Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348822_20348823delinsTCCA2211942831UMODc.478_479delinsGA (p.Asp160=)
c.577_578delinsGA (p.Asp193=)
c.625_626delinsGA (p.Asp209=)
c.562_563delinsGA (p.Asp188=)
n.703_704delinsGA
16g.20348823C>ACA394985809UMODc.478G>T (p.Asp160Tyr)
c.577G>T (p.Asp193Tyr)
c.625G>T (p.Asp209Tyr)
c.562G>T (p.Asp188Tyr)
n.703G>T
16g.20348823C>GCA394985811UMODc.478G>C (p.Asp160His)
c.577G>C (p.Asp193His)
c.625G>C (p.Asp209His)
c.562G>C (p.Asp188His)
n.703G>C
16g.20348823C>TCA394985813UMODc.478G>A (p.Asp160Asn)
c.577G>A (p.Asp193Asn)
c.625G>A (p.Asp209Asn)
c.562G>A (p.Asp188Asn)
n.703G>A
16g.20348824delCA621658532UMODc.478del (p.Asp160ThrfsTer?)
c.577del (p.Asp193ThrfsTer?)
c.625del (p.Asp209ThrfsTer?)
c.562del (p.Asp188ThrfsTer?)
n.703del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348824C>ACA394985815UMODc.477G>T (p.Leu159Phe)
c.576G>T (p.Leu192Phe)
c.624G>T (p.Leu208Phe)
c.561G>T (p.Leu187Phe)
n.702G>T
16g.20348824C>GCA394985817UMODc.477G>C (p.Leu159Phe)
c.576G>C (p.Leu192Phe)
c.624G>C (p.Leu208Phe)
c.561G>C (p.Leu187Phe)
n.702G>C
16g.20348824C>TCA494097163UMODc.477G>A (p.Leu159=)
c.576G>A (p.Leu192=)
c.624G>A (p.Leu208=)
c.561G>A (p.Leu187=)
n.702G>A
16g.20348825A>CCA394985820UMODc.476T>G (p.Leu159Trp)
c.575T>G (p.Leu192Trp)
c.623T>G (p.Leu208Trp)
c.560T>G (p.Leu187Trp)
n.701T>G
 gnomAD v4
16g.20348825A>GCA394985822UMODc.476T>C (p.Leu159Ser)
c.575T>C (p.Leu192Ser)
c.623T>C (p.Leu208Ser)
c.560T>C (p.Leu187Ser)
n.701T>C
16g.20348825A>TCA394985823UMODc.476T>A (p.Leu159Ter)
c.575T>A (p.Leu192Ter)
c.623T>A (p.Leu208Ter)
c.560T>A (p.Leu187Ter)
n.701T>A
16g.20348826A>CCA394985828UMODc.475T>G (p.Leu159Val)
c.574T>G (p.Leu192Val)
c.622T>G (p.Leu208Val)
c.559T>G (p.Leu187Val)
n.700T>G
16g.20348826A>GCA494097170UMODc.475T>C (p.Leu159=)
c.574T>C (p.Leu192=)
c.622T>C (p.Leu208=)
c.559T>C (p.Leu187=)
n.700T>C
16g.20348826A>TCA394985826UMODc.475T>A (p.Leu159Met)
c.574T>A (p.Leu192Met)
c.622T>A (p.Leu208Met)
c.559T>A (p.Leu187Met)
n.700T>A
16g.20348826_20348827delinsACCA2211942842UMODc.474_475delinsGT (p.Gly158=)
c.573_574delinsGT (p.Gly191=)
c.621_622delinsGT (p.Gly207=)
c.558_559delinsGT (p.Gly186=)
n.699_700delinsGT
16g.20348827C>ACA494097171UMODc.474G>T (p.Gly158=)
c.573G>T (p.Gly191=)
c.621G>T (p.Gly207=)
c.558G>T (p.Gly186=)
n.699G>T
16g.20348827C=CA2211942846UMODc.474G= (p.Gly158=)
c.573G= (p.Gly191=)
c.621G= (p.Gly207=)
c.558G= (p.Gly186=)
n.699G=
16g.20348827C>GCA494097172UMODc.474G>C (p.Gly158=)
c.573G>C (p.Gly191=)
c.621G>C (p.Gly207=)
c.558G>C (p.Gly186=)
n.699G>C
 gnomAD v4
16g.20348827C>TCA494097173UMODc.474G>A (p.Gly158=)
c.573G>A (p.Gly191=)
c.621G>A (p.Gly207=)
c.558G>A (p.Gly186=)
n.699G>A
 dbSNP gnomAD v2
16g.20348830delCA2211942845UMODc.474del (p.Leu159TrpfsTer?)
c.573del (p.Leu192TrpfsTer?)
c.621del (p.Leu208TrpfsTer?)
c.558del (p.Leu187TrpfsTer?)
n.699del
 dbSNP gnomAD v4
16g.20348828C>ACA394985830UMODc.473G>T (p.Gly158Val)
c.572G>T (p.Gly191Val)
c.620G>T (p.Gly207Val)
c.557G>T (p.Gly186Val)
n.698G>T
 gnomAD v4
16g.20348828C>GCA394985832UMODc.473G>C (p.Gly158Ala)
c.572G>C (p.Gly191Ala)
c.620G>C (p.Gly207Ala)
c.557G>C (p.Gly186Ala)
n.698G>C
16g.20348828C>TCA394985835UMODc.473G>A (p.Gly158Glu)
c.572G>A (p.Gly191Glu)
c.620G>A (p.Gly207Glu)
c.557G>A (p.Gly186Glu)
n.698G>A
 gnomAD v4
16g.20348829C>ACA394985836UMODc.472G>T (p.Gly158Trp)
c.571G>T (p.Gly191Trp)
c.619G>T (p.Gly207Trp)
c.556G>T (p.Gly186Trp)
n.697G>T
16g.20348829C=CA2211942853UMODc.472G= (p.Gly158=)
c.571G= (p.Gly191=)
c.619G= (p.Gly207=)
c.556G= (p.Gly186=)
n.697G=
16g.20348829C>GCA394985837UMODc.472G>C (p.Gly158Arg)
c.571G>C (p.Gly191Arg)
c.619G>C (p.Gly207Arg)
c.556G>C (p.Gly186Arg)
n.697G>C
 gnomAD v4
16g.20348829C>TCA394985838UMODc.472G>A (p.Gly158Arg)
c.571G>A (p.Gly191Arg)
c.619G>A (p.Gly207Arg)
c.556G>A (p.Gly186Arg)
n.697G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20348830C>ACA494097178UMODc.471G>T (p.Pro157=)
c.570G>T (p.Pro190=)
c.618G>T (p.Pro206=)
c.555G>T (p.Pro185=)
n.696G>T
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348830C=CA2211942856UMODc.471G= (p.Pro157=)
c.570G= (p.Pro190=)
c.618G= (p.Pro206=)
c.555G= (p.Pro185=)
n.696G=
16g.20348830C>GCA494097179UMODc.471G>C (p.Pro157=)
c.570G>C (p.Pro190=)
c.618G>C (p.Pro206=)
c.555G>C (p.Pro185=)
n.696G>C
16g.20348830C>TCA494097182UMODc.471G>A (p.Pro157=)
c.570G>A (p.Pro190=)
c.618G>A (p.Pro206=)
c.555G>A (p.Pro185=)
n.696G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348831G>ACA279299977UMODc.470C>T (p.Pro157Leu)
c.569C>T (p.Pro190Leu)
c.617C>T (p.Pro206Leu)
c.554C>T (p.Pro185Leu)
n.695C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348831G>CCA394985844UMODc.470C>G (p.Pro157Arg)
c.569C>G (p.Pro190Arg)
c.617C>G (p.Pro206Arg)
c.554C>G (p.Pro185Arg)
n.695C>G
16g.20348831G=CA2211942859UMODc.470C= (p.Pro157=)
c.569C= (p.Pro190=)
c.617C= (p.Pro206=)
c.554C= (p.Pro185=)
n.695C=
16g.20348831G>TCA394985842UMODc.470C>A (p.Pro157Gln)
c.569C>A (p.Pro190Gln)
c.617C>A (p.Pro206Gln)
c.554C>A (p.Pro185Gln)
n.695C>A
 gnomAD v4 COSMIC COSMIC
16g.20348832G>ACA394985847UMODc.469C>T (p.Pro157Ser)
c.568C>T (p.Pro190Ser)
c.616C>T (p.Pro206Ser)
c.553C>T (p.Pro185Ser)
n.694C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348832G>CCA394985848UMODc.469C>G (p.Pro157Ala)
c.568C>G (p.Pro190Ala)
c.616C>G (p.Pro206Ala)
c.553C>G (p.Pro185Ala)
n.694C>G
16g.20348832G=CA2211942862UMODc.469C= (p.Pro157=)
c.568C= (p.Pro190=)
c.616C= (p.Pro206=)
c.553C= (p.Pro185=)
n.694C=
16g.20348832G>TCA394985850UMODc.469C>A (p.Pro157Thr)
c.568C>A (p.Pro190Thr)
c.616C>A (p.Pro206Thr)
c.553C>A (p.Pro185Thr)
n.694C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348833C>ACA279299978UMODc.468G>T (p.Gly156=)
c.567G>T (p.Gly189=)
c.615G>T (p.Gly205=)
c.552G>T (p.Gly184=)
n.693G>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348833C=CA2211942867UMODc.468G= (p.Gly156=)
c.567G= (p.Gly189=)
c.615G= (p.Gly205=)
c.552G= (p.Gly184=)
n.693G=
16g.20348833C>GCA494097187UMODc.468G>C (p.Gly156=)
c.567G>C (p.Gly189=)
c.615G>C (p.Gly205=)
c.552G>C (p.Gly184=)
n.693G>C
16g.20348833C>TCA494097185UMODc.468G>A (p.Gly156=)
c.567G>A (p.Gly189=)
c.615G>A (p.Gly205=)
c.552G>A (p.Gly184=)
n.693G>A
16g.20348834C>ACA394985852UMODc.467G>T (p.Gly156Val)
