Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.139373137A>CCA365875935CITED2c.808T>G (p.Cys270Gly)
c.823T>G (p.Cys275Gly)
c.637T>G (p.Cys213Gly)
6g.139373137A>GCA365875938CITED2c.808T>C (p.Cys270Arg)
c.823T>C (p.Cys275Arg)
c.637T>C (p.Cys213Arg)
6g.139373137A>TCA365875936CITED2c.808T>A (p.Cys270Ser)
c.823T>A (p.Cys275Ser)
c.637T>A (p.Cys213Ser)
6g.139373138G>ACA452441090CITED2c.807C>T (p.Ser269=)
c.822C>T (p.Ser274=)
c.636C>T (p.Ser212=)
 dbSNP
6g.139373138G>CCA365875941CITED2c.807C>G (p.Ser269Arg)
c.822C>G (p.Ser274Arg)
c.636C>G (p.Ser212Arg)
6g.139373138G=CA1667372242CITED2c.807C= (p.Ser269=)
c.822C= (p.Ser274=)
c.636C= (p.Ser212=)
6g.139373138G>TCA365875942CITED2c.807C>A (p.Ser269Arg)
c.822C>A (p.Ser274Arg)
c.636C>A (p.Ser212Arg)
6g.139373139C>ACA365875944CITED2c.806G>T (p.Ser269Ile)
c.821G>T (p.Ser274Ile)
c.635G>T (p.Ser212Ile)
6g.139373139C=CA1667372243CITED2c.806G= (p.Ser269=)
c.821G= (p.Ser274=)
c.635G= (p.Ser212=)
6g.139373139C>GCA365875945CITED2c.806G>C (p.Ser269Thr)
c.821G>C (p.Ser274Thr)
c.635G>C (p.Ser212Thr)
6g.139373139C>TCA4025520CITED2c.806G>A (p.Ser269Asn)
c.821G>A (p.Ser274Asn)
c.635G>A (p.Ser212Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373140T>ACA365875949CITED2c.805A>T (p.Ser269Cys)
c.820A>T (p.Ser274Cys)
c.634A>T (p.Ser212Cys)
6g.139373140T>CCA365875951CITED2c.805A>G (p.Ser269Gly)
c.820A>G (p.Ser274Gly)
c.634A>G (p.Ser212Gly)
6g.139373140T>GCA365875953CITED2c.805A>C (p.Ser269Arg)
c.820A>C (p.Ser274Arg)
c.634A>C (p.Ser212Arg)
6g.139373141C>ACA452441091CITED2c.804G>T (p.Val268=)
c.819G>T (p.Val273=)
c.633G>T (p.Val211=)
 dbSNP
6g.139373141C=CA1667372244CITED2c.804G= (p.Val268=)
c.819G= (p.Val273=)
c.633G= (p.Val211=)
6g.139373141C>GCA452441092CITED2c.804G>C (p.Val268=)
c.819G>C (p.Val273=)
c.633G>C (p.Val211=)
6g.139373141C>TCA452441093CITED2c.804G>A (p.Val268=)
c.819G>A (p.Val273=)
c.633G>A (p.Val211=)
6g.139373142A>CCA365875955CITED2c.803T>G (p.Val268Gly)
c.818T>G (p.Val273Gly)
c.632T>G (p.Val211Gly)
6g.139373142A>GCA365875957CITED2c.803T>C (p.Val268Ala)
c.818T>C (p.Val273Ala)
c.632T>C (p.Val211Ala)
6g.139373142A>TCA365875959CITED2c.803T>A (p.Val268Glu)
c.818T>A (p.Val273Glu)
c.632T>A (p.Val211Glu)
6g.139373143C>ACA365875964CITED2c.802G>T (p.Val268Leu)
c.817G>T (p.Val273Leu)
c.631G>T (p.Val211Leu)
6g.139373143C>GCA365875962CITED2c.802G>C (p.Val268Leu)
c.817G>C (p.Val273Leu)
c.631G>C (p.Val211Leu)
6g.139373143C>TCA365875961CITED2c.802G>A (p.Val268Met)
c.817G>A (p.Val273Met)
c.631G>A (p.Val211Met)
6g.139373144T>ACA365875966CITED2c.801A>T (p.Arg267Ser)
c.816A>T (p.Arg272Ser)
c.630A>T (p.Arg210Ser)
6g.139373144T>CCA452441094CITED2c.801A>G (p.Arg267=)
c.816A>G (p.Arg272=)
c.630A>G (p.Arg210=)
6g.139373144T>GCA365875968CITED2c.801A>C (p.Arg267Ser)
c.816A>C (p.Arg272Ser)
c.630A>C (p.Arg210Ser)
6g.139373145C>ACA365875970CITED2c.800G>T (p.Arg267Ile)
c.815G>T (p.Arg272Ile)
c.629G>T (p.Arg210Ile)
6g.139373145C>GCA365875972CITED2c.800G>C (p.Arg267Thr)
c.815G>C (p.Arg272Thr)
c.629G>C (p.Arg210Thr)
6g.139373145C>TCA365875974CITED2c.800G>A (p.Arg267Lys)
c.815G>A (p.Arg272Lys)
c.629G>A (p.Arg210Lys)
6g.139373146T>ACA365875976CITED2c.799A>T (p.Arg267Ter)
c.814A>T (p.Arg272Ter)
c.628A>T (p.Arg210Ter)
6g.139373146T>CCA365875977CITED2c.799A>G (p.Arg267Gly)
c.814A>G (p.Arg272Gly)
c.628A>G (p.Arg210Gly)
6g.139373146T>GCA452441097CITED2c.799A>C (p.Arg267=)
c.814A>C (p.Arg272=)
c.628A>C (p.Arg210=)
6g.139373147G>ACA452441098CITED2c.798C>T (p.Ser266=)
c.813C>T (p.Ser271=)
c.627C>T (p.Ser209=)
 dbSNP gnomAD v2 gnomAD v4
6g.139373147G>CCA365875979CITED2c.798C>G (p.Ser266Arg)
c.813C>G (p.Ser271Arg)
c.627C>G (p.Ser209Arg)
 gnomAD v4
6g.139373147G=CA1667372245CITED2c.798C= (p.Ser266=)
c.813C= (p.Ser271=)
c.627C= (p.Ser209=)
6g.139373147G>TCA365875980CITED2c.798C>A (p.Ser266Arg)
c.813C>A (p.Ser271Arg)
c.627C>A (p.Ser209Arg)
6g.139373148C>ACA365875983CITED2c.797G>T (p.Ser266Ile)
c.812G>T (p.Ser271Ile)
c.626G>T (p.Ser209Ile)
6g.139373148C=CA1667372246CITED2c.797G= (p.Ser266=)
c.812G= (p.Ser271=)
c.626G= (p.Ser209=)
6g.139373148C>GCA365875984CITED2c.797G>C (p.Ser266Thr)
c.812G>C (p.Ser271Thr)
c.626G>C (p.Ser209Thr)
6g.139373148C>TCA4025521CITED2c.797G>A (p.Ser266Asn)
c.812G>A (p.Ser271Asn)
c.626G>A (p.Ser209Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373149T>ACA365875990CITED2c.796A>T (p.Ser266Cys)
c.811A>T (p.Ser271Cys)
c.625A>T (p.Ser209Cys)
