Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.98393909_98399093delCA2499216316CNGA3c.785-1935_*1838del
c.839-1935_*1838del
 ClinVar
2g.98395939G>ACA347832109CNGA3c.769G>A (p.Val257Ile)
c.781G>A (p.Val261Ile)
c.715G>A (p.Val239Ile)
c.880G>A (p.Val294Ile)
c.934G>A (p.Val312Ile)
 gnomAD v4
2g.98395939G>CCA347832110CNGA3c.769G>C (p.Val257Leu)
c.781G>C (p.Val261Leu)
c.715G>C (p.Val239Leu)
c.880G>C (p.Val294Leu)
c.934G>C (p.Val312Leu)
2g.98395939G>TCA347832111CNGA3c.769G>T (p.Val257Phe)
c.781G>T (p.Val261Phe)
c.715G>T (p.Val239Phe)
c.880G>T (p.Val294Phe)
c.934G>T (p.Val312Phe)
2g.98395940T>ACA347832112CNGA3c.770T>A (p.Val257Asp)
c.782T>A (p.Val261Asp)
c.716T>A (p.Val239Asp)
c.881T>A (p.Val294Asp)
c.935T>A (p.Val312Asp)
2g.98395940T>CCA347832113CNGA3c.770T>C (p.Val257Ala)
c.782T>C (p.Val261Ala)
c.716T>C (p.Val239Ala)
c.881T>C (p.Val294Ala)
c.935T>C (p.Val312Ala)
2g.98395940T>GCA347832114CNGA3c.770T>G (p.Val257Gly)
c.782T>G (p.Val261Gly)
c.716T>G (p.Val239Gly)
c.881T>G (p.Val294Gly)
c.935T>G (p.Val312Gly)
2g.98395941C>ACA427568359CNGA3c.771C>A (p.Val257=)
c.783C>A (p.Val261=)
c.717C>A (p.Val239=)
c.882C>A (p.Val294=)
c.936C>A (p.Val312=)
2g.98395941C=CA1273419688CNGA3c.771C= (p.Val257=)
c.783C= (p.Val261=)
c.717C= (p.Val239=)
c.882C= (p.Val294=)
c.936C= (p.Val312=)
2g.98395941C>GCA427568357CNGA3c.771C>G (p.Val257=)
c.783C>G (p.Val261=)
c.717C>G (p.Val239=)
c.882C>G (p.Val294=)
c.936C>G (p.Val312=)
 dbSNP
2g.98395941C>TCA427568361CNGA3c.771C>T (p.Val257=)
c.783C>T (p.Val261=)
c.717C>T (p.Val239=)
c.882C>T (p.Val294=)
c.936C>T (p.Val312=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395942C>ACA347832115CNGA3c.772C>A (p.Pro258Thr)
c.784C>A (p.Pro262Thr)
c.718C>A (p.Pro240Thr)
c.883C>A (p.Pro295Thr)
c.937C>A (p.Pro313Thr)
2g.98395942C=CA1273419689CNGA3c.772C= (p.Pro258=)
c.784C= (p.Pro262=)
c.718C= (p.Pro240=)
c.883C= (p.Pro295=)
c.937C= (p.Pro313=)
2g.98395942C>GCA347832116CNGA3c.772C>G (p.Pro258Ala)
c.784C>G (p.Pro262Ala)
c.718C>G (p.Pro240Ala)
c.883C>G (p.Pro295Ala)
c.937C>G (p.Pro313Ala)
 ClinVar dbSNP
2g.98395942C>TCA347832117CNGA3c.772C>T (p.Pro258Ser)
c.784C>T (p.Pro262Ser)
c.718C>T (p.Pro240Ser)
c.883C>T (p.Pro295Ser)
c.937C>T (p.Pro313Ser)
 dbSNP gnomAD v2
2g.98395943C>ACA347832118CNGA3c.773C>A (p.Pro258His)
c.785C>A (p.Pro262His)
c.719C>A (p.Pro240His)
c.884C>A (p.Pro295His)
c.938C>A (p.Pro313His)
2g.98395943C>GCA347832119CNGA3c.773C>G (p.Pro258Arg)
c.785C>G (p.Pro262Arg)
c.719C>G (p.Pro240Arg)
c.884C>G (p.Pro295Arg)
c.938C>G (p.Pro313Arg)
 gnomAD v4
2g.98395943C>TCA347832120CNGA3c.773C>T (p.Pro258Leu)
c.785C>T (p.Pro262Leu)
c.719C>T (p.Pro240Leu)
c.884C>T (p.Pro295Leu)
c.938C>T (p.Pro313Leu)
2g.98395944C>ACA427568370CNGA3c.774C>A (p.Pro258=)
c.786C>A (p.Pro262=)
c.720C>A (p.Pro240=)
c.885C>A (p.Pro295=)
c.939C>A (p.Pro313=)
2g.98395944C>GCA427568372CNGA3c.774C>G (p.Pro258=)
c.786C>G (p.Pro262=)
c.720C>G (p.Pro240=)
c.885C>G (p.Pro295=)
c.939C>G (p.Pro313=)
2g.98395944C>TCA427568374CNGA3c.774C>T (p.Pro258=)
c.786C>T (p.Pro262=)
c.720C>T (p.Pro240=)
c.885C>T (p.Pro295=)
c.939C>T (p.Pro313=)
2g.98395947_98395973delCA2699953463CNGA3c.777_803del (p.Asp260_Thr268del)
c.789_815del (p.Asp264_Thr272del)
c.723_749del (p.Asp242_Thr250del)
c.888_914del (p.Asp297_Thr305del)
c.942_968del (p.Asp315_Thr323del)
 dbSNP
2g.98395945A=CA1273419690CNGA3c.775A= (p.Thr259=)
c.787A= (p.Thr263=)
c.721A= (p.Thr241=)
c.886A= (p.Thr296=)
c.940A= (p.Thr314=)
2g.98395945A>CCA347832123CNGA3c.775A>C (p.Thr259Pro)
c.787A>C (p.Thr263Pro)
c.721A>C (p.Thr241Pro)
c.886A>C (p.Thr296Pro)
c.940A>C (p.Thr314Pro)
 ClinVar
2g.98395945A>GCA347832122CNGA3c.775A>G (p.Thr259Ala)
c.787A>G (p.Thr263Ala)
c.721A>G (p.Thr241Ala)
c.886A>G (p.Thr296Ala)
c.940A>G (p.Thr314Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.98395945A>TCA347832121CNGA3c.775A>T (p.Thr259Ser)
c.787A>T (p.Thr263Ser)
c.721A>T (p.Thr241Ser)
c.886A>T (p.Thr296Ser)
c.940A>T (p.Thr314Ser)
2g.98395946C>ACA347832124CNGA3c.776C>A (p.Thr259Asn)
c.788C>A (p.Thr263Asn)
c.722C>A (p.Thr241Asn)
c.887C>A (p.Thr296Asn)
c.941C>A (p.Thr314Asn)
2g.98395946C>GCA347832125CNGA3c.776C>G (p.Thr259Ser)
c.788C>G (p.Thr263Ser)
c.722C>G (p.Thr241Ser)
c.887C>G (p.Thr296Ser)
c.941C>G (p.Thr314Ser)
 gnomAD v4
2g.98395946C>TCA347832126CNGA3c.776C>T (p.Thr259Ile)
c.788C>T (p.Thr263Ile)
c.722C>T (p.Thr241Ile)
c.887C>T (p.Thr296Ile)
c.941C>T (p.Thr314Ile)
2g.98395947C>ACA1793889CNGA3c.777C>A (p.Thr259=)
c.789C>A (p.Thr263=)
c.723C>A (p.Thr241=)
c.888C>A (p.Thr296=)
c.942C>A (p.Thr314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395947C=CA1273419691CNGA3c.777C= (p.Thr259=)
c.789C= (p.Thr263=)
c.723C= (p.Thr241=)
c.888C= (p.Thr296=)
c.942C= (p.Thr314=)
2g.98395947C>GCA427568377CNGA3c.777C>G (p.Thr259=)
c.789C>G (p.Thr263=)
c.723C>G (p.Thr241=)
c.888C>G (p.Thr296=)
c.942C>G (p.Thr314=)
2g.98395947C>TCA1793888CNGA3c.777C>T (p.Thr259=)
c.789C>T (p.Thr263=)
c.723C>T (p.Thr241=)
c.888C>T (p.Thr296=)
c.942C>T (p.Thr314=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395948G>ACA1793891CNGA3c.778G>A (p.Asp260Asn)
c.790G>A (p.Asp264Asn)
c.724G>A (p.Asp242Asn)
c.889G>A (p.Asp297Asn)
c.943G>A (p.Asp315Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395948G>CCA1793892CNGA3c.778G>C (p.Asp260His)
c.790G>C (p.Asp264His)
c.724G>C (p.Asp242His)
c.889G>C (p.Asp297His)
c.943G>C (p.Asp315His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.98395948G=CA1273419692CNGA3c.778G= (p.Asp260=)
c.790G= (p.Asp264=)
c.724G= (p.Asp242=)
c.889G= (p.Asp297=)
c.943G= (p.Asp315=)
2g.98395948G>TCA347832127CNGA3c.778G>T (p.Asp260Tyr)
c.790G>T (p.Asp264Tyr)
c.724G>T (p.Asp242Tyr)
c.889G>T (p.Asp297Tyr)
c.943G>T (p.Asp315Tyr)
 COSMIC
2g.98395948dupCA1793890CNGA3c.778dup (p.Asp260GlyfsTer27)
c.790dup (p.Asp264GlyfsTer27)
c.724dup (p.Asp242GlyfsTer27)
c.889dup (p.Asp297GlyfsTer27)
c.943dup (p.Asp315GlyfsTer27)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395949A>CCA347832128CNGA3c.779A>C (p.Asp260Ala)
c.791A>C (p.Asp264Ala)
c.725A>C (p.Asp242Ala)
c.890A>C (p.Asp297Ala)
c.944A>C (p.Asp315Ala)
2g.98395949A>GCA347832129CNGA3c.779A>G (p.Asp260Gly)
c.791A>G (p.Asp264Gly)
c.725A>G (p.Asp242Gly)
c.890A>G (p.Asp297Gly)
c.944A>G (p.Asp315Gly)
2g.98395949A>TCA347832130CNGA3c.779A>T (p.Asp260Val)
c.791A>T (p.Asp264Val)
c.725A>T (p.Asp242Val)
c.890A>T (p.Asp297Val)
c.944A>T (p.Asp315Val)
2g.98395950C>ACA347832131CNGA3c.780C>A (p.Asp260Glu)
c.792C>A (p.Asp264Glu)
c.726C>A (p.Asp242Glu)
c.891C>A (p.Asp297Glu)
c.945C>A (p.Asp315Glu)
 gnomAD v4
2g.98395950C=CA1273419693CNGA3c.780C= (p.Asp260=)
c.792C= (p.Asp264=)
c.726C= (p.Asp242=)
c.891C= (p.Asp297=)
c.945C= (p.Asp315=)
2g.98395950C>GCA347832132CNGA3c.780C>G (p.Asp260Glu)
c.792C>G (p.Asp264Glu)
c.726C>G (p.Asp242Glu)
c.891C>G (p.Asp297Glu)
c.945C>G (p.Asp315Glu)
 dbSNP gnomAD v2 gnomAD v4
2g.98395950C>TCA427568390CNGA3c.780C>T (p.Asp260=)
c.792C>T (p.Asp264=)
c.726C>T (p.Asp242=)
c.891C>T (p.Asp297=)
c.945C>T (p.Asp315=)
 dbSNP gnomAD v2 gnomAD v4
2g.98395951C>ACA347832133CNGA3c.781C>A (p.Leu261Met)
c.793C>A (p.Leu265Met)
c.727C>A (p.Leu243Met)
c.892C>A (p.Leu298Met)
c.946C>A (p.Leu316Met)
2g.98395951C=CA1273419694CNGA3c.781C= (p.Leu261=)
c.793C= (p.Leu265=)
c.727C= (p.Leu243=)
c.892C= (p.Leu298=)
c.946C= (p.Leu316=)
2g.98395951C>GCA347832134CNGA3c.781C>G (p.Leu261Val)
c.793C>G (p.Leu265Val)
c.727C>G (p.Leu243Val)
c.892C>G (p.Leu298Val)
c.946C>G (p.Leu316Val)
 ClinVar COSMIC
2g.98395951C>TCA427568392CNGA3c.781C>T (p.Leu261=)
c.793C>T (p.Leu265=)
c.727C>T (p.Leu243=)
c.892C>T (p.Leu298=)
c.946C>T (p.Leu316=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395952T>ACA347832135CNGA3c.782T>A (p.Leu261Gln)
c.794T>A (p.Leu265Gln)
c.728T>A (p.Leu243Gln)
c.893T>A (p.Leu298Gln)
c.947T>A (p.Leu316Gln)
2g.98395952T>CCA347832136CNGA3c.782T>C (p.Leu261Pro)
c.794T>C (p.Leu265Pro)
c.728T>C (p.Leu243Pro)
c.893T>C (p.Leu298Pro)
c.947T>C (p.Leu316Pro)
 gnomAD v4
2g.98395952T>GCA347832137CNGA3c.782T>G (p.Leu261Arg)
c.794T>G (p.Leu265Arg)
c.728T>G (p.Leu243Arg)
c.893T>G (p.Leu298Arg)
c.947T>G (p.Leu316Arg)
2g.98395953G>ACA52635229CNGA3c.783G>A (p.Leu261=)
c.795G>A (p.Leu265=)
c.729G>A (p.Leu243=)
c.894G>A (p.Leu298=)
c.948G>A (p.Leu316=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98395953G>CCA427568402CNGA3c.783G>C (p.Leu261=)
c.795G>C (p.Leu265=)
c.729G>C (p.Leu243=)
c.894G>C (p.Leu298=)
c.948G>C (p.Leu316=)
2g.98395953G=CA1273419695CNGA3c.783G= (p.Leu261=)
c.795G= (p.Leu265=)
c.729G= (p.Leu243=)
c.894G= (p.Leu298=)
c.948G= (p.Leu316=)
2g.98395953G>TCA427568404CNGA3c.783G>T (p.Leu261=)
c.795G>T (p.Leu265=)
c.729G>T (p.Leu243=)
c.894G>T (p.Leu298=)
c.948G>T (p.Leu316=)
2g.98395954G>ACA1793893CNGA3c.784G>A (p.Ala262Thr)
c.796G>A (p.Ala266Thr)
c.730G>A (p.Ala244Thr)
c.895G>A (p.Ala299Thr)
c.949G>A (p.Ala317Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395954G>CCA347832138CNGA3c.784G>C (p.Ala262Pro)
c.796G>C (p.Ala266Pro)
c.730G>C (p.Ala244Pro)
c.895G>C (p.Ala299Pro)
c.949G>C (p.Ala317Pro)
2g.98395954G=CA1273419696CNGA3c.784G= (p.Ala262=)
c.796G= (p.Ala266=)
c.730G= (p.Ala244=)
c.895G= (p.Ala299=)
c.949G= (p.Ala317=)
2g.98395954G>TCA347832139CNGA3c.784G>T (p.Ala262Ser)
c.796G>T (p.Ala266Ser)
c.730G>T (p.Ala244Ser)
c.895G>T (p.Ala299Ser)
c.949G>T (p.Ala317Ser)
2g.98395955C>ACA347832140CNGA3c.785C>A (p.Ala262Asp)
c.797C>A (p.Ala266Asp)
c.731C>A (p.Ala244Asp)
c.896C>A (p.Ala299Asp)
c.950C>A (p.Ala317Asp)
2g.98395955C=CA1273419697CNGA3c.785C= (p.Ala262=)
c.797C= (p.Ala266=)
c.731C= (p.Ala244=)
c.896C= (p.Ala299=)
c.950C= (p.Ala317=)
2g.98395955C>GCA347832141CNGA3c.785C>G (p.Ala262Gly)
c.797C>G (p.Ala266Gly)
c.731C>G (p.Ala244Gly)
c.896C>G (p.Ala299Gly)
c.950C>G (p.Ala317Gly)
2g.98395955C>TCA347832142CNGA3c.785C>T (p.Ala262Val)
c.797C>T (p.Ala266Val)
c.731C>T (p.Ala244Val)
c.896C>T (p.Ala299Val)
c.950C>T (p.Ala317Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.98395956T>ACA427568413CNGA3c.786T>A (p.Ala262=)
c.798T>A (p.Ala266=)
c.732T>A (p.Ala244=)
c.897T>A (p.Ala299=)
c.951T>A (p.Ala317=)
2g.98395956T>CCA427568415CNGA3c.786T>C (p.Ala262=)
c.798T>C (p.Ala266=)
c.732T>C (p.Ala244=)
c.897T>C (p.Ala299=)
c.951T>C (p.Ala317=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395956T>GCA427568417CNGA3c.786T>G (p.Ala262=)
c.798T>G (p.Ala266=)
c.732T>G (p.Ala244=)
c.897T>G (p.Ala299=)
c.951T>G (p.Ala317=)
2g.98395956T=CA1273419698CNGA3c.786T= (p.Ala262=)
c.798T= (p.Ala266=)
c.732T= (p.Ala244=)
c.897T= (p.Ala299=)
c.951T= (p.Ala317=)
2g.98395957T>ACA347832143CNGA3c.787T>A (p.Tyr263Asn)
c.799T>A (p.Tyr267Asn)
c.733T>A (p.Tyr245Asn)
c.898T>A (p.Tyr300Asn)
c.952T>A (p.Tyr318Asn)
2g.98395957T>CCA347832144CNGA3c.787T>C (p.Tyr263His)
c.799T>C (p.Tyr267His)
c.733T>C (p.Tyr245His)
c.898T>C (p.Tyr300His)
c.952T>C (p.Tyr318His)
2g.98395957T>GCA52635235CNGA3c.787T>G (p.Tyr263Asp)
c.799T>G (p.Tyr267Asp)
c.733T>G (p.Tyr245Asp)
c.898T>G (p.Tyr300Asp)
c.952T>G (p.Tyr318Asp)
 ClinVar dbSNP gnomAD v4
2g.98395957T=CA1273419699CNGA3c.787T= (p.Tyr263=)
c.799T= (p.Tyr267=)
c.733T= (p.Tyr245=)
c.898T= (p.Tyr300=)
c.952T= (p.Tyr318=)
2g.98395958A>CCA347832145CNGA3c.788A>C (p.Tyr263Ser)
c.800A>C (p.Tyr267Ser)
c.734A>C (p.Tyr245Ser)
c.899A>C (p.Tyr300Ser)
c.953A>C (p.Tyr318Ser)
2g.98395958A>GCA347832147CNGA3c.788A>G (p.Tyr263Cys)
c.800A>G (p.Tyr267Cys)
c.734A>G (p.Tyr245Cys)
c.899A>G (p.Tyr300Cys)
c.953A>G (p.Tyr318Cys)
2g.98395958A>TCA347832146CNGA3c.788A>T (p.Tyr263Phe)
c.800A>T (p.Tyr267Phe)
c.734A>T (p.Tyr245Phe)
c.899A>T (p.Tyr300Phe)
c.953A>T (p.Tyr318Phe)
2g.98395959C>ACA347832148CNGA3c.789C>A (p.Tyr263Ter)
c.801C>A (p.Tyr267Ter)
c.735C>A (p.Tyr245Ter)
c.900C>A (p.Tyr300Ter)
c.954C>A (p.Tyr318Ter)
2g.98395959C>GCA347832149CNGA3c.789C>G (p.Tyr263Ter)
c.801C>G (p.Tyr267Ter)
c.735C>G (p.Tyr245Ter)
c.900C>G (p.Tyr300Ter)
c.954C>G (p.Tyr318Ter)
2g.98395959C>TCA427568429CNGA3c.789C>T (p.Tyr263=)
c.801C>T (p.Tyr267=)
c.735C>T (p.Tyr245=)
c.900C>T (p.Tyr300=)
c.954C>T (p.Tyr318=)
2g.98395960T>ACA1793894CNGA3c.790T>A (p.Leu264Ile)
c.802T>A (p.Leu268Ile)
c.736T>A (p.Leu246Ile)
c.901T>A (p.Leu301Ile)
c.955T>A (p.Leu319Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395960T>CCA427568434CNGA3c.790T>C (p.Leu264=)
c.802T>C (p.Leu268=)
c.736T>C (p.Leu246=)
c.901T>C (p.Leu301=)
c.955T>C (p.Leu319=)
2g.98395960T>GCA347832150CNGA3c.790T>G (p.Leu264Val)
c.802T>G (p.Leu268Val)
c.736T>G (p.Leu246Val)
c.901T>G (p.Leu301Val)
c.955T>G (p.Leu319Val)
2g.98395960T=CA1273419700CNGA3c.790T= (p.Leu264=)
c.802T= (p.Leu268=)
c.736T= (p.Leu246=)
c.901T= (p.Leu301=)
c.955T= (p.Leu319=)
2g.98395961T>ACA347832151CNGA3c.791T>A (p.Leu264Ter)
c.803T>A (p.Leu268Ter)
c.737T>A (p.Leu246Ter)
c.902T>A (p.Leu301Ter)
c.956T>A (p.Leu319Ter)
2g.98395961T>CCA347832153CNGA3c.791T>C (p.Leu264Ser)
c.803T>C (p.Leu268Ser)
c.737T>C (p.Leu246Ser)
c.902T>C (p.Leu301Ser)
c.956T>C (p.Leu319Ser)
 dbSNP
2g.98395961T>GCA347832152CNGA3c.791T>G (p.Leu264Ter)
c.803T>G (p.Leu268Ter)
c.737T>G (p.Leu246Ter)
c.902T>G (p.Leu301Ter)
c.956T>G (p.Leu319Ter)
2g.98395961T=CA1273419701CNGA3c.791T= (p.Leu264=)
c.803T= (p.Leu268=)
c.737T= (p.Leu246=)
c.902T= (p.Leu301=)
c.956T= (p.Leu319=)
2g.98395962A>CCA347832154CNGA3c.792A>C (p.Leu264Phe)
c.804A>C (p.Leu268Phe)
c.738A>C (p.Leu246Phe)
c.903A>C (p.Leu301Phe)
c.957A>C (p.Leu319Phe)
2g.98395962A>GCA427568446CNGA3c.792A>G (p.Leu264=)
c.804A>G (p.Leu268=)
c.738A>G (p.Leu246=)
c.903A>G (p.Leu301=)
c.957A>G (p.Leu319=)
