Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.67940281A>CCA396376001LCATc.946T>G (p.Tyr316Asp)
c.156-207T>G
c.730T>G (p.Tyr244Asp)
c.684T>G (n.684T>G)
16g.67940281A>GCA396376002LCATc.946T>C (p.Tyr316His)
c.156-207T>C
c.730T>C (p.Tyr244His)
c.684T>C (n.684T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.67940281A>TCA396376003LCATc.946T>A (p.Tyr316Asn)
c.156-207T>A
c.730T>A (p.Tyr244Asn)
c.684T>A (n.684T>A)
16g.67940282C>ACA396376004LCATc.945G>T (p.Trp315Cys)
c.156-208G>T
c.729G>T (p.Trp243Cys)
c.683G>T (n.683G>T)
16g.67940282C>GCA396376005LCATc.945G>C (p.Trp315Cys)
c.156-208G>C
c.729G>C (p.Trp243Cys)
c.683G>C (n.683G>C)
16g.67940282C>TCA396376006LCATc.945G>A (p.Trp315Ter)
c.156-208G>A
c.729G>A (p.Trp243Ter)
c.683G>A (n.683G>A)
16g.67940283C>ACA396376007LCATc.944G>T (p.Trp315Leu)
c.156-209G>T
c.728G>T (p.Trp243Leu)
c.682G>T (n.682G>T)
16g.67940283C=CA2229563294LCATc.944G= (p.Trp315=)
c.156-209G=
c.728G= (p.Trp243=)
c.682G= (n.682G=)
16g.67940283C>GCA396376009LCATc.944G>C (p.Trp315Ser)
c.156-209G>C
c.728G>C (p.Trp243Ser)
c.682G>C (n.682G>C)
 dbSNP
16g.67940283C>TCA396376008LCATc.944G>A (p.Trp315Ter)
c.156-209G>A
c.728G>A (p.Trp243Ter)
c.682G>A (n.682G>A)
16g.67940284A>CCA396376010LCATc.943T>G (p.Trp315Gly)
c.156-210T>G
c.727T>G (p.Trp243Gly)
c.681T>G (n.681T>G)
16g.67940284A>GCA396376011LCATc.943T>C (p.Trp315Arg)
c.156-210T>C
c.727T>C (p.Trp243Arg)
c.681T>C (n.681T>C)
 gnomAD v4
16g.67940284A>TCA396376012LCATc.943T>A (p.Trp315Arg)
c.156-210T>A
c.727T>A (p.Trp243Arg)
c.681T>A (n.681T>A)
16g.67940285G>ACA496384118LCATc.942C>T (p.Gly314=)
c.156-211C>T
c.726C>T (p.Gly242=)
c.680C>T (n.680C>T)
 dbSNP
16g.67940285G>CCA496384119LCATc.942C>G (p.Gly314=)
c.156-211C>G
c.726C>G (p.Gly242=)
c.680C>G (n.680C>G)
16g.67940285G=CA2229563295LCATc.942C= (p.Gly314=)
c.156-211C=
c.726C= (p.Gly242=)
c.680C= (n.680C=)
16g.67940285G>TCA496384120LCATc.942C>A (p.Gly314=)
c.156-211C>A
c.726C>A (p.Gly242=)
c.680C>A (n.680C>A)
16g.67940286C>ACA396376013LCATc.941G>T (p.Gly314Val)
c.156-212G>T
c.725G>T (p.Gly242Val)
c.679G>T (n.679G>T)
16g.67940286C>GCA396376014LCATc.941G>C (p.Gly314Ala)
c.156-212G>C
c.725G>C (p.Gly242Ala)
c.679G>C (n.679G>C)
16g.67940286C>TCA396376015LCATc.941G>A (p.Gly314Asp)
c.156-212G>A
c.725G>A (p.Gly242Asp)
c.679G>A (n.679G>A)
 gnomAD v4
16g.67940287C>ACA396376016LCATc.940G>T (p.Gly314Cys)
c.156-213G>T
c.724G>T (p.Gly242Cys)
c.678G>T (n.678G>T)
16g.67940287C>GCA396376017LCATc.940G>C (p.Gly314Arg)
c.156-213G>C
c.724G>C (p.Gly242Arg)
c.678G>C (n.678G>C)
16g.67940287C>TCA396376018LCATc.940G>A (p.Gly314Ser)
c.156-213G>A
c.724G>A (p.Gly242Ser)
c.678G>A (n.678G>A)
16g.67940288T>ACA396376019LCATc.939A>T (p.Glu313Asp)
c.156-214A>T
c.723A>T (p.Glu241Asp)
c.677A>T (n.677A>T)
16g.67940288T>CCA496384121LCATc.939A>G (p.Glu313=)
c.156-214A>G
c.723A>G (p.Glu241=)
c.677A>G (n.677A>G)