c.566G>T (p.Gly189Val)
c.614G>T (p.Gly205Val)
c.551G>T (p.Gly184Val)
n.692G>T
16g.20348834C>GCA394985855UMODc.467G>C (p.Gly156Ala)
c.566G>C (p.Gly189Ala)
c.614G>C (p.Gly205Ala)
c.551G>C (p.Gly184Ala)
n.692G>C
16g.20348834C>TCA394985856UMODc.467G>A (p.Gly156Glu)
c.566G>A (p.Gly189Glu)
c.614G>A (p.Gly205Glu)
c.551G>A (p.Gly184Glu)
n.692G>A
 gnomAD v4
16g.20348835C>ACA394985859UMODc.466G>T (p.Gly156Trp)
c.565G>T (p.Gly189Trp)
c.613G>T (p.Gly205Trp)
c.550G>T (p.Gly184Trp)
n.691G>T
 gnomAD v4
16g.20348835C=CA2211942870UMODc.466G= (p.Gly156=)
c.565G= (p.Gly189=)
c.613G= (p.Gly205=)
c.550G= (p.Gly184=)
n.691G=
16g.20348835C>GCA394985861UMODc.466G>C (p.Gly156Arg)
c.565G>C (p.Gly189Arg)
c.613G>C (p.Gly205Arg)
c.550G>C (p.Gly184Arg)
n.691G>C
 dbSNP
16g.20348835C>TCA394985860UMODc.466G>A (p.Gly156Arg)
c.565G>A (p.Gly189Arg)
c.613G>A (p.Gly205Arg)
c.550G>A (p.Gly184Arg)
n.691G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348836G>ACA494097191UMODc.465C>T (p.Cys155=)
c.564C>T (p.Cys188=)
c.612C>T (p.Cys204=)
c.549C>T (p.Cys183=)
n.690C>T
 gnomAD v4
16g.20348836G>CCA394985862UMODc.465C>G (p.Cys155Trp)
c.564C>G (p.Cys188Trp)
c.612C>G (p.Cys204Trp)
c.549C>G (p.Cys183Trp)
n.690C>G
16g.20348836G=CA2211942871UMODc.465C= (p.Cys155=)
c.564C= (p.Cys188=)
c.612C= (p.Cys204=)
c.549C= (p.Cys183=)
n.690C=
16g.20348836G>TCA279299981UMODc.465C>A (p.Cys155Ter)
c.564C>A (p.Cys188Ter)
c.612C>A (p.Cys204Ter)
c.549C>A (p.Cys183Ter)
n.690C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348837C>ACA394985865UMODc.464G>T (p.Cys155Phe)
c.563G>T (p.Cys188Phe)
c.611G>T (p.Cys204Phe)
c.548G>T (p.Cys183Phe)
n.689G>T
16g.20348837C>GCA394985867UMODc.464G>C (p.Cys155Ser)
c.563G>C (p.Cys188Ser)
c.611G>C (p.Cys204Ser)
c.548G>C (p.Cys183Ser)
n.689G>C
16g.20348837C>TCA394985869UMODc.464G>A (p.Cys155Tyr)
c.563G>A (p.Cys188Tyr)
c.611G>A (p.Cys204Tyr)
c.548G>A (p.Cys183Tyr)
n.689G>A
16g.20348838A>CCA394985872UMODc.463T>G (p.Cys155Gly)
c.562T>G (p.Cys188Gly)
c.610T>G (p.Cys204Gly)
c.547T>G (p.Cys183Gly)
n.688T>G
16g.20348838A>GCA394985873UMODc.463T>C (p.Cys155Arg)
c.562T>C (p.Cys188Arg)
c.610T>C (p.Cys204Arg)
c.547T>C (p.Cys183Arg)
n.688T>C
16g.20348838A>TCA394985875UMODc.463T>A (p.Cys155Ser)
c.562T>A (p.Cys188Ser)
c.610T>A (p.Cys204Ser)
c.547T>A (p.Cys183Ser)
n.688T>A
16g.20348839G>ACA494097194UMODc.462C>T (p.Ser154=)
c.561C>T (p.Ser187=)
c.609C>T (p.Ser203=)
c.546C>T (p.Ser182=)
n.687C>T
16g.20348839G>CCA494097196UMODc.462C>G (p.Ser154=)
c.561C>G (p.Ser187=)
c.609C>G (p.Ser203=)
c.546C>G (p.Ser182=)
n.687C>G
16g.20348839G>TCA494097195UMODc.462C>A (p.Ser154=)
c.561C>A (p.Ser187=)
c.609C>A (p.Ser203=)
c.546C>A (p.Ser182=)
n.687C>A
 gnomAD v4
16g.20348840G>ACA394985877UMODc.461C>T (p.Ser154Phe)
c.560C>T (p.Ser187Phe)
c.608C>T (p.Ser203Phe)
c.545C>T (p.Ser182Phe)
n.686C>T
16g.20348840G>CCA394985880UMODc.461C>G (p.Ser154Cys)
c.560C>G (p.Ser187Cys)
c.608C>G (p.Ser203Cys)
c.545C>G (p.Ser182Cys)
n.686C>G
16g.20348840G>TCA394985881UMODc.461C>A (p.Ser154Tyr)
c.560C>A (p.Ser187Tyr)
c.608C>A (p.Ser203Tyr)
c.545C>A (p.Ser182Tyr)
n.686C>A
 gnomAD v4
16g.20348841A>CCA394985883UMODc.460T>G (p.Ser154Ala)
c.559T>G (p.Ser187Ala)
c.607T>G (p.Ser203Ala)
c.544T>G (p.Ser182Ala)
n.685T>G
 dbSNP
16g.20348841A>GCA394985885UMODc.460T>C (p.Ser154Pro)
c.559T>C (p.Ser187Pro)
c.607T>C (p.Ser203Pro)
c.544T>C (p.Ser182Pro)
n.685T>C
 gnomAD v4
16g.20348841A>TCA394985884UMODc.460T>A (p.Ser154Thr)
c.559T>A (p.Ser187Thr)
c.607T>A (p.Ser203Thr)
c.544T>A (p.Ser182Thr)
n.685T>A
16g.20348842G>ACA7939445UMODc.459C>T (p.Gly153=)
c.558C>T (p.Gly186=)
c.606C>T (p.Gly202=)
c.543C>T (p.Gly181=)
n.684C>T
 dbSNP ExAC gnomAD v3 gnomAD v4
16g.20348842G>CCA494097204UMODc.459C>G (p.Gly153=)
c.558C>G (p.Gly186=)
c.606C>G (p.Gly202=)
c.543C>G (p.Gly181=)
n.684C>G
 gnomAD v4
16g.20348842G=CA2211942875UMODc.459C= (p.Gly153=)
c.558C= (p.Gly186=)
c.606C= (p.Gly202=)
c.543C= (p.Gly181=)
n.684C=
16g.20348842G>TCA494097206UMODc.459C>A (p.Gly153=)
c.558C>A (p.Gly186=)
c.606C>A (p.Gly202=)
c.543C>A (p.Gly181=)
n.684C>A
 gnomAD v4
16g.20348843C>ACA394985891UMODc.458G>T (p.Gly153Val)
c.557G>T (p.Gly186Val)
c.605G>T (p.Gly202Val)
c.542G>T (p.Gly181Val)
n.683G>T
16g.20348843C>GCA394985889UMODc.458G>C (p.Gly153Ala)
c.557G>C (p.Gly186Ala)
c.605G>C (p.Gly202Ala)
c.542G>C (p.Gly181Ala)
n.683G>C
16g.20348843C>TCA394985893UMODc.458G>A (p.Gly153Asp)
c.557G>A (p.Gly186Asp)
c.605G>A (p.Gly202Asp)
c.542G>A (p.Gly181Asp)
n.683G>A
16g.20348844C>ACA394985894UMODc.457G>T (p.Gly153Cys)
c.556G>T (p.Gly186Cys)
c.604G>T (p.Gly202Cys)
c.541G>T (p.Gly181Cys)
n.682G>T
16g.20348844C=CA2211942879UMODc.457G= (p.Gly153=)
c.556G= (p.Gly186=)
c.604G= (p.Gly202=)
c.541G= (p.Gly181=)
n.682G=
16g.20348844C>GCA394985896UMODc.457G>C (p.Gly153Arg)
c.556G>C (p.Gly186Arg)
c.604G>C (p.Gly202Arg)
c.541G>C (p.Gly181Arg)
n.682G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348844C>TCA279299991UMODc.457G>A (p.Gly153Ser)
c.556G>A (p.Gly186Ser)
c.604G>A (p.Gly202Ser)
c.541G>A (p.Gly181Ser)
n.682G>A
 dbSNP
16g.20348845C>ACA494097210UMODc.456G>T (p.Pro152=)
c.555G>T (p.Pro185=)
c.603G>T (p.Pro201=)
c.540G>T (p.Pro180=)
n.681G>T
 gnomAD v4
16g.20348845C=CA2211942883UMODc.456G= (p.Pro152=)
c.555G= (p.Pro185=)
c.603G= (p.Pro201=)
c.540G= (p.Pro180=)
n.681G=
16g.20348845C>GCA494097212UMODc.456G>C (p.Pro152=)
c.555G>C (p.Pro185=)
c.603G>C (p.Pro201=)
c.540G>C (p.Pro180=)
n.681G>C
 dbSNP
16g.20348845C>TCA494097213UMODc.456G>A (p.Pro152=)
c.555G>A (p.Pro185=)
c.603G>A (p.Pro201=)
c.540G>A (p.Pro180=)
n.681G>A
 gnomAD v4
16g.20348846G>ACA394985899UMODc.455C>T (p.Pro152Leu)
c.554C>T (p.Pro185Leu)
c.602C>T (p.Pro201Leu)
c.539C>T (p.Pro180Leu)
n.680C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20348846G>CCA394985902UMODc.455C>G (p.Pro152Arg)
c.554C>G (p.Pro185Arg)
c.602C>G (p.Pro201Arg)
c.539C>G (p.Pro180Arg)
n.680C>G
16g.20348846G=CA2211942885UMODc.455C= (p.Pro152=)
c.554C= (p.Pro185=)
c.602C= (p.Pro201=)
c.539C= (p.Pro180=)
n.680C=
16g.20348846G>TCA394985903UMODc.455C>A (p.Pro152Gln)
c.554C>A (p.Pro185Gln)
c.602C>A (p.Pro201Gln)
c.539C>A (p.Pro180Gln)
n.680C>A
 gnomAD v4
16g.20348849delCA2632115509UMODc.455del (p.Pro152ArgfsTer?)
c.554del (p.Pro185ArgfsTer?)
c.602del (p.Pro201ArgfsTer?)
c.539del (p.Pro180ArgfsTer?)
