Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.189864356A>CCA355753651TP63c.704A>C (p.Glu235Ala)
c.422A>C (p.Glu141Ala)
c.167A>C (p.Glu56Ala)
n.528A>C
c.653A>C (p.Glu218Ala)
c.701A>C (p.Glu234Ala)
c.698A>C (p.Glu233Ala)
c.665A>C (p.Glu222Ala)
3g.189864356A>GCA355753648TP63c.704A>G (p.Glu235Gly)
c.422A>G (p.Glu141Gly)
c.167A>G (p.Glu56Gly)
n.528A>G
c.653A>G (p.Glu218Gly)
c.701A>G (p.Glu234Gly)
c.698A>G (p.Glu233Gly)
c.665A>G (p.Glu222Gly)
3g.189864356A>TCA355753650TP63c.704A>T (p.Glu235Val)
c.422A>T (p.Glu141Val)
c.167A>T (p.Glu56Val)
n.528A>T
c.653A>T (p.Glu218Val)
c.701A>T (p.Glu234Val)
c.698A>T (p.Glu233Val)
c.665A>T (p.Glu222Val)
3g.189864357G>ACA437412946TP63c.705G>A (p.Glu235=)
c.423G>A (p.Glu141=)
c.168G>A (p.Glu56=)
n.529G>A
c.654G>A (p.Glu218=)
c.702G>A (p.Glu234=)
c.699G>A (p.Glu233=)
c.666G>A (p.Glu222=)
3g.189864357G>CCA355753653TP63c.705G>C (p.Glu235Asp)
c.423G>C (p.Glu141Asp)
c.168G>C (p.Glu56Asp)
n.529G>C
c.654G>C (p.Glu218Asp)
c.702G>C (p.Glu234Asp)
c.699G>C (p.Glu233Asp)
c.666G>C (p.Glu222Asp)
3g.189864357G>TCA355753655TP63c.705G>T (p.Glu235Asp)
c.423G>T (p.Glu141Asp)
c.168G>T (p.Glu56Asp)
n.529G>T
c.654G>T (p.Glu218Asp)
c.702G>T (p.Glu234Asp)
c.699G>T (p.Glu233Asp)
c.666G>T (p.Glu222Asp)
3g.189864358C>ACA355753657TP63c.706C>A (p.His236Asn)
c.424C>A (p.His142Asn)
c.169C>A (p.His57Asn)
n.530C>A
c.655C>A (p.His219Asn)
c.703C>A (p.His235Asn)
c.700C>A (p.His234Asn)
c.667C>A (p.His223Asn)
3g.189864358C>GCA355753658TP63c.706C>G (p.His236Asp)
c.424C>G (p.His142Asp)
c.169C>G (p.His57Asp)
n.530C>G
c.655C>G (p.His219Asp)
c.703C>G (p.His235Asp)
c.700C>G (p.His234Asp)
c.667C>G (p.His223Asp)
3g.189864358C>TCA355753660TP63c.706C>T (p.His236Tyr)
c.424C>T (p.His142Tyr)
c.169C>T (p.His57Tyr)
n.530C>T
c.655C>T (p.His219Tyr)
c.703C>T (p.His235Tyr)
c.700C>T (p.His234Tyr)
c.667C>T (p.His223Tyr)
3g.189864359A>CCA355753662TP63c.707A>C (p.His236Pro)
c.425A>C (p.His142Pro)
c.170A>C (p.His57Pro)
n.531A>C
c.656A>C (p.His219Pro)
c.704A>C (p.His235Pro)
c.701A>C (p.His234Pro)
c.668A>C (p.His223Pro)
3g.189864359A>GCA355753663TP63c.707A>G (p.His236Arg)
c.425A>G (p.His142Arg)
c.170A>G (p.His57Arg)
n.531A>G
c.656A>G (p.His219Arg)
c.704A>G (p.His235Arg)
c.701A>G (p.His234Arg)
c.668A>G (p.His223Arg)
 COSMIC
3g.189864359A>TCA355753665TP63c.707A>T (p.His236Leu)
c.425A>T (p.His142Leu)
c.170A>T (p.His57Leu)
n.531A>T
c.656A>T (p.His219Leu)
c.704A>T (p.His235Leu)
c.701A>T (p.His234Leu)
c.668A>T (p.His223Leu)
3g.189864360C>ACA355753666TP63c.708C>A (p.His236Gln)
c.426C>A (p.His142Gln)
c.171C>A (p.His57Gln)
n.532C>A
c.657C>A (p.His219Gln)
c.705C>A (p.His235Gln)
c.702C>A (p.His234Gln)
c.669C>A (p.His223Gln)
3g.189864360C=CA1428525447TP63c.708C= (p.His236=)
c.426C= (p.His142=)
c.171C= (p.His57=)
n.532C=
c.657C= (p.His219=)
c.705C= (p.His235=)
c.702C= (p.His234=)
c.669C= (p.His223=)
3g.189864360C>GCA355753668TP63c.708C>G (p.His236Gln)
c.426C>G (p.His142Gln)
c.171C>G (p.His57Gln)
n.532C>G
c.657C>G (p.His219Gln)
c.705C>G (p.His235Gln)
c.702C>G (p.His234Gln)
c.669C>G (p.His223Gln)
3g.189864360C>TCA437412947TP63c.708C>T (p.His236=)
c.426C>T (p.His142=)
c.171C>T (p.His57=)
n.532C>T
c.657C>T (p.His219=)
c.705C>T (p.His235=)
c.702C>T (p.His234=)
c.669C>T (p.His223=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864361G>ACA2752230TP63c.709G>A (p.Val237Ile)
c.427G>A (p.Val143Ile)
c.172G>A (p.Val58Ile)
n.533G>A
c.658G>A (p.Val220Ile)
c.706G>A (p.Val236Ile)
c.703G>A (p.Val235Ile)
c.670G>A (p.Val224Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
3g.189864361G>CCA355753670TP63c.709G>C (p.Val237Leu)
c.427G>C (p.Val143Leu)
c.172G>C (p.Val58Leu)
n.533G>C
c.658G>C (p.Val220Leu)
c.706G>C (p.Val236Leu)
c.703G>C (p.Val235Leu)
c.670G>C (p.Val224Leu)
3g.189864361G=CA1428525448TP63c.709G= (p.Val237=)
c.427G= (p.Val143=)
c.172G= (p.Val58=)
n.533G=
c.658G= (p.Val220=)
c.706G= (p.Val236=)
c.703G= (p.Val235=)
c.670G= (p.Val224=)
3g.189864361G>TCA355753672TP63c.709G>T (p.Val237Phe)
c.427G>T (p.Val143Phe)
c.172G>T (p.Val58Phe)
n.533G>T
c.658G>T (p.Val220Phe)
c.706G>T (p.Val236Phe)
c.703G>T (p.Val235Phe)
c.670G>T (p.Val224Phe)
3g.189864362T>ACA355753676TP63c.710T>A (p.Val237Asp)
c.428T>A (p.Val143Asp)
c.173T>A (p.Val58Asp)
n.534T>A
c.659T>A (p.Val220Asp)
c.707T>A (p.Val236Asp)
c.704T>A (p.Val235Asp)
c.671T>A (p.Val224Asp)
3g.189864362T>CCA355753677TP63c.710T>C (p.Val237Ala)
c.428T>C (p.Val143Ala)
c.173T>C (p.Val58Ala)
n.534T>C
c.659T>C (p.Val220Ala)
c.707T>C (p.Val236Ala)
c.704T>C (p.Val235Ala)
c.671T>C (p.Val224Ala)
3g.189864362T>GCA355753674TP63c.710T>G (p.Val237Gly)
c.428T>G (p.Val143Gly)
c.173T>G (p.Val58Gly)
n.534T>G
c.659T>G (p.Val220Gly)
c.707T>G (p.Val236Gly)
c.704T>G (p.Val235Gly)
c.671T>G (p.Val224Gly)
3g.189864363C>ACA437412948TP63c.711C>A (p.Val237=)
c.429C>A (p.Val143=)
c.174C>A (p.Val58=)
n.535C>A
c.660C>A (p.Val220=)
c.708C>A (p.Val236=)
c.705C>A (p.Val235=)
c.672C>A (p.Val224=)
3g.189864363C=CA1428525449TP63c.711C= (p.Val237=)
c.429C= (p.Val143=)
c.174C= (p.Val58=)
n.535C=
c.660C= (p.Val220=)
c.708C= (p.Val236=)
c.705C= (p.Val235=)
c.672C= (p.Val224=)
3g.189864363C>GCA437412949TP63c.711C>G (p.Val237=)
c.429C>G (p.Val143=)
c.174C>G (p.Val58=)
n.535C>G
c.660C>G (p.Val220=)
c.708C>G (p.Val236=)
c.705C>G (p.Val235=)
c.672C>G (p.Val224=)
3g.189864363C>TCA89742088TP63c.711C>T (p.Val237=)
c.429C>T (p.Val143=)
c.174C>T (p.Val58=)
n.535C>T
c.660C>T (p.Val220=)
c.708C>T (p.Val236=)
c.705C>T (p.Val235=)
c.672C>T (p.Val224=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864364A>CCA355753680TP63c.712A>C (p.Thr238Pro)
c.430A>C (p.Thr144Pro)
c.175A>C (p.Thr59Pro)
n.536A>C
c.661A>C (p.Thr221Pro)
c.709A>C (p.Thr237Pro)
c.706A>C (p.Thr236Pro)
c.673A>C (p.Thr225Pro)
3g.189864364A>GCA355753681TP63c.712A>G (p.Thr238Ala)
c.430A>G (p.Thr144Ala)
c.175A>G (p.Thr59Ala)
n.536A>G
c.661A>G (p.Thr221Ala)
c.709A>G (p.Thr237Ala)
c.706A>G (p.Thr236Ala)
c.673A>G (p.Thr225Ala)
3g.189864364A>TCA355753682TP63c.712A>T (p.Thr238Ser)
c.430A>T (p.Thr144Ser)
c.175A>T (p.Thr59Ser)
n.536A>T
c.661A>T (p.Thr221Ser)
c.709A>T (p.Thr237Ser)
c.706A>T (p.Thr236Ser)
c.673A>T (p.Thr225Ser)
3g.189864365C>ACA355753684TP63c.713C>A (p.Thr238Lys)
c.431C>A (p.Thr144Lys)
c.176C>A (p.Thr59Lys)
n.537C>A
c.662C>A (p.Thr221Lys)
c.710C>A (p.Thr237Lys)
c.707C>A (p.Thr236Lys)
c.674C>A (p.Thr225Lys)
3g.189864365C=CA1428525450TP63c.713C= (p.Thr238=)
c.431C= (p.Thr144=)
c.176C= (p.Thr59=)
n.537C=
c.662C= (p.Thr221=)
c.710C= (p.Thr237=)
c.707C= (p.Thr236=)
c.674C= (p.Thr225=)
3g.189864365C>GCA355753686TP63c.713C>G (p.Thr238Arg)
c.431C>G (p.Thr144Arg)
c.176C>G (p.Thr59Arg)
n.537C>G
c.662C>G (p.Thr221Arg)
c.710C>G (p.Thr237Arg)
c.707C>G (p.Thr236Arg)
c.674C>G (p.Thr225Arg)
3g.189864365C>TCA89742094TP63c.713C>T (p.Thr238Met)
c.431C>T (p.Thr144Met)
c.176C>T (p.Thr59Met)
n.537C>T
c.662C>T (p.Thr221Met)
c.710C>T (p.Thr237Met)
c.707C>T (p.Thr236Met)
c.674C>T (p.Thr225Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864366G>ACA2752231TP63c.714G>A (p.Thr238=)
c.432G>A (p.Thr144=)
