Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.1002015_1002017delCA2586965949IDUAc.826_828del (p.Glu276del)
n.882_884del
c.643_645del (p.Glu215del)
c.430_432del (p.Glu144del)
n.826_828del
n.914_916del
c.785_787del (p.Gly262del)
c.685_687del (p.Glu229del)
c.619_621del (p.Glu207del)
c.538_540del (p.Glu180del)
n.895_897del
c.-135_-133del (n.-135_-133del)
 ClinVar gnomAD v4
4g.1002017G>ACA438057443IDUAc.828G>A (p.Glu276=)
n.884G>A
c.645G>A (p.Glu215=)
c.432G>A (p.Glu144=)
n.828G>A
n.916G>A
c.787G>A (p.Glu263Lys)
c.687G>A (p.Glu229=)
c.621G>A (p.Glu207=)
c.540G>A (p.Glu180=)
n.897G>A
c.-133G>A (n.-133G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1002017G>CCA2802104IDUAc.828G>C (p.Glu276Asp)
n.884G>C
c.645G>C (p.Glu215Asp)
c.432G>C (p.Glu144Asp)
n.828G>C
n.916G>C
c.787G>C (p.Glu263Gln)
c.687G>C (p.Glu229Asp)
c.621G>C (p.Glu207Asp)
c.540G>C (p.Glu180Asp)
n.897G>C
c.-133G>C (n.-133G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002017G=CA1433068503IDUAc.828G= (p.Glu276=)
n.884G=
c.645G= (p.Glu215=)
c.432G= (p.Glu144=)
n.828G=
n.916G=
c.787G= (p.Glu263=)
c.687G= (p.Glu229=)
c.621G= (p.Glu207=)
c.540G= (p.Glu180=)
n.897G=
c.-133G= (n.-133G=)
4g.1002017G>TCA355962361IDUAc.828G>T (p.Glu276Asp)
n.884G>T
c.645G>T (p.Glu215Asp)
c.432G>T (p.Glu144Asp)
n.828G>T
n.916G>T
c.787G>T (p.Glu263Ter)
c.687G>T (p.Glu229Asp)
c.621G>T (p.Glu207Asp)
c.540G>T (p.Glu180Asp)
n.897G>T
c.-133G>T (n.-133G>T)
 gnomAD v4
4g.1002018A>CCA355962364IDUAc.829A>C (p.Lys277Gln)
n.885A>C
c.646A>C (p.Lys216Gln)
c.433A>C (p.Lys145Gln)
n.829A>C
n.917A>C
c.788A>C (p.Glu263Ala)
c.688A>C (p.Lys230Gln)
c.622A>C (p.Lys208Gln)
c.541A>C (p.Lys181Gln)
n.898A>C
c.-132A>C (n.-132A>C)
 gnomAD v4
4g.1002018A>GCA355962363IDUAc.829A>G (p.Lys277Glu)
n.885A>G
c.646A>G (p.Lys216Glu)
c.433A>G (p.Lys145Glu)
n.829A>G
n.917A>G
c.788A>G (p.Glu263Gly)
c.688A>G (p.Lys230Glu)
c.622A>G (p.Lys208Glu)
c.541A>G (p.Lys181Glu)
n.898A>G
c.-132A>G (n.-132A>G)
4g.1002018A>TCA355962362IDUAc.829A>T (p.Lys277Ter)
n.885A>T
c.646A>T (p.Lys216Ter)
c.433A>T (p.Lys145Ter)
n.829A>T
n.917A>T
c.788A>T (p.Glu263Val)
c.688A>T (p.Lys230Ter)
c.622A>T (p.Lys208Ter)
c.541A>T (p.Lys181Ter)
n.898A>T
c.-132A>T (n.-132A>T)
4g.1002019A>CCA355962365IDUAc.830A>C (p.Lys277Thr)
n.886A>C
c.647A>C (p.Lys216Thr)
c.434A>C (p.Lys145Thr)
n.830A>C
n.918A>C
c.789A>C (p.Glu263Asp)
c.689A>C (p.Lys230Thr)
c.623A>C (p.Lys208Thr)
c.542A>C (p.Lys181Thr)
n.899A>C
c.-131A>C (n.-131A>C)
 gnomAD v4
4g.1002019A>GCA355962366IDUAc.830A>G (p.Lys277Arg)
n.886A>G
c.647A>G (p.Lys216Arg)
c.434A>G (p.Lys145Arg)
n.830A>G
n.918A>G
c.789A>G (p.Glu263=)
c.689A>G (p.Lys230Arg)
c.623A>G (p.Lys208Arg)
c.542A>G (p.Lys181Arg)
n.899A>G
c.-131A>G (n.-131A>G)
4g.1002019A>TCA355962367IDUAc.830A>T (p.Lys277Met)
n.886A>T
c.647A>T (p.Lys216Met)
c.434A>T (p.Lys145Met)
n.830A>T
n.918A>T
c.789A>T (p.Glu263Asp)
c.689A>T (p.Lys230Met)
c.623A>T (p.Lys208Met)
c.542A>T (p.Lys181Met)
n.899A>T
c.-131A>T (n.-131A>T)
 gnomAD v4
4g.1002020G>ACA438057445IDUAc.831G>A (p.Lys277=)
n.887G>A
c.648G>A (p.Lys216=)
c.435G>A (p.Lys145=)
n.831G>A
n.919G>A
c.790G>A (p.Gly264Ser)
c.690G>A (p.Lys230=)
c.624G>A (p.Lys208=)
c.543G>A (p.Lys181=)
n.900G>A
c.-130G>A (n.-130G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.1002020G>CCA2802105IDUAc.831G>C (p.Lys277Asn)
n.887G>C
c.648G>C (p.Lys216Asn)
c.435G>C (p.Lys145Asn)
n.831G>C
n.919G>C
c.790G>C (p.Gly264Arg)
c.690G>C (p.Lys230Asn)
c.624G>C (p.Lys208Asn)
c.543G>C (p.Lys181Asn)
n.900G>C
c.-130G>C (n.-130G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002020G=CA1433068505IDUAc.831G= (p.Lys277=)
n.887G=
c.648G= (p.Lys216=)
c.435G= (p.Lys145=)
n.831G=
n.919G=
c.790G= (p.Gly264=)
c.690G= (p.Lys230=)
c.624G= (p.Lys208=)
c.543G= (p.Lys181=)
n.900G=
c.-130G= (n.-130G=)
4g.1002020G>TCA355962368IDUAc.831G>T (p.Lys277Asn)
n.887G>T
c.648G>T (p.Lys216Asn)
c.435G>T (p.Lys145Asn)
n.831G>T
n.919G>T
c.790G>T (p.Gly264Cys)
c.690G>T (p.Lys230Asn)
c.624G>T (p.Lys208Asn)
c.543G>T (p.Lys181Asn)
n.900G>T
c.-130G>T (n.-130G>T)
4g.1002021G>ACA355962369IDUAc.832G>A (p.Val278Ile)
n.888G>A
c.649G>A (p.Val217Ile)
c.436G>A (p.Val146Ile)
n.832G>A
n.920G>A
c.791G>A (p.Gly264Asp)
c.691G>A (p.Val231Ile)
c.625G>A (p.Val209Ile)
c.544G>A (p.Val182Ile)
n.901G>A
c.-129G>A (n.-129G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1002021G>CCA355962370IDUAc.832G>C (p.Val278Leu)
n.888G>C
c.649G>C (p.Val217Leu)
c.436G>C (p.Val146Leu)
n.832G>C
n.920G>C
c.791G>C (p.Gly264Ala)
c.691G>C (p.Val231Leu)
c.625G>C (p.Val209Leu)
c.544G>C (p.Val182Leu)
n.901G>C
c.-129G>C (n.-129G>C)
4g.1002021G=CA1433068507IDUAc.832G= (p.Val278=)
n.888G=
c.649G= (p.Val217=)
c.436G= (p.Val146=)
n.832G=
n.920G=
c.791G= (p.Gly264=)
c.691G= (p.Val231=)
c.625G= (p.Val209=)
c.544G= (p.Val182=)
n.901G=
c.-129G= (n.-129G=)
4g.1002021G>TCA355962371IDUAc.832G>T (p.Val278Phe)
n.888G>T
c.649G>T (p.Val217Phe)
c.436G>T (p.Val146Phe)
n.832G>T
n.920G>T
c.791G>T (p.Gly264Val)
c.691G>T (p.Val231Phe)
c.625G>T (p.Val209Phe)
c.544G>T (p.Val182Phe)
n.901G>T
c.-129G>T (n.-129G>T)
4g.1002022T>ACA355962372IDUAc.833T>A (p.Val278Asp)
n.889T>A
c.650T>A (p.Val217Asp)
c.437T>A (p.Val146Asp)
n.833T>A
n.921T>A
c.792T>A (p.Gly264=)
c.692T>A (p.Val231Asp)
c.626T>A (p.Val209Asp)
c.545T>A (p.Val182Asp)
n.902T>A
c.-128T>A (n.-128T>A)
 gnomAD v4
4g.1002022T>CCA355962373IDUAc.833T>C (p.Val278Ala)
n.889T>C
c.650T>C (p.Val217Ala)
c.437T>C (p.Val146Ala)
n.833T>C
n.921T>C
c.792T>C (p.Gly264=)
c.692T>C (p.Val231Ala)
c.626T>C (p.Val209Ala)
c.545T>C (p.Val182Ala)
n.902T>C
c.-128T>C (n.-128T>C)
4g.1002022T>GCA355962374IDUAc.833T>G (p.Val278Gly)
n.889T>G
c.650T>G (p.Val217Gly)
c.437T>G (p.Val146Gly)
n.833T>G
n.921T>G
c.792T>G (p.Gly264=)
c.692T>G (p.Val231Gly)
c.626T>G (p.Val209Gly)
c.545T>G (p.Val182Gly)
n.902T>G
c.-128T>G (n.-128T>G)
4g.1002023C>ACA438057449IDUAc.834C>A (p.Val278=)
n.890C>A
c.651C>A (p.Val217=)
c.438C>A (p.Val146=)
n.834C>A
n.922C>A
c.793C>A (p.Arg265Ser)
c.693C>A (p.Val231=)
c.627C>A (p.Val209=)
c.546C>A (p.Val182=)
n.903C>A
c.-127C>A (n.-127C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002023C=CA1433068509IDUAc.834C= (p.Val278=)
n.890C=
c.651C= (p.Val217=)
c.438C= (p.Val146=)
n.834C=
n.922C=
c.793C= (p.Arg265=)
c.693C= (p.Val231=)
c.627C= (p.Val209=)
c.546C= (p.Val182=)
n.903C=
c.-127C= (n.-127C=)
4g.1002023C>GCA438057450IDUAc.834C>G (p.Val278=)
n.890C>G
c.651C>G (p.Val217=)
c.438C>G (p.Val146=)
n.834C>G
n.922C>G
c.793C>G (p.Arg265Gly)
c.693C>G (p.Val231=)
c.627C>G (p.Val209=)
c.546C>G (p.Val182=)
n.903C>G
c.-127C>G (n.-127C>G)
4g.1002023C>TCA438057451IDUAc.834C>T (p.Val278=)
n.890C>T
c.651C>T (p.Val217=)
c.438C>T (p.Val146=)
n.834C>T
n.922C>T
c.793C>T (p.Arg265Cys)
c.693C>T (p.Val231=)
c.627C>T (p.Val209=)
c.546C>T (p.Val182=)
n.903C>T
c.-127C>T (n.-127C>T)
4g.1002024G>ACA355962375IDUAc.835G>A (p.Val279Ile)
n.891G>A
c.652G>A (p.Val218Ile)
c.439G>A (p.Val147Ile)
n.835G>A
n.923G>A
c.794G>A (p.Arg265His)
c.694G>A (p.Val232Ile)
c.628G>A (p.Val210Ile)
c.547G>A (p.Val183Ile)
n.904G>A
c.-126G>A (n.-126G>A)
 dbSNP gnomAD v4
4g.1002024G>CCA355962376IDUAc.835G>C (p.Val279Leu)
n.891G>C
c.652G>C (p.Val218Leu)
c.439G>C (p.Val147Leu)
n.835G>C
n.923G>C
c.794G>C (p.Arg265Pro)
c.694G>C (p.Val232Leu)
c.628G>C (p.Val210Leu)
c.547G>C (p.Val183Leu)
n.904G>C
c.-126G>C (n.-126G>C)
4g.1002024G=CA1433068512IDUAc.835G= (p.Val279=)
n.891G=
c.652G= (p.Val218=)
c.439G= (p.Val147=)
n.835G=
n.923G=
c.794G= (p.Arg265=)
c.694G= (p.Val232=)
c.628G= (p.Val210=)
c.547G= (p.Val183=)
n.904G=
c.-126G= (n.-126G=)
4g.1002024G>TCA355962377IDUAc.835G>T (p.Val279Phe)
n.891G>T
c.652G>T (p.Val218Phe)
c.439G>T (p.Val147Phe)
n.835G>T
n.923G>T
c.794G>T (p.Arg265Leu)
c.694G>T (p.Val232Phe)
c.628G>T (p.Val210Phe)
c.547G>T (p.Val183Phe)
n.904G>T
c.-126G>T (n.-126G>T)
 gnomAD v4
4g.1002025T>ACA355962379IDUAc.836T>A (p.Val279Asp)
n.892T>A
c.653T>A (p.Val218Asp)
c.440T>A (p.Val147Asp)
n.836T>A
n.924T>A
c.795T>A (p.Arg265=)
c.695T>A (p.Val232Asp)
c.629T>A (p.Val210Asp)
c.548T>A (p.Val183Asp)
n.905T>A
c.-125T>A (n.-125T>A)
4g.1002025T>CCA355962380IDUAc.836T>C (p.Val279Ala)
n.892T>C
c.653T>C (p.Val218Ala)
c.440T>C (p.Val147Ala)
n.836T>C
n.924T>C
c.795T>C (p.Arg265=)
c.695T>C (p.Val232Ala)
c.629T>C (p.Val210Ala)
c.548T>C (p.Val183Ala)
n.905T>C
c.-125T>C (n.-125T>C)
4g.1002025T>GCA355962378IDUAc.836T>G (p.Val279Gly)
n.892T>G
c.653T>G (p.Val218Gly)
c.440T>G (p.Val147Gly)
n.836T>G
n.924T>G
c.795T>G (p.Arg265=)
c.695T>G (p.Val232Gly)
c.629T>G (p.Val210Gly)
c.548T>G (p.Val183Gly)
n.905T>G
c.-125T>G (n.-125T>G)
4g.1002026C>ACA438057453IDUAc.837C>A (p.Val279=)
n.893C>A
c.654C>A (p.Val218=)
c.441C>A (p.Val147=)
n.837C>A
n.925C>A
c.796C>A (p.Arg266Ser)
c.696C>A (p.Val232=)
c.630C>A (p.Val210=)
c.549C>A (p.Val183=)
n.906C>A
c.-124C>A (n.-124C>A)
 ClinVar dbSNP gnomAD v4
4g.1002026C=CA1433068516IDUAc.837C= (p.Val279=)
n.893C=
c.654C= (p.Val218=)
c.441C= (p.Val147=)
n.837C=
n.925C=
c.796C= (p.Arg266=)
c.696C= (p.Val232=)
c.630C= (p.Val210=)
c.549C= (p.Val183=)
n.906C=
c.-124C= (n.-124C=)
4g.1002026C>GCA438057454IDUAc.837C>G (p.Val279=)
n.893C>G
c.654C>G (p.Val218=)
c.441C>G (p.Val147=)
n.837C>G
n.925C>G
c.796C>G (p.Arg266Gly)
c.696C>G (p.Val232=)
c.630C>G (p.Val210=)
c.549C>G (p.Val183=)
n.906C>G
c.-124C>G (n.-124C>G)
 dbSNP
4g.1002026C>TCA2802106IDUAc.837C>T (p.Val279=)
n.893C>T
c.654C>T (p.Val218=)
c.441C>T (p.Val147=)
n.837C>T
n.925C>T
c.796C>T (p.Arg266Cys)
c.696C>T (p.Val232=)
c.630C>T (p.Val210=)
c.549C>T (p.Val183=)
n.906C>T
c.-124C>T (n.-124C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002027G>ACA355962381IDUAc.838G>A (p.Ala280Thr)
n.894G>A
c.655G>A (p.Ala219Thr)
c.442G>A (p.Ala148Thr)
n.838G>A
n.926G>A
c.797G>A (p.Arg266His)
c.697G>A (p.Ala233Thr)
c.631G>A (p.Ala211Thr)
c.550G>A (p.Ala184Thr)
n.907G>A
c.-123G>A (n.-123G>A)
 gnomAD v4 COSMIC COSMIC
4g.1002027G>CCA355962382IDUAc.838G>C (p.Ala280Pro)
n.894G>C
c.655G>C (p.Ala219Pro)
c.442G>C (p.Ala148Pro)
n.838G>C
n.926G>C
c.797G>C (p.Arg266Pro)
c.697G>C (p.Ala233Pro)
c.631G>C (p.Ala211Pro)
c.550G>C (p.Ala184Pro)
n.907G>C
c.-123G>C (n.-123G>C)
4g.1002027G=CA1433068519IDUAc.838G= (p.Ala280=)
n.894G=
c.655G= (p.Ala219=)
c.442G= (p.Ala148=)
n.838G=
n.926G=
c.797G= (p.Arg266=)
c.697G= (p.Ala233=)
c.631G= (p.Ala211=)
c.550G= (p.Ala184=)
n.907G=
c.-123G= (n.-123G=)
4g.1002027G>TCA355962383IDUAc.838G>T (p.Ala280Ser)
n.894G>T
c.655G>T (p.Ala219Ser)
c.442G>T (p.Ala148Ser)
n.838G>T
n.926G>T
c.797G>T (p.Arg266Leu)
c.697G>T (p.Ala233Ser)
c.631G>T (p.Ala211Ser)
c.550G>T (p.Ala184Ser)
n.907G>T
c.-123G>T (n.-123G>T)
 dbSNP gnomAD v4
4g.1002028C>ACA355962384IDUAc.839C>A (p.Ala280Glu)
n.895C>A
c.656C>A (p.Ala219Glu)
c.443C>A (p.Ala148Glu)
n.839C>A
n.927C>A
c.798C>A (p.Arg266=)
c.698C>A (p.Ala233Glu)
c.632C>A (p.Ala211Glu)
c.551C>A (p.Ala184Glu)
n.908C>A
c.-122C>A (n.-122C>A)
 gnomAD v4
4g.1002028C=CA1433068522IDUAc.839C= (p.Ala280=)
n.895C=
c.656C= (p.Ala219=)
c.443C= (p.Ala148=)
n.839C=
n.927C=
c.798C= (p.Arg266=)
c.698C= (p.Ala233=)
c.632C= (p.Ala211=)
c.551C= (p.Ala184=)
n.908C=
c.-122C= (n.-122C=)
4g.1002028C>GCA355962385IDUAc.839C>G (p.Ala280Gly)
n.895C>G
c.656C>G (p.Ala219Gly)
c.443C>G (p.Ala148Gly)
n.839C>G
n.927C>G
c.798C>G (p.Arg266=)
c.698C>G (p.Ala233Gly)
c.632C>G (p.Ala211Gly)
c.551C>G (p.Ala184Gly)
n.908C>G
c.-122C>G (n.-122C>G)
4g.1002028C>TCA355962386IDUAc.839C>T (p.Ala280Val)
n.895C>T
c.656C>T (p.Ala219Val)
c.443C>T (p.Ala148Val)
n.839C>T
n.927C>T
c.798C>T (p.Arg266=)
c.698C>T (p.Ala233Val)
c.632C>T (p.Ala211Val)
c.551C>T (p.Ala184Val)
n.908C>T
c.-122C>T (n.-122C>T)
 dbSNP gnomAD v4 COSMIC COSMIC
4g.1002029G>ACA438057455IDUAc.840G>A (p.Ala280=)
n.896G>A
c.657G>A (p.Ala219=)