2g.98395962A>TCA347832155CNGA3c.792A>T (p.Leu264Phe)
c.804A>T (p.Leu268Phe)
c.738A>T (p.Leu246Phe)
c.903A>T (p.Leu301Phe)
c.957A>T (p.Leu319Phe)
2g.98395963A>CCA347832156CNGA3c.793A>C (p.Lys265Gln)
c.805A>C (p.Lys269Gln)
c.739A>C (p.Lys247Gln)
c.904A>C (p.Lys302Gln)
c.958A>C (p.Lys320Gln)
2g.98395963A>GCA347832157CNGA3c.793A>G (p.Lys265Glu)
c.805A>G (p.Lys269Glu)
c.739A>G (p.Lys247Glu)
c.904A>G (p.Lys302Glu)
c.958A>G (p.Lys320Glu)
2g.98395963A>TCA347832158CNGA3c.793A>T (p.Lys265Ter)
c.805A>T (p.Lys269Ter)
c.739A>T (p.Lys247Ter)
c.904A>T (p.Lys302Ter)
c.958A>T (p.Lys320Ter)
 gnomAD v4
2g.98395964A>CCA347832159CNGA3c.794A>C (p.Lys265Thr)
c.806A>C (p.Lys269Thr)
c.740A>C (p.Lys247Thr)
c.905A>C (p.Lys302Thr)
c.959A>C (p.Lys320Thr)
2g.98395964A>GCA347832160CNGA3c.794A>G (p.Lys265Arg)
c.806A>G (p.Lys269Arg)
c.740A>G (p.Lys247Arg)
c.905A>G (p.Lys302Arg)
c.959A>G (p.Lys320Arg)
2g.98395964A>TCA347832161CNGA3c.794A>T (p.Lys265Met)
c.806A>T (p.Lys269Met)
c.740A>T (p.Lys247Met)
c.905A>T (p.Lys302Met)
c.959A>T (p.Lys320Met)
2g.98395965G>ACA427568461CNGA3c.795G>A (p.Lys265=)
c.807G>A (p.Lys269=)
c.741G>A (p.Lys247=)
c.906G>A (p.Lys302=)
c.960G>A (p.Lys320=)
2g.98395965G>CCA347832162CNGA3c.795G>C (p.Lys265Asn)
c.807G>C (p.Lys269Asn)
c.741G>C (p.Lys247Asn)
c.906G>C (p.Lys302Asn)
c.960G>C (p.Lys320Asn)
2g.98395965G>TCA347832163CNGA3c.795G>T (p.Lys265Asn)
c.807G>T (p.Lys269Asn)
c.741G>T (p.Lys247Asn)
c.906G>T (p.Lys302Asn)
c.960G>T (p.Lys320Asn)
2g.98395966G>ACA1793895CNGA3c.796G>A (p.Val266Met)
c.808G>A (p.Val270Met)
c.742G>A (p.Val248Met)
c.907G>A (p.Val303Met)
c.961G>A (p.Val321Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395966G>CCA347832164CNGA3c.796G>C (p.Val266Leu)
c.808G>C (p.Val270Leu)
c.742G>C (p.Val248Leu)
c.907G>C (p.Val303Leu)
c.961G>C (p.Val321Leu)
2g.98395966G=CA1273419702CNGA3c.796G= (p.Val266=)
c.808G= (p.Val270=)
c.742G= (p.Val248=)
c.907G= (p.Val303=)
c.961G= (p.Val321=)
2g.98395966G>TCA347832165CNGA3c.796G>T (p.Val266Leu)
c.808G>T (p.Val270Leu)
c.742G>T (p.Val248Leu)
c.907G>T (p.Val303Leu)
c.961G>T (p.Val321Leu)
2g.98395967T>ACA347832166CNGA3c.797T>A (p.Val266Glu)
c.809T>A (p.Val270Glu)
c.743T>A (p.Val248Glu)
c.908T>A (p.Val303Glu)
c.962T>A (p.Val321Glu)
2g.98395967T>CCA347832168CNGA3c.797T>C (p.Val266Ala)
c.809T>C (p.Val270Ala)
c.743T>C (p.Val248Ala)
c.908T>C (p.Val303Ala)
c.962T>C (p.Val321Ala)
2g.98395967T>GCA347832167CNGA3c.797T>G (p.Val266Gly)
c.809T>G (p.Val270Gly)
c.743T>G (p.Val248Gly)
c.908T>G (p.Val303Gly)
c.962T>G (p.Val321Gly)
2g.98395968G>ACA427568472CNGA3c.798G>A (p.Val266=)
c.810G>A (p.Val270=)
c.744G>A (p.Val248=)
c.909G>A (p.Val303=)
c.963G>A (p.Val321=)
2g.98395968G>CCA1793896CNGA3c.798G>C (p.Val266=)
c.810G>C (p.Val270=)
c.744G>C (p.Val248=)
c.909G>C (p.Val303=)
c.963G>C (p.Val321=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395968G=CA1273419703CNGA3c.798G= (p.Val266=)
c.810G= (p.Val270=)
c.744G= (p.Val248=)
c.909G= (p.Val303=)
c.963G= (p.Val321=)
2g.98395968G>TCA427568474CNGA3c.798G>T (p.Val266=)
c.810G>T (p.Val270=)
c.744G>T (p.Val248=)
c.909G>T (p.Val303=)
c.963G>T (p.Val321=)
2g.98395969G>ACA347832169CNGA3c.799G>A (p.Gly267Ser)
c.811G>A (p.Gly271Ser)
c.745G>A (p.Gly249Ser)
c.910G>A (p.Gly304Ser)
c.964G>A (p.Gly322Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.98395969G>CCA347832170CNGA3c.799G>C (p.Gly267Arg)
c.811G>C (p.Gly271Arg)
c.745G>C (p.Gly249Arg)
c.910G>C (p.Gly304Arg)
c.964G>C (p.Gly322Arg)
2g.98395969G=CA1273419704CNGA3c.799G= (p.Gly267=)
c.811G= (p.Gly271=)
c.745G= (p.Gly249=)
c.910G= (p.Gly304=)
c.964G= (p.Gly322=)
2g.98395969G>TCA347832171CNGA3c.799G>T (p.Gly267Cys)
c.811G>T (p.Gly271Cys)
c.745G>T (p.Gly249Cys)
c.910G>T (p.Gly304Cys)
c.964G>T (p.Gly322Cys)
2g.98395970G>ACA52635247CNGA3c.800G>A (p.Gly267Asp)
c.812G>A (p.Gly271Asp)
c.746G>A (p.Gly249Asp)
c.911G>A (p.Gly304Asp)
c.965G>A (p.Gly322Asp)
 dbSNP
2g.98395970G>CCA347832172CNGA3c.800G>C (p.Gly267Ala)
c.812G>C (p.Gly271Ala)
c.746G>C (p.Gly249Ala)
c.911G>C (p.Gly304Ala)
c.965G>C (p.Gly322Ala)
2g.98395970G=CA1273419705CNGA3c.800G= (p.Gly267=)
c.812G= (p.Gly271=)
c.746G= (p.Gly249=)
c.911G= (p.Gly304=)
c.965G= (p.Gly322=)
2g.98395970G>TCA347832173CNGA3c.800G>T (p.Gly267Val)
c.812G>T (p.Gly271Val)
c.746G>T (p.Gly249Val)
c.911G>T (p.Gly304Val)
c.965G>T (p.Gly322Val)
 gnomAD v4
2g.98395971C>ACA427568482CNGA3c.801C>A (p.Gly267=)
c.813C>A (p.Gly271=)
c.747C>A (p.Gly249=)
c.912C>A (p.Gly304=)
c.966C>A (p.Gly322=)
 dbSNP gnomAD v4
2g.98395971C=CA1273419706CNGA3c.801C= (p.Gly267=)
c.813C= (p.Gly271=)
c.747C= (p.Gly249=)
c.912C= (p.Gly304=)
c.966C= (p.Gly322=)
2g.98395971C>GCA427568484CNGA3c.801C>G (p.Gly267=)
c.813C>G (p.Gly271=)
c.747C>G (p.Gly249=)
c.912C>G (p.Gly304=)
c.966C>G (p.Gly322=)
2g.98395971C>TCA427568486CNGA3c.801C>T (p.Gly267=)
c.813C>T (p.Gly271=)
c.747C>T (p.Gly249=)
c.912C>T (p.Gly304=)
c.966C>T (p.Gly322=)
2g.98395972A>CCA347832174CNGA3c.802A>C (p.Thr268Pro)
c.814A>C (p.Thr272Pro)
c.748A>C (p.Thr250Pro)
c.913A>C (p.Thr305Pro)
c.967A>C (p.Thr323Pro)
2g.98395972A>GCA347832175CNGA3c.802A>G (p.Thr268Ala)
c.814A>G (p.Thr272Ala)
c.748A>G (p.Thr250Ala)
c.913A>G (p.Thr305Ala)
c.967A>G (p.Thr323Ala)
2g.98395972A>TCA347832176CNGA3c.802A>T (p.Thr268Ser)
c.814A>T (p.Thr272Ser)
c.748A>T (p.Thr250Ser)
c.913A>T (p.Thr305Ser)
c.967A>T (p.Thr323Ser)
2g.98395973C>ACA347832179CNGA3c.803C>A (p.Thr268Lys)
c.815C>A (p.Thr272Lys)
c.749C>A (p.Thr250Lys)
c.914C>A (p.Thr305Lys)
c.968C>A (p.Thr323Lys)
2g.98395973C>GCA347832178CNGA3c.803C>G (p.Thr268Arg)
c.815C>G (p.Thr272Arg)
c.749C>G (p.Thr250Arg)
c.914C>G (p.Thr305Arg)
c.968C>G (p.Thr323Arg)
2g.98395973C>TCA347832177CNGA3c.803C>T (p.Thr268Ile)
c.815C>T (p.Thr272Ile)
c.749C>T (p.Thr250Ile)
c.914C>T (p.Thr305Ile)
c.968C>T (p.Thr323Ile)
2g.98395973_98395974delinsCACA1273419707CNGA3c.803_804delinsCA (p.Thr268=)
c.815_816delinsCA (p.Thr272=)
c.749_750delinsCA (p.Thr250=)
c.914_915delinsCA (p.Thr305=)
c.968_969delinsCA (p.Thr323=)
2g.98395974A=CA1273419708CNGA3c.804A= (p.Thr268=)
c.816A= (p.Thr272=)
c.750A= (p.Thr250=)
c.915A= (p.Thr305=)
c.969A= (p.Thr323=)
2g.98395974A>CCA427568495CNGA3c.804A>C (p.Thr268=)
c.816A>C (p.Thr272=)
c.750A>C (p.Thr250=)
c.915A>C (p.Thr305=)
c.969A>C (p.Thr323=)
2g.98395974A>GCA52635251CNGA3c.804A>G (p.Thr268=)
c.816A>G (p.Thr272=)
c.750A>G (p.Thr250=)
c.915A>G (p.Thr305=)
c.969A>G (p.Thr323=)
 dbSNP gnomAD v4
2g.98395974A>TCA427568497CNGA3c.804A>T (p.Thr268=)
c.816A>T (p.Thr272=)
c.750A>T (p.Thr250=)
c.915A>T (p.Thr305=)
c.969A>T (p.Thr323=)
 dbSNP gnomAD v3 gnomAD v4
2g.98395976delCA916605251CNGA3c.806del (p.Asn269ThrfsTer5)
c.818del (p.Asn273ThrfsTer5)
c.752del (p.Asn251ThrfsTer5)
c.917del (p.Asn306ThrfsTer5)
c.971del (p.Asn324ThrfsTer5)
 dbSNP
2g.98395975A>CCA347832182CNGA3c.805A>C (p.Asn269His)
c.817A>C (p.Asn273His)
c.751A>C (p.Asn251His)
c.916A>C (p.Asn306His)
c.970A>C (p.Asn324His)
 dbSNP gnomAD v3 gnomAD v4
2g.98395975A>GCA347832180CNGA3c.805A>G (p.Asn269Asp)
c.817A>G (p.Asn273Asp)
c.751A>G (p.Asn251Asp)
c.916A>G (p.Asn306Asp)
c.970A>G (p.Asn324Asp)
 gnomAD v4
2g.98395975A>TCA347832181CNGA3c.805A>T (p.Asn269Tyr)
c.817A>T (p.Asn273Tyr)
c.751A>T (p.Asn251Tyr)
c.916A>T (p.Asn306Tyr)
c.970A>T (p.Asn324Tyr)
2g.98395976A>CCA347832183CNGA3c.806A>C (p.Asn269Thr)
c.818A>C (p.Asn273Thr)
c.752A>C (p.Asn251Thr)
c.917A>C (p.Asn306Thr)
c.971A>C (p.Asn324Thr)
2g.98395976A>GCA347832184CNGA3c.806A>G (p.Asn269Ser)
c.818A>G (p.Asn273Ser)
c.752A>G (p.Asn251Ser)
c.917A>G (p.Asn306Ser)
c.971A>G (p.Asn324Ser)
2g.98395976A>TCA347832185CNGA3c.806A>T (p.Asn269Ile)
c.818A>T (p.Asn273Ile)
c.752A>T (p.Asn251Ile)
c.917A>T (p.Asn306Ile)
c.971A>T (p.Asn324Ile)
 gnomAD v4
2g.98395977C>ACA347832186CNGA3c.807C>A (p.Asn269Lys)
c.819C>A (p.Asn273Lys)
c.753C>A (p.Asn251Lys)
c.918C>A (p.Asn306Lys)
c.972C>A (p.Asn324Lys)
2g.98395977C>GCA347832187CNGA3c.807C>G (p.Asn269Lys)
c.819C>G (p.Asn273Lys)
c.753C>G (p.Asn251Lys)
c.918C>G (p.Asn306Lys)
c.972C>G (p.Asn324Lys)
2g.98395977C>TCA427568510CNGA3c.807C>T (p.Asn269=)
c.819C>T (p.Asn273=)
c.753C>T (p.Asn251=)
c.918C>T (p.Asn306=)
c.972C>T (p.Asn324=)
 gnomAD v4
2g.98395978T>ACA1793898CNGA3c.808T>A (p.Tyr270Asn)
c.820T>A (p.Tyr274Asn)
c.754T>A (p.Tyr252Asn)
c.919T>A (p.Tyr307Asn)
c.973T>A (p.Tyr325Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98395978T>CCA1793897CNGA3c.808T>C (p.Tyr270His)
c.820T>C (p.Tyr274His)
c.754T>C (p.Tyr252His)
c.919T>C (p.Tyr307His)
c.973T>C (p.Tyr325His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395978T>GCA347832188CNGA3c.808T>G (p.Tyr270Asp)
c.820T>G (p.Tyr274Asp)
c.754T>G (p.Tyr252Asp)
c.919T>G (p.Tyr307Asp)
c.973T>G (p.Tyr325Asp)
2g.98395978T=CA1273419709CNGA3c.808T= (p.Tyr270=)
c.820T= (p.Tyr274=)
c.754T= (p.Tyr252=)
c.919T= (p.Tyr307=)
c.973T= (p.Tyr325=)
2g.98395979A>CCA347832189CNGA3c.809A>C (p.Tyr270Ser)
c.821A>C (p.Tyr274Ser)
c.755A>C (p.Tyr252Ser)
c.920A>C (p.Tyr307Ser)
c.974A>C (p.Tyr325Ser)
2g.98395979A>GCA347832190CNGA3c.809A>G (p.Tyr270Cys)
c.821A>G (p.Tyr274Cys)
c.755A>G (p.Tyr252Cys)
c.920A>G (p.Tyr307Cys)
c.974A>G (p.Tyr325Cys)
2g.98395979A>TCA347832191CNGA3c.809A>T (p.Tyr270Phe)
c.821A>T (p.Tyr274Phe)
c.755A>T (p.Tyr252Phe)
c.920A>T (p.Tyr307Phe)
c.974A>T (p.Tyr325Phe)
2g.98395980C>ACA347832193CNGA3c.810C>A (p.Tyr270Ter)
c.822C>A (p.Tyr274Ter)
c.756C>A (p.Tyr252Ter)
c.921C>A (p.Tyr307Ter)
c.975C>A (p.Tyr325Ter)
2g.98395980C>GCA347832192CNGA3c.810C>G (p.Tyr270Ter)
c.822C>G (p.Tyr274Ter)
c.756C>G (p.Tyr252Ter)
c.921C>G (p.Tyr307Ter)
c.975C>G (p.Tyr325Ter)
2g.98395980C>TCA427568523CNGA3c.810C>T (p.Tyr270=)
c.822C>T (p.Tyr274=)
c.756C>T (p.Tyr252=)
c.921C>T (p.Tyr307=)
c.975C>T (p.Tyr325=)
 gnomAD v4
2g.98395981C>ACA1793900CNGA3c.811C>A (p.Pro271Thr)
c.823C>A (p.Pro275Thr)
c.757C>A (p.Pro253Thr)
c.922C>A (p.Pro308Thr)
c.976C>A (p.Pro326Thr)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC
2g.98395981C=CA1273419710CNGA3c.811C= (p.Pro271=)
c.823C= (p.Pro275=)
c.757C= (p.Pro253=)
c.922C= (p.Pro308=)
c.976C= (p.Pro326=)
2g.98395981C>GCA1793899CNGA3c.811C>G (p.Pro271Ala)
c.823C>G (p.Pro275Ala)
c.757C>G (p.Pro253Ala)
c.922C>G (p.Pro308Ala)
c.976C>G (p.Pro326Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98395981C>TCA347832194CNGA3c.811C>T (p.Pro271Ser)
c.823C>T (p.Pro275Ser)
c.757C>T (p.Pro253Ser)
c.922C>T (p.Pro308Ser)
c.976C>T (p.Pro326Ser)
2g.98395982C>ACA347832195CNGA3c.812C>A (p.Pro271Gln)
c.824C>A (p.Pro275Gln)
c.758C>A (p.Pro253Gln)
c.923C>A (p.Pro308Gln)
c.977C>A (p.Pro326Gln)
2g.98395982C>GCA347832196CNGA3c.812C>G (p.Pro271Arg)
c.824C>G (p.Pro275Arg)
c.758C>G (p.Pro253Arg)
c.923C>G (p.Pro308Arg)
c.977C>G (p.Pro326Arg)
2g.98395982C>TCA347832197CNGA3c.812C>T (p.Pro271Leu)
c.824C>T (p.Pro275Leu)
c.758C>T (p.Pro253Leu)
c.923C>T (p.Pro308Leu)
c.977C>T (p.Pro326Leu)
2g.98395983A=CA1273419711CNGA3c.813A= (p.Pro271=)
c.825A= (p.Pro275=)
c.759A= (p.Pro253=)
c.924A= (p.Pro308=)
c.978A= (p.Pro326=)
2g.98395983A>CCA427568533CNGA3c.813A>C (p.Pro271=)
c.825A>C (p.Pro275=)
c.759A>C (p.Pro253=)
c.924A>C (p.Pro308=)
c.978A>C (p.Pro326=)
2g.98395983A>GCA427568542CNGA3c.813A>G (p.Pro271=)
c.825A>G (p.Pro275=)
c.759A>G (p.Pro253=)
c.924A>G (p.Pro308=)
c.978A>G (p.Pro326=)
 dbSNP
2g.98395983A>TCA427568540CNGA3c.813A>T (p.Pro271=)
c.825A>T (p.Pro275=)
c.759A>T (p.Pro253=)
c.924A>T (p.Pro308=)
c.978A>T (p.Pro326=)
2g.98395984delCA2577045541CNGA3c.814del (p.Glu272LysfsTer2)
c.826del (p.Glu276LysfsTer2)
c.760del (p.Glu254LysfsTer2)
c.925del (p.Glu309LysfsTer2)
c.979del (p.Glu327LysfsTer2)
2g.98395984G>ACA347832198CNGA3c.814G>A (p.Glu272Lys)
c.826G>A (p.Glu276Lys)
c.760G>A (p.Glu254Lys)
c.925G>A (p.Glu309Lys)
c.979G>A (p.Glu327Lys)
2g.98395984G>CCA347832199CNGA3c.814G>C (p.Glu272Gln)
c.826G>C (p.Glu276Gln)
c.760G>C (p.Glu254Gln)
c.925G>C (p.Glu309Gln)
c.979G>C (p.Glu327Gln)
2g.98395984G>TCA347832200CNGA3c.814G>T (p.Glu272Ter)
c.826G>T (p.Glu276Ter)
c.760G>T (p.Glu254Ter)
c.925G>T (p.Glu309Ter)
c.979G>T (p.Glu327Ter)
 ClinVar
2g.98395985A>CCA347832201CNGA3c.815A>C (p.Glu272Ala)
c.827A>C (p.Glu276Ala)
c.761A>C (p.Glu254Ala)
c.926A>C (p.Glu309Ala)
c.980A>C (p.Glu327Ala)
2g.98395985A>GCA347832202CNGA3c.815A>G (p.Glu272Gly)
c.827A>G (p.Glu276Gly)
c.761A>G (p.Glu254Gly)
c.926A>G (p.Glu309Gly)
c.980A>G (p.Glu327Gly)
2g.98395985A>TCA347832203CNGA3c.815A>T (p.Glu272Val)
c.827A>T (p.Glu276Val)
c.761A>T (p.Glu254Val)
c.926A>T (p.Glu309Val)
c.980A>T (p.Glu327Val)
2g.98395986A>CCA347832204CNGA3c.816A>C (p.Glu272Asp)
c.828A>C (p.Glu276Asp)
c.762A>C (p.Glu254Asp)
c.927A>C (p.Glu309Asp)
c.981A>C (p.Glu327Asp)
2g.98395986A>GCA427568553CNGA3c.816A>G (p.Glu272=)
c.828A>G (p.Glu276=)
c.762A>G (p.Glu254=)
c.927A>G (p.Glu309=)
c.981A>G (p.Glu327=)
2g.98395986A>TCA347832205CNGA3c.816A>T (p.Glu272Asp)
c.828A>T (p.Glu276Asp)
c.762A>T (p.Glu254Asp)
c.927A>T (p.Glu309Asp)
c.981A>T (p.Glu327Asp)
2g.98395987G>ACA347832207CNGA3c.817G>A (p.Val273Met)
c.829G>A (p.Val277Met)
c.763G>A (p.Val255Met)
c.928G>A (p.Val310Met)
c.982G>A (p.Val328Met)
2g.98395987G>CCA347832208CNGA3c.817G>C (p.Val273Leu)
c.829G>C (p.Val277Leu)
c.763G>C (p.Val255Leu)
c.928G>C (p.Val310Leu)
c.982G>C (p.Val328Leu)
 dbSNP gnomAD v2 gnomAD v4
2g.98395987G=CA1273419712CNGA3c.817G= (p.Val273=)
c.829G= (p.Val277=)
c.763G= (p.Val255=)
c.928G= (p.Val310=)
c.982G= (p.Val328=)
2g.98395987G>TCA347832206CNGA3c.817G>T (p.Val273Leu)
c.829G>T (p.Val277Leu)
c.763G>T (p.Val255Leu)
c.928G>T (p.Val310Leu)
c.982G>T (p.Val328Leu)
2g.98395988T>ACA347832209CNGA3c.818T>A (p.Val273Glu)
c.830T>A (p.Val277Glu)
c.764T>A (p.Val255Glu)
c.929T>A (p.Val310Glu)
c.983T>A (p.Val328Glu)
2g.98395988T>CCA347832211CNGA3c.818T>C (p.Val273Ala)
c.830T>C (p.Val277Ala)
c.764T>C (p.Val255Ala)
c.929T>C (p.Val310Ala)
c.983T>C (p.Val328Ala)
2g.98395988T>GCA347832210CNGA3c.818T>G (p.Val273Gly)
c.830T>G (p.Val277Gly)
c.764T>G (p.Val255Gly)
c.929T>G (p.Val310Gly)
c.983T>G (p.Val328Gly)
2g.98395989G>ACA427568561CNGA3c.819G>A (p.Val273=)
c.831G>A (p.Val277=)
c.765G>A (p.Val255=)
c.930G>A (p.Val310=)
c.984G>A (p.Val328=)
 dbSNP gnomAD v4 COSMIC
2g.98395989G>CCA427568563CNGA3c.819G>C (p.Val273=)
c.831G>C (p.Val277=)
c.765G>C (p.Val255=)
c.930G>C (p.Val310=)
c.984G>C (p.Val328=)
2g.98395989G=CA1273419713CNGA3c.819G= (p.Val273=)
c.831G= (p.Val277=)
c.765G= (p.Val255=)
c.930G= (p.Val310=)
c.984G= (p.Val328=)
2g.98395989G>TCA427568565CNGA3c.819G>T (p.Val273=)
c.831G>T (p.Val277=)
c.765G>T (p.Val255=)
c.930G>T (p.Val310=)
c.984G>T (p.Val328=)
2g.98395990A>CCA427568567CNGA3c.820A>C (p.Arg274=)
c.832A>C (p.Arg278=)
c.766A>C (p.Arg256=)
c.931A>C (p.Arg311=)
c.985A>C (p.Arg329=)
2g.98395990A>GCA347832212CNGA3c.820A>G (p.Arg274Gly)
c.832A>G (p.Arg278Gly)
c.766A>G (p.Arg256Gly)
c.931A>G (p.Arg311Gly)
c.985A>G (p.Arg329Gly)
2g.98395990A>TCA347832213CNGA3c.820A>T (p.Arg274Trp)
c.832A>T (p.Arg278Trp)
c.766A>T (p.Arg256Trp)
c.931A>T (p.Arg311Trp)
c.985A>T (p.Arg329Trp)
2g.98395991G>ACA347832214CNGA3c.821G>A (p.Arg274Lys)
c.833G>A (p.Arg278Lys)
c.767G>A (p.Arg256Lys)
c.932G>A (p.Arg311Lys)
c.986G>A (p.Arg329Lys)
2g.98395991G>CCA347832215CNGA3c.821G>C (p.Arg274Thr)
c.833G>C (p.Arg278Thr)
c.767G>C (p.Arg256Thr)
c.932G>C (p.Arg311Thr)
c.986G>C (p.Arg329Thr)
2g.98395991G>TCA347832216CNGA3c.821G>T (p.Arg274Met)
c.833G>T (p.Arg278Met)
c.767G>T (p.Arg256Met)
c.932G>T (p.Arg311Met)
c.986G>T (p.Arg329Met)
2g.98395992G>ACA1793902CNGA3c.822G>A (p.Arg274=)
c.834G>A (p.Arg278=)
c.768G>A (p.Arg256=)
c.933G>A (p.Arg311=)
c.987G>A (p.Arg329=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395992G>CCA347832217CNGA3c.822G>C (p.Arg274Ser)
c.834G>C (p.Arg278Ser)
c.768G>C (p.Arg256Ser)
c.933G>C (p.Arg311Ser)
c.987G>C (p.Arg329Ser)
2g.98395992G=CA1273419714CNGA3c.822G= (p.Arg274=)
c.834G= (p.Arg278=)
c.768G= (p.Arg256=)
c.933G= (p.Arg311=)
c.987G= (p.Arg329=)
2g.98395992G>TCA1793901CNGA3c.822G>T (p.Arg274Ser)
c.834G>T (p.Arg278Ser)
c.768G>T (p.Arg256Ser)
c.933G>T (p.Arg311Ser)
c.987G>T (p.Arg329Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395993T>ACA347832218CNGA3c.823T>A (p.Phe275Ile)
c.835T>A (p.Phe279Ile)
c.769T>A (p.Phe257Ile)
c.934T>A (p.Phe312Ile)
c.988T>A (p.Phe330Ile)
2g.98395993T>CCA347832219CNGA3c.823T>C (p.Phe275Leu)
c.835T>C (p.Phe279Leu)
c.769T>C (p.Phe257Leu)
c.934T>C (p.Phe312Leu)
c.988T>C (p.Phe330Leu)
2g.98395993T>GCA347832220CNGA3c.823T>G (p.Phe275Val)
c.835T>G (p.Phe279Val)
c.769T>G (p.Phe257Val)
c.934T>G (p.Phe312Val)
c.988T>G (p.Phe330Val)
2g.98395994T>ACA347832223CNGA3c.824T>A (p.Phe275Tyr)
c.836T>A (p.Phe279Tyr)
c.770T>A (p.Phe257Tyr)
c.935T>A (p.Phe312Tyr)
c.989T>A (p.Phe330Tyr)
2g.98395994T>CCA347832221CNGA3c.824T>C (p.Phe275Ser)
c.836T>C (p.Phe279Ser)
c.770T>C (p.Phe257Ser)
c.935T>C (p.Phe312Ser)
c.989T>C (p.Phe330Ser)
2g.98395994T>GCA347832222CNGA3c.824T>G (p.Phe275Cys)
c.836T>G (p.Phe279Cys)
c.770T>G (p.Phe257Cys)
c.935T>G (p.Phe312Cys)
c.989T>G (p.Phe330Cys)
2g.98395995C>ACA347832224CNGA3c.825C>A (p.Phe275Leu)
c.837C>A (p.Phe279Leu)
c.771C>A (p.Phe257Leu)
c.936C>A (p.Phe312Leu)
c.990C>A (p.Phe330Leu)
2g.98395995C=CA1273419715CNGA3c.825C= (p.Phe275=)
c.837C= (p.Phe279=)
c.771C= (p.Phe257=)
c.936C= (p.Phe312=)
c.990C= (p.Phe330=)
2g.98395995C>GCA1793903CNGA3c.825C>G (p.Phe275Leu)
c.837C>G (p.Phe279Leu)
c.771C>G (p.Phe257Leu)
c.936C>G (p.Phe312Leu)
c.990C>G (p.Phe330Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98395995C>TCA427568588CNGA3c.825C>T (p.Phe275=)
c.837C>T (p.Phe279=)
c.771C>T (p.Phe257=)
c.936C>T (p.Phe312=)
c.990C>T (p.Phe330=)
2g.98395996A>CCA347832225CNGA3c.826A>C (p.Asn276His)
c.838A>C (p.Asn280His)
c.772A>C (p.Asn258His)
c.937A>C (p.Asn313His)
c.991A>C (p.Asn331His)
2g.98395996A>GCA347832226CNGA3c.826A>G (p.Asn276Asp)
c.838A>G (p.Asn280Asp)
c.772A>G (p.Asn258Asp)
c.937A>G (p.Asn313Asp)
c.991A>G (p.Asn331Asp)
2g.98395996A>TCA347832227CNGA3c.826A>T (p.Asn276Tyr)
c.838A>T (p.Asn280Tyr)
c.772A>T (p.Asn258Tyr)
c.937A>T (p.Asn313Tyr)
c.991A>T (p.Asn331Tyr)
2g.98395997A=CA1273419716CNGA3c.827A= (p.Asn276=)
c.839A= (p.Asn280=)
c.773A= (p.Asn258=)
c.938A= (p.Asn313=)
c.992A= (p.Asn331=)
2g.98395997A>CCA347832228CNGA3c.827A>C (p.Asn276Thr)
c.839A>C (p.Asn280Thr)
c.773A>C (p.Asn258Thr)
c.938A>C (p.Asn313Thr)
c.992A>C (p.Asn331Thr)
2g.98395997A>GCA270749CNGA3c.827A>G (p.Asn276Ser)
c.839A>G (p.Asn280Ser)
c.773A>G (p.Asn258Ser)
c.938A>G (p.Asn313Ser)
c.992A>G (p.Asn331Ser)
 ClinVar dbSNP gnomAD v4
2g.98395997A>TCA347832229CNGA3c.827A>T (p.Asn276Ile)
c.839A>T (p.Asn280Ile)
c.773A>T (p.Asn258Ile)
c.938A>T (p.Asn313Ile)
c.992A>T (p.Asn331Ile)
2g.98395998C>ACA347832230CNGA3c.828C>A (p.Asn276Lys)
c.840C>A (p.Asn280Lys)
c.774C>A (p.Asn258Lys)
c.939C>A (p.Asn313Lys)
c.993C>A (p.Asn331Lys)
2g.98395998C=CA1273419717CNGA3c.828C= (p.Asn276=)
c.840C= (p.Asn280=)
c.774C= (p.Asn258=)
c.939C= (p.Asn313=)
c.993C= (p.Asn331=)
2g.98395998C>GCA347832231CNGA3c.828C>G (p.Asn276Lys)
c.840C>G (p.Asn280Lys)
c.774C>G (p.Asn258Lys)
c.939C>G (p.Asn313Lys)
c.993C>G (p.Asn331Lys)
2g.98395998C>TCA427568603CNGA3c.828C>T (p.Asn276=)
c.840C>T (p.Asn280=)
c.774C>T (p.Asn258=)
c.939C>T (p.Asn313=)
c.993C>T (p.Asn331=)
 dbSNP
2g.98395999C>ACA347832232CNGA3c.829C>A (p.Arg277Ser)
c.841C>A (p.Arg281Ser)
c.775C>A (p.Arg259Ser)
c.940C>A (p.Arg314Ser)
c.994C>A (p.Arg332Ser)
2g.98395999C=CA1273419718CNGA3c.829C= (p.Arg277=)
c.841C= (p.Arg281=)
c.775C= (p.Arg259=)
c.940C= (p.Arg314=)
c.994C= (p.Arg332=)
2g.98395999C>GCA347832233CNGA3c.829C>G (p.Arg277Gly)
c.841C>G (p.Arg281Gly)
c.775C>G (p.Arg259Gly)
c.940C>G (p.Arg314Gly)
c.994C>G (p.Arg332Gly)
2g.98395999C>TCA254827CNGA3c.829C>T (p.Arg277Cys)
c.841C>T (p.Arg281Cys)
c.775C>T (p.Arg259Cys)
c.940C>T (p.Arg314Cys)
c.994C>T (p.Arg332Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396000G>ACA52635286CNGA3c.830G>A (p.Arg277His)
c.842G>A (p.Arg281His)
c.776G>A (p.Arg259His)
c.941G>A (p.Arg314His)
c.995G>A (p.Arg332His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.98396000G>CCA347832234CNGA3c.830G>C (p.Arg277Pro)
c.842G>C (p.Arg281Pro)
c.776G>C (p.Arg259Pro)
c.941G>C (p.Arg314Pro)
c.995G>C (p.Arg332Pro)
2g.98396000G=CA1273419719CNGA3c.830G= (p.Arg277=)
c.842G= (p.Arg281=)
c.776G= (p.Arg259=)
c.941G= (p.Arg314=)
c.995G= (p.Arg332=)
2g.98396000G>TCA347832235CNGA3c.830G>T (p.Arg277Leu)
c.842G>T (p.Arg281Leu)
c.776G>T (p.Arg259Leu)
c.941G>T (p.Arg314Leu)
c.995G>T (p.Arg332Leu)
2g.98396001C>ACA427568612CNGA3c.831C>A (p.Arg277=)
c.843C>A (p.Arg281=)
c.777C>A (p.Arg259=)
c.942C>A (p.Arg314=)
c.996C>A (p.Arg332=)
2g.98396001C>GCA427568614CNGA3c.831C>G (p.Arg277=)
c.843C>G (p.Arg281=)
c.777C>G (p.Arg259=)
c.942C>G (p.Arg314=)
c.996C>G (p.Arg332=)
2g.98396001C>TCA427568615CNGA3c.831C>T (p.Arg277=)
c.843C>T (p.Arg281=)
c.777C>T (p.Arg259=)
c.942C>T (p.Arg314=)
c.996C>T (p.Arg332=)
 gnomAD v4
2g.98396002C>ACA347832236CNGA3c.832C>A (p.Leu278Ile)
c.844C>A (p.Leu282Ile)
c.778C>A (p.Leu260Ile)
c.943C>A (p.Leu315Ile)
c.997C>A (p.Leu333Ile)
2g.98396002C>GCA347832237CNGA3c.832C>G (p.Leu278Val)
c.844C>G (p.Leu282Val)
c.778C>G (p.Leu260Val)
c.943C>G (p.Leu315Val)
c.997C>G (p.Leu333Val)
2g.98396002C>TCA427568618CNGA3c.832C>T (p.Leu278=)
c.844C>T (p.Leu282=)
c.778C>T (p.Leu260=)
c.943C>T (p.Leu315=)
c.997C>T (p.Leu333=)
2g.98396003T>ACA347832238CNGA3c.833T>A (p.Leu278Gln)
c.845T>A (p.Leu282Gln)
c.779T>A (p.Leu260Gln)
c.944T>A (p.Leu315Gln)
c.998T>A (p.Leu333Gln)
2g.98396003T>CCA1793904CNGA3c.833T>C (p.Leu278Pro)
c.845T>C (p.Leu282Pro)
c.779T>C (p.Leu260Pro)
c.944T>C (p.Leu315Pro)
c.998T>C (p.Leu333Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396003T>GCA347832239CNGA3c.833T>G (p.Leu278Arg)
c.845T>G (p.Leu282Arg)
c.779T>G (p.Leu260Arg)
c.944T>G (p.Leu315Arg)
c.998T>G (p.Leu333Arg)
2g.98396003T=CA1273419720CNGA3c.833T= (p.Leu278=)
c.845T= (p.Leu282=)
c.779T= (p.Leu260=)
c.944T= (p.Leu315=)
c.998T= (p.Leu333=)
2g.98396004A=CA1273419721CNGA3c.834A= (p.Leu278=)
c.846A= (p.Leu282=)
c.780A= (p.Leu260=)
c.945A= (p.Leu315=)
c.999A= (p.Leu333=)
2g.98396004A>CCA1793905CNGA3c.834A>C (p.Leu278=)
c.846A>C (p.Leu282=)
c.780A>C (p.Leu260=)
c.945A>C (p.Leu315=)
c.999A>C (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396004A>GCA1793906CNGA3c.834A>G (p.Leu278=)
c.846A>G (p.Leu282=)
c.780A>G (p.Leu260=)
c.945A>G (p.Leu315=)
c.999A>G (p.Leu333=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396004A>TCA427568623CNGA3c.834A>T (p.Leu278=)
c.846A>T (p.Leu282=)
c.780A>T (p.Leu260=)
c.945A>T (p.Leu315=)
c.999A>T (p.Leu333=)
2g.98396005C>ACA347832240CNGA3c.835C>A (p.Leu279Met)
c.847C>A (p.Leu283Met)
c.781C>A (p.Leu261Met)
c.946C>A (p.Leu316Met)
c.1000C>A (p.Leu334Met)
2g.98396005C>GCA347832241CNGA3c.835C>G (p.Leu279Val)
c.847C>G (p.Leu283Val)
c.781C>G (p.Leu261Val)
c.946C>G (p.Leu316Val)
c.1000C>G (p.Leu334Val)
2g.98396005C>TCA427568636CNGA3c.835C>T (p.Leu279=)
c.847C>T (p.Leu283=)
c.781C>T (p.Leu261=)
c.946C>T (p.Leu316=)
c.1000C>T (p.Leu334=)
 ClinVar gnomAD v4
2g.98396006T>ACA347832243CNGA3c.836T>A (p.Leu279Gln)
c.848T>A (p.Leu283Gln)
c.782T>A (p.Leu261Gln)
c.947T>A (p.Leu316Gln)
c.1001T>A (p.Leu334Gln)
2g.98396006T>CCA347832244CNGA3c.836T>C (p.Leu279Pro)
c.848T>C (p.Leu283Pro)
c.782T>C (p.Leu261Pro)
c.947T>C (p.Leu316Pro)
c.1001T>C (p.Leu334Pro)
2g.98396006T>GCA347832242CNGA3c.836T>G (p.Leu279Arg)
c.848T>G (p.Leu283Arg)
c.782T>G (p.Leu261Arg)
c.947T>G (p.Leu316Arg)
c.1001T>G (p.Leu334Arg)
2g.98396007G>ACA427568640CNGA3c.837G>A (p.Leu279=)
c.849G>A (p.Leu283=)
c.783G>A (p.Leu261=)
c.948G>A (p.Leu316=)
c.1002G>A (p.Leu334=)
2g.98396007G>CCA427568637CNGA3c.837G>C (p.Leu279=)
c.849G>C (p.Leu283=)
c.783G>C (p.Leu261=)
c.948G>C (p.Leu316=)
c.1002G>C (p.Leu334=)
2g.98396007G>TCA427568638CNGA3c.837G>T (p.Leu279=)
c.849G>T (p.Leu283=)
c.783G>T (p.Leu261=)
c.948G>T (p.Leu316=)
c.1002G>T (p.Leu334=)
2g.98396008A>CCA347832245CNGA3c.838A>C (p.Lys280Gln)
c.850A>C (p.Lys284Gln)
c.784A>C (p.Lys262Gln)
c.949A>C (p.Lys317Gln)
c.1003A>C (p.Lys335Gln)
2g.98396008A>GCA347832246CNGA3c.838A>G (p.Lys280Glu)
c.850A>G (p.Lys284Glu)
c.784A>G (p.Lys262Glu)
c.949A>G (p.Lys317Glu)
c.1003A>G (p.Lys335Glu)
2g.98396008A>TCA347832247CNGA3c.838A>T (p.Lys280Ter)
c.850A>T (p.Lys284Ter)
c.784A>T (p.Lys262Ter)
c.949A>T (p.Lys317Ter)
c.1003A>T (p.Lys335Ter)
2g.98396009A>CCA347832248CNGA3c.839A>C (p.Lys280Thr)
c.851A>C (p.Lys284Thr)
c.785A>C (p.Lys262Thr)
c.950A>C (p.Lys317Thr)
c.1004A>C (p.Lys335Thr)
2g.98396009A>GCA347832249CNGA3c.839A>G (p.Lys280Arg)
c.851A>G (p.Lys284Arg)
c.785A>G (p.Lys262Arg)
c.950A>G (p.Lys317Arg)
c.1004A>G (p.Lys335Arg)
2g.98396009A>TCA347832250CNGA3c.839A>T (p.Lys280Met)
c.851A>T (p.Lys284Met)
c.785A>T (p.Lys262Met)
c.950A>T (p.Lys317Met)
c.1004A>T (p.Lys335Met)
2g.98396010G>ACA427568648CNGA3c.840G>A (p.Lys280=)
c.852G>A (p.Lys284=)
c.786G>A (p.Lys262=)
c.951G>A (p.Lys317=)
c.1005G>A (p.Lys335=)
2g.98396010G>CCA347832251CNGA3c.840G>C (p.Lys280Asn)
c.852G>C (p.Lys284Asn)
c.786G>C (p.Lys262Asn)
c.951G>C (p.Lys317Asn)
c.1005G>C (p.Lys335Asn)
2g.98396010G>TCA347832252CNGA3c.840G>T (p.Lys280Asn)
c.852G>T (p.Lys284Asn)
c.786G>T (p.Lys262Asn)
c.951G>T (p.Lys317Asn)
c.1005G>T (p.Lys335Asn)
2g.98396011T>ACA347832253CNGA3c.841T>A (p.Phe281Ile)
c.853T>A (p.Phe285Ile)
c.787T>A (p.Phe263Ile)
c.952T>A (p.Phe318Ile)
c.1006T>A (p.Phe336Ile)
2g.98396011T>CCA347832254CNGA3c.841T>C (p.Phe281Leu)
c.853T>C (p.Phe285Leu)
c.787T>C (p.Phe263Leu)
c.952T>C (p.Phe318Leu)
c.1006T>C (p.Phe336Leu)
 gnomAD v4
2g.98396011T>GCA347832255CNGA3c.841T>G (p.Phe281Val)
c.853T>G (p.Phe285Val)
c.787T>G (p.Phe263Val)
c.952T>G (p.Phe318Val)
c.1006T>G (p.Phe336Val)
2g.98396012T>ACA347832256CNGA3c.842T>A (p.Phe281Tyr)
c.854T>A (p.Phe285Tyr)
c.788T>A (p.Phe263Tyr)
c.953T>A (p.Phe318Tyr)
c.1007T>A (p.Phe336Tyr)
2g.98396012T>CCA347832257CNGA3c.842T>C (p.Phe281Ser)
c.854T>C (p.Phe285Ser)
c.788T>C (p.Phe263Ser)
c.953T>C (p.Phe318Ser)
c.1007T>C (p.Phe336Ser)
 ClinVar dbSNP
2g.98396012T>GCA347832258CNGA3c.842T>G (p.Phe281Cys)
c.854T>G (p.Phe285Cys)
c.788T>G (p.Phe263Cys)
c.953T>G (p.Phe318Cys)
c.1007T>G (p.Phe336Cys)
2g.98396013T>ACA347832259CNGA3c.843T>A (p.Phe281Leu)
c.855T>A (p.Phe285Leu)
c.789T>A (p.Phe263Leu)
c.954T>A (p.Phe318Leu)
c.1008T>A (p.Phe336Leu)
2g.98396013T>CCA427568662CNGA3c.843T>C (p.Phe281=)
c.855T>C (p.Phe285=)
c.789T>C (p.Phe263=)
c.954T>C (p.Phe318=)
c.1008T>C (p.Phe336=)
2g.98396013T>GCA347832260CNGA3c.843T>G (p.Phe281Leu)
c.855T>G (p.Phe285Leu)
c.789T>G (p.Phe263Leu)
c.954T>G (p.Phe318Leu)
c.1008T>G (p.Phe336Leu)
2g.98396014T>ACA347832261CNGA3c.844T>A (p.Ser282Thr)
c.856T>A (p.Ser286Thr)
c.790T>A (p.Ser264Thr)
c.955T>A (p.Ser319Thr)
c.1009T>A (p.Ser337Thr)
2g.98396014T>CCA1793907CNGA3c.844T>C (p.Ser282Pro)
c.856T>C (p.Ser286Pro)
c.790T>C (p.Ser264Pro)
c.955T>C (p.Ser319Pro)
c.1009T>C (p.Ser337Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396014T>GCA347832262CNGA3c.844T>G (p.Ser282Ala)
c.856T>G (p.Ser286Ala)
c.790T>G (p.Ser264Ala)
c.955T>G (p.Ser319Ala)
c.1009T>G (p.Ser337Ala)
2g.98396014T=CA1273419722CNGA3c.844T= (p.Ser282=)
c.856T= (p.Ser286=)
c.790T= (p.Ser264=)
c.955T= (p.Ser319=)
c.1009T= (p.Ser337=)
2g.98396015C>ACA347832263CNGA3c.845C>A (p.Ser282Tyr)
c.857C>A (p.Ser286Tyr)
c.791C>A (p.Ser264Tyr)
c.956C>A (p.Ser319Tyr)
c.1010C>A (p.Ser337Tyr)
2g.98396015C>GCA347832265CNGA3c.845C>G (p.Ser282Cys)
c.857C>G (p.Ser286Cys)
c.791C>G (p.Ser264Cys)
c.956C>G (p.Ser319Cys)
c.1010C>G (p.Ser337Cys)
2g.98396015C>TCA347832264CNGA3c.845C>T (p.Ser282Phe)
c.857C>T (p.Ser286Phe)
c.791C>T (p.Ser264Phe)
c.956C>T (p.Ser319Phe)
c.1010C>T (p.Ser337Phe)
 gnomAD v4 COSMIC
2g.98396016C>ACA427568667CNGA3c.846C>A (p.Ser282=)
c.858C>A (p.Ser286=)
c.792C>A (p.Ser264=)
c.957C>A (p.Ser319=)
c.1011C>A (p.Ser337=)
 gnomAD v4
2g.98396016C=CA1273419723CNGA3c.846C= (p.Ser282=)
c.858C= (p.Ser286=)
c.792C= (p.Ser264=)
c.957C= (p.Ser319=)
c.1011C= (p.Ser337=)
2g.98396016C>GCA427568668CNGA3c.846C>G (p.Ser282=)
c.858C>G (p.Ser286=)
c.792C>G (p.Ser264=)
c.957C>G (p.Ser319=)
c.1011C>G (p.Ser337=)
2g.98396016C>TCA1793908CNGA3c.846C>T (p.Ser282=)
c.858C>T (p.Ser286=)
c.792C>T (p.Ser264=)
c.957C>T (p.Ser319=)
c.1011C>T (p.Ser337=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396017C>ACA427568674CNGA3c.847C>A (p.Arg283=)
c.859C>A (p.Arg287=)
c.793C>A (p.Arg265=)
c.958C>A (p.Arg320=)
c.1012C>A (p.Arg338=)
 COSMIC
2g.98396017C=CA1273419724CNGA3c.847C= (p.Arg283=)
c.859C= (p.Arg287=)
c.793C= (p.Arg265=)
c.958C= (p.Arg320=)
c.1012C= (p.Arg338=)
2g.98396017C>GCA347832266CNGA3c.847C>G (p.Arg283Gly)
c.859C>G (p.Arg287Gly)
c.793C>G (p.Arg265Gly)
c.958C>G (p.Arg320Gly)
c.1012C>G (p.Arg338Gly)
2g.98396017C>TCA254820CNGA3c.847C>T (p.Arg283Trp)
c.859C>T (p.Arg287Trp)
c.793C>T (p.Arg265Trp)
c.958C>T (p.Arg320Trp)
c.1012C>T (p.Arg338Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396018G>ACA254821CNGA3c.848G>A (p.Arg283Gln)
c.860G>A (p.Arg287Gln)
c.794G>A (p.Arg265Gln)
c.959G>A (p.Arg320Gln)
c.1013G>A (p.Arg338Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396018G>CCA347832267CNGA3c.848G>C (p.Arg283Pro)
c.860G>C (p.Arg287Pro)
c.794G>C (p.Arg265Pro)
c.959G>C (p.Arg320Pro)
c.1013G>C (p.Arg338Pro)
 ClinVar
2g.98396018G=CA1273419725CNGA3c.848G= (p.Arg283=)
c.860G= (p.Arg287=)
c.794G= (p.Arg265=)
c.959G= (p.Arg320=)
c.1013G= (p.Arg338=)
2g.98396018G>TCA347832268CNGA3c.848G>T (p.Arg283Leu)
c.860G>T (p.Arg287Leu)
c.794G>T (p.Arg265Leu)
c.959G>T (p.Arg320Leu)
c.1013G>T (p.Arg338Leu)
 COSMIC
2g.98396019G>ACA1793909CNGA3c.849G>A (p.Arg283=)
c.861G>A (p.Arg287=)
c.795G>A (p.Arg265=)
c.960G>A (p.Arg320=)
c.1014G>A (p.Arg338=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396019G>CCA427568681CNGA3c.849G>C (p.Arg283=)
c.861G>C (p.Arg287=)
c.795G>C (p.Arg265=)
c.960G>C (p.Arg320=)
c.1014G>C (p.Arg338=)
2g.98396019G=CA1273419726CNGA3c.849G= (p.Arg283=)
c.861G= (p.Arg287=)
c.795G= (p.Arg265=)
c.960G= (p.Arg320=)
c.1014G= (p.Arg338=)
2g.98396019G>TCA427568683CNGA3c.849G>T (p.Arg283=)
c.861G>T (p.Arg287=)
c.795G>T (p.Arg265=)
c.960G>T (p.Arg320=)
c.1014G>T (p.Arg338=)
2g.98396020C>ACA347832269CNGA3c.850C>A (p.Leu284Ile)
c.862C>A (p.Leu288Ile)
c.796C>A (p.Leu266Ile)
c.961C>A (p.Leu321Ile)
c.1015C>A (p.Leu339Ile)
 gnomAD v4
2g.98396020C>GCA347832270CNGA3c.850C>G (p.Leu284Val)
c.862C>G (p.Leu288Val)
c.796C>G (p.Leu266Val)
c.961C>G (p.Leu321Val)
c.1015C>G (p.Leu339Val)
 COSMIC
2g.98396020C>TCA347832271CNGA3c.850C>T (p.Leu284Phe)
c.862C>T (p.Leu288Phe)
c.796C>T (p.Leu266Phe)
c.961C>T (p.Leu321Phe)
c.1015C>T (p.Leu339Phe)
 gnomAD v4
2g.98396020_98396021delinsCTCA1273419727CNGA3c.850_851delinsCT (p.Leu284=)
c.862_863delinsCT (p.Leu288=)
c.796_797delinsCT (p.Leu266=)
c.961_962delinsCT (p.Leu321=)
c.1015_1016delinsCT (p.Leu339=)
2g.98396021delCA895882484CNGA3c.851del (p.Leu284ProfsTer?)
c.863del (p.Leu288ProfsTer?)
c.797del (p.Leu266ProfsTer?)
c.962del (p.Leu321ProfsTer?)
c.1016del (p.Leu339ProfsTer?)
 ClinVar dbSNP gnomAD v4
2g.98396021T>ACA347832272CNGA3c.851T>A (p.Leu284His)
c.863T>A (p.Leu288His)
c.797T>A (p.Leu266His)
c.962T>A (p.Leu321His)
c.1016T>A (p.Leu339His)
2g.98396021T>CCA347832273CNGA3c.851T>C (p.Leu284Pro)
c.863T>C (p.Leu288Pro)
c.797T>C (p.Leu266Pro)
c.962T>C (p.Leu321Pro)
c.1016T>C (p.Leu339Pro)
2g.98396021T>GCA347832274CNGA3c.851T>G (p.Leu284Arg)
c.863T>G (p.Leu288Arg)
c.797T>G (p.Leu266Arg)
c.962T>G (p.Leu321Arg)
c.1016T>G (p.Leu339Arg)
2g.98396022C>ACA427568691CNGA3c.852C>A (p.Leu284=)
c.864C>A (p.Leu288=)
c.798C>A (p.Leu266=)
c.963C>A (p.Leu321=)
c.1017C>A (p.Leu339=)
2g.98396022C=CA1273419728CNGA3c.852C= (p.Leu284=)
c.864C= (p.Leu288=)
c.798C= (p.Leu266=)
c.963C= (p.Leu321=)
c.1017C= (p.Leu339=)
2g.98396022C>GCA427568692CNGA3c.852C>G (p.Leu284=)
c.864C>G (p.Leu288=)
c.798C>G (p.Leu266=)
c.963C>G (p.Leu321=)
c.1017C>G (p.Leu339=)
2g.98396022C>TCA1793910CNGA3c.852C>T (p.Leu284=)
c.864C>T (p.Leu288=)
c.798C>T (p.Leu266=)
c.963C>T (p.Leu321=)
c.1017C>T (p.Leu339=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396023T>ACA347832275CNGA3c.853T>A (p.Phe285Ile)
c.865T>A (p.Phe289Ile)
c.799T>A (p.Phe267Ile)
c.964T>A (p.Phe322Ile)
c.1018T>A (p.Phe340Ile)
2g.98396023T>CCA347832276CNGA3c.853T>C (p.Phe285Leu)
c.865T>C (p.Phe289Leu)
c.799T>C (p.Phe267Leu)
c.964T>C (p.Phe322Leu)
c.1018T>C (p.Phe340Leu)
2g.98396023T>GCA347832277CNGA3c.853T>G (p.Phe285Val)
c.865T>G (p.Phe289Val)
c.799T>G (p.Phe267Val)
c.964T>G (p.Phe322Val)
c.1018T>G (p.Phe340Val)
2g.98396024T>ACA347832278CNGA3c.854T>A (p.Phe285Tyr)
c.866T>A (p.Phe289Tyr)
c.800T>A (p.Phe267Tyr)
c.965T>A (p.Phe322Tyr)
c.1019T>A (p.Phe340Tyr)
2g.98396024T>CCA347832279CNGA3c.854T>C (p.Phe285Ser)
c.866T>C (p.Phe289Ser)
c.800T>C (p.Phe267Ser)
c.965T>C (p.Phe322Ser)
c.1019T>C (p.Phe340Ser)
2g.98396024T>GCA347832280CNGA3c.854T>G (p.Phe285Cys)
c.866T>G (p.Phe289Cys)
c.800T>G (p.Phe267Cys)
c.965T>G (p.Phe322Cys)
c.1019T>G (p.Phe340Cys)
2g.98396025T>ACA347832281CNGA3c.855T>A (p.Phe285Leu)
c.867T>A (p.Phe289Leu)
c.801T>A (p.Phe267Leu)
c.966T>A (p.Phe322Leu)
c.1020T>A (p.Phe340Leu)
2g.98396025T>CCA427568707CNGA3c.855T>C (p.Phe285=)
c.867T>C (p.Phe289=)
c.801T>C (p.Phe267=)
c.966T>C (p.Phe322=)
c.1020T>C (p.Phe340=)
 gnomAD v4
2g.98396025T>GCA347832282CNGA3c.855T>G (p.Phe285Leu)
c.867T>G (p.Phe289Leu)
c.801T>G (p.Phe267Leu)
c.966T>G (p.Phe322Leu)
c.1020T>G (p.Phe340Leu)
2g.98396026G>ACA347832283CNGA3c.856G>A (p.Glu286Lys)
c.868G>A (p.Glu290Lys)
c.802G>A (p.Glu268Lys)
c.967G>A (p.Glu323Lys)
c.1021G>A (p.Glu341Lys)
 COSMIC
2g.98396026G>CCA347832284CNGA3c.856G>C (p.Glu286Gln)
c.868G>C (p.Glu290Gln)
c.802G>C (p.Glu268Gln)
c.967G>C (p.Glu323Gln)
c.1021G>C (p.Glu341Gln)
2g.98396026G>TCA347832285CNGA3c.856G>T (p.Glu286Ter)
c.868G>T (p.Glu290Ter)
c.802G>T (p.Glu268Ter)
c.967G>T (p.Glu323Ter)
c.1021G>T (p.Glu341Ter)
2g.98396027A>CCA347832288CNGA3c.857A>C (p.Glu286Ala)
c.869A>C (p.Glu290Ala)
c.803A>C (p.Glu268Ala)
c.968A>C (p.Glu323Ala)
c.1022A>C (p.Glu341Ala)
2g.98396027A>GCA347832287CNGA3c.857A>G (p.Glu286Gly)
c.869A>G (p.Glu290Gly)
c.803A>G (p.Glu268Gly)
c.968A>G (p.Glu323Gly)
c.1022A>G (p.Glu341Gly)
2g.98396027A>TCA347832286CNGA3c.857A>T (p.Glu286Val)
c.869A>T (p.Glu290Val)
c.803A>T (p.Glu268Val)
c.968A>T (p.Glu323Val)
c.1022A>T (p.Glu341Val)
2g.98396028A>CCA347832289CNGA3c.858A>C (p.Glu286Asp)
c.870A>C (p.Glu290Asp)
c.804A>C (p.Glu268Asp)
c.969A>C (p.Glu323Asp)
c.1023A>C (p.Glu341Asp)
2g.98396028A>GCA427568723CNGA3c.858A>G (p.Glu286=)
c.870A>G (p.Glu290=)
c.804A>G (p.Glu268=)
c.969A>G (p.Glu323=)
c.1023A>G (p.Glu341=)
2g.98396028A>TCA347832290CNGA3c.858A>T (p.Glu286Asp)
c.870A>T (p.Glu290Asp)
c.804A>T (p.Glu268Asp)
c.969A>T (p.Glu323Asp)
c.1023A>T (p.Glu341Asp)
2g.98396029T>ACA347832291CNGA3c.859T>A (p.Phe287Ile)
c.871T>A (p.Phe291Ile)
c.805T>A (p.Phe269Ile)
c.970T>A (p.Phe324Ile)
c.1024T>A (p.Phe342Ile)
 gnomAD v4
2g.98396029T>CCA347832292CNGA3c.859T>C (p.Phe287Leu)
c.871T>C (p.Phe291Leu)
c.805T>C (p.Phe269Leu)
c.970T>C (p.Phe324Leu)
c.1024T>C (p.Phe342Leu)
2g.98396029T>GCA347832293CNGA3c.859T>G (p.Phe287Val)
c.871T>G (p.Phe291Val)
c.805T>G (p.Phe269Val)
c.970T>G (p.Phe324Val)
c.1024T>G (p.Phe342Val)
2g.98396030T>ACA1793911CNGA3c.860T>A (p.Phe287Tyr)
c.872T>A (p.Phe291Tyr)
c.806T>A (p.Phe269Tyr)
c.971T>A (p.Phe324Tyr)
c.1025T>A (p.Phe342Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.98396030T>CCA347832295CNGA3c.860T>C (p.Phe287Ser)
c.872T>C (p.Phe291Ser)
c.806T>C (p.Phe269Ser)
c.971T>C (p.Phe324Ser)
c.1025T>C (p.Phe342Ser)
2g.98396030T>GCA347832294CNGA3c.860T>G (p.Phe287Cys)
c.872T>G (p.Phe291Cys)
c.806T>G (p.Phe269Cys)
c.971T>G (p.Phe324Cys)
c.1025T>G (p.Phe342Cys)
 gnomAD v4
2g.98396030T=CA1273419729CNGA3c.860T= (p.Phe287=)
c.872T= (p.Phe291=)
c.806T= (p.Phe269=)
c.971T= (p.Phe324=)
c.1025T= (p.Phe342=)
2g.98396031C>ACA347832296CNGA3c.861C>A (p.Phe287Leu)
c.873C>A (p.Phe291Leu)
c.807C>A (p.Phe269Leu)
c.972C>A (p.Phe324Leu)
c.1026C>A (p.Phe342Leu)
 gnomAD v4 COSMIC
2g.98396031C=CA1273419730CNGA3c.861C= (p.Phe287=)
c.873C= (p.Phe291=)
c.807C= (p.Phe269=)
c.972C= (p.Phe324=)
c.1026C= (p.Phe342=)
2g.98396031C>GCA347832297CNGA3c.861C>G (p.Phe287Leu)
c.873C>G (p.Phe291Leu)
c.807C>G (p.Phe269Leu)
c.972C>G (p.Phe324Leu)
c.1026C>G (p.Phe342Leu)
2g.98396031C>TCA52635310CNGA3c.861C>T (p.Phe287=)
c.873C>T (p.Phe291=)
c.807C>T (p.Phe269=)
c.972C>T (p.Phe324=)
c.1026C>T (p.Phe342=)
 dbSNP gnomAD v3 gnomAD v4
2g.98396032_98396037delCA2751373868CNGA3c.862_867del (p.Phe288_Asp289del)
c.874_879del (p.Phe292_Asp293del)
c.808_813del (p.Phe270_Asp271del)
c.973_978del (p.Phe325_Asp326del)
c.1027_1032del (p.Phe343_Asp344del)
2g.98396032T>ACA347832298CNGA3c.862T>A (p.Phe288Ile)
c.874T>A (p.Phe292Ile)
c.808T>A (p.Phe270Ile)
c.973T>A (p.Phe325Ile)
c.1027T>A (p.Phe343Ile)
2g.98396032T>CCA347832299CNGA3c.862T>C (p.Phe288Leu)
c.874T>C (p.Phe292Leu)
c.808T>C (p.Phe270Leu)
c.973T>C (p.Phe325Leu)
c.1027T>C (p.Phe343Leu)
2g.98396032T>GCA347832300CNGA3c.862T>G (p.Phe288Val)
c.874T>G (p.Phe292Val)
c.808T>G (p.Phe270Val)
c.973T>G (p.Phe325Val)
c.1027T>G (p.Phe343Val)
 gnomAD v4
2g.98396033T>ACA347832301CNGA3c.863T>A (p.Phe288Tyr)
c.875T>A (p.Phe292Tyr)
c.809T>A (p.Phe270Tyr)
c.974T>A (p.Phe325Tyr)
c.1028T>A (p.Phe343Tyr)
2g.98396033T>CCA347832303CNGA3c.863T>C (p.Phe288Ser)
c.875T>C (p.Phe292Ser)
c.809T>C (p.Phe270Ser)
c.974T>C (p.Phe325Ser)
c.1028T>C (p.Phe343Ser)
2g.98396033T>GCA347832302CNGA3c.863T>G (p.Phe288Cys)
c.875T>G (p.Phe292Cys)
c.809T>G (p.Phe270Cys)
c.974T>G (p.Phe325Cys)
c.1028T>G (p.Phe343Cys)
2g.98396034T>ACA347832304CNGA3c.864T>A (p.Phe288Leu)
c.876T>A (p.Phe292Leu)
c.810T>A (p.Phe270Leu)
c.975T>A (p.Phe325Leu)
c.1029T>A (p.Phe343Leu)
2g.98396034T>CCA427568747CNGA3c.864T>C (p.Phe288=)
c.876T>C (p.Phe292=)
c.810T>C (p.Phe270=)
c.975T>C (p.Phe325=)
c.1029T>C (p.Phe343=)
2g.98396034T>GCA347832305CNGA3c.864T>G (p.Phe288Leu)
c.876T>G (p.Phe292Leu)
c.810T>G (p.Phe270Leu)
c.975T>G (p.Phe325Leu)
c.1029T>G (p.Phe343Leu)
 gnomAD v4
2g.98396035G>ACA347832306CNGA3c.865G>A (p.Asp289Asn)
c.877G>A (p.Asp293Asn)
c.811G>A (p.Asp271Asn)
c.976G>A (p.Asp326Asn)
c.1030G>A (p.Asp344Asn)
 gnomAD v4
2g.98396035G>CCA347832307CNGA3c.865G>C (p.Asp289His)
c.877G>C (p.Asp293His)
c.811G>C (p.Asp271His)
c.976G>C (p.Asp326His)
c.1030G>C (p.Asp344His)
2g.98396035G>TCA347832308CNGA3c.865G>T (p.Asp289Tyr)
c.877G>T (p.Asp293Tyr)
c.811G>T (p.Asp271Tyr)
c.976G>T (p.Asp326Tyr)
c.1030G>T (p.Asp344Tyr)
2g.98396036A>CCA347832309CNGA3c.866A>C (p.Asp289Ala)
c.878A>C (p.Asp293Ala)
c.812A>C (p.Asp271Ala)
c.977A>C (p.Asp326Ala)
c.1031A>C (p.Asp344Ala)
2g.98396036A>GCA347832310CNGA3c.866A>G (p.Asp289Gly)
c.878A>G (p.Asp293Gly)
c.812A>G (p.Asp271Gly)
c.977A>G (p.Asp326Gly)
c.1031A>G (p.Asp344Gly)
2g.98396036A>TCA347832311CNGA3c.866A>T (p.Asp289Val)
c.878A>T (p.Asp293Val)
c.812A>T (p.Asp271Val)
c.977A>T (p.Asp326Val)
c.1031A>T (p.Asp344Val)
2g.98396037C>ACA347832312CNGA3c.867C>A (p.Asp289Glu)
c.879C>A (p.Asp293Glu)
c.813C>A (p.Asp271Glu)
c.978C>A (p.Asp326Glu)
c.1032C>A (p.Asp344Glu)
2g.98396037C>GCA347832313CNGA3c.867C>G (p.Asp289Glu)
c.879C>G (p.Asp293Glu)
c.813C>G (p.Asp271Glu)
c.978C>G (p.Asp326Glu)
c.1032C>G (p.Asp344Glu)
2g.98396037C>TCA427819497CNGA3c.867C>T (p.Asp289=)
c.879C>T (p.Asp293=)
c.813C>T (p.Asp271=)
c.978C>T (p.Asp326=)
c.1032C>T (p.Asp344=)
2g.98396038C>ACA347832315CNGA3c.868C>A (p.Arg290Ser)
c.880C>A (p.Arg294Ser)
c.814C>A (p.Arg272Ser)
c.979C>A (p.Arg327Ser)
c.1033C>A (p.Arg345Ser)
 gnomAD v4
2g.98396038C=CA1273419731CNGA3c.868C= (p.Arg290=)
c.880C= (p.Arg294=)
c.814C= (p.Arg272=)
c.979C= (p.Arg327=)
c.1033C= (p.Arg345=)
2g.98396038C>GCA347832314CNGA3c.868C>G (p.Arg290Gly)
c.880C>G (p.Arg294Gly)
c.814C>G (p.Arg272Gly)
c.979C>G (p.Arg327Gly)
c.1033C>G (p.Arg345Gly)
2g.98396038C>TCA247587CNGA3c.868C>T (p.Arg290Cys)
c.880C>T (p.Arg294Cys)
c.814C>T (p.Arg272Cys)
c.979C>T (p.Arg327Cys)
c.1033C>T (p.Arg345Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.98396039G>ACA1793912CNGA3c.869G>A (p.Arg290His)
c.881G>A (p.Arg294His)
c.815G>A (p.Arg272His)
c.980G>A (p.Arg327His)
c.1034G>A (p.Arg345His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.98396039G>CCA347832317CNGA3c.869G>C (p.Arg290Pro)
c.881G>C (p.Arg294Pro)
c.815G>C (p.Arg272Pro)
c.980G>C (p.Arg327Pro)
c.1034G>C (p.Arg345Pro)
 dbSNP
2g.98396039G=CA1273419732CNGA3c.869G= (p.Arg290=)
c.881G= (p.Arg294=)
c.815G= (p.Arg272=)
c.980G= (p.Arg327=)
c.1034G= (p.Arg345=)
2g.98396039G>TCA347832316CNGA3c.869G>T (p.Arg290Leu)
c.881G>T (p.Arg294Leu)
c.815G>T (p.Arg272Leu)
c.980G>T (p.Arg327Leu)
c.1034G>T (p.Arg345Leu)
 gnomAD v4

Number of alleles fetched