD v4 |
11 | g.116748432C>T | CA2574985821 | BUD13 | c.*50G>A (n.*50G>A) c.685G>A | gnomAD v4 |
11 | g.116748434G>A | CA2002705821 | BUD13 | c.*48C>T (n.*48C>T) c.683C>T | dbSNP |
11 | g.116748434G= | CA2002705820 | BUD13 | c.*48C= (n.*48C=) c.683C= | |
11 | g.116748434G>T | CA2616107694 | BUD13 | c.*48C>A (n.*48C>A) c.683C>A | gnomAD v4 |
11 | g.116748435C>G | CA2616107695 | BUD13 | c.*47G>C (n.*47G>C) c.682G>C | gnomAD v4 |
11 | g.116748435C>T | CA2616107696 | BUD13 | c.*47G>A (n.*47G>A) c.682G>A | gnomAD v4 |
11 | g.116748436C>G | CA2616107697 | BUD13 | c.*46G>C (n.*46G>C) c.681G>C | gnomAD v4 |
11 | g.116748438A= | CA2002705823 | BUD13 | c.*44T= (n.*44T=) c.679T= | |
11 | g.116748438A>G | CA6287859 | BUD13 | c.*44T>C (n.*44T>C) c.679T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748439T>C | CA6287860 | BUD13 | c.*43A>G (n.*43A>G) c.678A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748439T= | CA2002705825 | BUD13 | c.*43A= (n.*43A=) c.678A= | |
11 | g.116748440G>T | CA2574985822 | BUD13 | c.*42C>A (n.*42C>A) c.677C>A | gnomAD v4 |
11 | g.116748441C>A | CA6287861 | BUD13 | c.*41G>T (n.*41G>T) c.676G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116748441C= | CA2002705826 | BUD13 | c.*41G= (n.*41G=) c.676G= | |
11 | g.116748441C>T | CA2616107698 | BUD13 | c.*41G>A (n.*41G>A) c.676G>A | gnomAD v4 |
11 | g.116748442C>G | CA2574985823 | BUD13 | c.*40G>C (n.*40G>C) c.675G>C | |
11 | g.116748446_116748462dup | CA2616107699 | BUD13 | c.*24_*40dup (n.*24_*40dup) c.659_675dup | gnomAD v4 |
11 | g.116748444A>C | CA2616107700 | BUD13 | c.*38T>G (n.*38T>G) c.673T>G | gnomAD v4 |
11 | g.116748445C= | CA2002705828 | BUD13 | c.*37G= (n.*37G=) c.672G= | |
11 | g.116748445C>G | CA942594189 | BUD13 | c.*37G>C (n.*37G>C) c.672G>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748445C>T | CA2616107701 | BUD13 | c.*37G>A (n.*37G>A) c.672G>A | gnomAD v4 |
11 | g.116748447_116748463dup | CA2616107702 | BUD13 | c.*19_*35dup (n.*19_*35dup) c.654_670dup | gnomAD v4 |
11 | g.116748448C>T | CA2616107704 | BUD13 | c.*34G>A (n.*34G>A) c.669G>A | gnomAD v4 |
11 | g.116748456_116748472del | CA2616107703 | BUD13 | c.*18_*34del (n.*18_*34del) c.653_669del | gnomAD v4 |
11 | g.116748449C>A | CA2616107705 | BUD13 | c.*33G>T (n.*33G>T) c.668G>T | gnomAD v4 |
11 | g.116748450A= | CA2002705830 | BUD13 | c.*32T= (n.*32T=) c.667T= | |
11 | g.116748450A>G | CA2002705831 | BUD13 | c.*32T>C (n.*32T>C) c.667T>C | dbSNP gnomAD v4 |
11 | g.116748451C>T | CA2616107706 | BUD13 | c.*31G>A (n.*31G>A) c.666G>A | gnomAD v4 |
11 | g.116748452A= | CA2002705837 | BUD13 | c.*30T= (n.*30T=) c.665T= | |
11 | g.116748452A>G | CA672225402 | BUD13 | c.*30T>C (n.*30T>C) c.665T>C | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748453G>T | CA2616107707 | BUD13 | c.*29C>A (n.*29C>A) c.664C>A | gnomAD v4 |
11 | g.116748454C= | CA2002705843 | BUD13 | c.*28G= (n.*28G=) c.663G= | |
11 | g.116748454C>T | CA6287862 | BUD13 | c.*28G>A (n.*28G>A) c.663G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748456C>T | CA2616107708 | BUD13 | c.*26G>A (n.*26G>A) c.661G>A | gnomAD v4 |
11 | g.116748457A= | CA2002705846 | BUD13 | c.*25T= (n.*25T=) c.660T= | |
11 | g.116748457A>G | CA6287863 | BUD13 | c.*25T>C (n.*25T>C) c.660T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748458G>A | CA2616107709 | BUD13 | c.*24C>T (n.*24C>T) c.659C>T | gnomAD v4 |