n.680del
 gnomAD v4
16g.20348847G>ACA394985906UMODc.454C>T (p.Pro152Ser)
c.553C>T (p.Pro185Ser)
c.601C>T (p.Pro201Ser)
c.538C>T (p.Pro180Ser)
n.679C>T
 gnomAD v4
16g.20348847G>CCA394985907UMODc.454C>G (p.Pro152Ala)
c.553C>G (p.Pro185Ala)
c.601C>G (p.Pro201Ala)
c.538C>G (p.Pro180Ala)
n.679C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348847G=CA2211942888UMODc.454C= (p.Pro152=)
c.553C= (p.Pro185=)
c.601C= (p.Pro201=)
c.538C= (p.Pro180=)
n.679C=
16g.20348847G>TCA394985909UMODc.454C>A (p.Pro152Thr)
c.553C>A (p.Pro185Thr)
c.601C>A (p.Pro201Thr)
c.538C>A (p.Pro180Thr)
n.679C>A
 gnomAD v4
16g.20348848G>ACA494097215UMODc.453C>T (p.Ser151=)
c.552C>T (p.Ser184=)
c.600C>T (p.Ser200=)
c.537C>T (p.Ser179=)
n.678C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348848G>CCA494097216UMODc.453C>G (p.Ser151=)
c.552C>G (p.Ser184=)
c.600C>G (p.Ser200=)
c.537C>G (p.Ser179=)
n.678C>G
16g.20348848G=CA2211942889UMODc.453C= (p.Ser151=)
c.552C= (p.Ser184=)
c.600C= (p.Ser200=)
c.537C= (p.Ser179=)
n.678C=
16g.20348848G>TCA494097217UMODc.453C>A (p.Ser151=)
c.552C>A (p.Ser184=)
c.600C>A (p.Ser200=)
c.537C>A (p.Ser179=)
n.678C>A
 gnomAD v4
16g.20348849G>ACA394985911UMODc.452C>T (p.Ser151Phe)
c.551C>T (p.Ser184Phe)
c.599C>T (p.Ser200Phe)
c.536C>T (p.Ser179Phe)
n.677C>T
16g.20348849G>CCA394985913UMODc.452C>G (p.Ser151Cys)
c.551C>G (p.Ser184Cys)
c.599C>G (p.Ser200Cys)
c.536C>G (p.Ser179Cys)
n.677C>G
16g.20348849G>TCA394985915UMODc.452C>A (p.Ser151Tyr)
c.551C>A (p.Ser184Tyr)
c.599C>A (p.Ser200Tyr)
c.536C>A (p.Ser179Tyr)
n.677C>A
 gnomAD v4
16g.20348850A>CCA394985917UMODc.451T>G (p.Ser151Ala)
c.550T>G (p.Ser184Ala)
c.598T>G (p.Ser200Ala)
c.535T>G (p.Ser179Ala)
n.676T>G
16g.20348850A>GCA394985922UMODc.451T>C (p.Ser151Pro)
c.550T>C (p.Ser184Pro)
c.598T>C (p.Ser200Pro)
c.535T>C (p.Ser179Pro)
n.676T>C
16g.20348850A>TCA394985919UMODc.451T>A (p.Ser151Thr)
c.550T>A (p.Ser184Thr)
c.598T>A (p.Ser200Thr)
c.535T>A (p.Ser179Thr)
n.676T>A
16g.20348851G>ACA494097221UMODc.450C>T (p.Cys150=)
c.549C>T (p.Cys183=)
c.597C>T (p.Cys199=)
c.534C>T (p.Cys178=)
n.675C>T
 gnomAD v4
16g.20348851G>CCA394985924UMODc.450C>G (p.Cys150Trp)
c.549C>G (p.Cys183Trp)
c.597C>G (p.Cys199Trp)
c.534C>G (p.Cys178Trp)
n.675C>G
16g.20348851G>TCA394985926UMODc.450C>A (p.Cys150Ter)
c.549C>A (p.Cys183Ter)
c.597C>A (p.Cys199Ter)
c.534C>A (p.Cys178Ter)
n.675C>A
 gnomAD v4
16g.20348852C>ACA394985928UMODc.449G>T (p.Cys150Phe)
c.548G>T (p.Cys183Phe)
c.596G>T (p.Cys199Phe)
c.533G>T (p.Cys178Phe)
n.674G>T
 gnomAD v4
16g.20348852C>GCA394985930UMODc.449G>C (p.Cys150Ser)
c.548G>C (p.Cys183Ser)
c.596G>C (p.Cys199Ser)
c.533G>C (p.Cys178Ser)
n.674G>C
16g.20348852C>TCA394985932UMODc.449G>A (p.Cys150Tyr)
c.548G>A (p.Cys183Tyr)
c.596G>A (p.Cys199Tyr)
c.533G>A (p.Cys178Tyr)
n.674G>A
 gnomAD v4
16g.20348853A>CCA394985933UMODc.448T>G (p.Cys150Gly)
c.547T>G (p.Cys183Gly)
c.595T>G (p.Cys199Gly)
c.532T>G (p.Cys178Gly)
n.673T>G
16g.20348853A>GCA394985935UMODc.448T>C (p.Cys150Arg)
c.547T>C (p.Cys183Arg)
c.595T>C (p.Cys199Arg)
c.532T>C (p.Cys178Arg)
n.673T>C
 gnomAD v4
16g.20348853A>TCA394985936UMODc.448T>A (p.Cys150Ser)
c.547T>A (p.Cys183Ser)
c.595T>A (p.Cys199Ser)
c.532T>A (p.Cys178Ser)
n.673T>A
 gnomAD v4
16g.20348854C>ACA394985937UMODc.447G>T (p.Glu149Asp)
c.546G>T (p.Glu182Asp)
c.594G>T (p.Glu198Asp)
c.531G>T (p.Glu177Asp)
n.672G>T
 gnomAD v4
16g.20348854C=CA2211942891UMODc.447G= (p.Glu149=)
c.546G= (p.Glu182=)
c.594G= (p.Glu198=)
c.531G= (p.Glu177=)
n.672G=
16g.20348854C>GCA394985940UMODc.447G>C (p.Glu149Asp)
c.546G>C (p.Glu182Asp)
c.594G>C (p.Glu198Asp)
c.531G>C (p.Glu177Asp)
n.672G>C
16g.20348854C>TCA494097227UMODc.447G>A (p.Glu149=)
c.546G>A (p.Glu182=)
c.594G>A (p.Glu198=)
c.531G>A (p.Glu177=)
n.672G>A
 dbSNP gnomAD v4
16g.20348855T>ACA394985942UMODc.446A>T (p.Glu149Val)
c.545A>T (p.Glu182Val)
c.593A>T (p.Glu198Val)
c.530A>T (p.Glu177Val)
n.671A>T
16g.20348855T>CCA394985943UMODc.446A>G (p.Glu149Gly)
c.545A>G (p.Glu182Gly)
c.593A>G (p.Glu198Gly)
c.530A>G (p.Glu177Gly)
n.671A>G
16g.20348855T>GCA394985941UMODc.446A>C (p.Glu149Ala)
c.545A>C (p.Glu182Ala)
c.593A>C (p.Glu198Ala)
c.530A>C (p.Glu177Ala)
n.671A>C
16g.20348856C>ACA394985944UMODc.445G>T (p.Glu149Ter)
c.544G>T (p.Glu182Ter)
c.592G>T (p.Glu198Ter)
c.529G>T (p.Glu177Ter)
n.670G>T
 gnomAD v4 COSMIC COSMIC
16g.20348856C>GCA394985945UMODc.445G>C (p.Glu149Gln)
c.544G>C (p.Glu182Gln)
c.592G>C (p.Glu198Gln)
c.529G>C (p.Glu177Gln)
n.670G>C
16g.20348856C>TCA394985946UMODc.445G>A (p.Glu149Lys)
c.544G>A (p.Glu182Lys)
c.592G>A (p.Glu198Lys)
c.529G>A (p.Glu177Lys)
n.670G>A
16g.20348857A=CA2211942892UMODc.444T= (p.Cys148=)
c.543T= (p.Cys181=)
c.591T= (p.Cys197=)
c.528T= (p.Cys176=)
n.669T=
16g.20348857A>CCA394985947UMODc.444T>G (p.Cys148Trp)
c.543T>G (p.Cys181Trp)
c.591T>G (p.Cys197Trp)
c.528T>G (p.Cys176Trp)
n.669T>G
 ClinVar dbSNP
16g.20348857A>GCA494097231UMODc.444T>C (p.Cys148=)
c.543T>C (p.Cys181=)
c.591T>C (p.Cys197=)
c.528T>C (p.Cys176=)
n.669T>C
 gnomAD v4
16g.20348857A>TCA394985949UMODc.444T>A (p.Cys148Ter)
c.543T>A (p.Cys181Ter)
c.591T>A (p.Cys197Ter)
c.528T>A (p.Cys176Ter)
n.669T>A
16g.20348858C>ACA394985950UMODc.443G>T (p.Cys148Phe)
c.542G>T (p.Cys181Phe)
c.590G>T (p.Cys197Phe)
c.527G>T (p.Cys176Phe)
n.668G>T
 gnomAD v4
16g.20348858C=CA2211942897UMODc.443G= (p.Cys148=)
c.542G= (p.Cys181=)
c.590G= (p.Cys197=)
c.527G= (p.Cys176=)
n.668G=
16g.20348858C>GCA394985952UMODc.443G>C (p.Cys148Ser)
c.542G>C (p.Cys181Ser)
c.590G>C (p.Cys197Ser)
c.527G>C (p.Cys176Ser)
n.668G>C
16g.20348858C>TCA256238UMODc.443G>A (p.Cys148Tyr)
c.542G>A (p.Cys181Tyr)
c.590G>A (p.Cys197Tyr)
c.527G>A (p.Cys176Tyr)
n.668G>A
 ClinVar dbSNP gnomAD v4
16g.20348859A>CCA394985953UMODc.442T>G (p.Cys148Gly)
c.541T>G (p.Cys181Gly)
c.589T>G (p.Cys197Gly)
c.526T>G (p.Cys176Gly)
n.667T>G
16g.20348859A>GCA394985954UMODc.442T>C (p.Cys148Arg)
c.541T>C (p.Cys181Arg)
c.589T>C (p.Cys197Arg)
c.526T>C (p.Cys176Arg)
n.667T>C
16g.20348859A>TCA394985955UMODc.442T>A (p.Cys148Ser)
c.541T>A (p.Cys181Ser)
c.589T>A (p.Cys197Ser)
c.526T>A (p.Cys176Ser)
n.667T>A
 ClinVar
16g.20348860G>ACA494097234UMODc.441C>T (p.His147=)
c.540C>T (p.His180=)
c.588C>T (p.His196=)
c.525C>T (p.His175=)
n.666C>T
 gnomAD v4
16g.20348860G>CCA394985957UMODc.441C>G (p.His147Gln)
c.540C>G (p.His180Gln)
c.588C>G (p.His196Gln)
c.525C>G (p.His175Gln)
n.666C>G
16g.20348860G>TCA394985959UMODc.441C>A (p.His147Gln)
c.540C>A (p.His180Gln)
c.588C>A (p.His196Gln)
c.525C>A (p.His175Gln)
n.666C>A
 gnomAD v4
16g.20348861T>ACA394985963UMODc.440A>T (p.His147Leu)
c.539A>T (p.His180Leu)
c.587A>T (p.His196Leu)
c.524A>T (p.His175Leu)
n.665A>T
 gnomAD v4
16g.20348861T>CCA394985962UMODc.440A>G (p.His147Arg)
c.539A>G (p.His180Arg)
c.587A>G (p.His196Arg)
c.524A>G (p.His175Arg)
n.665A>G
16g.20348861T>GCA394985961UMODc.440A>C (p.His147Pro)
c.539A>C (p.His180Pro)
c.587A>C (p.His196Pro)
c.524A>C (p.His175Pro)
n.665A>C
16g.20348862G>ACA7939446UMODc.439C>T (p.His147Tyr)
c.538C>T (p.His180Tyr)
c.586C>T (p.His196Tyr)
c.523C>T (p.His175Tyr)
n.664C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348862G>CCA394985966UMODc.439C>G (p.His147Asp)
c.538C>G (p.His180Asp)
c.586C>G (p.His196Asp)
c.523C>G (p.His175Asp)