c.177G>A (p.Thr59=)
n.538G>A
c.663G>A (p.Thr221=)
c.711G>A (p.Thr237=)
c.708G>A (p.Thr236=)
c.675G>A (p.Thr225=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864366G>CCA437412950TP63c.714G>C (p.Thr238=)
c.432G>C (p.Thr144=)
c.177G>C (p.Thr59=)
n.538G>C
c.663G>C (p.Thr221=)
c.711G>C (p.Thr237=)
c.708G>C (p.Thr236=)
c.675G>C (p.Thr225=)
3g.189864366G=CA1428525451TP63c.714G= (p.Thr238=)
c.432G= (p.Thr144=)
c.177G= (p.Thr59=)
n.538G=
c.663G= (p.Thr221=)
c.711G= (p.Thr237=)
c.708G= (p.Thr236=)
c.675G= (p.Thr225=)
3g.189864366G>TCA437412951TP63c.714G>T (p.Thr238=)
c.432G>T (p.Thr144=)
c.177G>T (p.Thr59=)
n.538G>T
c.663G>T (p.Thr221=)
c.711G>T (p.Thr237=)
c.708G>T (p.Thr236=)
c.675G>T (p.Thr225=)
3g.189864367G>ACA355753689TP63c.715G>A (p.Glu239Lys)
c.433G>A (p.Glu145Lys)
c.178G>A (p.Glu60Lys)
n.539G>A
c.664G>A (p.Glu222Lys)
c.712G>A (p.Glu238Lys)
c.709G>A (p.Glu237Lys)
c.676G>A (p.Glu226Lys)
3g.189864367G>CCA355753691TP63c.715G>C (p.Glu239Gln)
c.433G>C (p.Glu145Gln)
c.178G>C (p.Glu60Gln)
n.539G>C
c.664G>C (p.Glu222Gln)
c.712G>C (p.Glu238Gln)
c.709G>C (p.Glu237Gln)
c.676G>C (p.Glu226Gln)
3g.189864367G>TCA355753693TP63c.715G>T (p.Glu239Ter)
c.433G>T (p.Glu145Ter)
c.178G>T (p.Glu60Ter)
n.539G>T
c.664G>T (p.Glu222Ter)
c.712G>T (p.Glu238Ter)
c.709G>T (p.Glu237Ter)
c.676G>T (p.Glu226Ter)
3g.189864368A>CCA355753694TP63c.716A>C (p.Glu239Ala)
c.434A>C (p.Glu145Ala)
c.179A>C (p.Glu60Ala)
n.540A>C
c.665A>C (p.Glu222Ala)
c.713A>C (p.Glu238Ala)
c.710A>C (p.Glu237Ala)
c.677A>C (p.Glu226Ala)
3g.189864368A>GCA355753696TP63c.716A>G (p.Glu239Gly)
c.434A>G (p.Glu145Gly)
c.179A>G (p.Glu60Gly)
n.540A>G
c.665A>G (p.Glu222Gly)
c.713A>G (p.Glu238Gly)
c.710A>G (p.Glu237Gly)
c.677A>G (p.Glu226Gly)
3g.189864368A>TCA355753698TP63c.716A>T (p.Glu239Val)
c.434A>T (p.Glu145Val)
c.179A>T (p.Glu60Val)
n.540A>T
c.665A>T (p.Glu222Val)
c.713A>T (p.Glu238Val)
c.710A>T (p.Glu237Val)
c.677A>T (p.Glu226Val)
3g.189864369G>ACA437412952TP63c.717G>A (p.Glu239=)
c.435G>A (p.Glu145=)
c.180G>A (p.Glu60=)
n.541G>A
c.666G>A (p.Glu222=)
c.714G>A (p.Glu238=)
c.711G>A (p.Glu237=)
c.678G>A (p.Glu226=)
 gnomAD v4
3g.189864369G>CCA355753699TP63c.717G>C (p.Glu239Asp)
c.435G>C (p.Glu145Asp)
c.180G>C (p.Glu60Asp)
n.541G>C
c.666G>C (p.Glu222Asp)
c.714G>C (p.Glu238Asp)
c.711G>C (p.Glu237Asp)
c.678G>C (p.Glu226Asp)
3g.189864369G>TCA355753700TP63c.717G>T (p.Glu239Asp)
c.435G>T (p.Glu145Asp)
c.180G>T (p.Glu60Asp)
n.541G>T
c.666G>T (p.Glu222Asp)
c.714G>T (p.Glu238Asp)
c.711G>T (p.Glu237Asp)
c.678G>T (p.Glu226Asp)
3g.189864370G>ACA355753702TP63c.718G>A (p.Val240Met)
c.436G>A (p.Val146Met)
c.181G>A (p.Val61Met)
n.542G>A
c.667G>A (p.Val223Met)
c.715G>A (p.Val239Met)
c.712G>A (p.Val238Met)
c.679G>A (p.Val227Met)
 gnomAD v4
3g.189864370G>CCA355753704TP63c.718G>C (p.Val240Leu)
c.436G>C (p.Val146Leu)
c.181G>C (p.Val61Leu)
n.542G>C
c.667G>C (p.Val223Leu)
c.715G>C (p.Val239Leu)
c.712G>C (p.Val238Leu)
c.679G>C (p.Val227Leu)
3g.189864370G>TCA355753706TP63c.718G>T (p.Val240Leu)
c.436G>T (p.Val146Leu)
c.181G>T (p.Val61Leu)
n.542G>T
c.667G>T (p.Val223Leu)
c.715G>T (p.Val239Leu)
c.712G>T (p.Val238Leu)
c.679G>T (p.Val227Leu)
3g.189864371T>ACA355753707TP63c.719T>A (p.Val240Glu)
c.437T>A (p.Val146Glu)
c.182T>A (p.Val61Glu)
n.543T>A
c.668T>A (p.Val223Glu)
c.716T>A (p.Val239Glu)
c.713T>A (p.Val238Glu)
c.680T>A (p.Val227Glu)
3g.189864371T>CCA355753709TP63c.719T>C (p.Val240Ala)
c.437T>C (p.Val146Ala)
c.182T>C (p.Val61Ala)
n.543T>C
c.668T>C (p.Val223Ala)
c.716T>C (p.Val239Ala)
c.713T>C (p.Val238Ala)
c.680T>C (p.Val227Ala)
 dbSNP gnomAD v4
3g.189864371T>GCA355753711TP63c.719T>G (p.Val240Gly)
c.437T>G (p.Val146Gly)
c.182T>G (p.Val61Gly)
n.543T>G
c.668T>G (p.Val223Gly)
c.716T>G (p.Val239Gly)
c.713T>G (p.Val238Gly)
c.680T>G (p.Val227Gly)
3g.189864371T=CA1428525452TP63c.719T= (p.Val240=)
c.437T= (p.Val146=)
c.182T= (p.Val61=)
n.543T=
c.668T= (p.Val223=)
c.716T= (p.Val239=)
c.713T= (p.Val238=)
c.680T= (p.Val227=)
3g.189864372G>ACA437412953TP63c.720G>A (p.Val240=)
c.438G>A (p.Val146=)
c.183G>A (p.Val61=)
n.544G>A
c.669G>A (p.Val223=)
c.717G>A (p.Val239=)
c.714G>A (p.Val238=)
c.681G>A (p.Val227=)
3g.189864372G>CCA437412954TP63c.720G>C (p.Val240=)
c.438G>C (p.Val146=)
c.183G>C (p.Val61=)
n.544G>C
c.669G>C (p.Val223=)
c.717G>C (p.Val239=)
c.714G>C (p.Val238=)
c.681G>C (p.Val227=)
3g.189864372G>TCA437412955TP63c.720G>T (p.Val240=)
c.438G>T (p.Val146=)
c.183G>T (p.Val61=)
n.544G>T
c.669G>T (p.Val223=)
c.717G>T (p.Val239=)
c.714G>T (p.Val238=)
c.681G>T (p.Val227=)
 gnomAD v4
3g.189864373G>ACA355753713TP63c.721G>A (p.Val241Met)
c.439G>A (p.Val147Met)
c.184G>A (p.Val62Met)
n.545G>A
c.670G>A (p.Val224Met)
c.718G>A (p.Val240Met)
c.715G>A (p.Val239Met)
c.682G>A (p.Val228Met)
3g.189864373G>CCA355753714TP63c.721G>C (p.Val241Leu)
c.439G>C (p.Val147Leu)
c.184G>C (p.Val62Leu)
n.545G>C
c.670G>C (p.Val224Leu)
c.718G>C (p.Val240Leu)
c.715G>C (p.Val239Leu)
c.682G>C (p.Val228Leu)
3g.189864373G>TCA355753716TP63c.721G>T (p.Val241Leu)
c.439G>T (p.Val147Leu)
c.184G>T (p.Val62Leu)
n.545G>T
c.670G>T (p.Val224Leu)
c.718G>T (p.Val240Leu)
c.715G>T (p.Val239Leu)
c.682G>T (p.Val228Leu)
3g.189864374T>ACA355753718TP63c.722T>A (p.Val241Glu)
c.440T>A (p.Val147Glu)
c.185T>A (p.Val62Glu)
n.546T>A
c.671T>A (p.Val224Glu)
c.719T>A (p.Val240Glu)
c.716T>A (p.Val239Glu)
c.683T>A (p.Val228Glu)
3g.189864374T>CCA355753719TP63c.722T>C (p.Val241Ala)
c.440T>C (p.Val147Ala)
c.185T>C (p.Val62Ala)
n.546T>C
c.671T>C (p.Val224Ala)
c.719T>C (p.Val240Ala)
c.716T>C (p.Val239Ala)
c.683T>C (p.Val228Ala)
3g.189864374T>GCA355753721TP63c.722T>G (p.Val241Gly)
c.440T>G (p.Val147Gly)
c.185T>G (p.Val62Gly)
n.546T>G
c.671T>G (p.Val224Gly)
c.719T>G (p.Val240Gly)
c.716T>G (p.Val239Gly)
c.683T>G (p.Val228Gly)
3g.189864375G>ACA437412956TP63c.723G>A (p.Val241=)
c.441G>A (p.Val147=)
c.186G>A (p.Val62=)
n.547G>A
c.672G>A (p.Val224=)
c.720G>A (p.Val240=)
c.717G>A (p.Val239=)
c.684G>A (p.Val228=)
 COSMIC COSMIC COSMIC
3g.189864375G>CCA437412957TP63c.723G>C (p.Val241=)
c.441G>C (p.Val147=)
c.186G>C (p.Val62=)
n.547G>C
c.672G>C (p.Val224=)
c.720G>C (p.Val240=)
c.717G>C (p.Val239=)
c.684G>C (p.Val228=)
3g.189864375G>TCA437412958TP63c.723G>T (p.Val241=)
c.441G>T (p.Val147=)
c.186G>T (p.Val62=)
n.547G>T
c.672G>T (p.Val224=)
c.720G>T (p.Val240=)
c.717G>T (p.Val239=)
c.684G>T (p.Val228=)
3g.189864376A>CCA355753725TP63c.724A>C (p.Lys242Gln)
c.442A>C (p.Lys148Gln)
c.187A>C (p.Lys63Gln)
n.548A>C
c.673A>C (p.Lys225Gln)
c.721A>C (p.Lys241Gln)
c.718A>C (p.Lys240Gln)
c.685A>C (p.Lys229Gln)
3g.189864376A>GCA355753726TP63c.724A>G (p.Lys242Glu)
c.442A>G (p.Lys148Glu)
c.187A>G (p.Lys63Glu)
n.548A>G
c.673A>G (p.Lys225Glu)
c.721A>G (p.Lys241Glu)
c.718A>G (p.Lys240Glu)
c.685A>G (p.Lys229Glu)
3g.189864376A>TCA355753723TP63c.724A>T (p.Lys242Ter)
c.442A>T (p.Lys148Ter)
c.187A>T (p.Lys63Ter)
n.548A>T
c.673A>T (p.Lys225Ter)
c.721A>T (p.Lys241Ter)
c.718A>T (p.Lys240Ter)
c.685A>T (p.Lys229Ter)
3g.189864377A=CA1428525453TP63c.725A= (p.Lys242=)
c.443A= (p.Lys148=)
c.188A= (p.Lys63=)
n.549A=
