Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
11g.116748557C>ACA382695221BUD13c.1785G>T (p.Gln595His)
c.1383G>T (p.Gln461His)
c.560G>T
c.1686G>T (p.Gln562His)
11g.116748557C>GCA382695222BUD13c.1785G>C (p.Gln595His)
c.1383G>C (p.Gln461His)
c.560G>C
c.1686G>C (p.Gln562His)
11g.116748557C>TCA476866937BUD13c.1785G>A (p.Gln595=)
c.1383G>A (p.Gln461=)
c.560G>A
c.1686G>A (p.Gln562=)
11g.116748558T>ACA382695223BUD13c.1784A>T (p.Gln595Leu)
c.1382A>T (p.Gln461Leu)
c.559A>T
c.1685A>T (p.Gln562Leu)
11g.116748558T>CCA382695224BUD13c.1784A>G (p.Gln595Arg)
c.1382A>G (p.Gln461Arg)
c.559A>G
c.1685A>G (p.Gln562Arg)
 gnomAD v4
11g.116748558T>GCA382695225BUD13c.1784A>C (p.Gln595Pro)
c.1382A>C (p.Gln461Pro)
c.559A>C
c.1685A>C (p.Gln562Pro)
11g.116748559G>ACA382695226BUD13c.1783C>T (p.Gln595Ter)
c.1381C>T (p.Gln461Ter)
c.558C>T
c.1684C>T (p.Gln562Ter)
11g.116748559G>CCA382695227BUD13c.1783C>G (p.Gln595Glu)
c.1381C>G (p.Gln461Glu)
c.558C>G
c.1684C>G (p.Gln562Glu)
 gnomAD v4
11g.116748559G>TCA382695228BUD13c.1783C>A (p.Gln595Lys)
c.1381C>A (p.Gln461Lys)
c.558C>A
c.1684C>A (p.Gln562Lys)
 COSMIC
11g.116748560T>ACA382695229BUD13c.1782A>T (p.Glu594Asp)
c.1380A>T (p.Glu460Asp)
c.557A>T
c.1683A>T (p.Glu561Asp)
11g.116748560T>CCA476866938BUD13c.1782A>G (p.Glu594=)
c.1380A>G (p.Glu460=)
c.557A>G
c.1683A>G (p.Glu561=)
11g.116748560T>GCA382695230BUD13c.1782A>C (p.Glu594Asp)
c.1380A>C (p.Glu460Asp)
c.557A>C
c.1683A>C (p.Glu561Asp)
11g.116748561T>ACA382695233BUD13c.1781A>T (p.Glu594Val)
c.1379A>T (p.Glu460Val)
c.556A>T
c.1682A>T (p.Glu561Val)
11g.116748561T>CCA382695232BUD13c.1781A>G (p.Glu594Gly)
c.1379A>G (p.Glu460Gly)
c.556A>G
c.1682A>G (p.Glu561Gly)
11g.116748561T>GCA382695231BUD13c.1781A>C (p.Glu594Ala)
c.1379A>C (p.Glu460Ala)
c.556A>C
c.1682A>C (p.Glu561Ala)
11g.116748562C>ACA382695234BUD13c.1780G>T (p.Glu594Ter)
c.1378G>T (p.Glu460Ter)
c.555G>T
c.1681G>T (p.Glu561Ter)
11g.116748562C>GCA382695235BUD13c.1780G>C (p.Glu594Gln)
c.1378G>C (p.Glu460Gln)
c.555G>C
c.1681G>C (p.Glu561Gln)
11g.116748562C>TCA382695236BUD13c.1780G>A (p.Glu594Lys)
c.1378G>A (p.Glu460Lys)
c.555G>A
c.1681G>A (p.Glu561Lys)
11g.116748563A>CCA382695237BUD13c.1779T>G (p.Phe593Leu)
c.1377T>G (p.Phe459Leu)
c.554T>G
c.1680T>G (p.Phe560Leu)
11g.116748563A>GCA476866939BUD13c.1779T>C (p.Phe593=)
c.1377T>C (p.Phe459=)
c.554T>C
c.1680T>C (p.Phe560=)
11g.116748563A>TCA382695238BUD13c.1779T>A (p.Phe593Leu)
c.1377T>A (p.Phe459Leu)
c.554T>A
c.1680T>A (p.Phe560Leu)
11g.116748564A>CCA382695239BUD13c.1778T>G (p.Phe593Cys)
