Chr Mutation (hg38) CAid Gene Transcript Linkouts
8g.132967798T>ACA372233981TGc.5691T>A (p.Cys1897Ter)
c.86T>A
c.1057T>A
c.153T>A (p.Cys51Ter)
c.2346T>A
c.5499T>A (p.Cys1833Ter)
c.5625T>A (p.Cys1875Ter)
c.5520T>A (p.Cys1840Ter)
c.5472T>A (p.Cys1824Ter)
c.5430T>A (p.Cys1810Ter)
8g.132967798T>CCA463012482TGc.5691T>C (p.Cys1897=)
c.86T>C
c.1057T>C
c.153T>C (p.Cys51=)
c.2346T>C
c.5499T>C (p.Cys1833=)
c.5625T>C (p.Cys1875=)
c.5520T>C (p.Cys1840=)
c.5472T>C (p.Cys1824=)
c.5430T>C (p.Cys1810=)
8g.132967798T>GCA372233983TGc.5691T>G (p.Cys1897Trp)
c.86T>G
c.1057T>G
c.153T>G (p.Cys51Trp)
c.2346T>G
c.5499T>G (p.Cys1833Trp)
c.5625T>G (p.Cys1875Trp)
c.5520T>G (p.Cys1840Trp)
c.5472T>G (p.Cys1824Trp)
c.5430T>G (p.Cys1810Trp)
8g.132967799G>ACA372233988TGc.5692G>A (p.Val1898Met)
c.87G>A
c.1058G>A
c.154G>A (p.Val52Met)
c.2347G>A
c.5500G>A (p.Val1834Met)
c.5626G>A (p.Val1876Met)
c.5521G>A (p.Val1841Met)
c.5473G>A (p.Val1825Met)
c.5431G>A (p.Val1811Met)
8g.132967799G>CCA372233987TGc.5692G>C (p.Val1898Leu)
c.87G>C
c.1058G>C
c.154G>C (p.Val52Leu)
c.2347G>C
c.5500G>C (p.Val1834Leu)
c.5626G>C (p.Val1876Leu)
c.5521G>C (p.Val1841Leu)
c.5473G>C (p.Val1825Leu)
c.5431G>C (p.Val1811Leu)
8g.132967799G>TCA372233986TGc.5692G>T (p.Val1898Leu)
c.87G>T
c.1058G>T
c.154G>T (p.Val52Leu)
c.2347G>T
c.5500G>T (p.Val1834Leu)
c.5626G>T (p.Val1876Leu)
c.5521G>T (p.Val1841Leu)
c.5473G>T (p.Val1825Leu)
c.5431G>T (p.Val1811Leu)
8g.132967800T>ACA372233989TGc.5693T>A (p.Val1898Glu)
c.88T>A
c.1059T>A
c.155T>A (p.Val52Glu)
c.2348T>A
c.5501T>A (p.Val1834Glu)
c.5627T>A (p.Val1876Glu)
c.5522T>A (p.Val1841Glu)
c.5474T>A (p.Val1825Glu)
c.5432T>A (p.Val1811Glu)
8g.132967800T>CCA372233990TGc.5693T>C (p.Val1898Ala)
c.88T>C
c.1059T>C
c.155T>C (p.Val52Ala)
c.2348T>C
c.5501T>C (p.Val1834Ala)
c.5627T>C (p.Val1876Ala)
c.5522T>C (p.Val1841Ala)
c.5474T>C (p.Val1825Ala)
c.5432T>C (p.Val1811Ala)
8g.132967800T>GCA4884602TGc.5693T>G (p.Val1898Gly)
c.88T>G
c.1059T>G
c.155T>G (p.Val52Gly)
c.2348T>G
c.5501T>G (p.Val1834Gly)
c.5627T>G (p.Val1876Gly)
c.5522T>G (p.Val1841Gly)
c.5474T>G (p.Val1825Gly)
c.5432T>G (p.Val1811Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967800T=CA1821000849TGc.5693T= (p.Val1898=)
c.88T=
c.1059T=
c.155T= (p.Val52=)
c.2348T=
c.5501T= (p.Val1834=)
c.5627T= (p.Val1876=)
c.5522T= (p.Val1841=)
c.5474T= (p.Val1825=)
c.5432T= (p.Val1811=)
8g.132967801G>ACA4884603TGc.5694G>A (p.Val1898=)
c.89G>A
c.1060G>A
c.156G>A (p.Val52=)
c.2349G>A
c.5502G>A (p.Val1834=)
c.5628G>A (p.Val1876=)
c.5523G>A (p.Val1841=)
c.5475G>A (p.Val1825=)
c.5433G>A (p.Val1811=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967801G>CCA463012483TGc.5694G>C (p.Val1898=)
c.89G>C
c.1060G>C
c.156G>C (p.Val52=)
c.2349G>C
c.5502G>C (p.Val1834=)
c.5628G>C (p.Val1876=)
c.5523G>C (p.Val1841=)
c.5475G>C (p.Val1825=)
c.5433G>C (p.Val1811=)
8g.132967801G=CA1821000852TGc.5694G= (p.Val1898=)
c.89G=
c.1060G=
c.156G= (p.Val52=)
c.2349G=
c.5502G= (p.Val1834=)
c.5628G= (p.Val1876=)
c.5523G= (p.Val1841=)
c.5475G= (p.Val1825=)
c.5433G= (p.Val1811=)
8g.132967801G>TCA463012484TGc.5694G>T (p.Val1898=)
c.89G>T
c.1060G>T
c.156G>T (p.Val52=)
c.2349G>T
c.5502G>T (p.Val1834=)
c.5628G>T (p.Val1876=)
c.5523G>T (p.Val1841=)
c.5475G>T (p.Val1825=)
c.5433G>T (p.Val1811=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132967802C>ACA372233991TGc.5695C>A (p.Gln1899Lys)
c.90C>A
c.1061C>A
c.157C>A (p.Gln53Lys)
c.2350C>A
c.5503C>A (p.Gln1835Lys)
c.5629C>A (p.Gln1877Lys)
c.5524C>A (p.Gln1842Lys)
c.5476C>A (p.Gln1826Lys)
c.5434C>A (p.Gln1812Lys)
8g.132967802C=CA1821000855TGc.5695C= (p.Gln1899=)
c.90C=
c.1061C=
c.157C= (p.Gln53=)
c.2350C=
c.5503C= (p.Gln1835=)
c.5629C= (p.Gln1877=)
c.5524C= (p.Gln1842=)
c.5476C= (p.Gln1826=)
c.5434C= (p.Gln1812=)
8g.132967802C>GCA372233992TGc.5695C>G (p.Gln1899Glu)
c.90C>G
c.1061C>G
c.157C>G (p.Gln53Glu)
c.2350C>G
c.5503C>G (p.Gln1835Glu)
c.5629C>G (p.Gln1877Glu)
c.5524C>G (p.Gln1842Glu)
c.5476C>G (p.Gln1826Glu)
c.5434C>G (p.Gln1812Glu)
8g.132967802C>TCA372233993TGc.5695C>T (p.Gln1899Ter)
c.90C>T
c.1061C>T
c.157C>T (p.Gln53Ter)
c.2350C>T
c.5503C>T (p.Gln1835Ter)
c.5629C>T (p.Gln1877Ter)
c.5524C>T (p.Gln1842Ter)
c.5476C>T (p.Gln1826Ter)
c.5434C>T (p.Gln1812Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132967803A>CCA372233994TGc.5696A>C (p.Gln1899Pro)
c.91A>C
c.1062A>C
c.158A>C (p.Gln53Pro)
c.2351A>C
c.5504A>C (p.Gln1835Pro)
c.5630A>C (p.Gln1877Pro)
c.5525A>C (p.Gln1842Pro)
c.5477A>C (p.Gln1826Pro)
c.5435A>C (p.Gln1812Pro)
8g.132967803A>GCA372233995TGc.5696A>G (p.Gln1899Arg)
c.91A>G
c.1062A>G
c.158A>G (p.Gln53Arg)
c.2351A>G
c.5504A>G (p.Gln1835Arg)
c.5630A>G (p.Gln1877Arg)
c.5525A>G (p.Gln1842Arg)
c.5477A>G (p.Gln1826Arg)
c.5435A>G (p.Gln1812Arg)
8g.132967803A>TCA372233996TGc.5696A>T (p.Gln1899Leu)
c.91A>T
c.1062A>T
c.158A>T (p.Gln53Leu)
c.2351A>T
c.5504A>T (p.Gln1835Leu)
c.5630A>T (p.Gln1877Leu)
c.5525A>T (p.Gln1842Leu)
c.5477A>T (p.Gln1826Leu)
c.5435A>T (p.Gln1812Leu)
 COSMIC
8g.132967804G>ACA463012488TGc.5697G>A (p.Gln1899=)
c.92G>A
c.1063G>A
c.159G>A (p.Gln53=)
c.2352G>A
c.5505G>A (p.Gln1835=)
c.5631G>A (p.Gln1877=)
c.5526G>A (p.Gln1842=)
c.5478G>A (p.Gln1826=)
c.5436G>A (p.Gln1812=)
8g.132967804G>CCA372233997TGc.5697G>C (p.Gln1899His)
c.92G>C
c.1063G>C
c.159G>C (p.Gln53His)
c.2352G>C
c.5505G>C (p.Gln1835His)
c.5631G>C (p.Gln1877His)
c.5526G>C (p.Gln1842His)
c.5478G>C (p.Gln1826His)
c.5436G>C (p.Gln1812His)
8g.132967804G>TCA372233998TGc.5697G>T (p.Gln1899His)
c.92G>T
c.1063G>T
c.159G>T (p.Gln53His)
c.2352G>T
c.5505G>T (p.Gln1835His)
c.5631G>T (p.Gln1877His)
c.5526G>T (p.Gln1842His)
c.5478G>T (p.Gln1826His)
c.5436G>T (p.Gln1812His)
8g.132967805G>ACA372234000TGc.5698G>A (p.Glu1900Lys)
c.93G>A
c.1064G>A
c.160G>A (p.Glu54Lys)
c.2353G>A
c.5506G>A (p.Glu1836Lys)
c.5632G>A (p.Glu1878Lys)
c.5527G>A (p.Glu1843Lys)
c.5479G>A (p.Glu1827Lys)
c.5437G>A (p.Glu1813Lys)
 dbSNP gnomAD v2 gnomAD v4
8g.132967805G>CCA372234001TGc.5698G>C (p.Glu1900Gln)
c.93G>C
c.1064G>C
c.160G>C (p.Glu54Gln)
c.2353G>C
c.5506G>C (p.Glu1836Gln)
c.5632G>C (p.Glu1878Gln)
c.5527G>C (p.Glu1843Gln)
c.5479G>C (p.Glu1827Gln)
c.5437G>C (p.Glu1813Gln)
8g.132967805G=CA1821000858TGc.5698G= (p.Glu1900=)
c.93G=
c.1064G=
c.160G= (p.Glu54=)
c.2353G=
c.5506G= (p.Glu1836=)
c.5632G= (p.Glu1878=)
c.5527G= (p.Glu1843=)
c.5479G= (p.Glu1827=)
c.5437G= (p.Glu1813=)
8g.132967805G>TCA372233999TGc.5698G>T (p.Glu1900Ter)
c.93G>T
c.1064G>T
c.160G>T (p.Glu54Ter)
c.2353G>T
c.5506G>T (p.Glu1836Ter)
c.5632G>T (p.Glu1878Ter)
c.5527G>T (p.Glu1843Ter)
c.5479G>T (p.Glu1827Ter)
c.5437G>T (p.Glu1813Ter)
8g.132967806A>CCA372234004TGc.5699A>C (p.Glu1900Ala)
c.94A>C
c.1065A>C
c.161A>C (p.Glu54Ala)
c.2354A>C
c.5507A>C (p.Glu1836Ala)
c.5633A>C (p.Glu1878Ala)
c.5528A>C (p.Glu1843Ala)
c.5480A>C (p.Glu1827Ala)
c.5438A>C (p.Glu1813Ala)
8g.132967806A>GCA372234002TGc.5699A>G (p.Glu1900Gly)
c.94A>G
c.1065A>G
c.161A>G (p.Glu54Gly)
c.2354A>G
c.5507A>G (p.Glu1836Gly)
c.5633A>G (p.Glu1878Gly)
c.5528A>G (p.Glu1843Gly)
c.5480A>G (p.Glu1827Gly)
c.5438A>G (p.Glu1813Gly)
8g.132967806A>TCA372234003TGc.5699A>T (p.Glu1900Val)
c.94A>T
c.1065A>T
c.161A>T (p.Glu54Val)
c.2354A>T
c.5507A>T (p.Glu1836Val)
c.5633A>T (p.Glu1878Val)
c.5528A>T (p.Glu1843Val)
c.5480A>T (p.Glu1827Val)
c.5438A>T (p.Glu1813Val)
8g.132967807G>ACA463012489TGc.5700G>A (p.Glu1900=)
c.95G>A
c.1066G>A
c.162G>A (p.Glu54=)
c.2355G>A
c.5508G>A (p.Glu1836=)
c.5634G>A (p.Glu1878=)
c.5529G>A (p.Glu1843=)
c.5481G>A (p.Glu1827=)
c.5439G>A (p.Glu1813=)
 dbSNP
8g.132967807G>CCA372234005TGc.5700G>C (p.Glu1900Asp)
c.95G>C
c.1066G>C
c.162G>C (p.Glu54Asp)
c.2355G>C
c.5508G>C (p.Glu1836Asp)
c.5634G>C (p.Glu1878Asp)
c.5529G>C (p.Glu1843Asp)
c.5481G>C (p.Glu1827Asp)
c.5439G>C (p.Glu1813Asp)
8g.132967807G=CA1821000860TGc.5700G= (p.Glu1900=)
c.95G=
c.1066G=
c.162G= (p.Glu54=)
c.2355G=
c.5508G= (p.Glu1836=)
c.5634G= (p.Glu1878=)
c.5529G= (p.Glu1843=)
c.5481G= (p.Glu1827=)
c.5439G= (p.Glu1813=)
8g.132967807G>TCA372234006TGc.5700G>T (p.Glu1900Asp)
c.95G>T
c.1066G>T
c.162G>T (p.Glu54Asp)
c.2355G>T
c.5508G>T (p.Glu1836Asp)
c.5634G>T (p.Glu1878Asp)
c.5529G>T (p.Glu1843Asp)
c.5481G>T (p.Glu1827Asp)
c.5439G>T (p.Glu1813Asp)
8g.132967808C>ACA372234007TGc.5701C>A (p.His1901Asn)
c.96C>A
c.1067C>A
c.163C>A (p.His55Asn)
c.2356C>A
c.5509C>A (p.His1837Asn)
c.5635C>A (p.His1879Asn)
c.5530C>A (p.His1844Asn)
c.5482C>A (p.His1828Asn)
c.5440C>A (p.His1814Asn)
8g.132967808C=CA1821000864TGc.5701C= (p.His1901=)
c.96C=
c.1067C=
c.163C= (p.His55=)
c.2356C=
c.5509C= (p.His1837=)
c.5635C= (p.His1879=)
c.5530C= (p.His1844=)
c.5482C= (p.His1828=)
c.5440C= (p.His1814=)
8g.132967808C>GCA4884604TGc.5701C>G (p.His1901Asp)
c.96C>G
c.1067C>G
c.163C>G (p.His55Asp)
c.2356C>G
c.5509C>G (p.His1837Asp)
c.5635C>G (p.His1879Asp)
c.5530C>G (p.His1844Asp)
c.5482C>G (p.His1828Asp)
c.5440C>G (p.His1814Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967808C>TCA372234008TGc.5701C>T (p.His1901Tyr)
c.96C>T
c.1067C>T
c.163C>T (p.His55Tyr)
c.2356C>T
c.5509C>T (p.His1837Tyr)
c.5635C>T (p.His1879Tyr)
c.5530C>T (p.His1844Tyr)
c.5482C>T (p.His1828Tyr)
c.5440C>T (p.His1814Tyr)
 gnomAD v4
8g.132967809A=CA1821000874TGc.5702A= (p.His1901=)
c.97A=
c.1068A=
c.164A= (p.His55=)
c.2357A=
c.5510A= (p.His1837=)
c.5636A= (p.His1879=)
c.5531A= (p.His1844=)
c.5483A= (p.His1828=)
c.5441A= (p.His1814=)
8g.132967809A>CCA372234009TGc.5702A>C (p.His1901Pro)
c.97A>C
c.1068A>C
c.164A>C (p.His55Pro)
c.2357A>C
c.5510A>C (p.His1837Pro)
c.5636A>C (p.His1879Pro)
c.5531A>C (p.His1844Pro)
c.5483A>C (p.His1828Pro)
c.5441A>C (p.His1814Pro)
 ClinVar
8g.132967809A>GCA4884605TGc.5702A>G (p.His1901Arg)
c.97A>G
c.1068A>G
c.164A>G (p.His55Arg)
c.2357A>G
c.5510A>G (p.His1837Arg)
c.5636A>G (p.His1879Arg)
c.5531A>G (p.His1844Arg)
c.5483A>G (p.His1828Arg)
c.5441A>G (p.His1814Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967809A>TCA372234010TGc.5702A>T (p.His1901Leu)
c.97A>T
c.1068A>T
c.164A>T (p.His55Leu)
c.2357A>T
c.5510A>T (p.His1837Leu)
c.5636A>T (p.His1879Leu)
c.5531A>T (p.His1844Leu)
c.5483A>T (p.His1828Leu)
c.5441A>T (p.His1814Leu)
8g.132967810C>ACA372234011TGc.5703C>A (p.His1901Gln)
c.98C>A
c.1069C>A
c.165C>A (p.His55Gln)
c.2358C>A
c.5511C>A (p.His1837Gln)
c.5637C>A (p.His1879Gln)
c.5532C>A (p.His1844Gln)
c.5484C>A (p.His1828Gln)
c.5442C>A (p.His1814Gln)
8g.132967810C=CA1821000877TGc.5703C= (p.His1901=)
c.98C=
c.1069C=
c.165C= (p.His55=)
c.2358C=
c.5511C= (p.His1837=)
c.5637C= (p.His1879=)
c.5532C= (p.His1844=)
c.5484C= (p.His1828=)
c.5442C= (p.His1814=)
8g.132967810C>GCA372234012TGc.5703C>G (p.His1901Gln)
c.98C>G
c.1069C>G
c.165C>G (p.His55Gln)
c.2358C>G
c.5511C>G (p.His1837Gln)
c.5637C>G (p.His1879Gln)
c.5532C>G (p.His1844Gln)
c.5484C>G (p.His1828Gln)
c.5442C>G (p.His1814Gln)
 dbSNP
8g.132967810C>TCA186291885TGc.5703C>T (p.His1901=)
c.98C>T
c.1069C>T
c.165C>T (p.His55=)
c.2358C>T
c.5511C>T (p.His1837=)
c.5637C>T (p.His1879=)
c.5532C>T (p.His1844=)
c.5484C>T (p.His1828=)
c.5442C>T (p.His1814=)
 dbSNP
8g.132967810_132967814delinsCTCTTCA1821000878TGc.5703_5707delinsCTCTT (p.His1901=)
c.98_102delinsCTCTT
c.1069_1073delinsCTCTT
c.165_169delinsCTCTT (p.His55=)
c.2358_2362delinsCTCTT
c.5511_5515delinsCTCTT (p.His1837=)
c.5637_5641delinsCTCTT (p.His1879=)
c.5532_5536delinsCTCTT (p.His1844=)
c.5484_5488delinsCTCTT (p.His1828=)
c.5442_5446delinsCTCTT (p.His1814=)
8g.132967811T>ACA372234015TGc.5704T>A (p.Ser1902Thr)
c.99T>A
c.1070T>A
c.166T>A (p.Ser56Thr)
c.2359T>A
c.5512T>A (p.Ser1838Thr)
c.5638T>A (p.Ser1880Thr)
c.5533T>A (p.Ser1845Thr)
c.5485T>A (p.Ser1829Thr)
c.5443T>A (p.Ser1815Thr)
8g.132967811T>CCA372234013TGc.5704T>C (p.Ser1902Pro)
c.99T>C
c.1070T>C
c.166T>C (p.Ser56Pro)
c.2359T>C
c.5512T>C (p.Ser1838Pro)
c.5638T>C (p.Ser1880Pro)
c.5533T>C (p.Ser1845Pro)
c.5485T>C (p.Ser1829Pro)
c.5443T>C (p.Ser1815Pro)
8g.132967811T>GCA372234014TGc.5704T>G (p.Ser1902Ala)
c.99T>G
c.1070T>G
c.166T>G (p.Ser56Ala)
c.2359T>G
c.5512T>G (p.Ser1838Ala)
c.5638T>G (p.Ser1880Ala)
c.5533T>G (p.Ser1845Ala)
c.5485T>G (p.Ser1829Ala)
c.5443T>G (p.Ser1815Ala)
8g.132967814_132967817delCA1821000880TGc.5707_5710del (p.Phe1903ValfsTer6)
c.102_105del
c.1073_1076del
c.169_172del (p.Phe57ValfsTer6)
c.2362_2365del
c.5515_5518del (p.Phe1839ValfsTer6)
c.5641_5644del (p.Phe1881ValfsTer6)
c.5536_5539del (p.Phe1846ValfsTer6)
c.5488_5491del (p.Phe1830ValfsTer6)
c.5446_5449del (p.Phe1816ValfsTer6)
 dbSNP
8g.132967812C>ACA372234016TGc.5705C>A (p.Ser1902Tyr)
c.100C>A
c.1071C>A
c.167C>A (p.Ser56Tyr)
c.2360C>A
c.5513C>A (p.Ser1838Tyr)
c.5639C>A (p.Ser1880Tyr)
c.5534C>A (p.Ser1845Tyr)
c.5486C>A (p.Ser1829Tyr)
c.5444C>A (p.Ser1815Tyr)
8g.132967812C=CA1821000882TGc.5705C= (p.Ser1902=)
c.100C=
c.1071C=
c.167C= (p.Ser56=)
c.2360C=
c.5513C= (p.Ser1838=)
c.5639C= (p.Ser1880=)
c.5534C= (p.Ser1845=)
c.5486C= (p.Ser1829=)
c.5444C= (p.Ser1815=)
8g.132967812C>GCA372234017TGc.5705C>G (p.Ser1902Cys)
c.100C>G
c.1071C>G
c.167C>G (p.Ser56Cys)
c.2360C>G
c.5513C>G (p.Ser1838Cys)
c.5639C>G (p.Ser1880Cys)
c.5534C>G (p.Ser1845Cys)
c.5486C>G (p.Ser1829Cys)
c.5444C>G (p.Ser1815Cys)
8g.132967812C>TCA372234018TGc.5705C>T (p.Ser1902Phe)
c.100C>T
c.1071C>T
c.167C>T (p.Ser56Phe)
c.2360C>T
c.5513C>T (p.Ser1838Phe)
c.5639C>T (p.Ser1880Phe)
c.5534C>T (p.Ser1845Phe)
c.5486C>T (p.Ser1829Phe)
c.5444C>T (p.Ser1815Phe)
 dbSNP
8g.132967813T>ACA463012494TGc.5706T>A (p.Ser1902=)
c.101T>A
c.1072T>A
c.168T>A (p.Ser56=)
c.2361T>A
c.5514T>A (p.Ser1838=)
c.5640T>A (p.Ser1880=)
c.5535T>A (p.Ser1845=)
c.5487T>A (p.Ser1829=)
c.5445T>A (p.Ser1815=)
8g.132967813T>CCA463012496TGc.5706T>C (p.Ser1902=)
c.101T>C
c.1072T>C
c.168T>C (p.Ser56=)
c.2361T>C
c.5514T>C (p.Ser1838=)
c.5640T>C (p.Ser1880=)
c.5535T>C (p.Ser1845=)
c.5487T>C (p.Ser1829=)
c.5445T>C (p.Ser1815=)
8g.132967813T>GCA463012493TGc.5706T>G (p.Ser1902=)
c.101T>G
c.1072T>G
c.168T>G (p.Ser56=)
c.2361T>G
c.5514T>G (p.Ser1838=)
c.5640T>G (p.Ser1880=)
c.5535T>G (p.Ser1845=)
c.5487T>G (p.Ser1829=)
c.5445T>G (p.Ser1815=)
8g.132967814T>ACA372234019TGc.5707T>A (p.Phe1903Ile)
c.102T>A
c.1073T>A
c.169T>A (p.Phe57Ile)
c.2362T>A
c.5515T>A (p.Phe1839Ile)
c.5641T>A (p.Phe1881Ile)
c.5536T>A (p.Phe1846Ile)
c.5488T>A (p.Phe1830Ile)
c.5446T>A (p.Phe1816Ile)
8g.132967814T>CCA372234020TGc.5707T>C (p.Phe1903Leu)
c.102T>C
c.1073T>C
c.169T>C (p.Phe57Leu)
c.2362T>C
c.5515T>C (p.Phe1839Leu)
c.5641T>C (p.Phe1881Leu)
c.5536T>C (p.Phe1846Leu)
c.5488T>C (p.Phe1830Leu)
c.5446T>C (p.Phe1816Leu)
8g.132967814T>GCA372234021TGc.5707T>G (p.Phe1903Val)
c.102T>G
c.1073T>G
c.169T>G (p.Phe57Val)
c.2362T>G
c.5515T>G (p.Phe1839Val)
c.5641T>G (p.Phe1881Val)
c.5536T>G (p.Phe1846Val)
c.5488T>G (p.Phe1830Val)
c.5446T>G (p.Phe1816Val)
8g.132967815T>ACA372234022TGc.5708T>A (p.Phe1903Tyr)
c.103T>A
c.1074T>A
c.170T>A (p.Phe57Tyr)
c.2363T>A
c.5516T>A (p.Phe1839Tyr)
c.5642T>A (p.Phe1881Tyr)
c.5537T>A (p.Phe1846Tyr)
c.5489T>A (p.Phe1830Tyr)
c.5447T>A (p.Phe1816Tyr)
8g.132967815T>CCA372234023TGc.5708T>C (p.Phe1903Ser)
c.103T>C
c.1074T>C
c.170T>C (p.Phe57Ser)
c.2363T>C
c.5516T>C (p.Phe1839Ser)
c.5642T>C (p.Phe1881Ser)
c.5537T>C (p.Phe1846Ser)
c.5489T>C (p.Phe1830Ser)
c.5447T>C (p.Phe1816Ser)
 dbSNP gnomAD v4
8g.132967815T>GCA372234024TGc.5708T>G (p.Phe1903Cys)
c.103T>G
c.1074T>G
c.170T>G (p.Phe57Cys)
c.2363T>G
c.5516T>G (p.Phe1839Cys)
c.5642T>G (p.Phe1881Cys)
c.5537T>G (p.Phe1846Cys)
c.5489T>G (p.Phe1830Cys)
c.5447T>G (p.Phe1816Cys)
8g.132967815T=CA1821000886TGc.5708T= (p.Phe1903=)
c.103T=
c.1074T=
c.170T= (p.Phe57=)
c.2363T=
c.5516T= (p.Phe1839=)
c.5642T= (p.Phe1881=)
c.5537T= (p.Phe1846=)
c.5489T= (p.Phe1830=)
c.5447T= (p.Phe1816=)
8g.132967816C>ACA372234025TGc.5709C>A (p.Phe1903Leu)
c.104C>A
c.1075C>A
c.171C>A (p.Phe57Leu)
c.2364C>A
c.5517C>A (p.Phe1839Leu)
c.5643C>A (p.Phe1881Leu)
c.5538C>A (p.Phe1846Leu)
c.5490C>A (p.Phe1830Leu)
c.5448C>A (p.Phe1816Leu)
 gnomAD v4
8g.132967816C=CA1821000888TGc.5709C= (p.Phe1903=)
c.104C=
c.1075C=
c.171C= (p.Phe57=)
c.2364C=
c.5517C= (p.Phe1839=)
c.5643C= (p.Phe1881=)
c.5538C= (p.Phe1846=)
c.5490C= (p.Phe1830=)
c.5448C= (p.Phe1816=)
8g.132967816C>GCA372234026TGc.5709C>G (p.Phe1903Leu)
c.104C>G
c.1075C>G
c.171C>G (p.Phe57Leu)
c.2364C>G
c.5517C>G (p.Phe1839Leu)
c.5643C>G (p.Phe1881Leu)
c.5538C>G (p.Phe1846Leu)
c.5490C>G (p.Phe1830Leu)
c.5448C>G (p.Phe1816Leu)
8g.132967816C>TCA4884606TGc.5709C>T (p.Phe1903=)
c.104C>T
c.1075C>T
c.171C>T (p.Phe57=)
c.2364C>T
c.5517C>T (p.Phe1839=)
c.5643C>T (p.Phe1881=)
c.5538C>T (p.Phe1846=)
c.5490C>T (p.Phe1830=)
c.5448C>T (p.Phe1816=)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967817T>ACA372234027TGc.5710T>A (p.Cys1904Ser)
c.105T>A
c.1076T>A
c.172T>A (p.Cys58Ser)
c.2365T>A
c.5518T>A (p.Cys1840Ser)
c.5644T>A (p.Cys1882Ser)
c.5539T>A (p.Cys1847Ser)
c.5491T>A (p.Cys1831Ser)
c.5449T>A (p.Cys1817Ser)
8g.132967817T>CCA372234028TGc.5710T>C (p.Cys1904Arg)
c.105T>C
c.1076T>C
c.172T>C (p.Cys58Arg)
c.2365T>C
c.5518T>C (p.Cys1840Arg)
c.5644T>C (p.Cys1882Arg)
c.5539T>C (p.Cys1847Arg)
c.5491T>C (p.Cys1831Arg)
c.5449T>C (p.Cys1817Arg)
8g.132967817T>GCA4884607TGc.5710T>G (p.Cys1904Gly)
c.105T>G
c.1076T>G
c.172T>G (p.Cys58Gly)
c.2365T>G
c.5518T>G (p.Cys1840Gly)
c.5644T>G (p.Cys1882Gly)
c.5539T>G (p.Cys1847Gly)
c.5491T>G (p.Cys1831Gly)
c.5449T>G (p.Cys1817Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967817T=CA1821000891TGc.5710T= (p.Cys1904=)
c.105T=
c.1076T=
c.172T= (p.Cys58=)
c.2365T=
c.5518T= (p.Cys1840=)
c.5644T= (p.Cys1882=)
c.5539T= (p.Cys1847=)
c.5491T= (p.Cys1831=)
c.5449T= (p.Cys1817=)
8g.132967818G>ACA372234029TGc.5711G>A (p.Cys1904Tyr)
c.106G>A
c.1077G>A
c.173G>A (p.Cys58Tyr)
c.2366G>A
c.5519G>A (p.Cys1840Tyr)
c.5645G>A (p.Cys1882Tyr)
c.5540G>A (p.Cys1847Tyr)
c.5492G>A (p.Cys1831Tyr)
c.5450G>A (p.Cys1817Tyr)
8g.132967818G>CCA372234030TGc.5711G>C (p.Cys1904Ser)
c.106G>C
c.1077G>C
c.173G>C (p.Cys58Ser)
c.2366G>C
c.5519G>C (p.Cys1840Ser)
c.5645G>C (p.Cys1882Ser)
c.5540G>C (p.Cys1847Ser)
c.5492G>C (p.Cys1831Ser)
c.5450G>C (p.Cys1817Ser)
8g.132967818G>TCA372234031TGc.5711G>T (p.Cys1904Phe)
c.106G>T
c.1077G>T
c.173G>T (p.Cys58Phe)
c.2366G>T
c.5519G>T (p.Cys1840Phe)
c.5645G>T (p.Cys1882Phe)
c.5540G>T (p.Cys1847Phe)
c.5492G>T (p.Cys1831Phe)
c.5450G>T (p.Cys1817Phe)
8g.132967819T>ACA372234032TGc.5712T>A (p.Cys1904Ter)
c.107T>A
c.1078T>A
c.174T>A (p.Cys58Ter)
c.2367T>A
c.5520T>A (p.Cys1840Ter)
c.5646T>A (p.Cys1882Ter)
c.5541T>A (p.Cys1847Ter)
c.5493T>A (p.Cys1831Ter)
c.5451T>A (p.Cys1817Ter)
8g.132967819T>CCA463012499TGc.5712T>C (p.Cys1904=)
c.107T>C
c.1078T>C
c.174T>C (p.Cys58=)
c.2367T>C
c.5520T>C (p.Cys1840=)
c.5646T>C (p.Cys1882=)
c.5541T>C (p.Cys1847=)
c.5493T>C (p.Cys1831=)
c.5451T>C (p.Cys1817=)
8g.132967819T>GCA372234033TGc.5712T>G (p.Cys1904Trp)
c.107T>G
c.1078T>G
c.174T>G (p.Cys58Trp)
c.2367T>G
c.5520T>G (p.Cys1840Trp)
c.5646T>G (p.Cys1882Trp)
c.5541T>G (p.Cys1847Trp)
c.5493T>G (p.Cys1831Trp)
c.5451T>G (p.Cys1817Trp)
8g.132967820C>ACA372234034TGc.5713C>A (p.Gln1905Lys)
c.108C>A
c.1079C>A
c.175C>A (p.Gln59Lys)
c.2368C>A
c.5521C>A (p.Gln1841Lys)
c.5647C>A (p.Gln1883Lys)
c.5542C>A (p.Gln1848Lys)
c.5494C>A (p.Gln1832Lys)
c.5452C>A (p.Gln1818Lys)
8g.132967820C=CA1821000896TGc.5713C= (p.Gln1905=)
c.108C=
c.1079C=
c.175C= (p.Gln59=)
c.2368C=
c.5521C= (p.Gln1841=)
c.5647C= (p.Gln1883=)
c.5542C= (p.Gln1848=)
c.5494C= (p.Gln1832=)
c.5452C= (p.Gln1818=)
8g.132967820C>GCA372234035TGc.5713C>G (p.Gln1905Glu)
c.108C>G
c.1079C>G
c.175C>G (p.Gln59Glu)
c.2368C>G
c.5521C>G (p.Gln1841Glu)
c.5647C>G (p.Gln1883Glu)
c.5542C>G (p.Gln1848Glu)
c.5494C>G (p.Gln1832Glu)
c.5452C>G (p.Gln1818Glu)
8g.132967820C>TCA372234036TGc.5713C>T (p.Gln1905Ter)
c.108C>T
c.1079C>T
c.175C>T (p.Gln59Ter)
c.2368C>T
c.5521C>T (p.Gln1841Ter)
c.5647C>T (p.Gln1883Ter)
c.5542C>T (p.Gln1848Ter)
c.5494C>T (p.Gln1832Ter)
c.5452C>T (p.Gln1818Ter)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132967821A>CCA372234037TGc.5714A>C (p.Gln1905Pro)
c.109A>C
c.1080A>C
c.176A>C (p.Gln59Pro)
c.2369A>C
c.5522A>C (p.Gln1841Pro)
c.5648A>C (p.Gln1883Pro)
c.5543A>C (p.Gln1848Pro)
c.5495A>C (p.Gln1832Pro)
c.5453A>C (p.Gln1818Pro)
 gnomAD v4
8g.132967821A>GCA372234038TGc.5714A>G (p.Gln1905Arg)
c.109A>G
c.1080A>G
c.176A>G (p.Gln59Arg)
c.2369A>G
c.5522A>G (p.Gln1841Arg)
c.5648A>G (p.Gln1883Arg)
c.5543A>G (p.Gln1848Arg)
c.5495A>G (p.Gln1832Arg)
c.5453A>G (p.Gln1818Arg)
 dbSNP
8g.132967821A>TCA372234039TGc.5714A>T (p.Gln1905Leu)
c.109A>T
c.1080A>T
c.176A>T (p.Gln59Leu)
c.2369A>T
c.5522A>T (p.Gln1841Leu)
c.5648A>T (p.Gln1883Leu)
c.5543A>T (p.Gln1848Leu)
c.5495A>T (p.Gln1832Leu)
c.5453A>T (p.Gln1818Leu)
8g.132967822G>ACA463012500TGc.5715G>A (p.Gln1905=)
c.110G>A
c.1081G>A
c.177G>A (p.Gln59=)
c.2370G>A
c.5523G>A (p.Gln1841=)
c.5649G>A (p.Gln1883=)
c.5544G>A (p.Gln1848=)
c.5496G>A (p.Gln1832=)
c.5454G>A (p.Gln1818=)
8g.132967822G>CCA372234040TGc.5715G>C (p.Gln1905His)
c.110G>C
c.1081G>C
c.177G>C (p.Gln59His)
c.2370G>C
c.5523G>C (p.Gln1841His)
c.5649G>C (p.Gln1883His)
c.5544G>C (p.Gln1848His)
c.5496G>C (p.Gln1832His)
c.5454G>C (p.Gln1818His)
8g.132967822G>TCA372234041TGc.5715G>T (p.Gln1905His)
c.110G>T
c.1081G>T
c.177G>T (p.Gln59His)
c.2370G>T
c.5523G>T (p.Gln1841His)
c.5649G>T (p.Gln1883His)
c.5544G>T (p.Gln1848His)
c.5496G>T (p.Gln1832His)
c.5454G>T (p.Gln1818His)
 gnomAD v4
8g.132967823C>ACA372234043TGc.5716C>A (p.Leu1906Ile)
c.111C>A
c.1082C>A
c.178C>A (p.Leu60Ile)
c.2371C>A
c.5524C>A (p.Leu1842Ile)
c.5650C>A (p.Leu1884Ile)
c.5545C>A (p.Leu1849Ile)
c.5497C>A (p.Leu1833Ile)
c.5455C>A (p.Leu1819Ile)
8g.132967823C=CA1821000900TGc.5716C= (p.Leu1906=)
c.111C=
c.1082C=
c.178C= (p.Leu60=)
c.2371C=
c.5524C= (p.Leu1842=)
c.5650C= (p.Leu1884=)
c.5545C= (p.Leu1849=)
c.5497C= (p.Leu1833=)
c.5455C= (p.Leu1819=)
8g.132967823C>GCA372234042TGc.5716C>G (p.Leu1906Val)
c.111C>G
c.1082C>G
c.178C>G (p.Leu60Val)
c.2371C>G
c.5524C>G (p.Leu1842Val)
c.5650C>G (p.Leu1884Val)
c.5545C>G (p.Leu1849Val)
c.5497C>G (p.Leu1833Val)
c.5455C>G (p.Leu1819Val)
8g.132967823C>TCA4884608TGc.5716C>T (p.Leu1906Phe)
c.111C>T
c.1082C>T
c.178C>T (p.Leu60Phe)
c.2371C>T
c.5524C>T (p.Leu1842Phe)
c.5650C>T (p.Leu1884Phe)
c.5545C>T (p.Leu1849Phe)
c.5497C>T (p.Leu1833Phe)
c.5455C>T (p.Leu1819Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967824T>ACA372234044TGc.5717T>A (p.Leu1906His)
c.112T>A
c.1083T>A
c.179T>A (p.Leu60His)
c.2372T>A
c.5525T>A (p.Leu1842His)
c.5651T>A (p.Leu1884His)
c.5546T>A (p.Leu1849His)
c.5498T>A (p.Leu1833His)
c.5456T>A (p.Leu1819His)
8g.132967824T>CCA372234045TGc.5717T>C (p.Leu1906Pro)
c.112T>C
c.1083T>C
c.179T>C (p.Leu60Pro)
c.2372T>C
c.5525T>C (p.Leu1842Pro)
c.5651T>C (p.Leu1884Pro)
c.5546T>C (p.Leu1849Pro)
c.5498T>C (p.Leu1833Pro)
c.5456T>C (p.Leu1819Pro)
8g.132967824T>GCA372234046TGc.5717T>G (p.Leu1906Arg)
c.112T>G
c.1083T>G
c.179T>G (p.Leu60Arg)
c.2372T>G
c.5525T>G (p.Leu1842Arg)
c.5651T>G (p.Leu1884Arg)
c.5546T>G (p.Leu1849Arg)
c.5498T>G (p.Leu1833Arg)
c.5456T>G (p.Leu1819Arg)
8g.132967825C>ACA463012503TGc.5718C>A (p.Leu1906=)
c.113C>A
c.1084C>A
c.180C>A (p.Leu60=)
c.2373C>A
c.5526C>A (p.Leu1842=)
c.5652C>A (p.Leu1884=)
c.5547C>A (p.Leu1849=)
c.5499C>A (p.Leu1833=)
c.5457C>A (p.Leu1819=)
 gnomAD v4
8g.132967825C=CA1821000905TGc.5718C= (p.Leu1906=)
c.113C=
c.1084C=
c.180C= (p.Leu60=)
c.2373C=
c.5526C= (p.Leu1842=)
c.5652C= (p.Leu1884=)
c.5547C= (p.Leu1849=)
c.5499C= (p.Leu1833=)
c.5457C= (p.Leu1819=)
8g.132967825C>GCA463012504TGc.5718C>G (p.Leu1906=)
c.113C>G
c.1084C>G
c.180C>G (p.Leu60=)
c.2373C>G
c.5526C>G (p.Leu1842=)
c.5652C>G (p.Leu1884=)
c.5547C>G (p.Leu1849=)
c.5499C>G (p.Leu1833=)
c.5457C>G (p.Leu1819=)
8g.132967825C>TCA4884609TGc.5718C>T (p.Leu1906=)
c.113C>T
c.1084C>T
c.180C>T (p.Leu60=)
c.2373C>T
c.5526C>T (p.Leu1842=)
c.5652C>T (p.Leu1884=)
c.5547C>T (p.Leu1849=)
c.5499C>T (p.Leu1833=)
c.5457C>T (p.Leu1819=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967826G>ACA4884610TGc.5719G>A (p.Ala1907Thr)
c.114G>A
c.1085G>A
c.181G>A (p.Ala61Thr)
c.2374G>A
c.5527G>A (p.Ala1843Thr)
c.5653G>A (p.Ala1885Thr)
c.5548G>A (p.Ala1850Thr)
c.5500G>A (p.Ala1834Thr)
c.5458G>A (p.Ala1820Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
8g.132967826G>CCA372234047TGc.5719G>C (p.Ala1907Pro)
c.114G>C
c.1085G>C
c.181G>C (p.Ala61Pro)
c.2374G>C
c.5527G>C (p.Ala1843Pro)
c.5653G>C (p.Ala1885Pro)
c.5548G>C (p.Ala1850Pro)
c.5500G>C (p.Ala1834Pro)
c.5458G>C (p.Ala1820Pro)
 gnomAD v4
8g.132967826G=CA1821000909TGc.5719G= (p.Ala1907=)
c.114G=
c.1085G=
c.181G= (p.Ala61=)
c.2374G=
c.5527G= (p.Ala1843=)
c.5653G= (p.Ala1885=)
c.5548G= (p.Ala1850=)
c.5500G= (p.Ala1834=)
c.5458G= (p.Ala1820=)
8g.132967826G>TCA372234048TGc.5719G>T (p.Ala1907Ser)
c.114G>T
c.1085G>T
c.181G>T (p.Ala61Ser)
c.2374G>T
c.5527G>T (p.Ala1843Ser)
c.5653G>T (p.Ala1885Ser)
c.5548G>T (p.Ala1850Ser)
c.5500G>T (p.Ala1834Ser)
c.5458G>T (p.Ala1820Ser)
 gnomAD v4
8g.132967827C>ACA372234049TGc.5720C>A (p.Ala1907Glu)
c.115C>A
c.1086C>A
c.182C>A (p.Ala61Glu)
c.2375C>A
c.5528C>A (p.Ala1843Glu)
c.5654C>A (p.Ala1885Glu)
c.5549C>A (p.Ala1850Glu)
c.5501C>A (p.Ala1834Glu)
c.5459C>A (p.Ala1820Glu)
8g.132967827C>GCA372234050TGc.5720C>G (p.Ala1907Gly)
c.115C>G
c.1086C>G
c.182C>G (p.Ala61Gly)
c.2375C>G
c.5528C>G (p.Ala1843Gly)
c.5654C>G (p.Ala1885Gly)
c.5549C>G (p.Ala1850Gly)
c.5501C>G (p.Ala1834Gly)
c.5459C>G (p.Ala1820Gly)
8g.132967827C>TCA372234051TGc.5720C>T (p.Ala1907Val)
c.115C>T
c.1086C>T
c.182C>T (p.Ala61Val)
c.2375C>T
c.5528C>T (p.Ala1843Val)
c.5654C>T (p.Ala1885Val)
c.5549C>T (p.Ala1850Val)
c.5501C>T (p.Ala1834Val)
c.5459C>T (p.Ala1820Val)
 gnomAD v4
8g.132967828A=CA1821000911TGc.5721A= (p.Ala1907=)
c.116A=
c.1087A=
c.183A= (p.Ala61=)
c.2376A=
c.5529A= (p.Ala1843=)
c.5655A= (p.Ala1885=)
c.5550A= (p.Ala1850=)
c.5502A= (p.Ala1834=)
c.5460A= (p.Ala1820=)
8g.132967828A>CCA463012506TGc.5721A>C (p.Ala1907=)
c.116A>C
c.1087A>C
c.183A>C (p.Ala61=)
c.2376A>C
c.5529A>C (p.Ala1843=)
c.5655A>C (p.Ala1885=)
c.5550A>C (p.Ala1850=)
c.5502A>C (p.Ala1834=)
c.5460A>C (p.Ala1820=)
8g.132967828A>GCA463012508TGc.5721A>G (p.Ala1907=)
c.116A>G
c.1087A>G
c.183A>G (p.Ala61=)
c.2376A>G
c.5529A>G (p.Ala1843=)
c.5655A>G (p.Ala1885=)
c.5550A>G (p.Ala1850=)
c.5502A>G (p.Ala1834=)
c.5460A>G (p.Ala1820=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132967828A>TCA463012509TGc.5721A>T (p.Ala1907=)
c.116A>T
c.1087A>T
c.183A>T (p.Ala61=)
c.2376A>T
c.5529A>T (p.Ala1843=)
c.5655A>T (p.Ala1885=)
c.5550A>T (p.Ala1850=)
c.5502A>T (p.Ala1834=)
c.5460A>T (p.Ala1820=)
8g.132967829G>ACA372234052TGc.5722G>A (p.Glu1908Lys)
c.117G>A
c.1088G>A
c.184G>A (p.Glu62Lys)
c.2377G>A
c.5530G>A (p.Glu1844Lys)
c.5656G>A (p.Glu1886Lys)
c.5551G>A (p.Glu1851Lys)
c.5503G>A (p.Glu1835Lys)
c.5461G>A (p.Glu1821Lys)
8g.132967829G>CCA372234053TGc.5722G>C (p.Glu1908Gln)
c.117G>C
c.1088G>C
c.184G>C (p.Glu62Gln)
c.2377G>C
c.5530G>C (p.Glu1844Gln)
c.5656G>C (p.Glu1886Gln)
c.5551G>C (p.Glu1851Gln)
c.5503G>C (p.Glu1835Gln)
c.5461G>C (p.Glu1821Gln)
8g.132967829G>TCA372234054TGc.5722G>T (p.Glu1908Ter)
c.117G>T
c.1088G>T
c.184G>T (p.Glu62Ter)
c.2377G>T
c.5530G>T (p.Glu1844Ter)
c.5656G>T (p.Glu1886Ter)
c.5551G>T (p.Glu1851Ter)
c.5503G>T (p.Glu1835Ter)
c.5461G>T (p.Glu1821Ter)
 gnomAD v4
8g.132967830A=CA1821000914TGc.5723A= (p.Glu1908=)
c.118A=
c.1089A=
c.185A= (p.Glu62=)
c.2378A=
c.5531A= (p.Glu1844=)
c.5657A= (p.Glu1886=)
c.5552A= (p.Glu1851=)
c.5504A= (p.Glu1835=)
c.5462A= (p.Glu1821=)
8g.132967830A>CCA372234057TGc.5723A>C (p.Glu1908Ala)
c.118A>C
c.1089A>C
c.185A>C (p.Glu62Ala)
c.2378A>C
c.5531A>C (p.Glu1844Ala)
c.5657A>C (p.Glu1886Ala)
c.5552A>C (p.Glu1851Ala)
c.5504A>C (p.Glu1835Ala)
c.5462A>C (p.Glu1821Ala)
 dbSNP
8g.132967830A>GCA372234056TGc.5723A>G (p.Glu1908Gly)
c.118A>G
c.1089A>G
c.185A>G (p.Glu62Gly)
c.2378A>G
c.5531A>G (p.Glu1844Gly)
c.5657A>G (p.Glu1886Gly)
c.5552A>G (p.Glu1851Gly)
c.5504A>G (p.Glu1835Gly)
c.5462A>G (p.Glu1821Gly)
8g.132967830A>TCA372234055TGc.5723A>T (p.Glu1908Val)
c.118A>T
c.1089A>T
c.185A>T (p.Glu62Val)
c.2378A>T
c.5531A>T (p.Glu1844Val)
c.5657A>T (p.Glu1886Val)
c.5552A>T (p.Glu1851Val)
c.5504A>T (p.Glu1835Val)
c.5462A>T (p.Glu1821Val)
8g.132967831G>ACA463012511TGc.5724G>A (p.Glu1908=)
c.119G>A
c.1090G>A
c.186G>A (p.Glu62=)
c.2379G>A
c.5532G>A (p.Glu1844=)
c.5658G>A (p.Glu1886=)
c.5553G>A (p.Glu1851=)
c.5505G>A (p.Glu1835=)
c.5463G>A (p.Glu1821=)
 gnomAD v4
8g.132967831G>CCA372234058TGc.5724G>C (p.Glu1908Asp)
c.119G>C
c.1090G>C
c.186G>C (p.Glu62Asp)
c.2379G>C
c.5532G>C (p.Glu1844Asp)
c.5658G>C (p.Glu1886Asp)
c.5553G>C (p.Glu1851Asp)
c.5505G>C (p.Glu1835Asp)
c.5463G>C (p.Glu1821Asp)
8g.132967831G>TCA372234059TGc.5724G>T (p.Glu1908Asp)
c.119G>T
c.1090G>T
c.186G>T (p.Glu62Asp)
c.2379G>T
c.5532G>T (p.Glu1844Asp)
c.5658G>T (p.Glu1886Asp)
c.5553G>T (p.Glu1851Asp)
c.5505G>T (p.Glu1835Asp)
c.5463G>T (p.Glu1821Asp)
8g.132967832A=CA1821000917TGc.5725A= (p.Ile1909=)
c.120A=
c.1091A=
c.187A= (p.Ile63=)
c.2380A=
c.5533A= (p.Ile1845=)
c.5659A= (p.Ile1887=)
c.5554A= (p.Ile1852=)
c.5506A= (p.Ile1836=)
c.5464A= (p.Ile1822=)
8g.132967832A>CCA372234060TGc.5725A>C (p.Ile1909Leu)
c.120A>C
c.1091A>C
c.187A>C (p.Ile63Leu)
c.2380A>C
c.5533A>C (p.Ile1845Leu)
c.5659A>C (p.Ile1887Leu)
c.5554A>C (p.Ile1852Leu)
c.5506A>C (p.Ile1836Leu)
c.5464A>C (p.Ile1822Leu)
8g.132967832A>GCA186291894TGc.5725A>G (p.Ile1909Val)
c.120A>G
c.1091A>G
c.187A>G (p.Ile63Val)
c.2380A>G
c.5533A>G (p.Ile1845Val)
c.5659A>G (p.Ile1887Val)
c.5554A>G (p.Ile1852Val)
c.5506A>G (p.Ile1836Val)
c.5464A>G (p.Ile1822Val)
 dbSNP gnomAD v4
8g.132967832A>TCA372234061TGc.5725A>T (p.Ile1909Leu)
c.120A>T
c.1091A>T
c.187A>T (p.Ile63Leu)
c.2380A>T
c.5533A>T (p.Ile1845Leu)
c.5659A>T (p.Ile1887Leu)
c.5554A>T (p.Ile1852Leu)
c.5506A>T (p.Ile1836Leu)
c.5464A>T (p.Ile1822Leu)
8g.132967833T>ACA372234062TGc.5726T>A (p.Ile1909Lys)
c.121T>A
c.1092T>A
c.188T>A (p.Ile63Lys)
c.2381T>A
c.5534T>A (p.Ile1845Lys)
c.5660T>A (p.Ile1887Lys)
c.5555T>A (p.Ile1852Lys)
c.5507T>A (p.Ile1836Lys)
c.5465T>A (p.Ile1822Lys)
8g.132967833T>CCA372234063TGc.5726T>C (p.Ile1909Thr)
c.121T>C
c.1092T>C
c.188T>C (p.Ile63Thr)
c.2381T>C
c.5534T>C (p.Ile1845Thr)
c.5660T>C (p.Ile1887Thr)
c.5555T>C (p.Ile1852Thr)
c.5507T>C (p.Ile1836Thr)
c.5465T>C (p.Ile1822Thr)
8g.132967833T>GCA372234064TGc.5726T>G (p.Ile1909Arg)
c.121T>G
c.1092T>G
c.188T>G (p.Ile63Arg)
c.2381T>G
c.5534T>G (p.Ile1845Arg)
c.5660T>G (p.Ile1887Arg)
c.5555T>G (p.Ile1852Arg)
c.5507T>G (p.Ile1836Arg)
c.5465T>G (p.Ile1822Arg)
8g.132967834A>CCA463012513TGc.5727A>C (p.Ile1909=)
c.122A>C
c.1093A>C
c.189A>C (p.Ile63=)
c.2382A>C
c.5535A>C (p.Ile1845=)
c.5661A>C (p.Ile1887=)
c.5556A>C (p.Ile1852=)
c.5508A>C (p.Ile1836=)
c.5466A>C (p.Ile1822=)
8g.132967834A>GCA372234065TGc.5727A>G (p.Ile1909Met)
c.122A>G
c.1093A>G
c.189A>G (p.Ile63Met)
c.2382A>G
c.5535A>G (p.Ile1845Met)
c.5661A>G (p.Ile1887Met)
c.5556A>G (p.Ile1852Met)
c.5508A>G (p.Ile1836Met)
c.5466A>G (p.Ile1822Met)
 gnomAD v4
8g.132967834A>TCA463012514TGc.5727A>T (p.Ile1909=)
c.122A>T
c.1093A>T
c.189A>T (p.Ile63=)
c.2382A>T
c.5535A>T (p.Ile1845=)
c.5661A>T (p.Ile1887=)
c.5556A>T (p.Ile1852=)
c.5508A>T (p.Ile1836=)
c.5466A>T (p.Ile1822=)
8g.132967835delCA2688653243TGc.5728del (p.Thr1910GlnfsTer?)
c.123del
c.1094del
c.190del (p.Thr64GlnfsTer?)
c.2383del
c.5536del (p.Thr1846GlnfsTer?)
c.5662del (p.Thr1888GlnfsTer?)
c.5557del (p.Thr1853GlnfsTer?)
c.5509del (p.Thr1837GlnfsTer?)
c.5467del (p.Thr1823GlnfsTer?)
 gnomAD v4
8g.132967835A>CCA372234066TGc.5728A>C (p.Thr1910Pro)
c.123A>C
c.1094A>C
c.190A>C (p.Thr64Pro)
c.2383A>C
c.5536A>C (p.Thr1846Pro)
c.5662A>C (p.Thr1888Pro)
c.5557A>C (p.Thr1853Pro)
c.5509A>C (p.Thr1837Pro)
c.5467A>C (p.Thr1823Pro)
8g.132967835A>GCA372234067TGc.5728A>G (p.Thr1910Ala)
c.123A>G
c.1094A>G
c.190A>G (p.Thr64Ala)
c.2383A>G
c.5536A>G (p.Thr1846Ala)
c.5662A>G (p.Thr1888Ala)
c.5557A>G (p.Thr1853Ala)
c.5509A>G (p.Thr1837Ala)
c.5467A>G (p.Thr1823Ala)
 gnomAD v4
8g.132967835A>TCA372234068TGc.5728A>T (p.Thr1910Ser)
c.123A>T
c.1094A>T
c.190A>T (p.Thr64Ser)
c.2383A>T
c.5536A>T (p.Thr1846Ser)
c.5662A>T (p.Thr1888Ser)
c.5557A>T (p.Thr1853Ser)
c.5509A>T (p.Thr1837Ser)
c.5467A>T (p.Thr1823Ser)
8g.132967836_132967837delCA2695200112TGc.5729_5730del (p.Thr1910ArgfsTer19)
c.124_125del
c.1095_1096del
c.191_192del (p.Thr64ArgfsTer19)
c.2384_2385del
c.5537_5538del (p.Thr1846ArgfsTer19)
c.5663_5664del (p.Thr1888ArgfsTer19)
c.5558_5559del (p.Thr1853ArgfsTer19)
c.5510_5511del (p.Thr1837ArgfsTer19)
c.5468_5469del (p.Thr1823ArgfsTer19)
 ClinVar
8g.132967836C>ACA372234069TGc.5729C>A (p.Thr1910Lys)
c.124C>A
c.1095C>A
c.191C>A (p.Thr64Lys)
c.2384C>A
c.5537C>A (p.Thr1846Lys)
c.5663C>A (p.Thr1888Lys)
c.5558C>A (p.Thr1853Lys)
c.5510C>A (p.Thr1837Lys)
c.5468C>A (p.Thr1823Lys)
8g.132967836C=CA1821000920TGc.5729C= (p.Thr1910=)
c.124C=
c.1095C=
c.191C= (p.Thr64=)
c.2384C=
c.5537C= (p.Thr1846=)
c.5663C= (p.Thr1888=)
c.5558C= (p.Thr1853=)
c.5510C= (p.Thr1837=)
c.5468C= (p.Thr1823=)
8g.132967836C>GCA372234070TGc.5729C>G (p.Thr1910Arg)
c.124C>G
c.1095C>G
c.191C>G (p.Thr64Arg)
c.2384C>G
c.5537C>G (p.Thr1846Arg)
c.5663C>G (p.Thr1888Arg)
c.5558C>G (p.Thr1853Arg)
c.5510C>G (p.Thr1837Arg)
c.5468C>G (p.Thr1823Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
8g.132967836C>TCA372234071TGc.5729C>T (p.Thr1910Ile)
c.124C>T
c.1095C>T
c.191C>T (p.Thr64Ile)
c.2384C>T
c.5537C>T (p.Thr1846Ile)
c.5663C>T (p.Thr1888Ile)
c.5558C>T (p.Thr1853Ile)
c.5510C>T (p.Thr1837Ile)
c.5468C>T (p.Thr1823Ile)
 dbSNP
8g.132967837A=CA1821000923TGc.5730A= (p.Thr1910=)
c.125A=
c.1096A=
c.192A= (p.Thr64=)
c.2385A=
c.5538A= (p.Thr1846=)
c.5664A= (p.Thr1888=)
c.5559A= (p.Thr1853=)
c.5511A= (p.Thr1837=)
c.5469A= (p.Thr1823=)
8g.132967837A>CCA463012515TGc.5730A>C (p.Thr1910=)
c.125A>C
c.1096A>C
c.192A>C (p.Thr64=)
c.2385A>C
c.5538A>C (p.Thr1846=)
c.5664A>C (p.Thr1888=)
c.5559A>C (p.Thr1853=)
c.5511A>C (p.Thr1837=)
c.5469A>C (p.Thr1823=)
8g.132967837A>GCA463012517TGc.5730A>G (p.Thr1910=)
c.125A>G
c.1096A>G
c.192A>G (p.Thr64=)
c.2385A>G
c.5538A>G (p.Thr1846=)
c.5664A>G (p.Thr1888=)
c.5559A>G (p.Thr1853=)
c.5511A>G (p.Thr1837=)
c.5469A>G (p.Thr1823=)
 dbSNP
8g.132967837A>TCA463012520TGc.5730A>T (p.Thr1910=)
c.125A>T
c.1096A>T
c.192A>T (p.Thr64=)
c.2385A>T
c.5538A>T (p.Thr1846=)
c.5664A>T (p.Thr1888=)
c.5559A>T (p.Thr1853=)
c.5511A>T (p.Thr1837=)
c.5469A>T (p.Thr1823=)
8g.132967838G>ACA372234072TGc.5731G>A (p.Glu1911Lys)
c.126G>A
c.1097G>A
c.193G>A (p.Glu65Lys)
c.2386G>A
c.5539G>A (p.Glu1847Lys)
c.5665G>A (p.Glu1889Lys)
c.5560G>A (p.Glu1854Lys)
c.5512G>A (p.Glu1838Lys)
c.5470G>A (p.Glu1824Lys)
 gnomAD v4
8g.132967838G>CCA372234073TGc.5731G>C (p.Glu1911Gln)
c.126G>C
c.1097G>C
c.193G>C (p.Glu65Gln)
c.2386G>C
c.5539G>C (p.Glu1847Gln)
c.5665G>C (p.Glu1889Gln)
c.5560G>C (p.Glu1854Gln)
c.5512G>C (p.Glu1838Gln)
c.5470G>C (p.Glu1824Gln)
8g.132967838G>TCA372234074TGc.5731G>T (p.Glu1911Ter)
c.126G>T
c.1097G>T
c.193G>T (p.Glu65Ter)
c.2386G>T
c.5539G>T (p.Glu1847Ter)
c.5665G>T (p.Glu1889Ter)
c.5560G>T (p.Glu1854Ter)
c.5512G>T (p.Glu1838Ter)
c.5470G>T (p.Glu1824Ter)
8g.132967839A=CA1821000925TGc.5732A= (p.Glu1911=)
c.127A=
c.1098A=
c.194A= (p.Glu65=)
c.2387A=
c.5540A= (p.Glu1847=)
c.5666A= (p.Glu1889=)
c.5561A= (p.Glu1854=)
c.5513A= (p.Glu1838=)
c.5471A= (p.Glu1824=)
8g.132967839A>CCA372234075TGc.5732A>C (p.Glu1911Ala)
c.127A>C
c.1098A>C
c.194A>C (p.Glu65Ala)
c.2387A>C
c.5540A>C (p.Glu1847Ala)
c.5666A>C (p.Glu1889Ala)
c.5561A>C (p.Glu1854Ala)
c.5513A>C (p.Glu1838Ala)
c.5471A>C (p.Glu1824Ala)
8g.132967839A>GCA372234077TGc.5732A>G (p.Glu1911Gly)
c.127A>G
c.1098A>G
c.194A>G (p.Glu65Gly)
c.2387A>G
c.5540A>G (p.Glu1847Gly)
c.5666A>G (p.Glu1889Gly)
c.5561A>G (p.Glu1854Gly)
c.5513A>G (p.Glu1838Gly)
c.5471A>G (p.Glu1824Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.132967839A>TCA372234076TGc.5732A>T (p.Glu1911Val)
c.127A>T
c.1098A>T
c.194A>T (p.Glu65Val)
c.2387A>T
c.5540A>T (p.Glu1847Val)
c.5666A>T (p.Glu1889Val)
c.5561A>T (p.Glu1854Val)
c.5513A>T (p.Glu1838Val)
c.5471A>T (p.Glu1824Val)
8g.132967840G>ACA463012522TGc.5733G>A (p.Glu1911=)
c.128G>A
c.1099G>A
c.195G>A (p.Glu65=)
c.2388G>A
c.5541G>A (p.Glu1847=)
c.5667G>A (p.Glu1889=)
c.5562G>A (p.Glu1854=)
c.5514G>A (p.Glu1838=)
c.5472G>A (p.Glu1824=)
8g.132967840G>CCA372234078TGc.5733G>C (p.Glu1911Asp)
c.128G>C
c.1099G>C
c.195G>C (p.Glu65Asp)
c.2388G>C
c.5541G>C (p.Glu1847Asp)
c.5667G>C (p.Glu1889Asp)
c.5562G>C (p.Glu1854Asp)
c.5514G>C (p.Glu1838Asp)
c.5472G>C (p.Glu1824Asp)
8g.132967840G>TCA372234079TGc.5733G>T (p.Glu1911Asp)
c.128G>T
c.1099G>T
c.195G>T (p.Glu65Asp)
c.2388G>T
c.5541G>T (p.Glu1847Asp)
c.5667G>T (p.Glu1889Asp)
c.5562G>T (p.Glu1854Asp)
c.5514G>T (p.Glu1838Asp)
c.5472G>T (p.Glu1824Asp)
8g.132967841A>CCA372234080TGc.5734A>C (p.Ser1912Arg)
c.129A>C
c.1100A>C
c.196A>C (p.Ser66Arg)
c.2389A>C
c.5542A>C (p.Ser1848Arg)
c.5668A>C (p.Ser1890Arg)
c.5563A>C (p.Ser1855Arg)
c.5515A>C (p.Ser1839Arg)
c.5473A>C (p.Ser1825Arg)
8g.132967841A>GCA372234081TGc.5734A>G (p.Ser1912Gly)
c.129A>G
c.1100A>G
c.196A>G (p.Ser66Gly)
c.2389A>G
c.5542A>G (p.Ser1848Gly)
c.5668A>G (p.Ser1890Gly)
c.5563A>G (p.Ser1855Gly)
c.5515A>G (p.Ser1839Gly)
c.5473A>G (p.Ser1825Gly)
8g.132967841A>TCA372234082TGc.5734A>T (p.Ser1912Cys)
c.129A>T
c.1100A>T
c.196A>T (p.Ser66Cys)
c.2389A>T
c.5542A>T (p.Ser1848Cys)
c.5668A>T (p.Ser1890Cys)
c.5563A>T (p.Ser1855Cys)
c.5515A>T (p.Ser1839Cys)
c.5473A>T (p.Ser1825Cys)
8g.132967842G>ACA4884611TGc.5735G>A (p.Ser1912Asn)
c.130G>A
c.1101G>A
c.197G>A (p.Ser66Asn)
c.2390G>A
c.5543G>A (p.Ser1848Asn)
c.5669G>A (p.Ser1890Asn)
c.5564G>A (p.Ser1855Asn)
c.5516G>A (p.Ser1839Asn)
c.5474G>A (p.Ser1825Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967842G>CCA372234083TGc.5735G>C (p.Ser1912Thr)
c.130G>C
c.1101G>C
c.197G>C (p.Ser66Thr)
c.2390G>C
c.5543G>C (p.Ser1848Thr)
c.5669G>C (p.Ser1890Thr)
c.5564G>C (p.Ser1855Thr)
c.5516G>C (p.Ser1839Thr)
c.5474G>C (p.Ser1825Thr)
 gnomAD v4
8g.132967842G=CA1821000926TGc.5735G= (p.Ser1912=)
c.130G=
c.1101G=
c.197G= (p.Ser66=)
c.2390G=
c.5543G= (p.Ser1848=)
c.5669G= (p.Ser1890=)
c.5564G= (p.Ser1855=)
c.5516G= (p.Ser1839=)
c.5474G= (p.Ser1825=)
8g.132967842G>TCA372234084TGc.5735G>T (p.Ser1912Ile)
c.130G>T
c.1101G>T
c.197G>T (p.Ser66Ile)
c.2390G>T
c.5543G>T (p.Ser1848Ile)
c.5669G>T (p.Ser1890Ile)
c.5564G>T (p.Ser1855Ile)
c.5516G>T (p.Ser1839Ile)
c.5474G>T (p.Ser1825Ile)
8g.132967843T>ACA372234085TGc.5736T>A (p.Ser1912Arg)
c.131T>A
c.1102T>A
c.198T>A (p.Ser66Arg)
c.2391T>A
c.5544T>A (p.Ser1848Arg)
c.5670T>A (p.Ser1890Arg)
c.5565T>A (p.Ser1855Arg)
c.5517T>A (p.Ser1839Arg)
c.5475T>A (p.Ser1825Arg)
8g.132967843T>CCA463012523TGc.5736T>C (p.Ser1912=)
c.131T>C
c.1102T>C
c.198T>C (p.Ser66=)
c.2391T>C
c.5544T>C (p.Ser1848=)
c.5670T>C (p.Ser1890=)
c.5565T>C (p.Ser1855=)
c.5517T>C (p.Ser1839=)
c.5475T>C (p.Ser1825=)
 dbSNP gnomAD v3 gnomAD v4
8g.132967843T>GCA372234086TGc.5736T>G (p.Ser1912Arg)
c.131T>G
c.1102T>G
c.198T>G (p.Ser66Arg)
c.2391T>G
c.5544T>G (p.Ser1848Arg)
c.5670T>G (p.Ser1890Arg)
c.5565T>G (p.Ser1855Arg)
c.5517T>G (p.Ser1839Arg)
c.5475T>G (p.Ser1825Arg)
 dbSNP gnomAD v3 gnomAD v4
8g.132967843T=CA1821000928TGc.5736T= (p.Ser1912=)
c.131T=
c.1102T=
c.198T= (p.Ser66=)
c.2391T=
c.5544T= (p.Ser1848=)
c.5670T= (p.Ser1890=)
c.5565T= (p.Ser1855=)
c.5517T= (p.Ser1839=)
c.5475T= (p.Ser1825=)
8g.132967844G>ACA4884612TGc.5737G>A (p.Ala1913Thr)
c.132G>A
c.1103G>A
c.199G>A (p.Ala67Thr)
c.2392G>A
c.5545G>A (p.Ala1849Thr)
c.5671G>A (p.Ala1891Thr)
c.5566G>A (p.Ala1856Thr)
c.5518G>A (p.Ala1840Thr)
c.5476G>A (p.Ala1826Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967844G>CCA372234088TGc.5737G>C (p.Ala1913Pro)
c.132G>C
c.1103G>C
c.199G>C (p.Ala67Pro)
c.2392G>C
c.5545G>C (p.Ala1849Pro)
c.5671G>C (p.Ala1891Pro)
c.5566G>C (p.Ala1856Pro)
c.5518G>C (p.Ala1840Pro)
c.5476G>C (p.Ala1826Pro)
8g.132967844G=CA1821000933TGc.5737G= (p.Ala1913=)
c.132G=
c.1103G=
c.199G= (p.Ala67=)
c.2392G=
c.5545G= (p.Ala1849=)
c.5671G= (p.Ala1891=)
c.5566G= (p.Ala1856=)
c.5518G= (p.Ala1840=)
c.5476G= (p.Ala1826=)
8g.132967844G>TCA372234087TGc.5737G>T (p.Ala1913Ser)
c.132G>T
c.1103G>T
c.199G>T (p.Ala67Ser)
c.2392G>T
c.5545G>T (p.Ala1849Ser)
c.5671G>T (p.Ala1891Ser)
c.5566G>T (p.Ala1856Ser)
c.5518G>T (p.Ala1840Ser)
c.5476G>T (p.Ala1826Ser)
8g.132967845C>ACA372234089TGc.5738C>A (p.Ala1913Glu)
c.133C>A
c.1104C>A
c.200C>A (p.Ala67Glu)
c.2393C>A
c.5546C>A (p.Ala1849Glu)
c.5672C>A (p.Ala1891Glu)
c.5567C>A (p.Ala1856Glu)
c.5519C>A (p.Ala1840Glu)
c.5477C>A (p.Ala1826Glu)
8g.132967845C=CA1821000936TGc.5738C= (p.Ala1913=)
c.133C=
c.1104C=
c.200C= (p.Ala67=)
c.2393C=
c.5546C= (p.Ala1849=)
c.5672C= (p.Ala1891=)
c.5567C= (p.Ala1856=)
c.5519C= (p.Ala1840=)
c.5477C= (p.Ala1826=)
8g.132967845C>GCA372234090TGc.5738C>G (p.Ala1913Gly)
c.133C>G
c.1104C>G
c.200C>G (p.Ala67Gly)
c.2393C>G
c.5546C>G (p.Ala1849Gly)
c.5672C>G (p.Ala1891Gly)
c.5567C>G (p.Ala1856Gly)
c.5519C>G (p.Ala1840Gly)
c.5477C>G (p.Ala1826Gly)
8g.132967845C>TCA372234091TGc.5738C>T (p.Ala1913Val)
c.133C>T
c.1104C>T
c.200C>T (p.Ala67Val)
c.2393C>T
c.5546C>T (p.Ala1849Val)
c.5672C>T (p.Ala1891Val)
c.5567C>T (p.Ala1856Val)
c.5519C>T (p.Ala1840Val)
c.5477C>T (p.Ala1826Val)
 dbSNP gnomAD v2 gnomAD v4
8g.132967846A>CCA463012524TGc.5739A>C (p.Ala1913=)
c.134A>C
c.1105A>C
c.201A>C (p.Ala67=)
c.2394A>C
c.5547A>C (p.Ala1849=)
c.5673A>C (p.Ala1891=)
c.5568A>C (p.Ala1856=)
c.5520A>C (p.Ala1840=)
c.5478A>C (p.Ala1826=)
8g.132967846A>GCA463012525TGc.5739A>G (p.Ala1913=)
c.134A>G
c.1105A>G
c.201A>G (p.Ala67=)
c.2394A>G
c.5547A>G (p.Ala1849=)
c.5673A>G (p.Ala1891=)
c.5568A>G (p.Ala1856=)
c.5520A>G (p.Ala1840=)
c.5478A>G (p.Ala1826=)
8g.132967846A>TCA463012526TGc.5739A>T (p.Ala1913=)
c.134A>T
c.1105A>T
c.201A>T (p.Ala67=)
c.2394A>T
c.5547A>T (p.Ala1849=)
c.5673A>T (p.Ala1891=)
c.5568A>T (p.Ala1856=)
c.5520A>T (p.Ala1840=)
c.5478A>T (p.Ala1826=)
8g.132967847T>ACA372234092TGc.5740T>A (p.Ser1914Thr)
c.135T>A
c.1106T>A
c.202T>A (p.Ser68Thr)
c.2395T>A
c.5548T>A (p.Ser1850Thr)
c.5674T>A (p.Ser1892Thr)
c.5569T>A (p.Ser1857Thr)
c.5521T>A (p.Ser1841Thr)
c.5479T>A (p.Ser1827Thr)
8g.132967847T>CCA372234093TGc.5740T>C (p.Ser1914Pro)
c.135T>C
c.1106T>C
c.202T>C (p.Ser68Pro)
c.2395T>C
c.5548T>C (p.Ser1850Pro)
c.5674T>C (p.Ser1892Pro)
c.5569T>C (p.Ser1857Pro)
c.5521T>C (p.Ser1841Pro)
c.5479T>C (p.Ser1827Pro)
8g.132967847T>GCA372234094TGc.5740T>G (p.Ser1914Ala)
c.135T>G
c.1106T>G
c.202T>G (p.Ser68Ala)
c.2395T>G
c.5548T>G (p.Ser1850Ala)
c.5674T>G (p.Ser1892Ala)
c.5569T>G (p.Ser1857Ala)
c.5521T>G (p.Ser1841Ala)
c.5479T>G (p.Ser1827Ala)
8g.132967848C>ACA372234095TGc.5741C>A (p.Ser1914Tyr)
c.136C>A
c.1107C>A
c.203C>A (p.Ser68Tyr)
c.2396C>A
c.5549C>A (p.Ser1850Tyr)
c.5675C>A (p.Ser1892Tyr)
c.5570C>A (p.Ser1857Tyr)
c.5522C>A (p.Ser1841Tyr)
c.5480C>A (p.Ser1827Tyr)
8g.132967848C=CA1821000937TGc.5741C= (p.Ser1914=)
c.136C=
c.1107C=
c.203C= (p.Ser68=)
c.2396C=
c.5549C= (p.Ser1850=)
c.5675C= (p.Ser1892=)
c.5570C= (p.Ser1857=)
c.5522C= (p.Ser1841=)
c.5480C= (p.Ser1827=)
8g.132967848C>GCA372234096TGc.5741C>G (p.Ser1914Cys)
c.136C>G
c.1107C>G
c.203C>G (p.Ser68Cys)
c.2396C>G
c.5549C>G (p.Ser1850Cys)
c.5675C>G (p.Ser1892Cys)
c.5570C>G (p.Ser1857Cys)
c.5522C>G (p.Ser1841Cys)
c.5480C>G (p.Ser1827Cys)
 dbSNP
8g.132967848C>TCA372234097TGc.5741C>T (p.Ser1914Phe)
c.136C>T
c.1107C>T
c.203C>T (p.Ser68Phe)
c.2396C>T
c.5549C>T (p.Ser1850Phe)
c.5675C>T (p.Ser1892Phe)
c.5570C>T (p.Ser1857Phe)
c.5522C>T (p.Ser1841Phe)
c.5480C>T (p.Ser1827Phe)
 gnomAD v4
8g.132967849C>ACA463012527TGc.5742C>A (p.Ser1914=)
c.137C>A
c.1108C>A
c.204C>A (p.Ser68=)
c.2397C>A
c.5550C>A (p.Ser1850=)
c.5676C>A (p.Ser1892=)
c.5571C>A (p.Ser1857=)
c.5523C>A (p.Ser1841=)
c.5481C>A (p.Ser1827=)
 gnomAD v4
8g.132967849C>GCA463012528TGc.5742C>G (p.Ser1914=)
c.137C>G
c.1108C>G
c.204C>G (p.Ser68=)
c.2397C>G
c.5550C>G (p.Ser1850=)
c.5676C>G (p.Ser1892=)
c.5571C>G (p.Ser1857=)
c.5523C>G (p.Ser1841=)
c.5481C>G (p.Ser1827=)
8g.132967849C>TCA463012529TGc.5742C>T (p.Ser1914=)
c.137C>T
c.1108C>T
c.204C>T (p.Ser68=)
c.2397C>T
c.5550C>T (p.Ser1850=)
c.5676C>T (p.Ser1892=)
c.5571C>T (p.Ser1857=)
c.5523C>T (p.Ser1841=)
c.5481C>T (p.Ser1827=)
8g.132967850T>ACA372234098TGc.5743T>A (p.Leu1915Met)
c.138T>A
c.1109T>A
c.205T>A (p.Leu69Met)
c.2398T>A
c.5551T>A (p.Leu1851Met)
c.5677T>A (p.Leu1893Met)
c.5572T>A (p.Leu1858Met)
c.5524T>A (p.Leu1842Met)
c.5482T>A (p.Leu1828Met)
8g.132967850T>CCA463012530TGc.5743T>C (p.Leu1915=)
c.138T>C
c.1109T>C
c.205T>C (p.Leu69=)
c.2398T>C
c.5551T>C (p.Leu1851=)
c.5677T>C (p.Leu1893=)
c.5572T>C (p.Leu1858=)
c.5524T>C (p.Leu1842=)
c.5482T>C (p.Leu1828=)
8g.132967850T>GCA372234099TGc.5743T>G (p.Leu1915Val)
c.138T>G
c.1109T>G
c.205T>G (p.Leu69Val)
c.2398T>G
c.5551T>G (p.Leu1851Val)
c.5677T>G (p.Leu1893Val)
c.5572T>G (p.Leu1858Val)
c.5524T>G (p.Leu1842Val)
c.5482T>G (p.Leu1828Val)
8g.132967851T>ACA372234100TGc.5744T>A (p.Leu1915Ter)
c.139T>A
c.1110T>A
c.206T>A (p.Leu69Ter)
c.2399T>A
c.5552T>A (p.Leu1851Ter)
c.5678T>A (p.Leu1893Ter)
c.5573T>A (p.Leu1858Ter)
c.5525T>A (p.Leu1842Ter)
c.5483T>A (p.Leu1828Ter)
8g.132967851T>CCA372234101TGc.5744T>C (p.Leu1915Ser)
c.139T>C
c.1110T>C
c.206T>C (p.Leu69Ser)
c.2399T>C
c.5552T>C (p.Leu1851Ser)
c.5678T>C (p.Leu1893Ser)
c.5573T>C (p.Leu1858Ser)
c.5525T>C (p.Leu1842Ser)
c.5483T>C (p.Leu1828Ser)
8g.132967851T>GCA372234102TGc.5744T>G (p.Leu1915Trp)
c.139T>G
c.1110T>G
c.206T>G (p.Leu69Trp)
c.2399T>G
c.5552T>G (p.Leu1851Trp)
c.5678T>G (p.Leu1893Trp)
c.5573T>G (p.Leu1858Trp)
c.5525T>G (p.Leu1842Trp)
c.5483T>G (p.Leu1828Trp)
8g.132967852G>ACA463012531TGc.5745G>A (p.Leu1915=)
c.140G>A
c.1111G>A
c.207G>A (p.Leu69=)
c.2400G>A
c.5553G>A (p.Leu1851=)
c.5679G>A (p.Leu1893=)
c.5574G>A (p.Leu1858=)
c.5526G>A (p.Leu1842=)
c.5484G>A (p.Leu1828=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
8g.132967852G>CCA372234103TGc.5745G>C (p.Leu1915Phe)
c.140G>C
c.1111G>C
c.207G>C (p.Leu69Phe)
c.2400G>C
c.5553G>C (p.Leu1851Phe)
c.5679G>C (p.Leu1893Phe)
c.5574G>C (p.Leu1858Phe)
c.5526G>C (p.Leu1842Phe)
c.5484G>C (p.Leu1828Phe)
8g.132967852G=CA1821000939TGc.5745G= (p.Leu1915=)
c.140G=
c.1111G=
c.207G= (p.Leu69=)
c.2400G=
c.5553G= (p.Leu1851=)
c.5679G= (p.Leu1893=)
c.5574G= (p.Leu1858=)
c.5526G= (p.Leu1842=)
c.5484G= (p.Leu1828=)
8g.132967852G>TCA372234104TGc.5745G>T (p.Leu1915Phe)
c.140G>T
c.1111G>T
c.207G>T (p.Leu69Phe)
c.2400G>T
c.5553G>T (p.Leu1851Phe)
c.5679G>T (p.Leu1893Phe)
c.5574G>T (p.Leu1858Phe)
c.5526G>T (p.Leu1842Phe)
c.5484G>T (p.Leu1828Phe)
 gnomAD v4
8g.132967853T>ACA372234105TGc.5746T>A (p.Tyr1916Asn)
c.141T>A
c.1112T>A
c.208T>A (p.Tyr70Asn)
c.2401T>A
c.5554T>A (p.Tyr1852Asn)
c.5680T>A (p.Tyr1894Asn)
c.5575T>A (p.Tyr1859Asn)
c.5527T>A (p.Tyr1843Asn)
c.5485T>A (p.Tyr1829Asn)
8g.132967853T>CCA372234106TGc.5746T>C (p.Tyr1916His)
c.141T>C
c.1112T>C
c.208T>C (p.Tyr70His)
c.2401T>C
c.5554T>C (p.Tyr1852His)
c.5680T>C (p.Tyr1894His)
c.5575T>C (p.Tyr1859His)
c.5527T>C (p.Tyr1843His)
c.5485T>C (p.Tyr1829His)
 gnomAD v4
8g.132967853T>GCA372234107TGc.5746T>G (p.Tyr1916Asp)
c.141T>G
c.1112T>G
c.208T>G (p.Tyr70Asp)
c.2401T>G
c.5554T>G (p.Tyr1852Asp)
c.5680T>G (p.Tyr1894Asp)
c.5575T>G (p.Tyr1859Asp)
c.5527T>G (p.Tyr1843Asp)
c.5485T>G (p.Tyr1829Asp)
8g.132967854A=CA1821000943TGc.5747A= (p.Tyr1916=)
c.142A=
c.1113A=
c.209A= (p.Tyr70=)
c.2402A=
c.5555A= (p.Tyr1852=)
c.5681A= (p.Tyr1894=)
c.5576A= (p.Tyr1859=)
c.5528A= (p.Tyr1843=)
c.5486A= (p.Tyr1829=)
8g.132967854A>CCA372234108TGc.5747A>C (p.Tyr1916Ser)
c.142A>C
c.1113A>C
c.209A>C (p.Tyr70Ser)
c.2402A>C
c.5555A>C (p.Tyr1852Ser)
c.5681A>C (p.Tyr1894Ser)
c.5576A>C (p.Tyr1859Ser)
c.5528A>C (p.Tyr1843Ser)
c.5486A>C (p.Tyr1829Ser)
8g.132967854A>GCA4884613TGc.5747A>G (p.Tyr1916Cys)
c.142A>G
c.1113A>G
c.209A>G (p.Tyr70Cys)
c.2402A>G
c.5555A>G (p.Tyr1852Cys)
c.5681A>G (p.Tyr1894Cys)
c.5576A>G (p.Tyr1859Cys)
c.5528A>G (p.Tyr1843Cys)
c.5486A>G (p.Tyr1829Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967854A>TCA372234109TGc.5747A>T (p.Tyr1916Phe)
c.142A>T
c.1113A>T
c.209A>T (p.Tyr70Phe)
c.2402A>T
c.5555A>T (p.Tyr1852Phe)
c.5681A>T (p.Tyr1894Phe)
c.5576A>T (p.Tyr1859Phe)
c.5528A>T (p.Tyr1843Phe)
c.5486A>T (p.Tyr1829Phe)
8g.132967855C>ACA372234110TGc.5748C>A (p.Tyr1916Ter)
c.143C>A
c.1114C>A
c.210C>A (p.Tyr70Ter)
c.2403C>A
c.5556C>A (p.Tyr1852Ter)
c.5682C>A (p.Tyr1894Ter)
c.5577C>A (p.Tyr1859Ter)
c.5529C>A (p.Tyr1843Ter)
c.5487C>A (p.Tyr1829Ter)
8g.132967855C>GCA372234111TGc.5748C>G (p.Tyr1916Ter)
c.143C>G
c.1114C>G
c.210C>G (p.Tyr70Ter)
c.2403C>G
c.5556C>G (p.Tyr1852Ter)
c.5682C>G (p.Tyr1894Ter)
c.5577C>G (p.Tyr1859Ter)
c.5529C>G (p.Tyr1843Ter)
c.5487C>G (p.Tyr1829Ter)
8g.132967855C>TCA463012532TGc.5748C>T (p.Tyr1916=)
c.143C>T
c.1114C>T
c.210C>T (p.Tyr70=)
c.2403C>T
c.5556C>T (p.Tyr1852=)
c.5682C>T (p.Tyr1894=)
c.5577C>T (p.Tyr1859=)
c.5529C>T (p.Tyr1843=)
c.5487C>T (p.Tyr1829=)
8g.132967856T>ACA372234112TGc.5749T>A (p.Phe1917Ile)
c.144T>A
c.1115T>A
c.211T>A (p.Phe71Ile)
c.2404T>A
c.5557T>A (p.Phe1853Ile)
c.5683T>A (p.Phe1895Ile)
c.5578T>A (p.Phe1860Ile)
c.5530T>A (p.Phe1844Ile)
c.5488T>A (p.Phe1830Ile)
 gnomAD v4
8g.132967856T>CCA372234113TGc.5749T>C (p.Phe1917Leu)
c.144T>C
c.1115T>C
c.211T>C (p.Phe71Leu)
c.2404T>C
c.5557T>C (p.Phe1853Leu)
c.5683T>C (p.Phe1895Leu)
c.5578T>C (p.Phe1860Leu)
c.5530T>C (p.Phe1844Leu)
c.5488T>C (p.Phe1830Leu)
 dbSNP gnomAD v2 gnomAD v4
8g.132967856T>GCA372234114TGc.5749T>G (p.Phe1917Val)
c.144T>G
c.1115T>G
c.211T>G (p.Phe71Val)
c.2404T>G
c.5557T>G (p.Phe1853Val)
c.5683T>G (p.Phe1895Val)
c.5578T>G (p.Phe1860Val)
c.5530T>G (p.Phe1844Val)
c.5488T>G (p.Phe1830Val)
8g.132967856T=CA1821000947TGc.5749T= (p.Phe1917=)
c.144T=
c.1115T=
c.211T= (p.Phe71=)
c.2404T=
c.5557T= (p.Phe1853=)
c.5683T= (p.Phe1895=)
c.5578T= (p.Phe1860=)
c.5530T= (p.Phe1844=)
c.5488T= (p.Phe1830=)
8g.132967857T>ACA372234117TGc.5750T>A (p.Phe1917Tyr)
c.145T>A
c.1116T>A
c.212T>A (p.Phe71Tyr)
c.2405T>A
c.5558T>A (p.Phe1853Tyr)
c.5684T>A (p.Phe1895Tyr)
c.5579T>A (p.Phe1860Tyr)
c.5531T>A (p.Phe1844Tyr)
c.5489T>A (p.Phe1830Tyr)
8g.132967857T>CCA372234116TGc.5750T>C (p.Phe1917Ser)
c.145T>C
c.1116T>C
c.212T>C (p.Phe71Ser)
c.2405T>C
c.5558T>C (p.Phe1853Ser)
c.5684T>C (p.Phe1895Ser)
c.5579T>C (p.Phe1860Ser)
c.5531T>C (p.Phe1844Ser)
c.5489T>C (p.Phe1830Ser)
8g.132967857T>GCA372234115TGc.5750T>G (p.Phe1917Cys)
c.145T>G
c.1116T>G
c.212T>G (p.Phe71Cys)
c.2405T>G
c.5558T>G (p.Phe1853Cys)
c.5684T>G (p.Phe1895Cys)
c.5579T>G (p.Phe1860Cys)
c.5531T>G (p.Phe1844Cys)
c.5489T>G (p.Phe1830Cys)
8g.132967858C>ACA372234118TGc.5751C>A (p.Phe1917Leu)
c.146C>A
c.1117C>A
c.213C>A (p.Phe71Leu)
c.2406C>A
c.5559C>A (p.Phe1853Leu)
c.5685C>A (p.Phe1895Leu)
c.5580C>A (p.Phe1860Leu)
c.5532C>A (p.Phe1844Leu)
c.5490C>A (p.Phe1830Leu)
8g.132967858C=CA1821000949TGc.5751C= (p.Phe1917=)
c.146C=
c.1117C=
c.213C= (p.Phe71=)
c.2406C=
c.5559C= (p.Phe1853=)
c.5685C= (p.Phe1895=)
c.5580C= (p.Phe1860=)
c.5532C= (p.Phe1844=)
c.5490C= (p.Phe1830=)
8g.132967858C>GCA372234119TGc.5751C>G (p.Phe1917Leu)
c.146C>G
c.1117C>G
c.213C>G (p.Phe71Leu)
c.2406C>G
c.5559C>G (p.Phe1853Leu)
c.5685C>G (p.Phe1895Leu)
c.5580C>G (p.Phe1860Leu)
c.5532C>G (p.Phe1844Leu)
c.5490C>G (p.Phe1830Leu)
8g.132967858C>TCA4884614TGc.5751C>T (p.Phe1917=)
c.146C>T
c.1117C>T
c.213C>T (p.Phe71=)
c.2406C>T
c.5559C>T (p.Phe1853=)
c.5685C>T (p.Phe1895=)
c.5580C>T (p.Phe1860=)
c.5532C>T (p.Phe1844=)
c.5490C>T (p.Phe1830=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967859A=CA1821000954TGc.5752A= (p.Thr1918=)
c.147A=
c.1118A=
c.214A= (p.Thr72=)
c.2407A=
c.5560A= (p.Thr1854=)
c.5686A= (p.Thr1896=)
c.5581A= (p.Thr1861=)
c.5533A= (p.Thr1845=)
c.5491A= (p.Thr1831=)
8g.132967859A>CCA4884615TGc.5752A>C (p.Thr1918Pro)
c.147A>C
c.1118A>C
c.214A>C (p.Thr72Pro)
c.2407A>C
c.5560A>C (p.Thr1854Pro)
c.5686A>C (p.Thr1896Pro)
c.5581A>C (p.Thr1861Pro)
c.5533A>C (p.Thr1845Pro)
c.5491A>C (p.Thr1831Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967859A>GCA372234120TGc.5752A>G (p.Thr1918Ala)
c.147A>G
c.1118A>G
c.214A>G (p.Thr72Ala)
c.2407A>G
c.5560A>G (p.Thr1854Ala)
c.5686A>G (p.Thr1896Ala)
c.5581A>G (p.Thr1861Ala)
c.5533A>G (p.Thr1845Ala)
c.5491A>G (p.Thr1831Ala)
8g.132967859A>TCA372234121TGc.5752A>T (p.Thr1918Ser)
c.147A>T
c.1118A>T
c.214A>T (p.Thr72Ser)
c.2407A>T
c.5560A>T (p.Thr1854Ser)
c.5686A>T (p.Thr1896Ser)
c.5581A>T (p.Thr1861Ser)
c.5533A>T (p.Thr1845Ser)
c.5491A>T (p.Thr1831Ser)
8g.132967860C>ACA372234122TGc.5753C>A (p.Thr1918Asn)
c.148C>A
c.1119C>A
c.215C>A (p.Thr72Asn)
c.2408C>A
c.5561C>A (p.Thr1854Asn)
c.5687C>A (p.Thr1896Asn)
c.5582C>A (p.Thr1861Asn)
c.5534C>A (p.Thr1845Asn)
c.5492C>A (p.Thr1831Asn)
8g.132967860C=CA1821000956TGc.5753C= (p.Thr1918=)
c.148C=
c.1119C=
c.215C= (p.Thr72=)
c.2408C=
c.5561C= (p.Thr1854=)
c.5687C= (p.Thr1896=)
c.5582C= (p.Thr1861=)
c.5534C= (p.Thr1845=)
c.5492C= (p.Thr1831=)
8g.132967860C>GCA372234123TGc.5753C>G (p.Thr1918Ser)
c.148C>G
c.1119C>G
c.215C>G (p.Thr72Ser)
c.2408C>G
c.5561C>G (p.Thr1854Ser)
c.5687C>G (p.Thr1896Ser)
c.5582C>G (p.Thr1861Ser)
c.5534C>G (p.Thr1845Ser)
c.5492C>G (p.Thr1831Ser)
8g.132967860C>TCA186291914TGc.5753C>T (p.Thr1918Ile)
c.148C>T
c.1119C>T
c.215C>T (p.Thr72Ile)
c.2408C>T
c.5561C>T (p.Thr1854Ile)
c.5687C>T (p.Thr1896Ile)
c.5582C>T (p.Thr1861Ile)
c.5534C>T (p.Thr1845Ile)
c.5492C>T (p.Thr1831Ile)
 dbSNP gnomAD v4
8g.132967861C>ACA463012533TGc.5754C>A (p.Thr1918=)
c.149C>A
c.1120C>A
c.216C>A (p.Thr72=)
c.2409C>A
c.5562C>A (p.Thr1854=)
c.5688C>A (p.Thr1896=)
c.5583C>A (p.Thr1861=)
c.5535C>A (p.Thr1845=)
c.5493C>A (p.Thr1831=)
 dbSNP
8g.132967861C=CA1821000959TGc.5754C= (p.Thr1918=)
c.149C=
c.1120C=
c.216C= (p.Thr72=)
c.2409C=
c.5562C= (p.Thr1854=)
c.5688C= (p.Thr1896=)
c.5583C= (p.Thr1861=)
c.5535C= (p.Thr1845=)
c.5493C= (p.Thr1831=)
8g.132967861C>GCA463012535TGc.5754C>G (p.Thr1918=)
c.149C>G
c.1120C>G
c.216C>G (p.Thr72=)
c.2409C>G
c.5562C>G (p.Thr1854=)
c.5688C>G (p.Thr1896=)
c.5583C>G (p.Thr1861=)
c.5535C>G (p.Thr1845=)
c.5493C>G (p.Thr1831=)
8g.132967861C>TCA463012534TGc.5754C>T (p.Thr1918=)
c.149C>T
c.1120C>T
c.216C>T (p.Thr72=)
c.2409C>T
c.5562C>T (p.Thr1854=)
c.5688C>T (p.Thr1896=)
c.5583C>T (p.Thr1861=)
c.5535C>T (p.Thr1845=)
c.5493C>T (p.Thr1831=)
8g.132967862T>ACA372234124TGc.5755T>A (p.Cys1919Ser)
c.150T>A
c.1121T>A
c.217T>A (p.Cys73Ser)
c.2410T>A
c.5563T>A (p.Cys1855Ser)
c.5689T>A (p.Cys1897Ser)
c.5584T>A (p.Cys1862Ser)
c.5536T>A (p.Cys1846Ser)
c.5494T>A (p.Cys1832Ser)
8g.132967862T>CCA372234125TGc.5755T>C (p.Cys1919Arg)
c.150T>C
c.1121T>C
c.217T>C (p.Cys73Arg)
c.2410T>C
c.5563T>C (p.Cys1855Arg)
c.5689T>C (p.Cys1897Arg)
c.5584T>C (p.Cys1862Arg)
c.5536T>C (p.Cys1846Arg)
c.5494T>C (p.Cys1832Arg)
8g.132967862T>GCA372234126TGc.5755T>G (p.Cys1919Gly)
c.150T>G
c.1121T>G
c.217T>G (p.Cys73Gly)
c.2410T>G
c.5563T>G (p.Cys1855Gly)
c.5689T>G (p.Cys1897Gly)
c.5584T>G (p.Cys1862Gly)
c.5536T>G (p.Cys1846Gly)
c.5494T>G (p.Cys1832Gly)
8g.132967863G>ACA372234127TGc.5756G>A (p.Cys1919Tyr)
c.151G>A
c.1122G>A
c.218G>A (p.Cys73Tyr)
c.2411G>A
c.5564G>A (p.Cys1855Tyr)
c.5690G>A (p.Cys1897Tyr)
c.5585G>A (p.Cys1862Tyr)
c.5537G>A (p.Cys1846Tyr)
c.5495G>A (p.Cys1832Tyr)
8g.132967863G>CCA372234128TGc.5756G>C (p.Cys1919Ser)
c.151G>C
c.1122G>C
c.218G>C (p.Cys73Ser)
c.2411G>C
c.5564G>C (p.Cys1855Ser)
c.5690G>C (p.Cys1897Ser)
c.5585G>C (p.Cys1862Ser)
c.5537G>C (p.Cys1846Ser)
c.5495G>C (p.Cys1832Ser)
8g.132967863G=CA1821000961TGc.5756G= (p.Cys1919=)
c.151G=
c.1122G=
c.218G= (p.Cys73=)
c.2411G=
c.5564G= (p.Cys1855=)
c.5690G= (p.Cys1897=)
c.5585G= (p.Cys1862=)
c.5537G= (p.Cys1846=)
c.5495G= (p.Cys1832=)
8g.132967863G>TCA372234129TGc.5756G>T (p.Cys1919Phe)
c.151G>T
c.1122G>T
c.218G>T (p.Cys73Phe)
c.2411G>T
c.5564G>T (p.Cys1855Phe)
c.5690G>T (p.Cys1897Phe)
c.5585G>T (p.Cys1862Phe)
c.5537G>T (p.Cys1846Phe)
c.5495G>T (p.Cys1832Phe)
 dbSNP gnomAD v2 gnomAD v4
8g.132967864C>ACA372234131TGc.5757C>A (p.Cys1919Ter)
c.152C>A
c.1123C>A
c.219C>A (p.Cys73Ter)
c.2412C>A
c.5565C>A (p.Cys1855Ter)
c.5691C>A (p.Cys1897Ter)
c.5586C>A (p.Cys1862Ter)
c.5538C>A (p.Cys1846Ter)
c.5496C>A (p.Cys1832Ter)
8g.132967864C=CA1821000963TGc.5757C= (p.Cys1919=)
c.152C=
c.1123C=
c.219C= (p.Cys73=)
c.2412C=
c.5565C= (p.Cys1855=)
c.5691C= (p.Cys1897=)
c.5586C= (p.Cys1862=)
c.5538C= (p.Cys1846=)
c.5496C= (p.Cys1832=)
8g.132967864C>GCA372234130TGc.5757C>G (p.Cys1919Trp)
c.152C>G
c.1123C>G
c.219C>G (p.Cys73Trp)
c.2412C>G
c.5565C>G (p.Cys1855Trp)
c.5691C>G (p.Cys1897Trp)
c.5586C>G (p.Cys1862Trp)
c.5538C>G (p.Cys1846Trp)
c.5496C>G (p.Cys1832Trp)
8g.132967864C>TCA4884616TGc.5757C>T (p.Cys1919=)
c.152C>T
c.1123C>T
c.219C>T (p.Cys73=)
c.2412C>T
c.5565C>T (p.Cys1855=)
c.5691C>T (p.Cys1897=)
c.5586C>T (p.Cys1862=)
c.5538C>T (p.Cys1846=)
c.5496C>T (p.Cys1832=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967865A=CA1821000966TGc.5758A= (p.Thr1920=)
c.153A=
c.1124A=
c.220A= (p.Thr74=)
c.2413A=
c.5566A= (p.Thr1856=)
c.5692A= (p.Thr1898=)
c.5587A= (p.Thr1863=)
c.5539A= (p.Thr1847=)
c.5497A= (p.Thr1833=)
8g.132967865A>CCA372234132TGc.5758A>C (p.Thr1920Pro)
c.153A>C
c.1124A>C
c.220A>C (p.Thr74Pro)
c.2413A>C
c.5566A>C (p.Thr1856Pro)
c.5692A>C (p.Thr1898Pro)
c.5587A>C (p.Thr1863Pro)
c.5539A>C (p.Thr1847Pro)
c.5497A>C (p.Thr1833Pro)
8g.132967865A>GCA186291915TGc.5758A>G (p.Thr1920Ala)
c.153A>G
c.1124A>G
c.220A>G (p.Thr74Ala)
c.2413A>G
c.5566A>G (p.Thr1856Ala)
c.5692A>G (p.Thr1898Ala)
c.5587A>G (p.Thr1863Ala)
c.5539A>G (p.Thr1847Ala)
c.5497A>G (p.Thr1833Ala)
 dbSNP
8g.132967865A>TCA372234133TGc.5758A>T (p.Thr1920Ser)
c.153A>T
c.1124A>T
c.220A>T (p.Thr74Ser)
c.2413A>T
c.5566A>T (p.Thr1856Ser)
c.5692A>T (p.Thr1898Ser)
c.5587A>T (p.Thr1863Ser)
c.5539A>T (p.Thr1847Ser)
c.5497A>T (p.Thr1833Ser)
 dbSNP
8g.132967866C>ACA372234134TGc.5759C>A (p.Thr1920Asn)
c.154C>A
c.1125C>A
c.221C>A (p.Thr74Asn)
c.2414C>A
c.5567C>A (p.Thr1856Asn)
c.5693C>A (p.Thr1898Asn)
c.5588C>A (p.Thr1863Asn)
c.5540C>A (p.Thr1847Asn)
c.5498C>A (p.Thr1833Asn)
8g.132967866C=CA1821000970TGc.5759C= (p.Thr1920=)
c.154C=
c.1125C=
c.221C= (p.Thr74=)
c.2414C=
c.5567C= (p.Thr1856=)
c.5693C= (p.Thr1898=)
c.5588C= (p.Thr1863=)
c.5540C= (p.Thr1847=)
c.5498C= (p.Thr1833=)
8g.132967866C>GCA372234135TGc.5759C>G (p.Thr1920Ser)
c.154C>G
c.1125C>G
c.221C>G (p.Thr74Ser)
c.2414C>G
c.5567C>G (p.Thr1856Ser)
c.5693C>G (p.Thr1898Ser)
c.5588C>G (p.Thr1863Ser)
c.5540C>G (p.Thr1847Ser)
c.5498C>G (p.Thr1833Ser)
 gnomAD v4
8g.132967866C>TCA372234136TGc.5759C>T (p.Thr1920Ile)
c.154C>T
c.1125C>T
c.221C>T (p.Thr74Ile)
c.2414C>T
c.5567C>T (p.Thr1856Ile)
c.5693C>T (p.Thr1898Ile)
c.5588C>T (p.Thr1863Ile)
c.5540C>T (p.Thr1847Ile)
c.5498C>T (p.Thr1833Ile)
 dbSNP gnomAD v2 gnomAD v4
8g.132967867C>ACA4884618TGc.5760C>A (p.Thr1920=)
c.155C>A
c.1126C>A
c.222C>A (p.Thr74=)
c.2415C>A
c.5568C>A (p.Thr1856=)
c.5694C>A (p.Thr1898=)
c.5589C>A (p.Thr1863=)
c.5541C>A (p.Thr1847=)
c.5499C>A (p.Thr1833=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967867C=CA1821000974TGc.5760C= (p.Thr1920=)
c.155C=
c.1126C=
c.222C= (p.Thr74=)
c.2415C=
c.5568C= (p.Thr1856=)
c.5694C= (p.Thr1898=)
c.5589C= (p.Thr1863=)
c.5541C= (p.Thr1847=)
c.5499C= (p.Thr1833=)
8g.132967867C>GCA463012536TGc.5760C>G (p.Thr1920=)
c.155C>G
c.1126C>G
c.222C>G (p.Thr74=)
c.2415C>G
c.5568C>G (p.Thr1856=)
c.5694C>G (p.Thr1898=)
c.5589C>G (p.Thr1863=)
c.5541C>G (p.Thr1847=)
c.5499C>G (p.Thr1833=)
8g.132967867C>TCA4884617TGc.5760C>T (p.Thr1920=)
c.155C>T
c.1126C>T
c.222C>T (p.Thr74=)
c.2415C>T
c.5568C>T (p.Thr1856=)
c.5694C>T (p.Thr1898=)
c.5589C>T (p.Thr1863=)
c.5541C>T (p.Thr1847=)
c.5499C>T (p.Thr1833=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967868C>ACA372234403TGc.5761C>A (p.Leu1921Ile)
c.156C>A
c.1127C>A
c.223C>A (p.Leu75Ile)
c.2416C>A
c.5569C>A (p.Leu1857Ile)
c.5695C>A (p.Leu1899Ile)
c.5590C>A (p.Leu1864Ile)
c.5542C>A (p.Leu1848Ile)
c.5500C>A (p.Leu1834Ile)
8g.132967868C=CA1821000977TGc.5761C= (p.Leu1921=)
c.156C=
c.1127C=
c.223C= (p.Leu75=)
c.2416C=
c.5569C= (p.Leu1857=)
c.5695C= (p.Leu1899=)
c.5590C= (p.Leu1864=)
c.5542C= (p.Leu1848=)
c.5500C= (p.Leu1834=)
8g.132967868C>GCA4884619TGc.5761C>G (p.Leu1921Val)
c.156C>G
c.1127C>G
c.223C>G (p.Leu75Val)
c.2416C>G
c.5569C>G (p.Leu1857Val)
c.5695C>G (p.Leu1899Val)
c.5590C>G (p.Leu1864Val)
c.5542C>G (p.Leu1848Val)
c.5500C>G (p.Leu1834Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967868C>TCA372234407TGc.5761C>T (p.Leu1921Phe)
c.156C>T
c.1127C>T
c.223C>T (p.Leu75Phe)
c.2416C>T
c.5569C>T (p.Leu1857Phe)
c.5695C>T (p.Leu1899Phe)
c.5590C>T (p.Leu1864Phe)
c.5542C>T (p.Leu1848Phe)
c.5500C>T (p.Leu1834Phe)
8g.132967869T>ACA372234414TGc.5762T>A (p.Leu1921His)
c.157T>A
c.1128T>A
c.224T>A (p.Leu75His)
c.2417T>A
c.5570T>A (p.Leu1857His)
c.5696T>A (p.Leu1899His)
c.5591T>A (p.Leu1864His)
c.5543T>A (p.Leu1848His)
c.5501T>A (p.Leu1834His)
8g.132967869T>CCA372234412TGc.5762T>C (p.Leu1921Pro)
c.157T>C
c.1128T>C
c.224T>C (p.Leu75Pro)
c.2417T>C
c.5570T>C (p.Leu1857Pro)
c.5696T>C (p.Leu1899Pro)
c.5591T>C (p.Leu1864Pro)
c.5543T>C (p.Leu1848Pro)
c.5501T>C (p.Leu1834Pro)
8g.132967869T>GCA372234411TGc.5762T>G (p.Leu1921Arg)
c.157T>G
c.1128T>G
c.224T>G (p.Leu75Arg)
c.2417T>G
c.5570T>G (p.Leu1857Arg)
c.5696T>G (p.Leu1899Arg)
c.5591T>G (p.Leu1864Arg)
c.5543T>G (p.Leu1848Arg)
c.5501T>G (p.Leu1834Arg)
8g.132967870C>ACA463012539TGc.5763C>A (p.Leu1921=)
c.158C>A
c.1129C>A
c.225C>A (p.Leu75=)
c.2418C>A
c.5571C>A (p.Leu1857=)
c.5697C>A (p.Leu1899=)
c.5592C>A (p.Leu1864=)
c.5544C>A (p.Leu1848=)
c.5502C>A (p.Leu1834=)
8g.132967870C>GCA463012540TGc.5763C>G (p.Leu1921=)
c.158C>G
c.1129C>G
c.225C>G (p.Leu75=)
c.2418C>G
c.5571C>G (p.Leu1857=)
c.5697C>G (p.Leu1899=)
c.5592C>G (p.Leu1864=)
c.5544C>G (p.Leu1848=)
c.5502C>G (p.Leu1834=)
8g.132967870C>TCA463012541TGc.5763C>T (p.Leu1921=)
c.158C>T
c.1129C>T
c.225C>T (p.Leu75=)
c.2418C>T
c.5571C>T (p.Leu1857=)
c.5697C>T (p.Leu1899=)
c.5592C>T (p.Leu1864=)
c.5544C>T (p.Leu1848=)
c.5502C>T (p.Leu1834=)
 gnomAD v4
8g.132967871T>ACA372234417TGc.5764T>A (p.Tyr1922Asn)
c.159T>A
c.1130T>A
c.226T>A (p.Tyr76Asn)
c.2419T>A
c.5572T>A (p.Tyr1858Asn)
c.5698T>A (p.Tyr1900Asn)
c.5593T>A (p.Tyr1865Asn)
c.5545T>A (p.Tyr1849Asn)
c.5503T>A (p.Tyr1835Asn)
8g.132967871T>CCA372234419TGc.5764T>C (p.Tyr1922His)
c.159T>C
c.1130T>C
c.226T>C (p.Tyr76His)
c.2419T>C
c.5572T>C (p.Tyr1858His)
c.5698T>C (p.Tyr1900His)
c.5593T>C (p.Tyr1865His)
c.5545T>C (p.Tyr1849His)
c.5503T>C (p.Tyr1835His)
 gnomAD v4
8g.132967871T>GCA372234423TGc.5764T>G (p.Tyr1922Asp)
c.159T>G
c.1130T>G
c.226T>G (p.Tyr76Asp)
c.2419T>G
c.5572T>G (p.Tyr1858Asp)
c.5698T>G (p.Tyr1900Asp)
c.5593T>G (p.Tyr1865Asp)
c.5545T>G (p.Tyr1849Asp)
c.5503T>G (p.Tyr1835Asp)
8g.132967872A>CCA372234425TGc.5765A>C (p.Tyr1922Ser)
c.160A>C
c.1131A>C
c.227A>C (p.Tyr76Ser)
c.2420A>C
c.5573A>C (p.Tyr1858Ser)
c.5699A>C (p.Tyr1900Ser)
c.5594A>C (p.Tyr1865Ser)
c.5546A>C (p.Tyr1849Ser)
c.5504A>C (p.Tyr1835Ser)
8g.132967872A>GCA372234428TGc.5765A>G (p.Tyr1922Cys)
c.160A>G
c.1131A>G
c.227A>G (p.Tyr76Cys)
c.2420A>G
c.5573A>G (p.Tyr1858Cys)
c.5699A>G (p.Tyr1900Cys)
c.5594A>G (p.Tyr1865Cys)
c.5546A>G (p.Tyr1849Cys)
c.5504A>G (p.Tyr1835Cys)
 gnomAD v4
8g.132967872A>TCA372234430TGc.5765A>T (p.Tyr1922Phe)
c.160A>T
c.1131A>T
c.227A>T (p.Tyr76Phe)
c.2420A>T
c.5573A>T (p.Tyr1858Phe)
c.5699A>T (p.Tyr1900Phe)
c.5594A>T (p.Tyr1865Phe)
c.5546A>T (p.Tyr1849Phe)
c.5504A>T (p.Tyr1835Phe)
8g.132967873C>ACA372234437TGc.5766C>A (p.Tyr1922Ter)
c.161C>A
c.1132C>A
c.228C>A (p.Tyr76Ter)
c.2421C>A
c.5574C>A (p.Tyr1858Ter)
c.5700C>A (p.Tyr1900Ter)
c.5595C>A (p.Tyr1865Ter)
c.5547C>A (p.Tyr1849Ter)
c.5505C>A (p.Tyr1835Ter)
8g.132967873C>GCA372234434TGc.5766C>G (p.Tyr1922Ter)
c.161C>G
c.1132C>G
c.228C>G (p.Tyr76Ter)
c.2421C>G
c.5574C>G (p.Tyr1858Ter)
c.5700C>G (p.Tyr1900Ter)
c.5595C>G (p.Tyr1865Ter)
c.5547C>G (p.Tyr1849Ter)
c.5505C>G (p.Tyr1835Ter)
8g.132967873C>TCA463012542TGc.5766C>T (p.Tyr1922=)
c.161C>T
c.1132C>T
c.228C>T (p.Tyr76=)
c.2421C>T
c.5574C>T (p.Tyr1858=)
c.5700C>T (p.Tyr1900=)
c.5595C>T (p.Tyr1865=)
c.5547C>T (p.Tyr1849=)
c.5505C>T (p.Tyr1835=)
8g.132967874C>ACA372234439TGc.5767C>A (p.Pro1923Thr)
c.162C>A
c.1133C>A
c.229C>A (p.Pro77Thr)
c.2422C>A
c.5575C>A (p.Pro1859Thr)
c.5701C>A (p.Pro1901Thr)
c.5596C>A (p.Pro1866Thr)
c.5548C>A (p.Pro1850Thr)
c.5506C>A (p.Pro1836Thr)
8g.132967874C=CA1821000978TGc.5767C= (p.Pro1923=)
c.162C=
c.1133C=
c.229C= (p.Pro77=)
c.2422C=
c.5575C= (p.Pro1859=)
c.5701C= (p.Pro1901=)
c.5596C= (p.Pro1866=)
c.5548C= (p.Pro1850=)
c.5506C= (p.Pro1836=)
8g.132967874C>GCA372234441TGc.5767C>G (p.Pro1923Ala)
c.162C>G
c.1133C>G
c.229C>G (p.Pro77Ala)
c.2422C>G
c.5575C>G (p.Pro1859Ala)
c.5701C>G (p.Pro1901Ala)
c.5596C>G (p.Pro1866Ala)
c.5548C>G (p.Pro1850Ala)
c.5506C>G (p.Pro1836Ala)
8g.132967874C>TCA4884620TGc.5767C>T (p.Pro1923Ser)
c.162C>T
c.1133C>T
c.229C>T (p.Pro77Ser)
c.2422C>T
c.5575C>T (p.Pro1859Ser)
c.5701C>T (p.Pro1901Ser)
c.5596C>T (p.Pro1866Ser)
c.5548C>T (p.Pro1850Ser)
c.5506C>T (p.Pro1836Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967875C>ACA372234445TGc.5768C>A (p.Pro1923Gln)
c.163C>A
c.1134C>A
c.230C>A (p.Pro77Gln)
c.2423C>A
c.5576C>A (p.Pro1859Gln)
c.5702C>A (p.Pro1901Gln)
c.5597C>A (p.Pro1866Gln)
c.5549C>A (p.Pro1850Gln)
c.5507C>A (p.Pro1836Gln)
8g.132967875C=CA1821000981TGc.5768C= (p.Pro1923=)
c.163C=
c.1134C=
c.230C= (p.Pro77=)
c.2423C=
c.5576C= (p.Pro1859=)
c.5702C= (p.Pro1901=)
c.5597C= (p.Pro1866=)
c.5549C= (p.Pro1850=)
c.5507C= (p.Pro1836=)
8g.132967875C>GCA372234447TGc.5768C>G (p.Pro1923Arg)
c.163C>G
c.1134C>G
c.230C>G (p.Pro77Arg)
c.2423C>G
c.5576C>G (p.Pro1859Arg)
c.5702C>G (p.Pro1901Arg)
c.5597C>G (p.Pro1866Arg)
c.5549C>G (p.Pro1850Arg)
c.5507C>G (p.Pro1836Arg)
 gnomAD v4
8g.132967875C>TCA372234448TGc.5768C>T (p.Pro1923Leu)
c.163C>T
c.1134C>T
c.230C>T (p.Pro77Leu)
c.2423C>T
c.5576C>T (p.Pro1859Leu)
c.5702C>T (p.Pro1901Leu)
c.5597C>T (p.Pro1866Leu)
c.5549C>T (p.Pro1850Leu)
c.5507C>T (p.Pro1836Leu)
 dbSNP gnomAD v2
8g.132967876A>CCA463012543TGc.5769A>C (p.Pro1923=)
c.164A>C
c.1135A>C
c.231A>C (p.Pro77=)
c.2424A>C
c.5577A>C (p.Pro1859=)
c.5703A>C (p.Pro1901=)
c.5598A>C (p.Pro1866=)
c.5550A>C (p.Pro1850=)
c.5508A>C (p.Pro1836=)
8g.132967876A>GCA463012545TGc.5769A>G (p.Pro1923=)
c.164A>G
c.1135A>G
c.231A>G (p.Pro77=)
c.2424A>G
c.5577A>G (p.Pro1859=)
c.5703A>G (p.Pro1901=)
c.5598A>G (p.Pro1866=)
c.5550A>G (p.Pro1850=)
c.5508A>G (p.Pro1836=)
8g.132967876A>TCA463012544TGc.5769A>T (p.Pro1923=)
c.164A>T
c.1135A>T
c.231A>T (p.Pro77=)
c.2424A>T
c.5577A>T (p.Pro1859=)
c.5703A>T (p.Pro1901=)
c.5598A>T (p.Pro1866=)
c.5550A>T (p.Pro1850=)
c.5508A>T (p.Pro1836=)
8g.132967877G>ACA372234452TGc.5770G>A (p.Glu1924Lys)
c.165G>A
c.1136G>A
c.232G>A (p.Glu78Lys)
c.2425G>A
c.5578G>A (p.Glu1860Lys)
c.5704G>A (p.Glu1902Lys)
c.5599G>A (p.Glu1867Lys)
c.5551G>A (p.Glu1851Lys)
c.5509G>A (p.Glu1837Lys)
 dbSNP gnomAD v2
8g.132967877G>CCA186291935TGc.5770G>C (p.Glu1924Gln)
c.165G>C
c.1136G>C
c.232G>C (p.Glu78Gln)
c.2425G>C
c.5578G>C (p.Glu1860Gln)
c.5704G>C (p.Glu1902Gln)
c.5599G>C (p.Glu1867Gln)
c.5551G>C (p.Glu1851Gln)
c.5509G>C (p.Glu1837Gln)
 dbSNP
8g.132967877G=CA1821000985TGc.5770G= (p.Glu1924=)
c.165G=
c.1136G=
c.232G= (p.Glu78=)
c.2425G=
c.5578G= (p.Glu1860=)
c.5704G= (p.Glu1902=)
c.5599G= (p.Glu1867=)
c.5551G= (p.Glu1851=)
c.5509G= (p.Glu1837=)
8g.132967877G>TCA372234454TGc.5770G>T (p.Glu1924Ter)
c.165G>T
c.1136G>T
c.232G>T (p.Glu78Ter)
c.2425G>T
c.5578G>T (p.Glu1860Ter)
c.5704G>T (p.Glu1902Ter)
c.5599G>T (p.Glu1867Ter)
c.5551G>T (p.Glu1851Ter)
c.5509G>T (p.Glu1837Ter)
8g.132967878A=CA1821000988TGc.5771A= (p.Glu1924=)
c.166A=
c.1137A=
c.233A= (p.Glu78=)
c.2426A=
c.5579A= (p.Glu1860=)
c.5705A= (p.Glu1902=)
c.5600A= (p.Glu1867=)
c.5552A= (p.Glu1851=)
c.5510A= (p.Glu1837=)
8g.132967878A>CCA4884621TGc.5771A>C (p.Glu1924Ala)
c.166A>C
c.1137A>C
c.233A>C (p.Glu78Ala)
c.2426A>C
c.5579A>C (p.Glu1860Ala)
c.5705A>C (p.Glu1902Ala)
c.5600A>C (p.Glu1867Ala)
c.5552A>C (p.Glu1851Ala)
c.5510A>C (p.Glu1837Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967878A>GCA372234455TGc.5771A>G (p.Glu1924Gly)
c.166A>G
c.1137A>G
c.233A>G (p.Glu78Gly)
c.2426A>G
c.5579A>G (p.Glu1860Gly)
c.5705A>G (p.Glu1902Gly)
c.5600A>G (p.Glu1867Gly)
c.5552A>G (p.Glu1851Gly)
c.5510A>G (p.Glu1837Gly)
 gnomAD v4
8g.132967878A>TCA372234456TGc.5771A>T (p.Glu1924Val)
c.166A>T
c.1137A>T
c.233A>T (p.Glu78Val)
c.2426A>T
c.5579A>T (p.Glu1860Val)
c.5705A>T (p.Glu1902Val)
c.5600A>T (p.Glu1867Val)
c.5552A>T (p.Glu1851Val)
c.5510A>T (p.Glu1837Val)
8g.132967879G>ACA463012546TGc.5772G>A (p.Glu1924=)
c.167G>A
c.1138G>A
c.234G>A (p.Glu78=)
c.2427G>A
c.5580G>A (p.Glu1860=)
c.5706G>A (p.Glu1902=)
c.5601G>A (p.Glu1867=)
c.5553G>A (p.Glu1851=)
c.5511G>A (p.Glu1837=)
8g.132967879G>CCA372234459TGc.5772G>C (p.Glu1924Asp)
c.167G>C
c.1138G>C
c.234G>C (p.Glu78Asp)
c.2427G>C
c.5580G>C (p.Glu1860Asp)
c.5706G>C (p.Glu1902Asp)
c.5601G>C (p.Glu1867Asp)
c.5553G>C (p.Glu1851Asp)
c.5511G>C (p.Glu1837Asp)
 dbSNP gnomAD v2 gnomAD v4
8g.132967879G=CA1821000989TGc.5772G= (p.Glu1924=)
c.167G=
c.1138G=
c.234G= (p.Glu78=)
c.2427G=
c.5580G= (p.Glu1860=)
c.5706G= (p.Glu1902=)
c.5601G= (p.Glu1867=)
c.5553G= (p.Glu1851=)
c.5511G= (p.Glu1837=)
8g.132967879G>TCA372234461TGc.5772G>T (p.Glu1924Asp)
c.167G>T
c.1138G>T
c.234G>T (p.Glu78Asp)
c.2427G>T
c.5580G>T (p.Glu1860Asp)
c.5706G>T (p.Glu1902Asp)
c.5601G>T (p.Glu1867Asp)
c.5553G>T (p.Glu1851Asp)
c.5511G>T (p.Glu1837Asp)
8g.132967880G>ACA372234464TGc.5773G>A (p.Ala1925Thr)
c.168G>A
c.1139G>A
c.235G>A (p.Ala79Thr)
c.2428G>A
c.5581G>A (p.Ala1861Thr)
c.5707G>A (p.Ala1903Thr)
c.5602G>A (p.Ala1868Thr)
c.5554G>A (p.Ala1852Thr)
c.5512G>A (p.Ala1838Thr)
 gnomAD v4
8g.132967880G>CCA372234466TGc.5773G>C (p.Ala1925Pro)
c.168G>C
c.1139G>C
c.235G>C (p.Ala79Pro)
c.2428G>C
c.5581G>C (p.Ala1861Pro)
c.5707G>C (p.Ala1903Pro)
c.5602G>C (p.Ala1868Pro)
c.5554G>C (p.Ala1852Pro)
c.5512G>C (p.Ala1838Pro)
8g.132967880G=CA1821000992TGc.5773G= (p.Ala1925=)
c.168G=
c.1139G=
c.235G= (p.Ala79=)
c.2428G=
c.5581G= (p.Ala1861=)
c.5707G= (p.Ala1903=)
c.5602G= (p.Ala1868=)
c.5554G= (p.Ala1852=)
c.5512G= (p.Ala1838=)
8g.132967880G>TCA4884622TGc.5773G>T (p.Ala1925Ser)
c.168G>T
c.1139G>T
c.235G>T (p.Ala79Ser)
c.2428G>T
c.5581G>T (p.Ala1861Ser)
c.5707G>T (p.Ala1903Ser)
c.5602G>T (p.Ala1868Ser)
c.5554G>T (p.Ala1852Ser)
c.5512G>T (p.Ala1838Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967881C>ACA372234470TGc.5774C>A (p.Ala1925Glu)
c.169C>A
c.1140C>A
c.236C>A (p.Ala79Glu)
c.2429C>A
c.5582C>A (p.Ala1861Glu)
c.5708C>A (p.Ala1903Glu)
c.5603C>A (p.Ala1868Glu)
c.5555C>A (p.Ala1852Glu)
c.5513C>A (p.Ala1838Glu)
8g.132967881C=CA1821000996TGc.5774C= (p.Ala1925=)
c.169C=
c.1140C=
c.236C= (p.Ala79=)
c.2429C=
c.5582C= (p.Ala1861=)
c.5708C= (p.Ala1903=)
c.5603C= (p.Ala1868=)
c.5555C= (p.Ala1852=)
c.5513C= (p.Ala1838=)
8g.132967881C>GCA186291947TGc.5774C>G (p.Ala1925Gly)
c.169C>G
c.1140C>G
c.236C>G (p.Ala79Gly)
c.2429C>G
c.5582C>G (p.Ala1861Gly)
c.5708C>G (p.Ala1903Gly)
c.5603C>G (p.Ala1868Gly)
c.5555C>G (p.Ala1852Gly)
c.5513C>G (p.Ala1838Gly)
 dbSNP gnomAD v3 gnomAD v4
8g.132967881C>TCA372234473TGc.5774C>T (p.Ala1925Val)
c.169C>T
c.1140C>T
c.236C>T (p.Ala79Val)
c.2429C>T
c.5582C>T (p.Ala1861Val)
c.5708C>T (p.Ala1903Val)
c.5603C>T (p.Ala1868Val)
c.5555C>T (p.Ala1852Val)
c.5513C>T (p.Ala1838Val)
8g.132967882A=CA1821000999TGc.5775A= (p.Ala1925=)
c.170A=
c.1141A=
c.237A= (p.Ala79=)
c.2430A=
c.5583A= (p.Ala1861=)
c.5709A= (p.Ala1903=)
c.5604A= (p.Ala1868=)
c.5556A= (p.Ala1852=)
c.5514A= (p.Ala1838=)
8g.132967882A>CCA463012547TGc.5775A>C (p.Ala1925=)
c.170A>C
c.1141A>C
c.237A>C (p.Ala79=)
c.2430A>C
c.5583A>C (p.Ala1861=)
c.5709A>C (p.Ala1903=)
c.5604A>C (p.Ala1868=)
c.5556A>C (p.Ala1852=)
c.5514A>C (p.Ala1838=)
8g.132967882A>GCA4884623TGc.5775A>G (p.Ala1925=)
c.170A>G
c.1141A>G
c.237A>G (p.Ala79=)
c.2430A>G
c.5583A>G (p.Ala1861=)
c.5709A>G (p.Ala1903=)
c.5604A>G (p.Ala1868=)
c.5556A>G (p.Ala1852=)
c.5514A>G (p.Ala1838=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967882A>TCA463012548TGc.5775A>T (p.Ala1925=)
c.170A>T
c.1141A>T
c.237A>T (p.Ala79=)
c.2430A>T
c.5583A>T (p.Ala1861=)
c.5709A>T (p.Ala1903=)
c.5604A>T (p.Ala1868=)
c.5556A>T (p.Ala1852=)
c.5514A>T (p.Ala1838=)
8g.132967883C>ACA372234483TGc.5776C>A (p.Gln1926Lys)
c.171C>A
c.1142C>A
c.238C>A (p.Gln80Lys)
c.2431C>A
c.5584C>A (p.Gln1862Lys)
c.5710C>A (p.Gln1904Lys)
c.5605C>A (p.Gln1869Lys)
c.5557C>A (p.Gln1853Lys)
c.5515C>A (p.Gln1839Lys)
8g.132967883C>GCA372234480TGc.5776C>G (p.Gln1926Glu)
c.171C>G
c.1142C>G
c.238C>G (p.Gln80Glu)
c.2431C>G
c.5584C>G (p.Gln1862Glu)
c.5710C>G (p.Gln1904Glu)
c.5605C>G (p.Gln1869Glu)
c.5557C>G (p.Gln1853Glu)
c.5515C>G (p.Gln1839Glu)
8g.132967883C>TCA372234486TGc.5776C>T (p.Gln1926Ter)
c.171C>T
c.1142C>T
c.238C>T (p.Gln80Ter)
c.2431C>T
c.5584C>T (p.Gln1862Ter)
c.5710C>T (p.Gln1904Ter)
c.5605C>T (p.Gln1869Ter)
c.5557C>T (p.Gln1853Ter)
c.5515C>T (p.Gln1839Ter)
 gnomAD v4
8g.132967884A>CCA372234488TGc.5777A>C (p.Gln1926Pro)
c.172A>C
c.1143A>C
c.239A>C (p.Gln80Pro)
c.2432A>C
c.5585A>C (p.Gln1862Pro)
c.5711A>C (p.Gln1904Pro)
c.5606A>C (p.Gln1869Pro)
c.5558A>C (p.Gln1853Pro)
c.5516A>C (p.Gln1839Pro)
8g.132967884A>GCA372234493TGc.5777A>G (p.Gln1926Arg)
c.172A>G
c.1143A>G
c.239A>G (p.Gln80Arg)
c.2432A>G
c.5585A>G (p.Gln1862Arg)
c.5711A>G (p.Gln1904Arg)
c.5606A>G (p.Gln1869Arg)
c.5558A>G (p.Gln1853Arg)
c.5516A>G (p.Gln1839Arg)
8g.132967884A>TCA372234491TGc.5777A>T (p.Gln1926Leu)
c.172A>T
c.1143A>T
c.239A>T (p.Gln80Leu)
c.2432A>T
c.5585A>T (p.Gln1862Leu)
c.5711A>T (p.Gln1904Leu)
c.5606A>T (p.Gln1869Leu)
c.5558A>T (p.Gln1853Leu)
c.5516A>T (p.Gln1839Leu)
8g.132967885G>ACA463012549TGc.5778G>A (p.Gln1926=)
c.173G>A
c.1144G>A
c.240G>A (p.Gln80=)
c.2433G>A
c.5586G>A (p.Gln1862=)
c.5712G>A (p.Gln1904=)
c.5607G>A (p.Gln1869=)
c.5559G>A (p.Gln1853=)
c.5517G>A (p.Gln1839=)
8g.132967885G>CCA372234497TGc.5778G>C (p.Gln1926His)
c.173G>C
c.1144G>C
c.240G>C (p.Gln80His)
c.2433G>C
c.5586G>C (p.Gln1862His)
c.5712G>C (p.Gln1904His)
c.5607G>C (p.Gln1869His)
c.5559G>C (p.Gln1853His)
c.5517G>C (p.Gln1839His)
8g.132967885G=CA1821001003TGc.5778G= (p.Gln1926=)
c.173G=
c.1144G=
c.240G= (p.Gln80=)
c.2433G=
c.5586G= (p.Gln1862=)
c.5712G= (p.Gln1904=)
c.5607G= (p.Gln1869=)
c.5559G= (p.Gln1853=)
c.5517G= (p.Gln1839=)
8g.132967885G>TCA372234499TGc.5778G>T (p.Gln1926His)
c.173G>T
c.1144G>T
c.240G>T (p.Gln80His)
c.2433G>T
c.5586G>T (p.Gln1862His)
c.5712G>T (p.Gln1904His)
c.5607G>T (p.Gln1869His)
c.5559G>T (p.Gln1853His)
c.5517G>T (p.Gln1839His)
8g.132967886G>ACA372234503TGc.5779G>A (p.Val1927Met)
c.174G>A
c.1145G>A
c.241G>A (p.Val81Met)
c.2434G>A
c.5587G>A (p.Val1863Met)
c.5713G>A (p.Val1905Met)
c.5608G>A (p.Val1870Met)
c.5560G>A (p.Val1854Met)
c.5518G>A (p.Val1840Met)
8g.132967886G>CCA372234508TGc.5779G>C (p.Val1927Leu)
c.174G>C
c.1145G>C
c.241G>C (p.Val81Leu)
c.2434G>C
c.5587G>C (p.Val1863Leu)
c.5713G>C (p.Val1905Leu)
c.5608G>C (p.Val1870Leu)
c.5560G>C (p.Val1854Leu)
c.5518G>C (p.Val1840Leu)
8g.132967886G>TCA372234505TGc.5779G>T (p.Val1927Leu)
c.174G>T
c.1145G>T
c.241G>T (p.Val81Leu)
c.2434G>T
c.5587G>T (p.Val1863Leu)
c.5713G>T (p.Val1905Leu)
c.5608G>T (p.Val1870Leu)
c.5560G>T (p.Val1854Leu)
c.5518G>T (p.Val1840Leu)
8g.132967891_132967892dupCA1821001006TGc.5784_5785dup (p.Asp1929ValfsTer14)
c.179_180dup
c.1150_1151dup
c.246_247dup (p.Asp83ValfsTer14)
c.2439_2440dup
c.5592_5593dup (p.Asp1865ValfsTer14)
c.5718_5719dup (p.Asp1907ValfsTer14)
c.5613_5614dup (p.Asp1872ValfsTer14)
c.5565_5566dup (p.Asp1856ValfsTer14)
c.5523_5524dup (p.Asp1842ValfsTer14)
 dbSNP
8g.132967887T>ACA372234511TGc.5780T>A (p.Val1927Glu)
c.175T>A
c.1146T>A
c.242T>A (p.Val81Glu)
c.2435T>A
c.5588T>A (p.Val1863Glu)
c.5714T>A (p.Val1905Glu)
c.5609T>A (p.Val1870Glu)
c.5561T>A (p.Val1854Glu)
c.5519T>A (p.Val1840Glu)
8g.132967887T>CCA372234514TGc.5780T>C (p.Val1927Ala)
c.175T>C
c.1146T>C
c.242T>C (p.Val81Ala)
c.2435T>C
c.5588T>C (p.Val1863Ala)
c.5714T>C (p.Val1905Ala)
c.5609T>C (p.Val1870Ala)
c.5561T>C (p.Val1854Ala)
c.5519T>C (p.Val1840Ala)
8g.132967887T>GCA372234516TGc.5780T>G (p.Val1927Gly)
c.175T>G
c.1146T>G
c.242T>G (p.Val81Gly)
c.2435T>G
c.5588T>G (p.Val1863Gly)
c.5714T>G (p.Val1905Gly)
c.5609T>G (p.Val1870Gly)
c.5561T>G (p.Val1854Gly)
c.5519T>G (p.Val1840Gly)
8g.132967888G>ACA4884624TGc.5781G>A (p.Val1927=)
c.176G>A
c.1147G>A
c.243G>A (p.Val81=)
c.2436G>A
c.5589G>A (p.Val1863=)
c.5715G>A (p.Val1905=)
c.5610G>A (p.Val1870=)
c.5562G>A (p.Val1854=)
c.5520G>A (p.Val1840=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967888G>CCA463012550TGc.5781G>C (p.Val1927=)
c.176G>C
c.1147G>C
c.243G>C (p.Val81=)
c.2436G>C
c.5589G>C (p.Val1863=)
c.5715G>C (p.Val1905=)
c.5610G>C (p.Val1870=)
c.5562G>C (p.Val1854=)
c.5520G>C (p.Val1840=)
8g.132967888G=CA1821001007TGc.5781G= (p.Val1927=)
c.176G=
c.1147G=
c.243G= (p.Val81=)
c.2436G=
c.5589G= (p.Val1863=)
c.5715G= (p.Val1905=)
c.5610G= (p.Val1870=)
c.5562G= (p.Val1854=)
c.5520G= (p.Val1840=)
8g.132967888G>TCA463012551TGc.5781G>T (p.Val1927=)
c.176G>T
c.1147G>T
c.243G>T (p.Val81=)
c.2436G>T
c.5589G>T (p.Val1863=)
c.5715G>T (p.Val1905=)
c.5610G>T (p.Val1870=)
c.5562G>T (p.Val1854=)
c.5520G>T (p.Val1840=)
8g.132967889T>ACA372234523TGc.5782T>A (p.Cys1928Ser)
c.177T>A
c.1148T>A
c.244T>A (p.Cys82Ser)
c.2437T>A
c.5590T>A (p.Cys1864Ser)
c.5716T>A (p.Cys1906Ser)
c.5611T>A (p.Cys1871Ser)
c.5563T>A (p.Cys1855Ser)
c.5521T>A (p.Cys1841Ser)
8g.132967889T>CCA372234525TGc.5782T>C (p.Cys1928Arg)
c.177T>C
c.1148T>C
c.244T>C (p.Cys82Arg)
c.2437T>C
c.5590T>C (p.Cys1864Arg)
c.5716T>C (p.Cys1906Arg)
c.5611T>C (p.Cys1871Arg)
c.5563T>C (p.Cys1855Arg)
c.5521T>C (p.Cys1841Arg)
8g.132967889T>GCA372234526TGc.5782T>G (p.Cys1928Gly)
c.177T>G
c.1148T>G
c.244T>G (p.Cys82Gly)
c.2437T>G
c.5590T>G (p.Cys1864Gly)
c.5716T>G (p.Cys1906Gly)
c.5611T>G (p.Cys1871Gly)
c.5563T>G (p.Cys1855Gly)
c.5521T>G (p.Cys1841Gly)
8g.132967890G>ACA4884625TGc.5783G>A (p.Cys1928Tyr)
c.178G>A
c.1149G>A
c.245G>A (p.Cys82Tyr)
c.2438G>A
c.5591G>A (p.Cys1864Tyr)
c.5717G>A (p.Cys1906Tyr)
c.5612G>A (p.Cys1871Tyr)
c.5564G>A (p.Cys1855Tyr)
c.5522G>A (p.Cys1841Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
8g.132967890G>CCA372234529TGc.5783G>C (p.Cys1928Ser)
c.178G>C
c.1149G>C
c.245G>C (p.Cys82Ser)
c.2438G>C
c.5591G>C (p.Cys1864Ser)
c.5717G>C (p.Cys1906Ser)
c.5612G>C (p.Cys1871Ser)
c.5564G>C (p.Cys1855Ser)
c.5522G>C (p.Cys1841Ser)
8g.132967890G=CA1821001009TGc.5783G= (p.Cys1928=)
c.178G=
c.1149G=
c.245G= (p.Cys82=)
c.2438G=
c.5591G= (p.Cys1864=)
c.5717G= (p.Cys1906=)
c.5612G= (p.Cys1871=)
c.5564G= (p.Cys1855=)
c.5522G= (p.Cys1841=)
8g.132967890G>TCA372234532TGc.5783G>T (p.Cys1928Phe)
c.178G>T
c.1149G>T
c.245G>T (p.Cys82Phe)
c.2438G>T
c.5591G>T (p.Cys1864Phe)
c.5717G>T (p.Cys1906Phe)
c.5612G>T (p.Cys1871Phe)
c.5564G>T (p.Cys1855Phe)
c.5522G>T (p.Cys1841Phe)
8g.132967891T>ACA372234534TGc.5784T>A (p.Cys1928Ter)
c.179T>A
c.1150T>A
c.246T>A (p.Cys82Ter)
c.2439T>A
c.5592T>A (p.Cys1864Ter)
c.5718T>A (p.Cys1906Ter)
c.5613T>A (p.Cys1871Ter)
c.5565T>A (p.Cys1855Ter)
c.5523T>A (p.Cys1841Ter)
8g.132967891T>CCA463012552TGc.5784T>C (p.Cys1928=)
c.179T>C
c.1150T>C
c.246T>C (p.Cys82=)
c.2439T>C
c.5592T>C (p.Cys1864=)
c.5718T>C (p.Cys1906=)
c.5613T>C (p.Cys1871=)
c.5565T>C (p.Cys1855=)
c.5523T>C (p.Cys1841=)
8g.132967891T>GCA372234537TGc.5784T>G (p.Cys1928Trp)
c.179T>G
c.1150T>G
c.246T>G (p.Cys82Trp)
c.2439T>G
c.5592T>G (p.Cys1864Trp)
c.5718T>G (p.Cys1906Trp)
c.5613T>G (p.Cys1871Trp)
c.5565T>G (p.Cys1855Trp)
c.5523T>G (p.Cys1841Trp)
8g.132967892G>ACA372234546TGc.5785G>A (p.Asp1929Asn)
c.180G>A
c.1151G>A
c.247G>A (p.Asp83Asn)
c.2440G>A
c.5593G>A (p.Asp1865Asn)
c.5719G>A (p.Asp1907Asn)
c.5614G>A (p.Asp1872Asn)
c.5566G>A (p.Asp1856Asn)
c.5524G>A (p.Asp1842Asn)
8g.132967892G>CCA372234543TGc.5785G>C (p.Asp1929His)
c.180G>C
c.1151G>C
c.247G>C (p.Asp83His)
c.2440G>C
c.5593G>C (p.Asp1865His)
c.5719G>C (p.Asp1907His)
c.5614G>C (p.Asp1872His)
c.5566G>C (p.Asp1856His)
c.5524G>C (p.Asp1842His)
8g.132967892G>TCA372234540TGc.5785G>T (p.Asp1929Tyr)
c.180G>T
c.1151G>T
c.247G>T (p.Asp83Tyr)
c.2440G>T
c.5593G>T (p.Asp1865Tyr)
c.5719G>T (p.Asp1907Tyr)
c.5614G>T (p.Asp1872Tyr)
c.5566G>T (p.Asp1856Tyr)
c.5524G>T (p.Asp1842Tyr)
8g.132967892_132967893delinsGACA1821001012TGc.5785_5786delinsGA (p.Asp1929=)
c.180_181delinsGA
c.1151_1152delinsGA
c.247_248delinsGA (p.Asp83=)
c.2440_2441delinsGA
c.5593_5594delinsGA (p.Asp1865=)
c.5719_5720delinsGA (p.Asp1907=)
c.5614_5615delinsGA (p.Asp1872=)
c.5566_5567delinsGA (p.Asp1856=)
c.5524_5525delinsGA (p.Asp1842=)
8g.132967893delCA1119387444TGc.5786del (p.Asp1929ValfsTer13)
c.181del
c.1152del
c.248del (p.Asp83ValfsTer13)
c.2441del
c.5594del (p.Asp1865ValfsTer13)
c.5720del (p.Asp1907ValfsTer13)
c.5615del (p.Asp1872ValfsTer13)
c.5567del (p.Asp1856ValfsTer13)
c.5525del (p.Asp1842ValfsTer13)
 dbSNP gnomAD v3 gnomAD v4
8g.132967893A>CCA372234549TGc.5786A>C (p.Asp1929Ala)
c.181A>C
c.1152A>C
c.248A>C (p.Asp83Ala)
c.2441A>C
c.5594A>C (p.Asp1865Ala)
c.5720A>C (p.Asp1907Ala)
c.5615A>C (p.Asp1872Ala)
c.5567A>C (p.Asp1856Ala)
c.5525A>C (p.Asp1842Ala)
8g.132967893A>GCA372234552TGc.5786A>G (p.Asp1929Gly)
c.181A>G
c.1152A>G
c.248A>G (p.Asp83Gly)
c.2441A>G
c.5594A>G (p.Asp1865Gly)
c.5720A>G (p.Asp1907Gly)
c.5615A>G (p.Asp1872Gly)
c.5567A>G (p.Asp1856Gly)
c.5525A>G (p.Asp1842Gly)
8g.132967893A>TCA372234554TGc.5786A>T (p.Asp1929Val)
c.181A>T
c.1152A>T
c.248A>T (p.Asp83Val)
c.2441A>T
c.5594A>T (p.Asp1865Val)
c.5720A>T (p.Asp1907Val)
c.5615A>T (p.Asp1872Val)
c.5567A>T (p.Asp1856Val)
c.5525A>T (p.Asp1842Val)
8g.132967894T>ACA372234556TGc.5787T>A (p.Asp1929Glu)
c.182T>A
c.1153T>A
c.249T>A (p.Asp83Glu)
c.2442T>A
c.5595T>A (p.Asp1865Glu)
c.5721T>A (p.Asp1907Glu)
c.5616T>A (p.Asp1872Glu)
c.5568T>A (p.Asp1856Glu)
c.5526T>A (p.Asp1842Glu)
8g.132967894T>CCA463012553TGc.5787T>C (p.Asp1929=)
c.182T>C
c.1153T>C
c.249T>C (p.Asp83=)
c.2442T>C
c.5595T>C (p.Asp1865=)
c.5721T>C (p.Asp1907=)
c.5616T>C (p.Asp1872=)
c.5568T>C (p.Asp1856=)
c.5526T>C (p.Asp1842=)
 gnomAD v4
8g.132967894T>GCA372234558TGc.5787T>G (p.Asp1929Glu)
c.182T>G
c.1153T>G
c.249T>G (p.Asp83Glu)
c.2442T>G
c.5595T>G (p.Asp1865Glu)
c.5721T>G (p.Asp1907Glu)
c.5616T>G (p.Asp1872Glu)
c.5568T>G (p.Asp1856Glu)
c.5526T>G (p.Asp1842Glu)
8g.132967895G>ACA372234562TGc.5788G>A (p.Asp1930Asn)
c.183G>A
c.1154G>A
c.250G>A (p.Asp84Asn)
c.2443G>A
c.5596G>A (p.Asp1866Asn)
c.5722G>A (p.Asp1908Asn)
c.5617G>A (p.Asp1873Asn)
c.5569G>A (p.Asp1857Asn)
c.5527G>A (p.Asp1843Asn)
8g.132967895G>CCA372234567TGc.5788G>C (p.Asp1930His)
c.183G>C
c.1154G>C
c.250G>C (p.Asp84His)
c.2443G>C
c.5596G>C (p.Asp1866His)
c.5722G>C (p.Asp1908His)
c.5617G>C (p.Asp1873His)
c.5569G>C (p.Asp1857His)
c.5527G>C (p.Asp1843His)
8g.132967895G>TCA372234568TGc.5788G>T (p.Asp1930Tyr)
c.183G>T
c.1154G>T
c.250G>T (p.Asp84Tyr)
c.2443G>T
c.5596G>T (p.Asp1866Tyr)
c.5722G>T (p.Asp1908Tyr)
c.5617G>T (p.Asp1873Tyr)
c.5569G>T (p.Asp1857Tyr)
c.5527G>T (p.Asp1843Tyr)
8g.132967896A=CA1821001015TGc.5789A= (p.Asp1930=)
c.184A=
c.1155A=
c.251A= (p.Asp84=)
c.2444A=
c.5597A= (p.Asp1866=)
c.5723A= (p.Asp1908=)
c.5618A= (p.Asp1873=)
c.5570A= (p.Asp1857=)
c.5528A= (p.Asp1843=)
8g.132967896A>CCA372234571TGc.5789A>C (p.Asp1930Ala)
c.184A>C
c.1155A>C
c.251A>C (p.Asp84Ala)
c.2444A>C
c.5597A>C (p.Asp1866Ala)
c.5723A>C (p.Asp1908Ala)
c.5618A>C (p.Asp1873Ala)
c.5570A>C (p.Asp1857Ala)
c.5528A>C (p.Asp1843Ala)
8g.132967896A>GCA186291954TGc.5789A>G (p.Asp1930Gly)
c.184A>G
c.1155A>G
c.251A>G (p.Asp84Gly)
c.2444A>G
c.5597A>G (p.Asp1866Gly)
c.5723A>G (p.Asp1908Gly)
c.5618A>G (p.Asp1873Gly)
c.5570A>G (p.Asp1857Gly)
c.5528A>G (p.Asp1843Gly)
 dbSNP gnomAD v4
8g.132967896A>TCA372234581TGc.5789A>T (p.Asp1930Val)
c.184A>T
c.1155A>T
c.251A>T (p.Asp84Val)
c.2444A>T
c.5597A>T (p.Asp1866Val)
c.5723A>T (p.Asp1908Val)
c.5618A>T (p.Asp1873Val)
c.5570A>T (p.Asp1857Val)
c.5528A>T (p.Asp1843Val)
 gnomAD v4
8g.132967897C>ACA372234584TGc.5790C>A (p.Asp1930Glu)
c.185C>A
c.1156C>A
c.252C>A (p.Asp84Glu)
c.2445C>A
c.5598C>A (p.Asp1866Glu)
c.5724C>A (p.Asp1908Glu)
c.5619C>A (p.Asp1873Glu)
c.5571C>A (p.Asp1857Glu)
c.5529C>A (p.Asp1843Glu)
8g.132967897C=CA1821001018TGc.5790C= (p.Asp1930=)
c.185C=
c.1156C=
c.252C= (p.Asp84=)
c.2445C=
c.5598C= (p.Asp1866=)
c.5724C= (p.Asp1908=)
c.5619C= (p.Asp1873=)
c.5571C= (p.Asp1857=)
c.5529C= (p.Asp1843=)
8g.132967897C>GCA372234587TGc.5790C>G (p.Asp1930Glu)
c.185C>G
c.1156C>G
c.252C>G (p.Asp84Glu)
c.2445C>G
c.5598C>G (p.Asp1866Glu)
c.5724C>G (p.Asp1908Glu)
c.5619C>G (p.Asp1873Glu)
c.5571C>G (p.Asp1857Glu)
c.5529C>G (p.Asp1843Glu)
8g.132967897C>TCA463012554TGc.5790C>T (p.Asp1930=)
c.185C>T
c.1156C>T
c.252C>T (p.Asp84=)
c.2445C>T
c.5598C>T (p.Asp1866=)
c.5724C>T (p.Asp1908=)
c.5619C>T (p.Asp1873=)
c.5571C>T (p.Asp1857=)
c.5529C>T (p.Asp1843=)
 dbSNP gnomAD v4
8g.132967898A=CA1821001022TGc.5791A= (p.Ile1931=)
c.1157A=
c.253A= (p.Ile85=)
c.2446A=
c.5599A= (p.Ile1867=)
c.5725A= (p.Ile1909=)
c.5620A= (p.Ile1874=)
c.5572A= (p.Ile1858=)
c.5530A= (p.Ile1844=)
8g.132967898A>CCA372234596TGc.5791A>C (p.Ile1931Leu)
c.1157A>C
c.253A>C (p.Ile85Leu)
c.2446A>C
c.5599A>C (p.Ile1867Leu)
c.5725A>C (p.Ile1909Leu)
c.5620A>C (p.Ile1874Leu)
c.5572A>C (p.Ile1858Leu)
c.5530A>C (p.Ile1844Leu)
8g.132967898A>GCA4884626TGc.5791A>G (p.Ile1931Val)
c.1157A>G
c.253A>G (p.Ile85Val)
c.2446A>G
c.5599A>G (p.Ile1867Val)
c.5725A>G (p.Ile1909Val)
c.5620A>G (p.Ile1874Val)
c.5572A>G (p.Ile1858Val)
c.5530A>G (p.Ile1844Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
8g.132967898A>TCA372234594TGc.5791A>T (p.Ile1931Phe)
c.1157A>T
c.253A>T (p.Ile85Phe)
c.2446A>T
c.5599A>T (p.Ile1867Phe)
c.5725A>T (p.Ile1909Phe)
c.5620A>T (p.Ile1874Phe)
c.5572A>T (p.Ile1858Phe)
c.5530A>T (p.Ile1844Phe)

Number of alleles fetched