Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.47441630delCA2613411416RAPSNc.894del (p.Arg299GlyfsTer25)
c.789+194del (n.789+194del)
c.735del (p.Arg246GlyfsTer25)
n.103del
c.894del (p.Arg299GlyfsTer7)
c.894del (p.Arg299GlyfsTer16)
c.894del (p.Arg299GlyfsTer?)
 gnomAD v4
11g.47441630G>ACA380328921RAPSNc.893C>T (p.Ala298Val)
c.789+193C>T (n.789+193C>T)
c.734C>T (p.Ala245Val)
n.102C>T
 gnomAD v4
11g.47441630G>CCA380328922RAPSNc.893C>G (p.Ala298Gly)
c.789+193C>G (n.789+193C>G)
c.734C>G (p.Ala245Gly)
n.102C>G
11g.47441630G>TCA380328924RAPSNc.893C>A (p.Ala298Asp)
c.789+193C>A (n.789+193C>A)
c.734C>A (p.Ala245Asp)
n.102C>A
 gnomAD v4
11g.47441631C>ACA380328938RAPSNc.892G>T (p.Ala298Ser)
c.789+192G>T (n.789+192G>T)
c.733G>T (p.Ala245Ser)
n.101G>T
 gnomAD v4
11g.47441631C>GCA380328928RAPSNc.892G>C (p.Ala298Pro)
c.789+192G>C (n.789+192G>C)
c.733G>C (p.Ala245Pro)
n.101G>C
11g.47441631C>TCA380328935RAPSNc.892G>A (p.Ala298Thr)
c.789+192G>A (n.789+192G>A)
c.733G>A (p.Ala245Thr)
n.101G>A
 gnomAD v4
11g.47441632delCA2613411425RAPSNc.892del (p.Ala298ProfsTer26)
c.789+192del (n.789+192del)
c.733del (p.Ala245ProfsTer26)
n.101del
c.892del (p.Ala298ProfsTer8)
c.892del (p.Ala298ProfsTer17)
c.892del (p.Ala298ProfsTer?)
 gnomAD v4
11g.47441632C>ACA474217999RAPSNc.891G>T (p.Val297=)
c.789+191G>T (n.789+191G>T)
c.732G>T (p.Val244=)
n.100G>T
11g.47441632C=CA1969387561RAPSNc.891G= (p.Val297=)
c.789+191G= (n.789+191G=)
c.732G= (p.Val244=)
n.100G=
11g.47441632C>GCA474218000RAPSNc.891G>C (p.Val297=)
c.789+191G>C (n.789+191G>C)
c.732G>C (p.Val244=)
n.100G>C
11g.47441632C>TCA221716147RAPSNc.891G>A (p.Val297=)
c.789+191G>A (n.789+191G>A)
c.732G>A (p.Val244=)
n.100G>A
 dbSNP
11g.47441633A=CA1969387562RAPSNc.890T= (p.Val297=)
c.789+190T= (n.789+190T=)
c.731T= (p.Val244=)
n.99T=
11g.47441633A>CCA380328944RAPSNc.890T>G (p.Val297Gly)
c.789+190T>G (n.789+190T>G)
c.731T>G (p.Val244Gly)
n.99T>G
 dbSNP
11g.47441633A>GCA380328956RAPSNc.890T>C (p.Val297Ala)
c.789+190T>C (n.789+190T>C)
c.731T>C (p.Val244Ala)
n.99T>C
 dbSNP gnomAD v2 gnomAD v4
11g.47441633A>TCA380328965RAPSNc.890T>A (p.Val297Glu)
c.789+190T>A (n.789+190T>A)
c.731T>A (p.Val244Glu)
n.99T>A
11g.47441634C>ACA380328969RAPSNc.889G>T (p.Val297Leu)
c.789+189G>T (n.789+189G>T)
c.730G>T (p.Val244Leu)
n.98G>T
11g.47441634C=CA1969387563RAPSNc.889G= (p.Val297=)
c.789+189G= (n.789+189G=)
c.730G= (p.Val244=)
n.98G=
11g.47441634C>GCA380328977RAPSNc.889G>C (p.Val297Leu)
c.789+189G>C (n.789+189G>C)
c.730G>C (p.Val244Leu)
n.98G>C
11g.47441634C>TCA5976596RAPSNc.889G>A (p.Val297Met)
c.789+189G>A (n.789+189G>A)
c.730G>A (p.Val244Met)
n.98G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441635C>ACA380328983RAPSNc.888G>T (p.Trp296Cys)
c.789+188G>T (n.789+188G>T)
c.729G>T (p.Trp243Cys)
n.97G>T
 gnomAD v4
11g.47441635C>GCA380328985RAPSNc.888G>C (p.Trp296Cys)
c.789+188G>C (n.789+188G>C)
c.729G>C (p.Trp243Cys)
n.97G>C
11g.47441635C>TCA380328989RAPSNc.888G>A (p.Trp296Ter)
c.789+188G>A (n.789+188G>A)
c.729G>A (p.Trp243Ter)
n.97G>A
 ClinVar gnomAD v4
11g.47441636C>ACA380328992RAPSNc.887G>T (p.Trp296Leu)
c.789+187G>T (n.789+187G>T)
c.728G>T (p.Trp243Leu)
n.96G>T
11g.47441636C=CA1969387564RAPSNc.887G= (p.Trp296=)
c.789+187G= (n.789+187G=)
c.728G= (p.Trp243=)
n.96G=
11g.47441636C>GCA380328995RAPSNc.887G>C (p.Trp296Ser)
c.789+187G>C (n.789+187G>C)
c.728G>C (p.Trp243Ser)
n.96G>C
11g.47441636C>TCA221716192RAPSNc.887G>A (p.Trp296Ter)
c.789+187G>A (n.789+187G>A)
c.728G>A (p.Trp243Ter)
n.96G>A
 dbSNP
11g.47441637A>CCA380329006RAPSNc.886T>G (p.Trp296Gly)
c.789+186T>G (n.789+186T>G)
c.727T>G (p.Trp243Gly)
n.95T>G
11g.47441637A>GCA380329004RAPSNc.886T>C (p.Trp296Arg)
c.789+186T>C (n.789+186T>C)
c.727T>C (p.Trp243Arg)
n.95T>C
11g.47441637A>TCA380329001RAPSNc.886T>A (p.Trp296Arg)
c.789+186T>A (n.789+186T>A)
c.727T>A (p.Trp243Arg)
n.95T>A
11g.47441638G>ACA474218001RAPSNc.885C>T (p.Cys295=)
c.789+185C>T (n.789+185C>T)
c.726C>T (p.Cys242=)
n.94C>T
11g.47441638G>CCA380329011RAPSNc.885C>G (p.Cys295Trp)
c.789+185C>G (n.789+185C>G)
c.726C>G (p.Cys242Trp)
n.94C>G
 gnomAD v4
11g.47441638G>TCA380329013RAPSNc.885C>A (p.Cys295Ter)
c.789+185C>A (n.789+185C>A)
c.726C>A (p.Cys242Ter)
n.94C>A
 ClinVar gnomAD v4
11g.47441639C>ACA380329016RAPSNc.884G>T (p.Cys295Phe)
c.789+184G>T (n.789+184G>T)
c.725G>T (p.Cys242Phe)
n.93G>T
 gnomAD v4
11g.47441639C>GCA380329017RAPSNc.884G>C (p.Cys295Ser)
c.789+184G>C (n.789+184G>C)
c.725G>C (p.Cys242Ser)
n.93G>C
11g.47441639C>TCA380329020RAPSNc.884G>A (p.Cys295Tyr)
c.789+184G>A (n.789+184G>A)
c.725G>A (p.Cys242Tyr)
n.93G>A
 gnomAD v4
11g.47441640A=CA1969387565RAPSNc.883T= (p.Cys295=)
c.789+183T= (n.789+183T=)
c.724T= (p.Cys242=)
n.92T=
11g.47441640A>CCA380329025RAPSNc.883T>G (p.Cys295Gly)
c.789+183T>G (n.789+183T>G)
c.724T>G (p.Cys242Gly)
n.92T>G
 dbSNP
11g.47441640A>GCA380329027RAPSNc.883T>C (p.Cys295Arg)
c.789+183T>C (n.789+183T>C)
c.724T>C (p.Cys242Arg)
n.92T>C
11g.47441640A>TCA380329030RAPSNc.883T>A (p.Cys295Ser)
c.789+183T>A (n.789+183T>A)
c.724T>A (p.Cys242Ser)
n.92T>A
11g.47441641C>ACA380329041RAPSNc.882G>T (p.Lys294Asn)
c.789+182G>T (n.789+182G>T)
c.723G>T (p.Lys241Asn)
n.91G>T
11g.47441641C>GCA380329044RAPSNc.882G>C (p.Lys294Asn)
c.789+182G>C (n.789+182G>C)
c.723G>C (p.Lys241Asn)
n.91G>C
11g.47441641C>TCA474218002RAPSNc.882G>A (p.Lys294=)
c.789+182G>A (n.789+182G>A)
c.723G>A (p.Lys241=)
n.91G>A
11g.47441642T>ACA380329049RAPSNc.881A>T (p.Lys294Met)
c.789+181A>T (n.789+181A>T)
c.722A>T (p.Lys241Met)
n.90A>T
11g.47441642T>CCA5976597RAPSNc.881A>G (p.Lys294Arg)
c.789+181A>G (n.789+181A>G)
c.722A>G (p.Lys241Arg)
n.90A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441642T>GCA380329052RAPSNc.881A>C (p.Lys294Thr)
c.789+181A>C (n.789+181A>C)
c.722A>C (p.Lys241Thr)
n.90A>C
11g.47441642T=CA1969387566RAPSNc.881A= (p.Lys294=)
c.789+181A= (n.789+181A=)
c.722A= (p.Lys241=)
n.90A=
11g.47441643T>ACA380329076RAPSNc.880A>T (p.Lys294Ter)
c.789+180A>T (n.789+180A>T)
c.721A>T (p.Lys241Ter)
n.89A>T
11g.47441643T>CCA380329072RAPSNc.880A>G (p.Lys294Glu)
c.789+180A>G (n.789+180A>G)
c.721A>G (p.Lys241Glu)
n.89A>G
11g.47441643T>GCA380329068RAPSNc.880A>C (p.Lys294Gln)
c.789+180A>C (n.789+180A>C)
c.721A>C (p.Lys241Gln)
n.89A>C
 gnomAD v4
11g.47441644G>ACA474218100RAPSNc.879C>T (p.Ala293=)
c.789+179C>T (n.789+179C>T)
c.720C>T (p.Ala240=)
n.88C>T
11g.47441644G>CCA474218102RAPSNc.879C>G (p.Ala293=)
c.789+179C>G (n.789+179C>G)
c.720C>G (p.Ala240=)
n.88C>G
11g.47441644G>TCA474218103RAPSNc.879C>A (p.Ala293=)
c.789+179C>A (n.789+179C>A)
c.720C>A (p.Ala240=)
n.88C>A
 gnomAD v4
11g.47441645G>ACA221716200RAPSNc.878C>T (p.Ala293Val)
c.789+178C>T (n.789+178C>T)
c.719C>T (p.Ala240Val)
n.87C>T
 dbSNP
11g.47441645G>CCA380329092RAPSNc.878C>G (p.Ala293Gly)
c.789+178C>G (n.789+178C>G)
c.719C>G (p.Ala240Gly)
n.87C>G
11g.47441645G=CA1969387567RAPSNc.878C= (p.Ala293=)
c.789+178C= (n.789+178C=)
c.719C= (p.Ala240=)
n.87C=
11g.47441645G>TCA380329096RAPSNc.878C>A (p.Ala293Asp)
c.789+178C>A (n.789+178C>A)
c.719C>A (p.Ala240Asp)
n.87C>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441646C>ACA380329109RAPSNc.877G>T (p.Ala293Ser)
c.789+177G>T (n.789+177G>T)
c.718G>T (p.Ala240Ser)
n.86G>T
11g.47441646C=CA1969387568RAPSNc.877G= (p.Ala293=)
c.789+177G= (n.789+177G=)
c.718G= (p.Ala240=)
n.86G=
11g.47441646C>GCA380329113RAPSNc.877G>C (p.Ala293Pro)
c.789+177G>C (n.789+177G>C)
c.718G>C (p.Ala240Pro)
n.86G>C
11g.47441646C>TCA380329116RAPSNc.877G>A (p.Ala293Thr)
c.789+177G>A (n.789+177G>A)
c.718G>A (p.Ala240Thr)
n.86G>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441647C>ACA474218106RAPSNc.876G>T (p.Val292=)
c.789+176G>T (n.789+176G>T)
c.717G>T (p.Val239=)
n.85G>T
 gnomAD v4
11g.47441647C>GCA474218107RAPSNc.876G>C (p.Val292=)
c.789+176G>C (n.789+176G>C)
c.717G>C (p.Val239=)
n.85G>C
11g.47441647C>TCA474218108RAPSNc.876G>A (p.Val292=)
c.789+176G>A (n.789+176G>A)
c.717G>A (p.Val239=)
n.85G>A
 dbSNP
11g.47441648A>CCA380329126RAPSNc.875T>G (p.Val292Gly)
c.789+175T>G (n.789+175T>G)
c.716T>G (p.Val239Gly)
n.84T>G
11g.47441648A>GCA380329123RAPSNc.875T>C (p.Val292Ala)
c.789+175T>C (n.789+175T>C)
c.716T>C (p.Val239Ala)
n.84T>C
11g.47441648A>TCA380329119RAPSNc.875T>A (p.Val292Glu)
c.789+175T>A (n.789+175T>A)
c.716T>A (p.Val239Glu)
n.84T>A
11g.47441649C>ACA380329127RAPSNc.874G>T (p.Val292Leu)
c.789+174G>T (n.789+174G>T)
c.715G>T (p.Val239Leu)
n.83G>T
11g.47441649C=CA1969387569RAPSNc.874G= (p.Val292=)
c.789+174G= (n.789+174G=)
c.715G= (p.Val239=)
n.83G=
11g.47441649C>GCA380329129RAPSNc.874G>C (p.Val292Leu)
c.789+174G>C (n.789+174G>C)
c.715G>C (p.Val239Leu)
n.83G>C
11g.47441649C>TCA221716205RAPSNc.874G>A (p.Val292Met)
c.789+174G>A (n.789+174G>A)
c.715G>A (p.Val239Met)
n.83G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441650delCA645579421RAPSNc.873del (p.Val292TrpfsTer?)
c.789+173del (n.789+173del)
c.714del (p.Val239TrpfsTer?)
n.82del
c.873del (p.Val292TrpfsTer14)
c.873del (p.Val292TrpfsTer23)
 COSMIC
11g.47441650A=CA1969387570RAPSNc.873T= (p.Gly291=)
c.789+173T= (n.789+173T=)
c.714T= (p.Gly238=)
n.82T=
11g.47441650A>CCA474218112RAPSNc.873T>G (p.Gly291=)
c.789+173T>G (n.789+173T>G)
c.714T>G (p.Gly238=)
n.82T>G
 dbSNP
11g.47441650A>GCA474218113RAPSNc.873T>C (p.Gly291=)
c.789+173T>C (n.789+173T>C)
c.714T>C (p.Gly238=)
n.82T>C
11g.47441650A>TCA474218114RAPSNc.873T>A (p.Gly291=)
c.789+173T>A (n.789+173T>A)
c.714T>A (p.Gly238=)
n.82T>A
11g.47441651C>ACA380329133RAPSNc.872G>T (p.Gly291Val)
c.789+172G>T (n.789+172G>T)
c.713G>T (p.Gly238Val)
n.81G>T
11g.47441651C=CA1969387571RAPSNc.872G= (p.Gly291=)
c.789+172G= (n.789+172G=)
c.713G= (p.Gly238=)
n.81G=
11g.47441651C>GCA380329137RAPSNc.872G>C (p.Gly291Ala)
c.789+172G>C (n.789+172G>C)
c.713G>C (p.Gly238Ala)
n.81G>C
 ClinVar dbSNP
11g.47441651C>TCA5976598RAPSNc.872G>A (p.Gly291Asp)
c.789+172G>A (n.789+172G>A)
c.713G>A (p.Gly238Asp)
n.81G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441652C>ACA5976599RAPSNc.871G>T (p.Gly291Cys)
c.789+171G>T (n.789+171G>T)
c.712G>T (p.Gly238Cys)
n.80G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441652C=CA1969387572RAPSNc.871G= (p.Gly291=)
c.789+171G= (n.789+171G=)
c.712G= (p.Gly238=)
n.80G=
11g.47441652C>GCA380329148RAPSNc.871G>C (p.Gly291Arg)
c.789+171G>C (n.789+171G>C)
c.712G>C (p.Gly238Arg)
n.80G>C
11g.47441652C>TCA380329146RAPSNc.871G>A (p.Gly291Ser)
c.789+171G>A (n.789+171G>A)
c.712G>A (p.Gly238Ser)
n.80G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441653C>ACA474218117RAPSNc.870G>T (p.Leu290=)
c.789+170G>T (n.789+170G>T)
c.711G>T (p.Leu237=)
n.79G>T
11g.47441653C=CA1969387573RAPSNc.870G= (p.Leu290=)
c.789+170G= (n.789+170G=)
c.711G= (p.Leu237=)
n.79G=
11g.47441653C>GCA474218120RAPSNc.870G>C (p.Leu290=)
c.789+170G>C (n.789+170G>C)
c.711G>C (p.Leu237=)
n.79G>C
11g.47441653C>TCA5976600RAPSNc.870G>A (p.Leu290=)
c.789+170G>A (n.789+170G>A)
c.711G>A (p.Leu237=)
n.79G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441654A>CCA380329156RAPSNc.869T>G (p.Leu290Arg)
c.789+169T>G (n.789+169T>G)
c.710T>G (p.Leu237Arg)
n.78T>G
11g.47441654A>GCA380329160RAPSNc.869T>C (p.Leu290Pro)
c.789+169T>C (n.789+169T>C)
c.710T>C (p.Leu237Pro)
n.78T>C
11g.47441654A>TCA380329162RAPSNc.869T>A (p.Leu290Gln)
c.789+169T>A (n.789+169T>A)
c.710T>A (p.Leu237Gln)
n.78T>A
11g.47441655G>ACA474218122RAPSNc.868C>T (p.Leu290=)