c.1376T>G (p.Phe459Cys)
c.553T>G
c.1679T>G (p.Phe560Cys)
11g.116748564A>GCA382695240BUD13c.1778T>C (p.Phe593Ser)
c.1376T>C (p.Phe459Ser)
c.553T>C
c.1679T>C (p.Phe560Ser)
11g.116748564A>TCA382695241BUD13c.1778T>A (p.Phe593Tyr)
c.1376T>A (p.Phe459Tyr)
c.553T>A
c.1679T>A (p.Phe560Tyr)
11g.116748565A>CCA382695242BUD13c.1777T>G (p.Phe593Val)
c.1375T>G (p.Phe459Val)
c.552T>G
c.1678T>G (p.Phe560Val)
11g.116748565A>GCA382695243BUD13c.1777T>C (p.Phe593Leu)
c.1375T>C (p.Phe459Leu)
c.552T>C
c.1678T>C (p.Phe560Leu)
11g.116748565A>TCA382695244BUD13c.1777T>A (p.Phe593Ile)
c.1375T>A (p.Phe459Ile)
c.552T>A
c.1678T>A (p.Phe560Ile)
11g.116748566T>ACA476866940BUD13c.1776A>T (p.Gly592=)
c.1374A>T (p.Gly458=)
c.551A>T
c.1677A>T (p.Gly559=)
11g.116748566T>CCA476866941BUD13c.1776A>G (p.Gly592=)
c.1374A>G (p.Gly458=)
c.551A>G
c.1677A>G (p.Gly559=)
11g.116748566T>GCA476866942BUD13c.1776A>C (p.Gly592=)
c.1374A>C (p.Gly458=)
c.551A>C
c.1677A>C (p.Gly559=)
11g.116748567C>ACA382695246BUD13c.1775G>T (p.Gly592Val)
c.1373G>T (p.Gly458Val)
c.550G>T
c.1676G>T (p.Gly559Val)
 dbSNP gnomAD v2 gnomAD v4
11g.116748567C=CA2002706044BUD13c.1775G= (p.Gly592=)
c.1373G= (p.Gly458=)
c.550G=
c.1676G= (p.Gly559=)
11g.116748567C>GCA382695247BUD13c.1775G>C (p.Gly592Ala)
c.1373G>C (p.Gly458Ala)
c.550G>C
c.1676G>C (p.Gly559Ala)
11g.116748567C>TCA382695245BUD13c.1775G>A (p.Gly592Glu)
c.1373G>A (p.Gly458Glu)
c.550G>A
c.1676G>A (p.Gly559Glu)
11g.116748568C>ACA382695248BUD13c.1774G>T (p.Gly592Ter)
c.1372G>T (p.Gly458Ter)
c.549G>T
c.1675G>T (p.Gly559Ter)
11g.116748568C>GCA382695249BUD13c.1774G>C (p.Gly592Arg)
c.1372G>C (p.Gly458Arg)
c.549G>C
c.1675G>C (p.Gly559Arg)
11g.116748568C>TCA382695250BUD13c.1774G>A (p.Gly592Arg)
c.1372G>A (p.Gly458Arg)
c.549G>A
c.1675G>A (p.Gly559Arg)
11g.116748569A=CA2002706051BUD13c.1773T= (p.Asn591=)
c.1371T= (p.Asn457=)
c.548T=
c.1674T= (p.Asn558=)
11g.116748569A>CCA382695251BUD13c.1773T>G (p.Asn591Lys)
c.1371T>G (p.Asn457Lys)
c.548T>G
c.1674T>G (p.Asn558Lys)
11g.116748569A>GCA476866943BUD13c.1773T>C (p.Asn591=)
c.1371T>C (p.Asn457=)
c.548T>C
c.1674T>C (p.Asn558=)
 dbSNP gnomAD v2 gnomAD v4
11g.116748569A>TCA382695252BUD13c.1773T>A (p.Asn591Lys)
c.1371T>A (p.Asn457Lys)
c.548T>A
c.1674T>A (p.Asn558Lys)
11g.116748570T>ACA382695254BUD13c.1772A>T (p.Asn591Ile)
c.1370A>T (p.Asn457Ile)
c.547A>T
c.1673A>T (p.Asn558Ile)
 dbSNP
11g.116748570T>CCA6287878BUD13c.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
11g.116748570T>GCA382695253BUD13c.1772A>C (p.Asn591Thr)
c.1370A>C (p.Asn457Thr)
