Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.116748404C>ACA2002705747BUD13c.*78G>T (n.*78G>T)
c.713G>T
dbSNP gnomAD v4
11g.116748404C=CA2002705744BUD13c.*78G= (n.*78G=)
c.713G=
11g.116748404C>TCA229293853BUD13c.*78G>A (n.*78G>A)
c.713G>A
dbSNP gnomAD v3 gnomAD v4
11g.116748406G>ACA2616107681BUD13c.*76C>T (n.*76C>T)
c.711C>T
gnomAD v4
11g.116748407A=CA2002705756BUD13c.*75T= (n.*75T=)
c.710T=
11g.116748407A>GCA672225387BUD13c.*75T>C (n.*75T>C)
c.710T>C
dbSNP gnomAD v3 gnomAD v4
11g.116748408C>ACA2616107682BUD13c.*74G>T (n.*74G>T)
c.709G>T
gnomAD v4
11g.116748410A>GCA2616107683BUD13c.*72T>C (n.*72T>C)
c.707T>C
gnomAD v4
11g.116748411delCA2616107684BUD13c.*71del (n.*71del)
c.706del
gnomAD v4
11g.116748413G>TCA2616107685BUD13c.*69C>A (n.*69C>A)
c.704C>A
gnomAD v4
11g.116748413_116748464dupCA2793763194BUD13c.*18_*69dup (n.*18_*69dup)
c.653_704dup
11g.116748414T>CCA229293877BUD13c.*68A>G (n.*68A>G)
c.703A>G
dbSNP
11g.116748414T=CA2002705760BUD13c.*68A= (n.*68A=)
c.703A=
11g.116748415T>CCA2616107686BUD13c.*67A>G (n.*67A>G)
c.702A>G
gnomAD v4
11g.116748417C>ACA2616107687BUD13c.*65G>T (n.*65G>T)
c.700G>T
gnomAD v4
11g.116748417C>TCA2616107688BUD13c.*65G>A (n.*65G>A)
c.700G>A
gnomAD v4
11g.116748418delCA2574985818BUD13c.*65del (n.*65del)
c.700del
11g.116748418C>TCA2793763195BUD13c.*64G>A (n.*64G>A)
c.699G>A
11g.116748419A>CCA2574985819BUD13c.*63T>G (n.*63T>G)
c.698T>G
gnomAD v4
11g.116748419A>GCA2616107689BUD13c.*63T>C (n.*63T>C)
c.698T>C
gnomAD v4
11g.116748419A>TCA2574985820BUD13c.*63T>A (n.*63T>A)
c.698T>A
gnomAD v4
11g.116748421T>GCA672225392BUD13c.*61A>C (n.*61A>C)
c.696A>C
dbSNP gnomAD v3 gnomAD v4
11g.116748421T=CA2002705766BUD13c.*61A= (n.*61A=)
c.696A=
11g.116748423G>CCA2616107691BUD13c.*59C>G (n.*59C>G)
c.694C>G
gnomAD v4
11g.116748423G>TCA2616107690BUD13c.*59C>A (n.*59C>A)
c.694C>A
gnomAD v4
11g.116748424A=CA2002705768BUD13c.*58T= (n.*58T=)
c.693T=
11g.116748424A>CCA2616107692BUD13c.*58T>G (n.*58T>G)
c.693T>G
gnomAD v4
11g.116748424A>GCA229293879BUD13c.*58T>C (n.*58T>C)
c.693T>C
dbSNP gnomAD v4
11g.116748426_116748427dupCA2552466793BUD13c.*57_*58dup (n.*57_*58dup)
c.692_693dup
11g.116748427T>CCA2002705806BUD13c.*55A>G (n.*55A>G)
c.690A>G
dbSNP
11g.116748427T>GCA601817600BUD13c.*55A>C (n.*55A>C)
c.690A>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116748427T=CA2002705803BUD13c.*55A= (n.*55A=)
c.690A=
11g.116748430C=CA2002705810BUD13c.*52G= (n.*52G=)
c.687G=
11g.116748430C>TCA229293884BUD13c.*52G>A (n.*52G>A)
c.687G>A
dbSNP gnomAD v3 gnomAD v4
11g.116748431G>ACA601817603BUD13c.*51C>T (n.*51C>T)
c.686C>T
dbSNP gnomAD v2 gnomAD v4
11g.116748431G=CA2002705818BUD13c.*51C= (n.*51C=)
c.686C=
11g.116748431G>TCA2616107693BUD13c.*51C>A (n.*51C>A)
c.686C>A
gnomAD v4
11g.116748432C>TCA2574985821BUD13c.*50G>A (n.*50G>A)
c.685G>A
gnomAD v4
11g.116748434G>ACA2002705821BUD13c.*48C>T (n.*48C>T)
c.683C>T
dbSNP
11g.116748434G=CA2002705820BUD13c.*48C= (n.*48C=)
c.683C=
11g.116748434G>TCA2616107694BUD13c.*48C>A (n.*48C>A)
c.683C>A
gnomAD v4
11g.116748435C>GCA2616107695BUD13c.*47G>C (n.*47G>C)
c.682G>C
gnomAD v4
11g.116748435C>TCA2616107696BUD13c.*47G>A (n.*47G>A)
c.682G>A
gnomAD v4
11g.116748436C>GCA2616107697BUD13c.*46G>C (n.*46G>C)
c.681G>C
gnomAD v4
11g.116748438A=CA2002705823BUD13c.*44T= (n.*44T=)
c.679T=
11g.116748438A>GCA6287859BUD13c.*44T>C (n.*44T>C)
c.679T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748439T>CCA6287860BUD13c.*43A>G (n.*43A>G)
c.678A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748439T=CA2002705825BUD13c.*43A= (n.*43A=)
c.678A=
11g.116748440G>TCA2574985822BUD13c.*42C>A (n.*42C>A)
c.677C>A
gnomAD v4
11g.116748441C>ACA6287861BUD13c.*41G>T (n.*41G>T)
c.676G>T
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748441C=CA2002705826BUD13c.*41G= (n.*41G=)
c.676G=
11g.116748441C>TCA2616107698BUD13c.*41G>A (n.*41G>A)
c.676G>A
gnomAD v4
11g.116748442C>GCA2574985823BUD13c.*40G>C (n.*40G>C)
c.675G>C
11g.116748446_116748462dupCA2616107699BUD13c.*24_*40dup (n.*24_*40dup)
c.659_675dup
gnomAD v4
11g.116748444A>CCA2616107700BUD13c.*38T>G (n.*38T>G)
c.673T>G
gnomAD v4
11g.116748445C=CA2002705828BUD13c.*37G= (n.*37G=)
c.672G=
11g.116748445C>GCA942594189BUD13c.*37G>C (n.*37G>C)
c.672G>C
dbSNP gnomAD v3 gnomAD v4
11g.116748445C>TCA2616107701BUD13c.*37G>A (n.*37G>A)
c.672G>A
gnomAD v4
11g.116748447_116748463dupCA2616107702BUD13c.*19_*35dup (n.*19_*35dup)
c.654_670dup
gnomAD v4
11g.116748448C>TCA2616107704BUD13c.*34G>A (n.*34G>A)
c.669G>A
gnomAD v4
11g.116748456_116748472delCA2616107703BUD13c.*18_*34del (n.*18_*34del)
c.653_669del
gnomAD v4
11g.116748449C>ACA2616107705BUD13c.*33G>T (n.*33G>T)
c.668G>T
gnomAD v4
11g.116748450A=CA2002705830BUD13c.*32T= (n.*32T=)
c.667T=
11g.116748450A>GCA2002705831BUD13c.*32T>C (n.*32T>C)
c.667T>C
dbSNP gnomAD v4
11g.116748451C>TCA2616107706BUD13c.*31G>A (n.*31G>A)
c.666G>A
gnomAD v4
11g.116748452A=CA2002705837BUD13c.*30T= (n.*30T=)
c.665T=
11g.116748452A>GCA672225402BUD13c.*30T>C (n.*30T>C)
c.665T>C
dbSNP gnomAD v3 gnomAD v4
11g.116748453G>TCA2616107707BUD13c.*29C>A (n.*29C>A)
c.664C>A
gnomAD v4
11g.116748454C=CA2002705843BUD13c.*28G= (n.*28G=)
c.663G=
11g.116748454C>TCA6287862BUD13c.*28G>A (n.*28G>A)
c.663G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748456C>TCA2616107708BUD13c.*26G>A (n.*26G>A)
c.661G>A
gnomAD v4
11g.116748457A=CA2002705846BUD13c.*25T= (n.*25T=)
c.660T=
11g.116748457A>GCA6287863BUD13c.*25T>C (n.*25T>C)
c.660T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748458G>ACA2616107709BUD13c.*24C>T (n.*24C>T)
c.659C>T
gnomAD v4
11g.116748459C>ACA2616107710BUD13c.*23G>T (n.*23G>T)
c.658G>T
gnomAD v4
11g.116748459C=CA2002705855BUD13c.*23G= (n.*23G=)
c.658G=
11g.116748459C>TCA672225404BUD13c.*23G>A (n.*23G>A)
c.658G>A
dbSNP gnomAD v4
11g.116748461_116748462delinsACCA2002705859BUD13c.*20_*21delinsGT (n.*20_*21delinsGT)
c.655_656delinsGT
11g.116748462C>ACA672225409BUD13c.*20G>T (n.*20G>T)
c.655G>T
dbSNP gnomAD v3 gnomAD v4
11g.116748462C=CA2002705866BUD13c.*20G= (n.*20G=)
c.655G=
11g.116748462C>TCA6287865BUD13c.*20G>A (n.*20G>A)
c.655G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748466dupCA2793763198BUD13c.*20dup (n.*20dup)
c.655dup
11g.116748466delCA6287864BUD13c.*20del (n.*20del)
c.655del
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748463C>ACA2574985824BUD13c.*19G>T (n.*19G>T)
c.654G>T
11g.116748463C>TCA2616107711BUD13c.*19G>A (n.*19G>A)
c.654G>A
gnomAD v4
11g.116748464C>ACA2616107712BUD13c.*18G>T (n.*18G>T)
c.653G>T
gnomAD v4
11g.116748464C=CA2002705871BUD13c.*18G= (n.*18G=)
c.653G=
11g.116748464C>GCA6287866BUD13c.*18G>C (n.*18G>C)
c.653G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748465C=CA2002705876BUD13c.*17G= (n.*17G=)
c.652G=
11g.116748465C>GCA229293962BUD13c.*17G>C (n.*17G>C)
c.652G>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116748466C=CA2002705881BUD13c.*16G= (n.*16G=)
c.651G=
11g.116748466C>GCA6287868BUD13c.*16G>C (n.*16G>C)
c.651G>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748466C>TCA6287867BUD13c.*16G>A (n.*16G>A)
c.651G>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748467A>GCA2616107713BUD13c.*15T>C (n.*15T>C)
c.650T>C
gnomAD v4
11g.116748468C=CA2002705886BUD13c.*14G= (n.*14G=)
c.649G=
11g.116748468C>TCA601817643BUD13c.*14G>A (n.*14G>A)
c.649G>A
dbSNP gnomAD v2 gnomAD v4
11g.116748469A=CA2002705893BUD13c.*13T= (n.*13T=)
c.648T=
11g.116748469A>GCA2616107714BUD13c.*13T>C (n.*13T>C)
c.648T>C
gnomAD v4
11g.116748469A>TCA672225416BUD13c.*13T>A (n.*13T>A)
c.648T>A
dbSNP gnomAD v3 gnomAD v4
11g.116748470G>ACA2616107715BUD13c.*12C>T (n.*12C>T)
c.647C>T
gnomAD v4
11g.116748470G>CCA2002705897BUD13c.*12C>G (n.*12C>G)
c.647C>G
dbSNP
11g.116748470G=CA2002705896BUD13c.*12C= (n.*12C=)
c.647C=
11g.116748472C=CA2002705901BUD13c.*10G= (n.*10G=)
c.645G=
11g.116748472C>GCA601817644BUD13c.*10G>C (n.*10G>C)
c.645G>C
dbSNP gnomAD v2 gnomAD v4
11g.116748474C>TCA2616107716BUD13c.*8G>A (n.*8G>A)
c.643G>A
gnomAD v4
11g.116748476G>ACA601817645BUD13c.*6C>T (n.*6C>T)
c.641C>T
dbSNP gnomAD v2 gnomAD v4
11g.116748476G=CA2002705904BUD13c.*6C= (n.*6C=)
c.641C=
11g.116748477G>ACA2574985825BUD13c.*5C>T (n.*5C>T)
c.640C>T
gnomAD v4
11g.116748477G>CCA2616107717BUD13c.*5C>G (n.*5C>G)
c.640C>G
gnomAD v4
11g.116748478A=CA2002705908BUD13c.*4T= (n.*4T=)
c.639T=
11g.116748478A>GCA2002705910BUD13c.*4T>C (n.*4T>C)
c.639T>C
dbSNP
11g.116748480delCA2522289523BUD13c.*4del (n.*4del)
c.639del
11g.116748480A=CA2002705914BUD13c.*2T= (n.*2T=)
c.637T=
11g.116748480A>CCA2793763199BUD13c.*2T>G (n.*2T>G)
c.637T>G
11g.116748480A>TCA601817647BUD13c.*2T>A (n.*2T>A)
c.637T>A
dbSNP gnomAD v2 gnomAD v4
11g.116748482T>ACA382695047BUD13c.1860A>T (p.Ter620Tyr)
c.1458A>T (p.Ter486Tyr)
c.635A>T
c.1761A>T (p.Ter587Tyr)
11g.116748482T>CCA476866898BUD13c.1860A>G (p.Ter620=)
c.1458A>G (p.Ter486=)
c.635A>G
c.1761A>G (p.Ter587=)
11g.116748482T>GCA382695048BUD13c.1860A>C (p.Ter620Tyr)
c.1458A>C (p.Ter486Tyr)
c.635A>C
c.1761A>C (p.Ter587Tyr)
COSMIC
11g.116748483T>ACA382695049BUD13c.1859A>T (p.Ter620Leu)
c.1457A>T (p.Ter486Leu)
c.634A>T
c.1760A>T (p.Ter587Leu)
11g.116748483T>CCA476866899BUD13c.1859A>G (p.Ter620=)
c.1457A>G (p.Ter486=)
c.634A>G
c.1760A>G (p.Ter587=)
dbSNP gnomAD v3 gnomAD v4
11g.116748483T>GCA382695050BUD13c.1859A>C (p.Ter620Ser)
c.1457A>C (p.Ter486Ser)
c.634A>C
c.1760A>C (p.Ter587Ser)
11g.116748483T=CA2002705920BUD13c.1859A= (p.Ter620=)
c.1457A= (p.Ter486=)
c.634A=
c.1760A= (p.Ter587=)
11g.116748484A>CCA382695053BUD13c.1858T>G (p.Ter620Glu)
c.1456T>G (p.Ter486Glu)
c.633T>G
c.1759T>G (p.Ter587Glu)
11g.116748484A>GCA382695051BUD13c.1858T>C (p.Ter620Gln)
c.1456T>C (p.Ter486Gln)
c.633T>C
c.1759T>C (p.Ter587Gln)
11g.116748484A>TCA382695052BUD13c.1858T>A (p.Ter620Lys)
c.1456T>A (p.Ter486Lys)
c.633T>A
c.1759T>A (p.Ter587Lys)
11g.116748484dupCA2574985826BUD13c.1858dup (p.Ter620LeuextTer24)
c.1456dup (p.Ter486LeuextTer24)
c.633dup
c.1759dup (p.Ter587LeuextTer24)
11g.116748485C>ACA382695054BUD13c.1857G>T (p.Met619Ile)
c.1455G>T (p.Met485Ile)
c.632G>T
c.1758G>T (p.Met586Ile)
11g.116748485C=CA2002705929BUD13c.1857G= (p.Met619=)
c.1455G= (p.Met485=)
c.632G=
c.1758G= (p.Met586=)
11g.116748485C>GCA382695055BUD13c.1857G>C (p.Met619Ile)
c.1455G>C (p.Met485Ile)
c.632G>C
c.1758G>C (p.Met586Ile)
11g.116748485C>TCA6287869BUD13c.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
11g.116748486A>CCA382695056BUD13c.1856T>G (p.Met619Arg)
c.1454T>G (p.Met485Arg)
c.631T>G
c.1757T>G (p.Met586Arg)
11g.116748486A>GCA382695057BUD13c.1856T>C (p.Met619Thr)
c.1454T>C (p.Met485Thr)
c.631T>C
c.1757T>C (p.Met586Thr)
11g.116748486A>TCA382695058BUD13c.1856T>A (p.Met619Lys)
c.1454T>A (p.Met485Lys)
c.631T>A
c.1757T>A (p.Met586Lys)
11g.116748487T>ACA382695059BUD13c.1855A>T (p.Met619Leu)
c.1453A>T (p.Met485Leu)
c.630A>T
c.1756A>T (p.Met586Leu)
11g.116748487T>CCA382695060BUD13c.1855A>G (p.Met619Val)
c.1453A>G (p.Met485Val)
c.630A>G
c.1756A>G (p.Met586Val)
11g.116748487T>GCA382695061BUD13c.1855A>C (p.Met619Leu)
c.1453A>C (p.Met485Leu)
c.630A>C
c.1756A>C (p.Met586Leu)
11g.116748488A>CCA382695062BUD13c.1854T>G (p.Asp618Glu)
c.1452T>G (p.Asp484Glu)
c.629T>G
c.1755T>G (p.Asp585Glu)
11g.116748488A>GCA476866900BUD13c.1854T>C (p.Asp618=)
c.1452T>C (p.Asp484=)
c.629T>C
c.1755T>C (p.Asp585=)
11g.116748488A>TCA382695063BUD13c.1854T>A (p.Asp618Glu)
c.1452T>A (p.Asp484Glu)
c.629T>A
c.1755T>A (p.Asp585Glu)
11g.116748489T>ACA382695065BUD13c.1853A>T (p.Asp618Val)
c.1451A>T (p.Asp484Val)
c.628A>T
c.1754A>T (p.Asp585Val)
11g.116748489T>CCA382695066BUD13c.1853A>G (p.Asp618Gly)
c.1451A>G (p.Asp484Gly)
c.628A>G
c.1754A>G (p.Asp585Gly)
dbSNP
11g.116748489T>GCA382695064BUD13c.1853A>C (p.Asp618Ala)
c.1451A>C (p.Asp484Ala)
c.628A>C
c.1754A>C (p.Asp585Ala)
11g.116748489T=CA2002705937BUD13c.1853A= (p.Asp618=)
c.1451A= (p.Asp484=)
c.628A=
c.1754A= (p.Asp585=)
11g.116748490C>ACA382695067BUD13c.1852G>T (p.Asp618Tyr)
c.1450G>T (p.Asp484Tyr)
c.627G>T
c.1753G>T (p.Asp585Tyr)
11g.116748490C>GCA382695068BUD13c.1852G>C (p.Asp618His)
c.1450G>C (p.Asp484His)
c.627G>C
c.1753G>C (p.Asp585His)
11g.116748490C>TCA382695069BUD13c.1852G>A (p.Asp618Asn)
c.1450G>A (p.Asp484Asn)
c.627G>A
c.1753G>A (p.Asp585Asn)
11g.116748491C>ACA382695070BUD13c.1851G>T (p.Glu617Asp)
c.1449G>T (p.Glu483Asp)
c.626G>T
c.1752G>T (p.Glu584Asp)
11g.116748491C=CA2002705949BUD13c.1851G= (p.Glu617=)
c.1449G= (p.Glu483=)
c.626G=
c.1752G= (p.Glu584=)
11g.116748491C>GCA382695071BUD13c.1851G>C (p.Glu617Asp)
c.1449G>C (p.Glu483Asp)
c.626G>C
c.1752G>C (p.Glu584Asp)
11g.116748491C>TCA229293974BUD13c.1851G>A (p.Glu617=)
c.1449G>A (p.Glu483=)
c.626G>A
c.1752G>A (p.Glu584=)
dbSNP gnomAD v3 gnomAD v4
11g.116748492T>ACA382695074BUD13c.1850A>T (p.Glu617Val)
c.1448A>T (p.Glu483Val)
c.625A>T
c.1751A>T (p.Glu584Val)
11g.116748492T>CCA382695073BUD13c.1850A>G (p.Glu617Gly)
c.1448A>G (p.Glu483Gly)
c.625A>G
c.1751A>G (p.Glu584Gly)
11g.116748492T>GCA382695072BUD13c.1850A>C (p.Glu617Ala)
c.1448A>C (p.Glu483Ala)
c.625A>C
c.1751A>C (p.Glu584Ala)
11g.116748493C>ACA382695075BUD13c.1849G>T (p.Glu617Ter)
c.1447G>T (p.Glu483Ter)
c.624G>T
c.1750G>T (p.Glu584Ter)
11g.116748493C=CA2002705964BUD13c.1849G= (p.Glu617=)
c.1447G= (p.Glu483=)
c.624G=
c.1750G= (p.Glu584=)
11g.116748493C>GCA382695076BUD13c.1849G>C (p.Glu617Gln)
c.1447G>C (p.Glu483Gln)
c.624G>C
c.1750G>C (p.Glu584Gln)
11g.116748493C>TCA6287870BUD13c.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
11g.116748494A=CA2002705969BUD13c.1848T= (p.Val616=)
c.1446T= (p.Val482=)
c.623T=
c.1749T= (p.Val583=)
11g.116748494A>CCA476866901BUD13c.1848T>G (p.Val616=)
c.1446T>G (p.Val482=)
c.623T>G
c.1749T>G (p.Val583=)
dbSNP gnomAD v4
11g.116748494A>GCA476866902BUD13c.1848T>C (p.Val616=)
c.1446T>C (p.Val482=)
c.623T>C
c.1749T>C (p.Val583=)
11g.116748494A>TCA476866903BUD13c.1848T>A (p.Val616=)
c.1446T>A (p.Val482=)
c.623T>A
c.1749T>A (p.Val583=)
11g.116748495A>CCA382695077BUD13c.1847T>G (p.Val616Gly)
c.1445T>G (p.Val482Gly)
c.622T>G
c.1748T>G (p.Val583Gly)
11g.116748495A>GCA382695078BUD13c.1847T>C (p.Val616Ala)
c.1445T>C (p.Val482Ala)
c.622T>C
c.1748T>C (p.Val583Ala)
11g.116748495A>TCA382695079BUD13c.1847T>A (p.Val616Asp)
c.1445T>A (p.Val482Asp)
c.622T>A
c.1748T>A (p.Val583Asp)
11g.116748496C>ACA382695080BUD13c.1846G>T (p.Val616Phe)
c.1444G>T (p.Val482Phe)
c.621G>T
c.1747G>T (p.Val583Phe)
11g.116748496C>GCA382695082BUD13c.1846G>C (p.Val616Leu)
c.1444G>C (p.Val482Leu)
c.621G>C
c.1747G>C (p.Val583Leu)
11g.116748496C>TCA382695081BUD13c.1846G>A (p.Val616Ile)
c.1444G>A (p.Val482Ile)
c.621G>A
c.1747G>A (p.Val583Ile)
11g.116748497A=CA2002705972BUD13c.1845T= (p.Ser615=)
c.1443T= (p.Ser481=)
c.620T=
c.1746T= (p.Ser582=)
11g.116748497A>CCA382695083BUD13c.1845T>G (p.Ser615Arg)
c.1443T>G (p.Ser481Arg)
c.620T>G
c.1746T>G (p.Ser582Arg)
11g.116748497A>GCA6287871BUD13c.1845T>C (p.Ser615=)
c.1443T>C (p.Ser481=)
c.620T>C
c.1746T>C (p.Ser582=)
dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748497A>TCA382695084BUD13c.1845T>A (p.Ser615Arg)
c.1443T>A (p.Ser481Arg)
c.620T>A
c.1746T>A (p.Ser582Arg)
11g.116748498C>ACA382695085BUD13c.1844G>T (p.Ser615Ile)
c.1442G>T (p.Ser481Ile)
c.619G>T
c.1745G>T (p.Ser582Ile)
11g.116748498C>GCA382695086BUD13c.1844G>C (p.Ser615Thr)
c.1442G>C (p.Ser481Thr)
c.619G>C
c.1745G>C (p.Ser582Thr)
11g.116748498C>TCA382695087BUD13c.1844G>A (p.Ser615Asn)
c.1442G>A (p.Ser481Asn)
c.619G>A
c.1745G>A (p.Ser582Asn)
COSMIC
11g.116748499T>ACA382695088BUD13c.1843A>T (p.Ser615Cys)
c.1441A>T (p.Ser481Cys)
c.618A>T
c.1744A>T (p.Ser582Cys)
11g.116748499T>CCA382695089BUD13c.1843A>G (p.Ser615Gly)
c.1441A>G (p.Ser481Gly)
c.618A>G
c.1744A>G (p.Ser582Gly)
gnomAD v4
11g.116748499T>GCA382695090BUD13c.1843A>C (p.Ser615Arg)
c.1441A>C (p.Ser481Arg)
c.618A>C
c.1744A>C (p.Ser582Arg)
11g.116748500C>ACA382695091BUD13c.1842G>T (p.Trp614Cys)
c.1440G>T (p.Trp480Cys)
c.617G>T
c.1743G>T (p.Trp581Cys)
11g.116748500C=CA2002705973BUD13c.1842G= (p.Trp614=)
c.1440G= (p.Trp480=)
c.617G=
c.1743G= (p.Trp581=)
11g.116748500C>GCA382695092BUD13c.1842G>C (p.Trp614Cys)
c.1440G>C (p.Trp480Cys)
c.617G>C
c.1743G>C (p.Trp581Cys)
dbSNP
11g.116748500C>TCA382695093BUD13c.1842G>A (p.Trp614Ter)
c.1440G>A (p.Trp480Ter)
c.617G>A
c.1743G>A (p.Trp581Ter)
11g.116748501C>ACA382695096BUD13c.1841G>T (p.Trp614Leu)
c.1439G>T (p.Trp480Leu)
c.616G>T
c.1742G>T (p.Trp581Leu)
11g.116748501C>GCA382695095BUD13c.1841G>C (p.Trp614Ser)
c.1439G>C (p.Trp480Ser)
c.616G>C
c.1742G>C (p.Trp581Ser)
11g.116748501C>TCA382695094BUD13c.1841G>A (p.Trp614Ter)
c.1439G>A (p.Trp480Ter)
c.616G>A
c.1742G>A (p.Trp581Ter)
11g.116748502A>CCA382695098BUD13c.1840T>G (p.Trp614Gly)
c.1438T>G (p.Trp480Gly)
c.615T>G
c.1741T>G (p.Trp581Gly)
11g.116748502A>GCA382695097BUD13c.1840T>C (p.Trp614Arg)
c.1438T>C (p.Trp480Arg)
c.615T>C
c.1741T>C (p.Trp581Arg)
11g.116748502A>TCA382695099BUD13c.1840T>A (p.Trp614Arg)
c.1438T>A (p.Trp480Arg)
c.615T>A
c.1741T>A (p.Trp581Arg)
11g.116748503T>ACA382695100BUD13c.1839A>T (p.Lys613Asn)
c.1437A>T (p.Lys479Asn)
c.614A>T
c.1740A>T (p.Lys580Asn)
11g.116748503T>CCA476866904BUD13c.1839A>G (p.Lys613=)
c.1437A>G (p.Lys479=)
c.614A>G
c.1740A>G (p.Lys580=)
gnomAD v4
11g.116748503T>GCA382695101BUD13c.1839A>C (p.Lys613Asn)
c.1437A>C (p.Lys479Asn)
c.614A>C
c.1740A>C (p.Lys580Asn)

Number of alleles fetched