Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67940346C>ACA396376152LCATc.881G>T (p.Ser294Ile)
c.156-272G>T
c.665G>T (p.Ser222Ile)
c.619G>T (n.619G>T)
16g.67940346C>GCA396376153LCATc.881G>C (p.Ser294Thr)
c.156-272G>C
c.665G>C (p.Ser222Thr)
c.619G>C (n.619G>C)
16g.67940346C>TCA396376154LCATc.881G>A (p.Ser294Asn)
c.156-272G>A
c.665G>A (p.Ser222Asn)
c.619G>A (n.619G>A)
 gnomAD v4
16g.67940347T>ACA396376155LCATc.880A>T (p.Ser294Cys)
c.156-273A>T
c.664A>T (p.Ser222Cys)
c.618A>T (n.618A>T)
 gnomAD v4
16g.67940347T>CCA396376157LCATc.880A>G (p.Ser294Gly)
c.156-273A>G
c.664A>G (p.Ser222Gly)
c.618A>G (n.618A>G)
16g.67940347T>GCA396376156LCATc.880A>C (p.Ser294Arg)
c.156-273A>C
c.664A>C (p.Ser222Arg)
c.618A>C (n.618A>C)
16g.67940348G>ACA8120939LCATc.879C>T (p.Pro293=)
c.156-274C>T
c.663C>T (p.Pro221=)
c.617C>T (n.617C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940348G>CCA496383964LCATc.879C>G (p.Pro293=)
c.156-274C>G
c.663C>G (p.Pro221=)
c.617C>G (n.617C>G)
16g.67940348G=CA2229563316LCATc.879C= (p.Pro293=)
c.156-274C=
c.663C= (p.Pro221=)
c.617C= (n.617C=)
16g.67940348G>TCA496383967LCATc.879C>A (p.Pro293=)
c.156-274C>A
c.663C>A (p.Pro221=)
c.617C>A (n.617C>A)
16g.67940349G>ACA396376158LCATc.878C>T (p.Pro293Leu)
c.156-275C>T
c.662C>T (p.Pro221Leu)
c.616C>T (n.616C>T)
16g.67940349G>CCA396376159LCATc.878C>G (p.Pro293Arg)
c.156-275C>G
c.662C>G (p.Pro221Arg)
c.616C>G (n.616C>G)
16g.67940349G>TCA396376160LCATc.878C>A (p.Pro293His)
c.156-275C>A
c.662C>A (p.Pro221His)
c.616C>A (n.616C>A)
16g.67940350G>ACA396376161LCATc.877C>T (p.Pro293Ser)
c.156-276C>T
c.661C>T (p.Pro221Ser)
c.615C>T (n.615C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.67940350G>CCA396376162LCATc.877C>G (p.Pro293Ala)
c.156-276C>G
c.661C>G (p.Pro221Ala)
c.615C>G (n.615C>G)
 gnomAD v4
16g.67940350G=CA2229563317LCATc.877C= (p.Pro293=)
c.156-276C=
c.661C= (p.Pro221=)
c.615C= (n.615C=)
16g.67940350G>TCA396376163LCATc.877C>A (p.Pro293Thr)
c.156-276C>A
c.661C>A (p.Pro221Thr)
c.615C>A (n.615C>A)
16g.67940351T>ACA496383971LCATc.876A>T (p.Thr292=)
c.156-277A>T
c.660A>T (p.Thr220=)
c.614A>T (n.614A>T)
16g.67940351T>CCA496383970LCATc.876A>G (p.Thr292=)
c.156-277A>G
c.660A>G (p.Thr220=)
c.614A>G (n.614A>G)
 gnomAD v4
16g.67940351T>GCA496383969LCATc.876A>C (p.Thr292=)
c.156-277A>C
c.660A>C (p.Thr220=)
c.614A>C (n.614A>C)
 dbSNP
16g.67940351T=CA2229563318LCATc.876A= (p.Thr292=)
c.156-277A=
c.660A= (p.Thr220=)
c.614A= (n.614A=)
16g.67940351_67940365delinsTGTGGAAATGAACACCA2229563319LCATc.862_876delinsGTGTTCATTTCCACA (p.Val288=)
c.156-291_156-277delinsGTGTTCATTTCCACA
c.646_660delinsGTGTTCATTTCCACA (p.Val216=)
c.600_614delinsGTGTTCATTTCCACA (n.600_614delinsGTGTTCATTTCCACA)
16g.67940352G>ACA396376164LCATc.875C>T (p.Thr292Ile)
c.156-278C>T
c.659C>T (p.Thr220Ile)
c.613C>T (n.613C>T)
 gnomAD v4
16g.67940352G>CCA396376165LCATc.875C>G (p.Thr292Arg)
c.156-278C>G
c.659C>G (p.Thr220Arg)
c.613C>G (n.613C>G)
16g.67940352G>TCA396376166LCATc.875C>A (p.Thr292Lys)
c.156-278C>A
c.659C>A (p.Thr220Lys)
c.613C>A (n.613C>A)
16g.67940356_67940369delCA978460279LCATc.862_875del (p.Val288ThrfsTer9)
c.156-291_156-278del
c.646_659del (p.Val216ThrfsTer9)
c.600_613del (n.600_613del)
 dbSNP gnomAD v3 gnomAD v4
16g.67940353T>ACA396376169LCATc.874A>T (p.Thr292Ser)
c.156-279A>T
c.658A>T (p.Thr220Ser)
c.612A>T (n.612A>T)
16g.67940353T>CCA396376168LCATc.874A>G (p.Thr292Ala)
c.156-279A>G
c.658A>G (p.Thr220Ala)
c.612A>G (n.612A>G)
16g.67940353T>GCA396376167LCATc.874A>C (p.Thr292Pro)
c.156-279A>C
c.658A>C (p.Thr220Pro)
c.612A>C (n.612A>C)
16g.67940354G>ACA496383976LCATc.873C>T (p.Ser291=)
c.156-280C>T
c.657C>T (p.Ser219=)
c.611C>T (n.611C>T)
16g.67940354G>CCA283160943LCATc.873C>G (p.Ser291=)
c.156-280C>G
c.657C>G (p.Ser219=)
c.611C>G (n.611C>G)
 dbSNP gnomAD v4
16g.67940354G=CA2229563320LCATc.873C= (p.Ser291=)
c.156-280C=
c.657C= (p.Ser219=)
c.611C= (n.611C=)
16g.67940354G>TCA496383977LCATc.873C>A (p.Ser291=)
c.156-280C>A
c.657C>A (p.Ser219=)
c.611C>A (n.611C>A)
16g.67940355G>ACA396376170LCATc.872C>T (p.Ser291Phe)
c.156-281C>T
c.656C>T (p.Ser219Phe)
c.610C>T (n.610C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940355G>CCA396376171LCATc.872C>G (p.Ser291Cys)
c.156-281C>G
c.656C>G (p.Ser219Cys)
c.610C>G (n.610C>G)
16g.67940355G=CA2229563321LCATc.872C= (p.Ser291=)
c.156-281C=
c.656C= (p.Ser219=)
c.610C= (n.610C=)
16g.67940355G>TCA396376172LCATc.872C>A (p.Ser291Tyr)
c.156-281C>A
c.656C>A (p.Ser219Tyr)
c.610C>A (n.610C>A)
16g.67940356A>CCA396376173LCATc.871T>G (p.Ser291Ala)
c.156-282T>G
c.655T>G (p.Ser219Ala)
c.609T>G (n.609T>G)
16g.67940356A>GCA396376174LCATc.871T>C (p.Ser291Pro)
c.156-282T>C
c.655T>C (p.Ser219Pro)
c.609T>C (n.609T>C)
16g.67940356A>TCA396376175LCATc.871T>A (p.Ser291Thr)
c.156-282T>A
c.655T>A (p.Ser219Thr)
c.609T>A (n.609T>A)
16g.67940357A=CA2229563322LCATc.870T= (p.Ile290=)
c.156-283T=
c.654T= (p.Ile218=)
c.608T= (n.608T=)
16g.67940357A>CCA396376176LCATc.870T>G (p.Ile290Met)
c.156-283T>G
c.654T>G (p.Ile218Met)
c.608T>G (n.608T>G)
16g.67940357A>GCA496383980LCATc.870T>C (p.Ile290=)
c.156-283T>C
c.654T>C (p.Ile218=)
c.608T>C (n.608T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.67940357A>TCA283160951LCATc.870T>A (p.Ile290=)
c.156-283T>A
c.654T>A (p.Ile218=)
c.608T>A (n.608T>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940357_67940359dupCA2573054258LCATc.868_870dup (p.Ile290_Ser291insIle)
c.156-285_156-283dup
c.652_654dup (p.Ile218_Ser219insIle)
c.606_608dup (n.606_608dup)
 ClinVar dbSNP
16g.67940358A=CA2229563323LCATc.869T= (p.Ile290=)
c.156-284T=
c.653T= (p.Ile218=)
c.607T= (n.607T=)
16g.67940358A>CCA396376177LCATc.869T>G (p.Ile290Ser)
c.156-284T>G
c.653T>G (p.Ile218Ser)
c.607T>G (n.607T>G)
16g.67940358A>GCA396376178LCATc.869T>C (p.Ile290Thr)
c.156-284T>C