c.547A>C
c.1673A>C (p.Asn558Thr)
11g.116748570T=CA2002706054BUD13c.1772A= (p.Asn591=)
c.1370A= (p.Asn457=)
c.547A=
c.1673A= (p.Asn558=)
11g.116748571T>ACA382695255BUD13c.1771A>T (p.Asn591Tyr)
c.1369A>T (p.Asn457Tyr)
c.546A>T
c.1672A>T (p.Asn558Tyr)
11g.116748571T>CCA382695256BUD13c.1771A>G (p.Asn591Asp)
c.1369A>G (p.Asn457Asp)
c.546A>G
c.1672A>G (p.Asn558Asp)
11g.116748571T>GCA382695257BUD13c.1771A>C (p.Asn591His)
c.1369A>C (p.Asn457His)
c.546A>C
c.1672A>C (p.Asn558His)
11g.116748572G>ACA476866944BUD13c.1770C>T (p.Ser590=)
c.1368C>T (p.Ser456=)
c.545C>T
c.1671C>T (p.Ser557=)
 dbSNP gnomAD v2 gnomAD v4
11g.116748572G>CCA476866945BUD13c.1770C>G (p.Ser590=)
c.1368C>G (p.Ser456=)
c.545C>G
c.1671C>G (p.Ser557=)
 COSMIC
11g.116748572G=CA2002706059BUD13c.1770C= (p.Ser590=)
c.1368C= (p.Ser456=)
c.545C=
c.1671C= (p.Ser557=)
11g.116748572G>TCA476866946BUD13c.1770C>A (p.Ser590=)
c.1368C>A (p.Ser456=)
c.545C>A
c.1671C>A (p.Ser557=)
11g.116748573G>ACA382695258BUD13c.1769C>T (p.Ser590Phe)
c.1367C>T (p.Ser456Phe)
c.544C>T
c.1670C>T (p.Ser557Phe)
11g.116748573G>CCA382695259BUD13c.1769C>G (p.Ser590Cys)
c.1367C>G (p.Ser456Cys)
c.544C>G
c.1670C>G (p.Ser557Cys)
11g.116748573G>TCA382695260BUD13c.1769C>A (p.Ser590Tyr)
c.1367C>A (p.Ser456Tyr)
c.544C>A
c.1670C>A (p.Ser557Tyr)
11g.116748574A>CCA382695261BUD13c.1768T>G (p.Ser590Ala)
c.1366T>G (p.Ser456Ala)
c.543T>G
c.1669T>G (p.Ser557Ala)
11g.116748574A>GCA382695263BUD13c.1768T>C (p.Ser590Pro)
c.1366T>C (p.Ser456Pro)
c.543T>C
c.1669T>C (p.Ser557Pro)
11g.116748574A>TCA382695262BUD13c.1768T>A (p.Ser590Thr)
c.1366T>A (p.Ser456Thr)
c.543T>A
c.1669T>A (p.Ser557Thr)
11g.116748575T>ACA382695264BUD13c.1767A>T (p.Arg589Ser)
c.1365A>T (p.Arg455Ser)
c.542A>T
c.1668A>T (p.Arg556Ser)
11g.116748575T>CCA476866947BUD13c.1767A>G (p.Arg589=)
c.1365A>G (p.Arg455=)
c.542A>G
c.1668A>G (p.Arg556=)
11g.116748575T>GCA382695265BUD13c.1767A>C (p.Arg589Ser)
c.1365A>C (p.Arg455Ser)
c.542A>C
c.1668A>C (p.Arg556Ser)
11g.116748576C>ACA382695266BUD13c.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)
11g.116748576C=CA2002706064BUD13c.1767-1G= (n.1767-1G=)
c.1365-1G= (n.1365-1G=)
c.542-1G=
c.1668-1G= (n.1668-1G=)
11g.116748576C>GCA382695267BUD13c.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
11g.116748576C>TCA382695268BUD13c.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
11g.116748577T>ACA382695269BUD13c.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)
11g.116748577T>CCA382695270BUD13c.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)
11g.116748577T>GCA382695271BUD13c.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)
11g.116748579C>TCA2616107719BUD13c.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
11g.116748580A=CA2002706069BUD13c.1767-5T= (n.1767-5T=)
c.1365-5T= (n.1365-5T=)
c.542-5T=
c.1668-5T= (n.1668-5T=)
11g.116748580A>GCA6287879BUD13c.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
11g.116748581A>GCA2616107720BUD13c.1767-6T>C (n.1767-6T>C)
c.1365-6T>C (n.1365-6T>C)
c.542-6T>C
c.1668-6T>C (n.1668-6T>C)
 gnomAD v4
11g.116748582T>CCA2793763202BUD13c.1767-7A>G (n.1767-7A>G)
c.1365-7A>G (n.1365-7A>G)
c.542-7A>G
c.1668-7A>G (n.1668-7A>G)
11g.116748583C>ACA2616107721BUD13c.1767-8G>T (n.1767-8G>T)
c.1365-8G>T (n.1365-8G>T)
c.542-8G>T
c.1668-8G>T (n.1668-8G>T)
 gnomAD v4
11g.116748584A=CA2002706073BUD13c.1767-9T= (n.1767-9T=)
c.1365-9T= (n.1365-9T=)
c.542-9T=
c.1668-9T= (n.1668-9T=)
11g.116748584A>GCA6287880BUD13c.1767-9T>C (n.1767-9T>C)
c.1365-9T>C (n.1365-9T>C)
c.542-9T>C
c.1668-9T>C (n.1668-9T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748586_116748587delCA2616107722BUD13c.1767-10_1767-9del (n.1767-10_1767-9del)
c.1365-10_1365-9del (n.1365-10_1365-9del)
c.542-10_542-9del
c.1668-10_1668-9del (n.1668-10_1668-9del)
 gnomAD v4
11g.116748585A>CCA2616107723BUD13c.1767-10T>G (n.1767-10T>G)
c.1365-10T>G (n.1365-10T>G)
c.542-10T>G
c.1668-10T>G (n.1668-10T>G)
 gnomAD v4
11g.116748586A>GCA2616107724BUD13c.1767-11T>C (n.1767-11T>C)
c.1365-11T>C (n.1365-11T>C)
c.542-11T>C
c.1668-11T>C (n.1668-11T>C)
 gnomAD v4
11g.116748587_116748588insAACCAAACACACCCCA2793763203BUD13c.1767-13_1767-12insGGGTGTGTTTGGTT (n.1767-13_1767-12insGGGTGTGTTTGGTT)
c.1365-13_1365-12insGGGTGTGTTTGGTT (n.1365-13_1365-12insGGGTGTGTTTGGTT)
c.542-13_542-12insGGGTGTGTTTGGTT
c.1668-13_1668-12insGGGTGTGTTTGGTT (n.1668-13_1668-12insGGGTGTGTTTGGTT)
11g.116748588G>ACA6287881BUD13c.1767-13C>T (n.1767-13C>T)
c.1365-13C>T (n.1365-13C>T)
c.542-13C>T
c.1668-13C>T (n.1668-13C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748588G=CA2002706076BUD13c.1767-13C= (n.1767-13C=)
c.1365-13C= (n.1365-13C=)
c.542-13C=
c.1668-13C= (n.1668-13C=)
11g.116748590G>CCA2793763204BUD13c.1767-15C>G (n.1767-15C>G)
c.1365-15C>G (n.1365-15C>G)
c.542-15C>G
c.1668-15C>G (n.1668-15C>G)
11g.116748590G>TCA2616107725BUD13c.1767-15C>A (n.1767-15C>A)
c.1365-15C>A (n.1365-15C>A)
c.542-15C>A
c.1668-15C>A (n.1668-15C>A)
 gnomAD v4
11g.116748592C=CA2002706080BUD13c.1767-17G= (n.1767-17G=)
c.1365-17G= (n.1365-17G=)
c.542-17G=
c.1668-17G= (n.1668-17G=)
11g.116748592C>TCA6287882BUD13c.1767-17G>A (n.1767-17G>A)
c.1365-17G>A (n.1365-17G>A)
c.542-17G>A
c.1668-17G>A (n.1668-17G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748593A=CA2002706082BUD13c.1767-18T= (n.1767-18T=)
c.1365-18T= (n.1365-18T=)
c.542-18T=
c.1668-18T= (n.1668-18T=)
11g.116748593A>CCA6287884BUD13c.1767-18T>G (n.1767-18T>G)
c.1365-18T>G (n.1365-18T>G)
c.542-18T>G
c.1668-18T>G (n.1668-18T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.116748593A>GCA6287883BUD13c.1767-18T>C (n.1767-18T>C)
c.1365-18T>C (n.1365-18T>C)
c.542-18T>C
c.1668-18T>C (n.1668-18T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748594T>CCA6287885BUD13c.1767-19A>G (n.1767-19A>G)
c.1365-19A>G (n.1365-19A>G)
c.542-19A>G
c.1668-19A>G (n.1668-19A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748594T=CA2002706087BUD13c.1767-19A= (n.1767-19A=)
c.1365-19A= (n.1365-19A=)
c.542-19A=
c.1668-19A= (n.1668-19A=)
11g.116748596C>ACA2616107726BUD13c.1767-21G>T (n.1767-21G>T)
c.1365-21G>T (n.1365-21G>T)
c.542-21G>T
c.1668-21G>T (n.1668-21G>T)
 gnomAD v4
11g.116748596C=CA2002706092BUD13c.1767-21G= (n.1767-21G=)
c.1365-21G= (n.1365-21G=)
c.542-21G=
c.1668-21G= (n.1668-21G=)
11g.116748596C>GCA229294160BUD13c.1767-21G>C (n.1767-21G>C)
c.1365-21G>C (n.1365-21G>C)
c.542-21G>C
c.1668-21G>C (n.1668-21G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.116748597T>CCA601817723BUD13c.1767-22A>G (n.1767-22A>G)
c.1365-22A>G (n.1365-22A>G)
c.542-22A>G
c.1668-22A>G (n.1668-22A>G)
 dbSNP gnomAD v2 gnomAD v4
11g.116748597T=CA2002706095BUD13c.1767-22A= (n.1767-22A=)
c.1365-22A= (n.1365-22A=)
c.542-22A=
c.1668-22A= (n.1668-22A=)
11g.116748598A=CA2002706104BUD13c.1767-23T= (n.1767-23T=)
c.1365-23T= (n.1365-23T=)
c.542-23T=
c.1668-23T= (n.1668-23T=)
11g.116748598A>GCA6287886BUD13c.1767-23T>C (n.1767-23T>C)
c.1365-23T>C (n.1365-23T>C)
c.542-23T>C
c.1668-23T>C (n.1668-23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.116748599T>CCA2002706108BUD13c.1767-24A>G (n.1767-24A>G)
c.1365-24A>G (n.1365-24A>G)
c.542-24A>G
c.1668-24A>G (n.1668-24A>G)
 dbSNP gnomAD v4
11g.116748599T=CA2002706107BUD13c.1767-24A= (n.1767-24A=)
c.1365-24A= (n.1365-24A=)
c.542-24A=
c.1668-24A= (n.1668-24A=)
11g.116748601C=CA2002706109BUD13c.1767-26G= (n.1767-26G=)
c.1365-26G= (n.1365-26G=)
c.542-26G=
c.1668-26G= (n.1668-26G=)
11g.116748601C>TCA6287887BUD13c.1767-26G>A (n.1767-26G>A)
c.1365-26G>A (n.1365-26G>A)
c.542-26G>A
c.1668-26G>A (n.1668-26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched