Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.215376565_215376579dupCA1327346865FN1c.5807_5821dup (p.Val1940_Pro1941insGlnValAspAlaVal)
c.5534_5548dup (p.Val1849_Pro1850insGlnValAspAlaVal)
c.5264_5278dup (p.Val1759_Pro1760insGlnValAspAlaVal)
c.5537_5551dup (p.Val1850_Pro1851insGlnValAspAlaVal)
c.1685_1699dup (p.Val566_Pro567insGlnValAspAlaVal)
n.892_906dup
n.6944_6958dup
n.132+3028_132+3042dup
 dbSNP
2g.215376574A>CCA431154985FN1c.5811T>G (p.Val1937=)
c.5538T>G (p.Val1846=)
c.5268T>G (p.Val1756=)
c.5541T>G (p.Val1847=)
c.1689T>G (p.Val563=)
n.896T>G
n.6948T>G
n.132+3037A>C
 gnomAD v4
2g.215376574A>GCA431154986FN1c.5811T>C (p.Val1937=)
c.5538T>C (p.Val1846=)
c.5268T>C (p.Val1756=)
c.5541T>C (p.Val1847=)
c.1689T>C (p.Val563=)
n.896T>C
n.6948T>C
n.132+3037A>G
2g.215376574A>TCA431154987FN1c.5811T>A (p.Val1937=)
c.5538T>A (p.Val1846=)
c.5268T>A (p.Val1756=)
c.5541T>A (p.Val1847=)
c.1689T>A (p.Val563=)
n.896T>A
n.6948T>A
n.132+3037A>T
2g.215376575A=CA1327346872FN1c.5810T= (p.Val1937=)
c.5537T= (p.Val1846=)
c.5267T= (p.Val1756=)
c.5540T= (p.Val1847=)
c.1688T= (p.Val563=)
n.895T=
n.6947T=
n.132+3038A=
2g.215376575A>CCA350471414FN1c.5810T>G (p.Val1937Gly)
c.5537T>G (p.Val1846Gly)
c.5267T>G (p.Val1756Gly)
c.5540T>G (p.Val1847Gly)
c.1688T>G (p.Val563Gly)
n.895T>G
n.6947T>G
n.132+3038A>C
 dbSNP gnomAD v2 gnomAD v4
2g.215376575A>GCA350471411FN1c.5810T>C (p.Val1937Ala)
c.5537T>C (p.Val1846Ala)
c.5267T>C (p.Val1756Ala)
c.5540T>C (p.Val1847Ala)
c.1688T>C (p.Val563Ala)
n.895T>C
n.6947T>C
n.132+3038A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215376575A>TCA350471413FN1c.5810T>A (p.Val1937Asp)
c.5537T>A (p.Val1846Asp)
c.5267T>A (p.Val1756Asp)
c.5540T>A (p.Val1847Asp)
c.1688T>A (p.Val563Asp)
n.895T>A
n.6947T>A
n.132+3038A>T
2g.215376576C>ACA350471416FN1c.5809G>T (p.Val1937Phe)
c.5536G>T (p.Val1846Phe)
c.5266G>T (p.Val1756Phe)
c.5539G>T (p.Val1847Phe)
c.1687G>T (p.Val563Phe)
n.894G>T
n.6946G>T
n.132+3039C>A
2g.215376576C>GCA350471418FN1c.5809G>C (p.Val1937Leu)
c.5536G>C (p.Val1846Leu)
c.5266G>C (p.Val1756Leu)
c.5539G>C (p.Val1847Leu)
c.1687G>C (p.Val563Leu)
n.894G>C
n.6946G>C
n.132+3039C>G
2g.215376576C>TCA350471422FN1c.5809G>A (p.Val1937Ile)
c.5536G>A (p.Val1846Ile)
c.5266G>A (p.Val1756Ile)
c.5539G>A (p.Val1847Ile)
c.1687G>A (p.Val563Ile)
n.894G>A
n.6946G>A
n.132+3039C>T
2g.215376581_215376605delCA2701531704FN1c.5785_5809del (p.Thr1929LeufsTer?)
c.5512_5536del (p.Thr1838LeufsTer?)
c.5242_5266del (p.Thr1748LeufsTer?)
c.5515_5539del (p.Thr1839LeufsTer?)
c.1663_1687del (p.Thr555LeufsTer?)
n.870_894del
n.6922_6946del
n.132+3044_132+3068del
 dbSNP
2g.215376577T>ACA350471424FN1c.5808A>T (p.Gln1936His)
c.5535A>T (p.Gln1845His)
c.5265A>T (p.Gln1755His)
c.5538A>T (p.Gln1846His)
c.1686A>T (p.Gln562His)
n.893A>T
n.6945A>T
n.132+3040T>A
2g.215376577T>CCA431154988FN1c.5808A>G (p.Gln1936=)
c.5535A>G (p.Gln1845=)
c.5265A>G (p.Gln1755=)
c.5538A>G (p.Gln1846=)
c.1686A>G (p.Gln562=)
n.893A>G
n.6945A>G
n.132+3040T>C
2g.215376577T>GCA350471425FN1c.5808A>C (p.Gln1936His)
c.5535A>C (p.Gln1845His)
c.5265A>C (p.Gln1755His)
c.5538A>C (p.Gln1846His)
c.1686A>C (p.Gln562His)
n.893A>C
n.6945A>C
n.132+3040T>G
2g.215376578T>ACA350471427FN1c.5807A>T (p.Gln1936Leu)
c.5534A>T (p.Gln1845Leu)
c.5264A>T (p.Gln1755Leu)
c.5537A>T (p.Gln1846Leu)
c.1685A>T (p.Gln562Leu)
n.892A>T
n.6944A>T
n.132+3041T>A
2g.215376578T>CCA350471429FN1c.5807A>G (p.Gln1936Arg)
c.5534A>G (p.Gln1845Arg)
c.5264A>G (p.Gln1755Arg)
c.5537A>G (p.Gln1846Arg)
c.1685A>G (p.Gln562Arg)
n.892A>G
n.6944A>G
n.132+3041T>C
2g.215376578T>GCA350471430FN1c.5807A>C (p.Gln1936Pro)
c.5534A>C (p.Gln1845Pro)
c.5264A>C (p.Gln1755Pro)
c.5537A>C (p.Gln1846Pro)
c.1685A>C (p.Gln562Pro)
n.892A>C
n.6944A>C
n.132+3041T>G
2g.215376579G>ACA350471432FN1c.5806C>T (p.Gln1936Ter)
c.5533C>T (p.Gln1845Ter)
c.5263C>T (p.Gln1755Ter)
c.5536C>T (p.Gln1846Ter)
c.1684C>T (p.Gln562Ter)
n.891C>T
n.6943C>T
n.132+3042G>A
2g.215376579G>CCA350471434FN1c.5806C>G (p.Gln1936Glu)
c.5533C>G (p.Gln1845Glu)
c.5263C>G (p.Gln1755Glu)
c.5536C>G (p.Gln1846Glu)
c.1684C>G (p.Gln562Glu)
n.891C>G
n.6943C>G
n.132+3042G>C
2g.215376579G>TCA350471436FN1c.5806C>A (p.Gln1936Lys)
c.5533C>A (p.Gln1845Lys)
c.5263C>A (p.Gln1755Lys)
c.5536C>A (p.Gln1846Lys)
c.1684C>A (p.Gln562Lys)
n.891C>A
n.6943C>A
n.132+3042G>T
2g.215376580G>ACA431154989FN1c.5805C>T (p.Phe1935=)
c.5532C>T (p.Phe1844=)
c.5262C>T (p.Phe1754=)
c.5535C>T (p.Phe1845=)
c.1683C>T (p.Phe561=)
n.890C>T
n.6942C>T
n.132+3043G>A
2g.215376580G>CCA350471437FN1c.5805C>G (p.Phe1935Leu)
c.5532C>G (p.Phe1844Leu)
c.5262C>G (p.Phe1754Leu)
c.5535C>G (p.Phe1845Leu)
c.1683C>G (p.Phe561Leu)
n.890C>G
n.6942C>G
n.132+3043G>C
2g.215376580G>TCA350471440FN1c.5805C>A (p.Phe1935Leu)
c.5532C>A (p.Phe1844Leu)
c.5262C>A (p.Phe1754Leu)
c.5535C>A (p.Phe1845Leu)
c.1683C>A (p.Phe561Leu)
n.890C>A
n.6942C>A
n.132+3043G>T
2g.215376581A>CCA350471442FN1c.5804T>G (p.Phe1935Cys)
c.5531T>G (p.Phe1844Cys)
c.5261T>G (p.Phe1754Cys)
c.5534T>G (p.Phe1845Cys)
c.1682T>G (p.Phe561Cys)
n.889T>G
n.6941T>G
n.132+3044A>C
2g.215376581A>GCA350471446FN1c.5804T>C (p.Phe1935Ser)
c.5531T>C (p.Phe1844Ser)
c.5261T>C (p.Phe1754Ser)
c.5534T>C (p.Phe1845Ser)
c.1682T>C (p.Phe561Ser)
n.889T>C
n.6941T>C
n.132+3044A>G
2g.215376581A>TCA350471443FN1c.5804T>A (p.Phe1935Tyr)
c.5531T>A (p.Phe1844Tyr)
c.5261T>A (p.Phe1754Tyr)
c.5534T>A (p.Phe1845Tyr)
c.1682T>A (p.Phe561Tyr)
n.889T>A
n.6941T>A
n.132+3044A>T
2g.215376582A>CCA350471449FN1c.5803T>G (p.Phe1935Val)
c.5530T>G (p.Phe1844Val)
c.5260T>G (p.Phe1754Val)
c.5533T>G (p.Phe1845Val)
c.1681T>G (p.Phe561Val)
n.888T>G
n.6940T>G
n.132+3045A>C
2g.215376582A>GCA350471451FN1c.5803T>C (p.Phe1935Leu)
c.5530T>C (p.Phe1844Leu)
c.5260T>C (p.Phe1754Leu)
c.5533T>C (p.Phe1845Leu)
c.1681T>C (p.Phe561Leu)
n.888T>C
n.6940T>C
n.132+3045A>G
2g.215376582A>TCA350471453FN1c.5803T>A (p.Phe1935Ile)
c.5530T>A (p.Phe1844Ile)
c.5260T>A (p.Phe1754Ile)
c.5533T>A (p.Phe1845Ile)
c.1681T>A (p.Phe561Ile)
n.888T>A
n.6940T>A
n.132+3045A>T
2g.215376583G>ACA431154990FN1c.5802C>T (p.Gly1934=)
c.5529C>T (p.Gly1843=)
c.5259C>T (p.Gly1753=)
c.5532C>T (p.Gly1844=)
c.1680C>T (p.Gly560=)
n.887C>T
n.6939C>T
n.132+3046G>A
2g.215376583G>CCA431154992FN1c.5802C>G (p.Gly1934=)
c.5529C>G (p.Gly1843=)
c.5259C>G (p.Gly1753=)
c.5532C>G (p.Gly1844=)
c.1680C>G (p.Gly560=)
n.887C>G
n.6939C>G
n.132+3046G>C
2g.215376583G>TCA431154991FN1c.5802C>A (p.Gly1934=)
c.5529C>A (p.Gly1843=)
c.5259C>A (p.Gly1753=)
c.5532C>A (p.Gly1844=)
c.1680C>A (p.Gly560=)
n.887C>A
n.6939C>A
n.132+3046G>T
2g.215376584C>ACA350471455FN1c.5801G>T (p.Gly1934Val)
c.5528G>T (p.Gly1843Val)
c.5258G>T (p.Gly1753Val)
c.5531G>T (p.Gly1844Val)
c.1679G>T (p.Gly560Val)
n.886G>T
n.6938G>T
n.132+3047C>A
2g.215376584C=CA1327346873FN1c.5801G= (p.Gly1934=)
c.5528G= (p.Gly1843=)
c.5258G= (p.Gly1753=)
c.5531G= (p.Gly1844=)
c.1679G= (p.Gly560=)
n.886G=
n.6938G=
n.132+3047C=
2g.215376584C>GCA350471457FN1c.5801G>C (p.Gly1934Ala)
c.5528G>C (p.Gly1843Ala)
c.5258G>C (p.Gly1753Ala)
c.5531G>C (p.Gly1844Ala)
c.1679G>C (p.Gly560Ala)
n.886G>C
n.6938G>C
n.132+3047C>G
2g.215376584C>TCA350471458FN1c.5801G>A (p.Gly1934Asp)
c.5528G>A (p.Gly1843Asp)
c.5258G>A (p.Gly1753Asp)
c.5531G>A (p.Gly1844Asp)
c.1679G>A (p.Gly560Asp)
n.886G>A
n.6938G>A
n.132+3047C>T
 dbSNP
2g.215376585C>ACA350471461FN1c.5800G>T (p.Gly1934Cys)
c.5527G>T (p.Gly1843Cys)
c.5257G>T (p.Gly1753Cys)
c.5530G>T (p.Gly1844Cys)
c.1678G>T (p.Gly560Cys)
n.885G>T
n.6937G>T
n.132+3048C>A
2g.215376585C>GCA350471463FN1c.5800G>C (p.Gly1934Arg)
c.5527G>C (p.Gly1843Arg)
c.5257G>C (p.Gly1753Arg)
c.5530G>C (p.Gly1844Arg)
c.1678G>C (p.Gly560Arg)
n.885G>C
n.6937G>C
n.132+3048C>G
2g.215376585C>TCA350471466FN1c.5800G>A (p.Gly1934Ser)
c.5527G>A (p.Gly1843Ser)
c.5257G>A (p.Gly1753Ser)
c.5530G>A (p.Gly1844Ser)
c.1678G>A (p.Gly560Ser)
n.885G>A
n.6937G>A
n.132+3048C>T
2g.215376586A=CA1327346874FN1c.5799T= (p.Thr1933=)
c.5526T= (p.Thr1842=)
c.5256T= (p.Thr1752=)
c.5529T= (p.Thr1843=)
c.1677T= (p.Thr559=)
n.884T=
n.6936T=
n.132+3049A=
2g.215376586A>CCA431154993FN1c.5799T>G (p.Thr1933=)
c.5526T>G (p.Thr1842=)
c.5256T>G (p.Thr1752=)
c.5529T>G (p.Thr1843=)
c.1677T>G (p.Thr559=)
n.884T>G
n.6936T>G
n.132+3049A>C
 dbSNP
2g.215376586A>GCA431154994FN1c.5799T>C (p.Thr1933=)
c.5526T>C (p.Thr1842=)
c.5256T>C (p.Thr1752=)
c.5529T>C (p.Thr1843=)
c.1677T>C (p.Thr559=)
n.884T>C
n.6936T>C
n.132+3049A>G
 gnomAD v4
2g.215376586A>TCA431154995FN1c.5799T>A (p.Thr1933=)
c.5526T>A (p.Thr1842=)
c.5256T>A (p.Thr1752=)
c.5529T>A (p.Thr1843=)
c.1677T>A (p.Thr559=)
n.884T>A
n.6936T>A
n.132+3049A>T
2g.215376587G>ACA350471468FN1c.5798C>T (p.Thr1933Ile)
c.5525C>T (p.Thr1842Ile)
c.5255C>T (p.Thr1752Ile)
c.5528C>T (p.Thr1843Ile)
c.1676C>T (p.Thr559Ile)
n.883C>T
n.6935C>T
n.132+3050G>A
 gnomAD v4
2g.215376587G>CCA350471472FN1c.5798C>G (p.Thr1933Ser)
c.5525C>G (p.Thr1842Ser)
c.5255C>G (p.Thr1752Ser)
c.5528C>G (p.Thr1843Ser)
c.1676C>G (p.Thr559Ser)
n.883C>G
n.6935C>G
n.132+3050G>C
 ClinVar gnomAD v4
2g.215376587G>TCA350471478FN1c.5798C>A (p.Thr1933Asn)
c.5525C>A (p.Thr1842Asn)
c.5255C>A (p.Thr1752Asn)
c.5528C>A (p.Thr1843Asn)
c.1676C>A (p.Thr559Asn)
n.883C>A
n.6935C>A
n.132+3050G>T
2g.215376588T>ACA350471484FN1c.5797A>T (p.Thr1933Ser)
c.5524A>T (p.Thr1842Ser)
c.5254A>T (p.Thr1752Ser)
c.5527A>T (p.Thr1843Ser)
c.1675A>T (p.Thr559Ser)
n.882A>T
n.6934A>T
n.132+3051T>A
2g.215376588T>CCA350471482FN1c.5797A>G (p.Thr1933Ala)
c.5524A>G (p.Thr1842Ala)
c.5254A>G (p.Thr1752Ala)
c.5527A>G (p.Thr1843Ala)
c.1675A>G (p.Thr559Ala)
n.882A>G
n.6934A>G
n.132+3051T>C
2g.215376588T>GCA350471480FN1c.5797A>C (p.Thr1933Pro)
c.5524A>C (p.Thr1842Pro)
c.5254A>C (p.Thr1752Pro)
c.5527A>C (p.Thr1843Pro)
c.1675A>C (p.Thr559Pro)
n.882A>C
n.6934A>C
n.132+3051T>G
2g.215376589G>ACA431154996FN1c.5796C>T (p.Ile1932=)
c.5523C>T (p.Ile1841=)
c.5253C>T (p.Ile1751=)
c.5526C>T (p.Ile1842=)
c.1674C>T (p.Ile558=)
n.881C>T
n.6933C>T
n.132+3052G>A
 gnomAD v4
2g.215376589G>CCA350471485FN1c.5796C>G (p.Ile1932Met)
c.5523C>G (p.Ile1841Met)
c.5253C>G (p.Ile1751Met)
c.5526C>G (p.Ile1842Met)
c.1674C>G (p.Ile558Met)
n.881C>G
n.6933C>G
n.132+3052G>C
2g.215376589G=CA1327346875FN1c.5796C= (p.Ile1932=)
c.5523C= (p.Ile1841=)
c.5253C= (p.Ile1751=)
c.5526C= (p.Ile1842=)
c.1674C= (p.Ile558=)
n.881C=
n.6933C=
n.132+3052G=
2g.215376589G>TCA2094031FN1c.5796C>A (p.Ile1932=)
c.5523C>A (p.Ile1841=)
c.5253C>A (p.Ile1751=)
c.5526C>A (p.Ile1842=)
c.1674C>A (p.Ile558=)
n.881C>A
n.6933C>A
n.132+3052G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376590A>CCA350471490FN1c.5795T>G (p.Ile1932Ser)
c.5522T>G (p.Ile1841Ser)
c.5252T>G (p.Ile1751Ser)
c.5525T>G (p.Ile1842Ser)
c.1673T>G (p.Ile558Ser)
n.880T>G
n.6932T>G
n.132+3053A>C
2g.215376590A>GCA350471492FN1c.5795T>C (p.Ile1932Thr)
c.5522T>C (p.Ile1841Thr)
c.5252T>C (p.Ile1751Thr)
c.5525T>C (p.Ile1842Thr)
c.1673T>C (p.Ile558Thr)
n.880T>C
n.6932T>C
n.132+3053A>G
2g.215376590A>TCA350471494FN1c.5795T>A (p.Ile1932Asn)
c.5522T>A (p.Ile1841Asn)
c.5252T>A (p.Ile1751Asn)
c.5525T>A (p.Ile1842Asn)
c.1673T>A (p.Ile558Asn)
n.880T>A
n.6932T>A
n.132+3053A>T
2g.215376591T>ACA350471496FN1c.5794A>T (p.Ile1932Phe)
c.5521A>T (p.Ile1841Phe)
c.5251A>T (p.Ile1751Phe)
c.5524A>T (p.Ile1842Phe)
c.1672A>T (p.Ile558Phe)
n.879A>T
n.6931A>T
n.132+3054T>A
2g.215376591T>CCA350471498FN1c.5794A>G (p.Ile1932Val)
c.5521A>G (p.Ile1841Val)
c.5251A>G (p.Ile1751Val)
c.5524A>G (p.Ile1842Val)
c.1672A>G (p.Ile558Val)
n.879A>G
n.6931A>G
n.132+3054T>C
2g.215376591T>GCA350471500FN1c.5794A>C (p.Ile1932Leu)
c.5521A>C (p.Ile1841Leu)
c.5251A>C (p.Ile1751Leu)
c.5524A>C (p.Ile1842Leu)
c.1672A>C (p.Ile558Leu)
n.879A>C
n.6931A>C
n.132+3054T>G
2g.215376592C>ACA431154997FN1c.5793G>T (p.Thr1931=)
c.5520G>T (p.Thr1840=)
c.5250G>T (p.Thr1750=)
c.5523G>T (p.Thr1841=)
c.1671G>T (p.Thr557=)
n.878G>T
n.6930G>T
n.132+3055C>A
2g.215376592C=CA1327346876FN1c.5793G= (p.Thr1931=)
c.5520G= (p.Thr1840=)
c.5250G= (p.Thr1750=)
c.5523G= (p.Thr1841=)
c.1671G= (p.Thr557=)
n.878G=
n.6930G=
n.132+3055C=
2g.215376592C>GCA431154998FN1c.5793G>C (p.Thr1931=)
c.5520G>C (p.Thr1840=)
c.5250G>C (p.Thr1750=)
c.5523G>C (p.Thr1841=)
c.1671G>C (p.Thr557=)
n.878G>C
n.6930G>C
n.132+3055C>G
 gnomAD v4
2g.215376592C>TCA2094032FN1c.5793G>A (p.Thr1931=)
c.5520G>A (p.Thr1840=)
c.5250G>A (p.Thr1750=)
c.5523G>A (p.Thr1841=)
c.1671G>A (p.Thr557=)
n.878G>A
n.6930G>A
n.132+3055C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376593G>ACA2094033FN1c.5792C>T (p.Thr1931Met)
c.5519C>T (p.Thr1840Met)
c.5249C>T (p.Thr1750Met)
c.5522C>T (p.Thr1841Met)
c.1670C>T (p.Thr557Met)
n.877C>T
n.6929C>T
n.132+3056G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.215376593G>CCA350471505FN1c.5792C>G (p.Thr1931Arg)
c.5519C>G (p.Thr1840Arg)
c.5249C>G (p.Thr1750Arg)
c.5522C>G (p.Thr1841Arg)
c.1670C>G (p.Thr557Arg)
n.877C>G
n.6929C>G
n.132+3056G>C
2g.215376593G=CA1327346877FN1c.5792C= (p.Thr1931=)
c.5519C= (p.Thr1840=)
c.5249C= (p.Thr1750=)
c.5522C= (p.Thr1841=)
c.1670C= (p.Thr557=)
n.877C=
n.6929C=
n.132+3056G=
2g.215376593G>TCA350471507FN1c.5792C>A (p.Thr1931Lys)
c.5519C>A (p.Thr1840Lys)
c.5249C>A (p.Thr1750Lys)
c.5522C>A (p.Thr1841Lys)
c.1670C>A (p.Thr557Lys)
n.877C>A
n.6929C>A
n.132+3056G>T
2g.215376594T>ACA350471508FN1c.5791A>T (p.Thr1931Ser)
c.5518A>T (p.Thr1840Ser)
c.5248A>T (p.Thr1750Ser)
c.5521A>T (p.Thr1841Ser)
c.1669A>T (p.Thr557Ser)
n.876A>T
n.6928A>T
n.132+3057T>A
2g.215376594T>CCA350471510FN1c.5791A>G (p.Thr1931Ala)
c.5518A>G (p.Thr1840Ala)
c.5248A>G (p.Thr1750Ala)
c.5521A>G (p.Thr1841Ala)
c.1669A>G (p.Thr557Ala)
n.876A>G
n.6928A>G
n.132+3057T>C
2g.215376594T>GCA350471509FN1c.5791A>C (p.Thr1931Pro)
c.5518A>C (p.Thr1840Pro)
c.5248A>C (p.Thr1750Pro)
c.5521A>C (p.Thr1841Pro)
c.1669A>C (p.Thr557Pro)
n.876A>C
n.6928A>C
n.132+3057T>G
2g.215376595C>ACA350471511FN1c.5790G>T (p.Glu1930Asp)
c.5517G>T (p.Glu1839Asp)
c.5247G>T (p.Glu1749Asp)
c.5520G>T (p.Glu1840Asp)
c.1668G>T (p.Glu556Asp)
n.875G>T
n.6927G>T
n.132+3058C>A
2g.215376595C>GCA350471512FN1c.5790G>C (p.Glu1930Asp)
c.5517G>C (p.Glu1839Asp)
c.5247G>C (p.Glu1749Asp)
c.5520G>C (p.Glu1840Asp)
c.1668G>C (p.Glu556Asp)
n.875G>C
n.6927G>C
n.132+3058C>G
2g.215376595C>TCA431154999FN1c.5790G>A (p.Glu1930=)
c.5517G>A (p.Glu1839=)
c.5247G>A (p.Glu1749=)
c.5520G>A (p.Glu1840=)
c.1668G>A (p.Glu556=)
n.875G>A
n.6927G>A
n.132+3058C>T
2g.215376596T>ACA350471514FN1c.5789A>T (p.Glu1930Val)
c.5516A>T (p.Glu1839Val)
c.5246A>T (p.Glu1749Val)
c.5519A>T (p.Glu1840Val)
c.1667A>T (p.Glu556Val)
n.874A>T
n.6926A>T
n.132+3059T>A
2g.215376596T>CCA350471515FN1c.5789A>G (p.Glu1930Gly)
c.5516A>G (p.Glu1839Gly)
c.5246A>G (p.Glu1749Gly)
c.5519A>G (p.Glu1840Gly)
c.1667A>G (p.Glu556Gly)
n.874A>G
n.6926A>G
n.132+3059T>C
2g.215376596T>GCA350471517FN1c.5789A>C (p.Glu1930Ala)
c.5516A>C (p.Glu1839Ala)
c.5246A>C (p.Glu1749Ala)
c.5519A>C (p.Glu1840Ala)
c.1667A>C (p.Glu556Ala)
n.874A>C
n.6926A>C
n.132+3059T>G
2g.215376597C>ACA350471519FN1c.5788G>T (p.Glu1930Ter)
c.5515G>T (p.Glu1839Ter)
c.5245G>T (p.Glu1749Ter)
c.5518G>T (p.Glu1840Ter)
c.1666G>T (p.Glu556Ter)
n.873G>T
n.6925G>T
n.132+3060C>A
2g.215376597C>GCA350471520FN1c.5788G>C (p.Glu1930Gln)
c.5515G>C (p.Glu1839Gln)
c.5245G>C (p.Glu1749Gln)
c.5518G>C (p.Glu1840Gln)
c.1666G>C (p.Glu556Gln)
n.873G>C
n.6925G>C
n.132+3060C>G
2g.215376597C>TCA350471521FN1c.5788G>A (p.Glu1930Lys)
c.5515G>A (p.Glu1839Lys)
c.5245G>A (p.Glu1749Lys)
c.5518G>A (p.Glu1840Lys)
c.1666G>A (p.Glu556Lys)
n.873G>A
n.6925G>A
n.132+3060C>T
2g.215376598A=CA1327346878FN1c.5787T= (p.Thr1929=)
c.5514T= (p.Thr1838=)
c.5244T= (p.Thr1748=)
c.5517T= (p.Thr1839=)
c.1665T= (p.Thr555=)
n.872T=
n.6924T=
n.132+3061A=
2g.215376598A>CCA431155000FN1c.5787T>G (p.Thr1929=)
c.5514T>G (p.Thr1838=)
c.5244T>G (p.Thr1748=)
c.5517T>G (p.Thr1839=)
c.1665T>G (p.Thr555=)
n.872T>G
n.6924T>G
n.132+3061A>C
2g.215376598A>GCA64850069FN1c.5787T>C (p.Thr1929=)
c.5514T>C (p.Thr1838=)
c.5244T>C (p.Thr1748=)
c.5517T>C (p.Thr1839=)
c.1665T>C (p.Thr555=)
n.872T>C
n.6924T>C
n.132+3061A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.215376598A>TCA431155001FN1c.5787T>A (p.Thr1929=)
c.5514T>A (p.Thr1838=)
c.5244T>A (p.Thr1748=)
c.5517T>A (p.Thr1839=)
c.1665T>A (p.Thr555=)
n.872T>A
n.6924T>A
n.132+3061A>T
2g.215376599G>ACA350471527FN1c.5786C>T (p.Thr1929Ile)
c.5513C>T (p.Thr1838Ile)
c.5243C>T (p.Thr1748Ile)
c.5516C>T (p.Thr1839Ile)
c.1664C>T (p.Thr555Ile)
n.871C>T
n.6923C>T
n.132+3062G>A
2g.215376599G>CCA350471523FN1c.5786C>G (p.Thr1929Ser)
c.5513C>G (p.Thr1838Ser)
c.5243C>G (p.Thr1748Ser)
c.5516C>G (p.Thr1839Ser)
c.1664C>G (p.Thr555Ser)
n.871C>G
n.6923C>G
n.132+3062G>C
2g.215376599G>TCA350471524FN1c.5786C>A (p.Thr1929Asn)
c.5513C>A (p.Thr1838Asn)
c.5243C>A (p.Thr1748Asn)
c.5516C>A (p.Thr1839Asn)
c.1664C>A (p.Thr555Asn)
n.871C>A
n.6923C>A
n.132+3062G>T
2g.215376600T>ACA350471528FN1c.5785A>T (p.Thr1929Ser)
c.5512A>T (p.Thr1838Ser)
c.5242A>T (p.Thr1748Ser)
c.5515A>T (p.Thr1839Ser)
c.1663A>T (p.Thr555Ser)
n.870A>T
n.6922A>T
n.132+3063T>A
2g.215376600T>CCA350471530FN1c.5785A>G (p.Thr1929Ala)
c.5512A>G (p.Thr1838Ala)
c.5242A>G (p.Thr1748Ala)
c.5515A>G (p.Thr1839Ala)
c.1663A>G (p.Thr555Ala)
n.870A>G
n.6922A>G
n.132+3063T>C
2g.215376600T>GCA350471531FN1c.5785A>C (p.Thr1929Pro)
c.5512A>C (p.Thr1838Pro)
c.5242A>C (p.Thr1748Pro)
c.5515A>C (p.Thr1839Pro)
c.1663A>C (p.Thr555Pro)
n.870A>C
n.6922A>C
n.132+3063T>G
2g.215376601C>ACA350471533FN1c.5784G>T (p.Lys1928Asn)
c.5511G>T (p.Lys1837Asn)
c.5241G>T (p.Lys1747Asn)
c.5514G>T (p.Lys1838Asn)
c.1662G>T (p.Lys554Asn)
n.869G>T
n.6921G>T
n.132+3064C>A
2g.215376601C>GCA350471535FN1c.5784G>C (p.Lys1928Asn)
c.5511G>C (p.Lys1837Asn)
c.5241G>C (p.Lys1747Asn)
c.5514G>C (p.Lys1838Asn)
c.1662G>C (p.Lys554Asn)
n.869G>C
n.6921G>C
n.132+3064C>G
2g.215376601C>TCA431155002FN1c.5784G>A (p.Lys1928=)
c.5511G>A (p.Lys1837=)
c.5241G>A (p.Lys1747=)
c.5514G>A (p.Lys1838=)
c.1662G>A (p.Lys554=)
n.869G>A
n.6921G>A
n.132+3064C>T
 gnomAD v4
2g.215376602T>ACA350471537FN1c.5783A>T (p.Lys1928Met)
c.5510A>T (p.Lys1837Met)
c.5240A>T (p.Lys1747Met)
c.5513A>T (p.Lys1838Met)
c.1661A>T (p.Lys554Met)
n.868A>T
n.6920A>T
n.132+3065T>A
2g.215376602T>CCA350471542FN1c.5783A>G (p.Lys1928Arg)
c.5510A>G (p.Lys1837Arg)
c.5240A>G (p.Lys1747Arg)
c.5513A>G (p.Lys1838Arg)
c.1661A>G (p.Lys554Arg)
n.868A>G
n.6920A>G
n.132+3065T>C
2g.215376602T>GCA350471540FN1c.5783A>C (p.Lys1928Thr)
c.5510A>C (p.Lys1837Thr)
c.5240A>C (p.Lys1747Thr)
c.5513A>C (p.Lys1838Thr)
c.1661A>C (p.Lys554Thr)
n.868A>C
n.6920A>C
n.132+3065T>G
2g.215376603T>ACA350471543FN1c.5782A>T (p.Lys1928Ter)
c.5509A>T (p.Lys1837Ter)
c.5239A>T (p.Lys1747Ter)
c.5512A>T (p.Lys1838Ter)
c.1660A>T (p.Lys554Ter)
n.867A>T
n.6919A>T
n.132+3066T>A
2g.215376603T>CCA350471545FN1c.5782A>G (p.Lys1928Glu)
c.5509A>G (p.Lys1837Glu)
c.5239A>G (p.Lys1747Glu)
c.5512A>G (p.Lys1838Glu)
c.1660A>G (p.Lys554Glu)
n.867A>G
n.6919A>G
n.132+3066T>C
2g.215376603T>GCA350471547FN1c.5782A>C (p.Lys1928Gln)
c.5509A>C (p.Lys1837Gln)
c.5239A>C (p.Lys1747Gln)
c.5512A>C (p.Lys1838Gln)
c.1660A>C (p.Lys554Gln)
n.867A>C
n.6919A>C
n.132+3066T>G
2g.215376604G>ACA431155003FN1c.5781C>T (p.Thr1927=)
c.5508C>T (p.Thr1836=)
c.5238C>T (p.Thr1746=)
c.5511C>T (p.Thr1837=)
c.1659C>T (p.Thr553=)
n.866C>T
n.6918C>T
n.132+3067G>A
 dbSNP
2g.215376604G>CCA431155005FN1c.5781C>G (p.Thr1927=)
c.5508C>G (p.Thr1836=)
c.5238C>G (p.Thr1746=)
c.5511C>G (p.Thr1837=)
c.1659C>G (p.Thr553=)
n.866C>G
n.6918C>G
n.132+3067G>C
2g.215376604G=CA1327346879FN1c.5781C= (p.Thr1927=)
c.5508C= (p.Thr1836=)
c.5238C= (p.Thr1746=)
c.5511C= (p.Thr1837=)
c.1659C= (p.Thr553=)
n.866C=
n.6918C=
n.132+3067G=
2g.215376604G>TCA431155004FN1c.5781C>A (p.Thr1927=)
c.5508C>A (p.Thr1836=)
c.5238C>A (p.Thr1746=)
c.5511C>A (p.Thr1837=)
c.1659C>A (p.Thr553=)
n.866C>A
n.6918C>A
n.132+3067G>T
2g.215376605G>ACA350471549FN1c.5780C>T (p.Thr1927Ile)
c.5507C>T (p.Thr1836Ile)
c.5237C>T (p.Thr1746Ile)
c.5510C>T (p.Thr1837Ile)
c.1658C>T (p.Thr553Ile)
n.865C>T
n.6917C>T
n.132+3068G>A
 gnomAD v4
2g.215376605G>CCA350471551FN1c.5780C>G (p.Thr1927Ser)
c.5507C>G (p.Thr1836Ser)
c.5237C>G (p.Thr1746Ser)
c.5510C>G (p.Thr1837Ser)
c.1658C>G (p.Thr553Ser)
n.865C>G
n.6917C>G
n.132+3068G>C
2g.215376605G>TCA350471552FN1c.5780C>A (p.Thr1927Asn)
c.5507C>A (p.Thr1836Asn)
c.5237C>A (p.Thr1746Asn)
c.5510C>A (p.Thr1837Asn)
c.1658C>A (p.Thr553Asn)
n.865C>A
n.6917C>A
n.132+3068G>T
2g.215376606T>ACA350471553FN1c.5779A>T (p.Thr1927Ser)
c.5506A>T (p.Thr1836Ser)
c.5236A>T (p.Thr1746Ser)
c.5509A>T (p.Thr1837Ser)
c.1657A>T (p.Thr553Ser)
n.864A>T
n.6916A>T
n.132+3069T>A
2g.215376606T>CCA350471554FN1c.5779A>G (p.Thr1927Ala)
c.5506A>G (p.Thr1836Ala)
c.5236A>G (p.Thr1746Ala)
c.5509A>G (p.Thr1837Ala)
c.1657A>G (p.Thr553Ala)
n.864A>G
n.6916A>G
n.132+3069T>C
2g.215376606T>GCA350471555FN1c.5779A>C (p.Thr1927Pro)
c.5506A>C (p.Thr1836Pro)
c.5236A>C (p.Thr1746Pro)
c.5509A>C (p.Thr1837Pro)
c.1657A>C (p.Thr553Pro)
n.864A>C
n.6916A>C
n.132+3069T>G
2g.215376607T>ACA350471557FN1c.5778A>T (p.Arg1926Ser)
c.5505A>T (p.Arg1835Ser)
c.5235A>T (p.Arg1745Ser)
c.5508A>T (p.Arg1836Ser)
c.1656A>T (p.Arg552Ser)
n.863A>T
n.6915A>T
n.132+3070T>A
2g.215376607T>CCA431155006FN1c.5778A>G (p.Arg1926=)
c.5505A>G (p.Arg1835=)
c.5235A>G (p.Arg1745=)
c.5508A>G (p.Arg1836=)
c.1656A>G (p.Arg552=)
n.863A>G
n.6915A>G
n.132+3070T>C
2g.215376607T>GCA350471559FN1c.5778A>C (p.Arg1926Ser)
c.5505A>C (p.Arg1835Ser)
c.5235A>C (p.Arg1745Ser)
c.5508A>C (p.Arg1836Ser)
c.1656A>C (p.Arg552Ser)
n.863A>C
n.6915A>C
n.132+3070T>G
2g.215376608C>ACA350471561FN1c.5777G>T (p.Arg1926Ile)
c.5504G>T (p.Arg1835Ile)
c.5234G>T (p.Arg1745Ile)
c.5507G>T (p.Arg1836Ile)
c.1655G>T (p.Arg552Ile)
n.862G>T
n.6914G>T
n.132+3071C>A
2g.215376608C>GCA350471565FN1c.5777G>C (p.Arg1926Thr)
c.5504G>C (p.Arg1835Thr)
c.5234G>C (p.Arg1745Thr)
c.5507G>C (p.Arg1836Thr)
c.1655G>C (p.Arg552Thr)
n.862G>C
n.6914G>C
n.132+3071C>G
2g.215376608C>TCA350471563FN1c.5777G>A (p.Arg1926Lys)
c.5504G>A (p.Arg1835Lys)
c.5234G>A (p.Arg1745Lys)
c.5507G>A (p.Arg1836Lys)
c.1655G>A (p.Arg552Lys)
n.862G>A
n.6914G>A
n.132+3071C>T
2g.215376609T>ACA350471572FN1c.5776A>T (p.Arg1926Ter)
c.5503A>T (p.Arg1835Ter)
c.5233A>T (p.Arg1745Ter)
c.5506A>T (p.Arg1836Ter)
c.1654A>T (p.Arg552Ter)
n.861A>T
n.6913A>T
n.132+3072T>A
2g.215376609T>CCA350471574FN1c.5776A>G (p.Arg1926Gly)
c.5503A>G (p.Arg1835Gly)
c.5233A>G (p.Arg1745Gly)
c.5506A>G (p.Arg1836Gly)
c.1654A>G (p.Arg552Gly)
n.861A>G
n.6913A>G
n.132+3072T>C
2g.215376609T>GCA431155007FN1c.5776A>C (p.Arg1926=)
c.5503A>C (p.Arg1835=)
c.5233A>C (p.Arg1745=)
c.5506A>C (p.Arg1836=)
c.1654A>C (p.Arg552=)
n.861A>C
n.6913A>C
n.132+3072T>G
2g.215376610C>ACA350471577FN1c.5775G>T (p.Trp1925Cys)
c.5502G>T (p.Trp1834Cys)
c.5232G>T (p.Trp1744Cys)
c.5505G>T (p.Trp1835Cys)
c.1653G>T (p.Trp551Cys)
n.860G>T
n.6912G>T
n.132+3073C>A
2g.215376610C=CA1327346880FN1c.5775G= (p.Trp1925=)
c.5502G= (p.Trp1834=)
c.5232G= (p.Trp1744=)
c.5505G= (p.Trp1835=)
c.1653G= (p.Trp551=)
n.860G=
n.6912G=
n.132+3073C=
2g.215376610C>GCA352250FN1c.5775G>C (p.Trp1925Cys)
c.5502G>C (p.Trp1834Cys)
c.5232G>C (p.Trp1744Cys)
c.5505G>C (p.Trp1835Cys)
c.1653G>C (p.Trp551Cys)
n.860G>C
n.6912G>C
n.132+3073C>G
 ClinVar dbSNP gnomAD v4
2g.215376610C>TCA350471580FN1c.5775G>A (p.Trp1925Ter)
c.5502G>A (p.Trp1834Ter)
c.5232G>A (p.Trp1744Ter)
c.5505G>A (p.Trp1835Ter)
c.1653G>A (p.Trp551Ter)
n.860G>A
n.6912G>A
n.132+3073C>T
2g.215376611delCA2577236403FN1c.5775del (p.Trp1925Ter)
c.5502del (p.Trp1834Ter)
c.5232del (p.Trp1744Ter)
c.5505del (p.Trp1835Ter)
c.1653del (p.Trp551Ter)
n.860del
n.6912del
n.132+3074del
2g.215376611C>ACA350471582FN1c.5774G>T (p.Trp1925Leu)
c.5501G>T (p.Trp1834Leu)
c.5231G>T (p.Trp1744Leu)
c.5504G>T (p.Trp1835Leu)
c.1652G>T (p.Trp551Leu)
n.859G>T
n.6911G>T
n.132+3074C>A
2g.215376611C>GCA350471583FN1c.5774G>C (p.Trp1925Ser)
c.5501G>C (p.Trp1834Ser)
c.5231G>C (p.Trp1744Ser)
c.5504G>C (p.Trp1835Ser)
c.1652G>C (p.Trp551Ser)
n.859G>C
n.6911G>C
n.132+3074C>G
2g.215376611C>TCA350471584FN1c.5774G>A (p.Trp1925Ter)
c.5501G>A (p.Trp1834Ter)
c.5231G>A (p.Trp1744Ter)
c.5504G>A (p.Trp1835Ter)
c.1652G>A (p.Trp551Ter)
n.859G>A
n.6911G>A
n.132+3074C>T
 gnomAD v4
2g.215376612A=CA1327346881FN1c.5773T= (p.Trp1925=)
c.5500T= (p.Trp1834=)
c.5230T= (p.Trp1744=)
c.5503T= (p.Trp1835=)
c.1651T= (p.Trp551=)
n.858T=
n.6910T=
n.132+3075A=
2g.215376612A>CCA350471585FN1c.5773T>G (p.Trp1925Gly)
c.5500T>G (p.Trp1834Gly)
c.5230T>G (p.Trp1744Gly)
c.5503T>G (p.Trp1835Gly)
c.1651T>G (p.Trp551Gly)
n.858T>G
n.6910T>G
n.132+3075A>C
2g.215376612A>GCA350471586FN1c.5773T>C (p.Trp1925Arg)
c.5500T>C (p.Trp1834Arg)
c.5230T>C (p.Trp1744Arg)
c.5503T>C (p.Trp1835Arg)
c.1651T>C (p.Trp551Arg)
n.858T>C
n.6910T>C
n.132+3075A>G
 gnomAD v4
2g.215376612A>TCA126364FN1c.5773T>A (p.Trp1925Arg)
c.5500T>A (p.Trp1834Arg)
c.5230T>A (p.Trp1744Arg)
c.5503T>A (p.Trp1835Arg)
c.1651T>A (p.Trp551Arg)
n.858T>A
n.6910T>A
n.132+3075A>T
 ClinVar dbSNP
2g.215376613G>ACA431155008FN1c.5772C>T (p.Ser1924=)
c.5499C>T (p.Ser1833=)
c.5229C>T (p.Ser1743=)
c.5502C>T (p.Ser1834=)
c.1650C>T (p.Ser550=)
n.857C>T
n.6909C>T
n.132+3076G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215376613G>CCA350471587FN1c.5772C>G (p.Ser1924Arg)
c.5499C>G (p.Ser1833Arg)
c.5229C>G (p.Ser1743Arg)
c.5502C>G (p.Ser1834Arg)
c.1650C>G (p.Ser550Arg)
n.857C>G
n.6909C>G
n.132+3076G>C
 gnomAD v4
2g.215376613G=CA1327346882FN1c.5772C= (p.Ser1924=)
c.5499C= (p.Ser1833=)
c.5229C= (p.Ser1743=)
c.5502C= (p.Ser1834=)
c.1650C= (p.Ser550=)
n.857C=
n.6909C=
n.132+3076G=
2g.215376613G>TCA350471589FN1c.5772C>A (p.Ser1924Arg)
c.5499C>A (p.Ser1833Arg)
c.5229C>A (p.Ser1743Arg)
c.5502C>A (p.Ser1834Arg)
c.1650C>A (p.Ser550Arg)
n.857C>A
n.6909C>A
n.132+3076G>T
2g.215376614C>ACA350471590FN1c.5771G>T (p.Ser1924Ile)
c.5498G>T (p.Ser1833Ile)
c.5228G>T (p.Ser1743Ile)
c.5501G>T (p.Ser1834Ile)
c.1649G>T (p.Ser550Ile)
n.856G>T
n.6908G>T
n.132+3077C>A
2g.215376614C>GCA350471593FN1c.5771G>C (p.Ser1924Thr)
c.5498G>C (p.Ser1833Thr)
c.5228G>C (p.Ser1743Thr)
c.5501G>C (p.Ser1834Thr)
c.1649G>C (p.Ser550Thr)
n.856G>C
n.6908G>C
n.132+3077C>G
2g.215376614C>TCA350471591FN1c.5771G>A (p.Ser1924Asn)
c.5498G>A (p.Ser1833Asn)
c.5228G>A (p.Ser1743Asn)
c.5501G>A (p.Ser1834Asn)
c.1649G>A (p.Ser550Asn)
n.856G>A
n.6908G>A
n.132+3077C>T
2g.215376615T>ACA350471598FN1c.5770A>T (p.Ser1924Cys)
c.5497A>T (p.Ser1833Cys)
c.5227A>T (p.Ser1743Cys)
c.5500A>T (p.Ser1834Cys)
c.1648A>T (p.Ser550Cys)
n.855A>T
n.6907A>T
n.132+3078T>A
2g.215376615T>CCA350471599FN1c.5770A>G (p.Ser1924Gly)
c.5497A>G (p.Ser1833Gly)
c.5227A>G (p.Ser1743Gly)
c.5500A>G (p.Ser1834Gly)
c.1648A>G (p.Ser550Gly)
n.855A>G
n.6907A>G
n.132+3078T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.215376615T>GCA350471600FN1c.5770A>C (p.Ser1924Arg)
c.5497A>C (p.Ser1833Arg)
c.5227A>C (p.Ser1743Arg)
c.5500A>C (p.Ser1834Arg)
c.1648A>C (p.Ser550Arg)
n.855A>C
n.6907A>C
n.132+3078T>G
2g.215376615T=CA1327346883FN1c.5770A= (p.Ser1924=)
c.5497A= (p.Ser1833=)
c.5227A= (p.Ser1743=)
c.5500A= (p.Ser1834=)
c.1648A= (p.Ser550=)
n.855A=
n.6907A=
n.132+3078T=
2g.215376616A=CA1327346884FN1c.5769T= (p.Ile1923=)
c.5496T= (p.Ile1832=)
c.5226T= (p.Ile1742=)
c.5499T= (p.Ile1833=)
c.1647T= (p.Ile549=)
n.854T=
n.6906T=
n.132+3079A=
2g.215376616A>CCA350471602FN1c.5769T>G (p.Ile1923Met)
c.5496T>G (p.Ile1832Met)
c.5226T>G (p.Ile1742Met)
c.5499T>G (p.Ile1833Met)
c.1647T>G (p.Ile549Met)
n.854T>G
n.6906T>G
n.132+3079A>C
 dbSNP gnomAD v4
2g.215376616A>GCA431155009FN1c.5769T>C (p.Ile1923=)
c.5496T>C (p.Ile1832=)
c.5226T>C (p.Ile1742=)
c.5499T>C (p.Ile1833=)
c.1647T>C (p.Ile549=)
n.854T>C
n.6906T>C
n.132+3079A>G
 ClinVar gnomAD v4
2g.215376616A>TCA431155010FN1c.5769T>A (p.Ile1923=)
c.5496T>A (p.Ile1832=)
c.5226T>A (p.Ile1742=)
c.5499T>A (p.Ile1833=)
c.1647T>A (p.Ile549=)
n.854T>A
n.6906T>A
n.132+3079A>T
2g.215376617A>CCA350471604FN1c.5768T>G (p.Ile1923Ser)
c.5495T>G (p.Ile1832Ser)
c.5225T>G (p.Ile1742Ser)
c.5498T>G (p.Ile1833Ser)
c.1646T>G (p.Ile549Ser)
n.853T>G
n.6905T>G
n.132+3080A>C
2g.215376617A>GCA350471606FN1c.5768T>C (p.Ile1923Thr)
c.5495T>C (p.Ile1832Thr)
c.5225T>C (p.Ile1742Thr)
c.5498T>C (p.Ile1833Thr)
c.1646T>C (p.Ile549Thr)
n.853T>C
n.6905T>C
n.132+3080A>G
 gnomAD v4
2g.215376617A>TCA350471608FN1c.5768T>A (p.Ile1923Asn)
c.5495T>A (p.Ile1832Asn)
c.5225T>A (p.Ile1742Asn)
c.5498T>A (p.Ile1833Asn)
c.1646T>A (p.Ile549Asn)
n.853T>A
n.6905T>A
n.132+3080A>T
2g.215376618T>ACA350471613FN1c.5767A>T (p.Ile1923Phe)
c.5494A>T (p.Ile1832Phe)
c.5224A>T (p.Ile1742Phe)
c.5497A>T (p.Ile1833Phe)
c.1645A>T (p.Ile549Phe)
n.852A>T
n.6904A>T
n.132+3081T>A
2g.215376618T>CCA350471615FN1c.5767A>G (p.Ile1923Val)
c.5494A>G (p.Ile1832Val)
c.5224A>G (p.Ile1742Val)
c.5497A>G (p.Ile1833Val)
c.1645A>G (p.Ile549Val)
n.852A>G
n.6904A>G
n.132+3081T>C
 gnomAD v4
2g.215376618T>GCA350471618FN1c.5767A>C (p.Ile1923Leu)
c.5494A>C (p.Ile1832Leu)
c.5224A>C (p.Ile1742Leu)
c.5497A>C (p.Ile1833Leu)
c.1645A>C (p.Ile549Leu)
n.852A>C
n.6904A>C
n.132+3081T>G
2g.215376619G>ACA431155011FN1c.5766C>T (p.Thr1922=)
c.5493C>T (p.Thr1831=)
c.5223C>T (p.Thr1741=)
c.5496C>T (p.Thr1832=)
c.1644C>T (p.Thr548=)
n.851C>T
n.6903C>T
n.132+3082G>A
2g.215376619G>CCA431155012FN1c.5766C>G (p.Thr1922=)
c.5493C>G (p.Thr1831=)
c.5223C>G (p.Thr1741=)
c.5496C>G (p.Thr1832=)
c.1644C>G (p.Thr548=)
n.851C>G
n.6903C>G
n.132+3082G>C
2g.215376619G>TCA431155013FN1c.5766C>A (p.Thr1922=)
c.5493C>A (p.Thr1831=)
c.5223C>A (p.Thr1741=)
c.5496C>A (p.Thr1832=)
c.1644C>A (p.Thr548=)
n.851C>A
n.6903C>A
n.132+3082G>T
2g.215376620G>ACA350471623FN1c.5765C>T (p.Thr1922Ile)
c.5492C>T (p.Thr1831Ile)
c.5222C>T (p.Thr1741Ile)
c.5495C>T (p.Thr1832Ile)
c.1643C>T (p.Thr548Ile)
n.850C>T
n.6902C>T
n.132+3083G>A
 dbSNP gnomAD v3 gnomAD v4
2g.215376620G>CCA350471624FN1c.5765C>G (p.Thr1922Ser)
c.5492C>G (p.Thr1831Ser)
c.5222C>G (p.Thr1741Ser)
c.5495C>G (p.Thr1832Ser)
c.1643C>G (p.Thr548Ser)
n.850C>G
n.6902C>G
n.132+3083G>C
2g.215376620G=CA1327346885FN1c.5765C= (p.Thr1922=)
c.5492C= (p.Thr1831=)
c.5222C= (p.Thr1741=)
c.5495C= (p.Thr1832=)
c.1643C= (p.Thr548=)
n.850C=
n.6902C=
n.132+3083G=
2g.215376620G>TCA2094034FN1c.5765C>A (p.Thr1922Asn)
c.5492C>A (p.Thr1831Asn)
c.5222C>A (p.Thr1741Asn)
c.5495C>A (p.Thr1832Asn)
c.1643C>A (p.Thr548Asn)
n.850C>A
n.6902C>A
n.132+3083G>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376621T>ACA350471630FN1c.5764A>T (p.Thr1922Ser)
c.5491A>T (p.Thr1831Ser)
c.5221A>T (p.Thr1741Ser)
c.5494A>T (p.Thr1832Ser)
c.1642A>T (p.Thr548Ser)
n.849A>T
n.6901A>T
n.132+3084T>A
2g.215376621T>CCA350471627FN1c.5764A>G (p.Thr1922Ala)
c.5491A>G (p.Thr1831Ala)
c.5221A>G (p.Thr1741Ala)
c.5494A>G (p.Thr1832Ala)
c.1642A>G (p.Thr548Ala)
n.849A>G
n.6901A>G
n.132+3084T>C
2g.215376621T>GCA350471628FN1c.5764A>C (p.Thr1922Pro)
c.5491A>C (p.Thr1831Pro)
c.5221A>C (p.Thr1741Pro)
c.5494A>C (p.Thr1832Pro)
c.1642A>C (p.Thr548Pro)
n.849A>C
n.6901A>C
n.132+3084T>G
2g.215376622G>ACA431155014FN1c.5763C>T (p.Ile1921=)
c.5490C>T (p.Ile1830=)
c.5220C>T (p.Ile1740=)
c.5493C>T (p.Ile1831=)
c.1641C>T (p.Ile547=)
n.848C>T
n.6900C>T
n.132+3085G>A
2g.215376622G>CCA350471632FN1c.5763C>G (p.Ile1921Met)
c.5490C>G (p.Ile1830Met)
c.5220C>G (p.Ile1740Met)
c.5493C>G (p.Ile1831Met)
c.1641C>G (p.Ile547Met)
n.848C>G
n.6900C>G
n.132+3085G>C
2g.215376622G>TCA431155015FN1c.5763C>A (p.Ile1921=)
c.5490C>A (p.Ile1830=)
c.5220C>A (p.Ile1740=)
c.5493C>A (p.Ile1831=)
c.1641C>A (p.Ile547=)
n.848C>A
n.6900C>A
n.132+3085G>T
2g.215376623A>CCA350471633FN1c.5762T>G (p.Ile1921Ser)
c.5489T>G (p.Ile1830Ser)
c.5219T>G (p.Ile1740Ser)
c.5492T>G (p.Ile1831Ser)
c.1640T>G (p.Ile547Ser)
n.847T>G
n.6899T>G
n.132+3086A>C
2g.215376623A>GCA350471634FN1c.5762T>C (p.Ile1921Thr)
c.5489T>C (p.Ile1830Thr)
c.5219T>C (p.Ile1740Thr)
c.5492T>C (p.Ile1831Thr)
c.1640T>C (p.Ile547Thr)
n.847T>C
n.6899T>C
n.132+3086A>G
2g.215376623A>TCA350471635FN1c.5762T>A (p.Ile1921Asn)
c.5489T>A (p.Ile1830Asn)
c.5219T>A (p.Ile1740Asn)
c.5492T>A (p.Ile1831Asn)
c.1640T>A (p.Ile547Asn)
n.847T>A
n.6899T>A
n.132+3086A>T
2g.215376624T>ACA2094035FN1c.5761A>T (p.Ile1921Phe)
c.5488A>T (p.Ile1830Phe)
c.5218A>T (p.Ile1740Phe)
c.5491A>T (p.Ile1831Phe)
c.1639A>T (p.Ile547Phe)
n.846A>T
n.6898A>T
n.132+3087T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376624T>CCA64850099FN1c.5761A>G (p.Ile1921Val)
c.5488A>G (p.Ile1830Val)
c.5218A>G (p.Ile1740Val)
c.5491A>G (p.Ile1831Val)
c.1639A>G (p.Ile547Val)
n.846A>G
n.6898A>G
n.132+3087T>C
 dbSNP gnomAD v4
2g.215376624T>GCA350471640FN1c.5761A>C (p.Ile1921Leu)
c.5488A>C (p.Ile1830Leu)
c.5218A>C (p.Ile1740Leu)
c.5491A>C (p.Ile1831Leu)
c.1639A>C (p.Ile547Leu)
n.846A>C
n.6898A>C
n.132+3087T>G
2g.215376624T=CA1327346886FN1c.5761A= (p.Ile1921=)
c.5488A= (p.Ile1830=)
c.5218A= (p.Ile1740=)
c.5491A= (p.Ile1831=)
c.1639A= (p.Ile547=)
n.846A=
n.6898A=
n.132+3087T=
2g.215376625G>ACA431155016FN1c.5760C>T (p.Thr1920=)
c.5487C>T (p.Thr1829=)
c.5217C>T (p.Thr1739=)
c.5490C>T (p.Thr1830=)
c.1638C>T (p.Thr546=)
n.845C>T
n.6897C>T
n.132+3088G>A
2g.215376625G>CCA431155017FN1c.5760C>G (p.Thr1920=)
c.5487C>G (p.Thr1829=)
c.5217C>G (p.Thr1739=)
c.5490C>G (p.Thr1830=)
c.1638C>G (p.Thr546=)
n.845C>G
n.6897C>G
n.132+3088G>C
2g.215376625G>TCA431155018FN1c.5760C>A (p.Thr1920=)
c.5487C>A (p.Thr1829=)
c.5217C>A (p.Thr1739=)
c.5490C>A (p.Thr1830=)
c.1638C>A (p.Thr546=)
n.845C>A
n.6897C>A
n.132+3088G>T
 COSMIC COSMIC
2g.215376626G>ACA350471642FN1c.5759C>T (p.Thr1920Ile)
c.5486C>T (p.Thr1829Ile)
c.5216C>T (p.Thr1739Ile)
c.5489C>T (p.Thr1830Ile)
c.1637C>T (p.Thr546Ile)
n.844C>T
n.6896C>T
n.132+3089G>A
2g.215376626G>CCA350471644FN1c.5759C>G (p.Thr1920Ser)
c.5486C>G (p.Thr1829Ser)
c.5216C>G (p.Thr1739Ser)
c.5489C>G (p.Thr1830Ser)
c.1637C>G (p.Thr546Ser)
n.844C>G
n.6896C>G
n.132+3089G>C
2g.215376626G>TCA350471646FN1c.5759C>A (p.Thr1920Asn)
c.5486C>A (p.Thr1829Asn)
c.5216C>A (p.Thr1739Asn)
c.5489C>A (p.Thr1830Asn)
c.1637C>A (p.Thr546Asn)
n.844C>A
n.6896C>A
n.132+3089G>T
2g.215376627T>ACA350471652FN1c.5758A>T (p.Thr1920Ser)
c.5485A>T (p.Thr1829Ser)
c.5215A>T (p.Thr1739Ser)
c.5488A>T (p.Thr1830Ser)
c.1636A>T (p.Thr546Ser)
n.843A>T
n.6895A>T
n.132+3090T>A
2g.215376627T>CCA350471649FN1c.5758A>G (p.Thr1920Ala)
c.5485A>G (p.Thr1829Ala)
c.5215A>G (p.Thr1739Ala)
c.5488A>G (p.Thr1830Ala)
c.1636A>G (p.Thr546Ala)
n.843A>G
n.6895A>G
n.132+3090T>C
 COSMIC COSMIC
2g.215376627T>GCA350471651FN1c.5758A>C (p.Thr1920Pro)
c.5485A>C (p.Thr1829Pro)
c.5215A>C (p.Thr1739Pro)
c.5488A>C (p.Thr1830Pro)
c.1636A>C (p.Thr546Pro)
n.843A>C
n.6895A>C
n.132+3090T>G
2g.215376628G>ACA431155019FN1c.5757C>T (p.Thr1919=)
c.5484C>T (p.Thr1828=)
c.5214C>T (p.Thr1738=)
c.5487C>T (p.Thr1829=)
c.1635C>T (p.Thr545=)
n.842C>T
n.6894C>T
n.132+3091G>A
 dbSNP gnomAD v3 gnomAD v4
2g.215376628G>CCA431155020FN1c.5757C>G (p.Thr1919=)
c.5484C>G (p.Thr1828=)
c.5214C>G (p.Thr1738=)
c.5487C>G (p.Thr1829=)
c.1635C>G (p.Thr545=)
n.842C>G
n.6894C>G
n.132+3091G>C
2g.215376628G=CA1327346887FN1c.5757C= (p.Thr1919=)
c.5484C= (p.Thr1828=)
c.5214C= (p.Thr1738=)
c.5487C= (p.Thr1829=)
c.1635C= (p.Thr545=)
n.842C=
n.6894C=
n.132+3091G=
2g.215376628G>TCA2094036FN1c.5757C>A (p.Thr1919=)
c.5484C>A (p.Thr1828=)
c.5214C>A (p.Thr1738=)
c.5487C>A (p.Thr1829=)
c.1635C>A (p.Thr545=)
n.842C>A
n.6894C>A
n.132+3091G>T
 dbSNP ExAC gnomAD v4
2g.215376629G>ACA350471655FN1c.5756C>T (p.Thr1919Ile)
c.5483C>T (p.Thr1828Ile)
c.5213C>T (p.Thr1738Ile)
c.5486C>T (p.Thr1829Ile)
c.1634C>T (p.Thr545Ile)
n.841C>T
n.6893C>T
n.132+3092G>A
2g.215376629G>CCA350471656FN1c.5756C>G (p.Thr1919Ser)
c.5483C>G (p.Thr1828Ser)
c.5213C>G (p.Thr1738Ser)
c.5486C>G (p.Thr1829Ser)
c.1634C>G (p.Thr545Ser)
n.841C>G
n.6893C>G
n.132+3092G>C
2g.215376629G>TCA350471658FN1c.5756C>A (p.Thr1919Asn)
c.5483C>A (p.Thr1828Asn)
c.5213C>A (p.Thr1738Asn)
c.5486C>A (p.Thr1829Asn)
c.1634C>A (p.Thr545Asn)
n.841C>A
n.6893C>A
n.132+3092G>T
2g.215376630T>ACA350471659FN1c.5755A>T (p.Thr1919Ser)
c.5482A>T (p.Thr1828Ser)
c.5212A>T (p.Thr1738Ser)
c.5485A>T (p.Thr1829Ser)
c.1633A>T (p.Thr545Ser)
n.840A>T
n.6892A>T
n.132+3093T>A
 ClinVar
2g.215376630T>CCA350471660FN1c.5755A>G (p.Thr1919Ala)
c.5482A>G (p.Thr1828Ala)
c.5212A>G (p.Thr1738Ala)
c.5485A>G (p.Thr1829Ala)
c.1633A>G (p.Thr545Ala)
n.840A>G
n.6892A>G
n.132+3093T>C
2g.215376630T>GCA350471663FN1c.5755A>C (p.Thr1919Pro)
c.5482A>C (p.Thr1828Pro)
c.5212A>C (p.Thr1738Pro)
c.5485A>C (p.Thr1829Pro)
c.1633A>C (p.Thr545Pro)
n.840A>C
n.6892A>C
n.132+3093T>G
2g.215376631C>ACA350471665FN1c.5754G>T (p.Glu1918Asp)
c.5481G>T (p.Glu1827Asp)
c.5211G>T (p.Glu1737Asp)
c.5484G>T (p.Glu1828Asp)
c.1632G>T (p.Glu544Asp)
n.839G>T
n.6891G>T
n.132+3094C>A
2g.215376631C=CA1327346888FN1c.5754G= (p.Glu1918=)
c.5481G= (p.Glu1827=)
c.5211G= (p.Glu1737=)
c.5484G= (p.Glu1828=)
c.1632G= (p.Glu544=)
n.839G=
n.6891G=
n.132+3094C=
2g.215376631C>GCA350471666FN1c.5754G>C (p.Glu1918Asp)
c.5481G>C (p.Glu1827Asp)
c.5211G>C (p.Glu1737Asp)
c.5484G>C (p.Glu1828Asp)
c.1632G>C (p.Glu544Asp)
n.839G>C
n.6891G>C
n.132+3094C>G
2g.215376631C>TCA431155021FN1c.5754G>A (p.Glu1918=)
c.5481G>A (p.Glu1827=)
c.5211G>A (p.Glu1737=)
c.5484G>A (p.Glu1828=)
c.1632G>A (p.Glu544=)
n.839G>A
n.6891G>A
n.132+3094C>T
 dbSNP gnomAD v2 gnomAD v4
2g.215376632T>ACA350471669FN1c.5753A>T (p.Glu1918Val)
c.5480A>T (p.Glu1827Val)
c.5210A>T (p.Glu1737Val)
c.5483A>T (p.Glu1828Val)
c.1631A>T (p.Glu544Val)
n.838A>T
n.6890A>T
n.132+3095T>A
2g.215376632T>CCA350471670FN1c.5753A>G (p.Glu1918Gly)
c.5480A>G (p.Glu1827Gly)
c.5210A>G (p.Glu1737Gly)
c.5483A>G (p.Glu1828Gly)
c.1631A>G (p.Glu544Gly)
n.838A>G
n.6890A>G
n.132+3095T>C
2g.215376632T>GCA350471672FN1c.5753A>C (p.Glu1918Ala)
c.5480A>C (p.Glu1827Ala)
c.5210A>C (p.Glu1737Ala)
c.5483A>C (p.Glu1828Ala)
c.1631A>C (p.Glu544Ala)
n.838A>C
n.6890A>C
n.132+3095T>G
2g.215376633C>ACA350471678FN1c.5752G>T (p.Glu1918Ter)
c.5479G>T (p.Glu1827Ter)
c.5209G>T (p.Glu1737Ter)
c.5482G>T (p.Glu1828Ter)
c.1630G>T (p.Glu544Ter)
n.837G>T
n.6889G>T
n.132+3096C>A
2g.215376633C>GCA350471680FN1c.5752G>C (p.Glu1918Gln)
c.5479G>C (p.Glu1827Gln)
c.5209G>C (p.Glu1737Gln)
c.5482G>C (p.Glu1828Gln)
c.1630G>C (p.Glu544Gln)
n.837G>C
n.6889G>C
n.132+3096C>G
2g.215376633C>TCA350471674FN1c.5752G>A (p.Glu1918Lys)
c.5479G>A (p.Glu1827Lys)
c.5209G>A (p.Glu1737Lys)
c.5482G>A (p.Glu1828Lys)
c.1630G>A (p.Glu544Lys)
n.837G>A
n.6889G>A
n.132+3096C>T
2g.215376634A=CA1327346889FN1c.5751T= (p.Thr1917=)
c.5478T= (p.Thr1826=)
c.5208T= (p.Thr1736=)
c.5481T= (p.Thr1827=)
c.1629T= (p.Thr543=)
n.836T=
n.6888T=
n.132+3097A=
2g.215376634A>CCA431155023FN1c.5751T>G (p.Thr1917=)
c.5478T>G (p.Thr1826=)
c.5208T>G (p.Thr1736=)
c.5481T>G (p.Thr1827=)
c.1629T>G (p.Thr543=)
n.836T>G
n.6888T>G
n.132+3097A>C
 dbSNP gnomAD v3 gnomAD v4
2g.215376634A>GCA431155024FN1c.5751T>C (p.Thr1917=)
c.5478T>C (p.Thr1826=)
c.5208T>C (p.Thr1736=)
c.5481T>C (p.Thr1827=)
c.1629T>C (p.Thr543=)
n.836T>C
n.6888T>C
n.132+3097A>G
2g.215376634A>TCA431155022FN1c.5751T>A (p.Thr1917=)
c.5478T>A (p.Thr1826=)
c.5208T>A (p.Thr1736=)
c.5481T>A (p.Thr1827=)
c.1629T>A (p.Thr543=)
n.836T>A
n.6888T>A
n.132+3097A>T
 dbSNP
2g.215376635G>ACA350471682FN1c.5750C>T (p.Thr1917Ile)
c.5477C>T (p.Thr1826Ile)
c.5207C>T (p.Thr1736Ile)
c.5480C>T (p.Thr1827Ile)
c.1628C>T (p.Thr543Ile)
n.835C>T
n.6887C>T
n.132+3098G>A
2g.215376635G>CCA350471684FN1c.5750C>G (p.Thr1917Ser)
c.5477C>G (p.Thr1826Ser)
c.5207C>G (p.Thr1736Ser)
c.5480C>G (p.Thr1827Ser)
c.1628C>G (p.Thr543Ser)
n.835C>G
n.6887C>G
n.132+3098G>C
2g.215376635G>TCA350471685FN1c.5750C>A (p.Thr1917Asn)
c.5477C>A (p.Thr1826Asn)
c.5207C>A (p.Thr1736Asn)
c.5480C>A (p.Thr1827Asn)
c.1628C>A (p.Thr543Asn)
n.835C>A
n.6887C>A
n.132+3098G>T
2g.215376636T>ACA350471687FN1c.5749A>T (p.Thr1917Ser)
c.5476A>T (p.Thr1826Ser)
c.5206A>T (p.Thr1736Ser)
c.5479A>T (p.Thr1827Ser)
c.1627A>T (p.Thr543Ser)
n.834A>T
n.6886A>T
n.132+3099T>A
2g.215376636T>CCA2094037FN1c.5749A>G (p.Thr1917Ala)
c.5476A>G (p.Thr1826Ala)
c.5206A>G (p.Thr1736Ala)
c.5479A>G (p.Thr1827Ala)
c.1627A>G (p.Thr543Ala)
n.834A>G
n.6886A>G
n.132+3099T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376636T>GCA350471689FN1c.5749A>C (p.Thr1917Pro)
c.5476A>C (p.Thr1826Pro)
c.5206A>C (p.Thr1736Pro)
c.5479A>C (p.Thr1827Pro)
c.1627A>C (p.Thr543Pro)
n.834A>C
n.6886A>C
n.132+3099T>G
2g.215376636T=CA1327346890FN1c.5749A= (p.Thr1917=)
c.5476A= (p.Thr1826=)
c.5206A= (p.Thr1736=)
c.5479A= (p.Thr1827=)
c.1627A= (p.Thr543=)
n.834A=
n.6886A=
n.132+3099T=
2g.215376637A>CCA431155025FN1c.5748T>G (p.Ala1916=)
c.5475T>G (p.Ala1825=)
c.5205T>G (p.Ala1735=)
c.5478T>G (p.Ala1826=)
c.1626T>G (p.Ala542=)
n.833T>G
n.6885T>G
n.132+3100A>C
2g.215376637A>GCA431155026FN1c.5748T>C (p.Ala1916=)
c.5475T>C (p.Ala1825=)
c.5205T>C (p.Ala1735=)
c.5478T>C (p.Ala1826=)
c.1626T>C (p.Ala542=)
n.833T>C
n.6885T>C
n.132+3100A>G
2g.215376637A>TCA431155027FN1c.5748T>A (p.Ala1916=)
c.5475T>A (p.Ala1825=)
c.5205T>A (p.Ala1735=)
c.5478T>A (p.Ala1826=)
c.1626T>A (p.Ala542=)
n.833T>A
n.6885T>A
n.132+3100A>T
2g.215376638G>ACA350471692FN1c.5747C>T (p.Ala1916Val)
c.5474C>T (p.Ala1825Val)
c.5204C>T (p.Ala1735Val)
c.5477C>T (p.Ala1826Val)
c.1625C>T (p.Ala542Val)
n.832C>T
n.6884C>T
n.132+3101G>A
 dbSNP gnomAD v3 gnomAD v4
2g.215376638G>CCA350471693FN1c.5747C>G (p.Ala1916Gly)
c.5474C>G (p.Ala1825Gly)
c.5204C>G (p.Ala1735Gly)
c.5477C>G (p.Ala1826Gly)
c.1625C>G (p.Ala542Gly)
n.832C>G
n.6884C>G
n.132+3101G>C
2g.215376638G=CA1327346891FN1c.5747C= (p.Ala1916=)
c.5474C= (p.Ala1825=)
c.5204C= (p.Ala1735=)
c.5477C= (p.Ala1826=)
c.1625C= (p.Ala542=)
n.832C=
n.6884C=
n.132+3101G=
2g.215376638G>TCA350471695FN1c.5747C>A (p.Ala1916Asp)
c.5474C>A (p.Ala1825Asp)
c.5204C>A (p.Ala1735Asp)
c.5477C>A (p.Ala1826Asp)
c.1625C>A (p.Ala542Asp)
n.832C>A
n.6884C>A
n.132+3101G>T
2g.215376639C>ACA350471697FN1c.5746G>T (p.Ala1916Ser)
c.5473G>T (p.Ala1825Ser)
c.5203G>T (p.Ala1735Ser)
c.5476G>T (p.Ala1826Ser)
c.1624G>T (p.Ala542Ser)
n.831G>T
n.6883G>T
n.132+3102C>A
2g.215376639C>GCA350471699FN1c.5746G>C (p.Ala1916Pro)
c.5473G>C (p.Ala1825Pro)
c.5203G>C (p.Ala1735Pro)
c.5476G>C (p.Ala1826Pro)
c.1624G>C (p.Ala542Pro)
n.831G>C
n.6883G>C
n.132+3102C>G
2g.215376639C>TCA350471708FN1c.5746G>A (p.Ala1916Thr)
c.5473G>A (p.Ala1825Thr)
c.5203G>A (p.Ala1735Thr)
c.5476G>A (p.Ala1826Thr)
c.1624G>A (p.Ala542Thr)
n.831G>A
n.6883G>A
n.132+3102C>T
2g.215376640A>CCA350471709FN1c.5745T>G (p.Asp1915Glu)
c.5472T>G (p.Asp1824Glu)
c.5202T>G (p.Asp1734Glu)
c.5475T>G (p.Asp1825Glu)
c.1623T>G (p.Asp541Glu)
n.830T>G
n.6882T>G
n.132+3103A>C
 COSMIC COSMIC
2g.215376640A>GCA431155028FN1c.5745T>C (p.Asp1915=)
c.5472T>C (p.Asp1824=)
c.5202T>C (p.Asp1734=)
c.5475T>C (p.Asp1825=)
c.1623T>C (p.Asp541=)
n.830T>C
n.6882T>C
n.132+3103A>G
 gnomAD v4
2g.215376640A>TCA350471710FN1c.5745T>A (p.Asp1915Glu)
c.5472T>A (p.Asp1824Glu)
c.5202T>A (p.Asp1734Glu)
c.5475T>A (p.Asp1825Glu)
c.1623T>A (p.Asp541Glu)
n.830T>A
n.6882T>A
n.132+3103A>T
2g.215376641T>ACA350471713FN1c.5744A>T (p.Asp1915Val)
c.5471A>T (p.Asp1824Val)
c.5201A>T (p.Asp1734Val)
c.5474A>T (p.Asp1825Val)
c.1622A>T (p.Asp541Val)
n.829A>T
n.6881A>T
n.132+3104T>A
2g.215376641T>CCA350471712FN1c.5744A>G (p.Asp1915Gly)
c.5471A>G (p.Asp1824Gly)
c.5201A>G (p.Asp1734Gly)
c.5474A>G (p.Asp1825Gly)
c.1622A>G (p.Asp541Gly)
n.829A>G
n.6881A>G
n.132+3104T>C
2g.215376641T>GCA350471711FN1c.5744A>C (p.Asp1915Ala)
c.5471A>C (p.Asp1824Ala)
c.5201A>C (p.Asp1734Ala)
c.5474A>C (p.Asp1825Ala)
c.1622A>C (p.Asp541Ala)
n.829A>C
n.6881A>C
n.132+3104T>G
2g.215376642C>ACA350471714FN1c.5743G>T (p.Asp1915Tyr)
c.5470G>T (p.Asp1824Tyr)
c.5200G>T (p.Asp1734Tyr)
c.5473G>T (p.Asp1825Tyr)
c.1621G>T (p.Asp541Tyr)
n.828G>T
n.6880G>T
n.132+3105C>A
2g.215376642C>GCA350471715FN1c.5743G>C (p.Asp1915His)
c.5470G>C (p.Asp1824His)
c.5200G>C (p.Asp1734His)
c.5473G>C (p.Asp1825His)
c.1621G>C (p.Asp541His)
n.828G>C
n.6880G>C
n.132+3105C>G
2g.215376642C>TCA350471716FN1c.5743G>A (p.Asp1915Asn)
c.5470G>A (p.Asp1824Asn)
c.5200G>A (p.Asp1734Asn)
c.5473G>A (p.Asp1825Asn)
c.1621G>A (p.Asp541Asn)
n.828G>A
n.6880G>A
n.132+3105C>T
2g.215376643T>ACA2094038FN1c.5742A>T (p.Thr1914=)
c.5469A>T (p.Thr1823=)
c.5199A>T (p.Thr1733=)
c.5472A>T (p.Thr1824=)
c.1620A>T (p.Thr540=)
n.827A>T
n.6879A>T
n.132+3106T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376643T>CCA431155029FN1c.5742A>G (p.Thr1914=)
c.5469A>G (p.Thr1823=)
c.5199A>G (p.Thr1733=)
c.5472A>G (p.Thr1824=)
c.1620A>G (p.Thr540=)
n.827A>G
n.6879A>G
n.132+3106T>C
 gnomAD v4
2g.215376643T>GCA431155030FN1c.5742A>C (p.Thr1914=)
c.5469A>C (p.Thr1823=)
c.5199A>C (p.Thr1733=)
c.5472A>C (p.Thr1824=)
c.1620A>C (p.Thr540=)
n.827A>C
n.6879A>C
n.132+3106T>G
2g.215376643T=CA1327346892FN1c.5742A= (p.Thr1914=)
c.5469A= (p.Thr1823=)
c.5199A= (p.Thr1733=)
c.5472A= (p.Thr1824=)
c.1620A= (p.Thr540=)
n.827A=
n.6879A=
n.132+3106T=
2g.215376644G>ACA350471717FN1c.5741C>T (p.Thr1914Ile)
c.5468C>T (p.Thr1823Ile)
c.5198C>T (p.Thr1733Ile)
c.5471C>T (p.Thr1824Ile)
c.1619C>T (p.Thr540Ile)
n.826C>T
n.6878C>T
n.132+3107G>A
 dbSNP gnomAD v4
2g.215376644G>CCA350471718FN1c.5741C>G (p.Thr1914Arg)
c.5468C>G (p.Thr1823Arg)
c.5198C>G (p.Thr1733Arg)
c.5471C>G (p.Thr1824Arg)
c.1619C>G (p.Thr540Arg)
n.826C>G
n.6878C>G
n.132+3107G>C
2g.215376644G=CA1327346893FN1c.5741C= (p.Thr1914=)
c.5468C= (p.Thr1823=)
c.5198C= (p.Thr1733=)
c.5471C= (p.Thr1824=)
c.1619C= (p.Thr540=)
n.826C=
n.6878C=
n.132+3107G=
2g.215376644G>TCA2094039FN1c.5741C>A (p.Thr1914Lys)
c.5468C>A (p.Thr1823Lys)
c.5198C>A (p.Thr1733Lys)
c.5471C>A (p.Thr1824Lys)
c.1619C>A (p.Thr540Lys)
n.826C>A
n.6878C>A
n.132+3107G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376645T>ACA350471719FN1c.5740A>T (p.Thr1914Ser)
c.5467A>T (p.Thr1823Ser)
c.5197A>T (p.Thr1733Ser)
c.5470A>T (p.Thr1824Ser)
c.1618A>T (p.Thr540Ser)
n.825A>T
n.6877A>T
n.132+3108T>A
2g.215376645T>CCA350471720FN1c.5740A>G (p.Thr1914Ala)
c.5467A>G (p.Thr1823Ala)
c.5197A>G (p.Thr1733Ala)
c.5470A>G (p.Thr1824Ala)
c.1618A>G (p.Thr540Ala)
n.825A>G
n.6877A>G
n.132+3108T>C
2g.215376645T>GCA350471721FN1c.5740A>C (p.Thr1914Pro)
c.5467A>C (p.Thr1823Pro)
c.5197A>C (p.Thr1733Pro)
c.5470A>C (p.Thr1824Pro)
c.1618A>C (p.Thr540Pro)
n.825A>C
n.6877A>C
n.132+3108T>G
2g.215376646C>ACA431155031FN1c.5739G>T (p.Val1913=)
c.5466G>T (p.Val1822=)
c.5196G>T (p.Val1732=)
c.5469G>T (p.Val1823=)
c.1617G>T (p.Val539=)
n.824G>T
n.6876G>T
n.132+3109C>A
2g.215376646C>GCA431155032FN1c.5739G>C (p.Val1913=)
c.5466G>C (p.Val1822=)
c.5196G>C (p.Val1732=)
c.5469G>C (p.Val1823=)
c.1617G>C (p.Val539=)
n.824G>C
n.6876G>C
n.132+3109C>G
2g.215376646C>TCA431155033FN1c.5739G>A (p.Val1913=)
c.5466G>A (p.Val1822=)
c.5196G>A (p.Val1732=)
c.5469G>A (p.Val1823=)
c.1617G>A (p.Val539=)
n.824G>A
n.6876G>A
n.132+3109C>T
2g.215376647A>CCA350471722FN1c.5738T>G (p.Val1913Gly)
c.5465T>G (p.Val1822Gly)
c.5195T>G (p.Val1732Gly)
c.5468T>G (p.Val1823Gly)
c.1616T>G (p.Val539Gly)
n.823T>G
n.6875T>G
n.132+3110A>C
2g.215376647A>GCA350471723FN1c.5738T>C (p.Val1913Ala)
c.5465T>C (p.Val1822Ala)
c.5195T>C (p.Val1732Ala)
c.5468T>C (p.Val1823Ala)
c.1616T>C (p.Val539Ala)
n.823T>C
n.6875T>C
n.132+3110A>G
2g.215376647A>TCA350471724FN1c.5738T>A (p.Val1913Glu)
c.5465T>A (p.Val1822Glu)
c.5195T>A (p.Val1732Glu)
c.5468T>A (p.Val1823Glu)
c.1616T>A (p.Val539Glu)
n.823T>A
n.6875T>A
n.132+3110A>T
2g.215376648C>ACA350471725FN1c.5737G>T (p.Val1913Leu)
c.5464G>T (p.Val1822Leu)
c.5194G>T (p.Val1732Leu)
c.5467G>T (p.Val1823Leu)
c.1615G>T (p.Val539Leu)
n.822G>T
n.6874G>T
n.132+3111C>A
2g.215376648C>GCA350471727FN1c.5737G>C (p.Val1913Leu)
c.5464G>C (p.Val1822Leu)
c.5194G>C (p.Val1732Leu)
c.5467G>C (p.Val1823Leu)
c.1615G>C (p.Val539Leu)
n.822G>C
n.6874G>C
n.132+3111C>G
2g.215376648C>TCA350471726FN1c.5737G>A (p.Val1913Met)
c.5464G>A (p.Val1822Met)
c.5194G>A (p.Val1732Met)
c.5467G>A (p.Val1823Met)
c.1615G>A (p.Val539Met)
n.822G>A
n.6874G>A
n.132+3111C>T
 gnomAD v4 COSMIC
2g.215376649A>CCA431155034FN1c.5736T>G (p.Arg1912=)
c.5463T>G (p.Arg1821=)
c.5193T>G (p.Arg1731=)
c.5466T>G (p.Arg1822=)
c.1614T>G (p.Arg538=)
n.821T>G
n.6873T>G
n.132+3112A>C
2g.215376649A>GCA431155035FN1c.5736T>C (p.Arg1912=)
c.5463T>C (p.Arg1821=)
c.5193T>C (p.Arg1731=)
c.5466T>C (p.Arg1822=)
c.1614T>C (p.Arg538=)
n.821T>C
n.6873T>C
n.132+3112A>G
2g.215376649A>TCA431155036FN1c.5736T>A (p.Arg1912=)
c.5463T>A (p.Arg1821=)
c.5193T>A (p.Arg1731=)
c.5466T>A (p.Arg1822=)
c.1614T>A (p.Arg538=)
n.821T>A
n.6873T>A
n.132+3112A>T
2g.215376650C>ACA350471728FN1c.5735G>T (p.Arg1912Leu)
c.5462G>T (p.Arg1821Leu)
c.5192G>T (p.Arg1731Leu)
c.5465G>T (p.Arg1822Leu)
c.1613G>T (p.Arg538Leu)
n.820G>T
n.6872G>T
n.132+3113C>A
2g.215376650C=CA1327346894FN1c.5735G= (p.Arg1912=)
c.5462G= (p.Arg1821=)
c.5192G= (p.Arg1731=)
c.5465G= (p.Arg1822=)
c.1613G= (p.Arg538=)
n.820G=
n.6872G=
n.132+3113C=
2g.215376650C>GCA2094040FN1c.5735G>C (p.Arg1912Pro)
c.5462G>C (p.Arg1821Pro)
c.5192G>C (p.Arg1731Pro)
c.5465G>C (p.Arg1822Pro)
c.1613G>C (p.Arg538Pro)
n.820G>C
n.6872G>C
n.132+3113C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376650C>TCA2094041FN1c.5735G>A (p.Arg1912His)
c.5462G>A (p.Arg1821His)
c.5192G>A (p.Arg1731His)
c.5465G>A (p.Arg1822His)
c.1613G>A (p.Arg538His)
n.820G>A
n.6872G>A
n.132+3113C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376651G>ACA2094042FN1c.5734C>T (p.Arg1912Cys)
c.5461C>T (p.Arg1821Cys)
c.5191C>T (p.Arg1731Cys)
c.5464C>T (p.Arg1822Cys)
c.1612C>T (p.Arg538Cys)
n.819C>T
n.6871C>T
n.132+3114G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376651G>CCA350471730FN1c.5734C>G (p.Arg1912Gly)
c.5461C>G (p.Arg1821Gly)
c.5191C>G (p.Arg1731Gly)
c.5464C>G (p.Arg1822Gly)
c.1612C>G (p.Arg538Gly)
n.819C>G
n.6871C>G
n.132+3114G>C
2g.215376651G=CA1327346895FN1c.5734C= (p.Arg1912=)
c.5461C= (p.Arg1821=)
c.5191C= (p.Arg1731=)
c.5464C= (p.Arg1822=)
c.1612C= (p.Arg538=)
n.819C=
n.6871C=
n.132+3114G=
2g.215376651G>TCA350471729FN1c.5734C>A (p.Arg1912Ser)
c.5461C>A (p.Arg1821Ser)
c.5191C>A (p.Arg1731Ser)
c.5464C>A (p.Arg1822Ser)
c.1612C>A (p.Arg538Ser)
n.819C>A
n.6871C>A
n.132+3114G>T
2g.215376652A>CCA431155037FN1c.5733T>G (p.Ala1911=)
c.5460T>G (p.Ala1820=)
c.5190T>G (p.Ala1730=)
c.5463T>G (p.Ala1821=)
c.1611T>G (p.Ala537=)
n.818T>G
n.6870T>G
n.132+3115A>C
 gnomAD v4
2g.215376652A>GCA431155038FN1c.5733T>C (p.Ala1911=)
c.5460T>C (p.Ala1820=)
c.5190T>C (p.Ala1730=)
c.5463T>C (p.Ala1821=)
c.1611T>C (p.Ala537=)
n.818T>C
n.6870T>C
n.132+3115A>G
2g.215376652A>TCA431155039FN1c.5733T>A (p.Ala1911=)
c.5460T>A (p.Ala1820=)
c.5190T>A (p.Ala1730=)
c.5463T>A (p.Ala1821=)
c.1611T>A (p.Ala537=)
n.818T>A
n.6870T>A
n.132+3115A>T
2g.215376653G>ACA2094043FN1c.5732C>T (p.Ala1911Val)
c.5459C>T (p.Ala1820Val)
c.5189C>T (p.Ala1730Val)
c.5462C>T (p.Ala1821Val)
c.1610C>T (p.Ala537Val)
n.817C>T
n.6869C>T
n.132+3116G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376653G>CCA350471732FN1c.5732C>G (p.Ala1911Gly)
c.5459C>G (p.Ala1820Gly)
c.5189C>G (p.Ala1730Gly)
c.5462C>G (p.Ala1821Gly)
c.1610C>G (p.Ala537Gly)
n.817C>G
n.6869C>G
n.132+3116G>C
2g.215376653G=CA1327346896FN1c.5732C= (p.Ala1911=)
c.5459C= (p.Ala1820=)
c.5189C= (p.Ala1730=)
c.5462C= (p.Ala1821=)
c.1610C= (p.Ala537=)
n.817C=
n.6869C=
n.132+3116G=
2g.215376653G>TCA350471731FN1c.5732C>A (p.Ala1911Asp)
c.5459C>A (p.Ala1820Asp)
c.5189C>A (p.Ala1730Asp)
c.5462C>A (p.Ala1821Asp)
c.1610C>A (p.Ala537Asp)
n.817C>A
n.6869C>A
n.132+3116G>T
2g.215376654C>ACA350471733FN1c.5731G>T (p.Ala1911Ser)
c.5458G>T (p.Ala1820Ser)
c.5188G>T (p.Ala1730Ser)
c.5461G>T (p.Ala1821Ser)
c.1609G>T (p.Ala537Ser)
n.816G>T
n.6868G>T
n.132+3117C>A
2g.215376654C=CA1327346897FN1c.5731G= (p.Ala1911=)
c.5458G= (p.Ala1820=)
c.5188G= (p.Ala1730=)
c.5461G= (p.Ala1821=)
c.1609G= (p.Ala537=)
n.816G=
n.6868G=
n.132+3117C=
2g.215376654C>GCA2094044FN1c.5731G>C (p.Ala1911Pro)
c.5458G>C (p.Ala1820Pro)
c.5188G>C (p.Ala1730Pro)
c.5461G>C (p.Ala1821Pro)
c.1609G>C (p.Ala537Pro)
n.816G>C
n.6868G>C
n.132+3117C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376654C>TCA350471734FN1c.5731G>A (p.Ala1911Thr)
c.5458G>A (p.Ala1820Thr)
c.5188G>A (p.Ala1730Thr)
c.5461G>A (p.Ala1821Thr)
c.1609G>A (p.Ala537Thr)
n.816G>A
n.6868G>A
n.132+3117C>T
2g.215376655C>ACA350471735FN1c.5730G>T (p.Arg1910Ser)
c.5457G>T (p.Arg1819Ser)
c.5187G>T (p.Arg1729Ser)
c.5460G>T (p.Arg1820Ser)
c.1608G>T (p.Arg536Ser)
n.815G>T
n.6867G>T
n.132+3118C>A
2g.215376655C=CA1327346898FN1c.5730G= (p.Arg1910=)
c.5457G= (p.Arg1819=)
c.5187G= (p.Arg1729=)
c.5460G= (p.Arg1820=)
c.1608G= (p.Arg536=)
n.815G=
n.6867G=
n.132+3118C=
2g.215376655C>GCA350471736FN1c.5730G>C (p.Arg1910Ser)
c.5457G>C (p.Arg1819Ser)
c.5187G>C (p.Arg1729Ser)
c.5460G>C (p.Arg1820Ser)
c.1608G>C (p.Arg536Ser)
n.815G>C
n.6867G>C
n.132+3118C>G
2g.215376655C>TCA431155040FN1c.5730G>A (p.Arg1910=)
c.5457G>A (p.Arg1819=)
c.5187G>A (p.Arg1729=)
c.5460G>A (p.Arg1820=)
c.1608G>A (p.Arg536=)
n.815G>A
n.6867G>A
n.132+3118C>T
 dbSNP gnomAD v2 gnomAD v4
2g.215376656C>ACA350471737FN1c.5729G>T (p.Arg1910Met)
c.5456G>T (p.Arg1819Met)
c.5186G>T (p.Arg1729Met)
c.5459G>T (p.Arg1820Met)
c.1607G>T (p.Arg536Met)
n.814G>T
n.6866G>T
n.132+3119C>A
2g.215376656C>GCA350471738FN1c.5729G>C (p.Arg1910Thr)
c.5456G>C (p.Arg1819Thr)
c.5186G>C (p.Arg1729Thr)
c.5459G>C (p.Arg1820Thr)
c.1607G>C (p.Arg536Thr)
n.814G>C
n.6866G>C
n.132+3119C>G
2g.215376656C>TCA350471739FN1c.5729G>A (p.Arg1910Lys)
c.5456G>A (p.Arg1819Lys)
c.5186G>A (p.Arg1729Lys)
c.5459G>A (p.Arg1820Lys)
c.1607G>A (p.Arg536Lys)
n.814G>A
n.6866G>A
n.132+3119C>T
2g.215376657T>ACA350471740FN1c.5728A>T (p.Arg1910Trp)
c.5455A>T (p.Arg1819Trp)
c.5185A>T (p.Arg1729Trp)
c.5458A>T (p.Arg1820Trp)
c.1606A>T (p.Arg536Trp)
n.813A>T
n.6865A>T
n.132+3120T>A
2g.215376657T>CCA350471741FN1c.5728A>G (p.Arg1910Gly)
c.5455A>G (p.Arg1819Gly)
c.5185A>G (p.Arg1729Gly)
c.5458A>G (p.Arg1820Gly)
c.1606A>G (p.Arg536Gly)
n.813A>G
n.6865A>G
n.132+3120T>C
2g.215376657T>GCA431155041FN1c.5728A>C (p.Arg1910=)
c.5455A>C (p.Arg1819=)
c.5185A>C (p.Arg1729=)
c.5458A>C (p.Arg1820=)
c.1606A>C (p.Arg536=)
n.813A>C
n.6865A>C
n.132+3120T>G
2g.215376658T>ACA350471742FN1c.5727A>T (p.Arg1909Ser)
c.5454A>T (p.Arg1818Ser)
c.5184A>T (p.Arg1728Ser)
c.5457A>T (p.Arg1819Ser)
c.1605A>T (p.Arg535Ser)
n.812A>T
n.6864A>T
n.132+3121T>A
2g.215376658T>CCA431155042FN1c.5727A>G (p.Arg1909=)
c.5454A>G (p.Arg1818=)
c.5184A>G (p.Arg1728=)
c.5457A>G (p.Arg1819=)
c.1605A>G (p.Arg535=)
n.812A>G
n.6864A>G
n.132+3121T>C
2g.215376658T>GCA350471743FN1c.5727A>C (p.Arg1909Ser)
c.5454A>C (p.Arg1818Ser)
c.5184A>C (p.Arg1728Ser)
c.5457A>C (p.Arg1819Ser)
c.1605A>C (p.Arg535Ser)
n.812A>C
n.6864A>C
n.132+3121T>G
2g.215376659C>ACA350471744FN1c.5726G>T (p.Arg1909Ile)
c.5453G>T (p.Arg1818Ile)
c.5183G>T (p.Arg1728Ile)
c.5456G>T (p.Arg1819Ile)
c.1604G>T (p.Arg535Ile)
n.811G>T
n.6863G>T
n.132+3122C>A
2g.215376659C>GCA350471745FN1c.5726G>C (p.Arg1909Thr)
c.5453G>C (p.Arg1818Thr)
c.5183G>C (p.Arg1728Thr)
c.5456G>C (p.Arg1819Thr)
c.1604G>C (p.Arg535Thr)
n.811G>C
n.6863G>C
n.132+3122C>G
2g.215376659C>TCA350471746FN1c.5726G>A (p.Arg1909Lys)
c.5453G>A (p.Arg1818Lys)
c.5183G>A (p.Arg1728Lys)
c.5456G>A (p.Arg1819Lys)
c.1604G>A (p.Arg535Lys)
n.811G>A
n.6863G>A
n.132+3122C>T
 gnomAD v4
2g.215376660T>ACA350471747FN1c.5725A>T (p.Arg1909Ter)
c.5452A>T (p.Arg1818Ter)
c.5182A>T (p.Arg1728Ter)
c.5455A>T (p.Arg1819Ter)
c.1603A>T (p.Arg535Ter)
n.810A>T
n.6862A>T
n.132+3123T>A
2g.215376660T>CCA350471748FN1c.5725A>G (p.Arg1909Gly)
c.5452A>G (p.Arg1818Gly)
c.5182A>G (p.Arg1728Gly)
c.5455A>G (p.Arg1819Gly)
c.1603A>G (p.Arg535Gly)
n.810A>G
n.6862A>G
n.132+3123T>C
2g.215376660T>GCA431155043FN1c.5725A>C (p.Arg1909=)
c.5452A>C (p.Arg1818=)
c.5182A>C (p.Arg1728=)
c.5455A>C (p.Arg1819=)
c.1603A>C (p.Arg535=)
n.810A>C
n.6862A>C
n.132+3123T>G
2g.215376661T>ACA431155044FN1c.5724A>T (p.Pro1908=)
c.5451A>T (p.Pro1817=)
c.5181A>T (p.Pro1727=)
c.5454A>T (p.Pro1818=)
c.1602A>T (p.Pro534=)
n.809A>T
n.6861A>T
n.132+3124T>A
2g.215376661T>CCA431155045FN1c.5724A>G (p.Pro1908=)
c.5451A>G (p.Pro1817=)
c.5181A>G (p.Pro1727=)
c.5454A>G (p.Pro1818=)
c.1602A>G (p.Pro534=)
n.809A>G
n.6861A>G
n.132+3124T>C
2g.215376661T>GCA431155046FN1c.5724A>C (p.Pro1908=)
c.5451A>C (p.Pro1817=)
c.5181A>C (p.Pro1727=)
c.5454A>C (p.Pro1818=)
c.1602A>C (p.Pro534=)
n.809A>C
n.6861A>C
n.132+3124T>G
2g.215376662G>ACA350471751FN1c.5723C>T (p.Pro1908Leu)
c.5450C>T (p.Pro1817Leu)
c.5180C>T (p.Pro1727Leu)
c.5453C>T (p.Pro1818Leu)
c.1601C>T (p.Pro534Leu)
n.808C>T
n.6860C>T
n.132+3125G>A
2g.215376662G>CCA350471749FN1c.5723C>G (p.Pro1908Arg)
c.5450C>G (p.Pro1817Arg)
c.5180C>G (p.Pro1727Arg)
c.5453C>G (p.Pro1818Arg)
c.1601C>G (p.Pro534Arg)
n.808C>G
n.6860C>G
n.132+3125G>C
2g.215376662G>TCA350471750FN1c.5723C>A (p.Pro1908Gln)
c.5450C>A (p.Pro1817Gln)
c.5180C>A (p.Pro1727Gln)
c.5453C>A (p.Pro1818Gln)
c.1601C>A (p.Pro534Gln)
n.808C>A
n.6860C>A
n.132+3125G>T
2g.215376663G>ACA350471752FN1c.5722C>T (p.Pro1908Ser)
c.5449C>T (p.Pro1817Ser)
c.5179C>T (p.Pro1727Ser)
c.5452C>T (p.Pro1818Ser)
c.1600C>T (p.Pro534Ser)
n.807C>T
n.6859C>T
n.132+3126G>A
2g.215376663G>CCA350471753FN1c.5722C>G (p.Pro1908Ala)
c.5449C>G (p.Pro1817Ala)
c.5179C>G (p.Pro1727Ala)
c.5452C>G (p.Pro1818Ala)
c.1600C>G (p.Pro534Ala)
n.807C>G
n.6859C>G
n.132+3126G>C
2g.215376663G>TCA350471754FN1c.5722C>A (p.Pro1908Thr)
c.5449C>A (p.Pro1817Thr)
c.5179C>A (p.Pro1727Thr)
c.5452C>A (p.Pro1818Thr)
c.1600C>A (p.Pro534Thr)
n.807C>A
n.6859C>A
n.132+3126G>T
2g.215376664T>ACA431155047FN1c.5721A>T (p.Pro1907=)
c.5448A>T (p.Pro1816=)
c.5178A>T (p.Pro1726=)
c.5451A>T (p.Pro1817=)
c.1599A>T (p.Pro533=)
n.806A>T
n.6858A>T
n.132+3127T>A
2g.215376664T>CCA431155048FN1c.5721A>G (p.Pro1907=)
c.5448A>G (p.Pro1816=)
c.5178A>G (p.Pro1726=)
c.5451A>G (p.Pro1817=)
c.1599A>G (p.Pro533=)
n.806A>G
n.6858A>G
n.132+3127T>C
2g.215376664T>GCA431155049FN1c.5721A>C (p.Pro1907=)
c.5448A>C (p.Pro1816=)
c.5178A>C (p.Pro1726=)
c.5451A>C (p.Pro1817=)
c.1599A>C (p.Pro533=)
n.806A>C
n.6858A>C
n.132+3127T>G
2g.215376665G>ACA2094045FN1c.5720C>T (p.Pro1907Leu)
c.5447C>T (p.Pro1816Leu)
c.5177C>T (p.Pro1726Leu)
c.5450C>T (p.Pro1817Leu)
c.1598C>T (p.Pro533Leu)
n.805C>T
n.6857C>T
n.132+3128G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.215376665G>CCA350471755FN1c.5720C>G (p.Pro1907Arg)
c.5447C>G (p.Pro1816Arg)
c.5177C>G (p.Pro1726Arg)
c.5450C>G (p.Pro1817Arg)
c.1598C>G (p.Pro533Arg)
n.805C>G
n.6857C>G
n.132+3128G>C
2g.215376665G=CA1327346899FN1c.5720C= (p.Pro1907=)
c.5447C= (p.Pro1816=)
c.5177C= (p.Pro1726=)
c.5450C= (p.Pro1817=)
c.1598C= (p.Pro533=)
n.805C=
n.6857C=
n.132+3128G=
2g.215376665G>TCA350471756FN1c.5720C>A (p.Pro1907Gln)
c.5447C>A (p.Pro1816Gln)
c.5177C>A (p.Pro1726Gln)
c.5450C>A (p.Pro1817Gln)
c.1598C>A (p.Pro533Gln)
n.805C>A
n.6857C>A
n.132+3128G>T
 gnomAD v4
2g.215376666G>ACA350471757FN1c.5719C>T (p.Pro1907Ser)
c.5446C>T (p.Pro1816Ser)
c.5176C>T (p.Pro1726Ser)
c.5449C>T (p.Pro1817Ser)
c.1597C>T (p.Pro533Ser)
n.804C>T
n.6856C>T
n.132+3129G>A
 dbSNP
2g.215376666G>CCA350471758FN1c.5719C>G (p.Pro1907Ala)
c.5446C>G (p.Pro1816Ala)
c.5176C>G (p.Pro1726Ala)
c.5449C>G (p.Pro1817Ala)
c.1597C>G (p.Pro533Ala)
n.804C>G
n.6856C>G
n.132+3129G>C
2g.215376666G=CA1327346900FN1c.5719C= (p.Pro1907=)
c.5446C= (p.Pro1816=)
c.5176C= (p.Pro1726=)
c.5449C= (p.Pro1817=)
c.1597C= (p.Pro533=)
n.804C=
n.6856C=
n.132+3129G=
2g.215376666G>TCA350471759FN1c.5719C>A (p.Pro1907Thr)
c.5446C>A (p.Pro1816Thr)
c.5176C>A (p.Pro1726Thr)
c.5449C>A (p.Pro1817Thr)
c.1597C>A (p.Pro533Thr)
n.804C>A
n.6856C>A
n.132+3129G>T
2g.215376667G>ACA431155050FN1c.5718C>T (p.Ser1906=)
c.5445C>T (p.Ser1815=)
c.5175C>T (p.Ser1725=)
c.5448C>T (p.Ser1816=)
c.1596C>T (p.Ser532=)
n.803C>T
n.6855C>T
n.132+3130G>A
 gnomAD v4
2g.215376667G>CCA350471760FN1c.5718C>G (p.Ser1906Arg)
c.5445C>G (p.Ser1815Arg)
c.5175C>G (p.Ser1725Arg)
c.5448C>G (p.Ser1816Arg)
c.1596C>G (p.Ser532Arg)
n.803C>G
n.6855C>G
n.132+3130G>C
2g.215376667G>TCA350471761FN1c.5718C>A (p.Ser1906Arg)
c.5445C>A (p.Ser1815Arg)
c.5175C>A (p.Ser1725Arg)
c.5448C>A (p.Ser1816Arg)
c.1596C>A (p.Ser532Arg)
n.803C>A
n.6855C>A
n.132+3130G>T
2g.215376668C>ACA350471763FN1c.5717G>T (p.Ser1906Ile)
c.5444G>T (p.Ser1815Ile)
c.5174G>T (p.Ser1725Ile)
c.5447G>T (p.Ser1816Ile)
c.1595G>T (p.Ser532Ile)
n.802G>T
n.6854G>T
n.132+3131C>A
2g.215376668C=CA1327346901FN1c.5717G= (p.Ser1906=)
c.5444G= (p.Ser1815=)
c.5174G= (p.Ser1725=)
c.5447G= (p.Ser1816=)
c.1595G= (p.Ser532=)
n.802G=
n.6854G=
n.132+3131C=
2g.215376668C>GCA350471762FN1c.5717G>C (p.Ser1906Thr)
c.5444G>C (p.Ser1815Thr)
c.5174G>C (p.Ser1725Thr)
c.5447G>C (p.Ser1816Thr)
c.1595G>C (p.Ser532Thr)
n.802G>C
n.6854G>C
n.132+3131C>G
2g.215376668C>TCA2094046FN1c.5717G>A (p.Ser1906Asn)
c.5444G>A (p.Ser1815Asn)
c.5174G>A (p.Ser1725Asn)
c.5447G>A (p.Ser1816Asn)
c.1595G>A (p.Ser532Asn)
n.802G>A
n.6854G>A
n.132+3131C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.215376669T>ACA350471764FN1c.5716A>T (p.Ser1906Cys)
c.5443A>T (p.Ser1815Cys)
c.5173A>T (p.Ser1725Cys)
c.5446A>T (p.Ser1816Cys)
c.1594A>T (p.Ser532Cys)
n.801A>T
n.6853A>T
n.132+3132T>A
2g.215376669T>CCA350471765FN1c.5716A>G (p.Ser1906Gly)
c.5443A>G (p.Ser1815Gly)
c.5173A>G (p.Ser1725Gly)
c.5446A>G (p.Ser1816Gly)
c.1594A>G (p.Ser532Gly)
n.801A>G
n.6853A>G
n.132+3132T>C
 dbSNP gnomAD v2
2g.215376669T>GCA350471766FN1c.5716A>C (p.Ser1906Arg)
c.5443A>C (p.Ser1815Arg)
c.5173A>C (p.Ser1725Arg)
c.5446A>C (p.Ser1816Arg)
c.1594A>C (p.Ser532Arg)
n.801A>C
n.6853A>C
n.132+3132T>G
2g.215376669T=CA1327346902FN1c.5716A= (p.Ser1906=)
c.5443A= (p.Ser1815=)
c.5173A= (p.Ser1725=)
c.5446A= (p.Ser1816=)
c.1594A= (p.Ser532=)
n.801A=
n.6853A=
n.132+3132T=
2g.215376670G>ACA431155052FN1c.5715C>T (p.Val1905=)
c.5442C>T (p.Val1814=)
c.5172C>T (p.Val1724=)
c.5445C>T (p.Val1815=)
c.1593C>T (p.Val531=)
n.800C>T
n.6852C>T
n.132+3133G>A
 gnomAD v4
2g.215376670G>CCA431155053FN1c.5715C>G (p.Val1905=)
c.5442C>G (p.Val1814=)
c.5172C>G (p.Val1724=)
c.5445C>G (p.Val1815=)
c.1593C>G (p.Val531=)
n.800C>G
n.6852C>G
n.132+3133G>C
2g.215376670G>TCA431155051FN1c.5715C>A (p.Val1905=)
c.5442C>A (p.Val1814=)
c.5172C>A (p.Val1724=)
c.5445C>A (p.Val1815=)
c.1593C>A (p.Val531=)
n.800C>A
n.6852C>A
n.132+3133G>T
2g.215376671A=CA1327346903FN1c.5714T= (p.Val1905=)
c.5441T= (p.Val1814=)
c.5171T= (p.Val1724=)
c.5444T= (p.Val1815=)
c.1592T= (p.Val531=)
n.799T=
n.6851T=
n.132+3134A=
2g.215376671A>CCA350471767FN1c.5714T>G (p.Val1905Gly)
c.5441T>G (p.Val1814Gly)
c.5171T>G (p.Val1724Gly)
c.5444T>G (p.Val1815Gly)
c.1592T>G (p.Val531Gly)
n.799T>G
n.6851T>G
n.132+3134A>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215376671A>GCA350471768FN1c.5714T>C (p.Val1905Ala)
c.5441T>C (p.Val1814Ala)
c.5171T>C (p.Val1724Ala)
c.5444T>C (p.Val1815Ala)
c.1592T>C (p.Val531Ala)
n.799T>C
n.6851T>C
n.132+3134A>G
2g.215376671A>TCA350471769FN1c.5714T>A (p.Val1905Asp)
c.5441T>A (p.Val1814Asp)
c.5171T>A (p.Val1724Asp)
c.5444T>A (p.Val1815Asp)
c.1592T>A (p.Val531Asp)
n.799T>A
n.6851T>A
n.132+3134A>T
2g.215376672C>ACA350471770FN1c.5713G>T (p.Val1905Phe)
c.5440G>T (p.Val1814Phe)
c.5170G>T (p.Val1724Phe)
c.5443G>T (p.Val1815Phe)
c.1591G>T (p.Val531Phe)
n.798G>T
n.6850G>T
n.132+3135C>A
2g.215376672C>GCA350471771FN1c.5713G>C (p.Val1905Leu)
c.5440G>C (p.Val1814Leu)
c.5170G>C (p.Val1724Leu)
c.5443G>C (p.Val1815Leu)
c.1591G>C (p.Val531Leu)
n.798G>C
n.6850G>C
n.132+3135C>G
2g.215376672C>TCA350471772FN1c.5713G>A (p.Val1905Ile)
c.5440G>A (p.Val1814Ile)
c.5170G>A (p.Val1724Ile)
c.5443G>A (p.Val1815Ile)
c.1591G>A (p.Val531Ile)
n.798G>A
n.6850G>A
n.132+3135C>T
 gnomAD v4
2g.215376673A>CCA350471773FN1c.5712T>G (p.Asn1904Lys)
c.5439T>G (p.Asn1813Lys)
c.5169T>G (p.Asn1723Lys)
c.5442T>G (p.Asn1814Lys)
c.1590T>G (p.Asn530Lys)
n.797T>G
n.6849T>G
n.132+3136A>C
2g.215376673A>GCA431155054FN1c.5712T>C (p.Asn1904=)
c.5439T>C (p.Asn1813=)
c.5169T>C (p.Asn1723=)
c.5442T>C (p.Asn1814=)
c.1590T>C (p.Asn530=)
n.797T>C
n.6849T>C
n.132+3136A>G
2g.215376673A>TCA350471774FN1c.5712T>A (p.Asn1904Lys)
c.5439T>A (p.Asn1813Lys)
c.5169T>A (p.Asn1723Lys)
c.5442T>A (p.Asn1814Lys)
c.1590T>A (p.Asn530Lys)
n.797T>A
n.6849T>A
n.132+3136A>T
2g.215376674T>ACA350471777FN1c.5711A>T (p.Asn1904Ile)
c.5438A>T (p.Asn1813Ile)
c.5168A>T (p.Asn1723Ile)
c.5441A>T (p.Asn1814Ile)
c.1589A>T (p.Asn530Ile)
n.796A>T
n.6848A>T
n.132+3137T>A
2g.215376674T>CCA350471776FN1c.5711A>G (p.Asn1904Ser)
c.5438A>G (p.Asn1813Ser)
c.5168A>G (p.Asn1723Ser)
c.5441A>G (p.Asn1814Ser)
c.1589A>G (p.Asn530Ser)
n.796A>G
n.6848A>G
n.132+3137T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.215376674T>GCA350471775FN1c.5711A>C (p.Asn1904Thr)
c.5438A>C (p.Asn1813Thr)
c.5168A>C (p.Asn1723Thr)
c.5441A>C (p.Asn1814Thr)
c.1589A>C (p.Asn530Thr)
n.796A>C
n.6848A>C
n.132+3137T>G
2g.215376674T=CA1327346904FN1c.5711A= (p.Asn1904=)
c.5438A= (p.Asn1813=)
c.5168A= (p.Asn1723=)
c.5441A= (p.Asn1814=)
c.1589A= (p.Asn530=)
n.796A=
n.6848A=
n.132+3137T=

Number of alleles fetched