Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.17793631G>ACA398545991RAI1c.683G>A (p.Gly228Asp)
c.618G>A (p.Gly206=)
17g.17793631G>CCA398545992RAI1c.683G>C (p.Gly228Ala)
c.618G>C (p.Gly206=)
17g.17793631G>TCA398545993RAI1c.683G>T (p.Gly228Val)
c.618G>T (p.Gly206=)
gnomAD v4
17g.17793632T>ACA498422605RAI1c.684T>A (p.Gly228=)
c.619T>A (p.Trp207Arg)
17g.17793632T>CCA498422608RAI1c.684T>C (p.Gly228=)
c.619T>C (p.Trp207Arg)
17g.17793632T>GCA498422606RAI1c.684T>G (p.Gly228=)
c.619T>G (p.Trp207Gly)
17g.17793633G>ACA398545996RAI1c.685G>A (p.Gly229Ser)
c.620G>A (p.Trp207Ter)
gnomAD v4
17g.17793633G>CCA398545995RAI1c.685G>C (p.Gly229Arg)
c.620G>C (p.Trp207Ser)
17g.17793633G=CA2250666524RAI1c.685G= (p.Gly229=)
c.620G= (p.Trp207=)
17g.17793633G>TCA398545994RAI1c.685G>T (p.Gly229Cys)
c.620G>T (p.Trp207Leu)
dbSNP gnomAD v3 gnomAD v4
17g.17793634G>ACA398545997RAI1c.686G>A (p.Gly229Asp)
c.621G>A (p.Trp207Ter)
gnomAD v4
17g.17793634G>CCA398545998RAI1c.686G>C (p.Gly229Ala)
c.621G>C (p.Trp207Cys)
17g.17793634G=CA2250666531RAI1c.686G= (p.Gly229=)
c.621G= (p.Trp207=)
17g.17793634G>TCA8418169RAI1c.686G>T (p.Gly229Val)
c.621G>T (p.Trp207Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793635T>ACA498422610RAI1c.687T>A (p.Gly229=)
c.622T>A (p.Trp208Arg)
17g.17793635T>CCA498422611RAI1c.687T>C (p.Gly229=)
c.622T>C (p.Trp208Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4
17g.17793635T>GCA498422612RAI1c.687T>G (p.Gly229=)
c.622T>G (p.Trp208Gly)
17g.17793635T=CA2250666534RAI1c.687T= (p.Gly229=)
c.622T= (p.Trp208=)
17g.17793636G>ACA8418170RAI1c.688G>A (p.Gly230Arg)
c.623G>A (p.Trp208Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793636G>CCA398545999RAI1c.688G>C (p.Gly230Arg)
c.623G>C (p.Trp208Ser)
17g.17793636G=CA2250666536RAI1c.688G= (p.Gly230=)
c.623G= (p.Trp208=)
17g.17793636G>TCA398546000RAI1c.688G>T (p.Gly230Trp)
c.623G>T (p.Trp208Leu)
17g.17793637G>ACA398546001RAI1c.689G>A (p.Gly230Glu)
c.624G>A (p.Trp208Ter)
dbSNP gnomAD v2 gnomAD v4
17g.17793637G>CCA398546002RAI1c.689G>C (p.Gly230Ala)
c.624G>C (p.Trp208Cys)
17g.17793637G=CA2250666539RAI1c.689G= (p.Gly230=)
c.624G= (p.Trp208=)
17g.17793637G>TCA398546003RAI1c.689G>T (p.Gly230Val)
c.624G>T (p.Trp208Cys)
17g.17793638G>ACA498422616RAI1c.690G>A (p.Gly230=)
c.625G>A (p.Ala209Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793638G>CCA498422617RAI1c.690G>C (p.Gly230=)
c.625G>C (p.Ala209Pro)
17g.17793638G=CA2250666543RAI1c.690G= (p.Gly230=)
c.625G= (p.Ala209=)
17g.17793638G>TCA498422618RAI1c.690G>T (p.Gly230=)
c.625G>T (p.Ala209Ser)
dbSNP gnomAD v3 gnomAD v4
17g.17793639C>ACA398546004RAI1c.691C>A (p.Gln231Lys)
c.626C>A (p.Ala209Glu)
17g.17793639C>GCA398546005RAI1c.691C>G (p.Gln231Glu)
c.626C>G (p.Ala209Gly)
17g.17793639C>TCA398546006RAI1c.691C>T (p.Gln231Ter)
c.626C>T (p.Ala209Val)
17g.17793640A>CCA398546009RAI1c.692A>C (p.Gln231Pro)
c.627A>C (p.Ala209=)
17g.17793640A>GCA398546007RAI1c.692A>G (p.Gln231Arg)
c.627A>G (p.Ala209=)
gnomAD v4
17g.17793640A>TCA398546008RAI1c.692A>T (p.Gln231Leu)
c.627A>T (p.Ala209=)
17g.17793641G>ACA498422623RAI1c.693G>A (p.Gln231=)
c.628G>A (p.Gly210Arg)
17g.17793641G>CCA398546010RAI1c.693G>C (p.Gln231His)
c.628G>C (p.Gly210Arg)
17g.17793641G>TCA398546011RAI1c.693G>T (p.Gln231His)
c.628G>T (p.Gly210Trp)
gnomAD v4
17g.17793642G>ACA398546012RAI1c.694G>A (p.Gly232Arg)
c.629G>A (p.Gly210Glu)
dbSNP gnomAD v2 gnomAD v4
17g.17793642G>CCA398546013RAI1c.694G>C (p.Gly232Arg)
c.629G>C (p.Gly210Ala)
17g.17793642G=CA2250666547RAI1c.694G= (p.Gly232=)
c.629G= (p.Gly210=)
17g.17793642G>TCA398546014RAI1c.694G>T (p.Gly232Trp)
c.629G>T (p.Gly210Val)
17g.17793643G>ACA398546015RAI1c.695G>A (p.Gly232Glu)
c.630G>A (p.Gly210=)
dbSNP gnomAD v2 gnomAD v4
17g.17793643G>CCA398546016RAI1c.695G>C (p.Gly232Ala)
c.630G>C (p.Gly210=)
17g.17793643G=CA2250666552RAI1c.695G= (p.Gly232=)
c.630G= (p.Gly210=)
17g.17793643G>TCA398546017RAI1c.695G>T (p.Gly232Val)
c.630G>T (p.Gly210=)
17g.17793644G>ACA498422626RAI1c.696G>A (p.Gly232=)
c.631G>A (p.Gly211Ser)
17g.17793644G>CCA498422628RAI1c.696G>C (p.Gly232=)
c.631G>C (p.Gly211Arg)
17g.17793644G>TCA498422630RAI1c.696G>T (p.Gly232=)
c.631G>T (p.Gly211Cys)
17g.17793645G>ACA8418171RAI1c.697G>A (p.Ala233Thr)
c.632G>A (p.Gly211Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793645G>CCA398546018RAI1c.697G>C (p.Ala233Pro)
c.632G>C (p.Gly211Ala)
gnomAD v4
17g.17793645G=CA2250666560RAI1c.697G= (p.Ala233=)
c.632G= (p.Gly211=)
17g.17793645G>TCA398546019RAI1c.697G>T (p.Ala233Ser)
c.632G>T (p.Gly211Val)
17g.17793645_17793646delinsGCCA2250666558RAI1c.697_698delinsGC (p.Ala233=)
c.632_633delinsGC (p.Gly211=)
17g.17793646C>ACA398546021RAI1c.698C>A (p.Ala233Asp)
c.633C>A (p.Gly211=)
17g.17793646C>GCA398546022RAI1c.698C>G (p.Ala233Gly)
c.633C>G (p.Gly211=)
17g.17793646C>TCA398546020RAI1c.698C>T (p.Ala233Val)
c.633C>T (p.Gly211=)
gnomAD v4
17g.17793648delCA288367202RAI1c.700del (p.His234ThrfsTer18)
c.634del
dbSNP
17g.17793647C>ACA498422632RAI1c.699C>A (p.Ala233=)
c.634-1C>A (n.634-1C>A)
17g.17793647C>GCA498422634RAI1c.699C>G (p.Ala233=)
c.634-1C>G (n.634-1C>G)
17g.17793647C>TCA498422635RAI1c.699C>T (p.Ala233=)
c.634-1C>T (n.634-1C>T)
17g.17793648C>ACA398546025RAI1c.700C>A (p.His234Asn)
c.634C>A (p.His212Asn)
17g.17793648C>GCA398546023RAI1c.700C>G (p.His234Asp)
c.634C>G (p.His212Asp)
gnomAD v4
17g.17793648C>TCA398546024RAI1c.700C>T (p.His234Tyr)
c.634C>T (p.His212Tyr)
17g.17793649A=CA2250666565RAI1c.701A= (p.His234=)
c.635A= (p.His212=)
17g.17793649A>CCA398546026RAI1c.701A>C (p.His234Pro)
c.635A>C (p.His212Pro)
17g.17793649A>GCA8418172RAI1c.701A>G (p.His234Arg)
c.635A>G (p.His212Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793649A>TCA398546027RAI1c.701A>T (p.His234Leu)
c.635A>T (p.His212Leu)
17g.17793650C>ACA398546028RAI1c.702C>A (p.His234Gln)
c.636C>A (p.His212Gln)
17g.17793650C>GCA398546029RAI1c.702C>G (p.His234Gln)
c.636C>G (p.His212Gln)
17g.17793650C>TCA498422636RAI1c.702C>T (p.His234=)
c.636C>T (p.His212=)
17g.17793651T>ACA398546030RAI1c.703T>A (p.Ser235Thr)
c.637T>A (p.Ser213Thr)
17g.17793651T>CCA398546031RAI1c.703T>C (p.Ser235Pro)
c.637T>C (p.Ser213Pro)
17g.17793651T>GCA398546032RAI1c.703T>G (p.Ser235Ala)
c.637T>G (p.Ser213Ala)
17g.17793652C>ACA398546033RAI1c.704C>A (p.Ser235Tyr)
c.638C>A (p.Ser213Tyr)
17g.17793652C=CA2250666572RAI1c.704C= (p.Ser235=)
c.638C= (p.Ser213=)
17g.17793652C>GCA398546034RAI1c.704C>G (p.Ser235Cys)
c.638C>G (p.Ser213Cys)
dbSNP gnomAD v2 gnomAD v4
17g.17793652C>TCA398546035RAI1c.704C>T (p.Ser235Phe)
c.638C>T (p.Ser213Phe)
17g.17793653C>ACA498422643RAI1c.705C>A (p.Ser235=)
c.639C>A (p.Ser213=)
17g.17793653C>GCA498422645RAI1c.705C>G (p.Ser235=)
c.639C>G (p.Ser213=)
17g.17793653C>TCA498422647RAI1c.705C>T (p.Ser235=)
c.639C>T (p.Ser213=)
ClinVar gnomAD v4 COSMIC COSMIC
17g.17793654T>ACA398546036RAI1c.706T>A (p.Tyr236Asn)
c.640T>A (p.Tyr214Asn)
17g.17793654T>CCA398546038RAI1c.706T>C (p.Tyr236His)
c.640T>C (p.Tyr214His)
17g.17793654T>GCA398546037RAI1c.706T>G (p.Tyr236Asp)
c.640T>G (p.Tyr214Asp)
17g.17793655A=CA2250666578RAI1c.707A= (p.Tyr236=)
c.641A= (p.Tyr214=)
17g.17793655A>CCA398546039RAI1c.707A>C (p.Tyr236Ser)
c.641A>C (p.Tyr214Ser)
ClinVar dbSNP
17g.17793655A>GCA398546040RAI1c.707A>G (p.Tyr236Cys)
c.641A>G (p.Tyr214Cys)
ClinVar dbSNP gnomAD v4
17g.17793655A>TCA8418173RAI1c.707A>T (p.Tyr236Phe)
c.641A>T (p.Tyr214Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793656T>ACA398546041RAI1c.708T>A (p.Tyr236Ter)
c.642T>A (p.Tyr214Ter)
17g.17793656T>CCA498422650RAI1c.708T>C (p.Tyr236=)
c.642T>C (p.Tyr214=)
gnomAD v4
17g.17793656T>GCA398546042RAI1c.708T>G (p.Tyr236Ter)
c.642T>G (p.Tyr214Ter)
17g.17793657A>CCA398546043RAI1c.709A>C (p.Lys237Gln)
c.643A>C (p.Lys215Gln)
17g.17793657A>GCA398546044RAI1c.709A>G (p.Lys237Glu)
c.643A>G (p.Lys215Glu)
17g.17793657A>TCA398546045RAI1c.709A>T (p.Lys237Ter)
c.643A>T (p.Lys215Ter)
17g.17793658A>CCA398546046RAI1c.710A>C (p.Lys237Thr)
c.644A>C (p.Lys215Thr)
17g.17793658A>GCA398546047RAI1c.710A>G (p.Lys237Arg)
c.644A>G (p.Lys215Arg)
17g.17793658A>TCA398546048RAI1c.710A>T (p.Lys237Met)
c.644A>T (p.Lys215Met)
17g.17793659G>ACA498422654RAI1c.711G>A (p.Lys237=)
c.645G>A (p.Lys215=)
17g.17793659G>CCA398546050RAI1c.711G>C (p.Lys237Asn)
c.645G>C (p.Lys215Asn)
17g.17793659G>TCA398546049RAI1c.711G>T (p.Lys237Asn)
c.645G>T (p.Lys215Asn)
gnomAD v4
17g.17793660A>CCA398546051RAI1c.712A>C (p.Ser238Arg)
c.646A>C (p.Ser216Arg)
17g.17793660A>GCA398546052RAI1c.712A>G (p.Ser238Gly)
c.646A>G (p.Ser216Gly)
17g.17793660A>TCA398546053RAI1c.712A>T (p.Ser238Cys)
c.646A>T (p.Ser216Cys)
17g.17793661G>ACA398546054RAI1c.713G>A (p.Ser238Asn)
c.647G>A (p.Ser216Asn)
gnomAD v4
17g.17793661G>CCA398546055RAI1c.713G>C (p.Ser238Thr)
c.647G>C (p.Ser216Thr)
17g.17793661G>TCA398546056RAI1c.713G>T (p.Ser238Ile)
c.647G>T (p.Ser216Ile)
17g.17793662T>ACA398546057RAI1c.714T>A (p.Ser238Arg)
c.648T>A (p.Ser216Arg)
17g.17793662T>CCA498422658RAI1c.714T>C (p.Ser238=)
c.648T>C (p.Ser216=)
dbSNP
17g.17793662T>GCA398546058RAI1c.714T>G (p.Ser238Arg)
c.648T>G (p.Ser216Arg)
17g.17793662T=CA2250666587RAI1c.714T= (p.Ser238=)
c.648T= (p.Ser216=)
17g.17793663T>ACA398546059RAI1c.715T>A (p.Cys239Ser)
c.649T>A (p.Cys217Ser)
gnomAD v4
17g.17793663T>CCA398546060RAI1c.715T>C (p.Cys239Arg)
c.649T>C (p.Cys217Arg)
17g.17793663T>GCA398546061RAI1c.715T>G (p.Cys239Gly)
c.649T>G (p.Cys217Gly)
17g.17793664G>ACA398546062RAI1c.716G>A (p.Cys239Tyr)
c.650G>A (p.Cys217Tyr)
ClinVar
17g.17793664G>CCA398546063RAI1c.716G>C (p.Cys239Ser)
c.650G>C (p.Cys217Ser)
17g.17793664G=CA2250666591RAI1c.716G= (p.Cys239=)
c.650G= (p.Cys217=)
17g.17793664G>TCA288367208RAI1c.716G>T (p.Cys239Phe)
c.650G>T (p.Cys217Phe)
dbSNP gnomAD v4
17g.17793665C>ACA398546065RAI1c.717C>A (p.Cys239Ter)
c.651C>A (p.Cys217Ter)
17g.17793665C>GCA398546064RAI1c.717C>G (p.Cys239Trp)
c.651C>G (p.Cys217Trp)
17g.17793665C>TCA498422664RAI1c.717C>T (p.Cys239=)
c.651C>T (p.Cys217=)
17g.17793666A>CCA398546066RAI1c.718A>C (p.Thr240Pro)
c.652A>C (p.Thr218Pro)
17g.17793666A>GCA398546067RAI1c.718A>G (p.Thr240Ala)
c.652A>G (p.Thr218Ala)
17g.17793666A>TCA398546068RAI1c.718A>T (p.Thr240Ser)
c.652A>T (p.Thr218Ser)
17g.17793667C>ACA398546069RAI1c.719C>A (p.Thr240Lys)
c.653C>A (p.Thr218Lys)
17g.17793667C=CA2250666596RAI1c.719C= (p.Thr240=)
c.653C= (p.Thr218=)
17g.17793667C>GCA398546070RAI1c.719C>G (p.Thr240Arg)
c.653C>G (p.Thr218Arg)
17g.17793667C>TCA180358RAI1c.719C>T (p.Thr240Ile)
c.653C>T (p.Thr218Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793668A=CA2250666605RAI1c.720A= (p.Thr240=)
c.654A= (p.Thr218=)
17g.17793668A>CCA498422668RAI1c.720A>C (p.Thr240=)
c.654A>C (p.Thr218=)
17g.17793668A>GCA288367213RAI1c.720A>G (p.Thr240=)
c.654A>G (p.Thr218=)
dbSNP gnomAD v4
17g.17793668A>TCA498422669RAI1c.720A>T (p.Thr240=)
c.654A>T (p.Thr218=)
17g.17793669G>ACA398546071RAI1c.721G>A (p.Ala241Thr)
c.655G>A (p.Ala219Thr)
17g.17793669G>CCA398546072RAI1c.721G>C (p.Ala241Pro)
c.655G>C (p.Ala219Pro)
17g.17793669G>TCA398546073RAI1c.721G>T (p.Ala241Ser)
c.655G>T (p.Ala219Ser)
17g.17793670C>ACA398546074RAI1c.722C>A (p.Ala241Glu)
c.656C>A (p.Ala219Glu)
17g.17793670C>GCA398546075RAI1c.722C>G (p.Ala241Gly)
c.656C>G (p.Ala219Gly)
17g.17793670C>TCA398546076RAI1c.722C>T (p.Ala241Val)
c.656C>T (p.Ala219Val)
17g.17793671A>CCA498422673RAI1c.723A>C (p.Ala241=)
c.657A>C (p.Ala219=)
17g.17793671A>GCA498422674RAI1c.723A>G (p.Ala241=)
c.657A>G (p.Ala219=)
17g.17793671A>TCA498422675RAI1c.723A>T (p.Ala241=)
c.657A>T (p.Ala219=)
17g.17793671_17793685delinsACCGACTGCCCAGCCCA2250666611RAI1c.723_737delinsACCGACTGCCCAGCC (p.Ala241=)
c.657_671delinsACCGACTGCCCAGCC (p.Ala219=)
17g.17793672C>ACA398546077RAI1c.724C>A (p.Pro242Thr)
c.658C>A (p.Pro220Thr)
17g.17793672C=CA2250666621RAI1c.724C= (p.Pro242=)
c.658C= (p.Pro220=)
17g.17793672C>GCA398546078RAI1c.724C>G (p.Pro242Ala)
c.658C>G (p.Pro220Ala)
17g.17793672C>TCA8418175RAI1c.724C>T (p.Pro242Ser)
c.658C>T (p.Pro220Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674_17793687delCA8418174RAI1c.726_739del (p.Thr243Ter)
c.660_673del (p.Thr221Ter)
dbSNP ExAC gnomAD v2
17g.17793673C>ACA398546080RAI1c.725C>A (p.Pro242Gln)
c.659C>A (p.Pro220Gln)
17g.17793673C=CA2250666629RAI1c.725C= (p.Pro242=)
c.659C= (p.Pro220=)
17g.17793673C>GCA398546079RAI1c.725C>G (p.Pro242Arg)
c.659C>G (p.Pro220Arg)
17g.17793673C>TCA149347RAI1c.725C>T (p.Pro242Leu)
c.659C>T (p.Pro220Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674G>ACA8418176RAI1c.726G>A (p.Pro242=)
c.660G>A (p.Pro220=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793674G>CCA498422679RAI1c.726G>C (p.Pro242=)
c.660G>C (p.Pro220=)
17g.17793674G=CA2250666639RAI1c.726G= (p.Pro242=)
c.660G= (p.Pro220=)
17g.17793674G>TCA498422681RAI1c.726G>T (p.Pro242=)
c.660G>T (p.Pro220=)
17g.17793675A>CCA398546081RAI1c.727A>C (p.Thr243Pro)
c.661A>C (p.Thr221Pro)
17g.17793675A>GCA398546082RAI1c.727A>G (p.Thr243Ala)
c.661A>G (p.Thr221Ala)
17g.17793675A>TCA398546083RAI1c.727A>T (p.Thr243Ser)
c.661A>T (p.Thr221Ser)
17g.17793676C>ACA398546084RAI1c.728C>A (p.Thr243Asn)
c.662C>A (p.Thr221Asn)
gnomAD v4
17g.17793676C>GCA398546085RAI1c.728C>G (p.Thr243Ser)
c.662C>G (p.Thr221Ser)
17g.17793676C>TCA398546086RAI1c.728C>T (p.Thr243Ile)
c.662C>T (p.Thr221Ile)
17g.17793677T>ACA498422687RAI1c.729T>A (p.Thr243=)
c.663T>A (p.Thr221=)
17g.17793677T>CCA498422689RAI1c.729T>C (p.Thr243=)
c.663T>C (p.Thr221=)
17g.17793677T>GCA498422691RAI1c.729T>G (p.Thr243=)
c.663T>G (p.Thr221=)
17g.17793678G>ACA398546087RAI1c.730G>A (p.Ala244Thr)
c.664G>A (p.Ala222Thr)
17g.17793678G>CCA398546088RAI1c.730G>C (p.Ala244Pro)
c.664G>C (p.Ala222Pro)
17g.17793678G>TCA398546089RAI1c.730G>T (p.Ala244Ser)
c.664G>T (p.Ala222Ser)
17g.17793679C>ACA398546090RAI1c.731C>A (p.Ala244Asp)
c.665C>A (p.Ala222Asp)
ClinVar
17g.17793679C>GCA398546091RAI1c.731C>G (p.Ala244Gly)
c.665C>G (p.Ala222Gly)
17g.17793679C>TCA398546092RAI1c.731C>T (p.Ala244Val)
c.665C>T (p.Ala222Val)
gnomAD v4
17g.17793680C>ACA498422694RAI1c.732C>A (p.Ala244=)
c.666C>A (p.Ala222=)
17g.17793680C=CA2250666644RAI1c.732C= (p.Ala244=)
c.666C= (p.Ala222=)
17g.17793680C>GCA498422695RAI1c.732C>G (p.Ala244=)
c.666C>G (p.Ala222=)
17g.17793680C>TCA498422696RAI1c.732C>T (p.Ala244=)
c.666C>T (p.Ala222=)
dbSNP gnomAD v2 gnomAD v4
17g.17793681C>ACA398546095RAI1c.733C>A (p.Gln245Lys)
c.667C>A (p.Gln223Lys)
17g.17793681C>GCA398546093RAI1c.733C>G (p.Gln245Glu)
c.667C>G (p.Gln223Glu)
17g.17793681C>TCA398546094RAI1c.733C>T (p.Gln245Ter)
c.667C>T (p.Gln223Ter)
17g.17793682A>CCA398546096RAI1c.734A>C (p.Gln245Pro)
c.668A>C (p.Gln223Pro)
17g.17793682A>GCA398546097RAI1c.734A>G (p.Gln245Arg)
c.668A>G (p.Gln223Arg)
ClinVar
17g.17793682A>TCA398546098RAI1c.734A>T (p.Gln245Leu)
c.668A>T (p.Gln223Leu)
17g.17793683G>ACA498422704RAI1c.735G>A (p.Gln245=)
c.669G>A (p.Gln223=)
gnomAD v4
17g.17793683G>CCA398546099RAI1c.735G>C (p.Gln245His)
c.669G>C (p.Gln223His)
17g.17793683G>TCA398546100RAI1c.735G>T (p.Gln245His)
c.669G>T (p.Gln223His)
17g.17793684C>ACA398546101RAI1c.736C>A (p.Pro246Thr)
c.670C>A (p.Pro224Thr)
17g.17793684C>GCA398546102RAI1c.736C>G (p.Pro246Ala)
c.670C>G (p.Pro224Ala)
17g.17793684C>TCA398546103RAI1c.736C>T (p.Pro246Ser)
c.670C>T (p.Pro224Ser)
ClinVar dbSNP
17g.17793685C>ACA398546104RAI1c.737C>A (p.Pro246His)
c.671C>A (p.Pro224His)
gnomAD v4
17g.17793685C>GCA398546105RAI1c.737C>G (p.Pro246Arg)
c.671C>G (p.Pro224Arg)
gnomAD v4
17g.17793685C>TCA398546106RAI1c.737C>T (p.Pro246Leu)
c.671C>T (p.Pro224Leu)
ClinVar
17g.17793686C>ACA498422716RAI1c.738C>A (p.Pro246=)
c.672C>A (p.Pro224=)
ClinVar
17g.17793686C>GCA498422719RAI1c.738C>G (p.Pro246=)
c.672C>G (p.Pro224=)
17g.17793686C>TCA498422721RAI1c.738C>T (p.Pro246=)
c.672C>T (p.Pro224=)
17g.17793687C>ACA398546109RAI1c.739C>A (p.His247Asn)
c.673C>A (p.His225Asn)
17g.17793687C>GCA398546108RAI1c.739C>G (p.His247Asp)
c.673C>G (p.His225Asp)
17g.17793687C>TCA398546107RAI1c.739C>T (p.His247Tyr)
c.673C>T (p.His225Tyr)
17g.17793688A=CA2250666653RAI1c.740A= (p.His247=)
c.674A= (p.His225=)
17g.17793688A>CCA398546110RAI1c.740A>C (p.His247Pro)
c.674A>C (p.His225Pro)
ClinVar dbSNP
17g.17793688A>GCA398546111RAI1c.740A>G (p.His247Arg)
c.674A>G (p.His225Arg)
gnomAD v4
17g.17793688A>TCA398546112RAI1c.740A>T (p.His247Leu)
c.674A>T (p.His225Leu)
17g.17793689T>ACA398546113RAI1c.741T>A (p.His247Gln)
c.675T>A (p.His225Gln)
17g.17793689T>CCA288367223RAI1c.741T>C (p.His247=)
c.675T>C (p.His225=)
dbSNP gnomAD v4
17g.17793689T>GCA398546114RAI1c.741T>G (p.His247Gln)
c.675T>G (p.His225Gln)
gnomAD v4
17g.17793689T=CA2250666657RAI1c.741T= (p.His247=)
c.675T= (p.His225=)
17g.17793690G>ACA8418177RAI1c.742G>A (p.Asp248Asn)
c.676G>A (p.Asp226Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793690G>CCA398546115RAI1c.742G>C (p.Asp248His)
c.676G>C (p.Asp226His)
17g.17793690G=CA2250666662RAI1c.742G= (p.Asp248=)
c.676G= (p.Asp226=)
17g.17793690G>TCA398546116RAI1c.742G>T (p.Asp248Tyr)
c.676G>T (p.Asp226Tyr)
17g.17793691A=CA2250666666RAI1c.743A= (p.Asp248=)
c.677A= (p.Asp226=)
17g.17793691A>CCA398546117RAI1c.743A>C (p.Asp248Ala)
c.677A>C (p.Asp226Ala)
17g.17793691A>GCA398546118RAI1c.743A>G (p.Asp248Gly)
c.677A>G (p.Asp226Gly)
dbSNP gnomAD v4
17g.17793691A>TCA398546119RAI1c.743A>T (p.Asp248Val)
c.677A>T (p.Asp226Val)
17g.17793692C>ACA398546120RAI1c.744C>A (p.Asp248Glu)
c.678C>A (p.Asp226Glu)
17g.17793692C=CA2250666671RAI1c.744C= (p.Asp248=)
c.678C= (p.Asp226=)
17g.17793692C>GCA398546121RAI1c.744C>G (p.Asp248Glu)
c.678C>G (p.Asp226Glu)
gnomAD v4
17g.17793692C>TCA498422727RAI1c.744C>T (p.Asp248=)
c.678C>T (p.Asp226=)
dbSNP gnomAD v2 gnomAD v4
17g.17793693A>CCA498422730RAI1c.745A>C (p.Arg249=)
c.679A>C (p.Arg227=)
17g.17793693A>GCA398546123RAI1c.745A>G (p.Arg249Gly)
c.679A>G (p.Arg227Gly)
17g.17793693A>TCA398546122RAI1c.745A>T (p.Arg249Trp)
c.679A>T (p.Arg227Trp)
17g.17793694G>ACA398546124RAI1c.746G>A (p.Arg249Lys)
c.680G>A (p.Arg227Lys)
17g.17793694G>CCA398546125RAI1c.746G>C (p.Arg249Thr)
c.680G>C (p.Arg227Thr)
17g.17793694G>TCA398546126RAI1c.746G>T (p.Arg249Met)
c.680G>T (p.Arg227Met)
gnomAD v4
17g.17793695G>ACA498422732RAI1c.747G>A (p.Arg249=)
c.681G>A (p.Arg227=)
dbSNP gnomAD v4
17g.17793695G>CCA398546127RAI1c.747G>C (p.Arg249Ser)
c.681G>C (p.Arg227Ser)
17g.17793695G=CA2250666674RAI1c.747G= (p.Arg249=)
c.681G= (p.Arg227=)
17g.17793695G>TCA398546128RAI1c.747G>T (p.Arg249Ser)
c.681G>T (p.Arg227Ser)
17g.17793696C>ACA398546129RAI1c.748C>A (p.Pro250Thr)
c.682C>A (p.Pro228Thr)
17g.17793696C=CA2250666677RAI1c.748C= (p.Pro250=)
c.682C= (p.Pro228=)
17g.17793696C>GCA288367224RAI1c.748C>G (p.Pro250Ala)
c.682C>G (p.Pro228Ala)
ClinVar dbSNP gnomAD v3 gnomAD v4
17g.17793696C>TCA398546130RAI1c.748C>T (p.Pro250Ser)
c.682C>T (p.Pro228Ser)
17g.17793697C>ACA398546131RAI1c.749C>A (p.Pro250Gln)
c.683C>A (p.Pro228Gln)
dbSNP gnomAD v3 gnomAD v4
17g.17793697C=CA2250666683RAI1c.749C= (p.Pro250=)
c.683C= (p.Pro228=)
17g.17793697C>GCA398546132RAI1c.749C>G (p.Pro250Arg)
c.683C>G (p.Pro228Arg)
dbSNP gnomAD v2 gnomAD v4
17g.17793697C>TCA8418178RAI1c.749C>T (p.Pro250Leu)
c.683C>T (p.Pro228Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793698G>ACA8418179RAI1c.750G>A (p.Pro250=)
c.684G>A (p.Pro228=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793698G>CCA498422737RAI1c.750G>C (p.Pro250=)
c.684G>C (p.Pro228=)
gnomAD v4
17g.17793698G=CA2250666688RAI1c.750G= (p.Pro250=)
c.684G= (p.Pro228=)
17g.17793698G>TCA498422736RAI1c.750G>T (p.Pro250=)
c.684G>T (p.Pro228=)
17g.17793699C>ACA398546133RAI1c.751C>A (p.Leu251Met)
c.685C>A (p.Leu229Met)
17g.17793699C=CA2250666690RAI1c.751C= (p.Leu251=)
c.685C= (p.Leu229=)
17g.17793699C>GCA8418180RAI1c.751C>G (p.Leu251Val)
c.685C>G (p.Leu229Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793699C>TCA8418181RAI1c.751C>T (p.Leu251=)
c.685C>T (p.Leu229=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793700T>ACA398546134RAI1c.752T>A (p.Leu251Gln)
c.686T>A (p.Leu229Gln)
17g.17793700T>CCA398546136RAI1c.752T>C (p.Leu251Pro)
c.686T>C (p.Leu229Pro)
17g.17793700T>GCA398546135RAI1c.752T>G (p.Leu251Arg)
c.686T>G (p.Leu229Arg)
17g.17793701G>ACA498422746RAI1c.753G>A (p.Leu251=)
c.687G>A (p.Leu229=)
17g.17793701G>CCA498422747RAI1c.753G>C (p.Leu251=)
c.687G>C (p.Leu229=)
17g.17793701G>TCA498422748RAI1c.753G>T (p.Leu251=)
c.687G>T (p.Leu229=)
17g.17793702A>CCA398546137RAI1c.754A>C (p.Thr252Pro)
c.688A>C (p.Thr230Pro)
17g.17793702A>GCA398546138RAI1c.754A>G (p.Thr252Ala)
c.688A>G (p.Thr230Ala)
17g.17793702A>TCA398546139RAI1c.754A>T (p.Thr252Ser)
c.688A>T (p.Thr230Ser)
17g.17793703C>ACA398546140RAI1c.755C>A (p.Thr252Asn)
c.689C>A (p.Thr230Asn)
17g.17793703C>GCA398546141RAI1c.755C>G (p.Thr252Ser)
c.689C>G (p.Thr230Ser)
17g.17793703C>TCA398546142RAI1c.755C>T (p.Thr252Ile)
c.689C>T (p.Thr230Ile)
17g.17793704T>ACA498422751RAI1c.756T>A (p.Thr252=)
c.690T>A (p.Thr230=)
17g.17793704T>CCA498422752RAI1c.756T>C (p.Thr252=)
c.690T>C (p.Thr230=)
17g.17793704T>GCA498422753RAI1c.756T>G (p.Thr252=)
c.690T>G (p.Thr230=)
17g.17793705G>ACA8418182RAI1c.757G>A (p.Ala253Thr)
c.691G>A (p.Ala231Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793705G>CCA398546143RAI1c.757G>C (p.Ala253Pro)
c.691G>C (p.Ala231Pro)
17g.17793705G=CA2250666695RAI1c.757G= (p.Ala253=)
c.691G= (p.Ala231=)
17g.17793705G>TCA8418183RAI1c.757G>T (p.Ala253Ser)
c.691G>T (p.Ala231Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793706C>ACA398546144RAI1c.758C>A (p.Ala253Asp)
c.692C>A (p.Ala231Asp)
17g.17793706C=CA2250666703RAI1c.758C= (p.Ala253=)
c.692C= (p.Ala231=)
17g.17793706C>GCA398546145RAI1c.758C>G (p.Ala253Gly)
c.692C>G (p.Ala231Gly)
17g.17793706C>TCA398546146RAI1c.758C>T (p.Ala253Val)
c.692C>T (p.Ala231Val)
dbSNP
17g.17793707C>ACA8418184RAI1c.759C>A (p.Ala253=)
c.693C>A (p.Ala231=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793707C=CA2250666712RAI1c.759C= (p.Ala253=)
c.693C= (p.Ala231=)
17g.17793707C>GCA498422757RAI1c.759C>G (p.Ala253=)
c.693C>G (p.Ala231=)
17g.17793707C>TCA498422758RAI1c.759C>T (p.Ala253=)
c.693C>T (p.Ala231=)
gnomAD v4
17g.17793708A>CCA398546147RAI1c.760A>C (p.Ser254Arg)
c.694A>C (p.Ser232Arg)
17g.17793708A>GCA398546149RAI1c.760A>G (p.Ser254Gly)
c.694A>G (p.Ser232Gly)
17g.17793708A>TCA398546148RAI1c.760A>T (p.Ser254Cys)
c.694A>T (p.Ser232Cys)
17g.17793709G>ACA398546150RAI1c.761G>A (p.Ser254Asn)
c.695G>A (p.Ser232Asn)
17g.17793709G>CCA398546151RAI1c.761G>C (p.Ser254Thr)
c.695G>C (p.Ser232Thr)
17g.17793709G=CA2250666718RAI1c.761G= (p.Ser254=)
c.695G= (p.Ser232=)
17g.17793709G>TCA398546152RAI1c.761G>T (p.Ser254Ile)
c.695G>T (p.Ser232Ile)
ClinVar dbSNP gnomAD v4
17g.17793710C>ACA398546153RAI1c.762C>A (p.Ser254Arg)
c.696C>A (p.Ser232Arg)
17g.17793710C>GCA398546154RAI1c.762C>G (p.Ser254Arg)
c.696C>G (p.Ser232Arg)
17g.17793710C>TCA498422759RAI1c.762C>T (p.Ser254=)
c.696C>T (p.Ser232=)
17g.17793711T>ACA398546155RAI1c.763T>A (p.Ser255Thr)
c.697T>A (p.Ser233Thr)
17g.17793711T>CCA8418185RAI1c.763T>C (p.Ser255Pro)
c.697T>C (p.Ser233Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793711T>GCA398546156RAI1c.763T>G (p.Ser255Ala)
c.697T>G (p.Ser233Ala)
17g.17793711T=CA2250666720RAI1c.763T= (p.Ser255=)
c.697T= (p.Ser233=)
17g.17793712C>ACA398546157RAI1c.764C>A (p.Ser255Tyr)
c.698C>A (p.Ser233Tyr)
17g.17793712C=CA2250666723RAI1c.764C= (p.Ser255=)
c.698C= (p.Ser233=)
17g.17793712C>GCA398546158RAI1c.764C>G (p.Ser255Cys)
c.698C>G (p.Ser233Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793712C>TCA398546159RAI1c.764C>T (p.Ser255Phe)
c.698C>T (p.Ser233Phe)
17g.17793713C>ACA498422763RAI1c.765C>A (p.Ser255=)
c.699C>A (p.Ser233=)
17g.17793713C=CA2250666725RAI1c.765C= (p.Ser255=)
c.699C= (p.Ser233=)
17g.17793713C>GCA498422764RAI1c.765C>G (p.Ser255=)
c.699C>G (p.Ser233=)
17g.17793713C>TCA8418186RAI1c.765C>T (p.Ser255=)
c.699C>T (p.Ser233=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793714A>CCA398546162RAI1c.766A>C (p.Ser256Arg)
c.700A>C (p.Ser234Arg)
17g.17793714A>GCA398546160RAI1c.766A>G (p.Ser256Gly)
c.700A>G (p.Ser234Gly)
17g.17793714A>TCA398546161RAI1c.766A>T (p.Ser256Cys)
c.700A>T (p.Ser234Cys)
17g.17793715G>ACA8418187RAI1c.767G>A (p.Ser256Asn)
c.701G>A (p.Ser234Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793715G>CCA398546163RAI1c.767G>C (p.Ser256Thr)
c.701G>C (p.Ser234Thr)
17g.17793715G=CA2250666734RAI1c.767G= (p.Ser256=)
c.701G= (p.Ser234=)
17g.17793715G>TCA398546164RAI1c.767G>T (p.Ser256Ile)
c.701G>T (p.Ser234Ile)
17g.17793716C>ACA398546165RAI1c.768C>A (p.Ser256Arg)
c.702C>A (p.Ser234Arg)
17g.17793716C>GCA398546166RAI1c.768C>G (p.Ser256Arg)
c.702C>G (p.Ser234Arg)
17g.17793716C>TCA498422766RAI1c.768C>T (p.Ser256=)
c.702C>T (p.Ser234=)
gnomAD v4
17g.17793717C>ACA398546167RAI1c.769C>A (p.Leu257Met)
c.703C>A (p.Leu235Met)
17g.17793717C=CA2250666738RAI1c.769C= (p.Leu257=)
c.703C= (p.Leu235=)
17g.17793717C>GCA288367240RAI1c.769C>G (p.Leu257Val)
c.703C>G (p.Leu235Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.17793717C>TCA498422767RAI1c.769C>T (p.Leu257=)
c.703C>T (p.Leu235=)
17g.17793718T>ACA398546168RAI1c.770T>A (p.Leu257Gln)
c.704T>A (p.Leu235Gln)
17g.17793718T>CCA398546169RAI1c.770T>C (p.Leu257Pro)
c.704T>C (p.Leu235Pro)
17g.17793718T>GCA398546170RAI1c.770T>G (p.Leu257Arg)
c.704T>G (p.Leu235Arg)
ClinVar
17g.17793719G>ACA498422768RAI1c.771G>A (p.Leu257=)
c.705G>A (p.Leu235=)
17g.17793719G>CCA498422769RAI1c.771G>C (p.Leu257=)
c.705G>C (p.Leu235=)
17g.17793719G>TCA498422771RAI1c.771G>T (p.Leu257=)
c.705G>T (p.Leu235=)
17g.17793720G>ACA398546172RAI1c.772G>A (p.Ala258Thr)
c.706G>A (p.Ala236Thr)
17g.17793720G>CCA398546173RAI1c.772G>C (p.Ala258Pro)
c.706G>C (p.Ala236Pro)
17g.17793720G>TCA398546171RAI1c.772G>T (p.Ala258Ser)
c.706G>T (p.Ala236Ser)
gnomAD v4
17g.17793721C>ACA398546174RAI1c.773C>A (p.Ala258Asp)
c.707C>A (p.Ala236Asp)
17g.17793721C=CA2250666745RAI1c.773C= (p.Ala258=)
c.707C= (p.Ala236=)
17g.17793721C>GCA398546175RAI1c.773C>G (p.Ala258Gly)
c.707C>G (p.Ala236Gly)
dbSNP gnomAD v3 gnomAD v4
17g.17793721C>TCA398546176RAI1c.773C>T (p.Ala258Val)
c.707C>T (p.Ala236Val)
gnomAD v4
17g.17793722C>ACA498422774RAI1c.774C>A (p.Ala258=)
c.708C>A (p.Ala236=)
17g.17793722C=CA2250666748RAI1c.774C= (p.Ala258=)
c.708C= (p.Ala236=)
17g.17793722C>GCA498422775RAI1c.774C>G (p.Ala258=)
c.708C>G (p.Ala236=)
17g.17793722C>TCA498422776RAI1c.774C>T (p.Ala258=)
c.708C>T (p.Ala236=)
ClinVar dbSNP gnomAD v4
17g.17793723C>ACA398546177RAI1c.775C>A (p.Pro259Thr)
c.709C>A (p.Pro237Thr)
17g.17793723C>GCA398546178RAI1c.775C>G (p.Pro259Ala)
c.709C>G (p.Pro237Ala)
17g.17793723C>TCA398546179RAI1c.775C>T (p.Pro259Ser)
c.709C>T (p.Pro237Ser)
17g.17793724C>ACA398546180RAI1c.776C>A (p.Pro259Gln)
c.710C>A (p.Pro237Gln)
17g.17793724C=CA2250666757RAI1c.776C= (p.Pro259=)
c.710C= (p.Pro237=)
17g.17793724C>GCA398546181RAI1c.776C>G (p.Pro259Arg)
c.710C>G (p.Pro237Arg)
17g.17793724C>TCA8418188RAI1c.776C>T (p.Pro259Leu)
c.710C>T (p.Pro237Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793725G>ACA8418189RAI1c.777G>A (p.Pro259=)
c.711G>A (p.Pro237=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.17793725G>CCA498422778RAI1c.777G>C (p.Pro259=)
c.711G>C (p.Pro237=)
17g.17793725G=CA2250666772RAI1c.777G= (p.Pro259=)
c.711G= (p.Pro237=)
17g.17793725G>TCA498422779RAI1c.777G>T (p.Pro259=)
c.711G>T (p.Pro237=)
17g.17793726G>ACA288367248RAI1c.778G>A (p.Gly260Arg)
c.712G>A (p.Gly238Arg)
dbSNP gnomAD v4
17g.17793726G>CCA398546182RAI1c.778G>C (p.Gly260Arg)
c.712G>C (p.Gly238Arg)
17g.17793726G=CA2250666778RAI1c.778G= (p.Gly260=)
c.712G= (p.Gly238=)
17g.17793726G>TCA398546183RAI1c.778G>T (p.Gly260Trp)
c.712G>T (p.Gly238Trp)
ClinVar
17g.17793727G>ACA398546186RAI1c.779G>A (p.Gly260Glu)
c.713G>A (p.Gly238Glu)
gnomAD v4
17g.17793727G>CCA398546185RAI1c.779G>C (p.Gly260Ala)
c.713G>C (p.Gly238Ala)
17g.17793727G>TCA398546184RAI1c.779G>T (p.Gly260Val)
c.713G>T (p.Gly238Val)
17g.17793728G>ACA8418190RAI1c.780G>A (p.Gly260=)
c.714G>A (p.Gly238=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793728G>CCA498422781RAI1c.780G>C (p.Gly260=)
c.714G>C (p.Gly238=)
17g.17793728G=CA2250666783RAI1c.780G= (p.Gly260=)
c.714G= (p.Gly238=)
17g.17793728G>TCA498422783RAI1c.780G>T (p.Gly260=)
c.714G>T (p.Gly238=)
dbSNP gnomAD v4
17g.17793729C>ACA398546187RAI1c.781C>A (p.Gln261Lys)
c.715C>A (p.Gln239Lys)
17g.17793729C>GCA398546188RAI1c.781C>G (p.Gln261Glu)
c.715C>G (p.Gln239Glu)
17g.17793729C>TCA398546189RAI1c.781C>T (p.Gln261Ter)
c.715C>T (p.Gln239Ter)
17g.17793730A=CA2250666790RAI1c.782A= (p.Gln261=)
c.716A= (p.Gln239=)
17g.17793730A>CCA398546190RAI1c.782A>C (p.Gln261Pro)
c.716A>C (p.Gln239Pro)
17g.17793730A>GCA8418191RAI1c.782A>G (p.Gln261Arg)
c.716A>G (p.Gln239Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.17793730A>TCA398546191RAI1c.782A>T (p.Gln261Leu)
c.716A>T (p.Gln239Leu)
17g.17793731G>ACA498422784RAI1c.783G>A (p.Gln261=)
c.717G>A (p.Gln239=)
17g.17793731G>CCA398546192RAI1c.783G>C (p.Gln261His)
c.717G>C (p.Gln239His)
17g.17793731G>TCA398546193RAI1c.783G>T (p.Gln261His)
c.717G>T (p.Gln239His)

Number of alleles fetched