 COSMIC
16g.67940288T>GCA396376020LCATc.939A>C (p.Glu313Asp)
c.156-214A>C
c.723A>C (p.Glu241Asp)
c.677A>C (n.677A>C)
16g.67940289T>ACA396376023LCATc.938A>T (p.Glu313Val)
c.156-215A>T
c.722A>T (p.Glu241Val)
c.676A>T (n.676A>T)
16g.67940289T>CCA396376021LCATc.938A>G (p.Glu313Gly)
c.156-215A>G
c.722A>G (p.Glu241Gly)
c.676A>G (n.676A>G)
16g.67940289T>GCA396376022LCATc.938A>C (p.Glu313Ala)
c.156-215A>C
c.722A>C (p.Glu241Ala)
c.676A>C (n.676A>C)
16g.67940290C>ACA396376024LCATc.937G>T (p.Glu313Ter)
c.156-216G>T
c.721G>T (p.Glu241Ter)
c.675G>T (n.675G>T)
16g.67940290C=CA2229563296LCATc.937G= (p.Glu313=)
c.156-216G=
c.721G= (p.Glu241=)
c.675G= (n.675G=)
16g.67940290C>GCA396376025LCATc.937G>C (p.Glu313Gln)
c.156-216G>C
c.721G>C (p.Glu241Gln)
c.675G>C (n.675G>C)
16g.67940290C>TCA8120929LCATc.937G>A (p.Glu313Lys)
c.156-216G>A
c.721G>A (p.Glu241Lys)
c.675G>A (n.675G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940291C>ACA396376026LCATc.936G>T (p.Glu312Asp)
c.156-217G>T
c.720G>T (p.Glu240Asp)
c.674G>T (n.674G>T)
16g.67940291C=CA2229563297LCATc.936G= (p.Glu312=)
c.156-217G=
c.720G= (p.Glu240=)
c.674G= (n.674G=)
16g.67940291C>GCA396376027LCATc.936G>C (p.Glu312Asp)
c.156-217G>C
c.720G>C (p.Glu240Asp)
c.674G>C (n.674G>C)
16g.67940291C>TCA8120930LCATc.936G>A (p.Glu312=)
c.156-217G>A
c.720G>A (p.Glu240=)
c.674G>A (n.674G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940292T>ACA396376028LCATc.935A>T (p.Glu312Val)
c.156-218A>T
c.719A>T (p.Glu240Val)
c.673A>T (n.673A>T)
16g.67940292T>CCA396376029LCATc.935A>G (p.Glu312Gly)
c.156-218A>G
c.719A>G (p.Glu240Gly)
c.673A>G (n.673A>G)
 gnomAD v4
16g.67940292T>GCA396376030LCATc.935A>C (p.Glu312Ala)
c.156-218A>C
c.719A>C (p.Glu240Ala)
c.673A>C (n.673A>C)
16g.67940293C>ACA396376031LCATc.934G>T (p.Glu312Ter)
c.156-219G>T
c.718G>T (p.Glu240Ter)
c.672G>T (n.672G>T)
16g.67940293C=CA2229563298LCATc.934G= (p.Glu312=)
c.156-219G=
c.718G= (p.Glu240=)
c.672G= (n.672G=)
16g.67940293C>GCA8120931LCATc.934G>C (p.Glu312Gln)
c.156-219G>C
c.718G>C (p.Glu240Gln)
c.672G>C (n.672G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940293C>TCA396376032LCATc.934G>A (p.Glu312Lys)
c.156-219G>A
c.718G>A (p.Glu240Lys)
c.672G>A (n.672G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940293_67940294delinsCACA2229563299LCATc.933_934delinsTG (p.Phe311=)
c.156-220_156-219delinsTG
c.717_718delinsTG (p.Phe239=)
c.671_672delinsTG (n.671_672delinsTG)
16g.67940294A>CCA396376033LCATc.933T>G (p.Phe311Leu)
c.156-220T>G
c.717T>G (p.Phe239Leu)
c.671T>G (n.671T>G)
16g.67940294A>GCA496384122LCATc.933T>C (p.Phe311=)
c.156-220T>C
c.717T>C (p.Phe239=)
c.671T>C (n.671T>C)
16g.67940294A>TCA396376034LCATc.933T>A (p.Phe311Leu)
c.156-220T>A
c.717T>A (p.Phe239Leu)
c.671T>A (n.671T>A)
16g.67940296delCA723097531LCATc.933del (p.Phe311LeufsTer?)
c.156-220del
c.717del (p.Phe239LeufsTer?)
c.671del (n.671del)
 dbSNP
16g.67940295A>CCA396376037LCATc.932T>G (p.Phe311Cys)
c.156-221T>G
c.716T>G (p.Phe239Cys)
c.670T>G (n.670T>G)
16g.67940295A>GCA396376036LCATc.932T>C (p.Phe311Ser)
c.156-221T>C
c.716T>C (p.Phe239Ser)
c.670T>C (n.670T>C)
16g.67940295A>TCA396376035LCATc.932T>A (p.Phe311Tyr)
c.156-221T>A
c.716T>A (p.Phe239Tyr)
c.670T>A (n.670T>A)
16g.67940296A>CCA396376038LCATc.931T>G (p.Phe311Val)
c.156-222T>G
c.715T>G (p.Phe239Val)
c.669T>G (n.669T>G)
16g.67940296A>GCA396376039LCATc.931T>C (p.Phe311Leu)
c.156-222T>C
c.715T>C (p.Phe239Leu)
c.669T>C (n.669T>C)
16g.67940296A>TCA396376040LCATc.931T>A (p.Phe311Ile)
c.156-222T>A
c.715T>A (p.Phe239Ile)
c.669T>A (n.669T>A)
16g.67940297G>ACA496384123LCATc.930C>T (p.His310=)
c.156-223C>T
c.714C>T (p.His238=)
c.668C>T (n.668C>T)
 COSMIC
16g.67940297G>CCA396376041LCATc.930C>G (p.His310Gln)
c.156-223C>G
c.714C>G (p.His238Gln)
c.668C>G (n.668C>G)
16g.67940297G>TCA396376042LCATc.930C>A (p.His310Gln)
c.156-223C>A
c.714C>A (p.His238Gln)
c.668C>A (n.668C>A)
16g.67940298T>ACA396376043LCATc.929A>T (p.His310Leu)
c.156-224A>T
c.713A>T (p.His238Leu)
c.667A>T (n.667A>T)
 gnomAD v4
16g.67940298T>CCA396376044LCATc.929A>G (p.His310Arg)
c.156-224A>G
c.713A>G (p.His238Arg)
c.667A>G (n.667A>G)
 gnomAD v4
16g.67940298T>GCA396376045LCATc.929A>C (p.His310Pro)
c.156-224A>C
c.713A>C (p.His238Pro)
c.667A>C (n.667A>C)
 dbSNP gnomAD v2 gnomAD v4
16g.67940298T=CA2229563300LCATc.929A= (p.His310=)
c.156-224A=
c.713A= (p.His238=)
c.667A= (n.667A=)
16g.67940299G>ACA396376046LCATc.928C>T (p.His310Tyr)
c.156-225C>T
c.712C>T (p.His238Tyr)
c.666C>T (n.666C>T)
 gnomAD v4
16g.67940299G>CCA396376047LCATc.928C>G (p.His310Asp)
c.156-225C>G
c.712C>G (p.His238Asp)
c.666C>G (n.666C>G)
16g.67940299G>TCA396376048LCATc.928C>A (p.His310Asn)
c.156-225C>A
c.712C>A (p.His238Asn)
c.666C>A (n.666C>A)
16g.67940300C>ACA496384124LCATc.927G>T (p.Leu309=)
c.156-226G>T
c.711G>T (p.Leu237=)
c.665G>T (n.665G>T)
16g.67940300C=CA2229563301LCATc.927G= (p.Leu309=)
c.156-226G=
c.711G= (p.Leu237=)
c.665G= (n.665G=)
16g.67940300C>GCA283160899LCATc.927G>C (p.Leu309=)
c.156-226G>C
c.711G>C (p.Leu237=)
c.665G>C (n.665G>C)
 dbSNP
16g.67940300C>TCA496384125LCATc.927G>A (p.Leu309=)
c.156-226G>A
c.711G>A (p.Leu237=)
c.665G>A (n.665G>A)
 gnomAD v4
16g.67940301A>CCA396376049LCATc.926T>G (p.Leu309Arg)
c.156-227T>G
c.710T>G (p.Leu237Arg)
c.664T>G (n.664T>G)
16g.67940301A>GCA396376050LCATc.926T>C (p.Leu309Pro)
c.156-227T>C
c.710T>C (p.Leu237Pro)
c.664T>C (n.664T>C)
 gnomAD v4
16g.67940301A>TCA396376051LCATc.926T>A (p.Leu309Gln)
c.156-227T>A
c.710T>A (p.Leu237Gln)
c.664T>A (n.664T>A)
16g.67940302G>ACA8120933LCATc.925C>T (p.Leu309=)
c.156-228C>T
c.709C>T (p.Leu237=)
c.663C>T (n.663C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940302G>CCA8120932LCATc.925C>G (p.Leu309Val)
c.156-228C>G
c.709C>G (p.Leu237Val)
c.663C>G (n.663C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940302G=CA2229563302LCATc.925C= (p.Leu309=)
c.156-228C=
c.709C= (p.Leu237=)
c.663C= (n.663C=)
16g.67940302G>TCA396376052LCATc.925C>A (p.Leu309Met)
c.156-228C>A
c.709C>A (p.Leu237Met)
c.663C>A (n.663C>A)
16g.67940303G>ACA496384126LCATc.924C>T (p.Asp308=)
c.156-229C>T
c.708C>T (p.Asp236=)
c.662C>T (n.662C>T)
16g.67940303G>CCA396376053LCATc.924C>G (p.Asp308Glu)
c.156-229C>G
c.708C>G (p.Asp236Glu)
c.662C>G (n.662C>G)
16g.67940303G>TCA396376054LCATc.924C>A (p.Asp308Glu)
c.156-229C>A
c.708C>A (p.Asp236Glu)
c.662C>A (n.662C>A)
 gnomAD v4
16g.67940304T>ACA396376055LCATc.923A>T (p.Asp308Val)
c.156-230A>T
c.707A>T (p.Asp236Val)
c.661A>T (n.661A>T)
16g.67940304T>CCA396376056LCATc.923A>G (p.Asp308Gly)
c.156-230A>G
c.707A>G (p.Asp236Gly)
c.661A>G (n.661A>G)
16g.67940304T>GCA396376057LCATc.923A>C (p.Asp308Ala)
c.156-230A>C
c.707A>C (p.Asp236Ala)
c.661A>C (n.661A>C)
16g.67940305C>ACA396376058LCATc.922G>T (p.Asp308Tyr)
c.156-231G>T
c.706G>T (p.Asp236Tyr)
c.660G>T (n.660G>T)
16g.67940305C>GCA396376059LCATc.922G>C (p.Asp308His)
c.156-231G>C
c.706G>C (p.Asp236His)
c.660G>C (n.660G>C)
16g.67940305C>TCA396376060LCATc.922G>A (p.Asp308Asn)
c.156-231G>A
c.706G>A (p.Asp236Asn)
c.660G>A (n.660G>A)
16g.67940306T>ACA496384127LCATc.921A>T (p.Ala307=)
c.156-232A>T
c.705A>T (p.Ala235=)
c.659A>T (n.659A>T)
16g.67940306T>CCA496384128LCATc.921A>G (p.Ala307=)
c.156-232A>G
c.705A>G (p.Ala235=)
c.659A>G (n.659A>G)
16g.67940306T>GCA496384129LCATc.921A>C (p.Ala307=)
c.156-232A>C
c.705A>C (p.Ala235=)
c.659A>C (n.659A>C)
16g.67940307G>ACA396376061LCATc.920C>T (p.Ala307Val)
c.156-233C>T
c.704C>T (p.Ala235Val)
c.658C>T (n.658C>T)
16g.67940307G>CCA396376062LCATc.920C>G (p.Ala307Gly)
c.156-233C>G
c.704C>G (p.Ala235Gly)
c.658C>G (n.658C>G)
16g.67940307G>TCA396376063LCATc.920C>A (p.Ala307Glu)
c.156-233C>A
c.704C>A (p.Ala235Glu)
c.658C>A (n.658C>A)
16g.67940308C>ACA396376064LCATc.919G>T (p.Ala307Ser)
c.156-234G>T
c.703G>T (p.Ala235Ser)
c.657G>T (n.657G>T)
16g.67940308C>GCA396376065LCATc.919G>C (p.Ala307Pro)
c.156-234G>C
c.703G>C (p.Ala235Pro)
c.657G>C (n.657G>C)
16g.67940308C>TCA396376066LCATc.919G>A (p.Ala307Thr)
c.156-234G>A
c.703G>A (p.Ala235Thr)
c.657G>A (n.657G>A)
16g.67940309A=CA2229563303LCATc.918T= (p.Phe306=)
c.156-235T=
c.702T= (p.Phe234=)
c.656T= (n.656T=)
16g.67940309A>CCA396376067LCATc.918T>G (p.Phe306Leu)
c.156-235T>G
c.702T>G (p.Phe234Leu)
c.656T>G (n.656T>G)
16g.67940309A>GCA496384130LCATc.918T>C (p.Phe306=)
c.156-235T>C
c.702T>C (p.Phe234=)
c.656T>C (n.656T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.67940309A>TCA396376068LCATc.918T>A (p.Phe306Leu)
c.156-235T>A
c.702T>A (p.Phe234Leu)
c.656T>A (n.656T>A)
16g.67940310A>CCA396376069LCATc.917T>G (p.Phe306Cys)
c.156-236T>G
c.701T>G (p.Phe234Cys)
c.655T>G (n.655T>G)
16g.67940310A>GCA396376070LCATc.917T>C (p.Phe306Ser)
c.156-236T>C
c.701T>C (p.Phe234Ser)
c.655T>C (n.655T>C)
16g.67940310A>TCA396376071LCATc.917T>A (p.Phe306Tyr)
c.156-236T>A
c.701T>A (p.Phe234Tyr)
c.655T>A (n.655T>A)
16g.67940311A>CCA396376072LCATc.916T>G (p.Phe306Val)
c.156-237T>G
c.700T>G (p.Phe234Val)
c.654T>G (n.654T>G)
16g.67940311A>GCA396376073LCATc.916T>C (p.Phe306Leu)
c.156-237T>C
c.700T>C (p.Phe234Leu)
c.654T>C (n.654T>C)
 gnomAD v4
16g.67940311A>TCA396376074LCATc.916T>A (p.Phe306Ile)
c.156-237T>A
c.700T>A (p.Phe234Ile)
c.654T>A (n.654T>A)
16g.67940312G>ACA496384131LCATc.915C>T (p.Phe305=)
c.156-238C>T
c.699C>T (p.Phe233=)
c.653C>T (n.653C>T)
16g.67940312G>CCA396376075LCATc.915C>G (p.Phe305Leu)
c.156-238C>G
c.699C>G (p.Phe233Leu)
c.653C>G (n.653C>G)
16g.67940312G>TCA396376076LCATc.915C>A (p.Phe305Leu)
c.156-238C>A
c.699C>A (p.Phe233Leu)
c.653C>A (n.653C>A)
16g.67940313A>CCA396376077LCATc.914T>G (p.Phe305Cys)
c.156-239T>G
c.698T>G (p.Phe233Cys)
c.652T>G (n.652T>G)
16g.67940313A>GCA396376078LCATc.914T>C (p.Phe305Ser)
c.156-239T>C
c.698T>C (p.Phe233Ser)
c.652T>C (n.652T>C)
16g.67940313A>TCA396376079LCATc.914T>A (p.Phe305Tyr)
c.156-239T>A
c.698T>A (p.Phe233Tyr)
c.652T>A (n.652T>A)
 gnomAD v4
16g.67940314A>CCA396376080LCATc.913T>G (p.Phe305Val)
c.156-240T>G
c.697T>G (p.Phe233Val)
c.651T>G (n.651T>G)
16g.67940314A>GCA396376082LCATc.913T>C (p.Phe305Leu)
c.156-240T>C
c.697T>C (p.Phe233Leu)
c.651T>C (n.651T>C)
16g.67940314A>TCA396376081LCATc.913T>A (p.Phe305Ile)
c.156-240T>A
c.697T>A (p.Phe233Ile)
c.651T>A (n.651T>A)
16g.67940315G>ACA496384132LCATc.912C>T (p.Arg304=)
c.156-241C>T
c.696C>T (p.Arg232=)
c.650C>T (n.650C>T)
 gnomAD v4
16g.67940315G>CCA496384134LCATc.912C>G (p.Arg304=)
c.156-241C>G
c.696C>G (p.Arg232=)
c.650C>G (n.650C>G)
16g.67940315G>TCA496384133LCATc.912C>A (p.Arg304=)
c.156-241C>A
c.696C>A (p.Arg232=)
c.650C>A (n.650C>A)
16g.67940316C>ACA396376083LCATc.911G>T (p.Arg304Leu)
c.156-242G>T
c.695G>T (p.Arg232Leu)
c.649G>T (n.649G>T)
16g.67940316C=CA2229563304LCATc.911G= (p.Arg304=)
c.156-242G=
c.695G= (p.Arg232=)
c.649G= (n.649G=)
16g.67940316C>GCA396376085LCATc.911G>C (p.Arg304Pro)
c.156-242G>C
c.695G>C (p.Arg232Pro)
c.649G>C (n.649G>C)
16g.67940316C>TCA396376084LCATc.911G>A (p.Arg304His)
c.156-242G>A
c.695G>A (p.Arg232His)
c.649G>A (n.649G>A)
 dbSNP gnomAD v3 gnomAD v4
16g.67940317G>ACA396376086LCATc.910C>T (p.Arg304Cys)
c.156-243C>T
c.694C>T (p.Arg232Cys)
c.648C>T (n.648C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
16g.67940317G>CCA396376087LCATc.910C>G (p.Arg304Gly)
c.156-243C>G
c.694C>G (p.Arg232Gly)
c.648C>G (n.648C>G)
16g.67940317G=CA2229563305LCATc.910C= (p.Arg304=)
c.156-243C=
c.694C= (p.Arg232=)
c.648C= (n.648C=)
16g.67940317G>TCA396376088LCATc.910C>A (p.Arg304Ser)
c.156-243C>A
c.694C>A (p.Arg232Ser)
c.648C>A (n.648C>A)
16g.67940318T>ACA396376089LCATc.909A>T (p.Gln303His)
c.156-244A>T
c.693A>T (p.Gln231His)
c.647A>T (n.647A>T)
16g.67940318T>CCA496384135LCATc.909A>G (p.Gln303=)
c.156-244A>G
c.693A>G (p.Gln231=)
c.647A>G (n.647A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940318T>GCA396376090LCATc.909A>C (p.Gln303His)
c.156-244A>C
c.693A>C (p.Gln231His)
c.647A>C (n.647A>C)
16g.67940318T=CA2229563306LCATc.909A= (p.Gln303=)
c.156-244A=
c.693A= (p.Gln231=)
c.647A= (n.647A=)
16g.67940319T>ACA396376091LCATc.908A>T (p.Gln303Leu)
c.156-245A>T
c.692A>T (p.Gln231Leu)
c.646A>T (n.646A>T)
16g.67940319T>CCA396376092LCATc.908A>G (p.Gln303Arg)
c.156-245A>G
c.692A>G (p.Gln231Arg)
c.646A>G (n.646A>G)
16g.67940319T>GCA396376093LCATc.908A>C (p.Gln303Pro)
c.156-245A>C
c.692A>C (p.Gln231Pro)
c.646A>C (n.646A>C)
16g.67940320G>ACA396376094LCATc.907C>T (p.Gln303Ter)
c.156-246C>T
c.691C>T (p.Gln231Ter)
c.645C>T (n.645C>T)
16g.67940320G>CCA396376095LCATc.907C>G (p.Gln303Glu)
c.156-246C>G
c.691C>G (p.Gln231Glu)
c.645C>G (n.645C>G)
16g.67940320G>TCA396376096LCATc.907C>A (p.Gln303Lys)
c.156-246C>A
c.691C>A (p.Gln231Lys)
c.645C>A (n.645C>A)
16g.67940321G>ACA496384136LCATc.906C>T (p.Phe302=)
c.156-247C>T
c.690C>T (p.Phe230=)
c.644C>T (n.644C>T)
16g.67940321G>CCA396376097LCATc.906C>G (p.Phe302Leu)
c.156-247C>G
c.690C>G (p.Phe230Leu)
c.644C>G (n.644C>G)
16g.67940321G>TCA396376098LCATc.906C>A (p.Phe302Leu)
c.156-247C>A
c.690C>A (p.Phe230Leu)
c.644C>A (n.644C>A)
16g.67940322A>CCA396376101LCATc.905T>G (p.Phe302Cys)
c.156-248T>G
c.689T>G (p.Phe230Cys)
c.643T>G (n.643T>G)
16g.67940322A>GCA396376100LCATc.905T>C (p.Phe302Ser)
c.156-248T>C
c.689T>C (p.Phe230Ser)
c.643T>C (n.643T>C)
16g.67940322A>TCA396376099LCATc.905T>A (p.Phe302Tyr)
c.156-248T>A
c.689T>A (p.Phe230Tyr)
c.643T>A (n.643T>A)
16g.67940323A>CCA396376102LCATc.904T>G (p.Phe302Val)
c.156-249T>G
c.688T>G (p.Phe230Val)
c.642T>G (n.642T>G)
 gnomAD v4
16g.67940323A>GCA396376103LCATc.904T>C (p.Phe302Leu)
c.156-249T>C
c.688T>C (p.Phe230Leu)
c.642T>C (n.642T>C)
16g.67940323A>TCA396376104LCATc.904T>A (p.Phe302Ile)
c.156-249T>A
c.688T>A (p.Phe230Ile)
c.642T>A (n.642T>A)
16g.67940324G>ACA8120934LCATc.903C>T (p.Asp301=)
c.156-250C>T
c.687C>T (p.Asp229=)
c.641C>T (n.641C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940324G>CCA396376105LCATc.903C>G (p.Asp301Glu)
c.156-250C>G
c.687C>G (p.Asp229Glu)
c.641C>G (n.641C>G)
16g.67940324G=CA2229563307LCATc.903C= (p.Asp301=)
c.156-250C=
c.687C= (p.Asp229=)
c.641C= (n.641C=)
16g.67940324G>TCA8120935LCATc.903C>A (p.Asp301Glu)
c.156-250C>A
c.687C>A (p.Asp229Glu)
c.641C>A (n.641C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940325T>ACA396376106LCATc.902A>T (p.Asp301Val)
c.156-251A>T
c.686A>T (p.Asp229Val)
c.640A>T (n.640A>T)
16g.67940325T>CCA396376107LCATc.902A>G (p.Asp301Gly)
c.156-251A>G
c.686A>G (p.Asp229Gly)
c.640A>G (n.640A>G)
 gnomAD v4
16g.67940325T>GCA396376108LCATc.902A>C (p.Asp301Ala)
c.156-251A>C
c.686A>C (p.Asp229Ala)
c.640A>C (n.640A>C)
16g.67940326C>ACA396376109LCATc.901G>T (p.Asp301Tyr)
c.156-252G>T
c.685G>T (p.Asp229Tyr)
c.639G>T (n.639G>T)
16g.67940326C=CA2229563308LCATc.901G= (p.Asp301=)
c.156-252G=
c.685G= (p.Asp229=)
c.639G= (n.639G=)
16g.67940326C>GCA396376110LCATc.901G>C (p.Asp301His)
c.156-252G>C
c.685G>C (p.Asp229His)
c.639G>C (n.639G>C)
16g.67940326C>TCA283160905LCATc.901G>A (p.Asp301Asn)
c.156-252G>A
c.685G>A (p.Asp229Asn)
c.639G>A (n.639G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940327A=CA2229563309LCATc.900T= (p.Arg300=)
c.156-253T=
c.684T= (p.Arg228=)
c.638T= (n.638T=)
16g.67940327A>CCA496384137LCATc.900T>G (p.Arg300=)
c.156-253T>G
c.684T>G (p.Arg228=)
c.638T>G (n.638T>G)
 gnomAD v4
16g.67940327A>GCA283160910LCATc.900T>C (p.Arg300=)
c.156-253T>C
c.684T>C (p.Arg228=)
c.638T>C (n.638T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.67940327A>TCA496384138LCATc.900T>A (p.Arg300=)
c.156-253T>A
c.684T>A (p.Arg228=)
c.638T>A (n.638T>A)
16g.67940328C>ACA396376111LCATc.899G>T (p.Arg300Leu)
c.156-254G>T
c.683G>T (p.Arg228Leu)
c.637G>T (n.637G>T)
16g.67940328C=CA2229563310LCATc.899G= (p.Arg300=)
c.156-254G=
c.683G= (p.Arg228=)
c.637G= (n.637G=)
16g.67940328C>GCA396376112LCATc.899G>C (p.Arg300Pro)
c.156-254G>C
c.683G>C (p.Arg228Pro)
c.637G>C (n.637G>C)
16g.67940328C>TCA8120936LCATc.899G>A (p.Arg300His)
c.156-254G>A
c.683G>A (p.Arg228His)
c.637G>A (n.637G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.67940329G>ACA8120937LCATc.898C>T (p.Arg300Cys)
c.156-255C>T
c.682C>T (p.Arg228Cys)
c.636C>T (n.636C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.67940329G>CCA396376113LCATc.898C>G (p.Arg300Gly)
c.156-255C>G
c.682C>G (p.Arg228Gly)
c.636C>G (n.636C>G)
16g.67940329G=CA2229563311LCATc.898C= (p.Arg300=)
c.156-255C=
c.682C= (p.Arg228=)
c.636C= (n.636C=)
16g.67940329G>TCA396376114LCATc.898C>A (p.Arg300Ser)
c.156-255C>A
c.682C>A (p.Arg228Ser)
c.636C>A (n.636C>A)
16g.67940330G>ACA496384141LCATc.897C>T (p.Gly299=)
c.156-256C>T
c.681C>T (p.Gly227=)
c.635C>T (n.635C>T)
16g.67940330G>CCA496384139LCATc.897C>G (p.Gly299=)
c.156-256C>G
c.681C>G (p.Gly227=)
c.635C>G (n.635C>G)
16g.67940330G>TCA496384140LCATc.897C>A (p.Gly299=)
c.156-256C>A
c.681C>A (p.Gly227=)
c.635C>A (n.635C>A)
16g.67940331C>ACA396376115LCATc.896G>T (p.Gly299Val)
c.156-257G>T
c.680G>T (p.Gly227Val)
c.634G>T (n.634G>T)
16g.67940331C=CA2229563312LCATc.896G= (p.Gly299=)
c.156-257G=
c.680G= (p.Gly227=)
c.634G= (n.634G=)
16g.67940331C>GCA396376116LCATc.896G>C (p.Gly299Ala)
c.156-257G>C
c.680G>C (p.Gly227Ala)
c.634G>C (n.634G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940331C>TCA396376117LCATc.896G>A (p.Gly299Asp)
c.156-257G>A
c.680G>A (p.Gly227Asp)
c.634G>A (n.634G>A)
16g.67940332C>ACA396376118LCATc.895G>T (p.Gly299Cys)
c.156-258G>T
c.679G>T (p.Gly227Cys)
c.633G>T (n.633G>T)
16g.67940332C>GCA396376119LCATc.895G>C (p.Gly299Arg)
c.156-258G>C
c.679G>C (p.Gly227Arg)
c.633G>C (n.633G>C)
16g.67940332C>TCA396376120LCATc.895G>A (p.Gly299Ser)
c.156-258G>A
c.679G>A (p.Gly227Ser)
c.633G>A (n.633G>A)
 gnomAD v4
16g.67940333T>ACA496384142LCATc.894A>T (p.Thr298=)
c.156-259A>T
c.678A>T (p.Thr226=)
c.632A>T (n.632A>T)
16g.67940333T>CCA496384143LCATc.894A>G (p.Thr298=)
c.156-259A>G
c.678A>G (p.Thr226=)
c.632A>G (n.632A>G)
16g.67940333T>GCA496384144LCATc.894A>C (p.Thr298=)
c.156-259A>C
c.678A>C (p.Thr226=)
c.632A>C (n.632A>C)
16g.67940334G>ACA396376121LCATc.893C>T (p.Thr298Ile)
c.156-260C>T
c.677C>T (p.Thr226Ile)
c.631C>T (n.631C>T)
 gnomAD v4
16g.67940334G>CCA8120938LCATc.893C>G (p.Thr298Arg)
c.156-260C>G
c.677C>G (p.Thr226Arg)
c.631C>G (n.631C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.67940334G=CA2229563313LCATc.893C= (p.Thr298=)
c.156-260C=
c.677C= (p.Thr226=)
c.631C= (n.631C=)
16g.67940334G>TCA396376122LCATc.893C>A (p.Thr298Lys)
c.156-260C>A
c.677C>A (p.Thr226Lys)
c.631C>A (n.631C>A)
 COSMIC
16g.67940335T>ACA396376125LCATc.892A>T (p.Thr298Ser)
c.156-261A>T
c.676A>T (p.Thr226Ser)
c.630A>T (n.630A>T)
16g.67940335T>CCA396376123LCATc.892A>G (p.Thr298Ala)
c.156-261A>G
c.676A>G (p.Thr226Ala)
c.630A>G (n.630A>G)
 COSMIC
16g.67940335T>GCA396376124LCATc.892A>C (p.Thr298Pro)
c.156-261A>C
c.676A>C (p.Thr226Pro)
c.630A>C (n.630A>C)
16g.67940336G>ACA283160935LCATc.891C>T (p.Tyr297=)
c.156-262C>T
c.675C>T (p.Tyr225=)
c.629C>T (n.629C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.67940336G>CCA396376126LCATc.891C>G (p.Tyr297Ter)
c.156-262C>G
c.675C>G (p.Tyr225Ter)
c.629C>G (n.629C>G)
16g.67940336G=CA2229563314LCATc.891C= (p.Tyr297=)
c.156-262C=
c.675C= (p.Tyr225=)
c.629C= (n.629C=)
16g.67940336G>TCA396376127LCATc.891C>A (p.Tyr297Ter)
c.156-262C>A
c.675C>A (p.Tyr225Ter)
c.629C>A (n.629C>A)
16g.67940337T>ACA396376128LCATc.890A>T (p.Tyr297Phe)
c.156-263A>T
c.674A>T (p.Tyr225Phe)
c.628A>T (n.628A>T)
16g.67940337T>CCA396376129LCATc.890A>G (p.Tyr297Cys)
c.156-263A>G
c.674A>G (p.Tyr225Cys)
c.628A>G (n.628A>G)
16g.67940337T>GCA396376130LCATc.890A>C (p.Tyr297Ser)
c.156-263A>C
c.674A>C (p.Tyr225Ser)
c.628A>C (n.628A>C)
16g.67940338A>CCA396376131LCATc.889T>G (p.Tyr297Asp)
c.156-264T>G
c.673T>G (p.Tyr225Asp)
c.627T>G (n.627T>G)
16g.67940338A>GCA396376132LCATc.889T>C (p.Tyr297His)
c.156-264T>C
c.673T>C (p.Tyr225His)
c.627T>C (n.627T>C)
16g.67940338A>TCA396376133LCATc.889T>A (p.Tyr297Asn)
c.156-264T>A
c.673T>A (p.Tyr225Asn)
c.627T>A (n.627T>A)
16g.67940339G>ACA496384145LCATc.888C>T (p.Asn296=)
c.156-265C>T
c.672C>T (p.Asn224=)
c.626C>T (n.626C>T)
 gnomAD v4
16g.67940339G>CCA396376134LCATc.888C>G (p.Asn296Lys)
c.156-265C>G
c.672C>G (p.Asn224Lys)
c.626C>G (n.626C>G)
16g.67940339G>TCA396376135LCATc.888C>A (p.Asn296Lys)
c.156-265C>A
c.672C>A (p.Asn224Lys)
c.626C>A (n.626C>A)
16g.67940340T>ACA396376138LCATc.887A>T (p.Asn296Ile)
c.156-266A>T
c.671A>T (p.Asn224Ile)
c.625A>T (n.625A>T)
16g.67940340T>CCA396376137LCATc.887A>G (p.Asn296Ser)
c.156-266A>G
c.671A>G (p.Asn224Ser)
c.625A>G (n.625A>G)
16g.67940340T>GCA396376136LCATc.887A>C (p.Asn296Thr)
c.156-266A>C
c.671A>C (p.Asn224Thr)
c.625A>C (n.625A>C)
16g.67940341T>ACA396376139LCATc.886A>T (p.Asn296Tyr)
c.156-267A>T
c.670A>T (p.Asn224Tyr)
c.624A>T (n.624A>T)
16g.67940341T>CCA396376141LCATc.886A>G (p.Asn296Asp)
c.156-267A>G
c.670A>G (p.Asn224Asp)
c.624A>G (n.624A>G)
 gnomAD v4
16g.67940341T>GCA396376140LCATc.886A>C (p.Asn296His)
c.156-267A>C
c.670A>C (p.Asn224His)
c.624A>C (n.624A>C)
16g.67940342G>ACA496384146LCATc.885C>T (p.Phe295=)
c.156-268C>T
c.669C>T (p.Phe223=)
c.623C>T (n.623C>T)
 COSMIC
16g.67940342G>CCA396376142LCATc.885C>G (p.Phe295Leu)
c.156-268C>G
c.669C>G (p.Phe223Leu)
c.623C>G (n.623C>G)
 COSMIC
16g.67940342G=CA2229563315LCATc.885C= (p.Phe295=)
c.156-268C=
c.669C= (p.Phe223=)
c.623C= (n.623C=)
16g.67940342G>TCA396376143LCATc.885C>A (p.Phe295Leu)
c.156-268C>A
c.669C>A (p.Phe223Leu)
c.623C>A (n.623C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.67940343A>CCA396376144LCATc.884T>G (p.Phe295Cys)
c.156-269T>G
c.668T>G (p.Phe223Cys)
c.622T>G (n.622T>G)
16g.67940343A>GCA396376145LCATc.884T>C (p.Phe295Ser)
c.156-269T>C
c.668T>C (p.Phe223Ser)
c.622T>C (n.622T>C)
16g.67940343A>TCA396376146LCATc.884T>A (p.Phe295Tyr)
c.156-269T>A
c.668T>A (p.Phe223Tyr)
c.622T>A (n.622T>A)
16g.67940344A>CCA396376147LCATc.883T>G (p.Phe295Val)
c.156-270T>G
c.667T>G (p.Phe223Val)
c.621T>G (n.621T>G)
16g.67940344A>GCA396376148LCATc.883T>C (p.Phe295Leu)
c.156-270T>C
c.667T>C (p.Phe223Leu)
c.621T>C (n.621T>C)
 gnomAD v4
16g.67940344A>TCA396376149LCATc.883T>A (p.Phe295Ile)
c.156-270T>A
c.667T>A (p.Phe223Ile)
c.621T>A (n.621T>A)
16g.67940345G>ACA496384147LCATc.882C>T (p.Ser294=)
c.156-271C>T
c.666C>T (p.Ser222=)
c.620C>T (n.620C>T)
16g.67940345G>CCA396376150LCATc.882C>G (p.Ser294Arg)
c.156-271C>G
c.666C>G (p.Ser222Arg)
c.620C>G (n.620C>G)
16g.67940345G>TCA396376151LCATc.882C>A (p.Ser294Arg)
c.156-271C>A
c.666C>A (p.Ser222Arg)
c.620C>A (n.620C>A)
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

Number of alleles fetched