c.444G>A (p.Ala148=)
n.840G>A
n.928G>A
c.799G>A (p.Ala267Thr)
c.699G>A (p.Ala233=)
c.633G>A (p.Ala211=)
c.552G>A (p.Ala184=)
n.909G>A
c.-121G>A (n.-121G>A)
 gnomAD v4
4g.1002029G>CCA438057456IDUAc.840G>C (p.Ala280=)
n.896G>C
c.657G>C (p.Ala219=)
c.444G>C (p.Ala148=)
n.840G>C
n.928G>C
c.799G>C (p.Ala267Pro)
c.699G>C (p.Ala233=)
c.633G>C (p.Ala211=)
c.552G>C (p.Ala184=)
n.909G>C
c.-121G>C (n.-121G>C)
 ClinVar dbSNP
4g.1002029G>TCA438057457IDUAc.840G>T (p.Ala280=)
n.896G>T
c.657G>T (p.Ala219=)
c.444G>T (p.Ala148=)
n.840G>T
n.928G>T
c.799G>T (p.Ala267Ser)
c.699G>T (p.Ala233=)
c.633G>T (p.Ala211=)
c.552G>T (p.Ala184=)
n.909G>T
c.-121G>T (n.-121G>T)
 gnomAD v4
4g.1002030C>ACA355962387IDUAc.841C>A (p.Gln281Lys)
n.897C>A
c.658C>A (p.Gln220Lys)
c.445C>A (p.Gln149Lys)
n.841C>A
n.929C>A
c.800C>A (p.Ala267Glu)
c.700C>A (p.Gln234Lys)
c.634C>A (p.Gln212Lys)
c.553C>A (p.Gln185Lys)
n.910C>A
c.-120C>A (n.-120C>A)
4g.1002030C>GCA355962388IDUAc.841C>G (p.Gln281Glu)
n.897C>G
c.658C>G (p.Gln220Glu)
c.445C>G (p.Gln149Glu)
n.841C>G
n.929C>G
c.800C>G (p.Ala267Gly)
c.700C>G (p.Gln234Glu)
c.634C>G (p.Gln212Glu)
c.553C>G (p.Gln185Glu)
n.910C>G
c.-120C>G (n.-120C>G)
4g.1002030C>TCA355962389IDUAc.841C>T (p.Gln281Ter)
n.897C>T
c.658C>T (p.Gln220Ter)
c.445C>T (p.Gln149Ter)
n.841C>T
n.929C>T
c.800C>T (p.Ala267Val)
c.700C>T (p.Gln234Ter)
c.634C>T (p.Gln212Ter)
c.553C>T (p.Gln185Ter)
n.910C>T
c.-120C>T (n.-120C>T)
4g.1002031A=CA1433068524IDUAc.842A= (p.Gln281=)
n.898A=
c.659A= (p.Gln220=)
c.446A= (p.Gln149=)
n.842A=
n.930A=
c.801A= (p.Ala267=)
c.701A= (p.Gln234=)
c.635A= (p.Gln212=)
c.554A= (p.Gln185=)
n.911A=
c.-119A= (n.-119A=)
4g.1002031A>CCA355962390IDUAc.842A>C (p.Gln281Pro)
n.898A>C
c.659A>C (p.Gln220Pro)
c.446A>C (p.Gln149Pro)
n.842A>C
n.930A>C
c.801A>C (p.Ala267=)
c.701A>C (p.Gln234Pro)
c.635A>C (p.Gln212Pro)
c.554A>C (p.Gln185Pro)
n.911A>C
c.-119A>C (n.-119A>C)
4g.1002031A>GCA2802107IDUAc.842A>G (p.Gln281Arg)
n.898A>G
c.659A>G (p.Gln220Arg)
c.446A>G (p.Gln149Arg)
n.842A>G
n.930A>G
c.801A>G (p.Ala267=)
c.701A>G (p.Gln234Arg)
c.635A>G (p.Gln212Arg)
c.554A>G (p.Gln185Arg)
n.911A>G
c.-119A>G (n.-119A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002031A>TCA355962391IDUAc.842A>T (p.Gln281Leu)
n.898A>T
c.659A>T (p.Gln220Leu)
c.446A>T (p.Gln149Leu)
n.842A>T
n.930A>T
c.801A>T (p.Ala267=)
c.701A>T (p.Gln234Leu)
c.635A>T (p.Gln212Leu)
c.554A>T (p.Gln185Leu)
n.911A>T
c.-119A>T (n.-119A>T)
4g.1002032G>ACA438057460IDUAc.843G>A (p.Gln281=)
n.899G>A
c.660G>A (p.Gln220=)
c.447G>A (p.Gln149=)
n.843G>A
n.931G>A
c.802G>A (p.Ala268Thr)
c.702G>A (p.Gln234=)
c.636G>A (p.Gln212=)
c.555G>A (p.Gln185=)
n.912G>A
c.-118G>A (n.-118G>A)
 gnomAD v4
4g.1002032G>CCA355962393IDUAc.843G>C (p.Gln281His)
n.899G>C
c.660G>C (p.Gln220His)
c.447G>C (p.Gln149His)
n.843G>C
n.931G>C
c.802G>C (p.Ala268Pro)
c.702G>C (p.Gln234His)
c.636G>C (p.Gln212His)
c.555G>C (p.Gln185His)
n.912G>C
c.-118G>C (n.-118G>C)
4g.1002032G>TCA355962392IDUAc.843G>T (p.Gln281His)
n.899G>T
c.660G>T (p.Gln220His)
c.447G>T (p.Gln149His)
n.843G>T
n.931G>T
c.802G>T (p.Ala268Ser)
c.702G>T (p.Gln234His)
c.636G>T (p.Gln212His)
c.555G>T (p.Gln185His)
n.912G>T
c.-118G>T (n.-118G>T)
 gnomAD v4
4g.1002033C>ACA355962394IDUAc.844C>A (p.Gln282Lys)
n.900C>A
c.661C>A (p.Gln221Lys)
c.448C>A (p.Gln150Lys)
n.844C>A
n.932C>A
c.803C>A (p.Ala268Glu)
c.703C>A (p.Gln235Lys)
c.637C>A (p.Gln213Lys)
c.556C>A (p.Gln186Lys)
n.913C>A
c.-117C>A (n.-117C>A)
 gnomAD v4
4g.1002033C>GCA355962395IDUAc.844C>G (p.Gln282Glu)
n.900C>G
c.661C>G (p.Gln221Glu)
c.448C>G (p.Gln150Glu)
n.844C>G
n.932C>G
c.803C>G (p.Ala268Gly)
c.703C>G (p.Gln235Glu)
c.637C>G (p.Gln213Glu)
c.556C>G (p.Gln186Glu)
n.913C>G
c.-117C>G (n.-117C>G)
4g.1002033C>TCA355962396IDUAc.844C>T (p.Gln282Ter)
n.900C>T
c.661C>T (p.Gln221Ter)
c.448C>T (p.Gln150Ter)
n.844C>T
n.932C>T
c.803C>T (p.Ala268Val)
c.703C>T (p.Gln235Ter)
c.637C>T (p.Gln213Ter)
c.556C>T (p.Gln186Ter)
n.913C>T
c.-117C>T (n.-117C>T)
 gnomAD v4
4g.1002034A=CA1433068528IDUAc.845A= (p.Gln282=)
n.901A=
c.662A= (p.Gln221=)
c.449A= (p.Gln150=)
n.845A=
n.933A=
c.804A= (p.Ala268=)
c.704A= (p.Gln235=)
c.638A= (p.Gln213=)
c.557A= (p.Gln186=)
n.914A=
c.-116A= (n.-116A=)
4g.1002034A>CCA355962397IDUAc.845A>C (p.Gln282Pro)
n.901A>C
c.662A>C (p.Gln221Pro)
c.449A>C (p.Gln150Pro)
n.845A>C
n.933A>C
c.804A>C (p.Ala268=)
c.704A>C (p.Gln235Pro)
c.638A>C (p.Gln213Pro)
c.557A>C (p.Gln186Pro)
n.914A>C
c.-116A>C (n.-116A>C)
4g.1002034A>GCA355962398IDUAc.845A>G (p.Gln282Arg)
n.901A>G
c.662A>G (p.Gln221Arg)
c.449A>G (p.Gln150Arg)
n.845A>G
n.933A>G
c.804A>G (p.Ala268=)
c.704A>G (p.Gln235Arg)
c.638A>G (p.Gln213Arg)
c.557A>G (p.Gln186Arg)
n.914A>G
c.-116A>G (n.-116A>G)
4g.1002034A>TCA10604740IDUAc.845A>T (p.Gln282Leu)
n.901A>T
c.662A>T (p.Gln221Leu)
c.449A>T (p.Gln150Leu)
n.845A>T
n.933A>T
c.804A>T (p.Ala268=)
c.704A>T (p.Gln235Leu)
c.638A>T (p.Gln213Leu)
c.557A>T (p.Gln186Leu)
n.914A>T
c.-116A>T (n.-116A>T)
 ClinVar dbSNP
4g.1002035G>ACA2802108IDUAc.846G>A (p.Gln282=)
n.902G>A
c.663G>A (p.Gln221=)
c.450G>A (p.Gln150=)
n.846G>A
n.934G>A
c.805G>A (p.Asp269Asn)
c.705G>A (p.Gln235=)
c.639G>A (p.Gln213=)
c.558G>A (p.Gln186=)
n.915G>A
c.-115G>A (n.-115G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002035G>CCA355962399IDUAc.846G>C (p.Gln282His)
n.902G>C
c.663G>C (p.Gln221His)
c.450G>C (p.Gln150His)
n.846G>C
n.934G>C
c.805G>C (p.Asp269His)
c.705G>C (p.Gln235His)
c.639G>C (p.Gln213His)
c.558G>C (p.Gln186His)
n.915G>C
c.-115G>C (n.-115G>C)
 dbSNP
4g.1002035G=CA1433068533IDUAc.846G= (p.Gln282=)
n.902G=
c.663G= (p.Gln221=)
c.450G= (p.Gln150=)
n.846G=
n.934G=
c.805G= (p.Asp269=)
c.705G= (p.Gln235=)
c.639G= (p.Gln213=)
c.558G= (p.Gln186=)
n.915G=
c.-115G= (n.-115G=)
4g.1002035G>TCA355962400IDUAc.846G>T (p.Gln282His)
n.902G>T
c.663G>T (p.Gln221His)
c.450G>T (p.Gln150His)
n.846G>T
n.934G>T
c.805G>T (p.Asp269Tyr)
c.705G>T (p.Gln235His)
c.639G>T (p.Gln213His)
c.558G>T (p.Gln186His)
n.915G>T
c.-115G>T (n.-115G>T)
 gnomAD v4
4g.1002036A>CCA355962401IDUAc.847A>C (p.Ile283Leu)
n.903A>C
c.664A>C (p.Ile222Leu)
c.451A>C (p.Ile151Leu)
n.847A>C
n.935A>C
c.806A>C (p.Asp269Ala)
c.706A>C (p.Ile236Leu)
c.640A>C (p.Ile214Leu)
c.559A>C (p.Ile187Leu)
n.916A>C
c.-114A>C (n.-114A>C)
4g.1002036A>GCA355962402IDUAc.847A>G (p.Ile283Val)
n.903A>G
c.664A>G (p.Ile222Val)
c.451A>G (p.Ile151Val)
n.847A>G
n.935A>G
c.806A>G (p.Asp269Gly)
c.706A>G (p.Ile236Val)
c.640A>G (p.Ile214Val)
c.559A>G (p.Ile187Val)
n.916A>G
c.-114A>G (n.-114A>G)
 gnomAD v4
4g.1002036A>TCA355962403IDUAc.847A>T (p.Ile283Phe)
n.903A>T
c.664A>T (p.Ile222Phe)
c.451A>T (p.Ile151Phe)
n.847A>T
n.935A>T
c.806A>T (p.Asp269Val)
c.706A>T (p.Ile236Phe)
c.640A>T (p.Ile214Phe)
c.559A>T (p.Ile187Phe)
n.916A>T
c.-114A>T (n.-114A>T)
4g.1002037T>ACA355962404IDUAc.848T>A (p.Ile283Asn)
n.904T>A
c.665T>A (p.Ile222Asn)
c.452T>A (p.Ile151Asn)
n.848T>A
n.936T>A
c.807T>A (p.Asp269Glu)
c.707T>A (p.Ile236Asn)
c.641T>A (p.Ile214Asn)
c.560T>A (p.Ile187Asn)
n.917T>A
c.-113T>A (n.-113T>A)
4g.1002037T>CCA2802109IDUAc.848T>C (p.Ile283Thr)
n.904T>C
c.665T>C (p.Ile222Thr)
c.452T>C (p.Ile151Thr)
n.848T>C
n.936T>C
c.807T>C (p.Asp269=)
c.707T>C (p.Ile236Thr)
c.641T>C (p.Ile214Thr)
c.560T>C (p.Ile187Thr)
n.917T>C
c.-113T>C (n.-113T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002037T>GCA355962405IDUAc.848T>G (p.Ile283Ser)
n.904T>G
c.665T>G (p.Ile222Ser)
c.452T>G (p.Ile151Ser)
n.848T>G
n.936T>G
c.807T>G (p.Asp269Glu)
c.707T>G (p.Ile236Ser)
c.641T>G (p.Ile214Ser)
c.560T>G (p.Ile187Ser)
n.917T>G
c.-113T>G (n.-113T>G)
4g.1002037T=CA1433068535IDUAc.848T= (p.Ile283=)
n.904T=
c.665T= (p.Ile222=)
c.452T= (p.Ile151=)
n.848T=
n.936T=
c.807T= (p.Asp269=)
c.707T= (p.Ile236=)
c.641T= (p.Ile214=)
c.560T= (p.Ile187=)
n.917T=
c.-113T= (n.-113T=)
4g.1002038C>ACA438057462IDUAc.849C>A (p.Ile283=)
n.905C>A
c.666C>A (p.Ile222=)
c.453C>A (p.Ile151=)
n.849C>A
n.937C>A
c.808C>A (p.Pro270Thr)
c.708C>A (p.Ile236=)
c.642C>A (p.Ile214=)
c.561C>A (p.Ile187=)
n.918C>A
c.-112C>A (n.-112C>A)
 gnomAD v4
4g.1002038C>GCA355962406IDUAc.849C>G (p.Ile283Met)
n.905C>G
c.666C>G (p.Ile222Met)
c.453C>G (p.Ile151Met)
n.849C>G
n.937C>G
c.808C>G (p.Pro270Ala)
c.708C>G (p.Ile236Met)
c.642C>G (p.Ile214Met)
c.561C>G (p.Ile187Met)
n.918C>G
c.-112C>G (n.-112C>G)
 gnomAD v4
4g.1002038C>TCA438057463IDUAc.849C>T (p.Ile283=)
n.905C>T
c.666C>T (p.Ile222=)
c.453C>T (p.Ile151=)
n.849C>T
n.937C>T
c.808C>T (p.Pro270Ser)
c.708C>T (p.Ile236=)
c.642C>T (p.Ile214=)
c.561C>T (p.Ile187=)
n.918C>T
c.-112C>T (n.-112C>T)
 ClinVar dbSNP gnomAD v4
4g.1002039C>ACA438057464IDUAc.850C>A (p.Arg284=)
n.906C>A
c.667C>A (p.Arg223=)
c.454C>A (p.Arg152=)
n.850C>A
n.938C>A
c.809C>A (p.Pro270Gln)
c.709C>A (p.Arg237=)
c.643C>A (p.Arg215=)
c.562C>A (p.Arg188=)
n.919C>A
c.-111C>A (n.-111C>A)
 ClinVar dbSNP gnomAD v4
4g.1002039C=CA1433068541IDUAc.850C= (p.Arg284=)
n.906C=
c.667C= (p.Arg223=)
c.454C= (p.Arg152=)
n.850C=
n.938C=
c.809C= (p.Pro270=)
c.709C= (p.Arg237=)
c.643C= (p.Arg215=)
c.562C= (p.Arg188=)
n.919C=
c.-111C= (n.-111C=)
4g.1002039C>GCA355962408IDUAc.850C>G (p.Arg284Gly)
n.906C>G
c.667C>G (p.Arg223Gly)
c.454C>G (p.Arg152Gly)
n.850C>G
n.938C>G
c.809C>G (p.Pro270Arg)
c.709C>G (p.Arg237Gly)
c.643C>G (p.Arg215Gly)
c.562C>G (p.Arg188Gly)
n.919C>G
c.-111C>G (n.-111C>G)
 gnomAD v4
4g.1002039C>TCA355962407IDUAc.850C>T (p.Arg284Trp)
n.906C>T
c.667C>T (p.Arg223Trp)
c.454C>T (p.Arg152Trp)
n.850C>T
n.938C>T
c.809C>T (p.Pro270Leu)
c.709C>T (p.Arg237Trp)
c.643C>T (p.Arg215Trp)
c.562C>T (p.Arg188Trp)
n.919C>T
c.-111C>T (n.-111C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1002040G>ACA355962409IDUAc.851G>A (p.Arg284Gln)
n.907G>A
c.668G>A (p.Arg223Gln)
c.455G>A (p.Arg152Gln)
n.851G>A
n.939G>A
c.810G>A (p.Pro270=)
c.710G>A (p.Arg237Gln)
c.644G>A (p.Arg215Gln)
c.563G>A (p.Arg188Gln)
n.920G>A
c.-110G>A (n.-110G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.1002040G>CCA355962410IDUAc.851G>C (p.Arg284Pro)
n.907G>C
c.668G>C (p.Arg223Pro)
c.455G>C (p.Arg152Pro)
n.851G>C
n.939G>C
c.810G>C (p.Pro270=)
c.710G>C (p.Arg237Pro)
c.644G>C (p.Arg215Pro)
c.563G>C (p.Arg188Pro)
n.920G>C
c.-110G>C (n.-110G>C)
 dbSNP gnomAD v4
4g.1002040G=CA1433068546IDUAc.851G= (p.Arg284=)
n.907G=
c.668G= (p.Arg223=)
c.455G= (p.Arg152=)
n.851G=
n.939G=
c.810G= (p.Pro270=)
c.710G= (p.Arg237=)
c.644G= (p.Arg215=)
c.563G= (p.Arg188=)
n.920G=
c.-110G= (n.-110G=)
4g.1002040G>TCA355962411IDUAc.851G>T (p.Arg284Leu)
n.907G>T
c.668G>T (p.Arg223Leu)
c.455G>T (p.Arg152Leu)
n.851G>T
n.939G>T
c.810G>T (p.Pro270=)
c.710G>T (p.Arg237Leu)
c.644G>T (p.Arg215Leu)
c.563G>T (p.Arg188Leu)
n.920G>T
c.-110G>T (n.-110G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1002041G>ACA438057468IDUAc.852G>A (p.Arg284=)
n.908G>A
c.669G>A (p.Arg223=)
c.456G>A (p.Arg152=)
n.852G>A
n.940G>A
c.811G>A (p.Ala271Thr)
c.711G>A (p.Arg237=)
c.645G>A (p.Arg215=)
c.564G>A (p.Arg188=)
n.921G>A
c.-109G>A (n.-109G>A)
 ClinVar gnomAD v4
4g.1002041G>CCA438057469IDUAc.852G>C (p.Arg284=)
n.908G>C
c.669G>C (p.Arg223=)
c.456G>C (p.Arg152=)
n.852G>C
n.940G>C
c.811G>C (p.Ala271Pro)
c.711G>C (p.Arg237=)
c.645G>C (p.Arg215=)
c.564G>C (p.Arg188=)
n.921G>C
c.-109G>C (n.-109G>C)
 ClinVar dbSNP
4g.1002041G>TCA438057470IDUAc.852G>T (p.Arg284=)
n.908G>T
c.669G>T (p.Arg223=)
c.456G>T (p.Arg152=)
n.852G>T
n.940G>T
c.811G>T (p.Ala271Ser)
c.711G>T (p.Arg237=)
c.645G>T (p.Arg215=)
c.564G>T (p.Arg188=)
n.921G>T
c.-109G>T (n.-109G>T)
 gnomAD v4
4g.1002042delCA2499217012IDUAc.853del (p.Gln285SerfsTer?)
n.909del
c.670del (p.Gln224SerfsTer?)
c.457del (p.Gln153SerfsTer?)
n.853del
n.941del
c.812del (p.Ala271GlufsTer?)
c.712del (p.Gln238SerfsTer?)
c.646del (p.Gln216SerfsTer?)
c.565del (p.Gln189SerfsTer?)