c.674A= (p.Lys225=)
c.722A= (p.Lys241=)
c.719A= (p.Lys240=)
c.686A= (p.Lys229=)
3g.189864377A>CCA355753728TP63c.725A>C (p.Lys242Thr)
c.443A>C (p.Lys148Thr)
c.188A>C (p.Lys63Thr)
n.549A>C
c.674A>C (p.Lys225Thr)
c.722A>C (p.Lys241Thr)
c.719A>C (p.Lys240Thr)
c.686A>C (p.Lys229Thr)
3g.189864377A>GCA89742104TP63c.725A>G (p.Lys242Arg)
c.443A>G (p.Lys148Arg)
c.188A>G (p.Lys63Arg)
n.549A>G
c.674A>G (p.Lys225Arg)
c.722A>G (p.Lys241Arg)
c.719A>G (p.Lys240Arg)
c.686A>G (p.Lys229Arg)
 ClinVar dbSNP gnomAD v4
3g.189864377A>TCA355753731TP63c.725A>T (p.Lys242Met)
c.443A>T (p.Lys148Met)
c.188A>T (p.Lys63Met)
n.549A>T
c.674A>T (p.Lys225Met)
c.722A>T (p.Lys241Met)
c.719A>T (p.Lys240Met)
c.686A>T (p.Lys229Met)
3g.189864378G>ACA437412959TP63c.726G>A (p.Lys242=)
c.444G>A (p.Lys148=)
c.189G>A (p.Lys63=)
n.550G>A
c.675G>A (p.Lys225=)
c.723G>A (p.Lys241=)
c.720G>A (p.Lys240=)
c.687G>A (p.Lys229=)
 gnomAD v4
3g.189864378G>CCA355753732TP63c.726G>C (p.Lys242Asn)
c.444G>C (p.Lys148Asn)
c.189G>C (p.Lys63Asn)
n.550G>C
c.675G>C (p.Lys225Asn)
c.723G>C (p.Lys241Asn)
c.720G>C (p.Lys240Asn)
c.687G>C (p.Lys229Asn)
 gnomAD v4
3g.189864378G>TCA355753733TP63c.726G>T (p.Lys242Asn)
c.444G>T (p.Lys148Asn)
c.189G>T (p.Lys63Asn)
n.550G>T
c.675G>T (p.Lys225Asn)
c.723G>T (p.Lys241Asn)
c.720G>T (p.Lys240Asn)
c.687G>T (p.Lys229Asn)
3g.189864379C>ACA437412960TP63c.727C>A (p.Arg243=)
c.445C>A (p.Arg149=)
c.190C>A (p.Arg64=)
n.551C>A
c.676C>A (p.Arg226=)
c.724C>A (p.Arg242=)
c.721C>A (p.Arg241=)
c.688C>A (p.Arg230=)
3g.189864379C=CA1428525454TP63c.727C= (p.Arg243=)
c.445C= (p.Arg149=)
c.190C= (p.Arg64=)
n.551C=
c.676C= (p.Arg226=)
c.724C= (p.Arg242=)
c.721C= (p.Arg241=)
c.688C= (p.Arg230=)
3g.189864379C>GCA355753735TP63c.727C>G (p.Arg243Gly)
c.445C>G (p.Arg149Gly)
c.190C>G (p.Arg64Gly)
n.551C>G
c.676C>G (p.Arg226Gly)
c.724C>G (p.Arg242Gly)
c.721C>G (p.Arg241Gly)
c.688C>G (p.Arg230Gly)
3g.189864379C>TCA118334TP63c.727C>T (p.Arg243Trp)
c.445C>T (p.Arg149Trp)
c.190C>T (p.Arg64Trp)
n.551C>T
c.676C>T (p.Arg226Trp)
c.724C>T (p.Arg242Trp)
c.721C>T (p.Arg241Trp)
c.688C>T (p.Arg230Trp)
 ClinVar dbSNP gnomAD v4
3g.189864380G>ACA118335TP63c.728G>A (p.Arg243Gln)
c.446G>A (p.Arg149Gln)
c.191G>A (p.Arg64Gln)
n.552G>A
c.677G>A (p.Arg226Gln)
c.725G>A (p.Arg242Gln)
c.722G>A (p.Arg241Gln)
c.689G>A (p.Arg230Gln)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.189864380G>CCA355753737TP63c.728G>C (p.Arg243Pro)
c.446G>C (p.Arg149Pro)
c.191G>C (p.Arg64Pro)
n.552G>C
c.677G>C (p.Arg226Pro)
c.725G>C (p.Arg242Pro)
c.722G>C (p.Arg241Pro)
c.689G>C (p.Arg230Pro)
3g.189864380G=CA1428525455TP63c.728G= (p.Arg243=)
c.446G= (p.Arg149=)
c.191G= (p.Arg64=)
n.552G=
c.677G= (p.Arg226=)
c.725G= (p.Arg242=)
c.722G= (p.Arg241=)
c.689G= (p.Arg230=)
3g.189864380G>TCA355753738TP63c.728G>T (p.Arg243Leu)
c.446G>T (p.Arg149Leu)
c.191G>T (p.Arg64Leu)
n.552G>T
c.677G>T (p.Arg226Leu)
c.725G>T (p.Arg242Leu)
c.722G>T (p.Arg241Leu)
c.689G>T (p.Arg230Leu)
3g.189864381G>ACA89742126TP63c.729G>A (p.Arg243=)
c.447G>A (p.Arg149=)
c.192G>A (p.Arg64=)
n.553G>A
c.678G>A (p.Arg226=)
c.726G>A (p.Arg242=)
c.723G>A (p.Arg241=)
c.690G>A (p.Arg230=)
 dbSNP gnomAD v2 gnomAD v4
3g.189864381G>CCA437412961TP63c.729G>C (p.Arg243=)
c.447G>C (p.Arg149=)
c.192G>C (p.Arg64=)
n.553G>C
c.678G>C (p.Arg226=)
c.726G>C (p.Arg242=)
c.723G>C (p.Arg241=)
c.690G>C (p.Arg230=)
3g.189864381G=CA1428525456TP63c.729G= (p.Arg243=)
c.447G= (p.Arg149=)
c.192G= (p.Arg64=)
n.553G=
c.678G= (p.Arg226=)
c.726G= (p.Arg242=)
c.723G= (p.Arg241=)
c.690G= (p.Arg230=)
3g.189864381G>TCA437412962TP63c.729G>T (p.Arg243=)
c.447G>T (p.Arg149=)
c.192G>T (p.Arg64=)
n.553G>T
c.678G>T (p.Arg226=)
c.726G>T (p.Arg242=)
c.723G>T (p.Arg241=)
c.690G>T (p.Arg230=)
 dbSNP gnomAD v4
3g.189864382T>ACA355753739TP63c.730T>A (p.Cys244Ser)
c.448T>A (p.Cys150Ser)
c.193T>A (p.Cys65Ser)
n.554T>A
c.679T>A (p.Cys227Ser)
c.727T>A (p.Cys243Ser)
c.724T>A (p.Cys242Ser)
c.691T>A (p.Cys231Ser)
3g.189864382T>CCA355753740TP63c.730T>C (p.Cys244Arg)
c.448T>C (p.Cys150Arg)
c.193T>C (p.Cys65Arg)
n.554T>C
c.679T>C (p.Cys227Arg)
c.727T>C (p.Cys243Arg)
c.724T>C (p.Cys242Arg)
c.691T>C (p.Cys231Arg)
 ClinVar
3g.189864382T>GCA355753741TP63c.730T>G (p.Cys244Gly)
c.448T>G (p.Cys150Gly)
c.193T>G (p.Cys65Gly)
n.554T>G
c.679T>G (p.Cys227Gly)
c.727T>G (p.Cys243Gly)
c.724T>G (p.Cys242Gly)
c.691T>G (p.Cys231Gly)
3g.189864383G>ACA355753746TP63c.731G>A (p.Cys244Tyr)
c.449G>A (p.Cys150Tyr)
c.194G>A (p.Cys65Tyr)
n.555G>A
c.680G>A (p.Cys227Tyr)
c.728G>A (p.Cys243Tyr)
c.725G>A (p.Cys242Tyr)
c.692G>A (p.Cys231Tyr)
3g.189864383G>CCA355753745TP63c.731G>C (p.Cys244Ser)
c.449G>C (p.Cys150Ser)
c.194G>C (p.Cys65Ser)
n.555G>C
c.680G>C (p.Cys227Ser)
c.728G>C (p.Cys243Ser)
c.725G>C (p.Cys242Ser)
c.692G>C (p.Cys231Ser)
3g.189864383G>TCA355753744TP63c.731G>T (p.Cys244Phe)
c.449G>T (p.Cys150Phe)
c.194G>T (p.Cys65Phe)
n.555G>T
c.680G>T (p.Cys227Phe)
c.728G>T (p.Cys243Phe)
c.725G>T (p.Cys242Phe)
c.692G>T (p.Cys231Phe)
 ClinVar COSMIC
3g.189864384C>ACA355753747TP63c.732C>A (p.Cys244Ter)
c.450C>A (p.Cys150Ter)
c.195C>A (p.Cys65Ter)
n.556C>A
c.681C>A (p.Cys227Ter)
c.729C>A (p.Cys243Ter)
c.726C>A (p.Cys242Ter)
c.693C>A (p.Cys231Ter)
3g.189864384C>GCA355753748TP63c.732C>G (p.Cys244Trp)
c.450C>G (p.Cys150Trp)
c.195C>G (p.Cys65Trp)
n.556C>G
c.681C>G (p.Cys227Trp)
c.729C>G (p.Cys243Trp)
c.726C>G (p.Cys242Trp)
c.693C>G (p.Cys231Trp)
3g.189864384C>TCA437412963TP63c.732C>T (p.Cys244=)
c.450C>T (p.Cys150=)
c.195C>T (p.Cys65=)
n.556C>T
c.681C>T (p.Cys227=)
c.729C>T (p.Cys243=)
c.726C>T (p.Cys242=)
c.693C>T (p.Cys231=)
3g.189864385C>ACA355753752TP63c.733C>A (p.Pro245Thr)
c.451C>A (p.Pro151Thr)
c.196C>A (p.Pro66Thr)
n.557C>A
c.682C>A (p.Pro228Thr)
c.730C>A (p.Pro244Thr)
c.727C>A (p.Pro243Thr)
c.694C>A (p.Pro232Thr)
3g.189864385C>GCA355753754TP63c.733C>G (p.Pro245Ala)
c.451C>G (p.Pro151Ala)
c.196C>G (p.Pro66Ala)
n.557C>G
c.682C>G (p.Pro228Ala)
c.730C>G (p.Pro244Ala)
c.727C>G (p.Pro243Ala)
c.694C>G (p.Pro232Ala)
3g.189864385C>TCA355753755TP63c.733C>T (p.Pro245Ser)
c.451C>T (p.Pro151Ser)
c.196C>T (p.Pro66Ser)
n.557C>T
c.682C>T (p.Pro228Ser)
c.730C>T (p.Pro244Ser)
c.727C>T (p.Pro243Ser)
c.694C>T (p.Pro232Ser)
3g.189864386C>ACA355753756TP63c.734C>A (p.Pro245His)
c.452C>A (p.Pro151His)
c.197C>A (p.Pro66His)
n.558C>A
c.683C>A (p.Pro228His)
c.731C>A (p.Pro244His)
c.728C>A (p.Pro243His)
c.695C>A (p.Pro232His)
3g.189864386C>GCA355753758TP63c.734C>G (p.Pro245Arg)
c.452C>G (p.Pro151Arg)
c.197C>G (p.Pro66Arg)
n.558C>G
c.683C>G (p.Pro228Arg)
c.731C>G (p.Pro244Arg)
c.728C>G (p.Pro243Arg)
c.695C>G (p.Pro232Arg)
3g.189864386C>TCA355753759TP63c.734C>T (p.Pro245Leu)
c.452C>T (p.Pro151Leu)
c.197C>T (p.Pro66Leu)
n.558C>T
c.683C>T (p.Pro228Leu)
c.731C>T (p.Pro244Leu)
c.728C>T (p.Pro243Leu)
c.695C>T (p.Pro232Leu)
3g.189864387C>ACA437412964TP63c.735C>A (p.Pro245=)
c.453C>A (p.Pro151=)
c.198C>A (p.Pro66=)
n.559C>A
c.684C>A (p.Pro228=)
c.732C>A (p.Pro244=)
c.729C>A (p.Pro243=)
c.696C>A (p.Pro232=)
3g.189864387C>GCA437412965TP63c.735C>G (p.Pro245=)
c.453C>G (p.Pro151=)
c.198C>G (p.Pro66=)
n.559C>G
c.684C>G (p.Pro228=)
c.732C>G (p.Pro244=)
c.729C>G (p.Pro243=)
c.696C>G (p.Pro232=)
3g.189864387C>TCA437412966TP63c.735C>T (p.Pro245=)
c.453C>T (p.Pro151=)
c.198C>T (p.Pro66=)
n.559C>T
c.684C>T (p.Pro228=)
c.732C>T (p.Pro244=)
c.729C>T (p.Pro243=)
c.696C>T (p.Pro232=)
3g.189864388A>CCA355753761TP63c.736A>C (p.Asn246His)
c.454A>C (p.Asn152His)
c.199A>C (p.Asn67His)
n.560A>C
c.685A>C (p.Asn229His)
c.733A>C (p.Asn245His)
c.730A>C (p.Asn244His)
c.697A>C (p.Asn233His)
3g.189864388A>GCA355753762TP63c.736A>G (p.Asn246Asp)
c.454A>G (p.Asn152Asp)
c.199A>G (p.Asn67Asp)
n.560A>G
c.685A>G (p.Asn229Asp)
c.733A>G (p.Asn245Asp)
c.730A>G (p.Asn244Asp)
c.697A>G (p.Asn233Asp)
 ClinVar
3g.189864388A>TCA355753763TP63c.736A>T (p.Asn246Tyr)
c.454A>T (p.Asn152Tyr)
c.199A>T (p.Asn67Tyr)
n.560A>T
c.685A>T (p.Asn229Tyr)
c.733A>T (p.Asn245Tyr)
c.730A>T (p.Asn244Tyr)
c.697A>T (p.Asn233Tyr)
3g.189864389dupCA2759859264TP63c.737dup (p.Asn246LysfsTer3)
c.455dup (p.Asn152LysfsTer3)
c.200dup (p.Asn67LysfsTer3)
n.561dup
c.686dup (p.Asn229LysfsTer3)
c.734dup (p.Asn245LysfsTer3)
c.731dup (p.Asn244LysfsTer3)
c.698dup (p.Asn233LysfsTer3)
3g.189864389A>CCA355753764TP63c.737A>C (p.Asn246Thr)
c.455A>C (p.Asn152Thr)
c.200A>C (p.Asn67Thr)
n.561A>C
c.686A>C (p.Asn229Thr)
c.734A>C (p.Asn245Thr)
c.731A>C (p.Asn244Thr)
c.698A>C (p.Asn233Thr)
3g.189864389A>GCA355753765TP63c.737A>G (p.Asn246Ser)
c.455A>G (p.Asn152Ser)
c.200A>G (p.Asn67Ser)
n.561A>G
c.686A>G (p.Asn229Ser)
c.734A>G (p.Asn245Ser)
c.731A>G (p.Asn244Ser)
c.698A>G (p.Asn233Ser)
3g.189864389A>TCA355753767TP63c.737A>T (p.Asn246Ile)
c.455A>T (p.Asn152Ile)
c.200A>T (p.Asn67Ile)
n.561A>T
c.686A>T (p.Asn229Ile)
c.734A>T (p.Asn245Ile)
c.731A>T (p.Asn244Ile)
c.698A>T (p.Asn233Ile)
3g.189864390C>ACA355753770TP63c.738C>A (p.Asn246Lys)
c.456C>A (p.Asn152Lys)
c.201C>A (p.Asn67Lys)
n.562C>A
c.687C>A (p.Asn229Lys)
c.735C>A (p.Asn245Lys)
c.732C>A (p.Asn244Lys)
c.699C>A (p.Asn233Lys)
3g.189864390C=CA1428525457TP63c.738C= (p.Asn246=)
c.456C= (p.Asn152=)
c.201C= (p.Asn67=)
n.562C=
c.687C= (p.Asn229=)
c.735C= (p.Asn245=)
c.732C= (p.Asn244=)
c.699C= (p.Asn233=)
3g.189864390C>GCA355753768TP63c.738C>G (p.Asn246Lys)
c.456C>G (p.Asn152Lys)
c.201C>G (p.Asn67Lys)
n.562C>G
c.687C>G (p.Asn229Lys)
c.735C>G (p.Asn245Lys)
c.732C>G (p.Asn244Lys)
c.699C>G (p.Asn233Lys)
 ClinVar dbSNP
3g.189864390C>TCA437412967TP63c.738C>T (p.Asn246=)
c.456C>T (p.Asn152=)
c.201C>T (p.Asn67=)
n.562C>T
c.687C>T (p.Asn229=)
c.735C>T (p.Asn245=)
c.732C>T (p.Asn244=)
c.699C>T (p.Asn233=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.189864390_189864391insACACCCAACACA2759859265TP63c.738_739insACACCCAACA (p.His247ThrfsTer5)
c.456_457insACACCCAACA (p.His153ThrfsTer5)
c.201_202insACACCCAACA (p.His68ThrfsTer5)
n.562_563insACACCCAACA
c.687_688insACACCCAACA (p.His230ThrfsTer5)
c.735_736insACACCCAACA (p.His246ThrfsTer5)
c.732_733insACACCCAACA (p.His245ThrfsTer5)
c.699_700insACACCCAACA (p.His234ThrfsTer5)
3g.189864391C>ACA355753771TP63c.739C>A (p.His247Asn)
c.457C>A (p.His153Asn)
c.202C>A (p.His68Asn)
n.563C>A
c.688C>A (p.His230Asn)
c.736C>A (p.His246Asn)
c.733C>A (p.His245Asn)
c.700C>A (p.His234Asn)
3g.189864391C=CA1428489406TP63c.739C= (p.His247=)
c.457C= (p.His153=)
c.202C= (p.His68=)
n.563C=
c.688C= (p.His230=)
c.736C= (p.His246=)
c.733C= (p.His245=)
c.700C= (p.His234=)
3g.189864391C>GCA355753775TP63c.739C>G (p.His247Asp)
c.457C>G (p.His153Asp)
c.202C>G (p.His68Asp)
n.563C>G
c.688C>G (p.His230Asp)
c.736C>G (p.His246Asp)
c.733C>G (p.His245Asp)
c.700C>G (p.His234Asp)
 ClinVar
3g.189864391C>TCA355753773TP63c.739C>T (p.His247Tyr)
c.457C>T (p.His153Tyr)
c.202C>T (p.His68Tyr)
n.563C>T
c.688C>T (p.His230Tyr)
c.736C>T (p.His246Tyr)
c.733C>T (p.His245Tyr)
c.700C>T (p.His234Tyr)
 ClinVar dbSNP
3g.189864392A=CA1428489417TP63c.740A= (p.His247=)
c.458A= (p.His153=)
c.203A= (p.His68=)
n.564A=
c.689A= (p.His230=)
c.737A= (p.His246=)
c.734A= (p.His245=)
c.701A= (p.His234=)
3g.189864392A>CCA355753777TP63c.740A>C (p.His247Pro)
c.458A>C (p.His153Pro)
c.203A>C (p.His68Pro)
n.564A>C
c.689A>C (p.His230Pro)
c.737A>C (p.His246Pro)
c.734A>C (p.His245Pro)
c.701A>C (p.His234Pro)
3g.189864392A>GCA339766TP63c.740A>G (p.His247Arg)
c.458A>G (p.His153Arg)
c.203A>G (p.His68Arg)
n.564A>G
c.689A>G (p.His230Arg)
c.737A>G (p.His246Arg)
c.734A>G (p.His245Arg)
c.701A>G (p.His234Arg)
 ClinVar dbSNP
3g.189864392A>TCA355753778TP63c.740A>T (p.His247Leu)
c.458A>T (p.His153Leu)
c.203A>T (p.His68Leu)
n.564A>T
c.689A>T (p.His230Leu)
c.737A>T (p.His246Leu)
c.734A>T (p.His245Leu)
c.701A>T (p.His234Leu)
3g.189864393T>ACA355753781TP63c.741T>A (p.His247Gln)
c.459T>A (p.His153Gln)
c.204T>A (p.His68Gln)
n.565T>A
c.690T>A (p.His230Gln)
c.738T>A (p.His246Gln)
c.735T>A (p.His245Gln)
c.702T>A (p.His234Gln)
3g.189864393T>CCA437412969TP63c.741T>C (p.His247=)
c.459T>C (p.His153=)
c.204T>C (p.His68=)
n.565T>C
c.690T>C (p.His230=)
c.738T>C (p.His246=)
c.735T>C (p.His245=)
c.702T>C (p.His234=)
3g.189864393T>GCA355753782TP63c.741T>G (p.His247Gln)
c.459T>G (p.His153Gln)
c.204T>G (p.His68Gln)
n.565T>G
c.690T>G (p.His230Gln)
c.738T>G (p.His246Gln)
c.735T>G (p.His245Gln)
c.702T>G (p.His234Gln)
3g.189864394G>ACA355753785TP63c.742G>A (p.Glu248Lys)
c.460G>A (p.Glu154Lys)
c.205G>A (p.Glu69Lys)
n.566G>A
c.691G>A (p.Glu231Lys)
c.739G>A (p.Glu247Lys)
c.736G>A (p.Glu246Lys)
c.703G>A (p.Glu235Lys)
 gnomAD v4
3g.189864394G>CCA355753788TP63c.742G>C (p.Glu248Gln)
c.460G>C (p.Glu154Gln)
c.205G>C (p.Glu69Gln)
n.566G>C
c.691G>C (p.Glu231Gln)
c.739G>C (p.Glu247Gln)
c.736G>C (p.Glu246Gln)
c.703G>C (p.Glu235Gln)
3g.189864394G>TCA355753786TP63c.742G>T (p.Glu248Ter)
c.460G>T (p.Glu154Ter)
c.205G>T (p.Glu69Ter)
n.566G>T
c.691G>T (p.Glu231Ter)
c.739G>T (p.Glu247Ter)
c.736G>T (p.Glu246Ter)
c.703G>T (p.Glu235Ter)
3g.189864395A>CCA355753789TP63c.743A>C (p.Glu248Ala)
c.461A>C (p.Glu154Ala)
c.206A>C (p.Glu69Ala)
n.567A>C
c.692A>C (p.Glu231Ala)
c.740A>C (p.Glu247Ala)
c.737A>C (p.Glu246Ala)
c.704A>C (p.Glu235Ala)
3g.189864395A>GCA355753791TP63c.743A>G (p.Glu248Gly)
c.461A>G (p.Glu154Gly)
c.206A>G (p.Glu69Gly)
n.567A>G
c.692A>G (p.Glu231Gly)
c.740A>G (p.Glu247Gly)
c.737A>G (p.Glu246Gly)
c.704A>G (p.Glu235Gly)
3g.189864395A>TCA355753792TP63c.743A>T (p.Glu248Val)
c.461A>T (p.Glu154Val)
c.206A>T (p.Glu69Val)
n.567A>T
c.692A>T (p.Glu231Val)
c.740A>T (p.Glu247Val)
c.737A>T (p.Glu246Val)
c.704A>T (p.Glu235Val)
3g.189864396G>ACA437412971TP63c.744G>A (p.Glu248=)
c.462G>A (p.Glu154=)
c.207G>A (p.Glu69=)
n.568G>A
c.693G>A (p.Glu231=)
c.741G>A (p.Glu247=)
c.738G>A (p.Glu246=)
c.705G>A (p.Glu235=)
 dbSNP
3g.189864396G>CCA355753794TP63c.744G>C (p.Glu248Asp)
c.462G>C (p.Glu154Asp)
c.207G>C (p.Glu69Asp)
n.568G>C
c.693G>C (p.Glu231Asp)
c.741G>C (p.Glu247Asp)
c.738G>C (p.Glu246Asp)
c.705G>C (p.Glu235Asp)
3g.189864396G>TCA355753796TP63c.744G>T (p.Glu248Asp)
c.462G>T (p.Glu154Asp)
c.207G>T (p.Glu69Asp)
n.568G>T
c.693G>T (p.Glu231Asp)
c.741G>T (p.Glu247Asp)
c.738G>T (p.Glu246Asp)
c.705G>T (p.Glu235Asp)
3g.189864397C>ACA355753797TP63c.745C>A (p.Leu249Met)
c.463C>A (p.Leu155Met)
c.208C>A (p.Leu70Met)
n.569C>A
c.694C>A (p.Leu232Met)
c.742C>A (p.Leu248Met)
c.739C>A (p.Leu247Met)
c.706C>A (p.Leu236Met)
3g.189864397C>GCA355753798TP63c.745C>G (p.Leu249Val)
c.463C>G (p.Leu155Val)
c.208C>G (p.Leu70Val)
n.569C>G
c.694C>G (p.Leu232Val)
c.742C>G (p.Leu248Val)
c.739C>G (p.Leu247Val)
c.706C>G (p.Leu236Val)
3g.189864397C>TCA437412972TP63c.745C>T (p.Leu249=)
c.463C>T (p.Leu155=)
c.208C>T (p.Leu70=)
n.569C>T
c.694C>T (p.Leu232=)
c.742C>T (p.Leu248=)
c.739C>T (p.Leu247=)
c.706C>T (p.Leu236=)
3g.189864398T>ACA355753800TP63c.746T>A (p.Leu249Gln)
c.464T>A (p.Leu155Gln)
c.209T>A (p.Leu70Gln)
n.570T>A
c.695T>A (p.Leu232Gln)
c.743T>A (p.Leu248Gln)
c.740T>A (p.Leu247Gln)
c.707T>A (p.Leu236Gln)
3g.189864398T>CCA355753801TP63c.746T>C (p.Leu249Pro)
c.464T>C (p.Leu155Pro)
c.209T>C (p.Leu70Pro)
n.570T>C
c.695T>C (p.Leu232Pro)
c.743T>C (p.Leu248Pro)
c.740T>C (p.Leu247Pro)
c.707T>C (p.Leu236Pro)
3g.189864398T>GCA355753803TP63c.746T>G (p.Leu249Arg)
c.464T>G (p.Leu155Arg)
c.209T>G (p.Leu70Arg)
n.570T>G
c.695T>G (p.Leu232Arg)
c.743T>G (p.Leu248Arg)
c.740T>G (p.Leu247Arg)
c.707T>G (p.Leu236Arg)
3g.189864399G>ACA437412975TP63c.747G>A (p.Leu249=)
c.465G>A (p.Leu155=)
c.210G>A (p.Leu70=)
n.571G>A
c.696G>A (p.Leu232=)
c.744G>A (p.Leu248=)
c.741G>A (p.Leu247=)
c.708G>A (p.Leu236=)
3g.189864399G>CCA437412977TP63c.747G>C (p.Leu249=)
c.465G>C (p.Leu155=)
c.210G>C (p.Leu70=)
n.571G>C
c.696G>C (p.Leu232=)
c.744G>C (p.Leu248=)
c.741G>C (p.Leu247=)
c.708G>C (p.Leu236=)
3g.189864399G>TCA437412976TP63c.747G>T (p.Leu249=)
c.465G>T (p.Leu155=)
c.210G>T (p.Leu70=)
n.571G>T
c.696G>T (p.Leu232=)
c.744G>T (p.Leu248=)
c.741G>T (p.Leu247=)
c.708G>T (p.Leu236=)
3g.189864400A>CCA355753805TP63c.748A>C (p.Ser250Arg)
c.466A>C (p.Ser156Arg)
c.211A>C (p.Ser71Arg)
n.572A>C
c.697A>C (p.Ser233Arg)
c.745A>C (p.Ser249Arg)
c.742A>C (p.Ser248Arg)
c.709A>C (p.Ser237Arg)
3g.189864400A>GCA355753806TP63c.748A>G (p.Ser250Gly)
c.466A>G (p.Ser156Gly)
c.211A>G (p.Ser71Gly)
n.572A>G
c.697A>G (p.Ser233Gly)
c.745A>G (p.Ser249Gly)
c.742A>G (p.Ser248Gly)
c.709A>G (p.Ser237Gly)
3g.189864400A>TCA355753808TP63c.748A>T (p.Ser250Cys)
c.466A>T (p.Ser156Cys)
c.211A>T (p.Ser71Cys)
n.572A>T
c.697A>T (p.Ser233Cys)
c.745A>T (p.Ser249Cys)
c.742A>T (p.Ser248Cys)
c.709A>T (p.Ser237Cys)
3g.189864401G>ACA355753810TP63c.749G>A (p.Ser250Asn)
c.467G>A (p.Ser156Asn)
c.212G>A (p.Ser71Asn)
n.573G>A
c.698G>A (p.Ser233Asn)
c.746G>A (p.Ser249Asn)
c.743G>A (p.Ser248Asn)
c.710G>A (p.Ser237Asn)
 gnomAD v4
3g.189864401G>CCA355753813TP63c.749G>C (p.Ser250Thr)
c.467G>C (p.Ser156Thr)
c.212G>C (p.Ser71Thr)
n.573G>C
c.698G>C (p.Ser233Thr)
c.746G>C (p.Ser249Thr)
c.743G>C (p.Ser248Thr)
c.710G>C (p.Ser237Thr)
3g.189864401G>TCA355753812TP63c.749G>T (p.Ser250Ile)
c.467G>T (p.Ser156Ile)
c.212G>T (p.Ser71Ile)
n.573G>T
c.698G>T (p.Ser233Ile)
c.746G>T (p.Ser249Ile)
c.743G>T (p.Ser248Ile)
c.710G>T (p.Ser237Ile)
3g.189864402C>ACA355753815TP63c.750C>A (p.Ser250Arg)
c.468C>A (p.Ser156Arg)
c.213C>A (p.Ser71Arg)
n.574C>A
c.699C>A (p.Ser233Arg)
c.747C>A (p.Ser249Arg)
c.744C>A (p.Ser248Arg)
c.711C>A (p.Ser237Arg)
3g.189864402C=CA1428489423TP63c.750C= (p.Ser250=)
c.468C= (p.Ser156=)
c.213C= (p.Ser71=)
n.574C=
c.699C= (p.Ser233=)
c.747C= (p.Ser249=)
c.744C= (p.Ser248=)
c.711C= (p.Ser237=)
3g.189864402C>GCA355753817TP63c.750C>G (p.Ser250Arg)
c.468C>G (p.Ser156Arg)
c.213C>G (p.Ser71Arg)
n.574C>G
c.699C>G (p.Ser233Arg)
c.747C>G (p.Ser249Arg)
c.744C>G (p.Ser248Arg)
c.711C>G (p.Ser237Arg)
3g.189864402C>TCA2752232TP63c.750C>T (p.Ser250=)
c.468C>T (p.Ser156=)
c.213C>T (p.Ser71=)
n.574C>T
c.699C>T (p.Ser233=)
c.747C>T (p.Ser249=)
c.744C>T (p.Ser248=)
c.711C>T (p.Ser237=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864403C>ACA355753819TP63c.751C>A (p.Arg251Ser)
c.469C>A (p.Arg157Ser)
c.214C>A (p.Arg72Ser)
n.575C>A
c.700C>A (p.Arg234Ser)
c.748C>A (p.Arg250Ser)
c.745C>A (p.Arg249Ser)
c.712C>A (p.Arg238Ser)
3g.189864403C>GCA355753821TP63c.751C>G (p.Arg251Gly)
c.469C>G (p.Arg157Gly)
c.214C>G (p.Arg72Gly)
n.575C>G
c.700C>G (p.Arg234Gly)
c.748C>G (p.Arg250Gly)
c.745C>G (p.Arg249Gly)
c.712C>G (p.Arg238Gly)
3g.189864403C>TCA355753823TP63c.751C>T (p.Arg251Cys)
c.469C>T (p.Arg157Cys)
c.214C>T (p.Arg72Cys)
n.575C>T
c.700C>T (p.Arg234Cys)
c.748C>T (p.Arg250Cys)
c.745C>T (p.Arg249Cys)
c.712C>T (p.Arg238Cys)
 gnomAD v4
3g.189864404G>ACA355753825TP63c.752G>A (p.Arg251His)
c.470G>A (p.Arg157His)
c.215G>A (p.Arg72His)
n.576G>A
c.701G>A (p.Arg234His)
c.749G>A (p.Arg250His)
c.746G>A (p.Arg249His)
c.713G>A (p.Arg238His)
 dbSNP gnomAD v2 gnomAD v4
3g.189864404G>CCA355753826TP63c.752G>C (p.Arg251Pro)
c.470G>C (p.Arg157Pro)
c.215G>C (p.Arg72Pro)
n.576G>C
c.701G>C (p.Arg234Pro)
c.749G>C (p.Arg250Pro)
c.746G>C (p.Arg249Pro)
c.713G>C (p.Arg238Pro)
3g.189864404G=CA1428489427TP63c.752G= (p.Arg251=)
c.470G= (p.Arg157=)
c.215G= (p.Arg72=)
n.576G=
c.701G= (p.Arg234=)
c.749G= (p.Arg250=)
c.746G= (p.Arg249=)
c.713G= (p.Arg238=)
3g.189864404G>TCA355753828TP63c.752G>T (p.Arg251Leu)
c.470G>T (p.Arg157Leu)
c.215G>T (p.Arg72Leu)
n.576G>T
c.701G>T (p.Arg234Leu)
c.749G>T (p.Arg250Leu)
c.746G>T (p.Arg249Leu)
c.713G>T (p.Arg238Leu)
3g.189864405T>ACA437412982TP63c.753T>A (p.Arg251=)
c.471T>A (p.Arg157=)
c.216T>A (p.Arg72=)
n.577T>A
c.702T>A (p.Arg234=)
c.750T>A (p.Arg250=)
c.747T>A (p.Arg249=)
c.714T>A (p.Arg238=)
3g.189864405T>CCA2752233TP63c.753T>C (p.Arg251=)
c.471T>C (p.Arg157=)
c.216T>C (p.Arg72=)
n.577T>C
c.702T>C (p.Arg234=)
c.750T>C (p.Arg250=)
c.747T>C (p.Arg249=)
c.714T>C (p.Arg238=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864405T>GCA437412983TP63c.753T>G (p.Arg251=)
c.471T>G (p.Arg157=)
c.216T>G (p.Arg72=)
n.577T>G
c.702T>G (p.Arg234=)
c.750T>G (p.Arg250=)
c.747T>G (p.Arg249=)
c.714T>G (p.Arg238=)
3g.189864405T=CA1428489429TP63c.753T= (p.Arg251=)
c.471T= (p.Arg157=)
c.216T= (p.Arg72=)
n.577T=
c.702T= (p.Arg234=)
c.750T= (p.Arg250=)
c.747T= (p.Arg249=)
c.714T= (p.Arg238=)
3g.189864406G>ACA355753832TP63c.754G>A (p.Glu252Lys)
c.472G>A (p.Glu158Lys)
c.217G>A (p.Glu73Lys)
n.578G>A
c.703G>A (p.Glu235Lys)
c.751G>A (p.Glu251Lys)
c.748G>A (p.Glu250Lys)
c.715G>A (p.Glu239Lys)
3g.189864406G>CCA355753831TP63c.754G>C (p.Glu252Gln)
c.472G>C (p.Glu158Gln)
c.217G>C (p.Glu73Gln)
n.578G>C
c.703G>C (p.Glu235Gln)
c.751G>C (p.Glu251Gln)
c.748G>C (p.Glu250Gln)
c.715G>C (p.Glu239Gln)
3g.189864406G>TCA355753830TP63c.754G>T (p.Glu252Ter)
c.472G>T (p.Glu158Ter)
c.217G>T (p.Glu73Ter)
n.578G>T
c.703G>T (p.Glu235Ter)
c.751G>T (p.Glu251Ter)
c.748G>T (p.Glu250Ter)
c.715G>T (p.Glu239Ter)
3g.189864407A>CCA355753834TP63c.755A>C (p.Glu252Ala)
c.473A>C (p.Glu158Ala)
c.218A>C (p.Glu73Ala)
n.579A>C
c.704A>C (p.Glu235Ala)
c.752A>C (p.Glu251Ala)
c.749A>C (p.Glu250Ala)
c.716A>C (p.Glu239Ala)
3g.189864407A>GCA355753835TP63c.755A>G (p.Glu252Gly)
c.473A>G (p.Glu158Gly)
c.218A>G (p.Glu73Gly)
n.579A>G
c.704A>G (p.Glu235Gly)
c.752A>G (p.Glu251Gly)
c.749A>G (p.Glu250Gly)
c.716A>G (p.Glu239Gly)
3g.189864407A>TCA355753837TP63c.755A>T (p.Glu252Val)
c.473A>T (p.Glu158Val)
c.218A>T (p.Glu73Val)
n.579A>T
c.704A>T (p.Glu235Val)
c.752A>T (p.Glu251Val)
c.749A>T (p.Glu250Val)
c.716A>T (p.Glu239Val)
3g.189864408A>CCA355753839TP63c.756A>C (p.Glu252Asp)
c.474A>C (p.Glu158Asp)
c.219A>C (p.Glu73Asp)
n.580A>C
c.705A>C (p.Glu235Asp)
c.753A>C (p.Glu251Asp)
c.750A>C (p.Glu250Asp)
c.717A>C (p.Glu239Asp)
3g.189864408A>GCA437412988TP63c.756A>G (p.Glu252=)
c.474A>G (p.Glu158=)
c.219A>G (p.Glu73=)
n.580A>G
c.705A>G (p.Glu235=)
c.753A>G (p.Glu251=)
c.750A>G (p.Glu250=)
c.717A>G (p.Glu239=)
3g.189864408A>TCA355753840TP63c.756A>T (p.Glu252Asp)
c.474A>T (p.Glu158Asp)
c.219A>T (p.Glu73Asp)
n.580A>T
c.705A>T (p.Glu235Asp)
c.753A>T (p.Glu251Asp)
c.750A>T (p.Glu250Asp)
c.717A>T (p.Glu239Asp)
3g.189864409T>ACA355753843TP63c.757T>A (p.Phe253Ile)
c.475T>A (p.Phe159Ile)
c.220T>A (p.Phe74Ile)
n.581T>A
c.706T>A (p.Phe236Ile)
c.754T>A (p.Phe252Ile)
c.751T>A (p.Phe251Ile)
c.718T>A (p.Phe240Ile)
3g.189864409T>CCA355753844TP63c.757T>C (p.Phe253Leu)
c.475T>C (p.Phe159Leu)
c.220T>C (p.Phe74Leu)
n.581T>C
c.706T>C (p.Phe236Leu)
c.754T>C (p.Phe252Leu)
c.751T>C (p.Phe251Leu)
c.718T>C (p.Phe240Leu)
3g.189864409T>GCA355753845TP63c.757T>G (p.Phe253Val)
c.475T>G (p.Phe159Val)
c.220T>G (p.Phe74Val)
n.581T>G
c.706T>G (p.Phe236Val)
c.754T>G (p.Phe252Val)
c.751T>G (p.Phe251Val)
c.718T>G (p.Phe240Val)
3g.189864410T>ACA355753848TP63c.758T>A (p.Phe253Tyr)
c.476T>A (p.Phe159Tyr)
c.221T>A (p.Phe74Tyr)
n.582T>A
c.707T>A (p.Phe236Tyr)
c.755T>A (p.Phe252Tyr)
c.752T>A (p.Phe251Tyr)
c.719T>A (p.Phe240Tyr)
3g.189864410T>CCA355753850TP63c.758T>C (p.Phe253Ser)
c.476T>C (p.Phe159Ser)
c.221T>C (p.Phe74Ser)
n.582T>C
c.707T>C (p.Phe236Ser)
c.755T>C (p.Phe252Ser)
c.752T>C (p.Phe251Ser)
c.719T>C (p.Phe240Ser)
3g.189864410T>GCA355753851TP63c.758T>G (p.Phe253Cys)
c.476T>G (p.Phe159Cys)
c.221T>G (p.Phe74Cys)
n.582T>G
c.707T>G (p.Phe236Cys)
c.755T>G (p.Phe252Cys)
c.752T>G (p.Phe251Cys)
c.719T>G (p.Phe240Cys)
3g.189864411C>ACA355753853TP63c.759C>A (p.Phe253Leu)
c.477C>A (p.Phe159Leu)
c.222C>A (p.Phe74Leu)
n.583C>A
c.708C>A (p.Phe236Leu)
c.756C>A (p.Phe252Leu)
c.753C>A (p.Phe251Leu)
c.720C>A (p.Phe240Leu)
3g.189864411C>GCA355753855TP63c.759C>G (p.Phe253Leu)
c.477C>G (p.Phe159Leu)
c.222C>G (p.Phe74Leu)
n.583C>G
c.708C>G (p.Phe236Leu)
c.756C>G (p.Phe252Leu)
c.753C>G (p.Phe251Leu)
c.720C>G (p.Phe240Leu)
3g.189864411C>TCA437412990TP63c.759C>T (p.Phe253=)
c.477C>T (p.Phe159=)
c.222C>T (p.Phe74=)
n.583C>T
c.708C>T (p.Phe236=)
c.756C>T (p.Phe252=)
c.753C>T (p.Phe251=)
c.720C>T (p.Phe240=)
3g.189864412A>CCA355753859TP63c.760A>C (p.Asn254His)
c.478A>C (p.Asn160His)
c.223A>C (p.Asn75His)
n.584A>C
c.709A>C (p.Asn237His)
c.757A>C (p.Asn253His)
c.754A>C (p.Asn252His)
c.721A>C (p.Asn241His)
3g.189864412A>GCA355753857TP63c.760A>G (p.Asn254Asp)
c.478A>G (p.Asn160Asp)
c.223A>G (p.Asn75Asp)
n.584A>G
c.709A>G (p.Asn237Asp)
c.757A>G (p.Asn253Asp)
c.754A>G (p.Asn252Asp)
c.721A>G (p.Asn241Asp)
3g.189864412A>TCA355753858TP63c.760A>T (p.Asn254Tyr)
c.478A>T (p.Asn160Tyr)
c.223A>T (p.Asn75Tyr)
n.584A>T
c.709A>T (p.Asn237Tyr)
c.757A>T (p.Asn253Tyr)
c.754A>T (p.Asn252Tyr)
c.721A>T (p.Asn241Tyr)
3g.189864413A>CCA355753861TP63c.761A>C (p.Asn254Thr)
c.479A>C (p.Asn160Thr)
c.224A>C (p.Asn75Thr)
n.585A>C
c.710A>C (p.Asn237Thr)
c.758A>C (p.Asn253Thr)
c.755A>C (p.Asn252Thr)
c.722A>C (p.Asn241Thr)
3g.189864413A>GCA355753862TP63c.761A>G (p.Asn254Ser)
c.479A>G (p.Asn160Ser)
c.224A>G (p.Asn75Ser)
n.585A>G
c.710A>G (p.Asn237Ser)
c.758A>G (p.Asn253Ser)
c.755A>G (p.Asn252Ser)
c.722A>G (p.Asn241Ser)
3g.189864413A>TCA355753864TP63c.761A>T (p.Asn254Ile)
c.479A>T (p.Asn160Ile)
c.224A>T (p.Asn75Ile)
n.585A>T
c.710A>T (p.Asn237Ile)
c.758A>T (p.Asn253Ile)
c.755A>T (p.Asn252Ile)
c.722A>T (p.Asn241Ile)
3g.189864414C>ACA355753866TP63c.762C>A (p.Asn254Lys)
c.480C>A (p.Asn160Lys)
c.225C>A (p.Asn75Lys)
n.586C>A
c.711C>A (p.Asn237Lys)
c.759C>A (p.Asn253Lys)
c.756C>A (p.Asn252Lys)
c.723C>A (p.Asn241Lys)
3g.189864414C=CA1428489454TP63c.762C= (p.Asn254=)
c.480C= (p.Asn160=)
c.225C= (p.Asn75=)
n.586C=
c.711C= (p.Asn237=)
c.759C= (p.Asn253=)
c.756C= (p.Asn252=)
c.723C= (p.Asn241=)
3g.189864414C>GCA355753867TP63c.762C>G (p.Asn254Lys)
c.480C>G (p.Asn160Lys)
c.225C>G (p.Asn75Lys)
n.586C>G
c.711C>G (p.Asn237Lys)
c.759C>G (p.Asn253Lys)
c.756C>G (p.Asn252Lys)
c.723C>G (p.Asn241Lys)
3g.189864414C>TCA2752234TP63c.762C>T (p.Asn254=)
c.480C>T (p.Asn160=)
c.225C>T (p.Asn75=)
n.586C>T
c.711C>T (p.Asn237=)
c.759C>T (p.Asn253=)
c.756C>T (p.Asn252=)
c.723C>T (p.Asn241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.189864415G>ACA355753869TP63c.763G>A (p.Glu255Lys)
c.481G>A (p.Glu161Lys)
c.226G>A (p.Glu76Lys)
n.587G>A
c.712G>A (p.Glu238Lys)
c.760G>A (p.Glu254Lys)
c.757G>A (p.Glu253Lys)
c.724G>A (p.Glu242Lys)
 ClinVar COSMIC COSMIC COSMIC
3g.189864415G>CCA355753870TP63c.763G>C (p.Glu255Gln)
c.481G>C (p.Glu161Gln)
c.226G>C (p.Glu76Gln)
n.587G>C
c.712G>C (p.Glu238Gln)
c.760G>C (p.Glu254Gln)
c.757G>C (p.Glu253Gln)
c.724G>C (p.Glu242Gln)
3g.189864415G>TCA355753872TP63c.763G>T (p.Glu255Ter)
c.481G>T (p.Glu161Ter)
c.226G>T (p.Glu76Ter)
n.587G>T
c.712G>T (p.Glu238Ter)
c.760G>T (p.Glu254Ter)
c.757G>T (p.Glu253Ter)
c.724G>T (p.Glu242Ter)
3g.189864416A>CCA355753874TP63c.764A>C (p.Glu255Ala)
c.482A>C (p.Glu161Ala)
c.227A>C (p.Glu76Ala)
n.588A>C
c.713A>C (p.Glu238Ala)
c.761A>C (p.Glu254Ala)
c.758A>C (p.Glu253Ala)
c.725A>C (p.Glu242Ala)
3g.189864416A>GCA355753875TP63c.764A>G (p.Glu255Gly)
c.482A>G (p.Glu161Gly)
c.227A>G (p.Glu76Gly)
n.588A>G
c.713A>G (p.Glu238Gly)
c.761A>G (p.Glu254Gly)
c.758A>G (p.Glu253Gly)
c.725A>G (p.Glu242Gly)
3g.189864416A>TCA355753876TP63c.764A>T (p.Glu255Val)
c.482A>T (p.Glu161Val)
c.227A>T (p.Glu76Val)
n.588A>T
c.713A>T (p.Glu238Val)
c.761A>T (p.Glu254Val)
c.758A>T (p.Glu253Val)
c.725A>T (p.Glu242Val)
3g.189864417G>ACA437412995TP63c.765G>A (p.Glu255=)
c.483G>A (p.Glu161=)
c.228G>A (p.Glu76=)
n.589G>A
c.714G>A (p.Glu238=)
c.762G>A (p.Glu254=)
c.759G>A (p.Glu253=)
c.726G>A (p.Glu242=)
3g.189864417G>CCA355753878TP63c.765G>C (p.Glu255Asp)
c.483G>C (p.Glu161Asp)
c.228G>C (p.Glu76Asp)
n.589G>C
c.714G>C (p.Glu238Asp)
c.762G>C (p.Glu254Asp)
c.759G>C (p.Glu253Asp)
c.726G>C (p.Glu242Asp)
3g.189864417G>TCA355753880TP63c.765G>T (p.Glu255Asp)
c.483G>T (p.Glu161Asp)
c.228G>T (p.Glu76Asp)
n.589G>T
c.714G>T (p.Glu238Asp)
c.762G>T (p.Glu254Asp)
c.759G>T (p.Glu253Asp)
c.726G>T (p.Glu242Asp)
3g.189864418G>ACA355753881TP63c.766G>A (p.Gly256Arg)
c.484G>A (p.Gly162Arg)
c.229G>A (p.Gly77Arg)
n.590G>A
c.715G>A (p.Gly239Arg)
c.763G>A (p.Gly255Arg)
c.760G>A (p.Gly254Arg)
c.727G>A (p.Gly243Arg)
3g.189864418G>CCA355753885TP63c.766G>C (p.Gly256Arg)
c.484G>C (p.Gly162Arg)
c.229G>C (p.Gly77Arg)
n.590G>C
c.715G>C (p.Gly239Arg)
c.763G>C (p.Gly255Arg)
c.760G>C (p.Gly254Arg)
c.727G>C (p.Gly243Arg)
3g.189864418G>TCA355753883TP63c.766G>T (p.Gly256Ter)
c.484G>T (p.Gly162Ter)
c.229G>T (p.Gly77Ter)
n.590G>T
c.715G>T (p.Gly239Ter)
c.763G>T (p.Gly255Ter)
c.760G>T (p.Gly254Ter)
c.727G>T (p.Gly243Ter)
3g.189864419G>ACA355753887TP63c.766+1G>A (n.766+1G>A)
c.484+1G>A (n.484+1G>A)
c.229+1G>A (n.229+1G>A)
n.590+1G>A
c.715+1G>A (n.715+1G>A)
c.763+1G>A (n.763+1G>A)
c.760+1G>A (n.760+1G>A)
c.727+1G>A (n.727+1G>A)
 COSMIC
3g.189864419G>CCA355753888TP63c.766+1G>C (n.766+1G>C)
c.484+1G>C (n.484+1G>C)
c.229+1G>C (n.229+1G>C)
n.590+1G>C
c.715+1G>C (n.715+1G>C)
c.763+1G>C (n.763+1G>C)
c.760+1G>C (n.760+1G>C)
c.727+1G>C (n.727+1G>C)
3g.189864419G=CA1428489456TP63c.766+1G= (n.766+1G=)
c.484+1G= (n.484+1G=)
c.229+1G= (n.229+1G=)
n.590+1G=
c.715+1G= (n.715+1G=)
c.763+1G= (n.763+1G=)
c.760+1G= (n.760+1G=)
c.727+1G= (n.727+1G=)
3g.189864419G>TCA355753889TP63c.766+1G>T (n.766+1G>T)
c.484+1G>T (n.484+1G>T)
c.229+1G>T (n.229+1G>T)
n.590+1G>T
c.715+1G>T (n.715+1G>T)
c.763+1G>T (n.763+1G>T)
c.760+1G>T (n.760+1G>T)
c.727+1G>T (n.727+1G>T)
 dbSNP
3g.189864420T>ACA355753890TP63c.766+2T>A (n.766+2T>A)
c.484+2T>A (n.484+2T>A)
c.229+2T>A (n.229+2T>A)
n.590+2T>A
c.715+2T>A (n.715+2T>A)
c.763+2T>A (n.763+2T>A)
c.760+2T>A (n.760+2T>A)
c.727+2T>A (n.727+2T>A)
3g.189864420T>CCA355753891TP63c.766+2T>C (n.766+2T>C)
c.484+2T>C (n.484+2T>C)
c.229+2T>C (n.229+2T>C)
n.590+2T>C
c.715+2T>C (n.715+2T>C)
c.763+2T>C (n.763+2T>C)
c.760+2T>C (n.760+2T>C)
c.727+2T>C (n.727+2T>C)
3g.189864420T>GCA355753893TP63c.766+2T>G (n.766+2T>G)
c.484+2T>G (n.484+2T>G)
c.229+2T>G (n.229+2T>G)
n.590+2T>G
c.715+2T>G (n.715+2T>G)
c.763+2T>G (n.763+2T>G)
c.760+2T>G (n.760+2T>G)
c.727+2T>G (n.727+2T>G)
3g.189864421A=CA1428489460TP63c.766+3A= (n.766+3A=)
c.484+3A= (n.484+3A=)
c.229+3A= (n.229+3A=)
n.590+3A=
c.715+3A= (n.715+3A=)
c.763+3A= (n.763+3A=)
c.760+3A= (n.760+3A=)
c.727+3A= (n.727+3A=)
3g.189864421A>GCA10615402TP63c.766+3A>G (n.766+3A>G)
c.484+3A>G (n.484+3A>G)
c.229+3A>G (n.229+3A>G)
n.590+3A>G
c.715+3A>G (n.715+3A>G)
c.763+3A>G (n.763+3A>G)
c.760+3A>G (n.760+3A>G)
c.727+3A>G (n.727+3A>G)
 ClinVar dbSNP
3g.189864423G>ACA2752235TP63c.766+5G>A (n.766+5G>A)
c.484+5G>A (n.484+5G>A)
c.229+5G>A (n.229+5G>A)
n.590+5G>A
c.715+5G>A (n.715+5G>A)
c.763+5G>A (n.763+5G>A)
c.760+5G>A (n.760+5G>A)
c.727+5G>A (n.727+5G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864423G=CA1428489483TP63c.766+5G= (n.766+5G=)
c.484+5G= (n.484+5G=)
c.229+5G= (n.229+5G=)
n.590+5G=
c.715+5G= (n.715+5G=)
c.763+5G= (n.763+5G=)
c.760+5G= (n.760+5G=)
c.727+5G= (n.727+5G=)
3g.189864425_189864431delinsAGAATTTCA1428489490TP63c.766+7_766+13delinsAGAATTT (n.766+7_766+13delinsAGAATTT)
c.484+7_484+13delinsAGAATTT (n.484+7_484+13delinsAGAATTT)
c.229+7_229+13delinsAGAATTT (n.229+7_229+13delinsAGAATTT)
n.590+7_590+13delinsAGAATTT
c.715+7_715+13delinsAGAATTT (n.715+7_715+13delinsAGAATTT)
c.763+7_763+13delinsAGAATTT (n.763+7_763+13delinsAGAATTT)
c.760+7_760+13delinsAGAATTT (n.760+7_760+13delinsAGAATTT)
c.727+7_727+13delinsAGAATTT (n.727+7_727+13delinsAGAATTT)
3g.189864426G>ACA2669041946TP63c.766+8G>A (n.766+8G>A)
c.484+8G>A (n.484+8G>A)
c.229+8G>A (n.229+8G>A)
n.590+8G>A
c.715+8G>A (n.715+8G>A)
c.763+8G>A (n.763+8G>A)
c.760+8G>A (n.760+8G>A)
c.727+8G>A (n.727+8G>A)
 gnomAD v4
3g.189864430_189864435delCA1428489492TP63c.766+12_766+17del (n.766+12_766+17del)
c.484+12_484+17del (n.484+12_484+17del)
c.229+12_229+17del (n.229+12_229+17del)
n.590+12_590+17del
c.715+12_715+17del (n.715+12_715+17del)
c.763+12_763+17del (n.763+12_763+17del)
c.760+12_760+17del (n.760+12_760+17del)
c.727+12_727+17del (n.727+12_727+17del)
 dbSNP
3g.189864429T>CCA2752236TP63c.766+11T>C (n.766+11T>C)
c.484+11T>C (n.484+11T>C)
c.229+11T>C (n.229+11T>C)
n.590+11T>C
c.715+11T>C (n.715+11T>C)
c.763+11T>C (n.763+11T>C)
c.760+11T>C (n.760+11T>C)
c.727+11T>C (n.727+11T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864429T=CA1428489495TP63c.766+11T= (n.766+11T=)
c.484+11T= (n.484+11T=)
c.229+11T= (n.229+11T=)
n.590+11T=
c.715+11T= (n.715+11T=)
c.763+11T= (n.763+11T=)
c.760+11T= (n.760+11T=)
c.727+11T= (n.727+11T=)
3g.189864431T>ACA1057637969TP63c.766+13T>A (n.766+13T>A)
c.484+13T>A (n.484+13T>A)
c.229+13T>A (n.229+13T>A)
n.590+13T>A
c.715+13T>A (n.715+13T>A)
c.763+13T>A (n.763+13T>A)
c.760+13T>A (n.760+13T>A)
c.727+13T>A (n.727+13T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.189864431T=CA1428489498TP63c.766+13T= (n.766+13T=)
c.484+13T= (n.484+13T=)
c.229+13T= (n.229+13T=)
n.590+13T=
c.715+13T= (n.715+13T=)
c.763+13T= (n.763+13T=)
c.760+13T= (n.760+13T=)
c.727+13T= (n.727+13T=)
3g.189864432G>ACA2669041947TP63c.766+14G>A (n.766+14G>A)
c.484+14G>A (n.484+14G>A)
c.229+14G>A (n.229+14G>A)
n.590+14G>A
c.715+14G>A (n.715+14G>A)
c.763+14G>A (n.763+14G>A)
c.760+14G>A (n.760+14G>A)
c.727+14G>A (n.727+14G>A)
 gnomAD v4
3g.189864432G>CCA2669041948TP63c.766+14G>C (n.766+14G>C)
c.484+14G>C (n.484+14G>C)
c.229+14G>C (n.229+14G>C)
n.590+14G>C
c.715+14G>C (n.715+14G>C)
c.763+14G>C (n.763+14G>C)
c.760+14G>C (n.760+14G>C)
c.727+14G>C (n.727+14G>C)
 gnomAD v4
3g.189864433A>GCA2669041949TP63c.766+15A>G (n.766+15A>G)
c.484+15A>G (n.484+15A>G)
c.229+15A>G (n.229+15A>G)
n.590+15A>G
c.715+15A>G (n.715+15A>G)
c.763+15A>G (n.763+15A>G)
c.760+15A>G (n.760+15A>G)
c.727+15A>G (n.727+15A>G)
 gnomAD v4
3g.189864434A=CA1428489500TP63c.766+16A= (n.766+16A=)
c.484+16A= (n.484+16A=)
c.229+16A= (n.229+16A=)
n.590+16A=
c.715+16A= (n.715+16A=)
c.763+16A= (n.763+16A=)
c.760+16A= (n.760+16A=)
c.727+16A= (n.727+16A=)
3g.189864434A>GCA1428489505TP63c.766+16A>G (n.766+16A>G)
c.484+16A>G (n.484+16A>G)
c.229+16A>G (n.229+16A>G)
n.590+16A>G
c.715+16A>G (n.715+16A>G)
c.763+16A>G (n.763+16A>G)
c.760+16A>G (n.760+16A>G)
c.727+16A>G (n.727+16A>G)
 dbSNP gnomAD v4
3g.189864435_189864437delCA2669041950TP63c.766+17_766+19del (n.766+17_766+19del)
c.484+17_484+19del (n.484+17_484+19del)
c.229+17_229+19del (n.229+17_229+19del)
n.590+17_590+19del
c.715+17_715+19del (n.715+17_715+19del)
c.763+17_763+19del (n.763+17_763+19del)
c.760+17_760+19del (n.760+17_760+19del)
c.727+17_727+19del (n.727+17_727+19del)
 gnomAD v4
3g.189864436C>ACA1057637970TP63c.766+18C>A (n.766+18C>A)
c.484+18C>A (n.484+18C>A)
c.229+18C>A (n.229+18C>A)
n.590+18C>A
c.715+18C>A (n.715+18C>A)
c.763+18C>A (n.763+18C>A)
c.760+18C>A (n.760+18C>A)
c.727+18C>A (n.727+18C>A)
 dbSNP gnomAD v3 gnomAD v4
3g.189864436C=CA1428489509TP63c.766+18C= (n.766+18C=)
c.484+18C= (n.484+18C=)
c.229+18C= (n.229+18C=)
n.590+18C=
c.715+18C= (n.715+18C=)
c.763+18C= (n.763+18C=)
c.760+18C= (n.760+18C=)
c.727+18C= (n.727+18C=)
3g.189864436C>TCA548483410TP63c.766+18C>T (n.766+18C>T)
c.484+18C>T (n.484+18C>T)
c.229+18C>T (n.229+18C>T)
n.590+18C>T
c.715+18C>T (n.715+18C>T)
c.763+18C>T (n.763+18C>T)
c.760+18C>T (n.760+18C>T)
c.727+18C>T (n.727+18C>T)
 dbSNP gnomAD v2 gnomAD v4
3g.189864438C>ACA2669041951TP63c.766+20C>A (n.766+20C>A)
c.484+20C>A (n.484+20C>A)
c.229+20C>A (n.229+20C>A)
n.590+20C>A
c.715+20C>A (n.715+20C>A)
c.763+20C>A (n.763+20C>A)
c.760+20C>A (n.760+20C>A)
c.727+20C>A (n.727+20C>A)
 gnomAD v4
3g.189864438C=CA1428489514TP63c.766+20C= (n.766+20C=)
c.484+20C= (n.484+20C=)
c.229+20C= (n.229+20C=)
n.590+20C=
c.715+20C= (n.715+20C=)
c.763+20C= (n.763+20C=)
c.760+20C= (n.760+20C=)
c.727+20C= (n.727+20C=)
3g.189864438C>GCA2752237TP63c.766+20C>G (n.766+20C>G)
c.484+20C>G (n.484+20C>G)
c.229+20C>G (n.229+20C>G)
n.590+20C>G
c.715+20C>G (n.715+20C>G)
c.763+20C>G (n.763+20C>G)
c.760+20C>G (n.760+20C>G)
c.727+20C>G (n.727+20C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864438C>TCA2669041952TP63c.766+20C>T (n.766+20C>T)
c.484+20C>T (n.484+20C>T)
c.229+20C>T (n.229+20C>T)
n.590+20C>T
c.715+20C>T (n.715+20C>T)
c.763+20C>T (n.763+20C>T)
c.760+20C>T (n.760+20C>T)
c.727+20C>T (n.727+20C>T)
 gnomAD v4
3g.189864439dupCA548483411TP63c.766+21dup (n.766+21dup)
c.484+21dup (n.484+21dup)
c.229+21dup (n.229+21dup)
n.590+21dup
c.715+21dup (n.715+21dup)
c.763+21dup (n.763+21dup)
c.760+21dup (n.760+21dup)
c.727+21dup (n.727+21dup)
 dbSNP gnomAD v2 gnomAD v4
3g.189864443_189864450dupCA2759859266TP63c.766+25_766+32dup (n.766+25_766+32dup)
c.484+25_484+32dup (n.484+25_484+32dup)
c.229+25_229+32dup (n.229+25_229+32dup)
n.590+25_590+32dup
c.715+25_715+32dup (n.715+25_715+32dup)
c.763+25_763+32dup (n.763+25_763+32dup)
c.760+25_760+32dup (n.760+25_760+32dup)
c.727+25_727+32dup (n.727+25_727+32dup)
3g.189864441A>GCA2669041953TP63c.766+23A>G (n.766+23A>G)
c.484+23A>G (n.484+23A>G)
c.229+23A>G (n.229+23A>G)
n.590+23A>G
c.715+23A>G (n.715+23A>G)
c.763+23A>G (n.763+23A>G)
c.760+23A>G (n.760+23A>G)
c.727+23A>G (n.727+23A>G)
 gnomAD v4
3g.189864442C>GCA2577989818TP63c.766+24C>G (n.766+24C>G)
c.484+24C>G (n.484+24C>G)
c.229+24C>G (n.229+24C>G)
n.590+24C>G
c.715+24C>G (n.715+24C>G)
c.763+24C>G (n.763+24C>G)
c.760+24C>G (n.760+24C>G)
c.727+24C>G (n.727+24C>G)
 gnomAD v4
3g.189864443T>ACA2752238TP63c.766+25T>A (n.766+25T>A)
c.484+25T>A (n.484+25T>A)
c.229+25T>A (n.229+25T>A)
n.590+25T>A
c.715+25T>A (n.715+25T>A)
c.763+25T>A (n.763+25T>A)
c.760+25T>A (n.760+25T>A)
c.727+25T>A (n.727+25T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864443T=CA1428489526TP63c.766+25T= (n.766+25T=)
c.484+25T= (n.484+25T=)
c.229+25T= (n.229+25T=)
n.590+25T=
c.715+25T= (n.715+25T=)
c.763+25T= (n.763+25T=)
c.760+25T= (n.760+25T=)
c.727+25T= (n.727+25T=)
3g.189864444G>ACA2752239TP63c.766+26G>A (n.766+26G>A)
c.484+26G>A (n.484+26G>A)
c.229+26G>A (n.229+26G>A)
n.590+26G>A
c.715+26G>A (n.715+26G>A)
c.763+26G>A (n.763+26G>A)
c.760+26G>A (n.760+26G>A)
c.727+26G>A (n.727+26G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.189864444G=CA1428489565TP63c.766+26G= (n.766+26G=)
c.484+26G= (n.484+26G=)
c.229+26G= (n.229+26G=)
n.590+26G=
c.715+26G= (n.715+26G=)
c.763+26G= (n.763+26G=)
c.760+26G= (n.760+26G=)
c.727+26G= (n.727+26G=)
3g.189864445T>ACA2669041954TP63c.766+27T>A (n.766+27T>A)
c.484+27T>A (n.484+27T>A)
c.229+27T>A (n.229+27T>A)
n.590+27T>A
c.715+27T>A (n.715+27T>A)
c.763+27T>A (n.763+27T>A)
c.760+27T>A (n.760+27T>A)
c.727+27T>A (n.727+27T>A)
 gnomAD v4
3g.189864446T>ACA2669041955TP63c.766+28T>A (n.766+28T>A)
c.484+28T>A (n.484+28T>A)
c.229+28T>A (n.229+28T>A)
n.590+28T>A
c.715+28T>A (n.715+28T>A)
c.763+28T>A (n.763+28T>A)
c.760+28T>A (n.760+28T>A)
c.727+28T>A (n.727+28T>A)
 gnomAD v4
3g.189864447C>ACA2669041956TP63c.766+29C>A (n.766+29C>A)
c.484+29C>A (n.484+29C>A)
c.229+29C>A (n.229+29C>A)
n.590+29C>A
c.715+29C>A (n.715+29C>A)
c.763+29C>A (n.763+29C>A)
c.760+29C>A (n.760+29C>A)
c.727+29C>A (n.727+29C>A)
 gnomAD v4
3g.189864447C>TCA2669041957TP63c.766+29C>T (n.766+29C>T)
c.484+29C>T (n.484+29C>T)
c.229+29C>T (n.229+29C>T)
n.590+29C>T
c.715+29C>T (n.715+29C>T)
c.763+29C>T (n.763+29C>T)
c.760+29C>T (n.760+29C>T)
c.727+29C>T (n.727+29C>T)
 gnomAD v4
3g.189864449A>CCA2669041958TP63c.766+31A>C (n.766+31A>C)
c.484+31A>C (n.484+31A>C)
c.229+31A>C (n.229+31A>C)
n.590+31A>C
c.715+31A>C (n.715+31A>C)
c.763+31A>C (n.763+31A>C)
c.760+31A>C (n.760+31A>C)
c.727+31A>C (n.727+31A>C)
 gnomAD v4
3g.189864449A>GCA2577989819TP63c.766+31A>G (n.766+31A>G)
c.484+31A>G (n.484+31A>G)
c.229+31A>G (n.229+31A>G)
n.590+31A>G
c.715+31A>G (n.715+31A>G)
c.763+31A>G (n.763+31A>G)
c.760+31A>G (n.760+31A>G)
c.727+31A>G (n.727+31A>G)
 gnomAD v4
3g.189864450C>TCA2669041959TP63c.766+32C>T (n.766+32C>T)
c.484+32C>T (n.484+32C>T)
c.229+32C>T (n.229+32C>T)
n.590+32C>T
c.715+32C>T (n.715+32C>T)
c.763+32C>T (n.763+32C>T)
c.760+32C>T (n.760+32C>T)
c.727+32C>T (n.727+32C>T)
 gnomAD v4
3g.189864451C=CA1428489570TP63c.766+33C= (n.766+33C=)
c.484+33C= (n.484+33C=)
c.229+33C= (n.229+33C=)
n.590+33C=
c.715+33C= (n.715+33C=)
c.763+33C= (n.763+33C=)
c.760+33C= (n.760+33C=)
c.727+33C= (n.727+33C=)
3g.189864451C>TCA2752240TP63c.766+33C>T (n.766+33C>T)
c.484+33C>T (n.484+33C>T)
c.229+33C>T (n.229+33C>T)
n.590+33C>T
c.715+33C>T (n.715+33C>T)
c.763+33C>T (n.763+33C>T)
c.760+33C>T (n.760+33C>T)
c.727+33C>T (n.727+33C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864452T>ACA1428489577TP63c.766+34T>A (n.766+34T>A)
c.484+34T>A (n.484+34T>A)
c.229+34T>A (n.229+34T>A)
n.590+34T>A
c.715+34T>A (n.715+34T>A)
c.763+34T>A (n.763+34T>A)
c.760+34T>A (n.760+34T>A)
c.727+34T>A (n.727+34T>A)
 dbSNP gnomAD v4
3g.189864452T>CCA2581887987TP63c.766+34T>C (n.766+34T>C)
c.484+34T>C (n.484+34T>C)
c.229+34T>C (n.229+34T>C)
n.590+34T>C
c.715+34T>C (n.715+34T>C)
c.763+34T>C (n.763+34T>C)
c.760+34T>C (n.760+34T>C)
c.727+34T>C (n.727+34T>C)
3g.189864452T>GCA2752241TP63c.766+34T>G (n.766+34T>G)
c.484+34T>G (n.484+34T>G)
c.229+34T>G (n.229+34T>G)
n.590+34T>G
c.715+34T>G (n.715+34T>G)
c.763+34T>G (n.763+34T>G)
c.760+34T>G (n.760+34T>G)
c.727+34T>G (n.727+34T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.189864452T=CA1428489575TP63c.766+34T= (n.766+34T=)
c.484+34T= (n.484+34T=)
c.229+34T= (n.229+34T=)
n.590+34T=
c.715+34T= (n.715+34T=)
c.763+34T= (n.763+34T=)
c.760+34T= (n.760+34T=)
c.727+34T= (n.727+34T=)
3g.189864454C>GCA2669041960TP63c.766+36C>G (n.766+36C>G)
c.484+36C>G (n.484+36C>G)
c.229+36C>G (n.229+36C>G)
n.590+36C>G
c.715+36C>G (n.715+36C>G)
c.763+36C>G (n.763+36C>G)
c.760+36C>G (n.760+36C>G)
c.727+36C>G (n.727+36C>G)
 gnomAD v4
3g.189864455T>CCA89742211TP63c.766+37T>C (n.766+37T>C)
c.484+37T>C (n.484+37T>C)
c.229+37T>C (n.229+37T>C)
n.590+37T>C
c.715+37T>C (n.715+37T>C)
c.763+37T>C (n.763+37T>C)
c.760+37T>C (n.760+37T>C)
c.727+37T>C (n.727+37T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.189864455T=CA1428489580TP63c.766+37T= (n.766+37T=)
c.484+37T= (n.484+37T=)
c.229+37T= (n.229+37T=)
n.590+37T=
c.715+37T= (n.715+37T=)
c.763+37T= (n.763+37T=)
c.760+37T= (n.760+37T=)
c.727+37T= (n.727+37T=)
3g.189864456delCA2669041961TP63c.766+38del (n.766+38del)
c.484+38del (n.484+38del)
c.229+38del (n.229+38del)
n.590+38del
c.715+38del (n.715+38del)
c.763+38del (n.763+38del)
c.760+38del (n.760+38del)
c.727+38del (n.727+38del)
 gnomAD v4
3g.189864456T>ACA2669041962TP63c.766+38T>A (n.766+38T>A)
c.484+38T>A (n.484+38T>A)
c.229+38T>A (n.229+38T>A)
n.590+38T>A
c.715+38T>A (n.715+38T>A)
c.763+38T>A (n.763+38T>A)
c.760+38T>A (n.760+38T>A)
c.727+38T>A (n.727+38T>A)
 gnomAD v4

Number of alleles fetched