6g.139373149T>CCA365875989CITED2c.796A>G (p.Ser266Gly)
c.811A>G (p.Ser271Gly)
c.625A>G (p.Ser209Gly)
 dbSNP gnomAD v4
6g.139373149T>GCA365875987CITED2c.796A>C (p.Ser266Arg)
c.811A>C (p.Ser271Arg)
c.625A>C (p.Ser209Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373149T=CA1667372247CITED2c.796A= (p.Ser266=)
c.811A= (p.Ser271=)
c.625A= (p.Ser209=)
6g.139373150G>ACA452441099CITED2c.795C>T (p.Pro265=)
c.810C>T (p.Pro270=)
c.624C>T (p.Pro208=)
6g.139373150G>CCA452441100CITED2c.795C>G (p.Pro265=)
c.810C>G (p.Pro270=)
c.624C>G (p.Pro208=)
6g.139373150G>TCA452441101CITED2c.795C>A (p.Pro265=)
c.810C>A (p.Pro270=)
c.624C>A (p.Pro208=)
6g.139373151G>ACA365875992CITED2c.794C>T (p.Pro265Leu)
c.809C>T (p.Pro270Leu)
c.623C>T (p.Pro208Leu)
6g.139373151G>CCA365875994CITED2c.794C>G (p.Pro265Arg)
c.809C>G (p.Pro270Arg)
c.623C>G (p.Pro208Arg)
6g.139373151G>TCA365875995CITED2c.794C>A (p.Pro265His)
c.809C>A (p.Pro270His)
c.623C>A (p.Pro208His)
6g.139373151_139373154delinsGGCTCA1667372248CITED2c.791_794delinsAGCC (p.Gln264=)
c.806_809delinsAGCC (p.Gln269=)
c.620_623delinsAGCC (p.Gln207=)
6g.139373152G>ACA365875997CITED2c.793C>T (p.Pro265Ser)
c.808C>T (p.Pro270Ser)
c.622C>T (p.Pro208Ser)
6g.139373152G>CCA148813780CITED2c.793C>G (p.Pro265Ala)
c.808C>G (p.Pro270Ala)
c.622C>G (p.Pro208Ala)
 dbSNP
6g.139373152G=CA1667372249CITED2c.793C= (p.Pro265=)
c.808C= (p.Pro270=)
c.622C= (p.Pro208=)
6g.139373152G>TCA365875999CITED2c.793C>A (p.Pro265Thr)
c.808C>A (p.Pro270Thr)
c.622C>A (p.Pro208Thr)
6g.139373156_139373158dupCA16621848CITED2c.791_793dup (p.Gln264_Pro265insGln)
c.806_808dup (p.Gln269_Pro270insGln)
c.620_622dup (p.Gln207_Pro208insGln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.139373156_139373158delCA819731686CITED2c.791_793del (p.Gln264del)
c.806_808del (p.Gln269del)
c.620_622del (p.Gln207del)
 dbSNP gnomAD v3 gnomAD v4
6g.139373153C>ACA148813781CITED2c.792G>T (p.Gln264His)
c.807G>T (p.Gln269His)
c.621G>T (p.Gln207His)
 dbSNP
6g.139373153C=CA1667372250CITED2c.792G= (p.Gln264=)
c.807G= (p.Gln269=)
c.621G= (p.Gln207=)
6g.139373153C>GCA365876003CITED2c.792G>C (p.Gln264His)
c.807G>C (p.Gln269His)
c.621G>C (p.Gln207His)
 gnomAD v4
6g.139373153C>TCA452441104CITED2c.792G>A (p.Gln264=)
c.807G>A (p.Gln269=)
c.621G>A (p.Gln207=)
 dbSNP
6g.139373154T>ACA365876004CITED2c.791A>T (p.Gln264Leu)
c.806A>T (p.Gln269Leu)
c.620A>T (p.Gln207Leu)
6g.139373154T>CCA365876005CITED2c.791A>G (p.Gln264Arg)
c.806A>G (p.Gln269Arg)
c.620A>G (p.Gln207Arg)
6g.139373154T>GCA365876006CITED2c.791A>C (p.Gln264Pro)
c.806A>C (p.Gln269Pro)
c.620A>C (p.Gln207Pro)
 gnomAD v4
6g.139373155G>ACA365876008CITED2c.790C>T (p.Gln264Ter)
c.805C>T (p.Gln269Ter)
c.619C>T (p.Gln207Ter)
6g.139373155G>CCA365876011CITED2c.790C>G (p.Gln264Glu)
c.805C>G (p.Gln269Glu)
c.619C>G (p.Gln207Glu)
6g.139373155G>TCA365876012CITED2c.790C>A (p.Gln264Lys)
c.805C>A (p.Gln269Lys)
c.619C>A (p.Gln207Lys)
6g.139373156C>ACA365876014CITED2c.789G>T (p.Gln263His)
c.804G>T (p.Gln268His)
c.618G>T (p.Gln206His)
6g.139373156C>GCA365876016CITED2c.789G>C (p.Gln263His)
c.804G>C (p.Gln268His)
c.618G>C (p.Gln206His)
6g.139373156C>TCA452441108CITED2c.789G>A (p.Gln263=)
c.804G>A (p.Gln268=)
c.618G>A (p.Gln206=)
 gnomAD v4
6g.139373157T>ACA365876018CITED2c.788A>T (p.Gln263Leu)
c.803A>T (p.Gln268Leu)
c.617A>T (p.Gln206Leu)
6g.139373157T>CCA365876019CITED2c.788A>G (p.Gln263Arg)
c.803A>G (p.Gln268Arg)
c.617A>G (p.Gln206Arg)
6g.139373157T>GCA365876021CITED2c.788A>C (p.Gln263Pro)
c.803A>C (p.Gln268Pro)
c.617A>C (p.Gln206Pro)
6g.139373158G>ACA365876024CITED2c.787C>T (p.Gln263Ter)
c.802C>T (p.Gln268Ter)
c.616C>T (p.Gln206Ter)
6g.139373158G>CCA365876025CITED2c.787C>G (p.Gln263Glu)
c.802C>G (p.Gln268Glu)
c.616C>G (p.Gln206Glu)
6g.139373158G>TCA365876027CITED2c.787C>A (p.Gln263Lys)
c.802C>A (p.Gln268Lys)
c.616C>A (p.Gln206Lys)
6g.139373159T>ACA365876029CITED2c.786A>T (p.Lys262Asn)
c.801A>T (p.Lys267Asn)
c.615A>T (p.Lys205Asn)
6g.139373159T>CCA452441110CITED2c.786A>G (p.Lys262=)
c.801A>G (p.Lys267=)
c.615A>G (p.Lys205=)
 dbSNP gnomAD v2 gnomAD v4
6g.139373159T>GCA365876031CITED2c.786A>C (p.Lys262Asn)
c.801A>C (p.Lys267Asn)
c.615A>C (p.Lys205Asn)
6g.139373159T=CA1667372251CITED2c.786A= (p.Lys262=)
c.801A= (p.Lys267=)
c.615A= (p.Lys205=)
6g.139373160T>ACA365876033CITED2c.785A>T (p.Lys262Ile)
c.800A>T (p.Lys267Ile)
c.614A>T (p.Lys205Ile)
6g.139373160T>CCA365876035CITED2c.785A>G (p.Lys262Arg)
c.800A>G (p.Lys267Arg)
c.614A>G (p.Lys205Arg)
6g.139373160T>GCA365876036CITED2c.785A>C (p.Lys262Thr)
c.800A>C (p.Lys267Thr)
c.614A>C (p.Lys205Thr)
 gnomAD v4
6g.139373161T>ACA365876038CITED2c.784A>T (p.Lys262Ter)
c.799A>T (p.Lys267Ter)
c.613A>T (p.Lys205Ter)
6g.139373161T>CCA365876042CITED2c.784A>G (p.Lys262Glu)
c.799A>G (p.Lys267Glu)
c.613A>G (p.Lys205Glu)
6g.139373161T>GCA365876040CITED2c.784A>C (p.Lys262Gln)
c.799A>C (p.Lys267Gln)
c.613A>C (p.Lys205Gln)
6g.139373162G>ACA452441111CITED2c.783C>T (p.Cys261=)
c.798C>T (p.Cys266=)
c.612C>T (p.Cys204=)
 gnomAD v4
6g.139373162G>CCA365876045CITED2c.783C>G (p.Cys261Trp)
c.798C>G (p.Cys266Trp)
c.612C>G (p.Cys204Trp)
6g.139373162G>TCA365876047CITED2c.783C>A (p.Cys261Ter)
c.798C>A (p.Cys266Ter)
c.612C>A (p.Cys204Ter)
6g.139373163C>ACA365876049CITED2c.782G>T (p.Cys261Phe)
c.797G>T (p.Cys266Phe)
c.611G>T (p.Cys204Phe)
6g.139373163C=CA1667372252CITED2c.782G= (p.Cys261=)
c.797G= (p.Cys266=)
c.611G= (p.Cys204=)
6g.139373163C>GCA365876052CITED2c.782G>C (p.Cys261Ser)
c.797G>C (p.Cys266Ser)
c.611G>C (p.Cys204Ser)
6g.139373163C>TCA365876051CITED2c.782G>A (p.Cys261Tyr)
c.797G>A (p.Cys266Tyr)
c.611G>A (p.Cys204Tyr)
 dbSNP
6g.139373164A>CCA365876053CITED2c.781T>G (p.Cys261Gly)
c.796T>G (p.Cys266Gly)
c.610T>G (p.Cys204Gly)
6g.139373164A>GCA365876054CITED2c.781T>C (p.Cys261Arg)
c.796T>C (p.Cys266Arg)
c.610T>C (p.Cys204Arg)
6g.139373164A>TCA365876056CITED2c.781T>A (p.Cys261Ser)
c.796T>A (p.Cys266Ser)
c.610T>A (p.Cys204Ser)
6g.139373165C>ACA452441120CITED2c.780G>T (p.Val260=)
c.795G>T (p.Val265=)
c.609G>T (p.Val203=)
6g.139373165C>GCA452441118CITED2c.780G>C (p.Val260=)
c.795G>C (p.Val265=)
c.609G>C (p.Val203=)
6g.139373165C>TCA452441117CITED2c.780G>A (p.Val260=)
c.795G>A (p.Val265=)
c.609G>A (p.Val203=)
6g.139373166A>CCA365876058CITED2c.779T>G (p.Val260Gly)
c.794T>G (p.Val265Gly)
c.608T>G (p.Val203Gly)
 gnomAD v4
6g.139373166A>GCA365876060CITED2c.779T>C (p.Val260Ala)
c.794T>C (p.Val265Ala)
c.608T>C (p.Val203Ala)
 gnomAD v4
6g.139373166A>TCA365876062CITED2c.779T>A (p.Val260Glu)
c.794T>A (p.Val265Glu)
c.608T>A (p.Val203Glu)
6g.139373166_139373168delinsACGCA1667372253CITED2c.777_779delinsCGT (p.Phe259=)
c.792_794delinsCGT (p.Phe264=)
c.606_608delinsCGT (p.Phe202=)
6g.139373167C>ACA365876067CITED2c.778G>T (p.Val260Leu)
c.793G>T (p.Val265Leu)
c.607G>T (p.Val203Leu)
6g.139373167C>GCA365876064CITED2c.778G>C (p.Val260Leu)
c.793G>C (p.Val265Leu)
c.607G>C (p.Val203Leu)
6g.139373167C>TCA365876066CITED2c.778G>A (p.Val260Met)
c.793G>A (p.Val265Met)
c.607G>A (p.Val203Met)
6g.139373167_139373168delCA1667372254CITED2c.777_778del (p.Cys261GlnfsTer?)
c.792_793del (p.Cys266GlnfsTer?)
c.606_607del (p.Cys204GlnfsTer?)
 dbSNP
6g.139373168G>ACA452441124CITED2c.777C>T (p.Phe259=)
c.792C>T (p.Phe264=)
c.606C>T (p.Phe202=)
 ClinVar dbSNP gnomAD v4
6g.139373168G>CCA365876069CITED2c.777C>G (p.Phe259Leu)
c.792C>G (p.Phe264Leu)
c.606C>G (p.Phe202Leu)
 gnomAD v4
6g.139373168G=CA1667372255CITED2c.777C= (p.Phe259=)
c.792C= (p.Phe264=)
c.606C= (p.Phe202=)
6g.139373168G>TCA4025522CITED2c.777C>A (p.Phe259Leu)
c.792C>A (p.Phe264Leu)
c.606C>A (p.Phe202Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373169A=CA1667372256CITED2c.776T= (p.Phe259=)
c.791T= (p.Phe264=)
c.605T= (p.Phe202=)
6g.139373169A>CCA365876072CITED2c.776T>G (p.Phe259Cys)
c.791T>G (p.Phe264Cys)
c.605T>G (p.Phe202Cys)
6g.139373169A>GCA148813782CITED2c.776T>C (p.Phe259Ser)
c.791T>C (p.Phe264Ser)
c.605T>C (p.Phe202Ser)
 dbSNP
6g.139373169A>TCA365876075CITED2c.776T>A (p.Phe259Tyr)
c.791T>A (p.Phe264Tyr)
c.605T>A (p.Phe202Tyr)
 dbSNP gnomAD v4
6g.139373170A>CCA365876078CITED2c.775T>G (p.Phe259Val)
c.790T>G (p.Phe264Val)
c.604T>G (p.Phe202Val)
6g.139373170A>GCA365876082CITED2c.775T>C (p.Phe259Leu)
c.790T>C (p.Phe264Leu)
c.604T>C (p.Phe202Leu)
6g.139373170A>TCA365876080CITED2c.775T>A (p.Phe259Ile)
c.790T>A (p.Phe264Ile)
c.604T>A (p.Phe202Ile)
6g.139373171G>ACA452441129CITED2c.774C>T (p.Asp258=)
c.789C>T (p.Asp263=)
c.603C>T (p.Asp201=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373171G>CCA365876084CITED2c.774C>G (p.Asp258Glu)
c.789C>G (p.Asp263Glu)
c.603C>G (p.Asp201Glu)
 dbSNP gnomAD v3 gnomAD v4
6g.139373171G=CA1667372257CITED2c.774C= (p.Asp258=)
c.789C= (p.Asp263=)
c.603C= (p.Asp201=)
6g.139373171G>TCA365876085CITED2c.774C>A (p.Asp258Glu)
c.789C>A (p.Asp263Glu)
c.603C>A (p.Asp201Glu)
6g.139373172T>ACA365876086CITED2c.773A>T (p.Asp258Val)
c.788A>T (p.Asp263Val)
c.602A>T (p.Asp201Val)
6g.139373172T>CCA365876088CITED2c.773A>G (p.Asp258Gly)
c.788A>G (p.Asp263Gly)
c.602A>G (p.Asp201Gly)
6g.139373172T>GCA365876089CITED2c.773A>C (p.Asp258Ala)
c.788A>C (p.Asp263Ala)
c.602A>C (p.Asp201Ala)
6g.139373173C>ACA365876091CITED2c.772G>T (p.Asp258Tyr)
c.787G>T (p.Asp263Tyr)
c.601G>T (p.Asp201Tyr)
6g.139373173C>GCA365876093CITED2c.772G>C (p.Asp258His)
c.787G>C (p.Asp263His)
c.601G>C (p.Asp201His)
6g.139373173C>TCA365876095CITED2c.772G>A (p.Asp258Asn)
c.787G>A (p.Asp263Asn)
c.601G>A (p.Asp201Asn)
6g.139373174C>ACA452441132CITED2c.771G>T (p.Thr257=)
c.786G>T (p.Thr262=)
c.600G>T (p.Thr200=)
6g.139373174C>GCA452441133CITED2c.771G>C (p.Thr257=)
c.786G>C (p.Thr262=)
c.600G>C (p.Thr200=)
 gnomAD v4
6g.139373174C>TCA452441134CITED2c.771G>A (p.Thr257=)
c.786G>A (p.Thr262=)
c.600G>A (p.Thr200=)
6g.139373175G>ACA365876097CITED2c.770C>T (p.Thr257Met)
c.785C>T (p.Thr262Met)
c.599C>T (p.Thr200Met)
 gnomAD v4
6g.139373175G>CCA365876099CITED2c.770C>G (p.Thr257Arg)
c.785C>G (p.Thr262Arg)
c.599C>G (p.Thr200Arg)
 gnomAD v4
6g.139373175G>TCA365876100CITED2c.770C>A (p.Thr257Lys)
c.785C>A (p.Thr262Lys)
c.599C>A (p.Thr200Lys)
6g.139373176T>ACA365876101CITED2c.769A>T (p.Thr257Ser)
c.784A>T (p.Thr262Ser)
c.598A>T (p.Thr200Ser)
 gnomAD v4
6g.139373176T>CCA4025523CITED2c.769A>G (p.Thr257Ala)
c.784A>G (p.Thr262Ala)
c.598A>G (p.Thr200Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373176T>GCA365876102CITED2c.769A>C (p.Thr257Pro)
c.784A>C (p.Thr262Pro)
c.598A>C (p.Thr200Pro)
6g.139373176T=CA1667372258CITED2c.769A= (p.Thr257=)
c.784A= (p.Thr262=)
c.598A= (p.Thr200=)
6g.139373177C>ACA365876105CITED2c.768G>T (p.Met256Ile)
c.783G>T (p.Met261Ile)
c.597G>T (p.Met199Ile)
6g.139373177C>GCA365876106CITED2c.768G>C (p.Met256Ile)
c.783G>C (p.Met261Ile)
c.597G>C (p.Met199Ile)
6g.139373177C>TCA365876108CITED2c.768G>A (p.Met256Ile)
c.783G>A (p.Met261Ile)
c.597G>A (p.Met199Ile)
6g.139373178A=CA1667372259CITED2c.767T= (p.Met256=)
c.782T= (p.Met261=)
c.596T= (p.Met199=)
6g.139373178A>CCA365876111CITED2c.767T>G (p.Met256Arg)
c.782T>G (p.Met261Arg)
c.596T>G (p.Met199Arg)
6g.139373178A>GCA4025524CITED2c.767T>C (p.Met256Thr)
c.782T>C (p.Met261Thr)
c.596T>C (p.Met199Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373178A>TCA365876113CITED2c.767T>A (p.Met256Lys)
c.782T>A (p.Met261Lys)
c.596T>A (p.Met199Lys)
6g.139373179T>ACA365876115CITED2c.766A>T (p.Met256Leu)
c.781A>T (p.Met261Leu)
c.595A>T (p.Met199Leu)
 gnomAD v4
6g.139373179T>CCA365876116CITED2c.766A>G (p.Met256Val)
c.781A>G (p.Met261Val)
c.595A>G (p.Met199Val)
 gnomAD v4
6g.139373179T>GCA365876117CITED2c.766A>C (p.Met256Leu)
c.781A>C (p.Met261Leu)
c.595A>C (p.Met199Leu)
6g.139373180A=CA1667372260CITED2c.765T= (p.Phe255=)
c.780T= (p.Phe260=)
c.594T= (p.Phe198=)
6g.139373180A>CCA365876120CITED2c.765T>G (p.Phe255Leu)
c.780T>G (p.Phe260Leu)
c.594T>G (p.Phe198Leu)
 dbSNP
6g.139373180A>GCA452441139CITED2c.765T>C (p.Phe255=)
c.780T>C (p.Phe260=)
c.594T>C (p.Phe198=)
6g.139373180A>TCA365876121CITED2c.765T>A (p.Phe255Leu)
c.780T>A (p.Phe260Leu)
c.594T>A (p.Phe198Leu)
6g.139373181A>CCA365876126CITED2c.764T>G (p.Phe255Cys)
c.779T>G (p.Phe260Cys)
c.593T>G (p.Phe198Cys)
6g.139373181A>GCA365876123CITED2c.764T>C (p.Phe255Ser)
c.779T>C (p.Phe260Ser)
c.593T>C (p.Phe198Ser)
 gnomAD v4
6g.139373181A>TCA365876124CITED2c.764T>A (p.Phe255Tyr)
c.779T>A (p.Phe260Tyr)
c.593T>A (p.Phe198Tyr)
6g.139373182A>CCA365876128CITED2c.763T>G (p.Phe255Val)
c.778T>G (p.Phe260Val)
c.592T>G (p.Phe198Val)
6g.139373182A>GCA365876130CITED2c.763T>C (p.Phe255Leu)
c.778T>C (p.Phe260Leu)
c.592T>C (p.Phe198Leu)
6g.139373182A>TCA365876132CITED2c.763T>A (p.Phe255Ile)
c.778T>A (p.Phe260Ile)
c.592T>A (p.Phe198Ile)
6g.139373183A=CA1667372261CITED2c.762T= (p.Asp254=)
c.777T= (p.Asp259=)
c.591T= (p.Asp197=)
6g.139373183A>CCA365876133CITED2c.762T>G (p.Asp254Glu)
c.777T>G (p.Asp259Glu)
c.591T>G (p.Asp197Glu)
6g.139373183A>GCA148813783CITED2c.762T>C (p.Asp254=)
c.777T>C (p.Asp259=)
c.591T>C (p.Asp197=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373183A>TCA365876135CITED2c.762T>A (p.Asp254Glu)
c.777T>A (p.Asp259Glu)
c.591T>A (p.Asp197Glu)
6g.139373183_139373184insACCAAACACACCCAACCA2773276761CITED2c.761_762insGTTGGGTGTGTTTGGT (p.Asp254GlufsTer?)
c.776_777insGTTGGGTGTGTTTGGT (p.Asp259GlufsTer?)
c.590_591insGTTGGGTGTGTTTGGT (p.Asp197GlufsTer?)
6g.139373184T>ACA365876138CITED2c.761A>T (p.Asp254Val)
c.776A>T (p.Asp259Val)
c.590A>T (p.Asp197Val)
6g.139373184T>CCA365876140CITED2c.761A>G (p.Asp254Gly)
c.776A>G (p.Asp259Gly)
c.590A>G (p.Asp197Gly)
6g.139373184T>GCA365876141CITED2c.761A>C (p.Asp254Ala)
c.776A>C (p.Asp259Ala)
c.590A>C (p.Asp197Ala)
6g.139373185C>ACA365876143CITED2c.760G>T (p.Asp254Tyr)
c.775G>T (p.Asp259Tyr)
c.589G>T (p.Asp197Tyr)
 gnomAD v4
6g.139373185C>GCA365876145CITED2c.760G>C (p.Asp254His)
c.775G>C (p.Asp259His)
c.589G>C (p.Asp197His)
6g.139373185C>TCA365876148CITED2c.760G>A (p.Asp254Asn)
c.775G>A (p.Asp259Asn)
c.589G>A (p.Asp197Asn)
 COSMIC
6g.139373186A=CA1667372262CITED2c.759T= (p.Phe253=)
c.774T= (p.Phe258=)
c.588T= (p.Phe196=)
6g.139373186A>CCA365876152CITED2c.759T>G (p.Phe253Leu)
c.774T>G (p.Phe258Leu)
c.588T>G (p.Phe196Leu)
6g.139373186A>GCA4025525CITED2c.759T>C (p.Phe253=)
c.774T>C (p.Phe258=)
c.588T>C (p.Phe196=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373186A>TCA365876150CITED2c.759T>A (p.Phe253Leu)
c.774T>A (p.Phe258Leu)
c.588T>A (p.Phe196Leu)
6g.139373187A>CCA365876155CITED2c.758T>G (p.Phe253Cys)
c.773T>G (p.Phe258Cys)
c.587T>G (p.Phe196Cys)
6g.139373187A>GCA365876157CITED2c.758T>C (p.Phe253Ser)
c.773T>C (p.Phe258Ser)
c.587T>C (p.Phe196Ser)
6g.139373187A>TCA365876158CITED2c.758T>A (p.Phe253Tyr)
c.773T>A (p.Phe258Tyr)
c.587T>A (p.Phe196Tyr)
 gnomAD v4
6g.139373188A>CCA365876160CITED2c.757T>G (p.Phe253Val)
c.772T>G (p.Phe258Val)
c.586T>G (p.Phe196Val)
6g.139373188A>GCA365876162CITED2c.757T>C (p.Phe253Leu)
c.772T>C (p.Phe258Leu)
c.586T>C (p.Phe196Leu)
6g.139373188A>TCA365876164CITED2c.757T>A (p.Phe253Ile)
c.772T>A (p.Phe258Ile)
c.586T>A (p.Phe196Ile)
6g.139373189C>ACA365876167CITED2c.756G>T (p.Glu252Asp)
c.771G>T (p.Glu257Asp)
c.585G>T (p.Glu195Asp)
6g.139373189C>GCA365876168CITED2c.756G>C (p.Glu252Asp)
c.771G>C (p.Glu257Asp)
c.585G>C (p.Glu195Asp)
6g.139373189C>TCA452441153CITED2c.756G>A (p.Glu252=)
c.771G>A (p.Glu257=)
c.585G>A (p.Glu195=)
6g.139373190T>ACA365876169CITED2c.755A>T (p.Glu252Val)
c.770A>T (p.Glu257Val)
c.584A>T (p.Glu195Val)
6g.139373190T>CCA365876171CITED2c.755A>G (p.Glu252Gly)
c.770A>G (p.Glu257Gly)
c.584A>G (p.Glu195Gly)
6g.139373190T>GCA365876173CITED2c.755A>C (p.Glu252Ala)
c.770A>C (p.Glu257Ala)
c.584A>C (p.Glu195Ala)
6g.139373191C>ACA365876175CITED2c.754G>T (p.Glu252Ter)
c.769G>T (p.Glu257Ter)
c.583G>T (p.Glu195Ter)
 ClinVar
6g.139373191C>GCA365876176CITED2c.754G>C (p.Glu252Gln)
c.769G>C (p.Glu257Gln)
c.583G>C (p.Glu195Gln)
6g.139373191C>TCA365876178CITED2c.754G>A (p.Glu252Lys)
c.769G>A (p.Glu257Lys)
c.583G>A (p.Glu195Lys)
6g.139373192G>ACA452441160CITED2c.753C>T (p.Asn251=)
c.768C>T (p.Asn256=)
c.582C>T (p.Asn194=)
 dbSNP gnomAD v4
6g.139373192G>CCA365876187CITED2c.753C>G (p.Asn251Lys)
c.768C>G (p.Asn256Lys)
c.582C>G (p.Asn194Lys)
6g.139373192G=CA1667372263CITED2c.753C= (p.Asn251=)
c.768C= (p.Asn256=)
c.582C= (p.Asn194=)
6g.139373192G>TCA365876181CITED2c.753C>A (p.Asn251Lys)
c.768C>A (p.Asn256Lys)
c.582C>A (p.Asn194Lys)
6g.139373193T>ACA365876189CITED2c.752A>T (p.Asn251Ile)
c.767A>T (p.Asn256Ile)
c.581A>T (p.Asn194Ile)
6g.139373193T>CCA365876191CITED2c.752A>G (p.Asn251Ser)
c.767A>G (p.Asn256Ser)
c.581A>G (p.Asn194Ser)
6g.139373193T>GCA365876192CITED2c.752A>C (p.Asn251Thr)
c.767A>C (p.Asn256Thr)
c.581A>C (p.Asn194Thr)
6g.139373194T>ACA365876194CITED2c.751A>T (p.Asn251Tyr)
c.766A>T (p.Asn256Tyr)
c.580A>T (p.Asn194Tyr)
6g.139373194T>CCA365876196CITED2c.751A>G (p.Asn251Asp)
c.766A>G (p.Asn256Asp)
c.580A>G (p.Asn194Asp)
6g.139373194T>GCA365876198CITED2c.751A>C (p.Asn251His)
c.766A>C (p.Asn256His)
c.580A>C (p.Asn194His)
6g.139373196_139373211delCA645548028CITED2c.736_751del (p.Leu246ThrfsTer6)
c.751_766del (p.Leu251ThrfsTer6)
c.565_580del (p.Leu189ThrfsTer6)
 COSMIC
6g.139373195T>ACA365876206CITED2c.750A>T (p.Gln250His)
c.765A>T (p.Gln255His)
c.579A>T (p.Gln193His)
6g.139373195T>CCA452441166CITED2c.750A>G (p.Gln250=)
c.765A>G (p.Gln255=)
c.579A>G (p.Gln193=)
6g.139373195T>GCA365876200CITED2c.750A>C (p.Gln250His)
c.765A>C (p.Gln255His)
c.579A>C (p.Gln193His)
6g.139373196T>ACA365876207CITED2c.749A>T (p.Gln250Leu)
c.764A>T (p.Gln255Leu)
c.578A>T (p.Gln193Leu)
6g.139373196T>CCA365876209CITED2c.749A>G (p.Gln250Arg)
c.764A>G (p.Gln255Arg)
c.578A>G (p.Gln193Arg)
6g.139373196T>GCA365876211CITED2c.749A>C (p.Gln250Pro)
c.764A>C (p.Gln255Pro)
c.578A>C (p.Gln193Pro)
6g.139373197G>ACA365876214CITED2c.748C>T (p.Gln250Ter)
c.763C>T (p.Gln255Ter)
c.577C>T (p.Gln193Ter)
6g.139373197G>CCA365876216CITED2c.748C>G (p.Gln250Glu)
c.763C>G (p.Gln255Glu)
c.577C>G (p.Gln193Glu)
6g.139373197G>TCA365876218CITED2c.748C>A (p.Gln250Lys)
c.763C>A (p.Gln255Lys)
c.577C>A (p.Gln193Lys)
6g.139373198C>ACA452441168CITED2c.747G>T (p.Gly249=)
c.762G>T (p.Gly254=)
c.576G>T (p.Gly192=)
6g.139373198C>GCA452441173CITED2c.747G>C (p.Gly249=)
c.762G>C (p.Gly254=)
c.576G>C (p.Gly192=)
 COSMIC
6g.139373198C>TCA452441171CITED2c.747G>A (p.Gly249=)
c.762G>A (p.Gly254=)
c.576G>A (p.Gly192=)
 gnomAD v4
6g.139373199C>ACA365876219CITED2c.746G>T (p.Gly249Val)
c.761G>T (p.Gly254Val)
c.575G>T (p.Gly192Val)
6g.139373199C>GCA365876221CITED2c.746G>C (p.Gly249Ala)
c.761G>C (p.Gly254Ala)
c.575G>C (p.Gly192Ala)
6g.139373199C>TCA365876220CITED2c.746G>A (p.Gly249Glu)
c.761G>A (p.Gly254Glu)
c.575G>A (p.Gly192Glu)
 gnomAD v4
6g.139373200C>ACA365876222CITED2c.745G>T (p.Gly249Trp)
c.760G>T (p.Gly254Trp)
c.574G>T (p.Gly192Trp)
6g.139373200C>GCA365876223CITED2c.745G>C (p.Gly249Arg)
c.760G>C (p.Gly254Arg)
c.574G>C (p.Gly192Arg)
6g.139373200C>TCA365876224CITED2c.745G>A (p.Gly249Arg)
c.760G>A (p.Gly254Arg)
c.574G>A (p.Gly192Arg)
6g.139373201C>ACA452441174CITED2c.744G>T (p.Leu248=)
c.759G>T (p.Leu253=)
c.573G>T (p.Leu191=)
6g.139373201C>GCA452441175CITED2c.744G>C (p.Leu248=)
c.759G>C (p.Leu253=)
c.573G>C (p.Leu191=)
6g.139373201C>TCA452441177CITED2c.744G>A (p.Leu248=)
c.759G>A (p.Leu253=)
c.573G>A (p.Leu191=)
6g.139373202_139373204delCA2713330363CITED2c.742_744del (p.Leu248del)
c.757_759del (p.Leu253del)
c.571_573del (p.Leu191del)
 dbSNP
6g.139373202A>CCA365876227CITED2c.743T>G (p.Leu248Arg)
c.758T>G (p.Leu253Arg)
c.572T>G (p.Leu191Arg)
6g.139373202A>GCA365876229CITED2c.743T>C (p.Leu248Pro)
c.758T>C (p.Leu253Pro)
c.572T>C (p.Leu191Pro)
6g.139373202A>TCA365876230CITED2c.743T>A (p.Leu248Gln)
c.758T>A (p.Leu253Gln)
c.572T>A (p.Leu191Gln)
6g.139373203G>ACA4025526CITED2c.742C>T (p.Leu248=)
c.757C>T (p.Leu253=)
c.571C>T (p.Leu191=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373203G>CCA365876231CITED2c.742C>G (p.Leu248Val)
c.757C>G (p.Leu253Val)
c.571C>G (p.Leu191Val)
6g.139373203G=CA1667372264CITED2c.742C= (p.Leu248=)
c.757C= (p.Leu253=)
c.571C= (p.Leu191=)
6g.139373203G>TCA365876232CITED2c.742C>A (p.Leu248Met)
c.757C>A (p.Leu253Met)
c.571C>A (p.Leu191Met)
6g.139373204C>ACA365876234CITED2c.741G>T (p.Trp247Cys)
c.756G>T (p.Trp252Cys)
c.570G>T (p.Trp190Cys)
6g.139373204C=CA1667372265CITED2c.741G= (p.Trp247=)
c.756G= (p.Trp252=)
c.570G= (p.Trp190=)
6g.139373204C>GCA365876236CITED2c.741G>C (p.Trp247Cys)
c.756G>C (p.Trp252Cys)
c.570G>C (p.Trp190Cys)
6g.139373204C>TCA148813784CITED2c.741G>A (p.Trp247Ter)
c.756G>A (p.Trp252Ter)
c.570G>A (p.Trp190Ter)
 dbSNP
6g.139373205C>ACA365876242CITED2c.740G>T (p.Trp247Leu)
c.755G>T (p.Trp252Leu)
c.569G>T (p.Trp190Leu)
6g.139373205C>GCA365876240CITED2c.740G>C (p.Trp247Ser)
c.755G>C (p.Trp252Ser)
c.569G>C (p.Trp190Ser)
6g.139373205C>TCA365876238CITED2c.740G>A (p.Trp247Ter)
c.755G>A (p.Trp252Ter)
c.569G>A (p.Trp190Ter)
6g.139373206A=CA1667372266CITED2c.739T= (p.Trp247=)
c.754T= (p.Trp252=)
c.568T= (p.Trp190=)
6g.139373206A>CCA365876247CITED2c.739T>G (p.Trp247Gly)
c.754T>G (p.Trp252Gly)
c.568T>G (p.Trp190Gly)
6g.139373206A>GCA365876248CITED2c.739T>C (p.Trp247Arg)
c.754T>C (p.Trp252Arg)
c.568T>C (p.Trp190Arg)
 dbSNP gnomAD v2 gnomAD v4
6g.139373206A>TCA365876249CITED2c.739T>A (p.Trp247Arg)
c.754T>A (p.Trp252Arg)
c.568T>A (p.Trp190Arg)
6g.139373207G>ACA148813785CITED2c.738C>T (p.Leu246=)
c.753C>T (p.Leu251=)
c.567C>T (p.Leu189=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.139373207G>CCA452441183CITED2c.738C>G (p.Leu246=)
c.753C>G (p.Leu251=)
c.567C>G (p.Leu189=)
6g.139373207G=CA1667372267CITED2c.738C= (p.Leu246=)
c.753C= (p.Leu251=)
c.567C= (p.Leu189=)
6g.139373207G>TCA452441184CITED2c.738C>A (p.Leu246=)
c.753C>A (p.Leu251=)
c.567C>A (p.Leu189=)
6g.139373208A>CCA365876253CITED2c.737T>G (p.Leu246Arg)
c.752T>G (p.Leu251Arg)
c.566T>G (p.Leu189Arg)
6g.139373208A>GCA365876255CITED2c.737T>C (p.Leu246Pro)
c.752T>C (p.Leu251Pro)
c.566T>C (p.Leu189Pro)
6g.139373208A>TCA365876257CITED2c.737T>A (p.Leu246His)
c.752T>A (p.Leu251His)
c.566T>A (p.Leu189His)
6g.139373209G>ACA4025527CITED2c.736C>T (p.Leu246Phe)
c.751C>T (p.Leu251Phe)
c.565C>T (p.Leu189Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373209G>CCA365876259CITED2c.736C>G (p.Leu246Val)
c.751C>G (p.Leu251Val)
c.565C>G (p.Leu189Val)
6g.139373209G=CA1667372268CITED2c.736C= (p.Leu246=)
c.751C= (p.Leu251=)
c.565C= (p.Leu189=)
6g.139373209G>TCA365876260CITED2c.736C>A (p.Leu246Ile)
c.751C>A (p.Leu251Ile)
c.565C>A (p.Leu189Ile)
6g.139373210T>ACA365876261CITED2c.735A>T (p.Glu245Asp)
c.750A>T (p.Glu250Asp)
c.564A>T (p.Glu188Asp)
6g.139373210T>CCA452441191CITED2c.735A>G (p.Glu245=)
c.750A>G (p.Glu250=)
c.564A>G (p.Glu188=)
6g.139373210T>GCA365876264CITED2c.735A>C (p.Glu245Asp)
c.750A>C (p.Glu250Asp)
c.564A>C (p.Glu188Asp)
6g.139373211T>ACA365876271CITED2c.734A>T (p.Glu245Val)
c.749A>T (p.Glu250Val)
c.563A>T (p.Glu188Val)
6g.139373211T>CCA365876268CITED2c.734A>G (p.Glu245Gly)
c.749A>G (p.Glu250Gly)
c.563A>G (p.Glu188Gly)
6g.139373211T>GCA365876266CITED2c.734A>C (p.Glu245Ala)
c.749A>C (p.Glu250Ala)
c.563A>C (p.Glu188Ala)
6g.139373212C>ACA365876273CITED2c.733G>T (p.Glu245Ter)
c.748G>T (p.Glu250Ter)
c.562G>T (p.Glu188Ter)
6g.139373212C>GCA365876277CITED2c.733G>C (p.Glu245Gln)
c.748G>C (p.Glu250Gln)
c.562G>C (p.Glu188Gln)
6g.139373212C>TCA365876275CITED2c.733G>A (p.Glu245Lys)
c.748G>A (p.Glu250Lys)
c.562G>A (p.Glu188Lys)
 COSMIC
6g.139373213G>ACA452441197CITED2c.732C>T (p.Pro244=)
c.747C>T (p.Pro249=)
c.561C>T (p.Pro187=)
 dbSNP gnomAD v2 gnomAD v4
6g.139373213G>CCA452441201CITED2c.732C>G (p.Pro244=)
c.747C>G (p.Pro249=)
c.561C>G (p.Pro187=)
 gnomAD v4
6g.139373213G=CA1667372269CITED2c.732C= (p.Pro244=)
c.747C= (p.Pro249=)
c.561C= (p.Pro187=)
6g.139373213G>TCA452441200CITED2c.732C>A (p.Pro244=)
c.747C>A (p.Pro249=)
c.561C>A (p.Pro187=)
6g.139373214G>ACA365876279CITED2c.731C>T (p.Pro244Leu)
c.746C>T (p.Pro249Leu)
c.560C>T (p.Pro187Leu)
 gnomAD v4
6g.139373214G>CCA365876282CITED2c.731C>G (p.Pro244Arg)
c.746C>G (p.Pro249Arg)
c.560C>G (p.Pro187Arg)
6g.139373214G>TCA365876280CITED2c.731C>A (p.Pro244His)
c.746C>A (p.Pro249His)
c.560C>A (p.Pro187His)
6g.139373215G>ACA365876284CITED2c.730C>T (p.Pro244Ser)
c.745C>T (p.Pro249Ser)
c.559C>T (p.Pro187Ser)
6g.139373215G>CCA365876286CITED2c.730C>G (p.Pro244Ala)
c.745C>G (p.Pro249Ala)
c.559C>G (p.Pro187Ala)
6g.139373215G>TCA365876288CITED2c.730C>A (p.Pro244Thr)
c.745C>A (p.Pro249Thr)
c.559C>A (p.Pro187Thr)
6g.139373216C>ACA4025528CITED2c.729G>T (p.Leu243=)
c.744G>T (p.Leu248=)
c.558G>T (p.Leu186=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.139373216C=CA1667372270CITED2c.729G= (p.Leu243=)
c.744G= (p.Leu248=)
c.558G= (p.Leu186=)
6g.139373216C>GCA452441207CITED2c.729G>C (p.Leu243=)
c.744G>C (p.Leu248=)
c.558G>C (p.Leu186=)
6g.139373216C>TCA452441209CITED2c.729G>A (p.Leu243=)
c.744G>A (p.Leu248=)
c.558G>A (p.Leu186=)
6g.139373217A>CCA365876291CITED2c.728T>G (p.Leu243Arg)
c.743T>G (p.Leu248Arg)
c.557T>G (p.Leu186Arg)
6g.139373217A>GCA365876293CITED2c.728T>C (p.Leu243Pro)
c.743T>C (p.Leu248Pro)
c.557T>C (p.Leu186Pro)
6g.139373217A>TCA365876295CITED2c.728T>A (p.Leu243Gln)
c.743T>A (p.Leu248Gln)
c.557T>A (p.Leu186Gln)
6g.139373218G>ACA452441212CITED2c.727C>T (p.Leu243=)
c.742C>T (p.Leu248=)
c.556C>T (p.Leu186=)
 gnomAD v4
6g.139373218G>CCA365876297CITED2c.727C>G (p.Leu243Val)
c.742C>G (p.Leu248Val)
c.556C>G (p.Leu186Val)
6g.139373218G>TCA365876299CITED2c.727C>A (p.Leu243Met)
c.742C>A (p.Leu248Met)
c.556C>A (p.Leu186Met)
6g.139373219C>ACA365876300CITED2c.726G>T (p.Glu242Asp)
c.741G>T (p.Glu247Asp)
c.555G>T (p.Glu185Asp)
6g.139373219C>GCA365876302CITED2c.726G>C (p.Glu242Asp)
c.741G>C (p.Glu247Asp)
c.555G>C (p.Glu185Asp)
 gnomAD v4
6g.139373219C>TCA452441216CITED2c.726G>A (p.Glu242=)
c.741G>A (p.Glu247=)
c.555G>A (p.Glu185=)
 gnomAD v4
6g.139373220T>ACA365876305CITED2c.725A>T (p.Glu242Val)
c.740A>T (p.Glu247Val)
c.554A>T (p.Glu185Val)
6g.139373220T>CCA365876309CITED2c.725A>G (p.Glu242Gly)
c.740A>G (p.Glu247Gly)
c.554A>G (p.Glu185Gly)
6g.139373220T>GCA365876307CITED2c.725A>C (p.Glu242Ala)
c.740A>C (p.Glu247Ala)
c.554A>C (p.Glu185Ala)
6g.139373221C>ACA365876311CITED2c.724G>T (p.Glu242Ter)
c.739G>T (p.Glu247Ter)
c.553G>T (p.Glu185Ter)
6g.139373221C=CA1667372271CITED2c.724G= (p.Glu242=)
c.739G= (p.Glu247=)
c.553G= (p.Glu185=)
6g.139373221C>GCA365876313CITED2c.724G>C (p.Glu242Gln)
c.739G>C (p.Glu247Gln)
c.553G>C (p.Glu185Gln)
6g.139373221C>TCA365876315CITED2c.724G>A (p.Glu242Lys)
c.739G>A (p.Glu247Lys)
c.553G>A (p.Glu185Lys)
 dbSNP
6g.139373222C>ACA365876317CITED2c.723G>T (p.Lys241Asn)
c.738G>T (p.Lys246Asn)
c.552G>T (p.Lys184Asn)
6g.139373222C=CA1667372272CITED2c.723G= (p.Lys241=)
c.738G= (p.Lys246=)
c.552G= (p.Lys184=)
6g.139373222C>GCA365876319CITED2c.723G>C (p.Lys241Asn)
c.738G>C (p.Lys246Asn)
c.552G>C (p.Lys184Asn)
 gnomAD v4
6g.139373222C>TCA4025529CITED2c.723G>A (p.Lys241=)
c.738G>A (p.Lys246=)
c.552G>A (p.Lys184=)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.139373223T>ACA365876321CITED2c.722A>T (p.Lys241Met)
c.737A>T (p.Lys246Met)
c.551A>T (p.Lys184Met)
6g.139373223T>CCA365876323CITED2c.722A>G (p.Lys241Arg)
c.737A>G (p.Lys246Arg)
c.551A>G (p.Lys184Arg)
6g.139373223T>GCA365876325CITED2c.722A>C (p.Lys241Thr)
c.737A>C (p.Lys246Thr)
c.551A>C (p.Lys184Thr)
6g.139373224T>ACA365876330CITED2c.721A>T (p.Lys241Ter)
c.736A>T (p.Lys246Ter)
c.550A>T (p.Lys184Ter)
6g.139373224T>CCA365876331CITED2c.721A>G (p.Lys241Glu)
c.736A>G (p.Lys246Glu)
c.550A>G (p.Lys184Glu)
6g.139373224T>GCA365876328CITED2c.721A>C (p.Lys241Gln)
c.736A>C (p.Lys246Gln)
c.550A>C (p.Lys184Gln)
6g.139373225G>ACA452441225CITED2c.720C>T (p.Ile240=)
c.735C>T (p.Ile245=)
c.549C>T (p.Ile183=)
 dbSNP gnomAD v3 gnomAD v4
6g.139373225G>CCA365876332CITED2c.720C>G (p.Ile240Met)
c.735C>G (p.Ile245Met)
c.549C>G (p.Ile183Met)
6g.139373225G=CA1667372273CITED2c.720C= (p.Ile240=)
c.735C= (p.Ile245=)
c.549C= (p.Ile183=)
6g.139373225G>TCA452441228CITED2c.720C>A (p.Ile240=)
c.735C>A (p.Ile245=)
c.549C>A (p.Ile183=)
6g.139373226A>CCA365876335CITED2c.719T>G (p.Ile240Ser)
c.734T>G (p.Ile245Ser)
c.548T>G (p.Ile183Ser)
6g.139373226A>GCA365876336CITED2c.719T>C (p.Ile240Thr)
c.734T>C (p.Ile245Thr)
c.548T>C (p.Ile183Thr)
6g.139373226A>TCA365876338CITED2c.719T>A (p.Ile240Asn)
c.734T>A (p.Ile245Asn)
c.548T>A (p.Ile183Asn)
6g.139373227T>ACA365876341CITED2c.718A>T (p.Ile240Phe)
c.733A>T (p.Ile245Phe)
c.547A>T (p.Ile183Phe)
6g.139373227T>CCA365876342CITED2c.718A>G (p.Ile240Val)
c.733A>G (p.Ile245Val)
c.547A>G (p.Ile183Val)
6g.139373227T>GCA365876344CITED2c.718A>C (p.Ile240Leu)
c.733A>C (p.Ile245Leu)
c.547A>C (p.Ile183Leu)
6g.139373228G>ACA452441234CITED2c.717C>T (p.Arg239=)
c.732C>T (p.Arg244=)
c.546C>T (p.Arg182=)
6g.139373228G>CCA452441237CITED2c.717C>G (p.Arg239=)
c.732C>G (p.Arg244=)
c.546C>G (p.Arg182=)
6g.139373228G>TCA452441238CITED2c.717C>A (p.Arg239=)
c.732C>A (p.Arg244=)
c.546C>A (p.Arg182=)
6g.139373229delCA2680562546CITED2c.716del (p.Arg239ProfsTer18)
c.731del (p.Arg244ProfsTer18)
c.545del (p.Arg182ProfsTer18)
 gnomAD v4
6g.139373229C>ACA365876347CITED2c.716G>T (p.Arg239Leu)
c.731G>T (p.Arg244Leu)
c.545G>T (p.Arg182Leu)
6g.139373229C>GCA365876348CITED2c.716G>C (p.Arg239Pro)
c.731G>C (p.Arg244Pro)
c.545G>C (p.Arg182Pro)
6g.139373229C>TCA365876351CITED2c.716G>A (p.Arg239His)
c.731G>A (p.Arg244His)
c.545G>A (p.Arg182His)
6g.139373230G>ACA365876353CITED2c.715C>T (p.Arg239Cys)
c.730C>T (p.Arg244Cys)
c.544C>T (p.Arg182Cys)
6g.139373230G>CCA365876355CITED2c.715C>G (p.Arg239Gly)
c.730C>G (p.Arg244Gly)
c.544C>G (p.Arg182Gly)
6g.139373230G>TCA365876357CITED2c.715C>A (p.Arg239Ser)
c.730C>A (p.Arg244Ser)
c.544C>A (p.Arg182Ser)
6g.139373231G>ACA452441240CITED2c.714C>T (p.Asp238=)
c.729C>T (p.Asp243=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v4
6g.139373231G>CCA365876359CITED2c.714C>G (p.Asp238Glu)
c.729C>G (p.Asp243Glu)
c.543C>G (p.Asp181Glu)
6g.139373231G=CA1667372274CITED2c.714C= (p.Asp238=)
c.729C= (p.Asp243=)
c.543C= (p.Asp181=)
6g.139373231G>TCA365876361CITED2c.714C>A (p.Asp238Glu)
c.729C>A (p.Asp243Glu)
c.543C>A (p.Asp181Glu)
6g.139373232T>ACA365876363CITED2c.713A>T (p.Asp238Val)
c.728A>T (p.Asp243Val)
c.542A>T (p.Asp181Val)
6g.139373232T>CCA365876365CITED2c.713A>G (p.Asp238Gly)
c.728A>G (p.Asp243Gly)
c.542A>G (p.Asp181Gly)
6g.139373232T>GCA365876366CITED2c.713A>C (p.Asp238Ala)
c.728A>C (p.Asp243Ala)
c.542A>C (p.Asp181Ala)
6g.139373233C>ACA365876369CITED2c.712G>T (p.Asp238Tyr)
c.727G>T (p.Asp243Tyr)
c.541G>T (p.Asp181Tyr)
 COSMIC
6g.139373233C>GCA365876370CITED2c.712G>C (p.Asp238His)
c.727G>C (p.Asp243His)
c.541G>C (p.Asp181His)
6g.139373233C>TCA365876371CITED2c.712G>A (p.Asp238Asn)
c.727G>A (p.Asp243Asn)
c.541G>A (p.Asp181Asn)
6g.139373234C>ACA365876374CITED2c.711G>T (p.Leu237Phe)
c.726G>T (p.Leu242Phe)
c.540G>T (p.Leu180Phe)
6g.139373234C>GCA365876376CITED2c.711G>C (p.Leu237Phe)
c.726G>C (p.Leu242Phe)
c.540G>C (p.Leu180Phe)
6g.139373234C>TCA452441251CITED2c.711G>A (p.Leu237=)
c.726G>A (p.Leu242=)
c.540G>A (p.Leu180=)
6g.139373236_139373250dupCA2578756308CITED2c.697_711dup (p.Leu237_Asp238insIleGluMetGlyLeu)
c.712_726dup (p.Leu242_Asp243insIleGluMetGlyLeu)
c.526_540dup (p.Leu180_Asp181insIleGluMetGlyLeu)
6g.139373235A>CCA365876377CITED2c.710T>G (p.Leu237Trp)
c.725T>G (p.Leu242Trp)
c.539T>G (p.Leu180Trp)
6g.139373235A>GCA365876379CITED2c.710T>C (p.Leu237Ser)
c.725T>C (p.Leu242Ser)
c.539T>C (p.Leu180Ser)
6g.139373235A>TCA365876381CITED2c.710T>A (p.Leu237Ter)
c.725T>A (p.Leu242Ter)
c.539T>A (p.Leu180Ter)
6g.139373236A>CCA365876383CITED2c.709T>G (p.Leu237Val)
c.724T>G (p.Leu242Val)
c.538T>G (p.Leu180Val)
6g.139373236A>GCA452441254CITED2c.709T>C (p.Leu237=)
c.724T>C (p.Leu242=)
c.538T>C (p.Leu180=)
6g.139373236A>TCA365876384CITED2c.709T>A (p.Leu237Met)
c.724T>A (p.Leu242Met)
c.538T>A (p.Leu180Met)
6g.139373237A>CCA452441262CITED2c.708T>G (p.Gly236=)
c.723T>G (p.Gly241=)
c.537T>G (p.Gly179=)
 COSMIC
6g.139373237A>GCA452441257CITED2c.708T>C (p.Gly236=)
c.723T>C (p.Gly241=)
c.537T>C (p.Gly179=)
6g.139373237A>TCA452441259CITED2c.708T>A (p.Gly236=)
c.723T>A (p.Gly241=)
c.537T>A (p.Gly179=)

Number of alleles fetched