n.664C>G
 gnomAD v4
16g.20348862G=CA2211942905UMODc.439C= (p.His147=)
c.538C= (p.His180=)
c.586C= (p.His196=)
c.523C= (p.His175=)
n.664C=
16g.20348862G>TCA394985967UMODc.439C>A (p.His147Asn)
c.538C>A (p.His180Asn)
c.586C>A (p.His196Asn)
c.523C>A (p.His175Asn)
n.664C>A
 gnomAD v4
16g.20348863C>ACA394985968UMODc.438G>T (p.Trp146Cys)
c.537G>T (p.Trp179Cys)
c.585G>T (p.Trp195Cys)
c.522G>T (p.Trp174Cys)
n.663G>T
 gnomAD v4
16g.20348863C>GCA394985969UMODc.438G>C (p.Trp146Cys)
c.537G>C (p.Trp179Cys)
c.585G>C (p.Trp195Cys)
c.522G>C (p.Trp174Cys)
n.663G>C
16g.20348863C>TCA394985971UMODc.438G>A (p.Trp146Ter)
c.537G>A (p.Trp179Ter)
c.585G>A (p.Trp195Ter)
c.522G>A (p.Trp174Ter)
n.663G>A
 gnomAD v4
16g.20348864C>ACA394985973UMODc.437G>T (p.Trp146Leu)
c.536G>T (p.Trp179Leu)
c.584G>T (p.Trp195Leu)
c.521G>T (p.Trp174Leu)
n.662G>T
16g.20348864C>GCA394985975UMODc.437G>C (p.Trp146Ser)
c.536G>C (p.Trp179Ser)
c.584G>C (p.Trp195Ser)
c.521G>C (p.Trp174Ser)
n.662G>C
 COSMIC COSMIC
16g.20348864C>TCA394985976UMODc.437G>A (p.Trp146Ter)
c.536G>A (p.Trp179Ter)
c.584G>A (p.Trp195Ter)
c.521G>A (p.Trp174Ter)
n.662G>A
16g.20348865A=CA2211942908UMODc.436T= (p.Trp146=)
c.535T= (p.Trp179=)
c.583T= (p.Trp195=)
c.520T= (p.Trp174=)
n.661T=
16g.20348865A>CCA394985977UMODc.436T>G (p.Trp146Gly)
c.535T>G (p.Trp179Gly)
c.583T>G (p.Trp195Gly)
c.520T>G (p.Trp174Gly)
n.661T>G
16g.20348865A>GCA394985978UMODc.436T>C (p.Trp146Arg)
c.535T>C (p.Trp179Arg)
c.583T>C (p.Trp195Arg)
c.520T>C (p.Trp174Arg)
n.661T>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348865A>TCA394985979UMODc.436T>A (p.Trp146Arg)
c.535T>A (p.Trp179Arg)
c.583T>A (p.Trp195Arg)
c.520T>A (p.Trp174Arg)
n.661T>A
16g.20348866T>ACA494097250UMODc.435A>T (p.Gly145=)
c.534A>T (p.Gly178=)
c.582A>T (p.Gly194=)
c.519A>T (p.Gly173=)
n.660A>T
16g.20348866T>CCA494097248UMODc.435A>G (p.Gly145=)
c.534A>G (p.Gly178=)
c.582A>G (p.Gly194=)
c.519A>G (p.Gly173=)
n.660A>G
16g.20348866T>GCA494097249UMODc.435A>C (p.Gly145=)
c.534A>C (p.Gly178=)
c.582A>C (p.Gly194=)
c.519A>C (p.Gly173=)
n.660A>C
16g.20348867C>ACA394985983UMODc.434G>T (p.Gly145Val)
c.533G>T (p.Gly178Val)
c.581G>T (p.Gly194Val)
c.518G>T (p.Gly173Val)
n.659G>T
 ClinVar
16g.20348867C>GCA394985982UMODc.434G>C (p.Gly145Ala)
c.533G>C (p.Gly178Ala)
c.581G>C (p.Gly194Ala)
c.518G>C (p.Gly173Ala)
n.659G>C
16g.20348867C>TCA394985980UMODc.434G>A (p.Gly145Glu)
c.533G>A (p.Gly178Glu)
c.581G>A (p.Gly194Glu)
c.518G>A (p.Gly173Glu)
n.659G>A
 gnomAD v4
16g.20348868C>ACA394985985UMODc.433G>T (p.Gly145Ter)
c.532G>T (p.Gly178Ter)
c.580G>T (p.Gly194Ter)
c.517G>T (p.Gly173Ter)
n.658G>T
 gnomAD v4
16g.20348868C>GCA394985986UMODc.433G>C (p.Gly145Arg)
c.532G>C (p.Gly178Arg)
c.580G>C (p.Gly194Arg)
c.517G>C (p.Gly173Arg)
n.658G>C
16g.20348868C>TCA394985987UMODc.433G>A (p.Gly145Arg)
c.532G>A (p.Gly178Arg)
c.580G>A (p.Gly194Arg)
c.517G>A (p.Gly173Arg)
n.658G>A
 gnomAD v4
16g.20348869A=CA2211942911UMODc.432T= (p.Asp144=)
c.531T= (p.Asp177=)
c.579T= (p.Asp193=)
c.516T= (p.Asp172=)
n.657T=
16g.20348869A>CCA394985989UMODc.432T>G (p.Asp144Glu)
c.531T>G (p.Asp177Glu)
c.579T>G (p.Asp193Glu)
c.516T>G (p.Asp172Glu)
n.657T>G
16g.20348869A>GCA494097256UMODc.432T>C (p.Asp144=)
c.531T>C (p.Asp177=)
c.579T>C (p.Asp193=)
c.516T>C (p.Asp172=)
n.657T>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348869A>TCA394985991UMODc.432T>A (p.Asp144Glu)
c.531T>A (p.Asp177Glu)
c.579T>A (p.Asp193Glu)
c.516T>A (p.Asp172Glu)
n.657T>A
16g.20348870T>ACA394985992UMODc.431A>T (p.Asp144Val)
c.530A>T (p.Asp177Val)
c.578A>T (p.Asp193Val)
c.515A>T (p.Asp172Val)
n.656A>T
 dbSNP
16g.20348870T>CCA394985994UMODc.431A>G (p.Asp144Gly)
c.530A>G (p.Asp177Gly)
c.578A>G (p.Asp193Gly)
c.515A>G (p.Asp172Gly)
n.656A>G
 gnomAD v4
16g.20348870T>GCA394985995UMODc.431A>C (p.Asp144Ala)
c.530A>C (p.Asp177Ala)
c.578A>C (p.Asp193Ala)
c.515A>C (p.Asp172Ala)
n.656A>C
16g.20348870T=CA2211942913UMODc.431A= (p.Asp144=)
c.530A= (p.Asp177=)
c.578A= (p.Asp193=)
c.515A= (p.Asp172=)
n.656A=
16g.20348870_20348871delinsTCCA2211942912UMODc.430_431delinsGA (p.Asp144=)
c.529_530delinsGA (p.Asp177=)
c.577_578delinsGA (p.Asp193=)
c.514_515delinsGA (p.Asp172=)
n.655_656delinsGA
16g.20348871C>ACA394985997UMODc.430G>T (p.Asp144Tyr)
c.529G>T (p.Asp177Tyr)
c.577G>T (p.Asp193Tyr)
c.514G>T (p.Asp172Tyr)
n.655G>T
 gnomAD v4 COSMIC COSMIC
16g.20348871C=CA2211942920UMODc.430G= (p.Asp144=)
c.529G= (p.Asp177=)
c.577G= (p.Asp193=)
c.514G= (p.Asp172=)
n.655G=
16g.20348871C>GCA394985998UMODc.430G>C (p.Asp144His)
c.529G>C (p.Asp177His)
c.577G>C (p.Asp193His)
c.514G>C (p.Asp172His)
n.655G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348871C>TCA7939448UMODc.430G>A (p.Asp144Asn)
c.529G>A (p.Asp177Asn)
c.577G>A (p.Asp193Asn)
c.514G>A (p.Asp172Asn)
n.655G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348876dupCA621658533UMODc.430dup (p.Asp144GlyfsTer6)
c.529dup (p.Asp177GlyfsTer6)
c.577dup (p.Asp193GlyfsTer6)
c.514dup (p.Asp172GlyfsTer6)
n.655dup
 gnomAD v2 gnomAD v4
16g.20348876delCA7939447UMODc.430del (p.Asp144MetfsTer?)
c.529del (p.Asp177MetfsTer?)
c.577del (p.Asp193MetfsTer?)
c.514del (p.Asp172MetfsTer?)
n.655del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348872C>ACA494097267UMODc.429G>T (p.Gly143=)
c.528G>T (p.Gly176=)
c.576G>T (p.Gly192=)
c.513G>T (p.Gly171=)
n.654G>T
 gnomAD v4
16g.20348872C=CA2211942932UMODc.429G= (p.Gly143=)
c.528G= (p.Gly176=)
c.576G= (p.Gly192=)
c.513G= (p.Gly171=)
n.654G=
16g.20348872C>GCA494097268UMODc.429G>C (p.Gly143=)
c.528G>C (p.Gly176=)
c.576G>C (p.Gly192=)
c.513G>C (p.Gly171=)
n.654G>C
16g.20348872C>TCA7939449UMODc.429G>A (p.Gly143=)
c.528G>A (p.Gly176=)
c.576G>A (p.Gly192=)
c.513G>A (p.Gly171=)
n.654G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348872_20348877delinsCCCCCGCA2211942934UMODc.424_429delinsCGGGGG (p.Arg142=)
c.523_528delinsCGGGGG (p.Arg175=)
c.571_576delinsCGGGGG (p.Arg191=)
c.508_513delinsCGGGGG (p.Arg170=)
n.649_654delinsCGGGGG
16g.20348873C>ACA394986004UMODc.428G>T (p.Gly143Val)
c.527G>T (p.Gly176Val)
c.575G>T (p.Gly192Val)
c.512G>T (p.Gly171Val)
n.653G>T
 dbSNP gnomAD v4
16g.20348873C=CA2211942935UMODc.428G= (p.Gly143=)
c.527G= (p.Gly176=)
c.575G= (p.Gly192=)
c.512G= (p.Gly171=)
n.653G=
16g.20348873C>GCA394986003UMODc.428G>C (p.Gly143Ala)
c.527G>C (p.Gly176Ala)
c.575G>C (p.Gly192Ala)
c.512G>C (p.Gly171Ala)
n.653G>C
16g.20348873C>TCA394986002UMODc.428G>A (p.Gly143Glu)
c.527G>A (p.Gly176Glu)
c.575G>A (p.Gly192Glu)
c.512G>A (p.Gly171Glu)
n.653G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348873_20348877delCA919672136UMODc.424_428del (p.Arg142GlyfsTer6)
c.523_527del (p.Arg175GlyfsTer6)
c.571_575del (p.Arg191GlyfsTer6)
c.508_512del (p.Arg170GlyfsTer6)
n.649_653del
 dbSNP
16g.20348874C>ACA394986006UMODc.427G>T (p.Gly143Trp)
c.526G>T (p.Gly176Trp)
c.574G>T (p.Gly192Trp)
c.511G>T (p.Gly171Trp)
n.652G>T
 gnomAD v4
16g.20348874C>GCA394986007UMODc.427G>C (p.Gly143Arg)
c.526G>C (p.Gly176Arg)
c.574G>C (p.Gly192Arg)
c.511G>C (p.Gly171Arg)
n.652G>C
16g.20348874C>TCA394986009UMODc.427G>A (p.Gly143Arg)
c.526G>A (p.Gly176Arg)
c.574G>A (p.Gly192Arg)
c.511G>A (p.Gly171Arg)
n.652G>A
16g.20348875C>ACA494097274UMODc.426G>T (p.Arg142=)
c.525G>T (p.Arg175=)
c.573G>T (p.Arg191=)
c.510G>T (p.Arg170=)
n.651G>T
 gnomAD v4
16g.20348875C=CA2211942940UMODc.426G= (p.Arg142=)
c.525G= (p.Arg175=)
c.573G= (p.Arg191=)
c.510G= (p.Arg170=)
n.651G=
16g.20348875C>GCA494097275UMODc.426G>C (p.Arg142=)
c.525G>C (p.Arg175=)
c.573G>C (p.Arg191=)
c.510G>C (p.Arg170=)
n.651G>C
16g.20348875C>TCA494097276UMODc.426G>A (p.Arg142=)
c.525G>A (p.Arg175=)
c.573G>A (p.Arg191=)
c.510G>A (p.Arg170=)
n.651G>A
 dbSNP gnomAD v2
16g.20348876C>ACA394986011UMODc.425G>T (p.Arg142Leu)
c.524G>T (p.Arg175Leu)
c.572G>T (p.Arg191Leu)
c.509G>T (p.Arg170Leu)
n.650G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348876C=CA2211942966UMODc.425G= (p.Arg142=)
c.524G= (p.Arg175=)
c.572G= (p.Arg191=)
c.509G= (p.Arg170=)
n.650G=
16g.20348876C>GCA394986012UMODc.425G>C (p.Arg142Pro)
c.524G>C (p.Arg175Pro)
c.572G>C (p.Arg191Pro)
c.509G>C (p.Arg170Pro)
n.650G>C
 dbSNP gnomAD v2
16g.20348876C>TCA7939450UMODc.425G>A (p.Arg142Gln)
c.524G>A (p.Arg175Gln)
c.572G>A (p.Arg191Gln)
c.509G>A (p.Arg170Gln)
n.650G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.20348877G>ACA394986014UMODc.424C>T (p.Arg142Trp)
c.523C>T (p.Arg175Trp)
c.571C>T (p.Arg191Trp)
c.508C>T (p.Arg170Trp)
n.649C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348877G>CCA394986015UMODc.424C>G (p.Arg142Gly)
c.523C>G (p.Arg175Gly)
c.571C>G (p.Arg191Gly)
c.508C>G (p.Arg170Gly)
n.649C>G
 gnomAD v4
16g.20348877G=CA2211942973UMODc.424C= (p.Arg142=)
c.523C= (p.Arg175=)
c.571C= (p.Arg191=)
c.508C= (p.Arg170=)
n.649C=
16g.20348877G>TCA494097280UMODc.424C>A (p.Arg142=)
c.523C>A (p.Arg175=)
c.571C>A (p.Arg191=)
c.508C>A (p.Arg170=)
n.649C>A
 gnomAD v4
16g.20348878dupCA2632115511UMODc.424dup (p.Arg142ProfsTer8)
c.523dup (p.Arg175ProfsTer8)
c.571dup (p.Arg191ProfsTer8)
c.508dup (p.Arg170ProfsTer8)
n.649dup
 gnomAD v4
16g.20348878G>ACA7939451UMODc.423C>T (p.Tyr141=)
c.522C>T (p.Tyr174=)
c.570C>T (p.Tyr190=)
c.507C>T (p.Tyr169=)
n.648C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348878G>CCA394986018UMODc.423C>G (p.Tyr141Ter)
c.522C>G (p.Tyr174Ter)
c.570C>G (p.Tyr190Ter)
c.507C>G (p.Tyr169Ter)
n.648C>G
 gnomAD v4
16g.20348878G=CA2211942976UMODc.423C= (p.Tyr141=)
c.522C= (p.Tyr174=)
c.570C= (p.Tyr190=)
c.507C= (p.Tyr169=)
n.648C=
16g.20348878G>TCA394986019UMODc.423C>A (p.Tyr141Ter)
c.522C>A (p.Tyr174Ter)
c.570C>A (p.Tyr190Ter)
c.507C>A (p.Tyr169Ter)
n.648C>A
 gnomAD v4
16g.20348879T>ACA394986020UMODc.422A>T (p.Tyr141Phe)
c.521A>T (p.Tyr174Phe)
c.569A>T (p.Tyr190Phe)
c.506A>T (p.Tyr169Phe)
n.647A>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348879T>CCA394986021UMODc.422A>G (p.Tyr141Cys)
c.521A>G (p.Tyr174Cys)
c.569A>G (p.Tyr190Cys)
c.506A>G (p.Tyr169Cys)
n.647A>G
 dbSNP
16g.20348879T>GCA394986023UMODc.422A>C (p.Tyr141Ser)
c.521A>C (p.Tyr174Ser)
c.569A>C (p.Tyr190Ser)
c.506A>C (p.Tyr169Ser)
n.647A>C
16g.20348879T=CA2211942978UMODc.422A= (p.Tyr141=)
c.521A= (p.Tyr174=)
c.569A= (p.Tyr190=)
c.506A= (p.Tyr169=)
n.647A=
16g.20348880A=CA2211942984UMODc.421T= (p.Tyr141=)
c.520T= (p.Tyr174=)
c.568T= (p.Tyr190=)
c.505T= (p.Tyr169=)
n.646T=
16g.20348880A>CCA394986026UMODc.421T>G (p.Tyr141Asp)
c.520T>G (p.Tyr174Asp)
c.568T>G (p.Tyr190Asp)
c.505T>G (p.Tyr169Asp)
n.646T>G
16g.20348880A>GCA7939452UMODc.421T>C (p.Tyr141His)
c.520T>C (p.Tyr174His)
c.568T>C (p.Tyr190His)
c.505T>C (p.Tyr169His)
n.646T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348880A>TCA394986024UMODc.421T>A (p.Tyr141Asn)
c.520T>A (p.Tyr174Asn)
c.568T>A (p.Tyr190Asn)
c.505T>A (p.Tyr169Asn)
n.646T>A
16g.20348881G>ACA494097290UMODc.420C>T (p.Gly140=)
c.519C>T (p.Gly173=)
c.567C>T (p.Gly189=)
c.504C>T (p.Gly168=)
n.645C>T
 gnomAD v4
16g.20348881G>CCA494097295UMODc.420C>G (p.Gly140=)
c.519C>G (p.Gly173=)
c.567C>G (p.Gly189=)
c.504C>G (p.Gly168=)
n.645C>G
 gnomAD v4
16g.20348881G>TCA494097296UMODc.420C>A (p.Gly140=)
c.519C>A (p.Gly173=)
c.567C>A (p.Gly189=)
c.504C>A (p.Gly168=)
n.645C>A
 gnomAD v4 COSMIC
16g.20348882C>ACA394986028UMODc.419G>T (p.Gly140Val)
c.518G>T (p.Gly173Val)
c.566G>T (p.Gly189Val)
c.503G>T (p.Gly168Val)
n.644G>T
 gnomAD v4
16g.20348882C>GCA394986029UMODc.419G>C (p.Gly140Ala)
c.518G>C (p.Gly173Ala)
c.566G>C (p.Gly189Ala)
c.503G>C (p.Gly168Ala)
n.644G>C
16g.20348882C>TCA394986031UMODc.419G>A (p.Gly140Asp)
c.518G>A (p.Gly173Asp)
c.566G>A (p.Gly189Asp)
c.503G>A (p.Gly168Asp)
n.644G>A
 gnomAD v4
16g.20348883C>ACA394986033UMODc.418G>T (p.Gly140Cys)
c.517G>T (p.Gly173Cys)
c.565G>T (p.Gly189Cys)
c.502G>T (p.Gly168Cys)
n.643G>T
 gnomAD v4
16g.20348883C=CA2211942989UMODc.418G= (p.Gly140=)
c.517G= (p.Gly173=)
c.565G= (p.Gly189=)
c.502G= (p.Gly168=)
n.643G=
16g.20348883C>GCA394986035UMODc.418G>C (p.Gly140Arg)
c.517G>C (p.Gly173Arg)
c.565G>C (p.Gly189Arg)
c.502G>C (p.Gly168Arg)
n.643G>C
16g.20348883C>TCA394986036UMODc.418G>A (p.Gly140Ser)
c.517G>A (p.Gly173Ser)
c.565G>A (p.Gly189Ser)
c.502G>A (p.Gly168Ser)
n.643G>A
 dbSNP
16g.20348884C>ACA494097302UMODc.417G>T (p.Ala139=)
c.516G>T (p.Ala172=)
c.564G>T (p.Ala188=)
c.501G>T (p.Ala167=)
n.642G>T
 gnomAD v4
16g.20348884C>GCA494097303UMODc.417G>C (p.Ala139=)
c.516G>C (p.Ala172=)
c.564G>C (p.Ala188=)
c.501G>C (p.Ala167=)
n.642G>C
 gnomAD v4
16g.20348884C>TCA494097304UMODc.417G>A (p.Ala139=)
c.516G>A (p.Ala172=)
c.564G>A (p.Ala188=)
c.501G>A (p.Ala167=)
n.642G>A
 gnomAD v4
16g.20348885G>ACA7939453UMODc.416C>T (p.Ala139Val)
c.515C>T (p.Ala172Val)
c.563C>T (p.Ala188Val)
c.500C>T (p.Ala167Val)
n.641C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348885G>CCA394986038UMODc.416C>G (p.Ala139Gly)
c.515C>G (p.Ala172Gly)
c.563C>G (p.Ala188Gly)
c.500C>G (p.Ala167Gly)
n.641C>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348885G=CA2211942999UMODc.416C= (p.Ala139=)
c.515C= (p.Ala172=)
c.563C= (p.Ala188=)
c.500C= (p.Ala167=)
n.641C=
16g.20348885G>TCA279300041UMODc.416C>A (p.Ala139Glu)
c.515C>A (p.Ala172Glu)
c.563C>A (p.Ala188Glu)
c.500C>A (p.Ala167Glu)
n.641C>A
 dbSNP gnomAD v4
16g.20348886C>ACA394986040UMODc.415G>T (p.Ala139Ser)
c.514G>T (p.Ala172Ser)
c.562G>T (p.Ala188Ser)
c.484G>T
c.499G>T (p.Ala167Ser)
n.640G>T
 gnomAD v4
16g.20348886C=CA2211943002UMODc.415G= (p.Ala139=)
c.514G= (p.Ala172=)
c.562G= (p.Ala188=)
c.484G=
c.499G= (p.Ala167=)
n.640G=
16g.20348886C>GCA394986041UMODc.415G>C (p.Ala139Pro)
c.514G>C (p.Ala172Pro)
c.562G>C (p.Ala188Pro)
c.484G>C
c.499G>C (p.Ala167Pro)
n.640G>C
16g.20348886C>TCA394986043UMODc.415G>A (p.Ala139Thr)
c.514G>A (p.Ala172Thr)
c.562G>A (p.Ala188Thr)
c.484G>A
c.499G>A (p.Ala167Thr)
n.640G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348887G>ACA494097308UMODc.414C>T (p.Pro138=)
c.513C>T (p.Pro171=)
c.561C>T (p.Pro187=)
c.483C>T (p.Pro161=)
c.498C>T (p.Pro166=)
n.639C>T
 gnomAD v4
16g.20348887G>CCA494097311UMODc.414C>G (p.Pro138=)
c.513C>G (p.Pro171=)
c.561C>G (p.Pro187=)
c.483C>G (p.Pro161=)
c.498C>G (p.Pro166=)
n.639C>G
 gnomAD v4
16g.20348887G>TCA494097310UMODc.414C>A (p.Pro138=)
c.513C>A (p.Pro171=)
c.561C>A (p.Pro187=)
c.483C>A (p.Pro161=)
c.498C>A (p.Pro166=)
n.639C>A
 gnomAD v4
16g.20348890delCA2632115512UMODc.414del (p.Ala139ArgfsTer?)
c.513del (p.Ala172ArgfsTer?)
c.561del (p.Ala188ArgfsTer?)
c.483del (p.Pro161=)
c.498del (p.Ala167ArgfsTer?)
n.639del
 gnomAD v4
16g.20348888G>ACA394986049UMODc.413C>T (p.Pro138Leu)
c.512C>T (p.Pro171Leu)
c.560C>T (p.Pro187Leu)
c.482C>T (p.Pro161Leu)
c.497C>T (p.Pro166Leu)
n.638C>T
 gnomAD v4
16g.20348888G>CCA394986046UMODc.413C>G (p.Pro138Arg)
c.512C>G (p.Pro171Arg)
c.560C>G (p.Pro187Arg)
c.482C>G (p.Pro161Arg)
c.497C>G (p.Pro166Arg)
n.638C>G
16g.20348888G>TCA394986047UMODc.413C>A (p.Pro138His)
c.512C>A (p.Pro171His)
c.560C>A (p.Pro187His)
c.482C>A (p.Pro161His)
c.497C>A (p.Pro166His)
n.638C>A
 gnomAD v4
16g.20348889G>ACA394986050UMODc.412C>T (p.Pro138Ser)
c.511C>T (p.Pro171Ser)
c.559C>T (p.Pro187Ser)
c.481C>T (p.Pro161Ser)
c.496C>T (p.Pro166Ser)
n.637C>T
 dbSNP gnomAD v4
16g.20348889G>CCA394986051UMODc.412C>G (p.Pro138Ala)
c.511C>G (p.Pro171Ala)
c.559C>G (p.Pro187Ala)
c.481C>G (p.Pro161Ala)
c.496C>G (p.Pro166Ala)
n.637C>G
16g.20348889G=CA2211943022UMODc.412C= (p.Pro138=)
c.511C= (p.Pro171=)
c.559C= (p.Pro187=)
c.481C= (p.Pro161=)
c.496C= (p.Pro166=)
n.637C=
16g.20348889G>TCA394986055UMODc.412C>A (p.Pro138Thr)
c.511C>A (p.Pro171Thr)
c.559C>A (p.Pro187Thr)
c.481C>A (p.Pro161Thr)
c.496C>A (p.Pro166Thr)
n.637C>A
 gnomAD v4
16g.20348890G>ACA494097315UMODc.411C>T (p.Cys137=)
c.510C>T (p.Cys170=)
c.558C>T (p.Cys186=)
c.480C>T (p.Cys160=)
c.495C>T (p.Cys165=)
n.636C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348890G>CCA394986056UMODc.411C>G (p.Cys137Trp)
c.510C>G (p.Cys170Trp)
c.558C>G (p.Cys186Trp)
c.480C>G (p.Cys160Trp)
c.495C>G (p.Cys165Trp)
n.636C>G
 ClinVar dbSNP
16g.20348890G=CA2211943033UMODc.411C= (p.Cys137=)
c.510C= (p.Cys170=)
c.558C= (p.Cys186=)
c.480C= (p.Cys160=)
c.495C= (p.Cys165=)
n.636C=
16g.20348890G>TCA394986058UMODc.411C>A (p.Cys137Ter)
c.510C>A (p.Cys170Ter)
c.558C>A (p.Cys186Ter)
c.480C>A (p.Cys160Ter)
c.495C>A (p.Cys165Ter)
n.636C>A
 gnomAD v4
16g.20348891C>ACA394986060UMODc.410G>T (p.Cys137Phe)
c.509G>T (p.Cys170Phe)
c.557G>T (p.Cys186Phe)
c.479G>T (p.Cys160Phe)
c.494G>T (p.Cys165Phe)
n.635G>T
 gnomAD v4
16g.20348891C>GCA394986061UMODc.410G>C (p.Cys137Ser)
c.509G>C (p.Cys170Ser)
c.557G>C (p.Cys186Ser)
c.479G>C (p.Cys160Ser)
c.494G>C (p.Cys165Ser)
n.635G>C
16g.20348891C>TCA394986062UMODc.410G>A (p.Cys137Tyr)
c.509G>A (p.Cys170Tyr)
c.557G>A (p.Cys186Tyr)
c.479G>A (p.Cys160Tyr)
c.494G>A (p.Cys165Tyr)
n.635G>A
 gnomAD v4
16g.20348891dupCA2632115513UMODc.410dup (p.Cys137TrpfsTer13)
c.509dup (p.Cys170TrpfsTer13)
c.557dup (p.Cys186TrpfsTer13)
c.479dup (p.Cys160TrpfsTer?)
c.494dup (p.Cys165TrpfsTer13)
n.635dup
 gnomAD v4
16g.20348892_20348895dupCA718921480UMODc.407_410dup (p.Pro138MetfsTer13)
c.506_509dup (p.Pro171MetfsTer13)
c.554_557dup (p.Pro187MetfsTer13)
c.476_479dup (p.Pro161MetfsTer?)
c.491_494dup (p.Pro166MetfsTer13)
n.632_635dup
 dbSNP
16g.20348892A>CCA394986065UMODc.409T>G (p.Cys137Gly)
c.508T>G (p.Cys170Gly)
c.556T>G (p.Cys186Gly)
c.478T>G (p.Cys160Gly)
c.493T>G (p.Cys165Gly)
n.634T>G
16g.20348892A>GCA394986066UMODc.409T>C (p.Cys137Arg)
c.508T>C (p.Cys170Arg)
c.556T>C (p.Cys186Arg)
c.478T>C (p.Cys160Arg)
c.493T>C (p.Cys165Arg)
n.634T>C
16g.20348892A>TCA394986068UMODc.409T>A (p.Cys137Ser)
c.508T>A (p.Cys170Ser)
c.556T>A (p.Cys186Ser)
c.478T>A (p.Cys160Ser)
c.493T>A (p.Cys165Ser)
n.634T>A
16g.20348893T>ACA494097320UMODc.408A>T (p.Val136=)
c.507A>T (p.Val169=)
c.555A>T (p.Val185=)
c.477A>T (p.Val159=)
c.492A>T (p.Val164=)
n.633A>T
16g.20348893T>CCA494097321UMODc.408A>G (p.Val136=)
c.507A>G (p.Val169=)
c.555A>G (p.Val185=)
c.477A>G (p.Val159=)
c.492A>G (p.Val164=)
n.633A>G
16g.20348893T>GCA494097322UMODc.408A>C (p.Val136=)
c.507A>C (p.Val169=)
c.555A>C (p.Val185=)
c.477A>C (p.Val159=)
c.492A>C (p.Val164=)
n.633A>C
16g.20348894A>CCA394986073UMODc.407T>G (p.Val136Gly)
c.506T>G (p.Val169Gly)
c.554T>G (p.Val185Gly)
c.476T>G (p.Val159Gly)
c.491T>G (p.Val164Gly)
n.632T>G
16g.20348894A>GCA394986071UMODc.407T>C (p.Val136Ala)
c.506T>C (p.Val169Ala)
c.554T>C (p.Val185Ala)
c.476T>C (p.Val159Ala)
c.491T>C (p.Val164Ala)
n.632T>C
16g.20348894A>TCA394986069UMODc.407T>A (p.Val136Glu)
c.506T>A (p.Val169Glu)
c.554T>A (p.Val185Glu)
c.476T>A (p.Val159Glu)
c.491T>A (p.Val164Glu)
n.632T>A
16g.20348895C>ACA394986075UMODc.406G>T (p.Val136Leu)
c.505G>T (p.Val169Leu)
c.553G>T (p.Val185Leu)
c.475G>T (p.Val159Leu)
c.490G>T (p.Val164Leu)
n.631G>T
 gnomAD v4
16g.20348895C=CA2211943040UMODc.406G= (p.Val136=)
c.505G= (p.Val169=)
c.553G= (p.Val185=)
c.475G= (p.Val159=)
c.490G= (p.Val164=)
n.631G=
16g.20348895C>GCA394986077UMODc.406G>C (p.Val136Leu)
c.505G>C (p.Val169Leu)
c.553G>C (p.Val185Leu)
c.475G>C (p.Val159Leu)
c.490G>C (p.Val164Leu)
n.631G>C
 gnomAD v4
16g.20348895C>TCA394986076UMODc.406G>A (p.Val136Ile)
c.505G>A (p.Val169Ile)
c.553G>A (p.Val185Ile)
c.475G>A (p.Val159Ile)
c.490G>A (p.Val164Ile)
n.631G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348896G>ACA494097331UMODc.405C>T (p.Cys135=)
c.504C>T (p.Cys168=)
c.552C>T (p.Cys184=)
c.474C>T (p.Cys158=)
c.489C>T (p.Cys163=)
n.630C>T
 gnomAD v4 COSMIC COSMIC
16g.20348896G>CCA394986079UMODc.405C>G (p.Cys135Trp)
c.504C>G (p.Cys168Trp)
c.552C>G (p.Cys184Trp)
c.474C>G (p.Cys158Trp)
c.489C>G (p.Cys163Trp)
n.630C>G
16g.20348896G>TCA394986080UMODc.405C>A (p.Cys135Ter)
c.504C>A (p.Cys168Ter)
c.552C>A (p.Cys184Ter)
c.474C>A (p.Cys158Ter)
c.489C>A (p.Cys163Ter)
n.630C>A
 gnomAD v4
16g.20348898_20348906delCA2695222876UMODc.397_405del (p.Tyr133_Cys135del)
c.496_504del (p.Tyr166_Cys168del)
c.544_552del (p.Tyr182_Cys184del)
c.466_474del (p.Tyr156_Cys158del)
c.481_489del (p.Tyr161_Cys163del)
n.622_630del
16g.20348897C>ACA394986081UMODc.404G>T (p.Cys135Phe)
c.503G>T (p.Cys168Phe)
c.551G>T (p.Cys184Phe)
c.473G>T (p.Cys158Phe)
c.488G>T (p.Cys163Phe)
n.629G>T
16g.20348897C>GCA394986084UMODc.404G>C (p.Cys135Ser)
c.503G>C (p.Cys168Ser)
c.551G>C (p.Cys184Ser)
c.473G>C (p.Cys158Ser)
c.488G>C (p.Cys163Ser)
n.629G>C
16g.20348897C>TCA394986083UMODc.404G>A (p.Cys135Tyr)
c.503G>A (p.Cys168Tyr)
c.551G>A (p.Cys184Tyr)
c.473G>A (p.Cys158Tyr)
c.488G>A (p.Cys163Tyr)
n.629G>A
 gnomAD v4
16g.20348898A>CCA394986086UMODc.403T>G (p.Cys135Gly)
c.502T>G (p.Cys168Gly)
c.550T>G (p.Cys184Gly)
c.472T>G (p.Cys158Gly)
c.487T>G (p.Cys163Gly)
n.628T>G
16g.20348898A>GCA394986087UMODc.403T>C (p.Cys135Arg)
c.502T>C (p.Cys168Arg)
c.550T>C (p.Cys184Arg)
c.472T>C (p.Cys158Arg)
c.487T>C (p.Cys163Arg)
n.628T>C
 gnomAD v4
16g.20348898A>TCA394986088UMODc.403T>A (p.Cys135Ser)
c.502T>A (p.Cys168Ser)
c.550T>A (p.Cys184Ser)
c.472T>A (p.Cys158Ser)
c.487T>A (p.Cys163Ser)
n.628T>A
 gnomAD v4
16g.20348899C>ACA394986090UMODc.402G>T (p.Leu134Phe)
c.501G>T (p.Leu167Phe)
c.549G>T (p.Leu183Phe)
c.471G>T (p.Leu157Phe)
c.486G>T (p.Leu162Phe)
n.627G>T
 gnomAD v4
16g.20348899C>GCA394986092UMODc.402G>C (p.Leu134Phe)
c.501G>C (p.Leu167Phe)
c.549G>C (p.Leu183Phe)
c.471G>C (p.Leu157Phe)
c.486G>C (p.Leu162Phe)
n.627G>C
16g.20348899C>TCA494097341UMODc.402G>A (p.Leu134=)
c.501G>A (p.Leu167=)
c.549G>A (p.Leu183=)
c.471G>A (p.Leu157=)
c.486G>A (p.Leu162=)
n.627G>A
16g.20348900A>CCA394986094UMODc.401T>G (p.Leu134Trp)
c.500T>G (p.Leu167Trp)
c.548T>G (p.Leu183Trp)
c.470T>G (p.Leu157Trp)
c.485T>G (p.Leu162Trp)
n.626T>G
 ClinVar gnomAD v4
16g.20348900A>GCA394986095UMODc.401T>C (p.Leu134Ser)
c.500T>C (p.Leu167Ser)
c.548T>C (p.Leu183Ser)
c.470T>C (p.Leu157Ser)
c.485T>C (p.Leu162Ser)
n.626T>C
16g.20348900A>TCA394986096UMODc.401T>A (p.Leu134Ter)
c.500T>A (p.Leu167Ter)
c.548T>A (p.Leu183Ter)
c.470T>A (p.Leu157Ter)
c.485T>A (p.Leu162Ter)
n.626T>A
 gnomAD v4
16g.20348901A>CCA394986098UMODc.400T>G (p.Leu134Val)
c.499T>G (p.Leu167Val)
c.547T>G (p.Leu183Val)
c.469T>G (p.Leu157Val)
c.484T>G (p.Leu162Val)
n.625T>G
16g.20348901A>GCA494097348UMODc.400T>C (p.Leu134=)
c.499T>C (p.Leu167=)
c.547T>C (p.Leu183=)
c.469T>C (p.Leu157=)
c.484T>C (p.Leu162=)
n.625T>C
16g.20348901A>TCA394986099UMODc.400T>A (p.Leu134Met)
c.499T>A (p.Leu167Met)
c.547T>A (p.Leu183Met)
c.469T>A (p.Leu157Met)
c.484T>A (p.Leu162Met)
n.625T>A
 gnomAD v4
16g.20348901_20348902delinsAGCA2211943043UMODc.399_400delinsCT (p.Tyr133=)
c.498_499delinsCT (p.Tyr166=)
c.546_547delinsCT (p.Tyr182=)
c.468_469delinsCT (p.Tyr156=)
c.483_484delinsCT (p.Tyr161=)
n.624_625delinsCT
16g.20348902delCA2211943044UMODc.399del (p.Leu134CysfsTer?)
c.498del (p.Leu167CysfsTer?)
c.546del (p.Leu183CysfsTer?)
c.468del (p.Leu157CysfsTer?)
c.483del (p.Leu162CysfsTer?)
n.624del
 dbSNP gnomAD v4
16g.20348902G>ACA494097350UMODc.399C>T (p.Tyr133=)
c.498C>T (p.Tyr166=)
c.546C>T (p.Tyr182=)
c.468C>T (p.Tyr156=)
c.483C>T (p.Tyr161=)
n.624C>T
 dbSNP
16g.20348902G>CCA394986101UMODc.399C>G (p.Tyr133Ter)
c.498C>G (p.Tyr166Ter)
c.546C>G (p.Tyr182Ter)
c.468C>G (p.Tyr156Ter)
c.483C>G (p.Tyr161Ter)
n.624C>G
16g.20348902G=CA2211943047UMODc.399C= (p.Tyr133=)
c.498C= (p.Tyr166=)
c.546C= (p.Tyr182=)
c.468C= (p.Tyr156=)
c.483C= (p.Tyr161=)
n.624C=
16g.20348902G>TCA394986102UMODc.399C>A (p.Tyr133Ter)
c.498C>A (p.Tyr166Ter)
c.546C>A (p.Tyr182Ter)
c.468C>A (p.Tyr156Ter)
c.483C>A (p.Tyr161Ter)
n.624C>A
16g.20348903T>ACA394986104UMODc.398A>T (p.Tyr133Phe)
c.497A>T (p.Tyr166Phe)
c.545A>T (p.Tyr182Phe)
c.467A>T (p.Tyr156Phe)
c.482A>T (p.Tyr161Phe)
n.623A>T
 gnomAD v4
16g.20348903T>CCA279300046UMODc.398A>G (p.Tyr133Cys)
c.497A>G (p.Tyr166Cys)
c.545A>G (p.Tyr182Cys)
c.467A>G (p.Tyr156Cys)
c.482A>G (p.Tyr161Cys)
n.623A>G
 dbSNP gnomAD v4
16g.20348903T>GCA394986105UMODc.398A>C (p.Tyr133Ser)
c.497A>C (p.Tyr166Ser)
c.545A>C (p.Tyr182Ser)
c.467A>C (p.Tyr156Ser)
c.482A>C (p.Tyr161Ser)
n.623A>C
16g.20348903T=CA2211943056UMODc.398A= (p.Tyr133=)
c.497A= (p.Tyr166=)
c.545A= (p.Tyr182=)
c.467A= (p.Tyr156=)
c.482A= (p.Tyr161=)
n.623A=
16g.20348904A>CCA394986108UMODc.397T>G (p.Tyr133Asp)
c.496T>G (p.Tyr166Asp)
c.544T>G (p.Tyr182Asp)
c.466T>G (p.Tyr156Asp)
c.481T>G (p.Tyr161Asp)
n.622T>G
16g.20348904A>GCA394986109UMODc.397T>C (p.Tyr133His)
c.496T>C (p.Tyr166His)
c.544T>C (p.Tyr182His)
c.466T>C (p.Tyr156His)
c.481T>C (p.Tyr161His)
n.622T>C
 gnomAD v4
16g.20348904A>TCA394986113UMODc.397T>A (p.Tyr133Asn)
c.496T>A (p.Tyr166Asn)
c.544T>A (p.Tyr182Asn)
c.466T>A (p.Tyr156Asn)
c.481T>A (p.Tyr161Asn)
n.622T>A
16g.20348905G>ACA279300048UMODc.396C>T (p.Ser132=)
c.495C>T (p.Ser165=)
c.543C>T (p.Ser181=)
c.465C>T (p.Ser155=)
c.480C>T (p.Ser160=)
n.621C>T
 dbSNP gnomAD v4
16g.20348905G>CCA394986116UMODc.396C>G (p.Ser132Arg)
c.495C>G (p.Ser165Arg)
c.543C>G (p.Ser181Arg)
c.465C>G (p.Ser155Arg)
c.480C>G (p.Ser160Arg)
n.621C>G
16g.20348905G=CA2211943061UMODc.396C= (p.Ser132=)
c.495C= (p.Ser165=)
c.543C= (p.Ser181=)
c.465C= (p.Ser155=)
c.480C= (p.Ser160=)
n.621C=
16g.20348905G>TCA394986117UMODc.396C>A (p.Ser132Arg)
c.495C>A (p.Ser165Arg)
c.543C>A (p.Ser181Arg)
c.465C>A (p.Ser155Arg)
c.480C>A (p.Ser160Arg)
n.621C>A
 gnomAD v4
16g.20348906C>ACA394986119UMODc.395G>T (p.Ser132Ile)
c.494G>T (p.Ser165Ile)
c.542G>T (p.Ser181Ile)
c.464G>T (p.Ser155Ile)
c.479G>T (p.Ser160Ile)
n.620G>T
 gnomAD v4
16g.20348906C=CA2211943062UMODc.395G= (p.Ser132=)
c.494G= (p.Ser165=)
c.542G= (p.Ser181=)
c.464G= (p.Ser155=)
c.479G= (p.Ser160=)
n.620G=
16g.20348906C>GCA394986121UMODc.395G>C (p.Ser132Thr)
c.494G>C (p.Ser165Thr)
c.542G>C (p.Ser181Thr)
c.464G>C (p.Ser155Thr)
c.479G>C (p.Ser160Thr)
n.620G>C
16g.20348906C>TCA394986123UMODc.395G>A (p.Ser132Asn)
c.494G>A (p.Ser165Asn)
c.542G>A (p.Ser181Asn)
c.464G>A (p.Ser155Asn)
c.479G>A (p.Ser160Asn)
n.620G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348907T>ACA394986127UMODc.394A>T (p.Ser132Cys)
c.493A>T (p.Ser165Cys)
c.541A>T (p.Ser181Cys)
c.463A>T (p.Ser155Cys)
c.478A>T (p.Ser160Cys)
n.619A>T
16g.20348907T>CCA394986126UMODc.394A>G (p.Ser132Gly)
c.493A>G (p.Ser165Gly)
c.541A>G (p.Ser181Gly)
c.463A>G (p.Ser155Gly)
c.478A>G (p.Ser160Gly)
n.619A>G
 gnomAD v4
16g.20348907T>GCA394986124UMODc.394A>C (p.Ser132Arg)
c.493A>C (p.Ser165Arg)
c.541A>C (p.Ser181Arg)
c.463A>C (p.Ser155Arg)
c.478A>C (p.Ser160Arg)
n.619A>C
16g.20348908G>ACA279300052UMODc.393C>T (p.Gly131=)
c.492C>T (p.Gly164=)
c.540C>T (p.Gly180=)
c.462C>T (p.Gly154=)
c.477C>T (p.Gly159=)
n.618C>T
 dbSNP gnomAD v4
16g.20348908G>CCA494097374UMODc.393C>G (p.Gly131=)
c.492C>G (p.Gly164=)
c.540C>G (p.Gly180=)
c.462C>G (p.Gly154=)
c.477C>G (p.Gly159=)
n.618C>G
16g.20348908G=CA2211943065UMODc.393C= (p.Gly131=)
c.492C= (p.Gly164=)
c.540C= (p.Gly180=)
c.462C= (p.Gly154=)
c.477C= (p.Gly159=)
n.618C=
16g.20348908G>TCA494097368UMODc.393C>A (p.Gly131=)
c.492C>A (p.Gly164=)
c.540C>A (p.Gly180=)
c.462C>A (p.Gly154=)
c.477C>A (p.Gly159=)
n.618C>A
 gnomAD v4
16g.20348909C>ACA394986130UMODc.392G>T (p.Gly131Val)
c.491G>T (p.Gly164Val)
c.539G>T (p.Gly180Val)
c.461G>T (p.Gly154Val)
c.476G>T (p.Gly159Val)
n.617G>T
 gnomAD v4
16g.20348909C=CA2211943070UMODc.392G= (p.Gly131=)
c.491G= (p.Gly164=)
c.539G= (p.Gly180=)
c.461G= (p.Gly154=)
c.476G= (p.Gly159=)
n.617G=
16g.20348909C>GCA394986131UMODc.392G>C (p.Gly131Ala)
c.491G>C (p.Gly164Ala)
c.539G>C (p.Gly180Ala)
c.461G>C (p.Gly154Ala)
c.476G>C (p.Gly159Ala)
n.617G>C
16g.20348909C>TCA7939454UMODc.392G>A (p.Gly131Asp)
c.491G>A (p.Gly164Asp)
c.539G>A (p.Gly180Asp)
c.461G>A (p.Gly154Asp)
c.476G>A (p.Gly159Asp)
n.617G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348910C>ACA394986133UMODc.391G>T (p.Gly131Cys)
c.490G>T (p.Gly164Cys)
c.538G>T (p.Gly180Cys)
c.460G>T (p.Gly154Cys)
c.475G>T (p.Gly159Cys)
n.616G>T
 gnomAD v4
16g.20348910C>GCA394986134UMODc.391G>C (p.Gly131Arg)
c.490G>C (p.Gly164Arg)
c.538G>C (p.Gly180Arg)
c.460G>C (p.Gly154Arg)
c.475G>C (p.Gly159Arg)
n.616G>C
 gnomAD v4
16g.20348910C>TCA394986136UMODc.391G>A (p.Gly131Ser)
c.490G>A (p.Gly164Ser)
c.538G>A (p.Gly180Ser)
c.460G>A (p.Gly154Ser)
c.475G>A (p.Gly159Ser)
n.616G>A
 gnomAD v4
16g.20348911C>ACA494097382UMODc.390G>T (p.Val130=)
c.489G>T (p.Val163=)
c.537G>T (p.Val179=)
c.459G>T (p.Val153=)
c.474G>T (p.Val158=)
n.615G>T
 gnomAD v4
16g.20348911C>GCA494097383UMODc.390G>C (p.Val130=)
c.489G>C (p.Val163=)
c.537G>C (p.Val179=)
c.459G>C (p.Val153=)
c.474G>C (p.Val158=)
n.615G>C
16g.20348911C>TCA494097384UMODc.390G>A (p.Val130=)
c.489G>A (p.Val163=)
c.537G>A (p.Val179=)
c.459G>A (p.Val153=)
c.474G>A (p.Val158=)
n.615G>A
 gnomAD v4
16g.20348911_20348912insTCCA2550400247UMODc.390_391insAG (p.Gly131ArgfsTer?)
c.489_490insAG (p.Gly164ArgfsTer?)
c.537_538insAG (p.Gly180ArgfsTer?)
c.459_460insAG (p.Gly154ArgfsTer?)
c.474_475insAG (p.Gly159ArgfsTer?)
n.615_616insAG
16g.20348912A=CA2211943076UMODc.389T= (p.Val130=)
c.488T= (p.Val163=)
c.536T= (p.Val179=)
c.458T= (p.Val153=)
c.473T= (p.Val158=)
n.614T=
16g.20348912A>CCA394986139UMODc.389T>G (p.Val130Gly)
c.488T>G (p.Val163Gly)
c.536T>G (p.Val179Gly)
c.458T>G (p.Val153Gly)
c.473T>G (p.Val158Gly)
n.614T>G
16g.20348912A>GCA7939455UMODc.389T>C (p.Val130Ala)
c.488T>C (p.Val163Ala)
c.536T>C (p.Val179Ala)
c.458T>C (p.Val153Ala)
c.473T>C (p.Val158Ala)
n.614T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348912A>TCA394986141UMODc.389T>A (p.Val130Glu)
c.488T>A (p.Val163Glu)
c.536T>A (p.Val179Glu)
c.458T>A (p.Val153Glu)
c.473T>A (p.Val158Glu)
n.614T>A
16g.20348913C>ACA394986143UMODc.388G>T (p.Val130Leu)
c.487G>T (p.Val163Leu)
c.535G>T (p.Val179Leu)
c.457G>T (p.Val153Leu)
c.472G>T (p.Val158Leu)
n.613G>T
 gnomAD v4
16g.20348913C>GCA394986144UMODc.388G>C (p.Val130Leu)
c.487G>C (p.Val163Leu)
c.535G>C (p.Val179Leu)
c.457G>C (p.Val153Leu)
c.472G>C (p.Val158Leu)
n.613G>C
16g.20348913C>TCA394986145UMODc.388G>A (p.Val130Met)
c.487G>A (p.Val163Met)
c.535G>A (p.Val179Met)
c.457G>A (p.Val153Met)
c.472G>A (p.Val158Met)
n.613G>A
 gnomAD v4
16g.20348914C>ACA494097391UMODc.387G>T (p.Val129=)
c.486G>T (p.Val162=)
c.534G>T (p.Val178=)
c.456G>T (p.Val152=)
c.471G>T (p.Val157=)
n.612G>T
 gnomAD v4
16g.20348914C=CA2211943091UMODc.387G= (p.Val129=)
c.486G= (p.Val162=)
c.534G= (p.Val178=)
c.456G= (p.Val152=)
c.471G= (p.Val157=)
n.612G=
16g.20348914C>GCA494097393UMODc.387G>C (p.Val129=)
c.486G>C (p.Val162=)
c.534G>C (p.Val178=)
c.456G>C (p.Val152=)
c.471G>C (p.Val157=)
n.612G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348914C>TCA494097394UMODc.387G>A (p.Val129=)
c.486G>A (p.Val162=)
c.534G>A (p.Val178=)
c.456G>A (p.Val152=)
c.471G>A (p.Val157=)
n.612G>A
 gnomAD v4
16g.20348916_20348917delCA2565369314UMODc.386_387del (p.Val129GlyfsTer20)
c.485_486del (p.Val162GlyfsTer20)
c.533_534del (p.Val178GlyfsTer20)
c.455_456del (p.Val152GlyfsTer?)
c.470_471del (p.Val157GlyfsTer20)
n.611_612del
16g.20348915A=CA2211943094UMODc.386T= (p.Val129=)
c.485T= (p.Val162=)
c.533T= (p.Val178=)
c.455T= (p.Val152=)
c.470T= (p.Val157=)
n.611T=
16g.20348915A>CCA394986147UMODc.386T>G (p.Val129Gly)
c.485T>G (p.Val162Gly)
c.533T>G (p.Val178Gly)
c.455T>G (p.Val152Gly)
c.470T>G (p.Val157Gly)
n.611T>G
16g.20348915A>GCA394986151UMODc.386T>C (p.Val129Ala)
c.485T>C (p.Val162Ala)
c.533T>C (p.Val178Ala)
c.455T>C (p.Val152Ala)
c.470T>C (p.Val157Ala)
n.611T>C
 dbSNP gnomAD v3 gnomAD v4
16g.20348915A>TCA394986149UMODc.386T>A (p.Val129Glu)
c.485T>A (p.Val162Glu)
c.533T>A (p.Val178Glu)
c.455T>A (p.Val152Glu)
c.470T>A (p.Val157Glu)
n.611T>A
 gnomAD v4
16g.20348916C>ACA394986152UMODc.385G>T (p.Val129Leu)
c.484G>T (p.Val162Leu)
c.532G>T (p.Val178Leu)
c.454G>T (p.Val152Leu)
c.469G>T (p.Val157Leu)
n.610G>T
 gnomAD v4
16g.20348916C>GCA394986153UMODc.385G>C (p.Val129Leu)
c.484G>C (p.Val162Leu)
c.532G>C (p.Val178Leu)
c.454G>C (p.Val152Leu)
c.469G>C (p.Val157Leu)
n.610G>C
16g.20348916C>TCA394986154UMODc.385G>A (p.Val129Met)
c.484G>A (p.Val162Met)
c.532G>A (p.Val178Met)
c.454G>A (p.Val152Met)
c.469G>A (p.Val157Met)
n.610G>A
 gnomAD v4
16g.20348917A>CCA394986155UMODc.384T>G (p.Asn128Lys)
c.483T>G (p.Asn161Lys)
c.531T>G (p.Asn177Lys)
c.453T>G (p.Asn151Lys)
c.468T>G (p.Asn156Lys)
n.609T>G
16g.20348917A>GCA494097396UMODc.384T>C (p.Asn128=)
c.483T>C (p.Asn161=)
c.531T>C (p.Asn177=)
c.453T>C (p.Asn151=)
c.468T>C (p.Asn156=)
n.609T>C
 gnomAD v4
16g.20348917A>TCA394986157UMODc.384T>A (p.Asn128Lys)
c.483T>A (p.Asn161Lys)
c.531T>A (p.Asn177Lys)
c.453T>A (p.Asn151Lys)
c.468T>A (p.Asn156Lys)
n.609T>A
 gnomAD v4
16g.20348918T>ACA394986159UMODc.383A>T (p.Asn128Ile)
c.482A>T (p.Asn161Ile)
c.530A>T (p.Asn177Ile)
c.452A>T (p.Asn151Ile)
c.467A>T (p.Asn156Ile)
n.608A>T
16g.20348918T>CCA256248UMODc.383A>G (p.Asn128Ser)
c.482A>G (p.Asn161Ser)
c.530A>G (p.Asn177Ser)
c.452A>G (p.Asn151Ser)
c.467A>G (p.Asn156Ser)
n.608A>G
 ClinVar dbSNP gnomAD v4
16g.20348918T>GCA394986161UMODc.383A>C (p.Asn128Thr)
c.482A>C (p.Asn161Thr)
c.530A>C (p.Asn177Thr)
c.452A>C (p.Asn151Thr)
c.467A>C (p.Asn156Thr)
n.608A>C
16g.20348918T=CA2211943099UMODc.383A= (p.Asn128=)
c.482A= (p.Asn161=)
c.530A= (p.Asn177=)
c.452A= (p.Asn151=)
c.467A= (p.Asn156=)
n.608A=
16g.20348918_20348919insACA2573332479UMODc.382_383insT (p.Asn128IlefsTer22)
c.481_482insT (p.Asn161IlefsTer22)
c.529_530insT (p.Asn177IlefsTer22)
c.451_452insT (p.Asn151IlefsTer?)
c.466_467insT (p.Asn156IlefsTer22)
n.607_608insT
 ClinVar
16g.20348919T>ACA394986163UMODc.382A>T (p.Asn128Tyr)
c.481A>T (p.Asn161Tyr)
c.529A>T (p.Asn177Tyr)
c.451A>T (p.Asn151Tyr)
c.466A>T (p.Asn156Tyr)
n.607A>T
 dbSNP
16g.20348919T>CCA394986165UMODc.382A>G (p.Asn128Asp)
c.481A>G (p.Asn161Asp)
c.529A>G (p.Asn177Asp)
c.451A>G (p.Asn151Asp)
c.466A>G (p.Asn156Asp)
n.607A>G
16g.20348919T>GCA394986166UMODc.382A>C (p.Asn128His)
c.481A>C (p.Asn161His)
c.529A>C (p.Asn177His)
c.451A>C (p.Asn151His)
c.466A>C (p.Asn156His)
n.607A>C
16g.20348919T=CA2211943103UMODc.382A= (p.Asn128=)
c.481A= (p.Asn161=)
c.529A= (p.Asn177=)
c.451A= (p.Asn151=)
c.466A= (p.Asn156=)
n.607A=
16g.20348920G>ACA494097404UMODc.381C>T (p.Val127=)
c.480C>T (p.Val160=)
c.528C>T (p.Val176=)
c.450C>T (p.Val150=)
c.465C>T (p.Val155=)
n.606C>T
 gnomAD v4
16g.20348920G>CCA494097405UMODc.381C>G (p.Val127=)
c.480C>G (p.Val160=)
c.528C>G (p.Val176=)
c.450C>G (p.Val150=)
c.465C>G (p.Val155=)
n.606C>G
16g.20348920G>TCA494097407UMODc.381C>A (p.Val127=)
c.480C>A (p.Val160=)
c.528C>A (p.Val176=)
c.450C>A (p.Val150=)
c.465C>A (p.Val155=)
n.606C>A
 gnomAD v4
16g.20348921A>CCA394986169UMODc.380T>G (p.Val127Gly)
c.479T>G (p.Val160Gly)
c.527T>G (p.Val176Gly)
c.449T>G (p.Val150Gly)
c.464T>G (p.Val155Gly)
n.605T>G
16g.20348921A>GCA394986171UMODc.380T>C (p.Val127Ala)
c.479T>C (p.Val160Ala)
c.527T>C (p.Val176Ala)
c.449T>C (p.Val150Ala)
c.464T>C (p.Val155Ala)
n.605T>C
16g.20348921A>TCA394986168UMODc.380T>A (p.Val127Asp)
c.479T>A (p.Val160Asp)
c.527T>A (p.Val176Asp)
c.449T>A (p.Val150Asp)
c.464T>A (p.Val155Asp)
n.605T>A
 ClinVar gnomAD v4
16g.20348922C>ACA394986176UMODc.379G>T (p.Val127Phe)
c.478G>T (p.Val160Phe)
c.526G>T (p.Val176Phe)
c.448G>T (p.Val150Phe)
c.463G>T (p.Val155Phe)
n.604G>T
 gnomAD v4
16g.20348922C=CA2211943107UMODc.379G= (p.Val127=)
c.478G= (p.Val160=)
c.526G= (p.Val176=)
c.448G= (p.Val150=)
c.463G= (p.Val155=)
n.604G=
16g.20348922C>GCA394986173UMODc.379G>C (p.Val127Leu)
c.478G>C (p.Val160Leu)
c.526G>C (p.Val176Leu)
c.448G>C (p.Val150Leu)
c.463G>C (p.Val155Leu)
n.604G>C
 gnomAD v4
16g.20348922C>TCA394986174UMODc.379G>A (p.Val127Ile)
c.478G>A (p.Val160Ile)
c.526G>A (p.Val176Ile)
c.448G>A (p.Val150Ile)
c.463G>A (p.Val155Ile)
n.604G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348923A>CCA394986178UMODc.378T>G (p.Cys126Trp)
c.477T>G (p.Cys159Trp)
c.525T>G (p.Cys175Trp)
c.447T>G (p.Cys149Trp)
c.462T>G (p.Cys154Trp)
n.603T>G
16g.20348923A>GCA494097412UMODc.378T>C (p.Cys126=)
c.477T>C (p.Cys159=)
c.525T>C (p.Cys175=)
c.447T>C (p.Cys149=)
c.462T>C (p.Cys154=)
n.603T>C
 gnomAD v4
16g.20348923A>TCA394986179UMODc.378T>A (p.Cys126Ter)
c.477T>A (p.Cys159Ter)
c.525T>A (p.Cys175Ter)
c.447T>A (p.Cys149Ter)
c.462T>A (p.Cys154Ter)
n.603T>A
 gnomAD v4

Number of alleles fetched