c.789+168C>T (n.789+168C>T)
c.709C>T (p.Leu237=)
n.77C>T
 ClinVar gnomAD v4
11g.47441655G>CCA380329165RAPSNc.868C>G (p.Leu290Val)
c.789+168C>G (n.789+168C>G)
c.709C>G (p.Leu237Val)
n.77C>G
11g.47441655G>TCA380329168RAPSNc.868C>A (p.Leu290Met)
c.789+168C>A (n.789+168C>A)
c.709C>A (p.Leu237Met)
n.77C>A
 gnomAD v4
11g.47441656C>ACA474218123RAPSNc.867G>T (p.Leu289=)
c.789+167G>T (n.789+167G>T)
c.708G>T (p.Leu236=)
n.76G>T
11g.47441656C>GCA474218124RAPSNc.867G>C (p.Leu289=)
c.789+167G>C (n.789+167G>C)
c.708G>C (p.Leu236=)
n.76G>C
11g.47441656C>TCA474218126RAPSNc.867G>A (p.Leu289=)
c.789+167G>A (n.789+167G>A)
c.708G>A (p.Leu236=)
n.76G>A
 ClinVar gnomAD v4
11g.47441657A>CCA380329172RAPSNc.866T>G (p.Leu289Arg)
c.789+166T>G (n.789+166T>G)
c.707T>G (p.Leu236Arg)
n.75T>G
11g.47441657A>GCA380329175RAPSNc.866T>C (p.Leu289Pro)
c.789+166T>C (n.789+166T>C)
c.707T>C (p.Leu236Pro)
n.75T>C
11g.47441657A>TCA380329179RAPSNc.866T>A (p.Leu289Gln)
c.789+166T>A (n.789+166T>A)
c.707T>A (p.Leu236Gln)
n.75T>A
11g.47441658G>ACA474218127RAPSNc.865C>T (p.Leu289=)
c.789+165C>T (n.789+165C>T)
c.706C>T (p.Leu236=)
n.74C>T
 ClinVar dbSNP
11g.47441658G>CCA380329182RAPSNc.865C>G (p.Leu289Val)
c.789+165C>G (n.789+165C>G)
c.706C>G (p.Leu236Val)
n.74C>G
11g.47441658G>TCA380329185RAPSNc.865C>A (p.Leu289Met)
c.789+165C>A (n.789+165C>A)
c.706C>A (p.Leu236Met)
n.74C>A
 gnomAD v4
11g.47441660_47441665dupCA2574817142RAPSNc.860_865dup (p.Ala288_Leu289insGlnAla)
c.789+160_789+165dup (n.789+160_789+165dup)
c.701_706dup (p.Ala235_Leu236insGlnAla)
n.69_74dup
11g.47441659C>ACA474218128RAPSNc.864G>T (p.Ala288=)
c.789+164G>T (n.789+164G>T)
c.705G>T (p.Ala235=)
n.73G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441659C=CA1969387574RAPSNc.864G= (p.Ala288=)
c.789+164G= (n.789+164G=)
c.705G= (p.Ala235=)
n.73G=
11g.47441659C>GCA474218130RAPSNc.864G>C (p.Ala288=)
c.789+164G>C (n.789+164G>C)
c.705G>C (p.Ala235=)
n.73G>C
11g.47441659C>TCA5976601RAPSNc.864G>A (p.Ala288=)
c.789+164G>A (n.789+164G>A)
c.705G>A (p.Ala235=)
n.73G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441660G>ACA5976602RAPSNc.863C>T (p.Ala288Val)
c.789+163C>T (n.789+163C>T)
c.704C>T (p.Ala235Val)
n.72C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47441660G>CCA380329201RAPSNc.863C>G (p.Ala288Gly)
c.789+163C>G (n.789+163C>G)
c.704C>G (p.Ala235Gly)
n.72C>G
11g.47441660G=CA1969387575RAPSNc.863C= (p.Ala288=)
c.789+163C= (n.789+163C=)
c.704C= (p.Ala235=)
n.72C=
11g.47441660G>TCA380329200RAPSNc.863C>A (p.Ala288Glu)
c.789+163C>A (n.789+163C>A)
c.704C>A (p.Ala235Glu)
n.72C>A
 gnomAD v4 COSMIC
11g.47441661C>ACA380329202RAPSNc.862G>T (p.Ala288Ser)
c.789+162G>T (n.789+162G>T)
c.703G>T (p.Ala235Ser)
n.71G>T
11g.47441661C>GCA380329203RAPSNc.862G>C (p.Ala288Pro)
c.789+162G>C (n.789+162G>C)
c.703G>C (p.Ala235Pro)
n.71G>C
11g.47441661C>TCA380329204RAPSNc.862G>A (p.Ala288Thr)
c.789+162G>A (n.789+162G>A)
c.703G>A (p.Ala235Thr)
n.71G>A
11g.47441662C>ACA380329205RAPSNc.861G>T (p.Gln287His)
c.789+161G>T (n.789+161G>T)
c.702G>T (p.Gln234His)
n.70G>T
11g.47441662C=CA1969387576RAPSNc.861G= (p.Gln287=)
c.789+161G= (n.789+161G=)
c.702G= (p.Gln234=)
n.70G=
11g.47441662C>GCA380329208RAPSNc.861G>C (p.Gln287His)
c.789+161G>C (n.789+161G>C)
c.702G>C (p.Gln234His)
n.70G>C
 dbSNP gnomAD v3 gnomAD v4
11g.47441662C>TCA474218132RAPSNc.861G>A (p.Gln287=)
c.789+161G>A (n.789+161G>A)
c.702G>A (p.Gln234=)
n.70G>A
11g.47441663T>ACA380329217RAPSNc.860A>T (p.Gln287Leu)
c.789+160A>T (n.789+160A>T)
c.701A>T (p.Gln234Leu)
n.69A>T
 gnomAD v4
11g.47441663T>CCA380329212RAPSNc.860A>G (p.Gln287Arg)
c.789+160A>G (n.789+160A>G)
c.701A>G (p.Gln234Arg)
n.69A>G
 gnomAD v4
11g.47441663T>GCA380329210RAPSNc.860A>C (p.Gln287Pro)
c.789+160A>C (n.789+160A>C)
c.701A>C (p.Gln234Pro)
n.69A>C
11g.47441664G>ACA380329220RAPSNc.859C>T (p.Gln287Ter)
c.789+159C>T (n.789+159C>T)
c.700C>T (p.Gln234Ter)
n.68C>T
 gnomAD v4
11g.47441664G>CCA380329221RAPSNc.859C>G (p.Gln287Glu)
c.789+159C>G (n.789+159C>G)
c.700C>G (p.Gln234Glu)
n.68C>G
11g.47441664G>TCA380329222RAPSNc.859C>A (p.Gln287Lys)
c.789+159C>A (n.789+159C>A)
c.700C>A (p.Gln234Lys)
n.68C>A
 gnomAD v4
11g.47441665C>ACA474218136RAPSNc.858G>T (p.Val286=)
c.789+158G>T (n.789+158G>T)
c.699G>T (p.Val233=)
n.67G>T
11g.47441665C=CA1969387577RAPSNc.858G= (p.Val286=)
c.789+158G= (n.789+158G=)
c.699G= (p.Val233=)
n.67G=
11g.47441665C>GCA474218138RAPSNc.858G>C (p.Val286=)
c.789+158G>C (n.789+158G>C)
c.699G>C (p.Val233=)
n.67G>C
11g.47441665C>TCA221716232RAPSNc.858G>A (p.Val286=)
c.789+158G>A (n.789+158G>A)
c.699G>A (p.Val233=)
n.67G>A
 dbSNP gnomAD v3 gnomAD v4
11g.47441666A=CA1969387578RAPSNc.857T= (p.Val286=)
c.789+157T= (n.789+157T=)
c.698T= (p.Val233=)
n.66T=
11g.47441666A>CCA380329225RAPSNc.857T>G (p.Val286Gly)
c.789+157T>G (n.789+157T>G)
c.698T>G (p.Val233Gly)
n.66T>G
 dbSNP
11g.47441666A>GCA380329226RAPSNc.857T>C (p.Val286Ala)
c.789+157T>C (n.789+157T>C)
c.698T>C (p.Val233Ala)
n.66T>C
11g.47441666A>TCA380329227RAPSNc.857T>A (p.Val286Glu)
c.789+157T>A (n.789+157T>A)
c.698T>A (p.Val233Glu)
n.66T>A
11g.47441667C>ACA380329231RAPSNc.856G>T (p.Val286Leu)
c.789+156G>T (n.789+156G>T)
c.697G>T (p.Val233Leu)
n.65G>T
 dbSNP gnomAD v2 gnomAD v4
11g.47441667C=CA1969387579RAPSNc.856G= (p.Val286=)
c.789+156G= (n.789+156G=)
c.697G= (p.Val233=)
n.65G=
11g.47441667C>GCA380329237RAPSNc.856G>C (p.Val286Leu)
c.789+156G>C (n.789+156G>C)
c.697G>C (p.Val233Leu)
n.65G>C
 gnomAD v4
11g.47441667C>TCA380329234RAPSNc.856G>A (p.Val286Met)
c.789+156G>A (n.789+156G>A)
c.697G>A (p.Val233Met)
n.65G>A
 gnomAD v4
11g.47441668C>ACA380329238RAPSNc.855G>T (p.Gln285His)
c.789+155G>T (n.789+155G>T)
c.696G>T (p.Gln232His)
n.64G>T
11g.47441668C=CA1630848699RAPSNc.855G= (p.Gln285=)
c.789+155G= (n.789+155G=)
c.696G= (p.Gln232=)
n.64G=
11g.47441668C>GCA380329241RAPSNc.855G>C (p.Gln285His)
c.789+155G>C (n.789+155G>C)
c.696G>C (p.Gln232His)
n.64G>C
11g.47441668C>TCA154878RAPSNc.855G>A (p.Gln285=)
c.789+155G>A (n.789+155G>A)
c.696G>A (p.Gln232=)
n.64G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441668_47441670delinsCTGCA1969387580RAPSNc.853_855delinsCAG (p.Gln285=)
c.789+153_789+155delinsCAG (n.789+153_789+155delinsCAG)
c.694_696delinsCAG (p.Gln232=)
n.62_64delinsCAG
11g.47441668_47441670delinsTTACA10603216RAPSNc.853_855delinsTAA (p.Gln285Ter)
c.789+153_789+155delinsTAA (n.789+153_789+155delinsTAA)
c.694_696delinsTAA (p.Gln232Ter)
n.62_64delinsTAA
 ClinVar dbSNP
11g.47441669T>ACA380329257RAPSNc.854A>T (p.Gln285Leu)
c.789+154A>T (n.789+154A>T)
c.695A>T (p.Gln232Leu)
n.63A>T
11g.47441669T>CCA380329263RAPSNc.854A>G (p.Gln285Arg)
c.789+154A>G (n.789+154A>G)
c.695A>G (p.Gln232Arg)
n.63A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441669T>GCA380329267RAPSNc.854A>C (p.Gln285Pro)
c.789+154A>C (n.789+154A>C)
c.695A>C (p.Gln232Pro)
n.63A>C
11g.47441669T=CA1969387581RAPSNc.854A= (p.Gln285=)
c.789+154A= (n.789+154A=)
c.695A= (p.Gln232=)
n.63A=
11g.47441670G>ACA380329271RAPSNc.853C>T (p.Gln285Ter)
c.789+153C>T (n.789+153C>T)
c.694C>T (p.Gln232Ter)
n.62C>T
 ClinVar dbSNP gnomAD v4
11g.47441670G>CCA380329272RAPSNc.853C>G (p.Gln285Glu)
c.789+153C>G (n.789+153C>G)
c.694C>G (p.Gln232Glu)
n.62C>G
11g.47441670G=CA1969387582RAPSNc.853C= (p.Gln285=)
c.789+153C= (n.789+153C=)
c.694C= (p.Gln232=)
n.62C=
11g.47441670G>TCA380329274RAPSNc.853C>A (p.Gln285Lys)
c.789+153C>A (n.789+153C>A)
c.694C>A (p.Gln232Lys)
n.62C>A
 gnomAD v4
11g.47441671C>ACA474218142RAPSNc.852G>T (p.Gly284=)
c.789+152G>T (n.789+152G>T)
c.693G>T (p.Gly231=)
n.61G>T
11g.47441671C>GCA474218143RAPSNc.852G>C (p.Gly284=)
c.789+152G>C (n.789+152G>C)
c.693G>C (p.Gly231=)
n.61G>C
11g.47441671C>TCA474218144RAPSNc.852G>A (p.Gly284=)
c.789+152G>A (n.789+152G>A)
c.693G>A (p.Gly231=)
n.61G>A
 gnomAD v4
11g.47441674delCA2613411535RAPSNc.852del (p.Gln285ArgfsTer?)
c.789+152del (n.789+152del)
c.693del (p.Gln232ArgfsTer?)
n.61del
c.852del (p.Gln285ArgfsTer21)
 gnomAD v4
11g.47441672C>ACA380329278RAPSNc.851G>T (p.Gly284Val)
c.789+151G>T (n.789+151G>T)
c.692G>T (p.Gly231Val)
n.60G>T
11g.47441672C>GCA380329290RAPSNc.851G>C (p.Gly284Ala)
c.789+151G>C (n.789+151G>C)
c.692G>C (p.Gly231Ala)
n.60G>C
11g.47441672C>TCA380329281RAPSNc.851G>A (p.Gly284Glu)
c.789+151G>A (n.789+151G>A)
c.692G>A (p.Gly231Glu)
n.60G>A
11g.47441673C>ACA380329293RAPSNc.850G>T (p.Gly284Trp)
c.789+150G>T (n.789+150G>T)
c.691G>T (p.Gly231Trp)
n.59G>T
11g.47441673C=CA1969387583RAPSNc.850G= (p.Gly284=)
c.789+150G= (n.789+150G=)
c.691G= (p.Gly231=)
n.59G=
11g.47441673C>GCA380329294RAPSNc.850G>C (p.Gly284Arg)
c.789+150G>C (n.789+150G>C)
c.691G>C (p.Gly231Arg)
n.59G>C
11g.47441673C>TCA380329296RAPSNc.850G>A (p.Gly284Arg)
c.789+150G>A (n.789+150G>A)
c.691G>A (p.Gly231Arg)
n.59G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441674C>ACA474218145RAPSNc.849G>T (p.Leu283=)
c.789+149G>T (n.789+149G>T)
c.690G>T (p.Leu230=)
n.58G>T
11g.47441674C=CA1969387584RAPSNc.849G= (p.Leu283=)
c.789+149G= (n.789+149G=)
c.690G= (p.Leu230=)
n.58G=
11g.47441674C>GCA474218146RAPSNc.849G>C (p.Leu283=)
c.789+149G>C (n.789+149G>C)
c.690G>C (p.Leu230=)
n.58G>C
11g.47441674C>TCA474218148RAPSNc.849G>A (p.Leu283=)
c.789+149G>A (n.789+149G>A)
c.690G>A (p.Leu230=)
n.58G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441675A=CA1969387585RAPSNc.848T= (p.Leu283=)
c.789+148T= (n.789+148T=)
c.689T= (p.Leu230=)
n.57T=
11g.47441675A>CCA380329298RAPSNc.848T>G (p.Leu283Arg)
c.789+148T>G (n.789+148T>G)
c.689T>G (p.Leu230Arg)
n.57T>G
11g.47441675A>GCA119255RAPSNc.848T>C (p.Leu283Pro)
c.789+148T>C (n.789+148T>C)
c.689T>C (p.Leu230Pro)
n.57T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441675A>TCA380329330RAPSNc.848T>A (p.Leu283Gln)
c.789+148T>A (n.789+148T>A)
c.689T>A (p.Leu230Gln)
n.57T>A
11g.47441676G>ACA474218149RAPSNc.847C>T (p.Leu283=)
c.789+147C>T (n.789+147C>T)
c.688C>T (p.Leu230=)
n.56C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441676G>CCA5976603RAPSNc.847C>G (p.Leu283Val)
c.789+147C>G (n.789+147C>G)
c.688C>G (p.Leu230Val)
n.56C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441676G=CA1969387586RAPSNc.847C= (p.Leu283=)
c.789+147C= (n.789+147C=)
c.688C= (p.Leu230=)
n.56C=
11g.47441676G>TCA380329336RAPSNc.847C>A (p.Leu283Met)
c.789+147C>A (n.789+147C>A)
c.688C>A (p.Leu230Met)
n.56C>A
 gnomAD v4
11g.47441677G>ACA474218150RAPSNc.846C>T (p.Arg282=)
c.789+146C>T (n.789+146C>T)
c.687C>T (p.Arg229=)
n.55C>T
 ClinVar dbSNP gnomAD v4
11g.47441677G>CCA474218151RAPSNc.846C>G (p.Arg282=)
c.789+146C>G (n.789+146C>G)
c.687C>G (p.Arg229=)
n.55C>G
11g.47441677G=CA1969387587RAPSNc.846C= (p.Arg282=)
c.789+146C= (n.789+146C=)
c.687C= (p.Arg229=)
n.55C=
11g.47441677G>TCA474218152RAPSNc.846C>A (p.Arg282=)
c.789+146C>A (n.789+146C>A)
c.687C>A (p.Arg229=)
n.55C>A
 gnomAD v4
11g.47441678C>ACA380329342RAPSNc.845G>T (p.Arg282Leu)
c.789+145G>T (n.789+145G>T)
c.686G>T (p.Arg229Leu)
n.54G>T
 ClinVar dbSNP gnomAD v4
11g.47441678C=CA1969387588RAPSNc.845G= (p.Arg282=)
c.789+145G= (n.789+145G=)
c.686G= (p.Arg229=)
n.54G=
11g.47441678C>GCA380329346RAPSNc.845G>C (p.Arg282Pro)
c.789+145G>C (n.789+145G>C)
c.686G>C (p.Arg229Pro)
n.54G>C
11g.47441678C>TCA5976604RAPSNc.845G>A (p.Arg282His)
c.789+145G>A (n.789+145G>A)
c.686G>A (p.Arg229His)
n.54G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441679G>ACA5976605RAPSNc.844C>T (p.Arg282Cys)
c.789+144C>T (n.789+144C>T)
c.685C>T (p.Arg229Cys)
n.53C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
11g.47441679G>CCA380329356RAPSNc.844C>G (p.Arg282Gly)
c.789+144C>G (n.789+144C>G)
c.685C>G (p.Arg229Gly)
n.53C>G
11g.47441679G=CA1969387589RAPSNc.844C= (p.Arg282=)
c.789+144C= (n.789+144C=)
c.685C= (p.Arg229=)
n.53C=
11g.47441679G>TCA380329365RAPSNc.844C>A (p.Arg282Ser)
c.789+144C>A (n.789+144C>A)
c.685C>A (p.Arg229Ser)
n.53C>A
 gnomAD v4
11g.47441680G>ACA474218154RAPSNc.843C>T (p.Asn281=)
c.789+143C>T (n.789+143C>T)
c.684C>T (p.Asn228=)
n.52C>T
11g.47441680G>CCA380329370RAPSNc.843C>G (p.Asn281Lys)
c.789+143C>G (n.789+143C>G)
c.684C>G (p.Asn228Lys)
n.52C>G
11g.47441680G>TCA380329368RAPSNc.843C>A (p.Asn281Lys)
c.789+143C>A (n.789+143C>A)
c.684C>A (p.Asn228Lys)
n.52C>A
 gnomAD v4
11g.47441681T>ACA380329374RAPSNc.842A>T (p.Asn281Ile)
c.789+142A>T (n.789+142A>T)
c.683A>T (p.Asn228Ile)
n.51A>T
11g.47441681T>CCA380329376RAPSNc.842A>G (p.Asn281Ser)
c.789+142A>G (n.789+142A>G)
c.683A>G (p.Asn228Ser)
n.51A>G
 gnomAD v4
11g.47441681T>GCA380329383RAPSNc.842A>C (p.Asn281Thr)
c.789+142A>C (n.789+142A>C)
c.683A>C (p.Asn228Thr)
n.51A>C
 dbSNP
11g.47441682T>ACA380329402RAPSNc.841A>T (p.Asn281Tyr)
c.789+141A>T (n.789+141A>T)
c.682A>T (p.Asn228Tyr)
n.50A>T
11g.47441682T>CCA380329407RAPSNc.841A>G (p.Asn281Asp)
c.789+141A>G (n.789+141A>G)
c.682A>G (p.Asn228Asp)
n.50A>G
11g.47441682T>GCA380329423RAPSNc.841A>C (p.Asn281His)
c.789+141A>C (n.789+141A>C)
c.682A>C (p.Asn228His)
n.50A>C
 gnomAD v4
11g.47441683T>ACA474218158RAPSNc.840A>T (p.Gly280=)
c.789+140A>T (n.789+140A>T)
c.681A>T (p.Gly227=)
n.49A>T
11g.47441683T>CCA474218160RAPSNc.840A>G (p.Gly280=)
c.789+140A>G (n.789+140A>G)
c.681A>G (p.Gly227=)
n.49A>G
 gnomAD v4
11g.47441683T>GCA474218159RAPSNc.840A>C (p.Gly280=)
c.789+140A>C (n.789+140A>C)
c.681A>C (p.Gly227=)
n.49A>C
11g.47441684C>ACA380329453RAPSNc.839G>T (p.Gly280Val)
c.789+139G>T (n.789+139G>T)
c.680G>T (p.Gly227Val)
n.48G>T
 gnomAD v4
11g.47441684C>GCA380329433RAPSNc.839G>C (p.Gly280Ala)
c.789+139G>C (n.789+139G>C)
c.680G>C (p.Gly227Ala)
n.48G>C
11g.47441684C>TCA380329449RAPSNc.839G>A (p.Gly280Glu)
c.789+139G>A (n.789+139G>A)
c.680G>A (p.Gly227Glu)
n.48G>A
 COSMIC
11g.47441685C>ACA380329470RAPSNc.838G>T (p.Gly280Ter)
c.789+138G>T (n.789+138G>T)
c.679G>T (p.Gly227Ter)
n.47G>T
 ClinVar dbSNP gnomAD v4
11g.47441685C=CA1969387590RAPSNc.838G= (p.Gly280=)
c.789+138G= (n.789+138G=)
c.679G= (p.Gly227=)
n.47G=
11g.47441685C>GCA380329477RAPSNc.838G>C (p.Gly280Arg)
c.789+138G>C (n.789+138G>C)
c.679G>C (p.Gly227Arg)
n.47G>C
11g.47441685C>TCA380329479RAPSNc.838G>A (p.Gly280Arg)
c.789+138G>A (n.789+138G>A)
c.679G>A (p.Gly227Arg)
n.47G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441686G>ACA5976606RAPSNc.837C>T (p.Ile279=)
c.789+137C>T (n.789+137C>T)
c.678C>T (p.Ile226=)
n.46C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G>CCA5976607RAPSNc.837C>G (p.Ile279Met)
c.789+137C>G (n.789+137C>G)
c.678C>G (p.Ile226Met)
n.46C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441686G=CA1969387591RAPSNc.837C= (p.Ile279=)
c.789+137C= (n.789+137C=)
c.678C= (p.Ile226=)
n.46C=
11g.47441686G>TCA474218162RAPSNc.837C>A (p.Ile279=)
c.789+137C>A (n.789+137C>A)
c.678C>A (p.Ile226=)
n.46C>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441687A>CCA380329504RAPSNc.836T>G (p.Ile279Ser)
c.789+136T>G (n.789+136T>G)
c.677T>G (p.Ile226Ser)
n.45T>G
11g.47441687A>GCA380329492RAPSNc.836T>C (p.Ile279Thr)
c.789+136T>C (n.789+136T>C)
c.677T>C (p.Ile226Thr)
n.45T>C
11g.47441687A>TCA380329501RAPSNc.836T>A (p.Ile279Asn)
c.789+136T>A (n.789+136T>A)
c.677T>A (p.Ile226Asn)
n.45T>A
11g.47441688T>ACA380329507RAPSNc.835A>T (p.Ile279Phe)
c.789+135A>T (n.789+135A>T)
c.676A>T (p.Ile226Phe)
n.44A>T
11g.47441688T>CCA380329539RAPSNc.835A>G (p.Ile279Val)
c.789+135A>G (n.789+135A>G)
c.676A>G (p.Ile226Val)
n.44A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441688T>GCA380329540RAPSNc.835A>C (p.Ile279Leu)
c.789+135A>C (n.789+135A>C)
c.676A>C (p.Ile226Leu)
n.44A>C
11g.47441688T=CA1969387592RAPSNc.835A= (p.Ile279=)
c.789+135A= (n.789+135A=)
c.676A= (p.Ile226=)
n.44A=
11g.47441689C>ACA380329541RAPSNc.834G>T (p.Glu278Asp)
c.789+134G>T (n.789+134G>T)
c.675G>T (p.Glu225Asp)
n.43G>T
11g.47441689C>GCA380329542RAPSNc.834G>C (p.Glu278Asp)
c.789+134G>C (n.789+134G>C)
c.675G>C (p.Glu225Asp)
n.43G>C
11g.47441689C>TCA474218166RAPSNc.834G>A (p.Glu278=)
c.789+134G>A (n.789+134G>A)
c.675G>A (p.Glu225=)
n.43G>A
 ClinVar
11g.47441690T>ACA380329545RAPSNc.833A>T (p.Glu278Val)
c.789+133A>T (n.789+133A>T)
c.674A>T (p.Glu225Val)
n.42A>T
11g.47441690T>CCA380329549RAPSNc.833A>G (p.Glu278Gly)
c.789+133A>G (n.789+133A>G)
c.674A>G (p.Glu225Gly)
n.42A>G
11g.47441690T>GCA380329552RAPSNc.833A>C (p.Glu278Ala)
c.789+133A>C (n.789+133A>C)
c.674A>C (p.Glu225Ala)
n.42A>C
11g.47441691C>ACA380329555RAPSNc.832G>T (p.Glu278Ter)
c.789+132G>T (n.789+132G>T)
c.673G>T (p.Glu225Ter)
n.41G>T
 gnomAD v4
11g.47441691C=CA1969387593RAPSNc.832G= (p.Glu278=)
c.789+132G= (n.789+132G=)
c.673G= (p.Glu225=)
n.41G=
11g.47441691C>GCA380329558RAPSNc.832G>C (p.Glu278Gln)
c.789+132G>C (n.789+132G>C)
c.673G>C (p.Glu225Gln)
n.41G>C
11g.47441691C>TCA380329559RAPSNc.832G>A (p.Glu278Lys)
c.789+132G>A (n.789+132G>A)
c.673G>A (p.Glu225Lys)
n.41G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
11g.47441692G>ACA5976608RAPSNc.831C>T (p.Thr277=)
c.789+131C>T (n.789+131C>T)
c.672C>T (p.Thr224=)
n.40C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441692G>CCA474218170RAPSNc.831C>G (p.Thr277=)
c.789+131C>G (n.789+131C>G)
c.672C>G (p.Thr224=)
n.40C>G
 gnomAD v4
11g.47441692G=CA1969387594RAPSNc.831C= (p.Thr277=)
c.789+131C= (n.789+131C=)
c.672C= (p.Thr224=)
n.40C=
11g.47441692G>TCA474218171RAPSNc.831C>A (p.Thr277=)
c.789+131C>A (n.789+131C>A)
c.672C>A (p.Thr224=)
n.40C>A
 ClinVar dbSNP gnomAD v4
11g.47441693G>ACA380329566RAPSNc.830C>T (p.Thr277Ile)
c.789+130C>T (n.789+130C>T)
c.671C>T (p.Thr224Ile)
n.39C>T
11g.47441693G>CCA380329564RAPSNc.830C>G (p.Thr277Ser)
c.789+130C>G (n.789+130C>G)
c.671C>G (p.Thr224Ser)
n.39C>G
11g.47441693G>TCA380329562RAPSNc.830C>A (p.Thr277Asn)
c.789+130C>A (n.789+130C>A)
c.671C>A (p.Thr224Asn)
n.39C>A
 gnomAD v4
11g.47441694T>ACA380329574RAPSNc.829A>T (p.Thr277Ser)
c.789+129A>T (n.789+129A>T)
c.670A>T (p.Thr224Ser)
n.38A>T
11g.47441694T>CCA351331RAPSNc.829A>G (p.Thr277Ala)
c.789+129A>G (n.789+129A>G)
c.670A>G (p.Thr224Ala)
n.38A>G
 dbSNP
11g.47441694T>GCA380329582RAPSNc.829A>C (p.Thr277Pro)
c.789+129A>C (n.789+129A>C)
c.670A>C (p.Thr224Pro)
n.38A>C
11g.47441694T=CA1969387595RAPSNc.829A= (p.Thr277=)
c.789+129A= (n.789+129A=)
c.670A= (p.Thr224=)
n.38A=
11g.47441695C>ACA380329584RAPSNc.828G>T (p.Met276Ile)
c.789+128G>T (n.789+128G>T)
c.669G>T (p.Met223Ile)
n.37G>T
 gnomAD v4
11g.47441695C>GCA380329585RAPSNc.828G>C (p.Met276Ile)
c.789+128G>C (n.789+128G>C)
c.669G>C (p.Met223Ile)
n.37G>C
11g.47441695C>TCA380329587RAPSNc.828G>A (p.Met276Ile)
c.789+128G>A (n.789+128G>A)
c.669G>A (p.Met223Ile)
n.37G>A
11g.47441696A>CCA380329591RAPSNc.827T>G (p.Met276Arg)
c.789+127T>G (n.789+127T>G)
c.668T>G (p.Met223Arg)
n.36T>G
11g.47441696A>GCA380329593RAPSNc.827T>C (p.Met276Thr)
c.789+127T>C (n.789+127T>C)
c.668T>C (p.Met223Thr)
n.36T>C
 gnomAD v4
11g.47441696A>TCA380329602RAPSNc.827T>A (p.Met276Lys)
c.789+127T>A (n.789+127T>A)
c.668T>A (p.Met223Lys)
n.36T>A
11g.47441697T>ACA380329605RAPSNc.826A>T (p.Met276Leu)
c.789+126A>T (n.789+126A>T)
c.667A>T (p.Met223Leu)
n.35A>T
 gnomAD v4
11g.47441697T>CCA380329607RAPSNc.826A>G (p.Met276Val)
c.789+126A>G (n.789+126A>G)
c.667A>G (p.Met223Val)
n.35A>G
 ClinVar gnomAD v4
11g.47441697T>GCA380329610RAPSNc.826A>C (p.Met276Leu)
c.789+126A>C (n.789+126A>C)
c.667A>C (p.Met223Leu)
n.35A>C
11g.47441698G>ACA474218177RAPSNc.825C>T (p.Ile275=)
c.789+125C>T (n.789+125C>T)
c.666C>T (p.Ile222=)
n.34C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.47441698G>CCA380329612RAPSNc.825C>G (p.Ile275Met)
c.789+125C>G (n.789+125C>G)
c.666C>G (p.Ile222Met)
n.34C>G
11g.47441698G=CA1969387596RAPSNc.825C= (p.Ile275=)
c.789+125C= (n.789+125C=)
c.666C= (p.Ile222=)
n.34C=
11g.47441698G>TCA474218178RAPSNc.825C>A (p.Ile275=)
c.789+125C>A (n.789+125C>A)
c.666C>A (p.Ile222=)
n.34C>A
 gnomAD v4
11g.47441699A=CA1969387597RAPSNc.824T= (p.Ile275=)
c.789+124T= (n.789+124T=)
c.665T= (p.Ile222=)
n.33T=
11g.47441699A>CCA5976609RAPSNc.824T>G (p.Ile275Ser)
c.789+124T>G (n.789+124T>G)
c.665T>G (p.Ile222Ser)
n.33T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441699A>GCA221716338RAPSNc.824T>C (p.Ile275Thr)
c.789+124T>C (n.789+124T>C)
c.665T>C (p.Ile222Thr)
n.33T>C
 dbSNP
11g.47441699A>TCA380329616RAPSNc.824T>A (p.Ile275Asn)
c.789+124T>A (n.789+124T>A)
c.665T>A (p.Ile222Asn)
n.33T>A
11g.47441700T>ACA380329635RAPSNc.823A>T (p.Ile275Phe)
c.789+123A>T (n.789+123A>T)
c.664A>T (p.Ile222Phe)
n.32A>T
11g.47441700T>CCA380329643RAPSNc.823A>G (p.Ile275Val)
c.789+123A>G (n.789+123A>G)
c.664A>G (p.Ile222Val)
n.32A>G
11g.47441700T>GCA380329639RAPSNc.823A>C (p.Ile275Leu)
c.789+123A>C (n.789+123A>C)
c.664A>C (p.Ile222Leu)
n.32A>C
11g.47441701G>ACA474218179RAPSNc.822C>T (p.Ser274=)
c.789+122C>T (n.789+122C>T)
c.663C>T (p.Ser221=)
n.31C>T
 ClinVar gnomAD v4
11g.47441701G>CCA380329646RAPSNc.822C>G (p.Ser274Arg)
c.789+122C>G (n.789+122C>G)
c.663C>G (p.Ser221Arg)
n.31C>G
11g.47441701G=CA1969387598RAPSNc.822C= (p.Ser274=)
c.789+122C= (n.789+122C=)
c.663C= (p.Ser221=)
n.31C=
11g.47441701G>TCA5976610RAPSNc.822C>A (p.Ser274Arg)
c.789+122C>A (n.789+122C>A)
c.663C>A (p.Ser221Arg)
n.31C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441702C>ACA380329649RAPSNc.821G>T (p.Ser274Ile)
c.789+121G>T (n.789+121G>T)
c.662G>T (p.Ser221Ile)
n.30G>T
11g.47441702C=CA1969387599RAPSNc.821G= (p.Ser274=)
c.789+121G= (n.789+121G=)
c.662G= (p.Ser221=)
n.30G=
11g.47441702C>GCA380329652RAPSNc.821G>C (p.Ser274Thr)
c.789+121G>C (n.789+121G>C)
c.662G>C (p.Ser221Thr)
n.30G>C
11g.47441702C>TCA5976611RAPSNc.821G>A (p.Ser274Asn)
c.789+121G>A (n.789+121G>A)
c.662G>A (p.Ser221Asn)
n.30G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441703T>ACA380329658RAPSNc.820A>T (p.Ser274Cys)
c.789+120A>T (n.789+120A>T)
c.661A>T (p.Ser221Cys)
n.29A>T
11g.47441703T>CCA380329659RAPSNc.820A>G (p.Ser274Gly)
c.789+120A>G (n.789+120A>G)
c.661A>G (p.Ser221Gly)
n.29A>G
11g.47441703T>GCA221716343RAPSNc.820A>C (p.Ser274Arg)
c.789+120A>C (n.789+120A>C)
c.661A>C (p.Ser221Arg)
n.29A>C
 dbSNP gnomAD v3 gnomAD v4
11g.47441703T=CA1969387600RAPSNc.820A= (p.Ser274=)
c.789+120A= (n.789+120A=)
c.661A= (p.Ser221=)
n.29A=
11g.47441704C>ACA380329662RAPSNc.819G>T (p.Met273Ile)
c.789+119G>T (n.789+119G>T)
c.660G>T (p.Met220Ile)
n.28G>T
11g.47441704C=CA1969387601RAPSNc.819G= (p.Met273=)
c.789+119G= (n.789+119G=)
c.660G= (p.Met220=)
n.28G=
11g.47441704C>GCA380329666RAPSNc.819G>C (p.Met273Ile)
c.789+119G>C (n.789+119G>C)
c.660G>C (p.Met220Ile)
n.28G>C
11g.47441704C>TCA5976612RAPSNc.819G>A (p.Met273Ile)
c.789+119G>A (n.789+119G>A)
c.660G>A (p.Met220Ile)
n.28G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A=CA1969387602RAPSNc.818T= (p.Met273=)
c.789+118T= (n.789+118T=)
c.659T= (p.Met220=)
n.27T=
11g.47441705A>CCA221716353RAPSNc.818T>G (p.Met273Arg)
c.789+118T>G (n.789+118T>G)
c.659T>G (p.Met220Arg)
n.27T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.47441705A>GCA380329687RAPSNc.818T>C (p.Met273Thr)
c.789+118T>C (n.789+118T>C)
c.659T>C (p.Met220Thr)
n.27T>C
 dbSNP gnomAD v4
11g.47441705A>TCA380329685RAPSNc.818T>A (p.Met273Lys)
c.789+118T>A (n.789+118T>A)
c.659T>A (p.Met220Lys)
n.27T>A
11g.47441706T>ACA380329699RAPSNc.817A>T (p.Met273Leu)
c.789+117A>T (n.789+117A>T)
c.658A>T (p.Met220Leu)
n.26A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.47441706T>CCA380329701RAPSNc.817A>G (p.Met273Val)
c.789+117A>G (n.789+117A>G)
c.658A>G (p.Met220Val)
n.26A>G
 dbSNP gnomAD v2 gnomAD v4
11g.47441706T>GCA380329703RAPSNc.817A>C (p.Met273Leu)
c.789+117A>C (n.789+117A>C)
c.658A>C (p.Met220Leu)
n.26A>C
 ClinVar gnomAD v4
11g.47441706T=CA1969387603RAPSNc.817A= (p.Met273=)
c.789+117A= (n.789+117A=)
c.658A= (p.Met220=)
n.26A=
11g.47441707G>ACA5976613RAPSNc.816C>T (p.Ala272=)
c.789+116C>T (n.789+116C>T)
c.657C>T (p.Ala219=)
n.25C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441707G>CCA474218182RAPSNc.816C>G (p.Ala272=)
c.789+116C>G (n.789+116C>G)
c.657C>G (p.Ala219=)
n.25C>G
11g.47441707G=CA1969387604RAPSNc.816C= (p.Ala272=)
c.789+116C= (n.789+116C=)
c.657C= (p.Ala219=)
n.25C=
11g.47441707G>TCA474218183RAPSNc.816C>A (p.Ala272=)
c.789+116C>A (n.789+116C>A)
c.657C>A (p.Ala219=)
n.25C>A
11g.47441708G>ACA5976614RAPSNc.815C>T (p.Ala272Val)
c.789+115C>T (n.789+115C>T)
c.656C>T (p.Ala219Val)
n.24C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441708G>CCA380329710RAPSNc.815C>G (p.Ala272Gly)
c.789+115C>G (n.789+115C>G)
c.656C>G (p.Ala219Gly)
n.24C>G
11g.47441708G=CA1969387605RAPSNc.815C= (p.Ala272=)
c.789+115C= (n.789+115C=)
c.656C= (p.Ala219=)
n.24C=
11g.47441708G>TCA380329713RAPSNc.815C>A (p.Ala272Asp)
c.789+115C>A (n.789+115C>A)
c.656C>A (p.Ala219Asp)
n.24C>A
 gnomAD v4
11g.47441709C>ACA5976616RAPSNc.814G>T (p.Ala272Ser)
c.789+114G>T (n.789+114G>T)
c.655G>T (p.Ala219Ser)
n.23G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441709C=CA1969387606RAPSNc.814G= (p.Ala272=)
c.789+114G= (n.789+114G=)
c.655G= (p.Ala219=)
n.23G=
11g.47441709C>GCA380329720RAPSNc.814G>C (p.Ala272Pro)
c.789+114G>C (n.789+114G>C)
c.655G>C (p.Ala219Pro)
n.23G>C
11g.47441709C>TCA5976615RAPSNc.814G>A (p.Ala272Thr)
c.789+114G>A (n.789+114G>A)
c.655G>A (p.Ala219Thr)
n.23G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441710G>ACA5976617RAPSNc.813C>T (p.Ser271=)
c.789+113C>T (n.789+113C>T)
c.654C>T (p.Ser218=)
n.22C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441710G>CCA474218184RAPSNc.813C>G (p.Ser271=)
c.789+113C>G (n.789+113C>G)
c.654C>G (p.Ser218=)
n.22C>G
11g.47441710G=CA1969387607RAPSNc.813C= (p.Ser271=)
c.789+113C= (n.789+113C=)
c.654C= (p.Ser218=)
n.22C=
11g.47441710G>TCA474218185RAPSNc.813C>A (p.Ser271=)
c.789+113C>A (n.789+113C>A)
c.654C>A (p.Ser218=)
n.22C>A
11g.47441711G>ACA380329728RAPSNc.812C>T (p.Ser271Phe)
c.789+112C>T (n.789+112C>T)
c.653C>T (p.Ser218Phe)
n.21C>T
11g.47441711G>CCA380329725RAPSNc.812C>G (p.Ser271Cys)
c.789+112C>G (n.789+112C>G)
c.653C>G (p.Ser218Cys)
n.21C>G
11g.47441711G>TCA380329722RAPSNc.812C>A (p.Ser271Tyr)
c.789+112C>A (n.789+112C>A)
c.653C>A (p.Ser218Tyr)
n.21C>A
11g.47441712A>CCA380329732RAPSNc.811T>G (p.Ser271Ala)
c.789+111T>G (n.789+111T>G)
c.652T>G (p.Ser218Ala)
n.20T>G
11g.47441712A>GCA380329733RAPSNc.811T>C (p.Ser271Pro)
c.789+111T>C (n.789+111T>C)
c.652T>C (p.Ser218Pro)
n.20T>C
11g.47441712A>TCA380329734RAPSNc.811T>A (p.Ser271Thr)
c.789+111T>A (n.789+111T>A)
c.652T>A (p.Ser218Thr)
n.20T>A
11g.47441713G>ACA474218187RAPSNc.810C>T (p.Asp270=)
c.789+110C>T (n.789+110C>T)
c.651C>T (p.Asp217=)
n.19C>T
11g.47441713G>CCA380329738RAPSNc.810C>G (p.Asp270Glu)
c.789+110C>G (n.789+110C>G)
c.651C>G (p.Asp217Glu)
n.19C>G
11g.47441713G>TCA380329740RAPSNc.810C>A (p.Asp270Glu)
c.789+110C>A (n.789+110C>A)
c.651C>A (p.Asp217Glu)
n.19C>A
 gnomAD v4
11g.47441714T>ACA380329742RAPSNc.809A>T (p.Asp270Val)
c.789+109A>T (n.789+109A>T)
c.650A>T (p.Asp217Val)
n.18A>T
11g.47441714T>CCA380329744RAPSNc.809A>G (p.Asp270Gly)
c.789+109A>G (n.789+109A>G)
c.650A>G (p.Asp217Gly)
n.18A>G
11g.47441714T>GCA380329745RAPSNc.809A>C (p.Asp270Ala)
c.789+109A>C (n.789+109A>C)
c.650A>C (p.Asp217Ala)
n.18A>C
11g.47441715C>ACA380329746RAPSNc.808G>T (p.Asp270Tyr)
c.789+108G>T (n.789+108G>T)
c.649G>T (p.Asp217Tyr)
n.17G>T
 gnomAD v4
11g.47441715C=CA1969387608RAPSNc.808G= (p.Asp270=)
c.789+108G= (n.789+108G=)
c.649G= (p.Asp217=)
n.17G=
11g.47441715C>GCA380329747RAPSNc.808G>C (p.Asp270His)
c.789+108G>C (n.789+108G>C)
c.649G>C (p.Asp217His)
n.17G>C
11g.47441715C>TCA5976618RAPSNc.808G>A (p.Asp270Asn)
c.789+108G>A (n.789+108G>A)
c.649G>A (p.Asp217Asn)
n.17G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.47441716G>ACA5976619RAPSNc.807C>T (p.Tyr269=)
c.789+107C>T (n.789+107C>T)
c.648C>T (p.Tyr216=)
n.16C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
11g.47441716G>CCA380329750RAPSNc.807C>G (p.Tyr269Ter)
c.789+107C>G (n.789+107C>G)
c.648C>G (p.Tyr216Ter)
n.16C>G
11g.47441716G=CA1969387609RAPSNc.807C= (p.Tyr269=)
c.789+107C= (n.789+107C=)
c.648C= (p.Tyr216=)
n.16C=
11g.47441716G>TCA119253RAPSNc.807C>A (p.Tyr269Ter)
c.789+107C>A (n.789+107C>A)
c.648C>A (p.Tyr216Ter)
n.16C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.47441717T>ACA380329752RAPSNc.806A>T (p.Tyr269Phe)
c.789+106A>T (n.789+106A>T)
c.647A>T (p.Tyr216Phe)
n.15A>T
 gnomAD v4
11g.47441717T>CCA380329753RAPSNc.806A>G (p.Tyr269Cys)
c.789+106A>G (n.789+106A>G)
c.647A>G (p.Tyr216Cys)
n.15A>G
11g.47441717T>GCA380329756RAPSNc.806A>C (p.Tyr269Ser)
c.789+106A>C (n.789+106A>C)
c.647A>C (p.Tyr216Ser)
n.15A>C
11g.47441718A>CCA380329764RAPSNc.805T>G (p.Tyr269Asp)
c.789+105T>G (n.789+105T>G)
c.646T>G (p.Tyr216Asp)
n.14T>G
11g.47441718A>GCA380329767RAPSNc.805T>C (p.Tyr269His)
c.789+105T>C (n.789+105T>C)
c.646T>C (p.Tyr216His)
n.14T>C
11g.47441718A>TCA380329768RAPSNc.805T>A (p.Tyr269Asn)
c.789+105T>A (n.789+105T>A)
c.646T>A (p.Tyr216Asn)
n.14T>A
11g.47441719C>ACA380329769RAPSNc.804G>T (p.Arg268Ser)
c.789+104G>T (n.789+104G>T)
c.645G>T (p.Arg215Ser)
n.13G>T
11g.47441719C>GCA380329770RAPSNc.804G>C (p.Arg268Ser)
c.789+104G>C (n.789+104G>C)
c.645G>C (p.Arg215Ser)
n.13G>C
11g.47441719C>TCA474218191RAPSNc.804G>A (p.Arg268=)
c.789+104G>A (n.789+104G>A)
c.645G>A (p.Arg215=)
n.13G>A
11g.47441720C>ACA380329772RAPSNc.803G>T (p.Arg268Met)
c.789+103G>T (n.789+103G>T)
c.644G>T (p.Arg215Met)
n.12G>T
 ClinVar
11g.47441720C=CA1969387610RAPSNc.803G= (p.Arg268=)
c.789+103G= (n.789+103G=)
c.644G= (p.Arg215=)
n.12G=
11g.47441720C>GCA380329774RAPSNc.803G>C (p.Arg268Thr)
c.789+103G>C (n.789+103G>C)
c.644G>C (p.Arg215Thr)
n.12G>C
11g.47441720C>TCA380329776RAPSNc.803G>A (p.Arg268Lys)
c.789+103G>A (n.789+103G>A)
c.644G>A (p.Arg215Lys)
n.12G>A
 dbSNP gnomAD v2 gnomAD v4
11g.47441721T>ACA380329779RAPSNc.802A>T (p.Arg268Trp)
c.789+102A>T (n.789+102A>T)
c.643A>T (p.Arg215Trp)
n.11A>T
11g.47441721T>CCA380329783RAPSNc.802A>G (p.Arg268Gly)
c.789+102A>G (n.789+102A>G)
c.643A>G (p.Arg215Gly)
n.11A>G
11g.47441721T>GCA474218195RAPSNc.802A>C (p.Arg268=)
c.789+102A>C (n.789+102A>C)
c.643A>C (p.Arg215=)
n.11A>C
11g.47441722G>ACA474218196RAPSNc.801C>T (p.Pro267=)
c.789+101C>T (n.789+101C>T)
c.642C>T (p.Pro214=)
n.10C>T
11g.47441722G>CCA474218197RAPSNc.801C>G (p.Pro267=)
c.789+101C>G (n.789+101C>G)
c.642C>G (p.Pro214=)
n.10C>G
11g.47441722G>TCA474218198RAPSNc.801C>A (p.Pro267=)
c.789+101C>A (n.789+101C>A)
c.642C>A (p.Pro214=)
n.10C>A
 gnomAD v4
11g.47441724_47441725dupCA2613411825RAPSNc.800_801dup (p.Arg268ProfsTer7)
c.789+100_789+101dup (n.789+100_789+101dup)
c.641_642dup (p.Arg215ProfsTer7)
n.9_10dup
 gnomAD v4
11g.47441725delCA2613411828RAPSNc.801del (p.Arg268GlyfsTer6)
c.789+101del (n.789+101del)
c.642del (p.Arg215GlyfsTer6)
n.10del
 gnomAD v4
11g.47441723G>ACA380329787RAPSNc.800C>T (p.Pro267Leu)
c.789+100C>T (n.789+100C>T)
c.641C>T (p.Pro214Leu)
n.9C>T
11g.47441723G>CCA380329790RAPSNc.800C>G (p.Pro267Arg)
c.789+100C>G (n.789+100C>G)
c.641C>G (p.Pro214Arg)
n.9C>G
11g.47441723G>TCA380329785RAPSNc.800C>A (p.Pro267His)
c.789+100C>A (n.789+100C>A)
c.641C>A (p.Pro214His)
n.9C>A
 gnomAD v4
11g.47441724G>ACA380329800RAPSNc.799C>T (p.Pro267Ser)
c.789+99C>T (n.789+99C>T)
c.640C>T (p.Pro214Ser)
n.8C>T
 ClinVar
11g.47441724G>CCA380329793RAPSNc.799C>G (p.Pro267Ala)
c.789+99C>G (n.789+99C>G)
c.640C>G (p.Pro214Ala)
n.8C>G
11g.47441724G>TCA380329796RAPSNc.799C>A (p.Pro267Thr)
c.789+99C>A (n.789+99C>A)
c.640C>A (p.Pro214Thr)
n.8C>A
 gnomAD v4
11g.47441725G>ACA474218200RAPSNc.798C>T (p.Phe266=)
c.789+98C>T (n.789+98C>T)
c.639C>T (p.Phe213=)
n.7C>T
 ClinVar dbSNP gnomAD v2
11g.47441725G>CCA380329802RAPSNc.798C>G (p.Phe266Leu)
c.789+98C>G (n.789+98C>G)
c.639C>G (p.Phe213Leu)
n.7C>G
11g.47441725G=CA1969387611RAPSNc.798C= (p.Phe266=)
c.789+98C= (n.789+98C=)
c.639C= (p.Phe213=)
n.7C=
11g.47441725G>TCA380329804RAPSNc.798C>A (p.Phe266Leu)
c.789+98C>A (n.789+98C>A)
c.639C>A (p.Phe213Leu)
n.7C>A
 gnomAD v4
11g.47441726A>CCA380329806RAPSNc.797T>G (p.Phe266Cys)
c.789+97T>G (n.789+97T>G)
c.638T>G (p.Phe213Cys)
n.6T>G
11g.47441726A>GCA380329808RAPSNc.797T>C (p.Phe266Ser)
c.789+97T>C (n.789+97T>C)
c.638T>C (p.Phe213Ser)
n.6T>C
 gnomAD v4 COSMIC
11g.47441726A>TCA380329812RAPSNc.797T>A (p.Phe266Tyr)
c.789+97T>A (n.789+97T>A)
c.638T>A (p.Phe213Tyr)
n.6T>A
11g.47441727delCA2613411846RAPSNc.797del (p.Phe266SerfsTer8)
c.789+97del (n.789+97del)
c.638del (p.Phe213SerfsTer8)
n.6del
 gnomAD v4
11g.47441727A>CCA380329815RAPSNc.796T>G (p.Phe266Val)
c.789+96T>G (n.789+96T>G)
c.637T>G (p.Phe213Val)
n.5T>G
 gnomAD v4
11g.47441727A>GCA380329816RAPSNc.796T>C (p.Phe266Leu)
c.789+96T>C (n.789+96T>C)
c.637T>C (p.Phe213Leu)
n.5T>C
11g.47441727A>TCA380329818RAPSNc.796T>A (p.Phe266Ile)
c.789+96T>A (n.789+96T>A)
c.637T>A (p.Phe213Ile)
n.5T>A
11g.47441728G>ACA474218202RAPSNc.795C>T (p.Ala265=)
c.789+95C>T (n.789+95C>T)
c.636C>T (p.Ala212=)
n.4C>T
11g.47441728G>CCA474218203RAPSNc.795C>G (p.Ala265=)
c.789+95C>G (n.789+95C>G)
c.636C>G (p.Ala212=)
n.4C>G
 dbSNP gnomAD v2
11g.47441728G=CA1969387612RAPSNc.795C= (p.Ala265=)
c.789+95C= (n.789+95C=)
c.636C= (p.Ala212=)
n.4C=
11g.47441728G>TCA474218204RAPSNc.795C>A (p.Ala265=)
c.789+95C>A (n.789+95C>A)
c.636C>A (p.Ala212=)
n.4C>A
 gnomAD v4
11g.47441729dupCA2695213977RAPSNc.795dup (p.Phe266LeufsTer?)
c.789+95dup (n.789+95dup)
c.636dup (p.Phe213LeufsTer?)
n.4dup
11g.47441729G>ACA380329822RAPSNc.794C>T (p.Ala265Val)
c.789+94C>T (n.789+94C>T)
c.635C>T (p.Ala212Val)
n.3C>T
 ClinVar dbSNP gnomAD v4
11g.47441729G>CCA380329823RAPSNc.794C>G (p.Ala265Gly)
c.789+94C>G (n.789+94C>G)
c.635C>G (p.Ala212Gly)
n.3C>G
11g.47441729G=CA1969387613RAPSNc.794C= (p.Ala265=)
c.789+94C= (n.789+94C=)
c.635C= (p.Ala212=)
n.3C=
11g.47441729G>TCA221716423RAPSNc.794C>A (p.Ala265Asp)
c.789+94C>A (n.789+94C>A)
c.635C>A (p.Ala212Asp)
n.3C>A
 dbSNP gnomAD v4 COSMIC
11g.47441730C>ACA380329824RAPSNc.793G>T (p.Ala265Ser)
c.789+93G>T (n.789+93G>T)
c.634G>T (p.Ala212Ser)
n.2G>T
 gnomAD v4
11g.47441730C=CA1969387614RAPSNc.793G= (p.Ala265=)
c.789+93G= (n.789+93G=)
c.634G= (p.Ala212=)
n.2G=
11g.47441730C>GCA380329825RAPSNc.793G>C (p.Ala265Pro)
c.789+93G>C (n.789+93G>C)
c.634G>C (p.Ala212Pro)
n.2G>C
11g.47441730C>TCA5976620RAPSNc.793G>A (p.Ala265Thr)
c.789+93G>A (n.789+93G>A)
c.634G>A (p.Ala212Thr)
n.2G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched