Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.116748413_116748464dupCA2793763194BUD13c.*18_*69dup (n.*18_*69dup)
c.653_704dup
11g.116748446_116748462dupCA2616107699BUD13c.*24_*40dup (n.*24_*40dup)
c.659_675dup
 gnomAD v4
11g.116748447_116748463dupCA2616107702BUD13c.*19_*35dup (n.*19_*35dup)
c.654_670dup
 gnomAD v4
11g.116748456_116748472delCA2616107703BUD13c.*18_*34del (n.*18_*34del)
c.653_669del
 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)
11g.116748504T>ACA382695102BUD13c.1838A>T (p.Lys613Ile)
c.1436A>T (p.Lys479Ile)
c.613A>T
c.1739A>T (p.Lys580Ile)
11g.116748504T>CCA382695103BUD13c.1838A>G (p.Lys613Arg)
c.1436A>G (p.Lys479Arg)
c.613A>G
c.1739A>G (p.Lys580Arg)
 gnomAD v4
11g.116748504T>GCA382695104BUD13c.1838A>C (p.Lys613Thr)
c.1436A>C (p.Lys479Thr)
c.613A>C
c.1739A>C (p.Lys580Thr)
11g.116748505T>ACA229294012BUD13c.1837A>T (p.Lys613Ter)
c.1435A>T (p.Lys479Ter)
c.612A>T
c.1738A>T (p.Lys580Ter)
 dbSNP gnomAD v4
11g.116748505T>CCA382695105BUD13c.1837A>G (p.Lys613Glu)
c.1435A>G (p.Lys479Glu)
c.612A>G
c.1738A>G (p.Lys580Glu)
11g.116748505T>GCA382695106BUD13c.1837A>C (p.Lys613Gln)
c.1435A>C (p.Lys479Gln)
c.612A>C
c.1738A>C (p.Lys580Gln)
11g.116748505T=CA2002705975BUD13c.1837A= (p.Lys613=)
c.1435A= (p.Lys479=)
c.612A=
c.1738A= (p.Lys580=)
11g.116748506G>ACA476866905BUD13c.1836C>T (p.Tyr612=)
c.1434C>T (p.Tyr478=)
c.611C>T
c.1737C>T (p.Tyr579=)
11g.116748506G>CCA382695107BUD13c.1836C>G (p.Tyr612Ter)
c.1434C>G (p.Tyr478Ter)
c.611C>G
c.1737C>G (p.Tyr579Ter)
11g.116748506G=CA2002705977BUD13c.1836C= (p.Tyr612=)
c.1434C= (p.Tyr478=)
c.611C=
c.1737C= (p.Tyr579=)
11g.116748506G>TCA382695108BUD13c.1836C>A (p.Tyr612Ter)
c.1434C>A (p.Tyr478Ter)
c.611C>A
c.1737C>A (p.Tyr579Ter)
11g.116748507T>ACA382695109BUD13c.1835A>T (p.Tyr612Phe)
c.1433A>T (p.Tyr478Phe)
c.610A>T
c.1736A>T (p.Tyr579Phe)
11g.116748507T>CCA382695110BUD13c.1835A>G (p.Tyr612Cys)
c.1433A>G (p.Tyr478Cys)
c.610A>G
c.1736A>G (p.Tyr579Cys)
 gnomAD v4
11g.116748507T>GCA382695111BUD13c.1835A>C (p.Tyr612Ser)
c.1433A>C (p.Tyr478Ser)
c.610A>C
c.1736A>C (p.Tyr579Ser)
11g.116748507dupCA2002705982BUD13c.1835dup (p.Tyr612Ter)
c.1433dup (p.Tyr478Ter)
c.610dup
c.1736dup (p.Tyr579Ter)
 dbSNP
11g.116748508A>CCA382695112BUD13c.1834T>G (p.Tyr612Asp)
c.1432T>G (p.Tyr478Asp)
c.609T>G
c.1735T>G (p.Tyr579Asp)
11g.116748508A>GCA382695114BUD13c.1834T>C (p.Tyr612His)
c.1432T>C (p.Tyr478His)
c.609T>C
c.1735T>C (p.Tyr579His)
11g.116748508A>TCA382695113BUD13c.1834T>A (p.Tyr612Asn)
c.1432T>A (p.Tyr478Asn)
c.609T>A
c.1735T>A (p.Tyr579Asn)
11g.116748509G>ACA6287872BUD13c.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
11g.116748509G>CCA476866906BUD13c.1833C>G (p.Ala611=)
c.1431C>G (p.Ala477=)
c.608C>G
c.1734C>G (p.Ala578=)
11g.116748509G=CA2002705985BUD13c.1833C= (p.Ala611=)
c.1431C= (p.Ala477=)
c.608C=
c.1734C= (p.Ala578=)
11g.116748509G>TCA476866907BUD13c.1833C>A (p.Ala611=)
c.1431C>A (p.Ala477=)
c.608C>A
c.1734C>A (p.Ala578=)
11g.116748510G>ACA382695115BUD13c.1832C>T (p.Ala611Val)
c.1430C>T (p.Ala477Val)
c.607C>T
c.1733C>T (p.Ala578Val)
11g.116748510G>CCA382695116BUD13c.1832C>G (p.Ala611Gly)
c.1430C>G (p.Ala477Gly)
c.607C>G
c.1733C>G (p.Ala578Gly)
11g.116748510G>TCA382695117BUD13c.1832C>A (p.Ala611Asp)
c.1430C>A (p.Ala477Asp)
c.607C>A
c.1733C>A (p.Ala578Asp)
11g.116748511C>ACA382695118BUD13c.1831G>T (p.Ala611Ser)
c.1429G>T (p.Ala477Ser)
c.606G>T
c.1732G>T (p.Ala578Ser)
11g.116748511C=CA2002705988BUD13c.1831G= (p.Ala611=)
c.1429G= (p.Ala477=)
c.606G=
c.1732G= (p.Ala578=)
11g.116748511C>GCA382695119BUD13c.1831G>C (p.Ala611Pro)
c.1429G>C (p.Ala477Pro)
c.606G>C
c.1732G>C (p.Ala578Pro)
11g.116748511C>TCA6287873BUD13c.1831G>A (p.Ala611Thr)
c.1429G>A (p.Ala477Thr)
c.606G>A
c.1732G>A (p.Ala578Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748512A>CCA476866908BUD13c.1830T>G (p.Leu610=)
c.1428T>G (p.Leu476=)
c.605T>G
c.1731T>G (p.Leu577=)
11g.116748512A>GCA476866909BUD13c.1830T>C (p.Leu610=)
c.1428T>C (p.Leu476=)
c.605T>C
c.1731T>C (p.Leu577=)
11g.116748512A>TCA476866910BUD13c.1830T>A (p.Leu610=)
c.1428T>A (p.Leu476=)
c.605T>A
c.1731T>A (p.Leu577=)
11g.116748513A>CCA382695120BUD13c.1829T>G (p.Leu610Arg)
c.1427T>G (p.Leu476Arg)
c.604T>G
c.1730T>G (p.Leu577Arg)
11g.116748513A>GCA382695121BUD13c.1829T>C (p.Leu610Pro)
c.1427T>C (p.Leu476Pro)
c.604T>C
c.1730T>C (p.Leu577Pro)
11g.116748513A>TCA382695122BUD13c.1829T>A (p.Leu610His)
c.1427T>A (p.Leu476His)
c.604T>A
c.1730T>A (p.Leu577His)
11g.116748514G>ACA382695124BUD13c.1828C>T (p.Leu610Phe)
c.1426C>T (p.Leu476Phe)
c.603C>T
c.1729C>T (p.Leu577Phe)
 dbSNP
11g.116748514G>CCA382695125BUD13c.1828C>G (p.Leu610Val)
c.1426C>G (p.Leu476Val)
c.603C>G
c.1729C>G (p.Leu577Val)
 dbSNP
11g.116748514G>TCA382695123BUD13c.1828C>A (p.Leu610Ile)
c.1426C>A (p.Leu476Ile)
c.603C>A
c.1729C>A (p.Leu577Ile)
11g.116748515T>ACA382695126BUD13c.1827A>T (p.Glu609Asp)
c.1425A>T (p.Glu475Asp)
c.602A>T
c.1728A>T (p.Glu576Asp)
11g.116748515T>CCA476866911BUD13c.1827A>G (p.Glu609=)
c.1425A>G (p.Glu475=)
c.602A>G
c.1728A>G (p.Glu576=)
11g.116748515T>GCA382695127BUD13c.1827A>C (p.Glu609Asp)
c.1425A>C (p.Glu475Asp)
c.602A>C
c.1728A>C (p.Glu576Asp)
11g.116748516T>ACA382695128BUD13c.1826A>T (p.Glu609Val)
c.1424A>T (p.Glu475Val)
c.601A>T
c.1727A>T (p.Glu576Val)
11g.116748516T>CCA382695129BUD13c.1826A>G (p.Glu609Gly)
c.1424A>G (p.Glu475Gly)
c.601A>G
c.1727A>G (p.Glu576Gly)
11g.116748516T>GCA382695130BUD13c.1826A>C (p.Glu609Ala)
c.1424A>C (p.Glu475Ala)
c.601A>C
c.1727A>C (p.Glu576Ala)
11g.116748517C>ACA382695131BUD13c.1825G>T (p.Glu609Ter)
c.1423G>T (p.Glu475Ter)
c.600G>T
c.1726G>T (p.Glu576Ter)
11g.116748517C>GCA382695132BUD13c.1825G>C (p.Glu609Gln)
c.1423G>C (p.Glu475Gln)
c.600G>C
c.1726G>C (p.Glu576Gln)
11g.116748517C>TCA382695133BUD13c.1825G>A (p.Glu609Lys)
c.1423G>A (p.Glu475Lys)
c.600G>A
c.1726G>A (p.Glu576Lys)
11g.116748518C>ACA382695134BUD13c.1824G>T (p.Glu608Asp)
c.1422G>T (p.Glu474Asp)
c.599G>T
c.1725G>T (p.Glu575Asp)
11g.116748518C=CA2002705994BUD13c.1824G= (p.Glu608=)
c.1422G= (p.Glu474=)
c.599G=
c.1725G= (p.Glu575=)
11g.116748518C>GCA382695135BUD13c.1824G>C (p.Glu608Asp)
c.1422G>C (p.Glu474Asp)
c.599G>C
c.1725G>C (p.Glu575Asp)
11g.116748518C>TCA476866912BUD13c.1824G>A (p.Glu608=)
c.1422G>A (p.Glu474=)
c.599G>A
c.1725G>A (p.Glu575=)
 dbSNP gnomAD v4
11g.116748519T>ACA382695136BUD13c.1823A>T (p.Glu608Val)
c.1421A>T (p.Glu474Val)
c.598A>T
c.1724A>T (p.Glu575Val)
11g.116748519T>CCA382695137BUD13c.1823A>G (p.Glu608Gly)
c.1421A>G (p.Glu474Gly)
c.598A>G
c.1724A>G (p.Glu575Gly)
11g.116748519T>GCA382695138BUD13c.1823A>C (p.Glu608Ala)
c.1421A>C (p.Glu474Ala)
c.598A>C
c.1724A>C (p.Glu575Ala)
11g.116748520C>ACA382695141BUD13c.1822G>T (p.Glu608Ter)
c.1420G>T (p.Glu474Ter)
c.597G>T
c.1723G>T (p.Glu575Ter)
 COSMIC
11g.116748520C>GCA382695140BUD13c.1822G>C (p.Glu608Gln)
c.1420G>C (p.Glu474Gln)
c.597G>C
c.1723G>C (p.Glu575Gln)
11g.116748520C>TCA382695139BUD13c.1822G>A (p.Glu608Lys)
c.1420G>A (p.Glu474Lys)
c.597G>A
c.1723G>A (p.Glu575Lys)
11g.116748521C>ACA476866915BUD13c.1821G>T (p.Val607=)
c.1419G>T (p.Val473=)
c.596G>T
c.1722G>T (p.Val574=)
11g.116748521C>GCA476866914BUD13c.1821G>C (p.Val607=)
c.1419G>C (p.Val473=)
c.596G>C
c.1722G>C (p.Val574=)
11g.116748521C>TCA476866913BUD13c.1821G>A (p.Val607=)
c.1419G>A (p.Val473=)
c.596G>A
c.1722G>A (p.Val574=)
11g.116748522A>CCA382695142BUD13c.1820T>G (p.Val607Gly)
c.1418T>G (p.Val473Gly)
c.595T>G
c.1721T>G (p.Val574Gly)
11g.116748522A>GCA382695143BUD13c.1820T>C (p.Val607Ala)
c.1418T>C (p.Val473Ala)
c.595T>C
c.1721T>C (p.Val574Ala)
11g.116748522A>TCA382695144BUD13c.1820T>A (p.Val607Glu)
c.1418T>A (p.Val473Glu)
c.595T>A
c.1721T>A (p.Val574Glu)
11g.116748523C>ACA382695145BUD13c.1819G>T (p.Val607Leu)
c.1417G>T (p.Val473Leu)
c.594G>T
c.1720G>T (p.Val574Leu)
11g.116748523C>GCA382695146BUD13c.1819G>C (p.Val607Leu)
c.1417G>C (p.Val473Leu)
c.594G>C
c.1720G>C (p.Val574Leu)
11g.116748523C>TCA382695147BUD13c.1819G>A (p.Val607Met)
c.1417G>A (p.Val473Met)
c.594G>A
c.1720G>A (p.Val574Met)
11g.116748524T>ACA476866916BUD13c.1818A>T (p.Ala606=)
c.1416A>T (p.Ala472=)
c.593A>T
c.1719A>T (p.Ala573=)
11g.116748524T>CCA476866917BUD13c.1818A>G (p.Ala606=)
c.1416A>G (p.Ala472=)
c.593A>G
c.1719A>G (p.Ala573=)
11g.116748524T>GCA476866918BUD13c.1818A>C (p.Ala606=)
c.1416A>C (p.Ala472=)
c.593A>C
c.1719A>C (p.Ala573=)
11g.116748525G>ACA382695148BUD13c.1817C>T (p.Ala606Val)
c.1415C>T (p.Ala472Val)
c.592C>T
c.1718C>T (p.Ala573Val)
 gnomAD v4
11g.116748525G>CCA382695149BUD13c.1817C>G (p.Ala606Gly)
c.1415C>G (p.Ala472Gly)
c.592C>G
c.1718C>G (p.Ala573Gly)
11g.116748525G>TCA382695150BUD13c.1817C>A (p.Ala606Glu)
c.1415C>A (p.Ala472Glu)
c.592C>A
c.1718C>A (p.Ala573Glu)
11g.116748526C>ACA382695151BUD13c.1816G>T (p.Ala606Ser)
c.1414G>T (p.Ala472Ser)
c.591G>T
c.1717G>T (p.Ala573Ser)
11g.116748526C>GCA382695152BUD13c.1816G>C (p.Ala606Pro)
c.1414G>C (p.Ala472Pro)
c.591G>C
c.1717G>C (p.Ala573Pro)
11g.116748526C>TCA382695153BUD13c.1816G>A (p.Ala606Thr)
c.1414G>A (p.Ala472Thr)
c.591G>A
c.1717G>A (p.Ala573Thr)
11g.116748527C>ACA382695154BUD13c.1815G>T (p.Lys605Asn)
c.1413G>T (p.Lys471Asn)
c.590G>T
c.1716G>T (p.Lys572Asn)
11g.116748527C=CA2002705999BUD13c.1815G= (p.Lys605=)
c.1413G= (p.Lys471=)
c.590G=
c.1716G= (p.Lys572=)
11g.116748527C>GCA382695155BUD13c.1815G>C (p.Lys605Asn)
c.1413G>C (p.Lys471Asn)
c.590G>C
c.1716G>C (p.Lys572Asn)
11g.116748527C>TCA476866919BUD13c.1815G>A (p.Lys605=)
c.1413G>A (p.Lys471=)
c.590G>A
c.1716G>A (p.Lys572=)
 dbSNP gnomAD v4
11g.116748528T>ACA382695157BUD13c.1814A>T (p.Lys605Met)
c.1412A>T (p.Lys471Met)
c.589A>T
c.1715A>T (p.Lys572Met)
11g.116748528T>CCA382695158BUD13c.1814A>G (p.Lys605Arg)
c.1412A>G (p.Lys471Arg)
c.589A>G
c.1715A>G (p.Lys572Arg)
 dbSNP gnomAD v3 gnomAD v4
11g.116748528T>GCA382695156BUD13c.1814A>C (p.Lys605Thr)
c.1412A>C (p.Lys471Thr)
c.589A>C
c.1715A>C (p.Lys572Thr)
11g.116748528T=CA2002706008BUD13c.1814A= (p.Lys605=)
c.1412A= (p.Lys471=)
c.589A=
c.1715A= (p.Lys572=)
11g.116748529T>ACA382695159BUD13c.1813A>T (p.Lys605Ter)
c.1411A>T (p.Lys471Ter)
c.588A>T
c.1714A>T (p.Lys572Ter)
11g.116748529T>CCA382695161BUD13c.1813A>G (p.Lys605Glu)
c.1411A>G (p.Lys471Glu)
c.588A>G
c.1714A>G (p.Lys572Glu)
11g.116748529T>GCA382695160BUD13c.1813A>C (p.Lys605Gln)
c.1411A>C (p.Lys471Gln)
c.588A>C
c.1714A>C (p.Lys572Gln)
11g.116748530C>ACA382695162BUD13c.1812G>T (p.Lys604Asn)
c.1410G>T (p.Lys470Asn)
c.587G>T
c.1713G>T (p.Lys571Asn)
11g.116748530C>GCA382695163BUD13c.1812G>C (p.Lys604Asn)
c.1410G>C (p.Lys470Asn)
c.587G>C
c.1713G>C (p.Lys571Asn)
11g.116748530C>TCA476866920BUD13c.1812G>A (p.Lys604=)
c.1410G>A (p.Lys470=)
c.587G>A
c.1713G>A (p.Lys571=)
11g.116748531T>ACA382695164BUD13c.1811A>T (p.Lys604Met)
c.1409A>T (p.Lys470Met)
c.586A>T
c.1712A>T (p.Lys571Met)
11g.116748531T>CCA382695165BUD13c.1811A>G (p.Lys604Arg)
c.1409A>G (p.Lys470Arg)
c.586A>G
c.1712A>G (p.Lys571Arg)
11g.116748531T>GCA382695166BUD13c.1811A>C (p.Lys604Thr)
c.1409A>C (p.Lys470Thr)
c.586A>C
c.1712A>C (p.Lys571Thr)
11g.116748532T>ACA382695167BUD13c.1810A>T (p.Lys604Ter)
c.1408A>T (p.Lys470Ter)
c.585A>T
c.1711A>T (p.Lys571Ter)
11g.116748532T>CCA382695168BUD13c.1810A>G (p.Lys604Glu)
c.1408A>G (p.Lys470Glu)
c.585A>G
c.1711A>G (p.Lys571Glu)
11g.116748532T>GCA382695169BUD13c.1810A>C (p.Lys604Gln)
c.1408A>C (p.Lys470Gln)
c.585A>C
c.1711A>C (p.Lys571Gln)
11g.116748533G>ACA476866921BUD13c.1809C>T (p.Ser603=)
c.1407C>T (p.Ser469=)
c.584C>T
c.1710C>T (p.Ser570=)
11g.116748533G>CCA382695170BUD13c.1809C>G (p.Ser603Arg)
c.1407C>G (p.Ser469Arg)
c.584C>G
c.1710C>G (p.Ser570Arg)
11g.116748533G>TCA382695171BUD13c.1809C>A (p.Ser603Arg)
c.1407C>A (p.Ser469Arg)
c.584C>A
c.1710C>A (p.Ser570Arg)
11g.116748534C>ACA382695172BUD13c.1808G>T (p.Ser603Ile)
c.1406G>T (p.Ser469Ile)
c.583G>T
c.1709G>T (p.Ser570Ile)
11g.116748534C>GCA382695173BUD13c.1808G>C (p.Ser603Thr)
c.1406G>C (p.Ser469Thr)
c.583G>C
c.1709G>C (p.Ser570Thr)
11g.116748534C>TCA382695174BUD13c.1808G>A (p.Ser603Asn)
c.1406G>A (p.Ser469Asn)
c.583G>A
c.1709G>A (p.Ser570Asn)
 COSMIC
11g.116748534dupCA2793763201BUD13c.1808dup (p.Ser603ArgfsTer15)
c.1406dup (p.Ser469ArgfsTer15)
c.583dup
c.1709dup (p.Ser570ArgfsTer15)
11g.116748535T>ACA382695175BUD13c.1807A>T (p.Ser603Cys)
c.1405A>T (p.Ser469Cys)
c.582A>T
c.1708A>T (p.Ser570Cys)
11g.116748535T>CCA229294054BUD13c.1807A>G (p.Ser603Gly)
c.1405A>G (p.Ser469Gly)
c.582A>G
c.1708A>G (p.Ser570Gly)
 dbSNP
11g.116748535T>GCA382695176BUD13c.1807A>C (p.Ser603Arg)
c.1405A>C (p.Ser469Arg)
c.582A>C
c.1708A>C (p.Ser570Arg)
11g.116748535T=CA2002706014BUD13c.1807A= (p.Ser603=)
c.1405A= (p.Ser469=)
c.582A=
c.1708A= (p.Ser570=)
11g.116748536G>ACA6287874BUD13c.1806C>T (p.Ala602=)
c.1404C>T (p.Ala468=)
c.581C>T
c.1707C>T (p.Ala569=)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748536G>CCA476866922BUD13c.1806C>G (p.Ala602=)
c.1404C>G (p.Ala468=)
c.581C>G
c.1707C>G (p.Ala569=)
11g.116748536G=CA2002706019BUD13c.1806C= (p.Ala602=)
c.1404C= (p.Ala468=)
c.581C=
c.1707C= (p.Ala569=)
11g.116748536G>TCA476866923BUD13c.1806C>A (p.Ala602=)
c.1404C>A (p.Ala468=)
c.581C>A
c.1707C>A (p.Ala569=)
11g.116748537G>ACA6287875BUD13c.1805C>T (p.Ala602Val)
c.1403C>T (p.Ala468Val)
c.580C>T
c.1706C>T (p.Ala569Val)
 dbSNP ExAC gnomAD v2 COSMIC
11g.116748537G>CCA382695177BUD13c.1805C>G (p.Ala602Gly)
c.1403C>G (p.Ala468Gly)
c.580C>G
c.1706C>G (p.Ala569Gly)
11g.116748537G=CA2002706027BUD13c.1805C= (p.Ala602=)
c.1403C= (p.Ala468=)
c.580C=
c.1706C= (p.Ala569=)
11g.116748537G>TCA382695178BUD13c.1805C>A (p.Ala602Asp)
c.1403C>A (p.Ala468Asp)
c.580C>A
c.1706C>A (p.Ala569Asp)
11g.116748538C>ACA382695179BUD13c.1804G>T (p.Ala602Ser)
c.1402G>T (p.Ala468Ser)
c.579G>T
c.1705G>T (p.Ala569Ser)
11g.116748538C>GCA382695180BUD13c.1804G>C (p.Ala602Pro)
c.1402G>C (p.Ala468Pro)
c.579G>C
c.1705G>C (p.Ala569Pro)
 gnomAD v4
11g.116748538C>TCA382695181BUD13c.1804G>A (p.Ala602Thr)
c.1402G>A (p.Ala468Thr)
c.579G>A
c.1705G>A (p.Ala569Thr)
11g.116748539A>CCA476866924BUD13c.1803T>G (p.Leu601=)
c.1401T>G (p.Leu467=)
c.578T>G
c.1704T>G (p.Leu568=)
11g.116748539A>GCA476866925BUD13c.1803T>C (p.Leu601=)
c.1401T>C (p.Leu467=)
c.578T>C
c.1704T>C (p.Leu568=)
11g.116748539A>TCA476866926BUD13c.1803T>A (p.Leu601=)
c.1401T>A (p.Leu467=)
c.578T>A
c.1704T>A (p.Leu568=)
11g.116748540A>CCA382695182BUD13c.1802T>G (p.Leu601Arg)
c.1400T>G (p.Leu467Arg)
c.577T>G
c.1703T>G (p.Leu568Arg)
 gnomAD v4
11g.116748540A>GCA382695183BUD13c.1802T>C (p.Leu601Pro)
c.1400T>C (p.Leu467Pro)
c.577T>C
c.1703T>C (p.Leu568Pro)
11g.116748540A>TCA382695184BUD13c.1802T>A (p.Leu601His)
c.1400T>A (p.Leu467His)
c.577T>A
c.1703T>A (p.Leu568His)
11g.116748541G>ACA382695187BUD13c.1801C>T (p.Leu601Phe)
c.1399C>T (p.Leu467Phe)
c.576C>T
c.1702C>T (p.Leu568Phe)
11g.116748541G>CCA382695186BUD13c.1801C>G (p.Leu601Val)
c.1399C>G (p.Leu467Val)
c.576C>G
c.1702C>G (p.Leu568Val)
11g.116748541G>TCA382695185BUD13c.1801C>A (p.Leu601Ile)
c.1399C>A (p.Leu467Ile)
c.576C>A
c.1702C>A (p.Leu568Ile)
11g.116748542C>ACA382695189BUD13c.1800G>T (p.Arg600Ser)
c.1398G>T (p.Arg466Ser)
c.575G>T
c.1701G>T (p.Arg567Ser)
11g.116748542C>GCA382695188BUD13c.1800G>C (p.Arg600Ser)
c.1398G>C (p.Arg466Ser)
c.575G>C
c.1701G>C (p.Arg567Ser)
11g.116748542C>TCA476866927BUD13c.1800G>A (p.Arg600=)
c.1398G>A (p.Arg466=)
c.575G>A
c.1701G>A (p.Arg567=)
11g.116748543C>ACA382695190BUD13c.1799G>T (p.Arg600Met)
c.1397G>T (p.Arg466Met)
c.574G>T
c.1700G>T (p.Arg567Met)
11g.116748543C>GCA382695191BUD13c.1799G>C (p.Arg600Thr)
c.1397G>C (p.Arg466Thr)
c.574G>C
c.1700G>C (p.Arg567Thr)
11g.116748543C>TCA382695192BUD13c.1799G>A (p.Arg600Lys)
c.1397G>A (p.Arg466Lys)
c.574G>A
c.1700G>A (p.Arg567Lys)
11g.116748544T>ACA382695193BUD13c.1798A>T (p.Arg600Trp)
c.1396A>T (p.Arg466Trp)
c.573A>T
c.1699A>T (p.Arg567Trp)
 dbSNP
11g.116748544T>CCA382695194BUD13c.1798A>G (p.Arg600Gly)
c.1396A>G (p.Arg466Gly)
c.573A>G
c.1699A>G (p.Arg567Gly)
11g.116748544T>GCA476866928BUD13c.1798A>C (p.Arg600=)
c.1396A>C (p.Arg466=)
c.573A>C
c.1699A>C (p.Arg567=)
11g.116748545G>ACA476866929BUD13c.1797C>T (p.Ala599=)
c.1395C>T (p.Ala465=)
c.572C>T
c.1698C>T (p.Ala566=)
11g.116748545G>CCA476866930BUD13c.1797C>G (p.Ala599=)
c.1395C>G (p.Ala465=)
c.572C>G
c.1698C>G (p.Ala566=)
11g.116748545G>TCA476866931BUD13c.1797C>A (p.Ala599=)
c.1395C>A (p.Ala465=)
c.572C>A
c.1698C>A (p.Ala566=)
11g.116748546G>ACA382695197BUD13c.1796C>T (p.Ala599Val)
c.1394C>T (p.Ala465Val)
c.571C>T
c.1697C>T (p.Ala566Val)
11g.116748546G>CCA382695195BUD13c.1796C>G (p.Ala599Gly)
c.1394C>G (p.Ala465Gly)
c.571C>G
c.1697C>G (p.Ala566Gly)
11g.116748546G>TCA382695196BUD13c.1796C>A (p.Ala599Asp)
c.1394C>A (p.Ala465Asp)
c.571C>A
c.1697C>A (p.Ala566Asp)
11g.116748547C>ACA382695198BUD13c.1795G>T (p.Ala599Ser)
c.1393G>T (p.Ala465Ser)
c.570G>T
c.1696G>T (p.Ala566Ser)
11g.116748547C>GCA382695199BUD13c.1795G>C (p.Ala599Pro)
c.1393G>C (p.Ala465Pro)
c.570G>C
c.1696G>C (p.Ala566Pro)
11g.116748547C>TCA382695200BUD13c.1795G>A (p.Ala599Thr)
c.1393G>A (p.Ala465Thr)
c.570G>A
c.1696G>A (p.Ala566Thr)
11g.116748548A>CCA382695201BUD13c.1794T>G (p.Phe598Leu)
c.1392T>G (p.Phe464Leu)
c.569T>G
c.1695T>G (p.Phe565Leu)
11g.116748548A>GCA476866932BUD13c.1794T>C (p.Phe598=)
c.1392T>C (p.Phe464=)
c.569T>C
c.1695T>C (p.Phe565=)
11g.116748548A>TCA382695202BUD13c.1794T>A (p.Phe598Leu)
c.1392T>A (p.Phe464Leu)
c.569T>A
c.1695T>A (p.Phe565Leu)
11g.116748549A>CCA382695203BUD13c.1793T>G (p.Phe598Cys)
c.1391T>G (p.Phe464Cys)
c.568T>G
c.1694T>G (p.Phe565Cys)
11g.116748549A>GCA382695205BUD13c.1793T>C (p.Phe598Ser)
c.1391T>C (p.Phe464Ser)
c.568T>C
c.1694T>C (p.Phe565Ser)
11g.116748549A>TCA382695204BUD13c.1793T>A (p.Phe598Tyr)
c.1391T>A (p.Phe464Tyr)
c.568T>A
c.1694T>A (p.Phe565Tyr)
11g.116748550A=CA2002706030BUD13c.1792T= (p.Phe598=)
c.1390T= (p.Phe464=)
c.567T=
c.1693T= (p.Phe565=)
11g.116748550A>CCA382695206BUD13c.1792T>G (p.Phe598Val)
c.1390T>G (p.Phe464Val)
c.567T>G
c.1693T>G (p.Phe565Val)
11g.116748550A>GCA382695207BUD13c.1792T>C (p.Phe598Leu)
c.1390T>C (p.Phe464Leu)
c.567T>C
c.1693T>C (p.Phe565Leu)
 dbSNP
11g.116748550A>TCA382695208BUD13c.1792T>A (p.Phe598Ile)
c.1390T>A (p.Phe464Ile)
c.567T>A
c.1693T>A (p.Phe565Ile)
11g.116748551G>ACA476866933BUD13c.1791C>T (p.Arg597=)
c.1389C>T (p.Arg463=)
c.566C>T
c.1692C>T (p.Arg564=)
11g.116748551G>CCA476866934BUD13c.1791C>G (p.Arg597=)
c.1389C>G (p.Arg463=)
c.566C>G
c.1692C>G (p.Arg564=)
11g.116748551G>TCA476866935BUD13c.1791C>A (p.Arg597=)
c.1389C>A (p.Arg463=)
c.566C>A
c.1692C>A (p.Arg564=)
11g.116748552C>ACA382695209BUD13c.1790G>T (p.Arg597Leu)
c.1388G>T (p.Arg463Leu)
c.565G>T
c.1691G>T (p.Arg564Leu)
11g.116748552C=CA2002706034BUD13c.1790G= (p.Arg597=)
c.1388G= (p.Arg463=)
c.565G=
c.1691G= (p.Arg564=)
11g.116748552C>GCA382695210BUD13c.1790G>C (p.Arg597Pro)
c.1388G>C (p.Arg463Pro)
c.565G>C
c.1691G>C (p.Arg564Pro)
11g.116748552C>TCA6287876BUD13c.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
11g.116748553G>ACA6287877BUD13c.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
11g.116748553G>CCA382695211BUD13c.1789C>G (p.Arg597Gly)
c.1387C>G (p.Arg463Gly)
c.564C>G
c.1690C>G (p.Arg564Gly)
11g.116748553G=CA2002706041BUD13c.1789C= (p.Arg597=)
c.1387C= (p.Arg463=)
c.564C=
c.1690C= (p.Arg564=)
11g.116748553G>TCA382695212BUD13c.1789C>A (p.Arg597Ser)
c.1387C>A (p.Arg463Ser)
c.564C>A
c.1690C>A (p.Arg564Ser)
11g.116748554C>ACA382695213BUD13c.1788G>T (p.Lys596Asn)
c.1386G>T (p.Lys462Asn)
c.563G>T
c.1689G>T (p.Lys563Asn)
11g.116748554C>GCA382695214BUD13c.1788G>C (p.Lys596Asn)
c.1386G>C (p.Lys462Asn)
c.563G>C
c.1689G>C (p.Lys563Asn)
11g.116748554C>TCA476866936BUD13c.1788G>A (p.Lys596=)
c.1386G>A (p.Lys462=)
c.563G>A
c.1689G>A (p.Lys563=)
11g.116748555T>ACA382695216BUD13c.1787A>T (p.Lys596Met)
c.1385A>T (p.Lys462Met)
c.562A>T
c.1688A>T (p.Lys563Met)
11g.116748555T>CCA382695217BUD13c.1787A>G (p.Lys596Arg)
c.1385A>G (p.Lys462Arg)
c.562A>G
c.1688A>G (p.Lys563Arg)
11g.116748555T>GCA382695215BUD13c.1787A>C (p.Lys596Thr)
c.1385A>C (p.Lys462Thr)
c.562A>C
c.1688A>C (p.Lys563Thr)
11g.116748556delCA2616107718BUD13c.1787del (p.Lys596SerfsTer?)
c.1385del (p.Lys462SerfsTer?)
c.562del
c.1688del (p.Lys563SerfsTer?)
 gnomAD v4
11g.116748556T>ACA382695218BUD13c.1786A>T (p.Lys596Ter)
c.1384A>T (p.Lys462Ter)
c.561A>T
c.1687A>T (p.Lys563Ter)
11g.116748556T>CCA382695220BUD13c.1786A>G (p.Lys596Glu)
c.1384A>G (p.Lys462Glu)
c.561A>G
c.1687A>G (p.Lys563Glu)
11g.116748556T>GCA382695219BUD13c.1786A>C (p.Lys596Gln)
c.1384A>C (p.Lys462Gln)
c.561A>C
c.1687A>C (p.Lys563Gln)

Number of alleles fetched