c.653T>C (p.Ile218Thr)
c.607T>C (n.607T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.67940358A>TCA396376179LCATc.869T>A (p.Ile290Asn)
c.156-284T>A
c.653T>A (p.Ile218Asn)
c.607T>A (n.607T>A)
16g.67940359T>ACA396376180LCATc.868A>T (p.Ile290Phe)
c.156-285A>T
c.652A>T (p.Ile218Phe)
c.606A>T (n.606A>T)
16g.67940359T>CCA8120940LCATc.868A>G (p.Ile290Val)
c.156-285A>G
c.652A>G (p.Ile218Val)
c.606A>G (n.606A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940359T>GCA396376181LCATc.868A>C (p.Ile290Leu)
c.156-285A>C
c.652A>C (p.Ile218Leu)
c.606A>C (n.606A>C)
16g.67940359T=CA2229563324LCATc.868A= (p.Ile290=)
c.156-285A=
c.652A= (p.Ile218=)
c.606A= (n.606A=)
16g.67940360G>ACA496383986LCATc.867C>T (p.Phe289=)
c.156-286C>T
c.651C>T (p.Phe217=)
c.605C>T (n.605C>T)
 gnomAD v4 COSMIC
16g.67940360G>CCA396376182LCATc.867C>G (p.Phe289Leu)
c.156-286C>G
c.651C>G (p.Phe217Leu)
c.605C>G (n.605C>G)
16g.67940360G=CA2229563325LCATc.867C= (p.Phe289=)
c.156-286C=
c.651C= (p.Phe217=)
c.605C= (n.605C=)
16g.67940360G>TCA8120941LCATc.867C>A (p.Phe289Leu)
c.156-286C>A
c.651C>A (p.Phe217Leu)
c.605C>A (n.605C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940361A>CCA396376183LCATc.866T>G (p.Phe289Cys)
c.156-287T>G
c.650T>G (p.Phe217Cys)
c.604T>G (n.604T>G)
16g.67940361A>GCA396376184LCATc.866T>C (p.Phe289Ser)
c.156-287T>C
c.650T>C (p.Phe217Ser)
c.604T>C (n.604T>C)
16g.67940361A>TCA396376185LCATc.866T>A (p.Phe289Tyr)
c.156-287T>A
c.650T>A (p.Phe217Tyr)
c.604T>A (n.604T>A)
16g.67940362A>CCA396376186LCATc.865T>G (p.Phe289Val)
c.156-288T>G
c.649T>G (p.Phe217Val)
c.603T>G (n.603T>G)
16g.67940362A>GCA396376187LCATc.865T>C (p.Phe289Leu)
c.156-288T>C
c.649T>C (p.Phe217Leu)
c.603T>C (n.603T>C)
16g.67940362A>TCA396376188LCATc.865T>A (p.Phe289Ile)
c.156-288T>A
c.649T>A (p.Phe217Ile)
c.603T>A (n.603T>A)
16g.67940363C>ACA496383992LCATc.864G>T (p.Val288=)
c.156-289G>T
c.648G>T (p.Val216=)
c.602G>T (n.602G>T)
 dbSNP gnomAD v4
16g.67940363C=CA2229563326LCATc.864G= (p.Val288=)
c.156-289G=
c.648G= (p.Val216=)
c.602G= (n.602G=)
16g.67940363C>GCA496383994LCATc.864G>C (p.Val288=)
c.156-289G>C
c.648G>C (p.Val216=)
c.602G>C (n.602G>C)
16g.67940363C>TCA496383993LCATc.864G>A (p.Val288=)
c.156-289G>A
c.648G>A (p.Val216=)
c.602G>A (n.602G>A)
 gnomAD v4
16g.67940364A>CCA396376189LCATc.863T>G (p.Val288Gly)
c.156-290T>G
c.647T>G (p.Val216Gly)
c.601T>G (n.601T>G)
16g.67940364A>GCA396376190LCATc.863T>C (p.Val288Ala)
c.156-290T>C
c.647T>C (p.Val216Ala)
c.601T>C (n.601T>C)
 ClinVar gnomAD v4
16g.67940364A>TCA396376191LCATc.863T>A (p.Val288Glu)
c.156-290T>A
c.647T>A (p.Val216Glu)
c.601T>A (n.601T>A)
16g.67940365delCA2695223582LCATc.862del (p.Val288CysfsTer?)
c.156-291del
c.646del (p.Val216CysfsTer?)
c.600del (n.600del)
16g.67940365C>ACA396376192LCATc.862G>T (p.Val288Leu)
c.156-291G>T
c.646G>T (p.Val216Leu)
c.600G>T (n.600G>T)
16g.67940365C=CA2229563327LCATc.862G= (p.Val288=)
c.156-291G=
c.646G= (p.Val216=)
c.600G= (n.600G=)
16g.67940365C>GCA396376193LCATc.862G>C (p.Val288Leu)
c.156-291G>C
c.646G>C (p.Val216Leu)
c.600G>C (n.600G>C)
16g.67940365C>TCA396376194LCATc.862G>A (p.Val288Met)
c.156-291G>A
c.646G>A (p.Val216Met)
c.600G>A (n.600G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940366G>ACA8120942LCATc.861C>T (p.His287=)
c.156-292C>T
c.645C>T (p.His215=)
c.599C>T (n.599C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940366G>CCA396376196LCATc.861C>G (p.His287Gln)
c.156-292C>G
c.645C>G (p.His215Gln)
c.599C>G (n.599C>G)
 gnomAD v4
16g.67940366G=CA2229563328LCATc.861C= (p.His287=)
c.156-292C=
c.645C= (p.His215=)
c.599C= (n.599C=)
16g.67940366G>TCA396376195LCATc.861C>A (p.His287Gln)
c.156-292C>A
c.645C>A (p.His215Gln)
c.599C>A (n.599C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940367T>ACA396376197LCATc.860A>T (p.His287Leu)
c.156-293A>T
c.644A>T (p.His215Leu)
c.598A>T (n.598A>T)
16g.67940367T>CCA8120943LCATc.860A>G (p.His287Arg)
c.156-293A>G
c.644A>G (p.His215Arg)
c.598A>G (n.598A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940367T>GCA396376198LCATc.860A>C (p.His287Pro)
c.156-293A>C
c.644A>C (p.His215Pro)
c.598A>C (n.598A>C)
16g.67940367T=CA2229563329LCATc.860A= (p.His287=)
c.156-293A=
c.644A= (p.His215=)
c.598A= (n.598A=)
16g.67940368G>ACA396376199LCATc.859C>T (p.His287Tyr)
c.156-294C>T
c.643C>T (p.His215Tyr)
c.597C>T (n.597C>T)
 gnomAD v4
16g.67940368G>CCA396376201LCATc.859C>G (p.His287Asp)
c.156-294C>G
c.643C>G (p.His215Asp)
c.597C>G (n.597C>G)
16g.67940368G>TCA396376200LCATc.859C>A (p.His287Asn)
c.156-294C>A
c.643C>A (p.His215Asn)
c.597C>A (n.597C>A)
16g.67940369G>ACA496384001LCATc.858C>T (p.Asp286=)
c.156-295C>T
c.642C>T (p.Asp214=)
c.596C>T (n.596C>T)
16g.67940369G>CCA396376202LCATc.858C>G (p.Asp286Glu)
c.156-295C>G
c.642C>G (p.Asp214Glu)
c.596C>G (n.596C>G)
16g.67940369G>TCA396376203LCATc.858C>A (p.Asp286Glu)
c.156-295C>A
c.642C>A (p.Asp214Glu)
c.596C>A (n.596C>A)
16g.67940370T>ACA396376204LCATc.857A>T (p.Asp286Val)
c.156-296A>T
c.641A>T (p.Asp214Val)
c.595A>T (n.595A>T)
16g.67940370T>CCA396376205LCATc.857A>G (p.Asp286Gly)
c.156-296A>G
c.641A>G (p.Asp214Gly)
c.595A>G (n.595A>G)
16g.67940370T>GCA396376206LCATc.857A>C (p.Asp286Ala)
c.156-296A>C
c.641A>C (p.Asp214Ala)
c.595A>C (n.595A>C)
16g.67940370_67940371delinsTCCA2229563330LCATc.856_857delinsGA (p.Asp286=)
c.156-297_156-296delinsGA
c.640_641delinsGA (p.Asp214=)
c.594_595delinsGA (n.594_595delinsGA)
16g.67940371C>ACA396376209LCATc.856G>T (p.Asp286Tyr)
c.156-297G>T
c.640G>T (p.Asp214Tyr)
c.594G>T (n.594G>T)
16g.67940371C>GCA396376208LCATc.856G>C (p.Asp286His)
c.156-297G>C
c.640G>C (p.Asp214His)
c.594G>C (n.594G>C)
16g.67940371C>TCA396376207LCATc.856G>A (p.Asp286Asn)
c.156-297G>A
c.640G>A (p.Asp214Asn)
c.594G>A (n.594G>A)
 gnomAD v4
16g.67940372delCA8120944LCATc.856del (p.Asp286ThrfsTer?)
c.156-297del
c.640del (p.Asp214ThrfsTer?)
c.594del (n.594del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940372C>ACA396376210LCATc.855G>T (p.Glu285Asp)
c.156-298G>T
c.639G>T (p.Glu213Asp)
c.593G>T (n.593G>T)
16g.67940372C>GCA396376211LCATc.855G>C (p.Glu285Asp)
c.156-298G>C
c.639G>C (p.Glu213Asp)
c.593G>C (n.593G>C)
16g.67940372C>TCA496384005LCATc.855G>A (p.Glu285=)
c.156-298G>A
c.639G>A (p.Glu213=)
c.593G>A (n.593G>A)
16g.67940373T>ACA396376212LCATc.854A>T (p.Glu285Val)
c.156-299A>T
c.638A>T (p.Glu213Val)
c.592A>T (n.592A>T)
16g.67940373T>CCA396376213LCATc.854A>G (p.Glu285Gly)
c.156-299A>G
c.638A>G (p.Glu213Gly)
c.592A>G (n.592A>G)
16g.67940373T>GCA396376214LCATc.854A>C (p.Glu285Ala)
c.156-299A>C
c.638A>C (p.Glu213Ala)
c.592A>C (n.592A>C)
16g.67940374C>ACA396376217LCATc.853G>T (p.Glu285Ter)
c.156-300G>T
c.637G>T (p.Glu213Ter)
c.591G>T (n.591G>T)
16g.67940374C=CA2229563331LCATc.853G= (p.Glu285=)
c.156-300G=
c.637G= (p.Glu213=)
c.591G= (n.591G=)
16g.67940374C>GCA396376215LCATc.853G>C (p.Glu285Gln)
c.156-300G>C
c.637G>C (p.Glu213Gln)
c.591G>C (n.591G>C)
16g.67940374C>TCA396376216LCATc.853G>A (p.Glu285Lys)
c.156-300G>A
c.637G>A (p.Glu213Lys)
c.591G>A (n.591G>A)
 dbSNP
16g.67940375A=CA2229563332LCATc.852T= (p.Pro284=)
c.156-301T=
c.636T= (p.Pro212=)
c.590T= (n.590T=)
16g.67940375A>CCA496384008LCATc.852T>G (p.Pro284=)
c.156-301T>G
c.636T>G (p.Pro212=)
c.590T>G (n.590T>G)
16g.67940375A>GCA8120945LCATc.852T>C (p.Pro284=)
c.156-301T>C
c.636T>C (p.Pro212=)
c.590T>C (n.590T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940375A>TCA496384009LCATc.852T>A (p.Pro284=)
c.156-301T>A
c.636T>A (p.Pro212=)
c.590T>A (n.590T>A)
16g.67940376G>ACA396376218LCATc.851C>T (p.Pro284Leu)
c.156-302C>T
c.635C>T (p.Pro212Leu)
c.589C>T (n.589C>T)
16g.67940376G>CCA396376219LCATc.851C>G (p.Pro284Arg)
c.156-302C>G
c.635C>G (p.Pro212Arg)
c.589C>G (n.589C>G)
16g.67940376G>TCA396376220LCATc.851C>A (p.Pro284His)
c.156-302C>A
c.635C>A (p.Pro212His)
c.589C>A (n.589C>A)
16g.67940377G>ACA396376221LCATc.850C>T (p.Pro284Ser)
c.156-303C>T
c.634C>T (p.Pro212Ser)
c.588C>T (n.588C>T)
16g.67940377G>CCA396376222LCATc.850C>G (p.Pro284Ala)
c.156-303C>G
c.634C>G (p.Pro212Ala)
c.588C>G (n.588C>G)
16g.67940377G>TCA396376223LCATc.850C>A (p.Pro284Thr)
c.156-303C>A
c.634C>A (p.Pro212Thr)
c.588C>A (n.588C>A)
16g.67940378C>ACA396376224LCATc.849G>T (p.Trp283Cys)
c.156-304G>T
c.633G>T (p.Trp211Cys)
c.587G>T (n.587G>T)
16g.67940378C>GCA396376225LCATc.849G>C (p.Trp283Cys)
c.156-304G>C
c.633G>C (p.Trp211Cys)
c.587G>C (n.587G>C)
16g.67940378C>TCA396376226LCATc.849G>A (p.Trp283Ter)
c.156-304G>A
c.633G>A (p.Trp211Ter)
c.587G>A (n.587G>A)
 ClinVar
16g.67940379C>ACA396376227LCATc.848G>T (p.Trp283Leu)
c.156-305G>T
c.632G>T (p.Trp211Leu)
c.586G>T (n.586G>T)
 gnomAD v4
16g.67940379C>GCA396376228LCATc.848G>C (p.Trp283Ser)
c.156-305G>C
c.632G>C (p.Trp211Ser)
c.586G>C (n.586G>C)
16g.67940379C>TCA396376229LCATc.848G>A (p.Trp283Ter)
c.156-305G>A
c.632G>A (p.Trp211Ter)
c.586G>A (n.586G>A)
16g.67940380delCA2576033452LCATc.847del (p.Trp283GlyfsTer?)
c.156-306del
c.631del (p.Trp211GlyfsTer?)
c.585del (n.585del)
16g.67940380A>CCA396376232LCATc.847T>G (p.Trp283Gly)
c.156-306T>G
c.631T>G (p.Trp211Gly)
c.585T>G (n.585T>G)
16g.67940380A>GCA396376230LCATc.847T>C (p.Trp283Arg)
c.156-306T>C
c.631T>C (p.Trp211Arg)
c.585T>C (n.585T>C)
16g.67940380A>TCA396376231LCATc.847T>A (p.Trp283Arg)
c.156-306T>A
c.631T>A (p.Trp211Arg)
c.585T>A (n.585T>A)
16g.67940381C>ACA496384012LCATc.846G>T (p.Ala282=)
c.156-307G>T
c.630G>T (p.Ala210=)
c.584G>T (n.584G>T)
16g.67940381C=CA2229563333LCATc.846G= (p.Ala282=)
c.156-307G=
c.630G= (p.Ala210=)
c.584G= (n.584G=)
16g.67940381C>GCA496384013LCATc.846G>C (p.Ala282=)
c.156-307G>C
c.630G>C (p.Ala210=)
c.584G>C (n.584G>C)
16g.67940381C>TCA8120946LCATc.846G>A (p.Ala282=)
c.156-307G>A
c.630G>A (p.Ala210=)
c.584G>A (n.584G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940382G>ACA396376233LCATc.845C>T (p.Ala282Val)
c.156-308C>T
c.629C>T (p.Ala210Val)
c.583C>T (n.583C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.67940382G>CCA396376234LCATc.845C>G (p.Ala282Gly)
c.156-308C>G
c.629C>G (p.Ala210Gly)
c.583C>G (n.583C>G)
16g.67940382G=CA2229563334LCATc.845C= (p.Ala282=)
c.156-308C=
c.629C= (p.Ala210=)
c.583C= (n.583C=)
16g.67940382G>TCA396376235LCATc.845C>A (p.Ala282Glu)
c.156-308C>A
c.629C>A (p.Ala210Glu)
c.583C>A (n.583C>A)
16g.67940383C>ACA396376236LCATc.844G>T (p.Ala282Ser)
c.156-309G>T
c.628G>T (p.Ala210Ser)
c.582G>T (n.582G>T)
16g.67940383C>GCA396376237LCATc.844G>C (p.Ala282Pro)
c.156-309G>C
c.628G>C (p.Ala210Pro)
c.582G>C (n.582G>C)
16g.67940383C>TCA396376238LCATc.844G>A (p.Ala282Thr)
c.156-309G>A
c.628G>A (p.Ala210Thr)
c.582G>A (n.582G>A)
16g.67940384C>ACA396376239LCATc.843G>T (p.Met281Ile)
c.156-310G>T
c.627G>T (p.Met209Ile)
c.581G>T (n.581G>T)
16g.67940384C>GCA396376240LCATc.843G>C (p.Met281Ile)
c.156-310G>C
c.627G>C (p.Met209Ile)
c.581G>C (n.581G>C)
16g.67940384C>TCA396376241LCATc.843G>A (p.Met281Ile)
c.156-310G>A
c.627G>A (p.Met209Ile)
c.581G>A (n.581G>A)
 gnomAD v4
16g.67940385A>CCA396376242LCATc.842T>G (p.Met281Arg)
c.156-311T>G
c.626T>G (p.Met209Arg)
c.580T>G (n.580T>G)
16g.67940385A>GCA396376243LCATc.842T>C (p.Met281Thr)
c.156-311T>C
c.626T>C (p.Met209Thr)
c.580T>C (n.580T>C)
 gnomAD v4
16g.67940385A>TCA396376244LCATc.842T>A (p.Met281Lys)
c.156-311T>A
c.626T>A (p.Met209Lys)
c.580T>A (n.580T>A)
16g.67940386T>ACA396376246LCATc.841A>T (p.Met281Leu)
c.156-312A>T
c.625A>T (p.Met209Leu)
c.579A>T (n.579A>T)
16g.67940386T>CCA8120947LCATc.841A>G (p.Met281Val)
c.156-312A>G
c.625A>G (p.Met209Val)
c.579A>G (n.579A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940386T>GCA396376245LCATc.841A>C (p.Met281Leu)
c.156-312A>C
c.625A>C (p.Met209Leu)
c.579A>C (n.579A>C)
16g.67940386T=CA2229563335LCATc.841A= (p.Met281=)
c.156-312A=
c.625A= (p.Met209=)
c.579A= (n.579A=)
16g.67940387G>ACA283160990LCATc.840C>T (p.Arg280=)
c.156-313C>T
c.624C>T (p.Arg208=)
c.578C>T (n.578C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940387G>CCA496384017LCATc.840C>G (p.Arg280=)
c.156-313C>G
c.624C>G (p.Arg208=)
c.578C>G (n.578C>G)
16g.67940387G=CA2229563336LCATc.840C= (p.Arg280=)
c.156-313C=
c.624C= (p.Arg208=)
c.578C= (n.578C=)
16g.67940387G>TCA496384018LCATc.840C>A (p.Arg280=)
c.156-313C>A
c.624C>A (p.Arg208=)
c.578C>A (n.578C>A)
16g.67940388C>ACA396376247LCATc.839G>T (p.Arg280Leu)
c.156-314G>T
c.623G>T (p.Arg208Leu)
c.577G>T (n.577G>T)
16g.67940388C=CA2229563337LCATc.839G= (p.Arg280=)
c.156-314G=
c.623G= (p.Arg208=)
c.577G= (n.577G=)
16g.67940388C>GCA396376248LCATc.839G>C (p.Arg280Pro)
c.156-314G>C
c.623G>C (p.Arg208Pro)
c.577G>C (n.577G>C)
 gnomAD v4
16g.67940388C>TCA8120948LCATc.839G>A (p.Arg280His)
c.156-314G>A
c.623G>A (p.Arg208His)
c.577G>A (n.577G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940389G>ACA8120949LCATc.838C>T (p.Arg280Cys)
c.156-315C>T
c.622C>T (p.Arg208Cys)
c.576C>T (n.576C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940389G>CCA396376249LCATc.838C>G (p.Arg280Gly)
c.156-315C>G
c.622C>G (p.Arg208Gly)
c.576C>G (n.576C>G)
16g.67940389G=CA2229563338LCATc.838C= (p.Arg280=)
c.156-315C=
c.622C= (p.Arg208=)
c.576C= (n.576C=)
16g.67940389G>TCA396376250LCATc.838C>A (p.Arg280Ser)
c.156-315C>A
c.622C>A (p.Arg208Ser)
c.576C>A (n.576C>A)
16g.67940392_67940393delCA2580612821LCATc.837_838del (p.Arg280HisfsTer5)
c.156-316_156-315del
c.621_622del (p.Arg208HisfsTer5)
c.575_576del (n.575_576del)
 ClinVar dbSNP
16g.67940390A>CCA496384019LCATc.837T>G (p.Ser279=)
c.156-316T>G
c.621T>G (p.Ser207=)
c.575T>G (n.575T>G)
16g.67940390A>GCA496384020LCATc.837T>C (p.Ser279=)
c.156-316T>C
c.621T>C (p.Ser207=)
c.575T>C (n.575T>C)
16g.67940390A>TCA496384022LCATc.837T>A (p.Ser279=)
c.156-316T>A
c.621T>A (p.Ser207=)
c.575T>A (n.575T>A)
16g.67940391G>ACA396376251LCATc.836C>T (p.Ser279Phe)
c.156-317C>T
c.620C>T (p.Ser207Phe)
c.574C>T (n.574C>T)
16g.67940391G>CCA396376252LCATc.836C>G (p.Ser279Cys)
c.156-317C>G
c.620C>G (p.Ser207Cys)
c.574C>G (n.574C>G)
16g.67940391G>TCA396376253LCATc.836C>A (p.Ser279Tyr)
c.156-317C>A
c.620C>A (p.Ser207Tyr)
c.574C>A (n.574C>A)
16g.67940392A>CCA396376254LCATc.835T>G (p.Ser279Ala)
c.156-318T>G
c.619T>G (p.Ser207Ala)
c.573T>G (n.573T>G)
16g.67940392A>GCA396376255LCATc.835T>C (p.Ser279Pro)
c.156-318T>C
c.619T>C (p.Ser207Pro)
c.573T>C (n.573T>C)
16g.67940392A>TCA396376256LCATc.835T>A (p.Ser279Thr)
c.156-318T>A
c.619T>A (p.Ser207Thr)
c.573T>A (n.573T>A)
16g.67940393G>ACA496384025LCATc.834C>T (p.Pro278=)
c.156-319C>T
c.618C>T (p.Pro206=)
c.572C>T (n.572C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.67940393G>CCA496384023LCATc.834C>G (p.Pro278=)
c.156-319C>G
c.618C>G (p.Pro206=)
c.572C>G (n.572C>G)
 gnomAD v4
16g.67940393G=CA2229563339LCATc.834C= (p.Pro278=)
c.156-319C=
c.618C= (p.Pro206=)
c.572C= (n.572C=)
16g.67940393G>TCA496384024LCATc.834C>A (p.Pro278=)
c.156-319C>A
c.618C>A (p.Pro206=)
c.572C>A (n.572C>A)
16g.67940394G>ACA396376259LCATc.833C>T (p.Pro278Leu)
c.156-320C>T
c.617C>T (p.Pro206Leu)
c.571C>T (n.571C>T)
16g.67940394G>CCA396376258LCATc.833C>G (p.Pro278Arg)
c.156-320C>G
c.617C>G (p.Pro206Arg)
c.571C>G (n.571C>G)
16g.67940394G>TCA396376257LCATc.833C>A (p.Pro278His)
c.156-320C>A
c.617C>A (p.Pro206His)
c.571C>A (n.571C>A)
16g.67940395G>ACA396376260LCATc.832C>T (p.Pro278Ser)
c.156-321C>T
c.616C>T (p.Pro206Ser)
c.570C>T (n.570C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
16g.67940395G>CCA396376261LCATc.832C>G (p.Pro278Ala)
c.156-321C>G
c.616C>G (p.Pro206Ala)
c.570C>G (n.570C>G)
16g.67940395G=CA2229563340LCATc.832C= (p.Pro278=)
c.156-321C=
c.616C= (p.Pro206=)
c.570C= (n.570C=)
16g.67940395G>TCA396376262LCATc.832C>A (p.Pro278Thr)
c.156-321C>A
c.616C>A (p.Pro206Thr)
c.570C>A (n.570C>A)
16g.67940396A>CCA396376263LCATc.831T>G (p.Phe277Leu)
c.156-322T>G
c.615T>G (p.Phe205Leu)
c.569T>G (n.569T>G)
16g.67940396A>GCA496384027LCATc.831T>C (p.Phe277=)
c.156-322T>C
c.615T>C (p.Phe205=)
c.569T>C (n.569T>C)
 gnomAD v4
16g.67940396A>TCA396376264LCATc.831T>A (p.Phe277Leu)
c.156-322T>A
c.615T>A (p.Phe205Leu)
c.569T>A (n.569T>A)
16g.67940397A>CCA396376267LCATc.830T>G (p.Phe277Cys)
c.156-323T>G
c.614T>G (p.Phe205Cys)
c.568T>G (n.568T>G)
16g.67940397A>GCA396376266LCATc.830T>C (p.Phe277Ser)
c.156-323T>C
c.614T>C (p.Phe205Ser)
c.568T>C (n.568T>C)
16g.67940397A>TCA396376265LCATc.830T>A (p.Phe277Tyr)
c.156-323T>A
c.614T>A (p.Phe205Tyr)
c.568T>A (n.568T>A)
16g.67940398A>CCA396376268LCATc.829T>G (p.Phe277Val)
c.156-324T>G
c.613T>G (p.Phe205Val)
c.567T>G (n.567T>G)
16g.67940398A>GCA396376269LCATc.829T>C (p.Phe277Leu)
c.156-324T>C
c.613T>C (p.Phe205Leu)
c.567T>C (n.567T>C)
16g.67940398A>TCA396376270LCATc.829T>A (p.Phe277Ile)
c.156-324T>A
c.613T>A (p.Phe205Ile)
c.567T>A (n.567T>A)
16g.67940399_67940400dupCA2554837458LCATc.828_829dup (p.Phe277CysfsTer?)
c.156-325_156-324dup
c.612_613dup (p.Phe205CysfsTer?)
c.566_567dup (n.566_567dup)
16g.67940399C>ACA396376271LCATc.828G>T (p.Met276Ile)
c.156-325G>T
c.612G>T (p.Met204Ile)
c.566G>T (n.566G>T)
16g.67940399C=CA2229563341LCATc.828G= (p.Met276=)
c.156-325G=
c.612G= (p.Met204=)
c.566G= (n.566G=)
16g.67940399C>GCA396376272LCATc.828G>C (p.Met276Ile)
c.156-325G>C
c.612G>C (p.Met204Ile)
c.566G>C (n.566G>C)
16g.67940399C>TCA8120950LCATc.828G>A (p.Met276Ile)
c.156-325G>A
c.612G>A (p.Met204Ile)
c.566G>A (n.566G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940400A=CA2229563342LCATc.827T= (p.Met276=)
c.156-326T=
c.611T= (p.Met204=)
c.565T= (n.565T=)
16g.67940400A>CCA396376274LCATc.827T>G (p.Met276Arg)
c.156-326T>G
c.611T>G (p.Met204Arg)
c.565T>G (n.565T>G)
16g.67940400A>GCA396376273LCATc.827T>C (p.Met276Thr)
c.156-326T>C
c.611T>C (p.Met204Thr)
c.565T>C (n.565T>C)
 dbSNP gnomAD v2 gnomAD v4
16g.67940400A>TCA116421LCATc.827T>A (p.Met276Lys)
c.156-326T>A
c.611T>A (p.Met204Lys)
c.565T>A (n.565T>A)
 ClinVar dbSNP gnomAD v4
16g.67940401T>ACA396376275LCATc.826A>T (p.Met276Leu)
c.156-327A>T
c.610A>T (p.Met204Leu)
c.564A>T (n.564A>T)
16g.67940401T>CCA396376276LCATc.826A>G (p.Met276Val)
c.156-327A>G
c.610A>G (p.Met204Val)
c.564A>G (n.564A>G)
16g.67940401T>GCA396376277LCATc.826A>C (p.Met276Leu)
c.156-327A>C
c.610A>C (p.Met204Leu)
c.564A>C (n.564A>C)
16g.67940402C>ACA396376278LCATc.825G>T (p.Trp275Cys)
c.156-328G>T
c.609G>T (p.Trp203Cys)
c.563G>T (n.563G>T)
16g.67940402C>GCA396376279LCATc.825G>C (p.Trp275Cys)
c.156-328G>C
c.609G>C (p.Trp203Cys)
c.563G>C (n.563G>C)
16g.67940402C>TCA396376280LCATc.825G>A (p.Trp275Ter)
c.156-328G>A
c.609G>A (p.Trp203Ter)
c.563G>A (n.563G>A)
16g.67940403C>ACA396376281LCATc.824G>T (p.Trp275Leu)
c.156-329G>T
c.608G>T (p.Trp203Leu)
c.562G>T (n.562G>T)
16g.67940403C>GCA396376282LCATc.824G>C (p.Trp275Ser)
c.156-329G>C
c.608G>C (p.Trp203Ser)
c.562G>C (n.562G>C)
 COSMIC
16g.67940403C>TCA396376283LCATc.824G>A (p.Trp275Ter)
c.156-329G>A
c.608G>A (p.Trp203Ter)
c.562G>A (n.562G>A)
 gnomAD v4
16g.67940404A>CCA396376284LCATc.823T>G (p.Trp275Gly)
c.156-330T>G
c.607T>G (p.Trp203Gly)
c.561T>G (n.561T>G)
16g.67940404A>GCA396376285LCATc.823T>C (p.Trp275Arg)
c.156-330T>C
c.607T>C (p.Trp203Arg)
c.561T>C (n.561T>C)
16g.67940404A>TCA396376286LCATc.823T>A (p.Trp275Arg)
c.156-330T>A
c.607T>A (p.Trp203Arg)
c.561T>A (n.561T>A)
16g.67940405G>ACA496384028LCATc.822C>T (p.Pro274=)
c.156-331C>T
c.606C>T (p.Pro202=)
c.560C>T (n.560C>T)
16g.67940405G>CCA496384029LCATc.822C>G (p.Pro274=)
c.156-331C>G
c.606C>G (p.Pro202=)
c.560C>G (n.560C>G)
16g.67940405G>TCA496384030LCATc.822C>A (p.Pro274=)
c.156-331C>A
c.606C>A (p.Pro202=)
c.560C>A (n.560C>A)
16g.67940406G>ACA396376289LCATc.821C>T (p.Pro274Leu)
c.156-332C>T
c.605C>T (p.Pro202Leu)
c.559C>T (n.559C>T)
16g.67940406G>CCA396376287LCATc.821C>G (p.Pro274Arg)
c.156-332C>G
c.605C>G (p.Pro202Arg)
c.559C>G (n.559C>G)
 dbSNP gnomAD v4
16g.67940406G=CA2229563343LCATc.821C= (p.Pro274=)
c.156-332C=
c.605C= (p.Pro202=)
c.559C= (n.559C=)
16g.67940406G>TCA396376288LCATc.821C>A (p.Pro274His)
c.156-332C>A
c.605C>A (p.Pro202His)
c.559C>A (n.559C>A)
16g.67940407G>ACA396376290LCATc.820C>T (p.Pro274Ser)
c.156-333C>T
c.604C>T (p.Pro202Ser)
c.558C>T (n.558C>T)
16g.67940407G>CCA396376291LCATc.820C>G (p.Pro274Ala)
c.156-333C>G
c.604C>G (p.Pro202Ala)
c.558C>G (n.558C>G)
16g.67940407G>TCA396376292LCATc.820C>A (p.Pro274Thr)
c.156-333C>A
c.604C>A (p.Pro202Thr)
c.558C>A (n.558C>A)
16g.67940408G>ACA496384031LCATc.819C>T (p.Ser273=)
c.156-334C>T
c.603C>T (p.Ser201=)
c.557C>T (n.557C>T)
 ClinVar gnomAD v4
16g.67940408G>CCA496384032LCATc.819C>G (p.Ser273=)
c.156-334C>G
c.603C>G (p.Ser201=)
c.557C>G (n.557C>G)
16g.67940408G>TCA496384033LCATc.819C>A (p.Ser273=)
c.156-334C>A
c.603C>A (p.Ser201=)
c.557C>A (n.557C>A)
 gnomAD v4
16g.67940409G>ACA396376293LCATc.818C>T (p.Ser273Phe)
c.156-335C>T
c.602C>T (p.Ser201Phe)
c.556C>T (n.556C>T)
16g.67940409G>CCA396376294LCATc.818C>G (p.Ser273Cys)
c.156-335C>G
c.602C>G (p.Ser201Cys)
c.556C>G (n.556C>G)
16g.67940409G>TCA396376295LCATc.818C>A (p.Ser273Tyr)
c.156-335C>A
c.602C>A (p.Ser201Tyr)
c.556C>A (n.556C>A)
16g.67940410A>CCA396376296LCATc.817T>G (p.Ser273Ala)
c.156-336T>G
c.601T>G (p.Ser201Ala)
c.555T>G (n.555T>G)
16g.67940410A>GCA396376297LCATc.817T>C (p.Ser273Pro)
c.156-336T>C
c.601T>C (p.Ser201Pro)
c.555T>C (n.555T>C)
16g.67940410A>TCA396376298LCATc.817T>A (p.Ser273Thr)
c.156-336T>A
c.601T>A (p.Ser201Thr)
c.555T>A (n.555T>A)
16g.67940411G>ACA496384034LCATc.816C>T (p.Thr272=)
c.156-337C>T
c.600C>T (p.Thr200=)
c.554C>T (n.554C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.67940411G>CCA496384036LCATc.816C>G (p.Thr272=)
c.156-337C>G
c.600C>G (p.Thr200=)
c.554C>G (n.554C>G)
16g.67940411G=CA2229563344LCATc.816C= (p.Thr272=)
c.156-337C=
c.600C= (p.Thr200=)
c.554C= (n.554C=)
16g.67940411G>TCA496384035LCATc.816C>A (p.Thr272=)
c.156-337C>A
c.600C>A (p.Thr200=)
c.554C>A (n.554C>A)
 COSMIC
16g.67940417_67940419delCA2633851016LCATc.814_816del (p.Thr272del)
c.156-339_156-337del
c.598_600del (p.Thr200del)
c.552_554del (n.552_554del)
 gnomAD v4
16g.67940412G>ACA396376299LCATc.815C>T (p.Thr272Ile)
c.156-338C>T
c.599C>T (p.Thr200Ile)
c.553C>T (n.553C>T)
 dbSNP
16g.67940412G>CCA396376300LCATc.815C>G (p.Thr272Ser)
c.156-338C>G
c.599C>G (p.Thr200Ser)
c.553C>G (n.553C>G)
16g.67940412G=CA2229563345LCATc.815C= (p.Thr272=)
c.156-338C=
c.599C= (p.Thr200=)
c.553C= (n.553C=)
16g.67940412G>TCA396376301LCATc.815C>A (p.Thr272Asn)
c.156-338C>A
c.599C>A (p.Thr200Asn)
c.553C>A (n.553C>A)
16g.67940413T>ACA396376304LCATc.814A>T (p.Thr272Ser)
c.156-339A>T
c.598A>T (p.Thr200Ser)
c.552A>T (n.552A>T)
16g.67940413T>CCA396376303LCATc.814A>G (p.Thr272Ala)
c.156-339A>G
c.598A>G (p.Thr200Ala)
c.552A>G (n.552A>G)
 gnomAD v4
16g.67940413T>GCA396376302LCATc.814A>C (p.Thr272Pro)
c.156-339A>C
c.598A>C (p.Thr200Pro)
c.552A>C (n.552A>C)
16g.67940414G>ACA496384037LCATc.813C>T (p.Thr271=)
c.156-340C>T
c.597C>T (p.Thr199=)
c.551C>T (n.551C>T)
16g.67940414G>CCA496384038LCATc.813C>G (p.Thr271=)
c.156-340C>G
c.597C>G (p.Thr199=)
c.551C>G (n.551C>G)
16g.67940414G>TCA496384039LCATc.813C>A (p.Thr271=)
c.156-340C>A
c.597C>A (p.Thr199=)
c.551C>A (n.551C>A)
16g.67940415G>ACA396376305LCATc.812C>T (p.Thr271Ile)
c.156-341C>T
c.596C>T (p.Thr199Ile)
c.550C>T (n.550C>T)
16g.67940415G>CCA396376306LCATc.812C>G (p.Thr271Ser)
c.156-341C>G
c.596C>G (p.Thr199Ser)
c.550C>G (n.550C>G)
16g.67940415G>TCA396376307LCATc.812C>A (p.Thr271Asn)
c.156-341C>A
c.596C>A (p.Thr199Asn)
c.550C>A (n.550C>A)
16g.67940416T>ACA396376308LCATc.811A>T (p.Thr271Ser)
c.156-342A>T
c.595A>T (p.Thr199Ser)
c.549A>T (n.549A>T)
16g.67940416T>CCA396376309LCATc.811A>G (p.Thr271Ala)
c.156-342A>G
c.595A>G (p.Thr199Ala)
c.549A>G (n.549A>G)
16g.67940416T>GCA396376310LCATc.811A>C (p.Thr271Pro)
c.156-342A>C
c.595A>C (p.Thr199Pro)
c.549A>C (n.549A>C)
16g.67940417G>ACA496384040LCATc.810C>T (p.Thr270=)
c.156-343C>T
c.594C>T (p.Thr198=)
c.548C>T (n.548C>T)
 dbSNP gnomAD v4
16g.67940417G>CCA496384041LCATc.810C>G (p.Thr270=)
c.156-343C>G
c.594C>G (p.Thr198=)
c.548C>G (n.548C>G)
16g.67940417G>TCA496384042LCATc.810C>A (p.Thr270=)
c.156-343C>A
c.594C>A (p.Thr198=)
c.548C>A (n.548C>A)
16g.67940418G>ACA8120951LCATc.809C>T (p.Thr270Ile)
c.156-344C>T
c.593C>T (p.Thr198Ile)
c.547C>T (n.547C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940418G>CCA396376311LCATc.809C>G (p.Thr270Ser)
c.156-344C>G
c.593C>G (p.Thr198Ser)
c.547C>G (n.547C>G)
16g.67940418G=CA2229563346LCATc.809C= (p.Thr270=)
c.156-344C=
c.593C= (p.Thr198=)
c.547C= (n.547C=)
16g.67940418G>TCA396376312LCATc.809C>A (p.Thr270Asn)
c.156-344C>A
c.593C>A (p.Thr198Asn)
c.547C>A (n.547C>A)
16g.67940419T>ACA396376313LCATc.808A>T (p.Thr270Ser)
c.156-345A>T
c.592A>T (p.Thr198Ser)
c.546A>T (n.546A>T)
16g.67940419T>CCA396376314LCATc.808A>G (p.Thr270Ala)
c.156-345A>G
c.592A>G (p.Thr198Ala)
c.546A>G (n.546A>G)
16g.67940419T>GCA396376315LCATc.808A>C (p.Thr270Pro)
c.156-345A>C
c.592A>C (p.Thr198Pro)
c.546A>C (n.546A>C)
16g.67940420T>ACA496384043LCATc.807A>T (p.Ile269=)
c.156-346A>T
c.591A>T (p.Ile197=)
c.545A>T (n.545A>T)
16g.67940420T>CCA396376316LCATc.807A>G (p.Ile269Met)
c.156-346A>G
c.591A>G (p.Ile197Met)
c.545A>G (n.545A>G)
16g.67940420T>GCA496384044LCATc.807A>C (p.Ile269=)
c.156-346A>C
c.591A>C (p.Ile197=)
c.545A>C (n.545A>C)
16g.67940421A>CCA396376318LCATc.806T>G (p.Ile269Arg)
c.156-347T>G
c.590T>G (p.Ile197Arg)
c.544T>G (n.544T>G)
16g.67940421A>GCA396376319LCATc.806T>C (p.Ile269Thr)
c.156-347T>C
c.590T>C (p.Ile197Thr)
c.544T>C (n.544T>C)
16g.67940421A>TCA396376317LCATc.806T>A (p.Ile269Lys)
c.156-347T>A
c.590T>A (p.Ile197Lys)
c.544T>A (n.544T>A)
16g.67940422T>ACA396376320LCATc.805A>T (p.Ile269Leu)
c.156-348A>T
c.589A>T (p.Ile197Leu)
c.543A>T (n.543A>T)
16g.67940422T>CCA283161018LCATc.805A>G (p.Ile269Val)
c.156-348A>G
c.589A>G (p.Ile197Val)
c.543A>G (n.543A>G)
 dbSNP
16g.67940422T>GCA396376321LCATc.805A>C (p.Ile269Leu)
c.156-348A>C
c.589A>C (p.Ile197Leu)
c.543A>C (n.543A>C)
16g.67940422T=CA2229563347LCATc.805A= (p.Ile269=)
c.156-348A=
c.589A= (p.Ile197=)
c.543A= (n.543A=)
16g.67940423G>ACA496384045LCATc.804C>T (p.Arg268=)
c.156-349C>T
c.588C>T (p.Arg196=)
c.542C>T (n.542C>T)
 gnomAD v4
16g.67940423G>CCA496384046LCATc.804C>G (p.Arg268=)
c.156-349C>G
c.588C>G (p.Arg196=)
c.542C>G (n.542C>G)
16g.67940423G>TCA496384047LCATc.804C>A (p.Arg268=)
c.156-349C>A
c.588C>A (p.Arg196=)
c.542C>A (n.542C>A)
16g.67940424C>ACA396376322LCATc.803G>T (p.Arg268Leu)
c.156-350G>T
c.587G>T (p.Arg196Leu)
c.541G>T (n.541G>T)
16g.67940424C=CA2229563348LCATc.803G= (p.Arg268=)
c.156-350G=
c.587G= (p.Arg196=)
c.541G= (n.541G=)
16g.67940424C>GCA396376323LCATc.803G>C (p.Arg268Pro)
c.156-350G>C
c.587G>C (p.Arg196Pro)
c.541G>C (n.541G>C)
 gnomAD v4
16g.67940424C>TCA8120952LCATc.803G>A (p.Arg268His)
c.156-350G>A
c.587G>A (p.Arg196His)
c.541G>A (n.541G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940425G>ACA8120954LCATc.802C>T (p.Arg268Cys)
c.156-351C>T
c.586C>T (p.Arg196Cys)
c.540C>T (n.540C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940425G>CCA396376324LCATc.802C>G (p.Arg268Gly)
c.156-351C>G
c.586C>G (p.Arg196Gly)
c.540C>G (n.540C>G)
16g.67940425G=CA2229563349LCATc.802C= (p.Arg268=)
c.156-351C=
c.586C= (p.Arg196=)
c.540C= (n.540C=)
16g.67940425G>TCA8120953LCATc.802C>A (p.Arg268Ser)
c.156-351C>A
c.586C>A (p.Arg196Ser)
c.540C>A (n.540C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940426C>ACA396376325LCATc.801G>T (p.Gln267His)
c.156-352G>T
c.585G>T (p.Gln195His)
c.539G>T (n.539G>T)
16g.67940426C=CA2229563350LCATc.801G= (p.Gln267=)
c.156-352G=
c.585G= (p.Gln195=)
c.539G= (n.539G=)
16g.67940426C>GCA396376326LCATc.801G>C (p.Gln267His)
c.156-352G>C
c.585G>C (p.Gln195His)
c.539G>C (n.539G>C)
16g.67940426C>TCA496384048LCATc.801G>A (p.Gln267=)
c.156-352G>A
c.585G>A (p.Gln195=)
c.539G>A (n.539G>A)
 dbSNP gnomAD v4
16g.67940428_67940435delCA2695223583LCATc.794_801del (p.Glu265AlafsTer18)
c.156-359_156-352del
c.578_585del (p.Glu193AlafsTer18)
c.532_539del (n.532_539del)
16g.67940427T>ACA396376327LCATc.800A>T (p.Gln267Leu)
c.156-353A>T
c.584A>T (p.Gln195Leu)
c.538A>T (n.538A>T)
16g.67940427T>CCA396376328LCATc.800A>G (p.Gln267Arg)
c.156-353A>G
c.584A>G (p.Gln195Arg)
c.538A>G (n.538A>G)
16g.67940427T>GCA396376329LCATc.800A>C (p.Gln267Pro)
c.156-353A>C
c.584A>C (p.Gln195Pro)
c.538A>C (n.538A>C)
16g.67940428G>ACA8120955LCATc.799C>T (p.Gln267Ter)
c.156-354C>T
c.583C>T (p.Gln195Ter)
c.537C>T (n.537C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940428G>CCA396376330LCATc.799C>G (p.Gln267Glu)
c.156-354C>G
c.583C>G (p.Gln195Glu)
c.537C>G (n.537C>G)
16g.67940428G=CA2229563351LCATc.799C= (p.Gln267=)
c.156-354C=
c.583C= (p.Gln195=)
c.537C= (n.537C=)
16g.67940428G>TCA396376331LCATc.799C>A (p.Gln267Lys)
c.156-354C>A
c.583C>A (p.Gln195Lys)
c.537C>A (n.537C>A)
16g.67940429C>ACA396376333LCATc.798G>T (p.Glu266Asp)
c.156-355G>T
c.582G>T (p.Glu194Asp)
c.536G>T (n.536G>T)
16g.67940429C>GCA396376332LCATc.798G>C (p.Glu266Asp)
c.156-355G>C
c.582G>C (p.Glu194Asp)
c.536G>C (n.536G>C)
16g.67940429C>TCA496384049LCATc.798G>A (p.Glu266=)
c.156-355G>A
c.582G>A (p.Glu194=)
c.536G>A (n.536G>A)
16g.67940430T>ACA396376334LCATc.797A>T (p.Glu266Val)
c.156-356A>T
c.581A>T (p.Glu194Val)
c.535A>T (n.535A>T)
16g.67940430T>CCA396376335LCATc.797A>G (p.Glu266Gly)
c.156-356A>G
c.581A>G (p.Glu194Gly)
c.535A>G (n.535A>G)
16g.67940430T>GCA396376336LCATc.797A>C (p.Glu266Ala)
c.156-356A>C
c.581A>C (p.Glu194Ala)
c.535A>C (n.535A>C)
16g.67940431C>ACA396376337LCATc.796G>T (p.Glu266Ter)
c.156-357G>T
c.580G>T (p.Glu194Ter)
c.534G>T (n.534G>T)
16g.67940431C>GCA396376338LCATc.796G>C (p.Glu266Gln)
c.156-357G>C
c.580G>C (p.Glu194Gln)
c.534G>C (n.534G>C)
16g.67940431C>TCA396376339LCATc.796G>A (p.Glu266Lys)
c.156-357G>A
c.580G>A (p.Glu194Lys)
c.534G>A (n.534G>A)
 ClinVar
16g.67940432C>ACA396376340LCATc.795G>T (p.Glu265Asp)
c.156-358G>T
c.579G>T (p.Glu193Asp)
c.533G>T (n.533G>T)
 dbSNP gnomAD v2
16g.67940432C=CA2229563352LCATc.795G= (p.Glu265=)
c.156-358G=
c.579G= (p.Glu193=)
c.533G= (n.533G=)
16g.67940432C>GCA396376341LCATc.795G>C (p.Glu265Asp)
c.156-358G>C
c.579G>C (p.Glu193Asp)
c.533G>C (n.533G>C)
 gnomAD v4
16g.67940432C>TCA496384050LCATc.795G>A (p.Glu265=)
c.156-358G>A
c.579G>A (p.Glu193=)
c.533G>A (n.533G>A)
 ClinVar
16g.67940433T>ACA396376342LCATc.794A>T (p.Glu265Val)
c.156-359A>T
c.578A>T (p.Glu193Val)
c.532A>T (n.532A>T)
16g.67940433T>CCA396376343LCATc.794A>G (p.Glu265Gly)
c.156-359A>G
c.578A>G (p.Glu193Gly)
c.532A>G (n.532A>G)
 gnomAD v4
16g.67940433T>GCA396376344LCATc.794A>C (p.Glu265Ala)
c.156-359A>C
c.578A>C (p.Glu193Ala)
c.532A>C (n.532A>C)
16g.67940434C>ACA396376346LCATc.793G>T (p.Glu265Ter)
c.156-360G>T
c.577G>T (p.Glu193Ter)
c.531G>T (n.531G>T)
16g.67940434C>GCA396376347LCATc.793G>C (p.Glu265Gln)
c.156-360G>C
c.577G>C (p.Glu193Gln)
c.531G>C (n.531G>C)
16g.67940434C>TCA396376345LCATc.793G>A (p.Glu265Lys)
c.156-360G>A
c.577G>A (p.Glu193Lys)
c.531G>A (n.531G>A)
16g.67940435T>ACA396376348LCATc.792A>T (p.Lys264Asn)
c.156-361A>T
c.576A>T (p.Lys192Asn)
c.530A>T (n.530A>T)
16g.67940435T>CCA496384051LCATc.792A>G (p.Lys264=)
c.156-361A>G
c.576A>G (p.Lys192=)
c.530A>G (n.530A>G)
16g.67940435T>GCA396376349LCATc.792A>C (p.Lys264Asn)
c.156-361A>C
c.576A>C (p.Lys192Asn)
c.530A>C (n.530A>C)
16g.67940436T>ACA396376350LCATc.791A>T (p.Lys264Ile)
c.156-362A>T
c.575A>T (p.Lys192Ile)
c.529A>T (n.529A>T)
16g.67940436T>CCA396376351LCATc.791A>G (p.Lys264Arg)
c.156-362A>G
c.575A>G (p.Lys192Arg)
c.529A>G (n.529A>G)
16g.67940436T>GCA396376352LCATc.791A>C (p.Lys264Thr)
c.156-362A>C
c.575A>C (p.Lys192Thr)
c.529A>C (n.529A>C)
16g.67940437T>ACA396376353LCATc.790A>T (p.Lys264Ter)
c.156-363A>T
c.574A>T (p.Lys192Ter)
c.528A>T (n.528A>T)
16g.67940437T>CCA283161039LCATc.790A>G (p.Lys264Glu)
c.156-363A>G
c.574A>G (p.Lys192Glu)
c.528A>G (n.528A>G)
 dbSNP
16g.67940437T>GCA396376354LCATc.790A>C (p.Lys264Gln)
c.156-363A>C
c.574A>C (p.Lys192Gln)
c.528A>C (n.528A>C)
16g.67940437T=CA2229563353LCATc.790A= (p.Lys264=)
c.156-363A=
c.574A= (p.Lys192=)
c.528A= (n.528A=)
16g.67940438C>ACA496384052LCATc.789G>T (p.Leu263=)
c.156-364G>T
c.573G>T (p.Leu191=)
c.527G>T (n.527G>T)
16g.67940438C=CA2229563354LCATc.789G= (p.Leu263=)
c.156-364G=
c.573G= (p.Leu191=)
c.527G= (n.527G=)
16g.67940438C>GCA496384053LCATc.789G>C (p.Leu263=)
c.156-364G>C
c.573G>C (p.Leu191=)
c.527G>C (n.527G>C)
16g.67940438C>TCA496384054LCATc.789G>A (p.Leu263=)
c.156-364G>A
c.573G>A (p.Leu191=)
c.527G>A (n.527G>A)
 dbSNP
16g.67940439A=CA2229563355LCATc.788T= (p.Leu263=)
c.156-365T=
c.572T= (p.Leu191=)
c.526T= (n.526T=)
16g.67940439A>CCA396376355LCATc.788T>G (p.Leu263Arg)
c.156-365T>G
c.572T>G (p.Leu191Arg)
c.526T>G (n.526T>G)
16g.67940439A>GCA396376356LCATc.788T>C (p.Leu263Pro)
c.156-365T>C
c.572T>C (p.Leu191Pro)
c.526T>C (n.526T>C)
16g.67940439A>TCA8120956LCATc.788T>A (p.Leu263Gln)
c.156-365T>A
c.572T>A (p.Leu191Gln)
c.526T>A (n.526T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940440G>ACA8120957LCATc.787C>T (p.Leu263=)
c.156-366C>T
c.571C>T (p.Leu191=)
c.525C>T (n.525C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940440G>CCA396376358LCATc.787C>G (p.Leu263Val)
c.156-366C>G
c.571C>G (p.Leu191Val)
c.525C>G (n.525C>G)
16g.67940440G=CA2229563356LCATc.787C= (p.Leu263=)
c.156-366C=
c.571C= (p.Leu191=)
c.525C= (n.525C=)
16g.67940440G>TCA396376357LCATc.787C>A (p.Leu263Met)
c.156-366C>A
c.571C>A (p.Leu191Met)
c.525C>A (n.525C>A)
16g.67940441C>ACA396376359LCATc.786G>T (p.Lys262Asn)
c.156-367G>T
c.570G>T (p.Lys190Asn)
c.524G>T (n.524G>T)
16g.67940441C=CA2229563357LCATc.786G= (p.Lys262=)
c.156-367G=
c.570G= (p.Lys190=)
c.524G= (n.524G=)
16g.67940441C>GCA396376360LCATc.786G>C (p.Lys262Asn)
c.156-367G>C
c.570G>C (p.Lys190Asn)
c.524G>C (n.524G>C)
16g.67940441C>TCA8120958LCATc.786G>A (p.Lys262=)
c.156-367G>A
c.570G>A (p.Lys190=)
c.524G>A (n.524G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940442T>ACA396376361LCATc.785A>T (p.Lys262Met)
c.156-368A>T
c.569A>T (p.Lys190Met)
c.523A>T (n.523A>T)
16g.67940442T>CCA396376362LCATc.785A>G (p.Lys262Arg)
c.156-368A>G
c.569A>G (p.Lys190Arg)
c.523A>G (n.523A>G)
16g.67940442T>GCA396376363LCATc.785A>C (p.Lys262Thr)
c.156-368A>C
c.569A>C (p.Lys190Thr)
c.523A>C (n.523A>C)
16g.67940443T>ACA396376364LCATc.784A>T (p.Lys262Ter)
c.156-369A>T
c.568A>T (p.Lys190Ter)
c.522A>T (n.522A>T)
16g.67940443T>CCA396376366LCATc.784A>G (p.Lys262Glu)
c.156-369A>G
c.568A>G (p.Lys190Glu)
c.522A>G (n.522A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940443T>GCA396376365LCATc.784A>C (p.Lys262Gln)
c.156-369A>C
c.568A>C (p.Lys190Gln)
c.522A>C (n.522A>C)
16g.67940443T=CA2229563358LCATc.784A= (p.Lys262=)
c.156-369A=
c.568A= (p.Lys190=)
c.522A= (n.522A=)
16g.67940444G>ACA496384055LCATc.783C>T (p.Ile261=)
c.156-370C>T
c.567C>T (p.Ile189=)
c.521C>T (n.521C>T)
16g.67940444G>CCA396376367LCATc.783C>G (p.Ile261Met)
c.156-370C>G
c.567C>G (p.Ile189Met)
c.521C>G (n.521C>G)
16g.67940444G>TCA496384056LCATc.783C>A (p.Ile261=)
c.156-370C>A
c.567C>A (p.Ile189=)
c.521C>A (n.521C>A)
16g.67940445A>CCA396376368LCATc.782T>G (p.Ile261Ser)
c.156-371T>G
c.566T>G (p.Ile189Ser)
c.520T>G (n.520T>G)
16g.67940445A>GCA396376369LCATc.782T>C (p.Ile261Thr)
c.156-371T>C
c.566T>C (p.Ile189Thr)
c.520T>C (n.520T>C)
16g.67940445A>TCA396376370LCATc.782T>A (p.Ile261Asn)
c.156-371T>A
c.566T>A (p.Ile189Asn)
c.520T>A (n.520T>A)
16g.67940446T>ACA396376373LCATc.781A>T (p.Ile261Phe)
c.156-372A>T
c.565A>T (p.Ile189Phe)
c.519A>T (n.519A>T)
 ClinVar
16g.67940446T>CCA396376372LCATc.781A>G (p.Ile261Val)
c.156-372A>G
c.565A>G (p.Ile189Val)
c.519A>G (n.519A>G)
16g.67940446T>GCA396376371LCATc.781A>C (p.Ile261Leu)
c.156-372A>C
c.565A>C (p.Ile189Leu)
c.519A>C (n.519A>C)

Number of alleles fetched