11 | g.116748459C>A | CA2616107710 | BUD13 | c.*23G>T (n.*23G>T) c.658G>T | gnomAD v4 |
11 | g.116748459C= | CA2002705855 | BUD13 | c.*23G= (n.*23G=) c.658G= | |
11 | g.116748459C>T | CA672225404 | BUD13 | c.*23G>A (n.*23G>A) c.658G>A | dbSNP gnomAD v4 |
11 | g.116748461_116748462delinsAC | CA2002705859 | BUD13 | c.*20_*21delinsGT (n.*20_*21delinsGT) c.655_656delinsGT | |
11 | g.116748462C>A | CA672225409 | BUD13 | c.*20G>T (n.*20G>T) c.655G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748462C= | CA2002705866 | BUD13 | c.*20G= (n.*20G=) c.655G= | |
11 | g.116748462C>T | CA6287865 | BUD13 | c.*20G>A (n.*20G>A) c.655G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748466dup | CA2793763198 | BUD13 | c.*20dup (n.*20dup) c.655dup | |
11 | g.116748466del | CA6287864 | BUD13 | c.*20del (n.*20del) c.655del | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.116748463C>A | CA2574985824 | BUD13 | c.*19G>T (n.*19G>T) c.654G>T | |
11 | g.116748463C>T | CA2616107711 | BUD13 | c.*19G>A (n.*19G>A) c.654G>A | gnomAD v4 |
11 | g.116748464C>A | CA2616107712 | BUD13 | c.*18G>T (n.*18G>T) c.653G>T | gnomAD v4 |
11 | g.116748464C= | CA2002705871 | BUD13 | c.*18G= (n.*18G=) c.653G= | |
11 | g.116748464C>G | CA6287866 | BUD13 | c.*18G>C (n.*18G>C) c.653G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748465C= | CA2002705876 | BUD13 | c.*17G= (n.*17G=) c.652G= | |
11 | g.116748465C>G | CA229293962 | BUD13 | c.*17G>C (n.*17G>C) c.652G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748466C= | CA2002705881 | BUD13 | c.*16G= (n.*16G=) c.651G= | |
11 | g.116748466C>G | CA6287868 | BUD13 | c.*16G>C (n.*16G>C) c.651G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748466C>T | CA6287867 | BUD13 | c.*16G>A (n.*16G>A) c.651G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.116748467A>G | CA2616107713 | BUD13 | c.*15T>C (n.*15T>C) c.650T>C | gnomAD v4 |
11 | g.116748468C= | CA2002705886 | BUD13 | c.*14G= (n.*14G=) c.649G= | |
11 | g.116748468C>T | CA601817643 | BUD13 | c.*14G>A (n.*14G>A) c.649G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748469A= | CA2002705893 | BUD13 | c.*13T= (n.*13T=) c.648T= | |
11 | g.116748469A>G | CA2616107714 | BUD13 | c.*13T>C (n.*13T>C) c.648T>C | gnomAD v4 |
11 | g.116748469A>T | CA672225416 | BUD13 | c.*13T>A (n.*13T>A) c.648T>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.116748470G>A | CA2616107715 | BUD13 | c.*12C>T (n.*12C>T) c.647C>T | gnomAD v4 |
11 | g.116748470G>C | CA2002705897 | BUD13 | c.*12C>G (n.*12C>G) c.647C>G | dbSNP |
11 | g.116748470G= | CA2002705896 | BUD13 | c.*12C= (n.*12C=) c.647C= | |
11 | g.116748472C= | CA2002705901 | BUD13 | c.*10G= (n.*10G=) c.645G= | |
11 | g.116748472C>G | CA601817644 | BUD13 | c.*10G>C (n.*10G>C) c.645G>C | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748474C>T | CA2616107716 | BUD13 | c.*8G>A (n.*8G>A) c.643G>A | gnomAD v4 |
11 | g.116748476G>A | CA601817645 | BUD13 | c.*6C>T (n.*6C>T) c.641C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.116748476G= | CA2002705904 | BUD13 | c.*6C= (n.*6C=) c.641C= | |
11 | g.116748477G>A | CA2574985825 | BUD13 | c.*5C>T (n.*5C>T) c.640C>T | gnomAD v4 |
11 | g.116748477G>C | CA2616107717 | BUD13 | c.*5C>G (n.*5C>G) c.640C>G | gnomAD v4 |
11 | g.116748478A= | CA2002705908 | BUD13 | c.*4T= (n.*4T=) c.639T= | |
11 | g.116748478A>G | CA2002705910 | BUD13 | c.*4T>C (n.*4T>C) c.639T>C | dbSNP |
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) |