n.922del
c.-108del (n.-108del)
 ClinVar dbSNP
4g.1002042C>ACA355962412IDUAc.853C>A (p.Gln285Lys)
n.909C>A
c.670C>A (p.Gln224Lys)
c.457C>A (p.Gln153Lys)
n.853C>A
n.941C>A
c.812C>A (p.Ala271Glu)
c.712C>A (p.Gln238Lys)
c.646C>A (p.Gln216Lys)
c.565C>A (p.Gln189Lys)
n.922C>A
c.-108C>A (n.-108C>A)
 gnomAD v4
4g.1002042C>GCA355962413IDUAc.853C>G (p.Gln285Glu)
n.909C>G
c.670C>G (p.Gln224Glu)
c.457C>G (p.Gln153Glu)
n.853C>G
n.941C>G
c.812C>G (p.Ala271Gly)
c.712C>G (p.Gln238Glu)
c.646C>G (p.Gln216Glu)
c.565C>G (p.Gln189Glu)
n.922C>G
c.-108C>G (n.-108C>G)
4g.1002042C>TCA355962414IDUAc.853C>T (p.Gln285Ter)
n.909C>T
c.670C>T (p.Gln224Ter)
c.457C>T (p.Gln153Ter)
n.853C>T
n.941C>T
c.812C>T (p.Ala271Val)
c.712C>T (p.Gln238Ter)
c.646C>T (p.Gln216Ter)
c.565C>T (p.Gln189Ter)
n.922C>T
c.-108C>T (n.-108C>T)
4g.1002043A>CCA355962415IDUAc.854A>C (p.Gln285Pro)
n.910A>C
c.671A>C (p.Gln224Pro)
c.458A>C (p.Gln153Pro)
n.854A>C
n.942A>C
c.813A>C (p.Ala271=)
c.713A>C (p.Gln238Pro)
c.647A>C (p.Gln216Pro)
c.566A>C (p.Gln189Pro)
n.923A>C
c.-107A>C (n.-107A>C)
4g.1002043A>GCA355962416IDUAc.854A>G (p.Gln285Arg)
n.910A>G
c.671A>G (p.Gln224Arg)
c.458A>G (p.Gln153Arg)
n.854A>G
n.942A>G
c.813A>G (p.Ala271=)
c.713A>G (p.Gln238Arg)
c.647A>G (p.Gln216Arg)
c.566A>G (p.Gln189Arg)
n.923A>G
c.-107A>G (n.-107A>G)
4g.1002043A>TCA355962417IDUAc.854A>T (p.Gln285Leu)
n.910A>T
c.671A>T (p.Gln224Leu)
c.458A>T (p.Gln153Leu)
n.854A>T
n.942A>T
c.813A>T (p.Ala271=)
c.713A>T (p.Gln238Leu)
c.647A>T (p.Gln216Leu)
c.566A>T (p.Gln189Leu)
n.923A>T
c.-107A>T (n.-107A>T)
4g.1002044G>ACA2802110IDUAc.855G>A (p.Gln285=)
n.911G>A
c.672G>A (p.Gln224=)
c.459G>A (p.Gln153=)
n.855G>A
n.943G>A
c.814G>A (p.Ala272Thr)
c.714G>A (p.Gln238=)
c.648G>A (p.Gln216=)
c.567G>A (p.Gln189=)
n.924G>A
c.-106G>A (n.-106G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002044G>CCA91168382IDUAc.855G>C (p.Gln285His)
n.911G>C
c.672G>C (p.Gln224His)
c.459G>C (p.Gln153His)
n.855G>C
n.943G>C
c.814G>C (p.Ala272Pro)
c.714G>C (p.Gln238His)
c.648G>C (p.Gln216His)
c.567G>C (p.Gln189His)
n.924G>C
c.-106G>C (n.-106G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.1002044G=CA1433068549IDUAc.855G= (p.Gln285=)
n.911G=
c.672G= (p.Gln224=)
c.459G= (p.Gln153=)
n.855G=
n.943G=
c.814G= (p.Ala272=)
c.714G= (p.Gln238=)
c.648G= (p.Gln216=)
c.567G= (p.Gln189=)
n.924G=
c.-106G= (n.-106G=)
4g.1002044G>TCA355962418IDUAc.855G>T (p.Gln285His)
n.911G>T
c.672G>T (p.Gln224His)
c.459G>T (p.Gln153His)
n.855G>T
n.943G>T
c.814G>T (p.Ala272Ser)
c.714G>T (p.Gln238His)
c.648G>T (p.Gln216His)
c.567G>T (p.Gln189His)
n.924G>T
c.-106G>T (n.-106G>T)
 gnomAD v4
4g.1002045C>ACA355962419IDUAc.856C>A (p.Leu286Ile)
n.912C>A
c.673C>A (p.Leu225Ile)
c.460C>A (p.Leu154Ile)
n.856C>A
n.944C>A
c.815C>A (p.Ala272Asp)
c.715C>A (p.Leu239Ile)
c.649C>A (p.Leu217Ile)
c.568C>A (p.Leu190Ile)
n.925C>A
c.-105C>A (n.-105C>A)
 gnomAD v4
4g.1002045C=CA1433068553IDUAc.856C= (p.Leu286=)
n.912C=
c.673C= (p.Leu225=)
c.460C= (p.Leu154=)
n.856C=
n.944C=
c.815C= (p.Ala272=)
c.715C= (p.Leu239=)
c.649C= (p.Leu217=)
c.568C= (p.Leu190=)
n.925C=
c.-105C= (n.-105C=)
4g.1002045C>GCA355962420IDUAc.856C>G (p.Leu286Val)
n.912C>G
c.673C>G (p.Leu225Val)
c.460C>G (p.Leu154Val)
n.856C>G
n.944C>G
c.815C>G (p.Ala272Gly)
c.715C>G (p.Leu239Val)
c.649C>G (p.Leu217Val)
c.568C>G (p.Leu190Val)
n.925C>G
c.-105C>G (n.-105C>G)
 dbSNP gnomAD v2 gnomAD v4
4g.1002045C>TCA355962421IDUAc.856C>T (p.Leu286Phe)
n.912C>T
c.673C>T (p.Leu225Phe)
c.460C>T (p.Leu154Phe)
n.856C>T
n.944C>T
c.815C>T (p.Ala272Val)
c.715C>T (p.Leu239Phe)
c.649C>T (p.Leu217Phe)
c.568C>T (p.Leu190Phe)
n.925C>T
c.-105C>T (n.-105C>T)
 gnomAD v4
4g.1002046T>ACA355962422IDUAc.857T>A (p.Leu286His)
n.913T>A
c.674T>A (p.Leu225His)
c.461T>A (p.Leu154His)
n.857T>A
n.945T>A
c.816T>A (p.Ala272=)
c.716T>A (p.Leu239His)
c.650T>A (p.Leu217His)
c.569T>A (p.Leu190His)
n.926T>A
c.-104T>A (n.-104T>A)
4g.1002046T>CCA355962423IDUAc.857T>C (p.Leu286Pro)
n.913T>C
c.674T>C (p.Leu225Pro)
c.461T>C (p.Leu154Pro)
n.857T>C
n.945T>C
c.816T>C (p.Ala272=)
c.716T>C (p.Leu239Pro)
c.650T>C (p.Leu217Pro)
c.569T>C (p.Leu190Pro)
n.926T>C
c.-104T>C (n.-104T>C)
 dbSNP gnomAD v4
4g.1002046T>GCA355962424IDUAc.857T>G (p.Leu286Arg)
n.913T>G
c.674T>G (p.Leu225Arg)
c.461T>G (p.Leu154Arg)
n.857T>G
n.945T>G
c.816T>G (p.Ala272=)
c.716T>G (p.Leu239Arg)
c.650T>G (p.Leu217Arg)
c.569T>G (p.Leu190Arg)
n.926T>G
c.-104T>G (n.-104T>G)
4g.1002046T=CA1433068556IDUAc.857T= (p.Leu286=)
n.913T=
c.674T= (p.Leu225=)
c.461T= (p.Leu154=)
n.857T=
n.945T=
c.816T= (p.Ala272=)
c.716T= (p.Leu239=)
c.650T= (p.Leu217=)
c.569T= (p.Leu190=)
n.926T=
c.-104T= (n.-104T=)
4g.1002047C>ACA438057474IDUAc.858C>A (p.Leu286=)
n.914C>A
c.675C>A (p.Leu225=)
c.462C>A (p.Leu154=)
n.858C>A
n.946C>A
c.817C>A (p.Leu273Ile)
c.717C>A (p.Leu239=)
c.651C>A (p.Leu217=)
c.570C>A (p.Leu190=)
n.927C>A
c.-103C>A (n.-103C>A)
 gnomAD v4
4g.1002047C=CA1433068558IDUAc.858C= (p.Leu286=)
n.914C=
c.675C= (p.Leu225=)
c.462C= (p.Leu154=)
n.858C=
n.946C=
c.817C= (p.Leu273=)
c.717C= (p.Leu239=)
c.651C= (p.Leu217=)
c.570C= (p.Leu190=)
n.927C=
c.-103C= (n.-103C=)
4g.1002047C>GCA438057475IDUAc.858C>G (p.Leu286=)
n.914C>G
c.675C>G (p.Leu225=)
c.462C>G (p.Leu154=)
n.858C>G
n.946C>G
c.817C>G (p.Leu273Val)
c.717C>G (p.Leu239=)
c.651C>G (p.Leu217=)
c.570C>G (p.Leu190=)
n.927C>G
c.-103C>G (n.-103C>G)
4g.1002047C>TCA438057476IDUAc.858C>T (p.Leu286=)
n.914C>T
c.675C>T (p.Leu225=)
c.462C>T (p.Leu154=)
n.858C>T
n.946C>T
c.817C>T (p.Leu273Phe)
c.717C>T (p.Leu239=)
c.651C>T (p.Leu217=)
c.570C>T (p.Leu190=)
n.927C>T
c.-103C>T (n.-103C>T)
 ClinVar dbSNP
4g.1002049_1002112delCA2669480857IDUAc.860_923del (p.Phe287CysfsTer9)
n.916_979del
c.464_527del (p.Phe155CysfsTer9)
n.860_923del
n.948_1011del
c.819_882del (p.Val276ProfsTer?)
c.719_782del (p.Phe240CysfsTer9)
c.653_716del (p.Phe218CysfsTer9)
c.572_635del (p.Phe191CysfsTer9)
n.929_992del
c.-101_-38del (n.-101_-38del)
 gnomAD v4
4g.1002048T>ACA355962425IDUAc.859T>A (p.Phe287Ile)
n.915T>A
c.676T>A (p.Phe226Ile)
c.463T>A (p.Phe155Ile)
n.859T>A
n.947T>A
c.818T>A (p.Leu273His)
c.718T>A (p.Phe240Ile)
c.652T>A (p.Phe218Ile)
c.571T>A (p.Phe191Ile)
n.928T>A
c.-102T>A (n.-102T>A)
4g.1002048T>CCA355962426IDUAc.859T>C (p.Phe287Leu)
n.915T>C
c.676T>C (p.Phe226Leu)
c.463T>C (p.Phe155Leu)
n.859T>C
n.947T>C
c.818T>C (p.Leu273Pro)
c.718T>C (p.Phe240Leu)
c.652T>C (p.Phe218Leu)
c.571T>C (p.Phe191Leu)
n.928T>C
c.-102T>C (n.-102T>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1002048T>GCA355962427IDUAc.859T>G (p.Phe287Val)
n.915T>G
c.676T>G (p.Phe226Val)
c.463T>G (p.Phe155Val)
n.859T>G
n.947T>G
c.818T>G (p.Leu273Arg)
c.718T>G (p.Phe240Val)
c.652T>G (p.Phe218Val)
c.571T>G (p.Phe191Val)
n.928T>G
c.-102T>G (n.-102T>G)
4g.1002048T=CA1433068561IDUAc.859T= (p.Phe287=)
n.915T=
c.676T= (p.Phe226=)
c.463T= (p.Phe155=)
n.859T=
n.947T=
c.818T= (p.Leu273=)
c.718T= (p.Phe240=)
c.652T= (p.Phe218=)
c.571T= (p.Phe191=)
n.928T=
c.-102T= (n.-102T=)
4g.1002049delCA2669480861IDUAc.860del (p.Phe287SerfsTer30)
n.916del
c.677del (p.Phe226SerfsTer?)
c.464del (p.Phe155SerfsTer30)
n.860del
n.948del
c.819del (p.Gln275LysfsTer?)
c.719del (p.Phe240SerfsTer30)
c.653del (p.Phe218SerfsTer30)
c.572del (p.Phe191SerfsTer30)
n.929del
c.-101del (n.-101del)
 gnomAD v4
4g.1002049T>ACA355962428IDUAc.860T>A (p.Phe287Tyr)
n.916T>A
c.677T>A (p.Phe226Tyr)
c.464T>A (p.Phe155Tyr)
n.860T>A
n.948T>A
c.819T>A (p.Leu273=)
c.719T>A (p.Phe240Tyr)
c.653T>A (p.Phe218Tyr)
c.572T>A (p.Phe191Tyr)
n.929T>A
c.-101T>A (n.-101T>A)
4g.1002049T>CCA355962429IDUAc.860T>C (p.Phe287Ser)
n.916T>C
c.677T>C (p.Phe226Ser)
c.464T>C (p.Phe155Ser)
n.860T>C
n.948T>C
c.819T>C (p.Leu273=)
c.719T>C (p.Phe240Ser)
c.653T>C (p.Phe218Ser)
c.572T>C (p.Phe191Ser)
n.929T>C
c.-101T>C (n.-101T>C)
4g.1002049T>GCA2802111IDUAc.860T>G (p.Phe287Cys)
n.916T>G
c.677T>G (p.Phe226Cys)
c.464T>G (p.Phe155Cys)
n.860T>G
n.948T>G
c.819T>G (p.Leu273=)
c.719T>G (p.Phe240Cys)
c.653T>G (p.Phe218Cys)
c.572T>G (p.Phe191Cys)
n.929T>G
c.-101T>G (n.-101T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002049T=CA1433068564IDUAc.860T= (p.Phe287=)
n.916T=
c.677T= (p.Phe226=)
c.464T= (p.Phe155=)
n.860T=
n.948T=
c.819T= (p.Leu273=)
c.719T= (p.Phe240=)
c.653T= (p.Phe218=)
c.572T= (p.Phe191=)
n.929T=
c.-101T= (n.-101T=)
4g.1002050C>ACA355962431IDUAc.861C>A (p.Phe287Leu)
n.917C>A
c.678C>A (p.Phe226Leu)
c.465C>A (p.Phe155Leu)
n.861C>A
n.949C>A
c.820C>A (p.Pro274Thr)
c.720C>A (p.Phe240Leu)
c.654C>A (p.Phe218Leu)
c.573C>A (p.Phe191Leu)
n.930C>A
c.-100C>A (n.-100C>A)
4g.1002050C=CA1433068569IDUAc.861C= (p.Phe287=)
n.917C=
c.678C= (p.Phe226=)
c.465C= (p.Phe155=)
n.861C=
n.949C=
c.820C= (p.Pro274=)
c.720C= (p.Phe240=)
c.654C= (p.Phe218=)
c.573C= (p.Phe191=)
n.930C=
c.-100C= (n.-100C=)
4g.1002050C>GCA355962430IDUAc.861C>G (p.Phe287Leu)
n.917C>G
c.678C>G (p.Phe226Leu)
c.465C>G (p.Phe155Leu)
n.861C>G
n.949C>G
c.820C>G (p.Pro274Ala)
c.720C>G (p.Phe240Leu)
c.654C>G (p.Phe218Leu)
c.573C>G (p.Phe191Leu)
n.930C>G
c.-100C>G (n.-100C>G)
4g.1002050C>TCA438057480IDUAc.861C>T (p.Phe287=)
n.917C>T
c.678C>T (p.Phe226=)
c.465C>T (p.Phe155=)
n.861C>T
n.949C>T
c.820C>T (p.Pro274Ser)
c.720C>T (p.Phe240=)
c.654C>T (p.Phe218=)
c.573C>T (p.Phe191=)
n.930C>T
c.-100C>T (n.-100C>T)
 ClinVar dbSNP gnomAD v4
4g.1002053delCA2669480867IDUAc.864del (p.Lys289SerfsTer28)
n.920del
c.681del (p.Lys228SerfsTer?)
c.468del (p.Lys157SerfsTer28)
n.864del
n.952del
c.823del (p.Gln275LysfsTer?)
c.723del (p.Lys242SerfsTer28)
c.657del (p.Lys220SerfsTer28)
c.576del (p.Lys193SerfsTer28)
n.933del
c.-97del (n.-97del)
 gnomAD v4
4g.1002051C>ACA355962432IDUAc.862C>A (p.Pro288Thr)
n.918C>A
c.679C>A (p.Pro227Thr)
c.466C>A (p.Pro156Thr)
n.862C>A
n.950C>A
c.821C>A (p.Pro274His)
c.721C>A (p.Pro241Thr)
c.655C>A (p.Pro219Thr)
c.574C>A (p.Pro192Thr)
n.931C>A
c.-99C>A (n.-99C>A)
 gnomAD v4
4g.1002051C=CA1433068571IDUAc.862C= (p.Pro288=)
n.918C=
c.679C= (p.Pro227=)
c.466C= (p.Pro156=)
n.862C=
n.950C=
c.821C= (p.Pro274=)
c.721C= (p.Pro241=)
c.655C= (p.Pro219=)
c.574C= (p.Pro192=)
n.931C=
c.-99C= (n.-99C=)
4g.1002051C>GCA2802112IDUAc.862C>G (p.Pro288Ala)
n.918C>G
c.679C>G (p.Pro227Ala)
c.466C>G (p.Pro156Ala)
n.862C>G
n.950C>G
c.821C>G (p.Pro274Arg)
c.721C>G (p.Pro241Ala)
c.655C>G (p.Pro219Ala)
c.574C>G (p.Pro192Ala)
n.931C>G
c.-99C>G (n.-99C>G)
 dbSNP ExAC gnomAD v4
4g.1002051C>TCA355962433IDUAc.862C>T (p.Pro288Ser)
n.918C>T
c.679C>T (p.Pro227Ser)
c.466C>T (p.Pro156Ser)
n.862C>T
n.950C>T
c.821C>T (p.Pro274Leu)
c.721C>T (p.Pro241Ser)
c.655C>T (p.Pro219Ser)
c.574C>T (p.Pro192Ser)
n.931C>T
c.-99C>T (n.-99C>T)
4g.1002052C>ACA355962434IDUAc.863C>A (p.Pro288His)
n.919C>A
c.680C>A (p.Pro227His)
c.467C>A (p.Pro156His)
n.863C>A
n.951C>A
c.822C>A (p.Pro274=)
c.722C>A (p.Pro241His)
c.656C>A (p.Pro219His)
c.575C>A (p.Pro192His)
n.932C>A
c.-98C>A (n.-98C>A)
 gnomAD v4
4g.1002052C=CA1433068575IDUAc.863C= (p.Pro288=)
n.919C=
c.680C= (p.Pro227=)
c.467C= (p.Pro156=)
n.863C=
n.951C=
c.822C= (p.Pro274=)
c.722C= (p.Pro241=)
c.656C= (p.Pro219=)
c.575C= (p.Pro192=)
n.932C=
c.-98C= (n.-98C=)
4g.1002052C>GCA355962435IDUAc.863C>G (p.Pro288Arg)
n.919C>G
c.680C>G (p.Pro227Arg)
c.467C>G (p.Pro156Arg)
n.863C>G
n.951C>G
c.822C>G (p.Pro274=)
c.722C>G (p.Pro241Arg)
c.656C>G (p.Pro219Arg)
c.575C>G (p.Pro192Arg)
n.932C>G
c.-98C>G (n.-98C>G)
 gnomAD v4
4g.1002052C>TCA355962436IDUAc.863C>T (p.Pro288Leu)
n.919C>T
c.680C>T (p.Pro227Leu)
c.467C>T (p.Pro156Leu)
n.863C>T
n.951C>T
c.822C>T (p.Pro274=)
c.722C>T (p.Pro241Leu)
c.656C>T (p.Pro219Leu)
c.575C>T (p.Pro192Leu)
n.932C>T
c.-98C>T (n.-98C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1002053C>ACA438057482IDUAc.864C>A (p.Pro288=)
n.920C>A
c.681C>A (p.Pro227=)
c.468C>A (p.Pro156=)
n.864C>A
n.952C>A
c.823C>A (p.Gln275Lys)
c.723C>A (p.Pro241=)
c.657C>A (p.Pro219=)
c.576C>A (p.Pro192=)
n.933C>A
c.-97C>A (n.-97C>A)
 gnomAD v4
4g.1002053C=CA1433068579IDUAc.864C= (p.Pro288=)
n.920C=
c.681C= (p.Pro227=)
c.468C= (p.Pro156=)
n.864C=
n.952C=
c.823C= (p.Gln275=)
c.723C= (p.Pro241=)
c.657C= (p.Pro219=)
c.576C= (p.Pro192=)
n.933C=
c.-97C= (n.-97C=)
4g.1002053C>GCA438057483IDUAc.864C>G (p.Pro288=)
n.920C>G
c.681C>G (p.Pro227=)
c.468C>G (p.Pro156=)
n.864C>G
n.952C>G
c.823C>G (p.Gln275Glu)
c.723C>G (p.Pro241=)
c.657C>G (p.Pro219=)
c.576C>G (p.Pro192=)
n.933C>G
c.-97C>G (n.-97C>G)
4g.1002053C>TCA438057484IDUAc.864C>T (p.Pro288=)
n.920C>T
c.681C>T (p.Pro227=)
c.468C>T (p.Pro156=)
n.864C>T
n.952C>T
c.823C>T (p.Gln275Ter)
c.723C>T (p.Pro241=)
c.657C>T (p.Pro219=)
c.576C>T (p.Pro192=)
n.933C>T
c.-97C>T (n.-97C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002054A>CCA355962439IDUAc.865A>C (p.Lys289Gln)
n.921A>C
c.682A>C (p.Lys228Gln)
c.469A>C (p.Lys157Gln)
n.865A>C
n.953A>C
c.824A>C (p.Gln275Pro)
c.724A>C (p.Lys242Gln)
c.658A>C (p.Lys220Gln)
c.577A>C (p.Lys193Gln)
n.934A>C
c.-96A>C (n.-96A>C)
4g.1002054A>GCA355962437IDUAc.865A>G (p.Lys289Glu)
n.921A>G
c.682A>G (p.Lys228Glu)
c.469A>G (p.Lys157Glu)
n.865A>G
n.953A>G
c.824A>G (p.Gln275Arg)
c.724A>G (p.Lys242Glu)
c.658A>G (p.Lys220Glu)
c.577A>G (p.Lys193Glu)
n.934A>G
c.-96A>G (n.-96A>G)
4g.1002054A>TCA355962438IDUAc.865A>T (p.Lys289Ter)
n.921A>T
c.682A>T (p.Lys228Ter)
c.469A>T (p.Lys157Ter)
n.865A>T
n.953A>T
c.824A>T (p.Gln275Leu)
c.724A>T (p.Lys242Ter)
c.658A>T (p.Lys220Ter)
c.577A>T (p.Lys193Ter)
n.934A>T
c.-96A>T (n.-96A>T)
4g.1002055delCA2740091080IDUAc.866del (p.Lys289SerfsTer28)
n.922del
c.683del (p.Lys228SerfsTer?)
c.470del (p.Lys157SerfsTer28)
n.866del
n.954del
c.825del (p.Val276PhefsTer?)
c.725del (p.Lys242SerfsTer28)
c.659del (p.Lys220SerfsTer28)
c.578del (p.Lys193SerfsTer28)
n.935del
c.-95del (n.-95del)
 ClinVar
4g.1002055A>CCA355962440IDUAc.866A>C (p.Lys289Thr)
n.922A>C
c.683A>C (p.Lys228Thr)
c.470A>C (p.Lys157Thr)
n.866A>C
n.954A>C
c.825A>C (p.Gln275His)
c.725A>C (p.Lys242Thr)
c.659A>C (p.Lys220Thr)
c.578A>C (p.Lys193Thr)
n.935A>C
c.-95A>C (n.-95A>C)
4g.1002055A>GCA355962441IDUAc.866A>G (p.Lys289Arg)
n.922A>G
c.683A>G (p.Lys228Arg)
c.470A>G (p.Lys157Arg)
n.866A>G
n.954A>G
c.825A>G (p.Gln275=)
c.725A>G (p.Lys242Arg)
c.659A>G (p.Lys220Arg)
c.578A>G (p.Lys193Arg)
n.935A>G
c.-95A>G (n.-95A>G)
4g.1002055A>TCA355962442IDUAc.866A>T (p.Lys289Met)
n.922A>T
c.683A>T (p.Lys228Met)
c.470A>T (p.Lys157Met)
n.866A>T
n.954A>T
c.825A>T (p.Gln275His)
c.725A>T (p.Lys242Met)
c.659A>T (p.Lys220Met)
c.578A>T (p.Lys193Met)
n.935A>T
c.-95A>T (n.-95A>T)
4g.1002056G>ACA438057486IDUAc.867G>A (p.Lys289=)
n.923G>A
c.684G>A (p.Lys228=)
c.471G>A (p.Lys157=)
n.867G>A
n.955G>A
c.826G>A (p.Val276Ile)
c.726G>A (p.Lys242=)
c.660G>A (p.Lys220=)
c.579G>A (p.Lys193=)
n.936G>A
c.-94G>A (n.-94G>A)
4g.1002056G>CCA355962443IDUAc.867G>C (p.Lys289Asn)
n.923G>C
c.684G>C (p.Lys228Asn)
c.471G>C (p.Lys157Asn)
n.867G>C
n.955G>C
c.826G>C (p.Val276Leu)
c.726G>C (p.Lys242Asn)
c.660G>C (p.Lys220Asn)
c.579G>C (p.Lys193Asn)
n.936G>C
c.-94G>C (n.-94G>C)
 gnomAD v4
4g.1002056G>TCA355962444IDUAc.867G>T (p.Lys289Asn)
n.923G>T
c.684G>T (p.Lys228Asn)
c.471G>T (p.Lys157Asn)
n.867G>T
n.955G>T
c.826G>T (p.Val276Phe)
c.726G>T (p.Lys242Asn)
c.660G>T (p.Lys220Asn)
c.579G>T (p.Lys193Asn)
n.936G>T
c.-94G>T (n.-94G>T)
4g.1002057T>ACA355962445IDUAc.868T>A (p.Phe290Ile)
n.924T>A
c.685T>A (p.Phe229Ile)
c.472T>A (p.Phe158Ile)
n.868T>A
n.956T>A
c.827T>A (p.Val276Asp)
c.727T>A (p.Phe243Ile)
c.661T>A (p.Phe221Ile)
c.580T>A (p.Phe194Ile)
n.937T>A
c.-93T>A (n.-93T>A)
4g.1002057T>CCA355962447IDUAc.868T>C (p.Phe290Leu)
n.924T>C
c.685T>C (p.Phe229Leu)
c.472T>C (p.Phe158Leu)
n.868T>C
n.956T>C
c.827T>C (p.Val276Ala)
c.727T>C (p.Phe243Leu)
c.661T>C (p.Phe221Leu)
c.580T>C (p.Phe194Leu)
n.937T>C
c.-93T>C (n.-93T>C)
 dbSNP
4g.1002057T>GCA355962446IDUAc.868T>G (p.Phe290Val)
n.924T>G
c.685T>G (p.Phe229Val)
c.472T>G (p.Phe158Val)
n.868T>G
n.956T>G
c.827T>G (p.Val276Gly)
c.727T>G (p.Phe243Val)
c.661T>G (p.Phe221Val)
c.580T>G (p.Phe194Val)
n.937T>G
c.-93T>G (n.-93T>G)
4g.1002058T>ACA355962448IDUAc.869T>A (p.Phe290Tyr)
n.925T>A
c.686T>A (p.Phe229Tyr)
c.473T>A (p.Phe158Tyr)
n.869T>A
n.957T>A
c.828T>A (p.Val276=)
c.728T>A (p.Phe243Tyr)
c.662T>A (p.Phe221Tyr)
c.581T>A (p.Phe194Tyr)
n.938T>A
c.-92T>A (n.-92T>A)
4g.1002058T>CCA355962449IDUAc.869T>C (p.Phe290Ser)
n.925T>C
c.686T>C (p.Phe229Ser)
c.473T>C (p.Phe158Ser)
n.869T>C
n.957T>C
c.828T>C (p.Val276=)
c.728T>C (p.Phe243Ser)
c.662T>C (p.Phe221Ser)
c.581T>C (p.Phe194Ser)
n.938T>C
c.-92T>C (n.-92T>C)
4g.1002058T>GCA355962450IDUAc.869T>G (p.Phe290Cys)
n.925T>G
c.686T>G (p.Phe229Cys)
c.473T>G (p.Phe158Cys)
n.869T>G
n.957T>G
c.828T>G (p.Val276=)
c.728T>G (p.Phe243Cys)
c.662T>G (p.Phe221Cys)
c.581T>G (p.Phe194Cys)
n.938T>G
c.-92T>G (n.-92T>G)
4g.1002059C>ACA355962451IDUAc.870C>A (p.Phe290Leu)
n.926C>A
c.687C>A (p.Phe229Leu)
c.474C>A (p.Phe158Leu)
n.870C>A
n.958C>A
c.829C>A (p.Arg277Ser)
c.729C>A (p.Phe243Leu)
c.663C>A (p.Phe221Leu)
c.582C>A (p.Phe194Leu)
n.939C>A
c.-91C>A (n.-91C>A)
 ClinVar dbSNP gnomAD v4
4g.1002059C=CA1433068581IDUAc.870C= (p.Phe290=)
n.926C=
c.687C= (p.Phe229=)
c.474C= (p.Phe158=)
n.870C=
n.958C=
c.829C= (p.Arg277=)
c.729C= (p.Phe243=)
c.663C= (p.Phe221=)
c.582C= (p.Phe194=)
n.939C=
c.-91C= (n.-91C=)
4g.1002059C>GCA355962452IDUAc.870C>G (p.Phe290Leu)
n.926C>G
c.687C>G (p.Phe229Leu)
c.474C>G (p.Phe158Leu)
n.870C>G
n.958C>G
c.829C>G (p.Arg277Gly)
c.729C>G (p.Phe243Leu)
c.663C>G (p.Phe221Leu)
c.582C>G (p.Phe194Leu)
n.939C>G
c.-91C>G (n.-91C>G)
 dbSNP
4g.1002059C>TCA438057489IDUAc.870C>T (p.Phe290=)
n.926C>T
c.687C>T (p.Phe229=)
c.474C>T (p.Phe158=)
n.870C>T
n.958C>T
c.829C>T (p.Arg277Cys)
c.729C>T (p.Phe243=)
c.663C>T (p.Phe221=)
c.582C>T (p.Phe194=)
n.939C>T
c.-91C>T (n.-91C>T)
 ClinVar dbSNP gnomAD v4
4g.1002060G>ACA2802113IDUAc.871G>A (p.Ala291Thr)
n.927G>A
c.688G>A (p.Ala230Thr)
c.475G>A (p.Ala159Thr)
n.871G>A
n.959G>A
c.830G>A (p.Arg277His)
c.730G>A (p.Ala244Thr)
c.664G>A (p.Ala222Thr)
c.583G>A (p.Ala195Thr)
n.940G>A
c.-90G>A (n.-90G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002060G>CCA355962453IDUAc.871G>C (p.Ala291Pro)
n.927G>C
c.688G>C (p.Ala230Pro)
c.475G>C (p.Ala159Pro)
n.871G>C
n.959G>C
c.830G>C (p.Arg277Pro)
c.730G>C (p.Ala244Pro)
c.664G>C (p.Ala222Pro)
c.583G>C (p.Ala195Pro)
n.940G>C
c.-90G>C (n.-90G>C)
4g.1002060G=CA1433068584IDUAc.871G= (p.Ala291=)
n.927G=
c.688G= (p.Ala230=)
c.475G= (p.Ala159=)
n.871G=
n.959G=
c.830G= (p.Arg277=)
c.730G= (p.Ala244=)
c.664G= (p.Ala222=)
c.583G= (p.Ala195=)
n.940G=
c.-90G= (n.-90G=)
4g.1002060G>TCA355962454IDUAc.871G>T (p.Ala291Ser)
n.927G>T
c.688G>T (p.Ala230Ser)
c.475G>T (p.Ala159Ser)
n.871G>T
n.959G>T
c.830G>T (p.Arg277Leu)
c.730G>T (p.Ala244Ser)
c.664G>T (p.Ala222Ser)
c.583G>T (p.Ala195Ser)
n.940G>T
c.-90G>T (n.-90G>T)
 gnomAD v4
4g.1002061C>ACA355962455IDUAc.872C>A (p.Ala291Glu)
n.928C>A
c.689C>A (p.Ala230Glu)
c.476C>A (p.Ala159Glu)
n.872C>A
n.960C>A
c.831C>A (p.Arg277=)
c.731C>A (p.Ala244Glu)
c.665C>A (p.Ala222Glu)
c.584C>A (p.Ala195Glu)
n.941C>A
c.-89C>A (n.-89C>A)
 gnomAD v4
4g.1002061C=CA1433068586IDUAc.872C= (p.Ala291=)
n.928C=
c.689C= (p.Ala230=)
c.476C= (p.Ala159=)
n.872C=
n.960C=
c.831C= (p.Arg277=)
c.731C= (p.Ala244=)
c.665C= (p.Ala222=)
c.584C= (p.Ala195=)
n.941C=
c.-89C= (n.-89C=)
4g.1002061C>GCA355962456IDUAc.872C>G (p.Ala291Gly)
n.928C>G
c.689C>G (p.Ala230Gly)
c.476C>G (p.Ala159Gly)
n.872C>G
n.960C>G
c.831C>G (p.Arg277=)
c.731C>G (p.Ala244Gly)
c.665C>G (p.Ala222Gly)
c.584C>G (p.Ala195Gly)
n.941C>G
c.-89C>G (n.-89C>G)
 gnomAD v4
4g.1002061C>TCA355962457IDUAc.872C>T (p.Ala291Val)
n.928C>T
c.689C>T (p.Ala230Val)
c.476C>T (p.Ala159Val)
n.872C>T
n.960C>T
c.831C>T (p.Arg277=)
c.731C>T (p.Ala244Val)
c.665C>T (p.Ala222Val)
c.584C>T (p.Ala195Val)
n.941C>T
c.-89C>T (n.-89C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1002062G>ACA438057490IDUAc.873G>A (p.Ala291=)
n.929G>A
c.690G>A (p.Ala230=)
c.477G>A (p.Ala159=)
n.873G>A
n.961G>A
c.832G>A (p.Gly278Arg)
c.732G>A (p.Ala244=)
c.666G>A (p.Ala222=)
c.585G>A (p.Ala195=)
n.942G>A
c.-88G>A (n.-88G>A)
 gnomAD v4
4g.1002062G>CCA438057491IDUAc.873G>C (p.Ala291=)
n.929G>C
c.690G>C (p.Ala230=)
c.477G>C (p.Ala159=)
n.873G>C
n.961G>C
c.832G>C (p.Gly278Arg)
c.732G>C (p.Ala244=)
c.666G>C (p.Ala222=)
c.585G>C (p.Ala195=)
n.942G>C
c.-88G>C (n.-88G>C)
 gnomAD v4
4g.1002062G>TCA438057492IDUAc.873G>T (p.Ala291=)
n.929G>T
c.690G>T (p.Ala230=)
c.477G>T (p.Ala159=)
n.873G>T
n.961G>T
c.832G>T (p.Gly278Ter)
c.732G>T (p.Ala244=)
c.666G>T (p.Ala222=)
c.585G>T (p.Ala195=)
n.942G>T
c.-88G>T (n.-88G>T)
 gnomAD v4
4g.1002063dupCA913108035IDUAc.874dup (p.Asp292GlyfsTer?)
n.930dup
c.691dup (p.Asp231GlyfsTer?)
c.478dup (p.Asp160GlyfsTer?)
n.874dup
n.962dup
c.833dup (p.His279ThrfsTer25)
c.733dup (p.Asp245GlyfsTer?)
c.667dup (p.Asp223GlyfsTer?)
c.586dup (p.Asp196GlyfsTer?)
n.943dup
c.-87dup (n.-87dup)
4g.1002063G>ACA355962459IDUAc.874G>A (p.Asp292Asn)
n.930G>A
c.691G>A (p.Asp231Asn)
c.478G>A (p.Asp160Asn)
n.874G>A
n.962G>A
c.833G>A (p.Gly278Glu)
c.733G>A (p.Asp245Asn)
c.667G>A (p.Asp223Asn)
c.586G>A (p.Asp196Asn)
n.943G>A
c.-87G>A (n.-87G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1002063G>CCA355962460IDUAc.874G>C (p.Asp292His)
n.930G>C
c.691G>C (p.Asp231His)
c.478G>C (p.Asp160His)
n.874G>C
n.962G>C
c.833G>C (p.Gly278Ala)
c.733G>C (p.Asp245His)
c.667G>C (p.Asp223His)
c.586G>C (p.Asp196His)
n.943G>C
c.-87G>C (n.-87G>C)
4g.1002063G=CA1433068589IDUAc.874G= (p.Asp292=)
n.930G=
c.691G= (p.Asp231=)
c.478G= (p.Asp160=)
n.874G=
n.962G=
c.833G= (p.Gly278=)
c.733G= (p.Asp245=)
c.667G= (p.Asp223=)
c.586G= (p.Asp196=)
n.943G=
c.-87G= (n.-87G=)
4g.1002063G>TCA355962458IDUAc.874G>T (p.Asp292Tyr)
n.930G>T
c.691G>T (p.Asp231Tyr)
c.478G>T (p.Asp160Tyr)
n.874G>T
n.962G>T
c.833G>T (p.Gly278Val)
c.733G>T (p.Asp245Tyr)
c.667G>T (p.Asp223Tyr)
c.586G>T (p.Asp196Tyr)
n.943G>T
c.-87G>T (n.-87G>T)
 gnomAD v4
4g.1002064A>CCA355962461IDUAc.875A>C (p.Asp292Ala)
n.931A>C
c.692A>C (p.Asp231Ala)
c.479A>C (p.Asp160Ala)
n.875A>C
n.963A>C
c.834A>C (p.Gly278=)
c.734A>C (p.Asp245Ala)
c.668A>C (p.Asp223Ala)
c.587A>C (p.Asp196Ala)
n.944A>C
c.-86A>C (n.-86A>C)
4g.1002064A>GCA355962462IDUAc.875A>G (p.Asp292Gly)
n.931A>G
c.692A>G (p.Asp231Gly)
c.479A>G (p.Asp160Gly)
n.875A>G
n.963A>G
c.834A>G (p.Gly278=)
c.734A>G (p.Asp245Gly)
c.668A>G (p.Asp223Gly)
c.587A>G (p.Asp196Gly)
n.944A>G
c.-86A>G (n.-86A>G)
 gnomAD v4
4g.1002064A>TCA355962463IDUAc.875A>T (p.Asp292Val)
n.931A>T
c.692A>T (p.Asp231Val)
c.479A>T (p.Asp160Val)
n.875A>T
n.963A>T
c.834A>T (p.Gly278=)
c.734A>T (p.Asp245Val)
c.668A>T (p.Asp223Val)
c.587A>T (p.Asp196Val)
n.944A>T
c.-86A>T (n.-86A>T)
4g.1002064_1002065delinsACCA1433068593IDUAc.875_876delinsAC (p.Asp292=)
n.931_932delinsAC
c.692_693delinsAC (p.Asp231=)
c.479_480delinsAC (p.Asp160=)
n.875_876delinsAC
n.963_964delinsAC
c.834_835delinsAC (p.Gly278=)
c.734_735delinsAC (p.Asp245=)
c.668_669delinsAC (p.Asp223=)
c.587_588delinsAC (p.Asp196=)
n.944_945delinsAC
c.-86_-85delinsAC (n.-86_-85delinsAC)
4g.1002067_1002078dupCA2802114IDUAc.878_889dup (p.Tyr296_Asn297insThrProIleTyr)
n.934_945dup
c.482_493dup (p.Tyr164_Asn165insThrProIleTyr)
n.878_889dup
n.966_977dup
c.837_848dup (p.Leu282_Gln283insHisProHisLeu)
c.737_748dup (p.Tyr249_Asn250insThrProIleTyr)
c.671_682dup (p.Tyr227_Asn228insThrProIleTyr)
c.590_601dup (p.Tyr200_Asn201insThrProIleTyr)
n.947_958dup
c.-83_-72dup (n.-83_-72dup)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002065delCA658657370IDUAc.876del (p.Asp292GlufsTer25)
n.932del
c.693del (p.Asp231GlufsTer?)
c.480del (p.Asp160GlufsTer25)
n.876del
n.964del
c.835del (p.His279ThrfsTer?)
c.735del (p.Asp245GlufsTer25)
c.669del (p.Asp223GlufsTer25)
c.588del (p.Asp196GlufsTer25)
n.945del
c.-85del (n.-85del)
 ClinVar dbSNP gnomAD v4
4g.1002065C>ACA355962464IDUAc.876C>A (p.Asp292Glu)
n.932C>A
c.693C>A (p.Asp231Glu)
c.480C>A (p.Asp160Glu)
n.876C>A
n.964C>A
c.835C>A (p.His279Asn)
c.735C>A (p.Asp245Glu)
c.669C>A (p.Asp223Glu)
c.588C>A (p.Asp196Glu)
n.945C>A
c.-85C>A (n.-85C>A)
 gnomAD v4
4g.1002065C>GCA355962465IDUAc.876C>G (p.Asp292Glu)
n.932C>G
c.693C>G (p.Asp231Glu)
c.480C>G (p.Asp160Glu)
n.876C>G
n.964C>G
c.835C>G (p.His279Asp)
c.735C>G (p.Asp245Glu)
c.669C>G (p.Asp223Glu)
c.588C>G (p.Asp196Glu)
n.945C>G
c.-85C>G (n.-85C>G)
4g.1002065C>TCA438057496IDUAc.876C>T (p.Asp292=)
n.932C>T
c.693C>T (p.Asp231=)
c.480C>T (p.Asp160=)
n.876C>T
n.964C>T
c.835C>T (p.His279Tyr)
c.735C>T (p.Asp245=)
c.669C>T (p.Asp223=)
c.588C>T (p.Asp196=)
n.945C>T
c.-85C>T (n.-85C>T)
4g.1002066A>CCA355962468IDUAc.877A>C (p.Thr293Pro)
n.933A>C
c.694A>C (p.Thr232Pro)
c.481A>C (p.Thr161Pro)
n.877A>C
n.965A>C
c.836A>C (p.His279Pro)
c.736A>C (p.Thr246Pro)
c.670A>C (p.Thr224Pro)
c.589A>C (p.Thr197Pro)
n.946A>C
c.-84A>C (n.-84A>C)
 gnomAD v4 COSMIC COSMIC
4g.1002066A>GCA355962467IDUAc.877A>G (p.Thr293Ala)
n.933A>G
c.694A>G (p.Thr232Ala)
c.481A>G (p.Thr161Ala)
n.877A>G
n.965A>G
c.836A>G (p.His279Arg)
c.736A>G (p.Thr246Ala)
c.670A>G (p.Thr224Ala)
c.589A>G (p.Thr197Ala)
n.946A>G
c.-84A>G (n.-84A>G)
4g.1002066A>TCA355962466IDUAc.877A>T (p.Thr293Ser)
n.933A>T
c.694A>T (p.Thr232Ser)
c.481A>T (p.Thr161Ser)
n.877A>T
n.965A>T
c.836A>T (p.His279Leu)
c.736A>T (p.Thr246Ser)
c.670A>T (p.Thr224Ser)
c.589A>T (p.Thr197Ser)
n.946A>T
c.-84A>T (n.-84A>T)
4g.1002067C>ACA355962469IDUAc.878C>A (p.Thr293Asn)
n.934C>A
c.695C>A (p.Thr232Asn)
c.482C>A (p.Thr161Asn)
n.878C>A
n.966C>A
c.837C>A (p.His279Gln)
c.737C>A (p.Thr246Asn)
c.671C>A (p.Thr224Asn)
c.590C>A (p.Thr197Asn)
n.947C>A
c.-83C>A (n.-83C>A)
 gnomAD v4
4g.1002067C>GCA355962470IDUAc.878C>G (p.Thr293Ser)
n.934C>G
c.695C>G (p.Thr232Ser)
c.482C>G (p.Thr161Ser)
n.878C>G
n.966C>G
c.837C>G (p.His279Gln)
c.737C>G (p.Thr246Ser)
c.671C>G (p.Thr224Ser)
c.590C>G (p.Thr197Ser)
n.947C>G
c.-83C>G (n.-83C>G)
 gnomAD v4
4g.1002067C>TCA355962471IDUAc.878C>T (p.Thr293Ile)
n.934C>T
c.695C>T (p.Thr232Ile)
c.482C>T (p.Thr161Ile)
n.878C>T
n.966C>T
c.837C>T (p.His279=)
c.737C>T (p.Thr246Ile)
c.671C>T (p.Thr224Ile)
c.590C>T (p.Thr197Ile)
n.947C>T
c.-83C>T (n.-83C>T)
 gnomAD v4
4g.1002071dupCA2499217013IDUAc.882dup (p.Ile295HisfsTer?)
n.938dup
c.486dup (p.Ile163HisfsTer?)
n.882dup
n.970dup
c.841dup (p.His281ProfsTer23)
c.741dup (p.Ile248HisfsTer?)
c.675dup (p.Ile226HisfsTer?)
c.594dup (p.Ile199HisfsTer?)
n.951dup
c.-79dup (n.-79dup)
 ClinVar dbSNP
4g.1002071delCA2669480950IDUAc.882del (p.Ile295PhefsTer22)
n.938del
c.486del (p.Ile163PhefsTer22)
n.882del
n.970del
c.841del (p.His281IlefsTer?)
c.741del (p.Ile248PhefsTer22)
c.675del (p.Ile226PhefsTer22)
c.594del (p.Ile199PhefsTer22)
n.951del
c.-79del (n.-79del)
 gnomAD v4
4g.1002068C>ACA438057499IDUAc.879C>A (p.Thr293=)
n.935C>A
c.696C>A (p.Thr232=)
c.483C>A (p.Thr161=)
n.879C>A
n.967C>A
c.838C>A (p.Pro280Thr)
c.738C>A (p.Thr246=)
c.672C>A (p.Thr224=)
c.591C>A (p.Thr197=)
n.948C>A
c.-82C>A (n.-82C>A)
 ClinVar dbSNP gnomAD v4
4g.1002068C=CA1433068603IDUAc.879C= (p.Thr293=)
n.935C=
c.696C= (p.Thr232=)
c.483C= (p.Thr161=)
n.879C=
n.967C=
c.838C= (p.Pro280=)
c.738C= (p.Thr246=)
c.672C= (p.Thr224=)
c.591C= (p.Thr197=)
n.948C=
c.-82C= (n.-82C=)
4g.1002068C>GCA438057501IDUAc.879C>G (p.Thr293=)
n.935C>G
c.696C>G (p.Thr232=)
c.483C>G (p.Thr161=)
n.879C>G
n.967C>G
c.838C>G (p.Pro280Ala)
c.738C>G (p.Thr246=)
c.672C>G (p.Thr224=)
c.591C>G (p.Thr197=)
n.948C>G
c.-82C>G (n.-82C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002068C>TCA438057502IDUAc.879C>T (p.Thr293=)
n.935C>T
c.696C>T (p.Thr232=)
c.483C>T (p.Thr161=)
n.879C>T
n.967C>T
c.838C>T (p.Pro280Ser)
c.738C>T (p.Thr246=)
c.672C>T (p.Thr224=)
c.591C>T (p.Thr197=)
n.948C>T
c.-82C>T (n.-82C>T)
 gnomAD v4
4g.1002069C>ACA355962472IDUAc.880C>A (p.Pro294Thr)
n.936C>A
c.697C>A
c.484C>A (p.Pro162Thr)
n.880C>A
n.968C>A
c.839C>A (p.Pro280His)
c.739C>A (p.Pro247Thr)
c.673C>A (p.Pro225Thr)
c.592C>A (p.Pro198Thr)
n.949C>A
c.-81C>A (n.-81C>A)
 ClinVar gnomAD v4
4g.1002069C=CA1433068607IDUAc.880C= (p.Pro294=)
n.936C=
c.697C=
c.484C= (p.Pro162=)
n.880C=
n.968C=
c.839C= (p.Pro280=)
c.739C= (p.Pro247=)
c.673C= (p.Pro225=)
c.592C= (p.Pro198=)
n.949C=
c.-81C= (n.-81C=)
4g.1002069C>GCA355962473IDUAc.880C>G (p.Pro294Ala)
n.936C>G
c.697C>G
c.484C>G (p.Pro162Ala)
n.880C>G
n.968C>G
c.839C>G (p.Pro280Arg)
c.739C>G (p.Pro247Ala)
c.673C>G (p.Pro225Ala)
c.592C>G (p.Pro198Ala)
n.949C>G
c.-81C>G (n.-81C>G)
 dbSNP
4g.1002069C>TCA355962474IDUAc.880C>T (p.Pro294Ser)
n.936C>T
c.697C>T
c.484C>T (p.Pro162Ser)
n.880C>T
n.968C>T
c.839C>T (p.Pro280Leu)
c.739C>T (p.Pro247Ser)
c.673C>T (p.Pro225Ser)
c.592C>T (p.Pro198Ser)
n.949C>T
c.-81C>T (n.-81C>T)
 dbSNP gnomAD v4
4g.1002070C>ACA355962475IDUAc.881C>A (p.Pro294His)
n.937C>A
c.485C>A (p.Pro162His)
n.881C>A
n.969C>A
c.840C>A (p.Pro280=)
c.740C>A (p.Pro247His)
c.674C>A (p.Pro225His)
c.593C>A (p.Pro198His)
n.950C>A
c.-80C>A (n.-80C>A)
 gnomAD v4
4g.1002070C>GCA355962477IDUAc.881C>G (p.Pro294Arg)
n.937C>G
c.485C>G (p.Pro162Arg)
n.881C>G
n.969C>G
c.840C>G (p.Pro280=)
c.740C>G (p.Pro247Arg)
c.674C>G (p.Pro225Arg)
c.593C>G (p.Pro198Arg)
n.950C>G
c.-80C>G (n.-80C>G)
4g.1002070C>TCA355962476IDUAc.881C>T (p.Pro294Leu)
n.937C>T
c.485C>T (p.Pro162Leu)
n.881C>T
n.969C>T
c.840C>T (p.Pro280=)
c.740C>T (p.Pro247Leu)
c.674C>T (p.Pro225Leu)
c.593C>T (p.Pro198Leu)
n.950C>T
c.-80C>T (n.-80C>T)
 gnomAD v4
4g.1002071C>ACA2802115IDUAc.882C>A (p.Pro294=)
n.938C>A
c.486C>A (p.Pro162=)
n.882C>A
n.970C>A
c.841C>A (p.His281Asn)
c.741C>A (p.Pro247=)
c.675C>A (p.Pro225=)
c.594C>A (p.Pro198=)
n.951C>A
c.-79C>A (n.-79C>A)
 dbSNP ExAC
4g.1002071C=CA1433068609IDUAc.882C= (p.Pro294=)
n.938C=
c.486C= (p.Pro162=)
n.882C=
n.970C=
c.841C= (p.His281=)
c.741C= (p.Pro247=)
c.675C= (p.Pro225=)
c.594C= (p.Pro198=)
n.951C=
c.-79C= (n.-79C=)
4g.1002071C>GCA438057505IDUAc.882C>G (p.Pro294=)
n.938C>G
c.486C>G (p.Pro162=)
n.882C>G
n.970C>G
c.841C>G (p.His281Asp)
c.741C>G (p.Pro247=)
c.675C>G (p.Pro225=)
c.594C>G (p.Pro198=)
n.951C>G
c.-79C>G (n.-79C>G)
4g.1002071C>TCA438057507IDUAc.882C>T (p.Pro294=)
n.938C>T
c.486C>T (p.Pro162=)
n.882C>T
n.970C>T
c.841C>T (p.His281Tyr)
c.741C>T (p.Pro247=)
c.675C>T (p.Pro225=)
c.594C>T (p.Pro198=)
n.951C>T
c.-79C>T (n.-79C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.1002072A>CCA355962478IDUAc.883A>C (p.Ile295Leu)
n.939A>C
c.487A>C (p.Ile163Leu)
n.883A>C
n.971A>C
c.842A>C (p.His281Pro)
c.742A>C (p.Ile248Leu)
c.676A>C (p.Ile226Leu)
c.595A>C (p.Ile199Leu)
n.952A>C
c.-78A>C (n.-78A>C)
 gnomAD v4
4g.1002072A>GCA355962479IDUAc.883A>G (p.Ile295Val)
n.939A>G
c.487A>G (p.Ile163Val)
n.883A>G
n.971A>G
c.842A>G (p.His281Arg)
c.742A>G (p.Ile248Val)
c.676A>G (p.Ile226Val)
c.595A>G (p.Ile199Val)
n.952A>G
c.-78A>G (n.-78A>G)
4g.1002072A>TCA355962480IDUAc.883A>T (p.Ile295Phe)
n.939A>T
c.487A>T (p.Ile163Phe)
n.883A>T
n.971A>T
c.842A>T (p.His281Leu)
c.742A>T (p.Ile248Phe)
c.676A>T (p.Ile226Phe)
c.595A>T (p.Ile199Phe)
n.952A>T
c.-78A>T (n.-78A>T)
4g.1002073T>ACA355962481IDUAc.884T>A (p.Ile295Asn)
n.940T>A
c.488T>A (p.Ile163Asn)
n.884T>A
n.972T>A
c.843T>A (p.His281Gln)
c.743T>A (p.Ile248Asn)
c.677T>A (p.Ile226Asn)
c.596T>A (p.Ile199Asn)
n.953T>A
c.-77T>A (n.-77T>A)
4g.1002073T>CCA355962482IDUAc.884T>C (p.Ile295Thr)
n.940T>C
c.488T>C (p.Ile163Thr)
n.884T>C
n.972T>C
c.843T>C (p.His281=)
c.743T>C (p.Ile248Thr)
c.677T>C (p.Ile226Thr)
c.596T>C (p.Ile199Thr)
n.953T>C
c.-77T>C (n.-77T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.1002073T>GCA355962483IDUAc.884T>G (p.Ile295Ser)
n.940T>G
c.488T>G (p.Ile163Ser)
n.884T>G
n.972T>G
c.843T>G (p.His281Gln)
c.743T>G (p.Ile248Ser)
c.677T>G (p.Ile226Ser)
c.596T>G (p.Ile199Ser)
n.953T>G
c.-77T>G (n.-77T>G)
4g.1002073T=CA1433068611IDUAc.884T= (p.Ile295=)
n.940T=
c.488T= (p.Ile163=)
n.884T=
n.972T=
c.843T= (p.His281=)
c.743T= (p.Ile248=)
c.677T= (p.Ile226=)
c.596T= (p.Ile199=)
n.953T=
c.-77T= (n.-77T=)
4g.1002075dupCA913108036IDUAc.886dup (p.Tyr296LeufsTer?)
n.942dup
c.490dup (p.Tyr164LeufsTer?)
n.886dup
n.974dup
c.845dup (p.Leu282PhefsTer22)
c.745dup (p.Tyr249LeufsTer?)
c.679dup (p.Tyr227LeufsTer?)
c.598dup (p.Tyr200LeufsTer?)
n.955dup
c.-75dup (n.-75dup)
4g.1002074T>ACA438057509IDUAc.885T>A (p.Ile295=)
n.941T>A
c.489T>A (p.Ile163=)
n.885T>A
n.973T>A
c.844T>A (p.Leu282Ile)
c.744T>A (p.Ile248=)
c.678T>A (p.Ile226=)
c.597T>A (p.Ile199=)
n.954T>A
c.-76T>A (n.-76T>A)
4g.1002074T>CCA438057510IDUAc.885T>C (p.Ile295=)
n.941T>C
c.489T>C (p.Ile163=)
n.885T>C
n.973T>C
c.844T>C (p.Leu282=)
c.744T>C (p.Ile248=)
c.678T>C (p.Ile226=)
c.597T>C (p.Ile199=)
n.954T>C
c.-76T>C (n.-76T>C)
4g.1002074T>GCA355962484IDUAc.885T>G (p.Ile295Met)
n.941T>G
c.489T>G (p.Ile163Met)
n.885T>G
n.973T>G
c.844T>G (p.Leu282Val)
c.744T>G (p.Ile248Met)
c.678T>G (p.Ile226Met)
c.597T>G (p.Ile199Met)
n.954T>G
c.-76T>G (n.-76T>G)
 dbSNP
4g.1002074T=CA1433068613IDUAc.885T= (p.Ile295=)
n.941T=
c.489T= (p.Ile163=)
n.885T=
n.973T=
c.844T= (p.Leu282=)
c.744T= (p.Ile248=)
c.678T= (p.Ile226=)
c.597T= (p.Ile199=)
n.954T=
c.-76T= (n.-76T=)
4g.1002075T>ACA355962485IDUAc.886T>A (p.Tyr296Asn)
n.942T>A
c.490T>A (p.Tyr164Asn)
n.886T>A
n.974T>A
c.845T>A (p.Leu282Ter)
c.745T>A (p.Tyr249Asn)
c.679T>A (p.Tyr227Asn)
c.598T>A (p.Tyr200Asn)
n.955T>A
c.-75T>A (n.-75T>A)
4g.1002075T>CCA355962486IDUAc.886T>C (p.Tyr296His)
n.942T>C
c.490T>C (p.Tyr164His)
n.886T>C
n.974T>C
c.845T>C (p.Leu282Ser)
c.745T>C (p.Tyr249His)
c.679T>C (p.Tyr227His)
c.598T>C (p.Tyr200His)
n.955T>C
c.-75T>C (n.-75T>C)
 gnomAD v4
4g.1002075T>GCA355962487IDUAc.886T>G (p.Tyr296Asp)
n.942T>G
c.490T>G (p.Tyr164Asp)
n.886T>G
n.974T>G
c.845T>G (p.Leu282Ter)
c.745T>G (p.Tyr249Asp)
c.679T>G (p.Tyr227Asp)
c.598T>G (p.Tyr200Asp)
n.955T>G
c.-75T>G (n.-75T>G)
4g.1002075_1002083dupCA658823287IDUAc.886_894dup (p.Asp298_Glu299insTyrAsnAsp)
n.942_950dup
c.490_498dup (p.Asp166_Glu167insTyrAsnAsp)
n.886_894dup
n.974_982dup
c.845_853dup (p.Arg284_Arg285insLeuGlnArg)
c.745_753dup (p.Asp251_Glu252insTyrAsnAsp)
c.679_687dup (p.Asp229_Glu230insTyrAsnAsp)
c.598_606dup (p.Asp202_Glu203insTyrAsnAsp)
n.955_963dup
c.-75_-67dup (n.-75_-67dup)
 ClinVar dbSNP
4g.1002076A>CCA355962490IDUAc.887A>C (p.Tyr296Ser)
n.943A>C
c.491A>C (p.Tyr164Ser)
n.887A>C
n.975A>C
c.846A>C (p.Leu282Phe)
c.746A>C (p.Tyr249Ser)
c.680A>C (p.Tyr227Ser)
c.599A>C (p.Tyr200Ser)
n.956A>C
c.-74A>C (n.-74A>C)
4g.1002076A>GCA355962489IDUAc.887A>G (p.Tyr296Cys)
n.943A>G
c.491A>G (p.Tyr164Cys)
n.887A>G
n.975A>G
c.846A>G (p.Leu282=)
c.746A>G (p.Tyr249Cys)
c.680A>G (p.Tyr227Cys)
c.599A>G (p.Tyr200Cys)
n.956A>G
c.-74A>G (n.-74A>G)
 gnomAD v4
4g.1002076A>TCA355962488IDUAc.887A>T (p.Tyr296Phe)
n.943A>T
c.491A>T (p.Tyr164Phe)
n.887A>T
n.975A>T
c.846A>T (p.Leu282Phe)
c.746A>T (p.Tyr249Phe)
c.680A>T (p.Tyr227Phe)
c.599A>T (p.Tyr200Phe)
n.956A>T
c.-74A>T (n.-74A>T)
4g.1002077C>ACA355962492IDUAc.888C>A (p.Tyr296Ter)
n.944C>A
c.492C>A (p.Tyr164Ter)
n.888C>A
n.976C>A
c.847C>A (p.Gln283Lys)
c.747C>A (p.Tyr249Ter)
c.681C>A (p.Tyr227Ter)
c.600C>A (p.Tyr200Ter)
n.957C>A
c.-73C>A (n.-73C>A)
 gnomAD v4
4g.1002077C=CA1433068617IDUAc.888C= (p.Tyr296=)
n.944C=
c.492C= (p.Tyr164=)
n.888C=
n.976C=
c.847C= (p.Gln283=)
c.747C= (p.Tyr249=)
c.681C= (p.Tyr227=)
c.600C= (p.Tyr200=)
n.957C=
c.-73C= (n.-73C=)
4g.1002077C>GCA355962491IDUAc.888C>G (p.Tyr296Ter)
n.944C>G
c.492C>G (p.Tyr164Ter)
n.888C>G
n.976C>G
c.847C>G (p.Gln283Glu)
c.747C>G (p.Tyr249Ter)
c.681C>G (p.Tyr227Ter)
c.600C>G (p.Tyr200Ter)
n.957C>G
c.-73C>G (n.-73C>G)
4g.1002077C>TCA438057514IDUAc.888C>T (p.Tyr296=)
n.944C>T
c.492C>T (p.Tyr164=)
n.888C>T
n.976C>T
c.847C>T (p.Gln283Ter)
c.747C>T (p.Tyr249=)
c.681C>T (p.Tyr227=)
c.600C>T (p.Tyr200=)
n.957C>T
c.-73C>T (n.-73C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002078A>CCA355962493IDUAc.889A>C (p.Asn297His)
n.945A>C
c.493A>C (p.Asn165His)
n.889A>C
n.977A>C
c.848A>C (p.Gln283Pro)
c.748A>C (p.Asn250His)
c.682A>C (p.Asn228His)
c.601A>C (p.Asn201His)
n.958A>C
c.-72A>C (n.-72A>C)
4g.1002078A>GCA355962494IDUAc.889A>G (p.Asn297Asp)
n.945A>G
c.493A>G (p.Asn165Asp)
n.889A>G
n.977A>G
c.848A>G (p.Gln283Arg)
c.748A>G (p.Asn250Asp)
c.682A>G (p.Asn228Asp)
c.601A>G (p.Asn201Asp)
n.958A>G
c.-72A>G (n.-72A>G)
4g.1002078A>TCA355962495IDUAc.889A>T (p.Asn297Tyr)
n.945A>T
c.493A>T (p.Asn165Tyr)
n.889A>T
n.977A>T
c.848A>T (p.Gln283Leu)
c.748A>T (p.Asn250Tyr)
c.682A>T (p.Asn228Tyr)
c.601A>T (p.Asn201Tyr)
n.958A>T
c.-72A>T (n.-72A>T)
4g.1002079A>CCA355962496IDUAc.890A>C (p.Asn297Thr)
n.946A>C
c.494A>C (p.Asn165Thr)
n.890A>C
n.978A>C
c.849A>C (p.Gln283His)
c.749A>C (p.Asn250Thr)
c.683A>C (p.Asn228Thr)
c.602A>C (p.Asn201Thr)
n.959A>C
c.-71A>C (n.-71A>C)
4g.1002079A>GCA355962497IDUAc.890A>G (p.Asn297Ser)
n.946A>G
c.494A>G (p.Asn165Ser)
n.890A>G
n.978A>G
c.849A>G (p.Gln283=)
c.749A>G (p.Asn250Ser)
c.683A>G (p.Asn228Ser)
c.602A>G (p.Asn201Ser)
n.959A>G
c.-71A>G (n.-71A>G)
 gnomAD v4
4g.1002079A>TCA355962498IDUAc.890A>T (p.Asn297Ile)
n.946A>T
c.494A>T (p.Asn165Ile)
n.890A>T
n.978A>T
c.849A>T (p.Gln283His)
c.749A>T (p.Asn250Ile)
c.683A>T (p.Asn228Ile)
c.602A>T (p.Asn201Ile)
n.959A>T
c.-71A>T (n.-71A>T)
4g.1002080C>ACA355962499IDUAc.891C>A (p.Asn297Lys)
n.947C>A
c.495C>A (p.Asn165Lys)
n.891C>A
n.979C>A
c.850C>A (p.Arg284=)
c.750C>A (p.Asn250Lys)
c.684C>A (p.Asn228Lys)
c.603C>A (p.Asn201Lys)
n.960C>A
c.-70C>A (n.-70C>A)
 gnomAD v4
4g.1002080C=CA1433068625IDUAc.891C= (p.Asn297=)
n.947C=
c.495C= (p.Asn165=)
n.891C=
n.979C=
c.850C= (p.Arg284=)
c.750C= (p.Asn250=)
c.684C= (p.Asn228=)
c.603C= (p.Asn201=)
n.960C=
c.-70C= (n.-70C=)
4g.1002080C>GCA355962500IDUAc.891C>G (p.Asn297Lys)
n.947C>G
c.495C>G (p.Asn165Lys)
n.891C>G
n.979C>G
c.850C>G (p.Arg284Gly)
c.750C>G (p.Asn250Lys)
c.684C>G (p.Asn228Lys)
c.603C>G (p.Asn201Lys)
n.960C>G
c.-70C>G (n.-70C>G)
4g.1002080C>TCA145890IDUAc.891C>T (p.Asn297=)
n.947C>T
c.495C>T (p.Asn165=)
n.891C>T
n.979C>T
c.850C>T (p.Arg284Ter)
c.750C>T (p.Asn250=)
c.684C>T (p.Asn228=)
c.603C>T (p.Asn201=)
n.960C>T
c.-70C>T (n.-70C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002081G>ACA355962501IDUAc.892G>A (p.Asp298Asn)
n.948G>A
c.496G>A (p.Asp166Asn)
n.892G>A
n.980G>A
c.851G>A (p.Arg284Gln)
c.751G>A (p.Asp251Asn)
c.685G>A (p.Asp229Asn)
c.604G>A (p.Asp202Asn)
n.961G>A
c.-69G>A (n.-69G>A)
 dbSNP gnomAD v2 gnomAD v4
4g.1002081G>CCA355962502IDUAc.892G>C (p.Asp298His)
n.948G>C
c.496G>C (p.Asp166His)
n.892G>C
n.980G>C
c.851G>C (p.Arg284Pro)
c.751G>C (p.Asp251His)
c.685G>C (p.Asp229His)
c.604G>C (p.Asp202His)
n.961G>C
c.-69G>C (n.-69G>C)
4g.1002081G=CA1433068632IDUAc.892G= (p.Asp298=)
n.948G=
c.496G= (p.Asp166=)
n.892G=
n.980G=
c.851G= (p.Arg284=)
c.751G= (p.Asp251=)
c.685G= (p.Asp229=)
c.604G= (p.Asp202=)
n.961G=
c.-69G= (n.-69G=)
4g.1002081G>TCA355962503IDUAc.892G>T (p.Asp298Tyr)
n.948G>T
c.496G>T (p.Asp166Tyr)
n.892G>T
n.980G>T
c.851G>T (p.Arg284Leu)
c.751G>T (p.Asp251Tyr)
c.685G>T (p.Asp229Tyr)
c.604G>T (p.Asp202Tyr)
n.961G>T
c.-69G>T (n.-69G>T)
 gnomAD v4
4g.1002082A>CCA355962506IDUAc.893A>C (p.Asp298Ala)
n.949A>C
c.497A>C (p.Asp166Ala)
n.893A>C
n.981A>C
c.852A>C (p.Arg284=)
c.752A>C (p.Asp251Ala)
c.686A>C (p.Asp229Ala)
c.605A>C (p.Asp202Ala)
n.962A>C
c.-68A>C (n.-68A>C)
4g.1002082A>GCA355962504IDUAc.893A>G (p.Asp298Gly)
n.949A>G
c.497A>G (p.Asp166Gly)
n.893A>G
n.981A>G
c.852A>G (p.Arg284=)
c.752A>G (p.Asp251Gly)
c.686A>G (p.Asp229Gly)
c.605A>G (p.Asp202Gly)
n.962A>G
c.-68A>G (n.-68A>G)
 gnomAD v4
4g.1002082A>TCA355962505IDUAc.893A>T (p.Asp298Val)
n.949A>T
c.497A>T (p.Asp166Val)
n.893A>T
n.981A>T
c.852A>T (p.Arg284=)
c.752A>T (p.Asp251Val)
c.686A>T (p.Asp229Val)
c.605A>T (p.Asp202Val)
n.962A>T
c.-68A>T (n.-68A>T)
4g.1002083C>ACA355962507IDUAc.894C>A (p.Asp298Glu)
n.950C>A
c.498C>A (p.Asp166Glu)
n.894C>A
n.982C>A
c.853C>A (p.Arg285=)
c.753C>A (p.Asp251Glu)
c.687C>A (p.Asp229Glu)
c.606C>A (p.Asp202Glu)
n.963C>A
c.-67C>A (n.-67C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002083C=CA1433068635IDUAc.894C= (p.Asp298=)
n.950C=
c.498C= (p.Asp166=)
n.894C=
n.982C=
c.853C= (p.Arg285=)
c.753C= (p.Asp251=)
c.687C= (p.Asp229=)
c.606C= (p.Asp202=)
n.963C=
c.-67C= (n.-67C=)
4g.1002083C>GCA355962508IDUAc.894C>G (p.Asp298Glu)
n.950C>G
c.498C>G (p.Asp166Glu)
n.894C>G
n.982C>G
c.853C>G (p.Arg285Gly)
c.753C>G (p.Asp251Glu)
c.687C>G (p.Asp229Glu)
c.606C>G (p.Asp202Glu)
n.963C>G
c.-67C>G (n.-67C>G)
4g.1002083C>TCA91168452IDUAc.894C>T (p.Asp298=)
n.950C>T
c.498C>T (p.Asp166=)
n.894C>T
n.982C>T
c.853C>T (p.Arg285Ter)
c.753C>T (p.Asp251=)
c.687C>T (p.Asp229=)
c.606C>T (p.Asp202=)
n.963C>T
c.-67C>T (n.-67C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
4g.1002084G>ACA355962509IDUAc.895G>A (p.Glu299Lys)
n.951G>A
c.499G>A (p.Glu167Lys)
n.895G>A
n.983G>A
c.854G>A (p.Arg285Gln)
c.754G>A (p.Glu252Lys)
c.688G>A (p.Glu230Lys)
c.607G>A (p.Glu203Lys)
n.964G>A
c.-66G>A (n.-66G>A)
 gnomAD v4
4g.1002084G>CCA355962510IDUAc.895G>C (p.Glu299Gln)
n.951G>C
c.499G>C (p.Glu167Gln)
n.895G>C
n.983G>C
c.854G>C (p.Arg285Pro)
c.754G>C (p.Glu252Gln)
c.688G>C (p.Glu230Gln)
c.607G>C (p.Glu203Gln)
n.964G>C
c.-66G>C (n.-66G>C)
4g.1002084G=CA1433068640IDUAc.895G= (p.Glu299=)
n.951G=
c.499G= (p.Glu167=)
n.895G=
n.983G=
c.854G= (p.Arg285=)
c.754G= (p.Glu252=)
c.688G= (p.Glu230=)
c.607G= (p.Glu203=)
n.964G=
c.-66G= (n.-66G=)
4g.1002084G>TCA355962511IDUAc.895G>T (p.Glu299Ter)
n.951G>T
c.499G>T (p.Glu167Ter)
n.895G>T
n.983G>T
c.854G>T (p.Arg285Leu)
c.754G>T (p.Glu252Ter)
c.688G>T (p.Glu230Ter)
c.607G>T (p.Glu203Ter)
n.964G>T
c.-66G>T (n.-66G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1002085A>CCA355962512IDUAc.896A>C (p.Glu299Ala)
n.952A>C
c.500A>C (p.Glu167Ala)
n.896A>C
n.984A>C
c.855A>C (p.Arg285=)
c.755A>C (p.Glu252Ala)
c.689A>C (p.Glu230Ala)
c.608A>C (p.Glu203Ala)
n.965A>C
c.-65A>C (n.-65A>C)
4g.1002085A>GCA355962513IDUAc.896A>G (p.Glu299Gly)
n.952A>G
c.500A>G (p.Glu167Gly)
n.896A>G
n.984A>G
c.855A>G (p.Arg285=)
c.755A>G (p.Glu252Gly)
c.689A>G (p.Glu230Gly)
c.608A>G (p.Glu203Gly)
n.965A>G
c.-65A>G (n.-65A>G)
4g.1002085A>TCA355962514IDUAc.896A>T (p.Glu299Val)
n.952A>T
c.500A>T (p.Glu167Val)
n.896A>T
n.984A>T
c.855A>T (p.Arg285=)
c.755A>T (p.Glu252Val)
c.689A>T (p.Glu230Val)
c.608A>T (p.Glu203Val)
n.965A>T
c.-65A>T (n.-65A>T)
4g.1002086G>ACA438057520IDUAc.897G>A (p.Glu299=)
n.953G>A
c.501G>A (p.Glu167=)
n.897G>A
n.985G>A
c.856G>A (p.Gly286Ser)
c.756G>A (p.Glu252=)
c.690G>A (p.Glu230=)
c.609G>A (p.Glu203=)
n.966G>A
c.-64G>A (n.-64G>A)
4g.1002086G>CCA355962515IDUAc.897G>C (p.Glu299Asp)
n.953G>C
c.501G>C (p.Glu167Asp)
n.897G>C
n.985G>C
c.856G>C (p.Gly286Arg)
c.756G>C (p.Glu252Asp)
c.690G>C (p.Glu230Asp)
c.609G>C (p.Glu203Asp)
n.966G>C
c.-64G>C (n.-64G>C)
4g.1002086G=CA1433068645IDUAc.897G= (p.Glu299=)
n.953G=
c.501G= (p.Glu167=)
n.897G=
n.985G=
c.856G= (p.Gly286=)
c.756G= (p.Glu252=)
c.690G= (p.Glu230=)
c.609G= (p.Glu203=)
n.966G=
c.-64G= (n.-64G=)
4g.1002086G>TCA2802116IDUAc.897G>T (p.Glu299Asp)
n.953G>T
c.501G>T (p.Glu167Asp)
n.897G>T
n.985G>T
c.856G>T (p.Gly286Cys)
c.756G>T (p.Glu252Asp)
c.690G>T (p.Glu230Asp)
c.609G>T (p.Glu203Asp)
n.966G>T
c.-64G>T (n.-64G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002086_1002087dupCA2705031579IDUAc.897_898dup (p.Ala300GlyfsTer18)
n.953_954dup
c.501_502dup (p.Ala168GlyfsTer18)
n.897_898dup
n.985_986dup
c.856_857dup (p.Gly287AlafsTer?)
c.756_757dup (p.Ala253GlyfsTer18)
c.690_691dup (p.Ala231GlyfsTer18)
c.609_610dup (p.Ala204GlyfsTer18)
n.966_967dup
c.-64_-63dup (n.-64_-63dup)
 dbSNP
4g.1002087G>ACA121772IDUAc.898G>A (p.Ala300Thr)
n.954G>A
c.502G>A (p.Ala168Thr)
n.898G>A
n.986G>A
c.857G>A (p.Gly286Asp)
c.757G>A (p.Ala253Thr)
c.691G>A (p.Ala231Thr)
c.610G>A (p.Ala204Thr)
n.967G>A
c.-63G>A (n.-63G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1002087G>CCA355962516IDUAc.898G>C (p.Ala300Pro)
n.954G>C
c.502G>C (p.Ala168Pro)
n.898G>C
n.986G>C
c.857G>C (p.Gly286Ala)
c.757G>C (p.Ala253Pro)
c.691G>C (p.Ala231Pro)
c.610G>C (p.Ala204Pro)
n.967G>C
c.-63G>C (n.-63G>C)
4g.1002087G=CA1433068650IDUAc.898G= (p.Ala300=)
n.954G=
c.502G= (p.Ala168=)
n.898G=
n.986G=
c.857G= (p.Gly286=)
c.757G= (p.Ala253=)
c.691G= (p.Ala231=)
c.610G= (p.Ala204=)
n.967G=
c.-63G= (n.-63G=)
4g.1002087G>TCA355962517IDUAc.898G>T (p.Ala300Ser)
n.954G>T
c.502G>T (p.Ala168Ser)
n.898G>T
n.986G>T
c.857G>T (p.Gly286Val)
c.757G>T (p.Ala253Ser)
c.691G>T (p.Ala231Ser)
c.610G>T (p.Ala204Ser)
n.967G>T
c.-63G>T (n.-63G>T)
 gnomAD v4
4g.1002088C>ACA355962519IDUAc.899C>A (p.Ala300Glu)
n.955C>A
c.503C>A (p.Ala168Glu)
n.899C>A
n.987C>A
c.858C>A (p.Gly286=)
c.758C>A (p.Ala253Glu)
c.692C>A (p.Ala231Glu)
c.611C>A (p.Ala204Glu)
n.968C>A
c.-62C>A (n.-62C>A)
 gnomAD v4
4g.1002088C=CA1433068653IDUAc.899C= (p.Ala300=)
n.955C=
c.503C= (p.Ala168=)
n.899C=
n.987C=
c.858C= (p.Gly286=)
c.758C= (p.Ala253=)
c.692C= (p.Ala231=)
c.611C= (p.Ala204=)
n.968C=
c.-62C= (n.-62C=)
4g.1002088C>GCA355962520IDUAc.899C>G (p.Ala300Gly)
n.955C>G
c.503C>G (p.Ala168Gly)
n.899C>G
n.987C>G
c.858C>G (p.Gly286=)
c.758C>G (p.Ala253Gly)
c.692C>G (p.Ala231Gly)
c.611C>G (p.Ala204Gly)
n.968C>G
c.-62C>G (n.-62C>G)
 gnomAD v4
4g.1002088C>TCA355962518IDUAc.899C>T (p.Ala300Val)
n.955C>T
c.503C>T (p.Ala168Val)
n.899C>T
n.987C>T
c.858C>T (p.Gly286=)
c.758C>T (p.Ala253Val)
c.692C>T (p.Ala231Val)
c.611C>T (p.Ala204Val)
n.968C>T
c.-62C>T (n.-62C>T)
 dbSNP gnomAD v4
4g.1002089G>ACA438057521IDUAc.900G>A (p.Ala300=)
n.956G>A
c.504G>A (p.Ala168=)
n.900G>A
n.988G>A
c.859G>A (p.Gly287Arg)
c.759G>A (p.Ala253=)
c.693G>A (p.Ala231=)
c.612G>A (p.Ala204=)
n.969G>A
c.-61G>A (n.-61G>A)
 ClinVar dbSNP gnomAD v4
4g.1002089G>CCA438057522IDUAc.900G>C (p.Ala300=)
n.956G>C
c.504G>C (p.Ala168=)
n.900G>C
n.988G>C
c.859G>C (p.Gly287Arg)
c.759G>C (p.Ala253=)
c.693G>C (p.Ala231=)
c.612G>C (p.Ala204=)
n.969G>C
c.-61G>C (n.-61G>C)
4g.1002089G=CA1433068656IDUAc.900G= (p.Ala300=)
n.956G=
c.504G= (p.Ala168=)
n.900G=
n.988G=
c.859G= (p.Gly287=)
c.759G= (p.Ala253=)
c.693G= (p.Ala231=)
c.612G= (p.Ala204=)
n.969G=
c.-61G= (n.-61G=)
4g.1002089G>TCA438057523IDUAc.900G>T (p.Ala300=)
n.956G>T
c.504G>T (p.Ala168=)
n.900G>T
n.988G>T
c.859G>T (p.Gly287Ter)
c.759G>T (p.Ala253=)
c.693G>T (p.Ala231=)
c.612G>T (p.Ala204=)
n.969G>T
c.-61G>T (n.-61G>T)
 ClinVar gnomAD v4
4g.1002090G>ACA355962521IDUAc.901G>A (p.Asp301Asn)
n.957G>A
c.505G>A (p.Asp169Asn)
n.901G>A
n.989G>A
c.860G>A (p.Gly287Glu)
c.760G>A (p.Asp254Asn)
c.694G>A (p.Asp232Asn)
c.613G>A (p.Asp205Asn)
n.970G>A
c.-60G>A (n.-60G>A)
 dbSNP
4g.1002090G>CCA355962523IDUAc.901G>C (p.Asp301His)
n.957G>C
c.505G>C (p.Asp169His)
n.901G>C
n.989G>C
c.860G>C (p.Gly287Ala)
c.760G>C (p.Asp254His)
c.694G>C (p.Asp232His)
c.613G>C (p.Asp205His)
n.970G>C
c.-60G>C (n.-60G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.1002090G=CA1433068658IDUAc.901G= (p.Asp301=)
n.957G=
c.505G= (p.Asp169=)
n.901G=
n.989G=
c.860G= (p.Gly287=)
c.760G= (p.Asp254=)
c.694G= (p.Asp232=)
c.613G= (p.Asp205=)
n.970G=
c.-60G= (n.-60G=)
4g.1002090G>TCA355962522IDUAc.901G>T (p.Asp301Tyr)
n.957G>T
c.505G>T (p.Asp169Tyr)
n.901G>T
n.989G>T
c.860G>T (p.Gly287Val)
c.760G>T (p.Asp254Tyr)
c.694G>T (p.Asp232Tyr)
c.613G>T (p.Asp205Tyr)
n.970G>T
c.-60G>T (n.-60G>T)
4g.1002091A>CCA355962524IDUAc.902A>C (p.Asp301Ala)
n.958A>C
c.506A>C (p.Asp169Ala)
n.902A>C
n.990A>C
c.861A>C (p.Gly287=)
c.761A>C (p.Asp254Ala)
c.695A>C (p.Asp232Ala)
c.614A>C (p.Asp205Ala)
n.971A>C
c.-59A>C (n.-59A>C)
4g.1002091A>GCA355962525IDUAc.902A>G (p.Asp301Gly)
n.958A>G
c.506A>G (p.Asp169Gly)
n.902A>G
n.990A>G
c.861A>G (p.Gly287=)
c.761A>G (p.Asp254Gly)
c.695A>G (p.Asp232Gly)
c.614A>G (p.Asp205Gly)
n.971A>G
c.-59A>G (n.-59A>G)
 gnomAD v4
4g.1002091A>TCA355962526IDUAc.902A>T (p.Asp301Val)
n.958A>T
c.506A>T (p.Asp169Val)
n.902A>T
n.990A>T
c.861A>T (p.Gly287=)
c.761A>T (p.Asp254Val)
c.695A>T (p.Asp232Val)
c.614A>T (p.Asp205Val)
n.971A>T
c.-59A>T (n.-59A>T)
4g.1002092C>ACA355962527IDUAc.903C>A (p.Asp301Glu)
n.959C>A
c.507C>A (p.Asp169Glu)
n.903C>A
n.991C>A
c.862C>A (p.Pro288Thr)
c.762C>A (p.Asp254Glu)
c.696C>A (p.Asp232Glu)
c.615C>A (p.Asp205Glu)
n.972C>A
c.-58C>A (n.-58C>A)
 gnomAD v4
4g.1002092C=CA1433068662IDUAc.903C= (p.Asp301=)
n.959C=
c.507C= (p.Asp169=)
n.903C=
n.991C=
c.862C= (p.Pro288=)
c.762C= (p.Asp254=)
c.696C= (p.Asp232=)
c.615C= (p.Asp205=)
n.972C=
c.-58C= (n.-58C=)
4g.1002092C>GCA355962528IDUAc.903C>G (p.Asp301Glu)
n.959C>G
c.507C>G (p.Asp169Glu)
n.903C>G
n.991C>G
c.862C>G (p.Pro288Ala)
c.762C>G (p.Asp254Glu)
c.696C>G (p.Asp232Glu)
c.615C>G (p.Asp205Glu)
n.972C>G
c.-58C>G (n.-58C>G)
 ClinVar dbSNP
4g.1002092C>TCA2802117IDUAc.903C>T (p.Asp301=)
n.959C>T
c.507C>T (p.Asp169=)
n.903C>T
n.991C>T
c.862C>T (p.Pro288Ser)
c.762C>T (p.Asp254=)
c.696C>T (p.Asp232=)
c.615C>T (p.Asp205=)
n.972C>T
c.-58C>T (n.-58C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002094delCA2499217014IDUAc.905del (p.Pro302ArgfsTer15)
n.961del
c.509del (p.Pro170ArgfsTer15)
n.905del
n.993del
c.864del (p.Ala289LeufsTer?)
c.764del (p.Pro255ArgfsTer15)
c.698del (p.Pro233ArgfsTer15)
c.617del (p.Pro206ArgfsTer15)
n.974del
c.-56del (n.-56del)
 ClinVar dbSNP gnomAD v4
4g.1002093C>ACA355962529IDUAc.904C>A (p.Pro302Thr)
n.960C>A
c.508C>A (p.Pro170Thr)
n.904C>A
n.992C>A
c.863C>A (p.Pro288His)
c.763C>A (p.Pro255Thr)
c.697C>A (p.Pro233Thr)
c.616C>A (p.Pro206Thr)
n.973C>A
c.-57C>A (n.-57C>A)
 ClinVar dbSNP gnomAD v4
4g.1002093C=CA1433068672IDUAc.904C= (p.Pro302=)
n.960C=
c.508C= (p.Pro170=)
n.904C=
n.992C=
c.863C= (p.Pro288=)
c.763C= (p.Pro255=)
c.697C= (p.Pro233=)
c.616C= (p.Pro206=)
n.973C=
c.-57C= (n.-57C=)
4g.1002093C>GCA355962530IDUAc.904C>G (p.Pro302Ala)
n.960C>G
c.508C>G (p.Pro170Ala)
n.904C>G
n.992C>G
c.863C>G (p.Pro288Arg)
c.763C>G (p.Pro255Ala)
c.697C>G (p.Pro233Ala)
c.616C>G (p.Pro206Ala)
n.973C>G
c.-57C>G (n.-57C>G)
4g.1002093C>TCA355962531IDUAc.904C>T (p.Pro302Ser)
n.960C>T
c.508C>T (p.Pro170Ser)
n.904C>T
n.992C>T
c.863C>T (p.Pro288Leu)
c.763C>T (p.Pro255Ser)
c.697C>T (p.Pro233Ser)
c.616C>T (p.Pro206Ser)
n.973C>T
c.-57C>T (n.-57C>T)
 ClinVar dbSNP gnomAD v4
4g.1002094C>ACA355962532IDUAc.905C>A (p.Pro302Gln)
n.961C>A
c.509C>A (p.Pro170Gln)
n.905C>A
n.993C>A
c.864C>A (p.Pro288=)
c.764C>A (p.Pro255Gln)
c.698C>A (p.Pro233Gln)
c.617C>A (p.Pro206Gln)
n.974C>A
c.-56C>A (n.-56C>A)
4g.1002094C=CA1433068674IDUAc.905C= (p.Pro302=)
n.961C=
c.509C= (p.Pro170=)
n.905C=
n.993C=
c.864C= (p.Pro288=)
c.764C= (p.Pro255=)
c.698C= (p.Pro233=)
c.617C= (p.Pro206=)
n.974C=
c.-56C= (n.-56C=)
4g.1002094C>GCA2802118IDUAc.905C>G (p.Pro302Arg)
n.961C>G
c.509C>G (p.Pro170Arg)
n.905C>G
n.993C>G
c.864C>G (p.Pro288=)
c.764C>G (p.Pro255Arg)
c.698C>G (p.Pro233Arg)
c.617C>G (p.Pro206Arg)
n.974C>G
c.-56C>G (n.-56C>G)
 ClinVar dbSNP ExAC
4g.1002094C>TCA355962533IDUAc.905C>T (p.Pro302Leu)
n.961C>T
c.509C>T (p.Pro170Leu)
n.905C>T
n.993C>T
c.864C>T (p.Pro288=)
c.764C>T (p.Pro255Leu)
c.698C>T (p.Pro233Leu)
c.617C>T (p.Pro206Leu)
n.974C>T
c.-56C>T (n.-56C>T)
4g.1002095G>ACA438057524IDUAc.906G>A (p.Pro302=)
n.962G>A
c.510G>A (p.Pro170=)
n.906G>A
n.994G>A
c.865G>A (p.Ala289Thr)
c.765G>A (p.Pro255=)
c.699G>A (p.Pro233=)
c.618G>A (p.Pro206=)
n.975G>A
c.-55G>A (n.-55G>A)
 gnomAD v4
4g.1002095G>CCA438057525IDUAc.906G>C (p.Pro302=)
n.962G>C
c.510G>C (p.Pro170=)
n.906G>C
n.994G>C
c.865G>C (p.Ala289Pro)
c.765G>C (p.Pro255=)
c.699G>C (p.Pro233=)
c.618G>C (p.Pro206=)
n.975G>C
c.-55G>C (n.-55G>C)
 gnomAD v4
4g.1002095G>TCA438057526IDUAc.906G>T (p.Pro302=)
n.962G>T
c.510G>T (p.Pro170=)
n.906G>T
n.994G>T
c.865G>T (p.Ala289Ser)
c.765G>T (p.Pro255=)
c.699G>T (p.Pro233=)
c.618G>T (p.Pro206=)
n.975G>T
c.-55G>T (n.-55G>T)
 gnomAD v4
4g.1002096C>ACA355962535IDUAc.907C>A (p.Leu303Met)
n.963C>A
c.511C>A (p.Leu171Met)
n.907C>A
n.995C>A
c.866C>A (p.Ala289Asp)
c.766C>A (p.Leu256Met)
c.700C>A (p.Leu234Met)
c.619C>A (p.Leu207Met)
n.976C>A
c.-54C>A (n.-54C>A)
 gnomAD v4
4g.1002096C>GCA355962534IDUAc.907C>G (p.Leu303Val)
n.963C>G
c.511C>G (p.Leu171Val)
n.907C>G
n.995C>G
c.866C>G (p.Ala289Gly)
c.766C>G (p.Leu256Val)
c.700C>G (p.Leu234Val)
c.619C>G (p.Leu207Val)
n.976C>G
c.-54C>G (n.-54C>G)
4g.1002096C>TCA438057527IDUAc.907C>T (p.Leu303=)
n.963C>T
c.511C>T (p.Leu171=)
n.907C>T
n.995C>T
c.866C>T (p.Ala289Val)
c.766C>T (p.Leu256=)
c.700C>T (p.Leu234=)
c.619C>T (p.Leu207=)
n.976C>T
c.-54C>T (n.-54C>T)
4g.1002097T>ACA355962536IDUAc.908T>A (p.Leu303Gln)
n.964T>A
c.512T>A (p.Leu171Gln)
n.908T>A
n.996T>A
c.867T>A (p.Ala289=)
c.767T>A (p.Leu256Gln)
c.701T>A (p.Leu234Gln)
c.620T>A (p.Leu207Gln)
n.977T>A
c.-53T>A (n.-53T>A)
 gnomAD v4
4g.1002097T>CCA355962537IDUAc.908T>C (p.Leu303Pro)
n.964T>C
c.512T>C (p.Leu171Pro)
n.908T>C
n.996T>C
c.867T>C (p.Ala289=)
c.767T>C (p.Leu256Pro)
c.701T>C (p.Leu234Pro)
c.620T>C (p.Leu207Pro)
n.977T>C
c.-53T>C (n.-53T>C)
 dbSNP gnomAD v3 gnomAD v4
4g.1002097T>GCA355962538IDUAc.908T>G (p.Leu303Arg)
n.964T>G
c.512T>G (p.Leu171Arg)
n.908T>G
n.996T>G
c.867T>G (p.Ala289=)
c.767T>G (p.Leu256Arg)
c.701T>G (p.Leu234Arg)
c.620T>G (p.Leu207Arg)
n.977T>G
c.-53T>G (n.-53T>G)
4g.1002097T=CA1433068678IDUAc.908T= (p.Leu303=)
n.964T=
c.512T= (p.Leu171=)
n.908T=
n.996T=
c.867T= (p.Ala289=)
c.767T= (p.Leu256=)
c.701T= (p.Leu234=)
c.620T= (p.Leu207=)
n.977T=
c.-53T= (n.-53T=)
4g.1002098G>ACA438057528IDUAc.909G>A (p.Leu303=)
n.965G>A
c.513G>A (p.Leu171=)
n.909G>A
n.997G>A
c.868G>A (p.Gly290Ser)
c.768G>A (p.Leu256=)
c.702G>A (p.Leu234=)
c.621G>A (p.Leu207=)
n.978G>A
c.-52G>A (n.-52G>A)
 gnomAD v4
4g.1002098G>CCA438057529IDUAc.909G>C (p.Leu303=)
n.965G>C
c.513G>C (p.Leu171=)
n.909G>C
n.997G>C
c.868G>C (p.Gly290Arg)
c.768G>C (p.Leu256=)
c.702G>C (p.Leu234=)
c.621G>C (p.Leu207=)
n.978G>C
c.-52G>C (n.-52G>C)
4g.1002098G>TCA438057530IDUAc.909G>T (p.Leu303=)
n.965G>T
c.513G>T (p.Leu171=)
n.909G>T
n.997G>T
c.868G>T (p.Gly290Cys)
c.768G>T (p.Leu256=)
c.702G>T (p.Leu234=)
c.621G>T (p.Leu207=)
n.978G>T
c.-52G>T (n.-52G>T)
 gnomAD v4
4g.1002099delCA2499217015IDUAc.910del (p.Val304TrpfsTer13)
n.966del
c.514del (p.Val172TrpfsTer13)
n.910del
n.998del
c.869del (p.Gly290ValfsTer?)
c.769del (p.Val257TrpfsTer13)
c.703del (p.Val235TrpfsTer13)
c.622del (p.Val208TrpfsTer13)
n.979del
c.-51del (n.-51del)
 ClinVar dbSNP
4g.1002099G>ACA355962539IDUAc.910G>A (p.Val304Met)
n.966G>A
c.514G>A (p.Val172Met)
n.910G>A
n.998G>A
c.869G>A (p.Gly290Asp)
c.769G>A (p.Val257Met)
c.703G>A (p.Val235Met)
c.622G>A (p.Val208Met)
n.979G>A
c.-51G>A (n.-51G>A)
4g.1002099G>CCA355962540IDUAc.910G>C (p.Val304Leu)
n.966G>C
c.514G>C (p.Val172Leu)
n.910G>C
n.998G>C
c.869G>C (p.Gly290Ala)
c.769G>C (p.Val257Leu)
c.703G>C (p.Val235Leu)
c.622G>C (p.Val208Leu)
n.979G>C
c.-51G>C (n.-51G>C)
4g.1002099G>TCA355962541IDUAc.910G>T (p.Val304Leu)
n.966G>T
c.514G>T (p.Val172Leu)
n.910G>T
n.998G>T
c.869G>T (p.Gly290Val)
c.769G>T (p.Val257Leu)
c.703G>T (p.Val235Leu)
c.622G>T (p.Val208Leu)
n.979G>T
c.-51G>T (n.-51G>T)
4g.1002100delCA2573052265IDUAc.911del (p.Val304GlyfsTer13)
n.967del
c.515del (p.Val172GlyfsTer13)
n.911del
n.999del
c.870del (p.Leu292TrpfsTer?)
c.770del (p.Val257GlyfsTer13)
c.704del (p.Val235GlyfsTer13)
c.623del (p.Val208GlyfsTer13)
n.980del
c.-50del (n.-50del)
 ClinVar dbSNP
4g.1002100T>ACA355962542IDUAc.911T>A (p.Val304Glu)
n.967T>A
c.515T>A (p.Val172Glu)
n.911T>A
n.999T>A
c.870T>A (p.Gly290=)
c.770T>A (p.Val257Glu)
c.704T>A (p.Val235Glu)
c.623T>A (p.Val208Glu)
n.980T>A
c.-50T>A (n.-50T>A)
4g.1002100T>CCA355962543IDUAc.911T>C (p.Val304Ala)
n.967T>C
c.515T>C (p.Val172Ala)
n.911T>C
n.999T>C
c.870T>C (p.Gly290=)
c.770T>C (p.Val257Ala)
c.704T>C (p.Val235Ala)
c.623T>C (p.Val208Ala)
n.980T>C
c.-50T>C (n.-50T>C)
4g.1002100T>GCA355962544IDUAc.911T>G (p.Val304Gly)
n.967T>G
c.515T>G (p.Val172Gly)
n.911T>G
n.999T>G
c.870T>G (p.Gly290=)
c.770T>G (p.Val257Gly)
c.704T>G (p.Val235Gly)
c.623T>G (p.Val208Gly)
n.980T>G
c.-50T>G (n.-50T>G)
4g.1002101G>ACA438057531IDUAc.912G>A (p.Val304=)
n.968G>A
c.516G>A (p.Val172=)
n.912G>A
n.1000G>A
c.871G>A (p.Gly291Arg)
c.771G>A (p.Val257=)
c.705G>A (p.Val235=)
c.624G>A (p.Val208=)
n.981G>A
c.-49G>A (n.-49G>A)
 gnomAD v4
4g.1002101G>CCA438057532IDUAc.912G>C (p.Val304=)
n.968G>C
c.516G>C (p.Val172=)
n.912G>C
n.1000G>C
c.871G>C (p.Gly291Arg)
c.771G>C (p.Val257=)
c.705G>C (p.Val235=)
c.624G>C (p.Val208=)
n.981G>C
c.-49G>C (n.-49G>C)
 dbSNP gnomAD v3 gnomAD v4
4g.1002101G>TCA438057533IDUAc.912G>T (p.Val304=)
n.968G>T
c.516G>T (p.Val172=)
n.912G>T
n.1000G>T
c.871G>T (p.Gly291Trp)
c.771G>T (p.Val257=)
c.705G>T (p.Val235=)
c.624G>T (p.Val208=)
n.981G>T
c.-49G>T (n.-49G>T)
 gnomAD v4
4g.1002102G>ACA355962545IDUAc.913G>A (p.Gly305Ser)
n.969G>A
c.517G>A (p.Gly173Ser)
n.913G>A
n.1001G>A
c.872G>A (p.Gly291Glu)
c.772G>A (p.Gly258Ser)
c.706G>A (p.Gly236Ser)
c.625G>A (p.Gly209Ser)
n.982G>A
c.-48G>A (n.-48G>A)
 dbSNP gnomAD v3 gnomAD v4
4g.1002102G>CCA355962546IDUAc.913G>C (p.Gly305Arg)
n.969G>C
c.517G>C (p.Gly173Arg)
n.913G>C
n.1001G>C
c.872G>C (p.Gly291Ala)
c.772G>C (p.Gly258Arg)
c.706G>C (p.Gly236Arg)
c.625G>C (p.Gly209Arg)
n.982G>C
c.-48G>C (n.-48G>C)
4g.1002102G=CA1433068681IDUAc.913G= (p.Gly305=)
n.969G=
c.517G= (p.Gly173=)
n.913G=
n.1001G=
c.872G= (p.Gly291=)
c.772G= (p.Gly258=)
c.706G= (p.Gly236=)
c.625G= (p.Gly209=)
n.982G=
c.-48G= (n.-48G=)
4g.1002102G>TCA355962547IDUAc.913G>T (p.Gly305Cys)
n.969G>T
c.517G>T (p.Gly173Cys)
n.913G>T
n.1001G>T
c.872G>T (p.Gly291Val)
c.772G>T (p.Gly258Cys)
c.706G>T (p.Gly236Cys)
c.625G>T (p.Gly209Cys)
n.982G>T
c.-48G>T (n.-48G>T)
 gnomAD v4
4g.1002103G>ACA355962550IDUAc.914G>A (p.Gly305Asp)
n.970G>A
c.518G>A (p.Gly173Asp)
n.914G>A
n.1002G>A
c.873G>A (p.Gly291=)
c.773G>A (p.Gly258Asp)
c.707G>A (p.Gly236Asp)
c.626G>A (p.Gly209Asp)
n.983G>A
c.-47G>A (n.-47G>A)
4g.1002103G>CCA355962549IDUAc.914G>C (p.Gly305Ala)
n.970G>C
c.518G>C (p.Gly173Ala)
n.914G>C
n.1002G>C
c.873G>C (p.Gly291=)
c.773G>C (p.Gly258Ala)
c.707G>C (p.Gly236Ala)
c.626G>C (p.Gly209Ala)
n.983G>C
c.-47G>C (n.-47G>C)
4g.1002103G>TCA355962548IDUAc.914G>T (p.Gly305Val)
n.970G>T
c.518G>T (p.Gly173Val)
n.914G>T
n.1002G>T
c.873G>T (p.Gly291=)
c.773G>T (p.Gly258Val)
c.707G>T (p.Gly236Val)
c.626G>T (p.Gly209Val)
n.983G>T
c.-47G>T (n.-47G>T)
 gnomAD v4
4g.1002104C>ACA438057534IDUAc.915C>A (p.Gly305=)
n.971C>A
c.519C>A (p.Gly173=)
n.915C>A
n.1003C>A
c.874C>A (p.Leu292Met)
c.774C>A (p.Gly258=)
c.708C>A (p.Gly236=)
c.627C>A (p.Gly209=)
n.984C>A
c.-46C>A (n.-46C>A)
 ClinVar dbSNP gnomAD v4
4g.1002104C=CA1433068683IDUAc.915C= (p.Gly305=)
n.971C=
c.519C= (p.Gly173=)
n.915C=
n.1003C=
c.874C= (p.Leu292=)
c.774C= (p.Gly258=)
c.708C= (p.Gly236=)
c.627C= (p.Gly209=)
n.984C=
c.-46C= (n.-46C=)
4g.1002104C>GCA438057535IDUAc.915C>G (p.Gly305=)
n.971C>G
c.519C>G (p.Gly173=)
n.915C>G
n.1003C>G
c.874C>G (p.Leu292Val)
c.774C>G (p.Gly258=)
c.708C>G (p.Gly236=)
c.627C>G (p.Gly209=)
n.984C>G
c.-46C>G (n.-46C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002104C>TCA438057536IDUAc.915C>T (p.Gly305=)
n.971C>T
c.519C>T (p.Gly173=)
n.915C>T
n.1003C>T
c.874C>T (p.Leu292=)
c.774C>T (p.Gly258=)
c.708C>T (p.Gly236=)
c.627C>T (p.Gly209=)
n.984C>T
c.-46C>T (n.-46C>T)
 dbSNP gnomAD v4
4g.1002105T>ACA355962586IDUAc.916T>A (p.Trp306Arg)
n.972T>A
c.520T>A (p.Trp174Arg)
n.916T>A
n.1004T>A
c.875T>A (p.Leu292Gln)
c.775T>A (p.Trp259Arg)
c.709T>A (p.Trp237Arg)
c.628T>A (p.Trp210Arg)
n.985T>A
c.-45T>A (n.-45T>A)
4g.1002105T>CCA355962587IDUAc.916T>C (p.Trp306Arg)
n.972T>C
c.520T>C (p.Trp174Arg)
n.916T>C
n.1004T>C
c.875T>C (p.Leu292Pro)
c.775T>C (p.Trp259Arg)
c.709T>C (p.Trp237Arg)
c.628T>C (p.Trp210Arg)
n.985T>C
c.-45T>C (n.-45T>C)
 gnomAD v4
4g.1002105T>GCA355962590IDUAc.916T>G (p.Trp306Gly)
n.972T>G
c.520T>G (p.Trp174Gly)
n.916T>G
n.1004T>G
c.875T>G (p.Leu292Arg)
c.775T>G (p.Trp259Gly)
c.709T>G (p.Trp237Gly)
c.628T>G (p.Trp210Gly)
n.985T>G
c.-45T>G (n.-45T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002105T=CA1433068686IDUAc.916T= (p.Trp306=)
n.972T=
c.520T= (p.Trp174=)
n.916T=
n.1004T=
c.875T= (p.Leu292=)
c.775T= (p.Trp259=)
c.709T= (p.Trp237=)
c.628T= (p.Trp210=)
n.985T=
c.-45T= (n.-45T=)
4g.1002106G>ACA355962593IDUAc.917G>A (p.Trp306Ter)
n.973G>A
c.521G>A (p.Trp174Ter)
n.917G>A
n.1005G>A
c.876G>A (p.Leu292=)
c.776G>A (p.Trp259Ter)
c.710G>A (p.Trp237Ter)
c.629G>A (p.Trp210Ter)
n.986G>A
c.-44G>A (n.-44G>A)
 gnomAD v4
4g.1002106G>CCA355962594IDUAc.917G>C (p.Trp306Ser)
n.973G>C
c.521G>C (p.Trp174Ser)
n.917G>C
n.1005G>C
c.876G>C (p.Leu292=)
c.776G>C (p.Trp259Ser)
c.710G>C (p.Trp237Ser)
c.629G>C (p.Trp210Ser)
n.986G>C
c.-44G>C (n.-44G>C)
4g.1002106G>TCA355962596IDUAc.917G>T (p.Trp306Leu)
n.973G>T
c.521G>T (p.Trp174Leu)
n.917G>T
n.1005G>T
c.876G>T (p.Leu292=)
c.776G>T (p.Trp259Leu)
c.710G>T (p.Trp237Leu)
c.629G>T (p.Trp210Leu)
n.986G>T
c.-44G>T (n.-44G>T)
 ClinVar
4g.1002107G>ACA355962598IDUAc.918G>A (p.Trp306Ter)
n.974G>A
c.522G>A (p.Trp174Ter)
n.918G>A
n.1006G>A
c.877G>A (p.Val293Ile)
c.777G>A (p.Trp259Ter)
c.711G>A (p.Trp237Ter)
c.630G>A (p.Trp210Ter)
n.987G>A
c.-43G>A (n.-43G>A)
4g.1002107G>CCA355962601IDUAc.918G>C (p.Trp306Cys)
n.974G>C
c.522G>C (p.Trp174Cys)
n.918G>C
n.1006G>C
c.877G>C (p.Val293Leu)
c.777G>C (p.Trp259Cys)
c.711G>C (p.Trp237Cys)
c.630G>C (p.Trp210Cys)
n.987G>C
c.-43G>C (n.-43G>C)
4g.1002107G>TCA355962603IDUAc.918G>T (p.Trp306Cys)
n.974G>T
c.522G>T (p.Trp174Cys)
n.918G>T
n.1006G>T
c.877G>T (p.Val293Phe)
c.777G>T (p.Trp259Cys)
c.711G>T (p.Trp237Cys)
c.630G>T (p.Trp210Cys)
n.987G>T
c.-43G>T (n.-43G>T)
 gnomAD v4
4g.1002108T>ACA355962611IDUAc.919T>A (p.Ser307Thr)
n.975T>A
c.523T>A (p.Ser175Thr)
n.919T>A
n.1007T>A
c.878T>A (p.Val293Asp)
c.778T>A (p.Ser260Thr)
c.712T>A (p.Ser238Thr)
c.631T>A (p.Ser211Thr)
n.988T>A
c.-42T>A (n.-42T>A)
 gnomAD v4
4g.1002108T>CCA355962613IDUAc.919T>C (p.Ser307Pro)
n.975T>C
c.523T>C (p.Ser175Pro)
n.919T>C
n.1007T>C
c.878T>C (p.Val293Ala)
c.778T>C (p.Ser260Pro)
c.712T>C (p.Ser238Pro)
c.631T>C (p.Ser211Pro)
n.988T>C
c.-42T>C (n.-42T>C)
 dbSNP gnomAD v2 gnomAD v4
4g.1002108T>GCA355962615IDUAc.919T>G (p.Ser307Ala)
n.975T>G
c.523T>G (p.Ser175Ala)
n.919T>G
n.1007T>G
c.878T>G (p.Val293Gly)
c.778T>G (p.Ser260Ala)
c.712T>G (p.Ser238Ala)
c.631T>G (p.Ser211Ala)
n.988T>G
c.-42T>G (n.-42T>G)
4g.1002108T=CA1433068689IDUAc.919T= (p.Ser307=)
n.975T=
c.523T= (p.Ser175=)
n.919T=
n.1007T=
c.878T= (p.Val293=)
c.778T= (p.Ser260=)
c.712T= (p.Ser238=)
c.631T= (p.Ser211=)
n.988T=
c.-42T= (n.-42T=)
4g.1002109C>ACA355962622IDUAc.920C>A (p.Ser307Tyr)
n.976C>A
c.524C>A (p.Ser175Tyr)
n.920C>A
n.1008C>A
c.879C>A (p.Val293=)
c.779C>A (p.Ser260Tyr)
c.713C>A (p.Ser238Tyr)
c.632C>A (p.Ser211Tyr)
n.989C>A
c.-41C>A (n.-41C>A)
 gnomAD v4
4g.1002109C=CA1433068691IDUAc.920C= (p.Ser307=)
n.976C=
c.524C= (p.Ser175=)
n.920C=
n.1008C=
c.879C= (p.Val293=)
c.779C= (p.Ser260=)
c.713C= (p.Ser238=)
c.632C= (p.Ser211=)
n.989C=
c.-41C= (n.-41C=)
4g.1002109C>GCA355962621IDUAc.920C>G (p.Ser307Cys)
n.976C>G
c.524C>G (p.Ser175Cys)
n.920C>G
n.1008C>G
c.879C>G (p.Val293=)
c.779C>G (p.Ser260Cys)
c.713C>G (p.Ser238Cys)
c.632C>G (p.Ser211Cys)
n.989C>G
c.-41C>G (n.-41C>G)
4g.1002109C>TCA91168479IDUAc.920C>T (p.Ser307Phe)
n.976C>T
c.524C>T (p.Ser175Phe)
n.920C>T
n.1008C>T
c.879C>T (p.Val293=)
c.779C>T (p.Ser260Phe)
c.713C>T (p.Ser238Phe)
c.632C>T (p.Ser211Phe)
n.989C>T
c.-41C>T (n.-41C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
4g.1002110C>ACA438057537IDUAc.921C>A (p.Ser307=)
n.977C>A
c.525C>A (p.Ser175=)
n.921C>A
n.1009C>A
c.880C>A (p.Pro294Thr)
c.780C>A (p.Ser260=)
c.714C>A (p.Ser238=)
c.633C>A (p.Ser211=)
n.990C>A
c.-40C>A (n.-40C>A)
 gnomAD v4
4g.1002110C>GCA438057538IDUAc.921C>G (p.Ser307=)
n.977C>G
c.525C>G (p.Ser175=)
n.921C>G
n.1009C>G
c.880C>G (p.Pro294Ala)
c.780C>G (p.Ser260=)
c.714C>G (p.Ser238=)
c.633C>G (p.Ser211=)
n.990C>G
c.-40C>G (n.-40C>G)
4g.1002110C>TCA438057539IDUAc.921C>T (p.Ser307=)
n.977C>T
c.525C>T (p.Ser175=)
n.921C>T
n.1009C>T
c.880C>T (p.Pro294Ser)
c.780C>T (p.Ser260=)
c.714C>T (p.Ser238=)
c.633C>T (p.Ser211=)
n.990C>T
c.-40C>T (n.-40C>T)
 gnomAD v4
4g.1002111C>ACA355962623IDUAc.922C>A (p.Leu308Met)
n.978C>A
c.526C>A (p.Leu176Met)
n.922C>A
n.1010C>A
c.881C>A (p.Pro294His)
c.781C>A (p.Leu261Met)
c.715C>A (p.Leu239Met)
c.634C>A (p.Leu212Met)
n.991C>A
c.-39C>A (n.-39C>A)
4g.1002111C>GCA355962624IDUAc.922C>G (p.Leu308Val)
n.978C>G
c.526C>G (p.Leu176Val)
n.922C>G
n.1010C>G
c.881C>G (p.Pro294Arg)
c.781C>G (p.Leu261Val)
c.715C>G (p.Leu239Val)
c.634C>G (p.Leu212Val)
n.991C>G
c.-39C>G (n.-39C>G)
4g.1002111C>TCA438057540IDUAc.922C>T (p.Leu308=)
n.978C>T
c.526C>T (p.Leu176=)
n.922C>T
n.1010C>T
c.881C>T (p.Pro294Leu)
c.781C>T (p.Leu261=)
c.715C>T (p.Leu239=)
c.634C>T (p.Leu212=)
n.991C>T
c.-39C>T (n.-39C>T)
4g.1002112T>ACA355962627IDUAc.923T>A (p.Leu308Gln)
n.979T>A
c.527T>A (p.Leu176Gln)
n.923T>A
n.1011T>A
c.882T>A (p.Pro294=)
c.782T>A (p.Leu261Gln)
c.716T>A (p.Leu239Gln)
c.635T>A (p.Leu212Gln)
n.992T>A
c.-38T>A (n.-38T>A)
4g.1002112T>CCA2802119IDUAc.923T>C (p.Leu308Pro)
n.979T>C
c.527T>C (p.Leu176Pro)
n.923T>C
n.1011T>C
c.882T>C (p.Pro294=)
c.782T>C (p.Leu261Pro)
c.716T>C (p.Leu239Pro)
c.635T>C (p.Leu212Pro)
n.992T>C
c.-38T>C (n.-38T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002112T>GCA355962629IDUAc.923T>G (p.Leu308Arg)
n.979T>G
c.527T>G (p.Leu176Arg)
n.923T>G
n.1011T>G
c.882T>G (p.Pro294=)
c.782T>G (p.Leu261Arg)
c.716T>G (p.Leu239Arg)
c.635T>G (p.Leu212Arg)
n.992T>G
c.-38T>G (n.-38T>G)
 dbSNP gnomAD v2 gnomAD v4
4g.1002112T=CA1433068694IDUAc.923T= (p.Leu308=)
n.979T=
c.527T= (p.Leu176=)
n.923T=
n.1011T=
c.882T= (p.Pro294=)
c.782T= (p.Leu261=)
c.716T= (p.Leu239=)
c.635T= (p.Leu212=)
n.992T=
c.-38T= (n.-38T=)
4g.1002113G>ACA2802120IDUAc.924G>A (p.Leu308=)
n.980G>A
c.528G>A (p.Leu176=)
n.924G>A
n.1012G>A
c.883G>A (p.Ala295Thr)
c.783G>A (p.Leu261=)
c.717G>A (p.Leu239=)
c.636G>A (p.Leu212=)
n.993G>A
c.-37G>A (n.-37G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002113G>CCA2802121IDUAc.924G>C (p.Leu308=)
n.980G>C
c.528G>C (p.Leu176=)
n.924G>C
n.1012G>C
c.883G>C (p.Ala295Pro)
c.783G>C (p.Leu261=)
c.717G>C (p.Leu239=)
c.636G>C (p.Leu212=)
n.993G>C
c.-37G>C (n.-37G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.1002113G=CA1433068699IDUAc.924G= (p.Leu308=)
n.980G=
c.528G= (p.Leu176=)
n.924G=
n.1012G=
c.883G= (p.Ala295=)
c.783G= (p.Leu261=)
c.717G= (p.Leu239=)
c.636G= (p.Leu212=)
n.993G=
c.-37G= (n.-37G=)
4g.1002113G>TCA438057541IDUAc.924G>T (p.Leu308=)
n.980G>T
c.528G>T (p.Leu176=)
n.924G>T
n.1012G>T
c.883G>T (p.Ala295Ser)
c.783G>T (p.Leu261=)
c.717G>T (p.Leu239=)
c.636G>T (p.Leu212=)
n.993G>T
c.-37G>T (n.-37G>T)
 gnomAD v4
4g.1002114C>ACA2802122IDUAc.925C>A (p.Pro309Thr)
n.981C>A
c.529C>A (p.Pro177Thr)
n.925C>A
n.1013C>A
c.884C>A (p.Ala295Asp)
c.784C>A (p.Pro262Thr)
c.718C>A (p.Pro240Thr)
c.637C>A (p.Pro213Thr)
n.994C>A
c.-36C>A (n.-36C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.1002114C=CA1433068702IDUAc.925C= (p.Pro309=)
n.981C=
c.529C= (p.Pro177=)
n.925C=
n.1013C=
c.884C= (p.Ala295=)
c.784C= (p.Pro262=)
c.718C= (p.Pro240=)
c.637C= (p.Pro213=)
n.994C=
c.-36C= (n.-36C=)
4g.1002114C>GCA355962635IDUAc.925C>G (p.Pro309Ala)
n.981C>G
c.529C>G (p.Pro177Ala)
n.925C>G
n.1013C>G
c.884C>G (p.Ala295Gly)
c.784C>G (p.Pro262Ala)
c.718C>G (p.Pro240Ala)
c.637C>G (p.Pro213Ala)
n.994C>G
c.-36C>G (n.-36C>G)
4g.1002114C>TCA355962638IDUAc.925C>T (p.Pro309Ser)
n.981C>T
c.529C>T (p.Pro177Ser)
n.925C>T
n.1013C>T
c.884C>T (p.Ala295Val)
c.784C>T (p.Pro262Ser)
c.718C>T (p.Pro240Ser)
c.637C>T (p.Pro213Ser)
n.994C>T
c.-36C>T (n.-36C>T)
 gnomAD v4
4g.1002115C>ACA355962641IDUAc.926C>A (p.Pro309Gln)
n.982C>A
c.530C>A (p.Pro177Gln)
n.926C>A
n.1014C>A
c.885C>A (p.Ala295=)
c.785C>A (p.Pro262Gln)
c.719C>A (p.Pro240Gln)
c.638C>A (p.Pro213Gln)
n.995C>A
c.-35C>A (n.-35C>A)
 gnomAD v4
4g.1002115C>GCA355962643IDUAc.926C>G (p.Pro309Arg)
n.982C>G
c.530C>G (p.Pro177Arg)
n.926C>G
n.1014C>G
c.885C>G (p.Ala295=)
c.785C>G (p.Pro262Arg)
c.719C>G (p.Pro240Arg)
c.638C>G (p.Pro213Arg)
n.995C>G
c.-35C>G (n.-35C>G)
4g.1002115C>TCA355962645IDUAc.926C>T (p.Pro309Leu)
n.982C>T
c.530C>T (p.Pro177Leu)
n.926C>T
n.1014C>T
c.885C>T (p.Ala295=)
c.785C>T (p.Pro262Leu)
c.719C>T (p.Pro240Leu)
c.638C>T (p.Pro213Leu)
n.995C>T
c.-35C>T (n.-35C>T)
 gnomAD v4
4g.1002116A>CCA438057542IDUAc.927A>C (p.Pro309=)
n.983A>C
c.531A>C (p.Pro177=)
n.927A>C
n.1015A>C
c.886A>C (p.Thr296Pro)
c.786A>C (p.Pro262=)
c.720A>C (p.Pro240=)
c.639A>C (p.Pro213=)
n.996A>C
c.-34A>C (n.-34A>C)
4g.1002116A>GCA438057543IDUAc.927A>G (p.Pro309=)
n.983A>G
c.531A>G (p.Pro177=)
n.927A>G
n.1015A>G
c.886A>G (p.Thr296Ala)
c.786A>G (p.Pro262=)
c.720A>G (p.Pro240=)
c.639A>G (p.Pro213=)
n.996A>G
c.-34A>G (n.-34A>G)
 ClinVar gnomAD v4
4g.1002116A>TCA438057544IDUAc.927A>T (p.Pro309=)
n.983A>T
c.531A>T (p.Pro177=)
n.927A>T
n.1015A>T
c.886A>T (p.Thr296Ser)
c.786A>T (p.Pro262=)
c.720A>T (p.Pro240=)
c.639A>T (p.Pro213=)
n.996A>T
c.-34A>T (n.-34A>T)
 ClinVar gnomAD v4
4g.1002117C>ACA355962653IDUAc.928C>A (p.Gln310Lys)
n.984C>A
c.532C>A (p.Gln178Lys)
n.928C>A
n.1016C>A
c.887C>A (p.Thr296Lys)
c.787C>A (p.Gln263Lys)
c.721C>A (p.Gln241Lys)
c.640C>A (p.Gln214Lys)
n.997C>A
c.-33C>A (n.-33C>A)
4g.1002117C=CA1433068706IDUAc.928C= (p.Gln310=)
n.984C=
c.532C= (p.Gln178=)
n.928C=
n.1016C=
c.887C= (p.Thr296=)
c.787C= (p.Gln263=)
c.721C= (p.Gln241=)
c.640C= (p.Gln214=)
n.997C=
c.-33C= (n.-33C=)
4g.1002117C>GCA355962659IDUAc.928C>G (p.Gln310Glu)
n.984C>G
c.532C>G (p.Gln178Glu)
n.928C>G
n.1016C>G
c.887C>G (p.Thr296Arg)
c.787C>G (p.Gln263Glu)
c.721C>G (p.Gln241Glu)
c.640C>G (p.Gln214Glu)
n.997C>G
c.-33C>G (n.-33C>G)
4g.1002117C>TCA256115IDUAc.928C>T (p.Gln310Ter)
n.984C>T
c.532C>T (p.Gln178Ter)
n.928C>T
n.1016C>T
c.887C>T (p.Thr296Ile)
c.787C>T (p.Gln263Ter)
c.721C>T (p.Gln241Ter)
c.640C>T (p.Gln214Ter)
n.997C>T
c.-33C>T (n.-33C>T)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched