Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.20348640_20348738delCA2695222874UMODc.563_661del (p.Glu188_Leu221delinsVal)
c.662_760del (p.Glu221_Leu254delinsVal)
c.710_808del (p.Glu237_Leu270delinsVal)
c.647_745del (p.Glu216_Leu249delinsVal)
n.788_886del
16g.20348652A=CA2211942356UMODc.649T= (p.Cys217=)
c.748T= (p.Cys250=)
c.796T= (p.Cys266=)
c.733T= (p.Cys245=)
n.874T=
16g.20348652A>CCA261112UMODc.649T>G (p.Cys217Gly)
c.748T>G (p.Cys250Gly)
c.796T>G (p.Cys266Gly)
c.733T>G (p.Cys245Gly)
n.874T>G
 ClinVar dbSNP
16g.20348652A>GCA256240UMODc.649T>C (p.Cys217Arg)
c.748T>C (p.Cys250Arg)
c.796T>C (p.Cys266Arg)
c.733T>C (p.Cys245Arg)
n.874T>C
 ClinVar dbSNP gnomAD v4
16g.20348652A>TCA394985213UMODc.649T>A (p.Cys217Ser)
c.748T>A (p.Cys250Ser)
c.796T>A (p.Cys266Ser)
c.733T>A (p.Cys245Ser)
n.874T>A
16g.20348653G>ACA279299751UMODc.648C>T (p.Thr216=)
c.747C>T (p.Thr249=)
c.795C>T (p.Thr265=)
c.732C>T (p.Thr244=)
n.873C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348653G>CCA494097386UMODc.648C>G (p.Thr216=)
c.747C>G (p.Thr249=)
c.795C>G (p.Thr265=)
c.732C>G (p.Thr244=)
n.873C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348653G=CA2211942365UMODc.648C= (p.Thr216=)
c.747C= (p.Thr249=)
c.795C= (p.Thr265=)
c.732C= (p.Thr244=)
n.873C=
16g.20348653G>TCA494097388UMODc.648C>A (p.Thr216=)
c.747C>A (p.Thr249=)
c.795C>A (p.Thr265=)
c.732C>A (p.Thr244=)
n.873C>A
 gnomAD v4
16g.20348654G>ACA394985216UMODc.647C>T (p.Thr216Ile)
c.746C>T (p.Thr249Ile)
c.794C>T (p.Thr265Ile)
c.731C>T (p.Thr244Ile)
n.872C>T
16g.20348654G>CCA394985215UMODc.647C>G (p.Thr216Ser)
c.746C>G (p.Thr249Ser)
c.794C>G (p.Thr265Ser)
c.731C>G (p.Thr244Ser)
n.872C>G
16g.20348654G=CA2211942369UMODc.647C= (p.Thr216=)
c.746C= (p.Thr249=)
c.794C= (p.Thr265=)
c.731C= (p.Thr244=)
n.872C=
16g.20348654G>TCA394985214UMODc.647C>A (p.Thr216Asn)
c.746C>A (p.Thr249Asn)
c.794C>A (p.Thr265Asn)
c.731C>A (p.Thr244Asn)
n.872C>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348655T>ACA394985218UMODc.646A>T (p.Thr216Ser)
c.745A>T (p.Thr249Ser)
c.793A>T (p.Thr265Ser)
c.730A>T (p.Thr244Ser)
n.871A>T
16g.20348655T>CCA394985221UMODc.646A>G (p.Thr216Ala)
c.745A>G (p.Thr249Ala)
c.793A>G (p.Thr265Ala)
c.730A>G (p.Thr244Ala)
n.871A>G
16g.20348655T>GCA394985220UMODc.646A>C (p.Thr216Pro)
c.745A>C (p.Thr249Pro)
c.793A>C (p.Thr265Pro)
c.730A>C (p.Thr244Pro)
n.871A>C
16g.20348656C>ACA394985223UMODc.645G>T (p.Glu215Asp)
c.744G>T (p.Glu248Asp)
c.792G>T (p.Glu264Asp)
c.729G>T (p.Glu243Asp)
n.870G>T
 gnomAD v4 COSMIC COSMIC
16g.20348656C=CA2211942371UMODc.645G= (p.Glu215=)
c.744G= (p.Glu248=)
c.792G= (p.Glu264=)
c.729G= (p.Glu243=)
n.870G=
16g.20348656C>GCA394985224UMODc.645G>C (p.Glu215Asp)
c.744G>C (p.Glu248Asp)
c.792G>C (p.Glu264Asp)
c.729G>C (p.Glu243Asp)
n.870G>C
16g.20348656C>TCA494097397UMODc.645G>A (p.Glu215=)
c.744G>A (p.Glu248=)
c.792G>A (p.Glu264=)
c.729G>A (p.Glu243=)
n.870G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348657T>ACA394985225UMODc.644A>T (p.Glu215Val)
c.743A>T (p.Glu248Val)
c.791A>T (p.Glu264Val)
c.728A>T (p.Glu243Val)
n.869A>T
16g.20348657T>CCA394985227UMODc.644A>G (p.Glu215Gly)
c.743A>G (p.Glu248Gly)
c.791A>G (p.Glu264Gly)
c.728A>G (p.Glu243Gly)
n.869A>G
 dbSNP gnomAD v4
16g.20348657T>GCA394985228UMODc.644A>C (p.Glu215Ala)
c.743A>C (p.Glu248Ala)
c.791A>C (p.Glu264Ala)
c.728A>C (p.Glu243Ala)
n.869A>C
16g.20348657T=CA2211942372UMODc.644A= (p.Glu215=)
c.743A= (p.Glu248=)
c.791A= (p.Glu264=)
c.728A= (p.Glu243=)
n.869A=
16g.20348658C>ACA394985230UMODc.643G>T (p.Glu215Ter)
c.742G>T (p.Glu248Ter)
c.790G>T (p.Glu264Ter)
c.727G>T (p.Glu243Ter)
n.868G>T
 gnomAD v4
16g.20348658C=CA2211942375UMODc.643G= (p.Glu215=)
c.742G= (p.Glu248=)
c.790G= (p.Glu264=)
c.727G= (p.Glu243=)
n.868G=
16g.20348658C>GCA394985231UMODc.643G>C (p.Glu215Gln)
c.742G>C (p.Glu248Gln)
c.790G>C (p.Glu264Gln)
c.727G>C (p.Glu243Gln)
n.868G>C
 dbSNP gnomAD v4
16g.20348658C>TCA394985232UMODc.643G>A (p.Glu215Lys)
c.742G>A (p.Glu248Lys)
c.790G>A (p.Glu264Lys)
c.727G>A (p.Glu243Lys)
n.868G>A
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348659G>ACA494097403UMODc.642C>T (p.Ala214=)
c.741C>T (p.Ala247=)
c.789C>T (p.Ala263=)
c.726C>T (p.Ala242=)
n.867C>T
 gnomAD v4
16g.20348659G>CCA7939424UMODc.642C>G (p.Ala214=)
c.741C>G (p.Ala247=)
c.789C>G (p.Ala263=)
c.726C>G (p.Ala242=)
n.867C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348659G=CA2211942379UMODc.642C= (p.Ala214=)
c.741C= (p.Ala247=)
c.789C= (p.Ala263=)
c.726C= (p.Ala242=)
n.867C=
16g.20348659G>TCA279299758UMODc.642C>A (p.Ala214=)
c.741C>A (p.Ala247=)
c.789C>A (p.Ala263=)
c.726C>A (p.Ala242=)
n.867C>A
 ClinVar dbSNP gnomAD v4
16g.20348660delCA2632115309UMODc.642del (p.Glu215ArgfsTer29)
c.741del (p.Glu248ArgfsTer29)
c.789del (p.Glu264ArgfsTer29)
c.726del (p.Glu243ArgfsTer29)
n.867del
 gnomAD v4
16g.20348660G>ACA394985235UMODc.641C>T (p.Ala214Val)
c.740C>T (p.Ala247Val)
c.788C>T (p.Ala263Val)
c.725C>T (p.Ala242Val)
n.866C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348660G>CCA394985236UMODc.641C>G (p.Ala214Gly)
c.740C>G (p.Ala247Gly)
c.788C>G (p.Ala263Gly)
c.725C>G (p.Ala242Gly)
n.866C>G
16g.20348660G=CA2211942382UMODc.641C= (p.Ala214=)
c.740C= (p.Ala247=)
c.788C= (p.Ala263=)
c.725C= (p.Ala242=)
n.866C=
16g.20348660G>TCA394985238UMODc.641C>A (p.Ala214Asp)
c.740C>A (p.Ala247Asp)
c.788C>A (p.Ala263Asp)
c.725C>A (p.Ala242Asp)
n.866C>A
 gnomAD v4
16g.20348661C>ACA394985239UMODc.640G>T (p.Ala214Ser)
c.739G>T (p.Ala247Ser)
c.787G>T (p.Ala263Ser)
c.724G>T (p.Ala242Ser)
n.865G>T
 gnomAD v4
16g.20348661C>GCA394985242UMODc.640G>C (p.Ala214Pro)
c.739G>C (p.Ala247Pro)
c.787G>C (p.Ala263Pro)
c.724G>C (p.Ala242Pro)
n.865G>C
16g.20348661C>TCA394985241UMODc.640G>A (p.Ala214Thr)
c.739G>A (p.Ala247Thr)
c.787G>A (p.Ala263Thr)
c.724G>A (p.Ala242Thr)
n.865G>A
 gnomAD v4
16g.20348662C>ACA394985244UMODc.639G>T (p.Met213Ile)
c.738G>T (p.Met246Ile)
c.786G>T (p.Met262Ile)
c.723G>T (p.Met241Ile)
n.864G>T
 gnomAD v4
16g.20348662C=CA2211942383UMODc.639G= (p.Met213=)
c.738G= (p.Met246=)
c.786G= (p.Met262=)
c.723G= (p.Met241=)
n.864G=
16g.20348662C>GCA394985246UMODc.639G>C (p.Met213Ile)
c.738G>C (p.Met246Ile)
c.786G>C (p.Met262Ile)
c.723G>C (p.Met241Ile)
n.864G>C
16g.20348662C>TCA279299762UMODc.639G>A (p.Met213Ile)
c.738G>A (p.Met246Ile)
c.786G>A (p.Met262Ile)
c.723G>A (p.Met241Ile)
n.864G>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348663A>CCA394985248UMODc.638T>G (p.Met213Arg)
c.737T>G (p.Met246Arg)
c.785T>G (p.Met262Arg)
c.722T>G (p.Met241Arg)
n.863T>G
16g.20348663A>GCA394985250UMODc.638T>C (p.Met213Thr)
c.737T>C (p.Met246Thr)
c.785T>C (p.Met262Thr)
c.722T>C (p.Met241Thr)
n.863T>C
16g.20348663A>TCA394985251UMODc.638T>A (p.Met213Lys)
c.737T>A (p.Met246Lys)
c.785T>A (p.Met262Lys)
c.722T>A (p.Met241Lys)
n.863T>A
 gnomAD v4
16g.20348664T>ACA394985253UMODc.637A>T (p.Met213Leu)
c.736A>T (p.Met246Leu)
c.784A>T (p.Met262Leu)
c.721A>T (p.Met241Leu)
n.862A>T
 gnomAD v4
16g.20348664T>CCA394985254UMODc.637A>G (p.Met213Val)
c.736A>G (p.Met246Val)
c.784A>G (p.Met262Val)
c.721A>G (p.Met241Val)
n.862A>G
 gnomAD v4
16g.20348664T>GCA7939425UMODc.637A>C (p.Met213Leu)
c.736A>C (p.Met246Leu)
c.784A>C (p.Met262Leu)
c.721A>C (p.Met241Leu)
n.862A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348664T=CA2211942385UMODc.637A= (p.Met213=)
c.736A= (p.Met246=)
c.784A= (p.Met262=)
c.721A= (p.Met241=)
n.862A=
16g.20348665G>ACA494097413UMODc.636C>T (p.Arg212=)
c.735C>T (p.Arg245=)
c.783C>T (p.Arg261=)
c.720C>T (p.Arg240=)
n.861C>T
16g.20348665G>CCA494097414UMODc.636C>G (p.Arg212=)
c.735C>G (p.Arg245=)
c.783C>G (p.Arg261=)
c.720C>G (p.Arg240=)
n.861C>G
16g.20348665G>TCA494097415UMODc.636C>A (p.Arg212=)
c.735C>A (p.Arg245=)
c.783C>A (p.Arg261=)
c.720C>A (p.Arg240=)
n.861C>A
 gnomAD v4
16g.20348669_20348670delCA2632115319UMODc.635_636del (p.Arg212HisfsTer?)
c.734_735del (p.Arg245HisfsTer?)
c.782_783del (p.Arg261HisfsTer?)
c.719_720del (p.Arg240HisfsTer?)
n.860_861del
 gnomAD v4
16g.20348666C>ACA7939426UMODc.635G>T (p.Arg212Leu)
c.734G>T (p.Arg245Leu)
c.782G>T (p.Arg261Leu)
c.719G>T (p.Arg240Leu)
n.860G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348666C=CA2211942387UMODc.635G= (p.Arg212=)
c.734G= (p.Arg245=)
c.782G= (p.Arg261=)
c.719G= (p.Arg240=)
n.860G=
16g.20348666C>GCA394985257UMODc.635G>C (p.Arg212Pro)
c.734G>C (p.Arg245Pro)
c.782G>C (p.Arg261Pro)
c.719G>C (p.Arg240Pro)
n.860G>C
 gnomAD v4
16g.20348666C>TCA394985256UMODc.635G>A (p.Arg212His)
c.734G>A (p.Arg245His)
c.782G>A (p.Arg261His)
c.719G>A (p.Arg240His)
n.860G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348667G>ACA7939427UMODc.634C>T (p.Arg212Cys)
c.733C>T (p.Arg245Cys)
c.781C>T (p.Arg261Cys)
c.718C>T (p.Arg240Cys)
n.859C>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
16g.20348667G>CCA394985258UMODc.634C>G (p.Arg212Gly)
c.733C>G (p.Arg245Gly)
c.781C>G (p.Arg261Gly)
c.718C>G (p.Arg240Gly)
n.859C>G
16g.20348667G=CA2211942389UMODc.634C= (p.Arg212=)
c.733C= (p.Arg245=)
c.781C= (p.Arg261=)
c.718C= (p.Arg240=)
n.859C=
16g.20348667G>TCA394985259UMODc.634C>A (p.Arg212Ser)
c.733C>A (p.Arg245Ser)
c.781C>A (p.Arg261Ser)
c.718C>A (p.Arg240Ser)
n.859C>A
 gnomAD v4
16g.20348668delCA2632115325UMODc.633del (p.Arg212AlafsTer?)
c.732del (p.Arg245AlafsTer?)
c.780del (p.Arg261AlafsTer?)
c.717del (p.Arg240AlafsTer?)
n.858del
 gnomAD v4
16g.20348668C>ACA494096840UMODc.633G>T (p.Ala211=)
c.732G>T (p.Ala244=)
c.780G>T (p.Ala260=)
c.717G>T (p.Ala239=)
n.858G>T
 gnomAD v4
16g.20348668C=CA2211942391UMODc.633G= (p.Ala211=)
c.732G= (p.Ala244=)
c.780G= (p.Ala260=)
c.717G= (p.Ala239=)
n.858G=
16g.20348668C>GCA494096841UMODc.633G>C (p.Ala211=)
c.732G>C (p.Ala244=)
c.780G>C (p.Ala260=)
c.717G>C (p.Ala239=)
n.858G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348668C>TCA494096842UMODc.633G>A (p.Ala211=)
c.732G>A (p.Ala244=)
c.780G>A (p.Ala260=)
c.717G>A (p.Ala239=)
n.858G>A
 gnomAD v4
16g.20348669G>ACA394985260UMODc.632C>T (p.Ala211Val)
c.731C>T (p.Ala244Val)
c.779C>T (p.Ala260Val)
c.716C>T (p.Ala239Val)
n.857C>T
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348669G>CCA394985261UMODc.632C>G (p.Ala211Gly)
c.731C>G (p.Ala244Gly)
c.779C>G (p.Ala260Gly)
c.716C>G (p.Ala239Gly)
n.857C>G
16g.20348669G=CA2211942393UMODc.632C= (p.Ala211=)
c.731C= (p.Ala244=)
c.779C= (p.Ala260=)
c.716C= (p.Ala239=)
n.857C=
16g.20348669G>TCA394985262UMODc.632C>A (p.Ala211Glu)
c.731C>A (p.Ala244Glu)
c.779C>A (p.Ala260Glu)
c.716C>A (p.Ala239Glu)
n.857C>A
 gnomAD v4
16g.20348670C>ACA394985263UMODc.631G>T (p.Ala211Ser)
c.730G>T (p.Ala244Ser)
c.778G>T (p.Ala260Ser)
c.715G>T (p.Ala239Ser)
n.856G>T
 gnomAD v4
16g.20348670C=CA2211942395UMODc.631G= (p.Ala211=)
c.730G= (p.Ala244=)
c.778G= (p.Ala260=)
c.715G= (p.Ala239=)
n.856G=
16g.20348670C>GCA394985264UMODc.631G>C (p.Ala211Pro)
c.730G>C (p.Ala244Pro)
c.778G>C (p.Ala260Pro)
c.715G>C (p.Ala239Pro)
n.856G>C
16g.20348670C>TCA279299776UMODc.631G>A (p.Ala211Thr)
c.730G>A (p.Ala244Thr)
c.778G>A (p.Ala260Thr)
c.715G>A (p.Ala239Thr)
n.856G>A
 dbSNP gnomAD v4
16g.20348671_20348676delCA2632115329UMODc.626_631del (p.Gly209_Gly210del)
c.725_730del (p.Gly242_Gly243del)
c.773_778del (p.Gly258_Gly259del)
c.710_715del (p.Gly237_Gly238del)
n.851_856del
 gnomAD v4
16g.20348671A>CCA494096846UMODc.630T>G (p.Gly210=)
c.729T>G (p.Gly243=)
c.777T>G (p.Gly259=)
c.714T>G (p.Gly238=)
n.855T>G
16g.20348671A>GCA494096845UMODc.630T>C (p.Gly210=)
c.729T>C (p.Gly243=)
c.777T>C (p.Gly259=)
c.714T>C (p.Gly238=)
n.855T>C
16g.20348671A>TCA494096844UMODc.630T>A (p.Gly210=)
c.729T>A (p.Gly243=)
c.777T>A (p.Gly259=)
c.714T>A (p.Gly238=)
n.855T>A
16g.20348672C>ACA394985266UMODc.629G>T (p.Gly210Val)
c.728G>T (p.Gly243Val)
c.776G>T (p.Gly259Val)
c.713G>T (p.Gly238Val)
n.854G>T
 gnomAD v4
16g.20348672C>GCA394985267UMODc.629G>C (p.Gly210Ala)
c.728G>C (p.Gly243Ala)
c.776G>C (p.Gly259Ala)
c.713G>C (p.Gly238Ala)
n.854G>C
16g.20348672C>TCA394985268UMODc.629G>A (p.Gly210Asp)
c.728G>A (p.Gly243Asp)
c.776G>A (p.Gly259Asp)
c.713G>A (p.Gly238Asp)
n.854G>A
 gnomAD v4
16g.20348673C>ACA394985271UMODc.628G>T (p.Gly210Cys)
c.727G>T (p.Gly243Cys)
c.775G>T (p.Gly259Cys)
c.712G>T (p.Gly238Cys)
n.853G>T
 gnomAD v4
16g.20348673C=CA2211942397UMODc.628G= (p.Gly210=)
c.727G= (p.Gly243=)
c.775G= (p.Gly259=)
c.712G= (p.Gly238=)
n.853G=
16g.20348673C>GCA394985273UMODc.628G>C (p.Gly210Arg)
c.727G>C (p.Gly243Arg)
c.775G>C (p.Gly259Arg)
c.712G>C (p.Gly238Arg)
n.853G>C
16g.20348673C>TCA394985270UMODc.628G>A (p.Gly210Ser)
c.727G>A (p.Gly243Ser)
c.775G>A (p.Gly259Ser)
c.712G>A (p.Gly238Ser)
n.853G>A
 ClinVar dbSNP gnomAD v4
16g.20348674G>ACA494096850UMODc.627C>T (p.Gly209=)
c.726C>T (p.Gly242=)
c.774C>T (p.Gly258=)
c.711C>T (p.Gly237=)
n.852C>T
 gnomAD v4 COSMIC COSMIC
16g.20348674G>CCA494096851UMODc.627C>G (p.Gly209=)
c.726C>G (p.Gly242=)
c.774C>G (p.Gly258=)
c.711C>G (p.Gly237=)
n.852C>G
16g.20348674G>TCA494096852UMODc.627C>A (p.Gly209=)
c.726C>A (p.Gly242=)
c.774C>A (p.Gly258=)
c.711C>A (p.Gly237=)
n.852C>A
 gnomAD v4
16g.20348675C>ACA394985274UMODc.626G>T (p.Gly209Val)
c.725G>T (p.Gly242Val)
c.773G>T (p.Gly258Val)
c.710G>T (p.Gly237Val)
n.851G>T
 ClinVar dbSNP gnomAD v4
16g.20348675C=CA2211942401UMODc.626G= (p.Gly209=)
c.725G= (p.Gly242=)
c.773G= (p.Gly258=)
c.710G= (p.Gly237=)
n.851G=
16g.20348675C>GCA394985276UMODc.626G>C (p.Gly209Ala)
c.725G>C (p.Gly242Ala)
c.773G>C (p.Gly258Ala)
c.710G>C (p.Gly237Ala)
n.851G>C
 dbSNP
16g.20348675C>TCA394985277UMODc.626G>A (p.Gly209Asp)
c.725G>A (p.Gly242Asp)
c.773G>A (p.Gly258Asp)
c.710G>A (p.Gly237Asp)
n.851G>A
 gnomAD v4
16g.20348677delCA2632115337UMODc.626del (p.Gly209AlafsTer?)
c.725del (p.Gly242AlafsTer?)
c.773del (p.Gly258AlafsTer?)
c.710del (p.Gly237AlafsTer?)
n.851del
 gnomAD v4
16g.20348676C>ACA394985279UMODc.625G>T (p.Gly209Cys)
c.724G>T (p.Gly242Cys)
c.772G>T (p.Gly258Cys)
c.709G>T (p.Gly237Cys)
n.850G>T
 gnomAD v4
16g.20348676C>GCA394985280UMODc.625G>C (p.Gly209Arg)
c.724G>C (p.Gly242Arg)
c.772G>C (p.Gly258Arg)
c.709G>C (p.Gly237Arg)
n.850G>C
16g.20348676C>TCA394985282UMODc.625G>A (p.Gly209Ser)
c.724G>A (p.Gly242Ser)
c.772G>A (p.Gly258Ser)
c.709G>A (p.Gly237Ser)
n.850G>A
 gnomAD v4
16g.20348677C>ACA394985284UMODc.624G>T (p.Gln208His)
c.723G>T (p.Gln241His)
c.771G>T (p.Gln257His)
c.708G>T (p.Gln236His)
n.849G>T
 gnomAD v4
16g.20348677C>GCA394985285UMODc.624G>C (p.Gln208His)
c.723G>C (p.Gln241His)
c.771G>C (p.Gln257His)
c.708G>C (p.Gln236His)
n.849G>C
16g.20348677C>TCA494096854UMODc.624G>A (p.Gln208=)
c.723G>A (p.Gln241=)
c.771G>A (p.Gln257=)
c.708G>A (p.Gln236=)
n.849G>A
 gnomAD v4
16g.20348678_20348681dupCA2632115342UMODc.621_624dup (p.Gly209ProfsTer?)
c.720_723dup (p.Gly242ProfsTer?)
c.768_771dup (p.Gly258ProfsTer?)
c.705_708dup (p.Gly237ProfsTer?)
n.846_849dup
 gnomAD v4
16g.20348678T>ACA394985287UMODc.623A>T (p.Gln208Leu)
c.722A>T (p.Gln241Leu)
c.770A>T (p.Gln257Leu)
c.707A>T (p.Gln236Leu)
n.848A>T
 gnomAD v4
16g.20348678T>CCA394985289UMODc.623A>G (p.Gln208Arg)
c.722A>G (p.Gln241Arg)
c.770A>G (p.Gln257Arg)
c.707A>G (p.Gln236Arg)
n.848A>G
 dbSNP gnomAD v4
16g.20348678T>GCA394985290UMODc.623A>C (p.Gln208Pro)
c.722A>C (p.Gln241Pro)
c.770A>C (p.Gln257Pro)
c.707A>C (p.Gln236Pro)
n.848A>C
16g.20348679G>ACA394985292UMODc.622C>T (p.Gln208Ter)
c.721C>T (p.Gln241Ter)
c.769C>T (p.Gln257Ter)
c.706C>T (p.Gln236Ter)
n.847C>T
 gnomAD v4
16g.20348679G>CCA394985293UMODc.622C>G (p.Gln208Glu)
c.721C>G (p.Gln241Glu)
c.769C>G (p.Gln257Glu)
c.706C>G (p.Gln236Glu)
n.847C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348679G=CA2211942402UMODc.622C= (p.Gln208=)
c.721C= (p.Gln241=)
c.769C= (p.Gln257=)
c.706C= (p.Gln236=)
n.847C=
16g.20348679G>TCA394985294UMODc.622C>A (p.Gln208Lys)
c.721C>A (p.Gln241Lys)
c.769C>A (p.Gln257Lys)
c.706C>A (p.Gln236Lys)
n.847C>A
 gnomAD v4
16g.20348680G>ACA494096861UMODc.621C>T (p.Gly207=)
c.720C>T (p.Gly240=)
c.768C>T (p.Gly256=)
c.705C>T (p.Gly235=)
n.846C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348680G>CCA494096862UMODc.621C>G (p.Gly207=)
c.720C>G (p.Gly240=)
c.768C>G (p.Gly256=)
c.705C>G (p.Gly235=)
n.846C>G
16g.20348680G=CA2211942403UMODc.621C= (p.Gly207=)
c.720C= (p.Gly240=)
c.768C= (p.Gly256=)
c.705C= (p.Gly235=)
n.846C=
16g.20348680G>TCA494096863UMODc.621C>A (p.Gly207=)
c.720C>A (p.Gly240=)
c.768C>A (p.Gly256=)
c.705C>A (p.Gly235=)
n.846C>A
 gnomAD v4
16g.20348681C>ACA394985297UMODc.620G>T (p.Gly207Val)
c.719G>T (p.Gly240Val)
c.767G>T (p.Gly256Val)
c.704G>T (p.Gly235Val)
n.845G>T
 gnomAD v4
16g.20348681C=CA2211942405UMODc.620G= (p.Gly207=)
c.719G= (p.Gly240=)
c.767G= (p.Gly256=)
c.704G= (p.Gly235=)
n.845G=
16g.20348681C>GCA394985299UMODc.620G>C (p.Gly207Ala)
c.719G>C (p.Gly240Ala)
c.767G>C (p.Gly256Ala)
c.704G>C (p.Gly235Ala)
n.845G>C
16g.20348681C>TCA394985296UMODc.620G>A (p.Gly207Asp)
c.719G>A (p.Gly240Asp)
c.767G>A (p.Gly256Asp)
c.704G>A (p.Gly235Asp)
n.845G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348682C>ACA394985304UMODc.619G>T (p.Gly207Cys)
c.718G>T (p.Gly240Cys)
c.766G>T (p.Gly256Cys)
c.703G>T (p.Gly235Cys)
n.844G>T
 gnomAD v4
16g.20348682C=CA2211942407UMODc.619G= (p.Gly207=)
c.718G= (p.Gly240=)
c.766G= (p.Gly256=)
c.703G= (p.Gly235=)
n.844G=
16g.20348682C>GCA394985303UMODc.619G>C (p.Gly207Arg)
c.718G>C (p.Gly240Arg)
c.766G>C (p.Gly256Arg)
c.703G>C (p.Gly235Arg)
n.844G>C
16g.20348682C>TCA394985306UMODc.619G>A (p.Gly207Ser)
c.718G>A (p.Gly240Ser)
c.766G>A (p.Gly256Ser)
c.703G>A (p.Gly235Ser)
n.844G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348683C>ACA494096870UMODc.618G>T (p.Val206=)
c.717G>T (p.Val239=)
c.765G>T (p.Val255=)
c.702G>T (p.Val234=)
n.843G>T
 gnomAD v4
16g.20348683C=CA2211942409UMODc.618G= (p.Val206=)
c.717G= (p.Val239=)
c.765G= (p.Val255=)
c.702G= (p.Val234=)
n.843G=
16g.20348683C>GCA494096872UMODc.618G>C (p.Val206=)
c.717G>C (p.Val239=)
c.765G>C (p.Val255=)
c.702G>C (p.Val234=)
n.843G>C
16g.20348683C>TCA7939428UMODc.618G>A (p.Val206=)
c.717G>A (p.Val239=)
c.765G>A (p.Val255=)
c.702G>A (p.Val234=)
n.843G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348684A=CA2211942411UMODc.617T= (p.Val206=)
c.716T= (p.Val239=)
c.764T= (p.Val255=)
c.701T= (p.Val234=)
n.842T=
16g.20348684A>CCA394985309UMODc.617T>G (p.Val206Gly)
c.716T>G (p.Val239Gly)
c.764T>G (p.Val255Gly)
c.701T>G (p.Val234Gly)
n.842T>G
16g.20348684A>GCA279299782UMODc.617T>C (p.Val206Ala)
c.716T>C (p.Val239Ala)
c.764T>C (p.Val255Ala)
c.701T>C (p.Val234Ala)
n.842T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348684A>TCA394985311UMODc.617T>A (p.Val206Glu)
c.716T>A (p.Val239Glu)
c.764T>A (p.Val255Glu)
c.701T>A (p.Val234Glu)
n.842T>A
16g.20348685C>ACA394985312UMODc.616G>T (p.Val206Leu)
c.715G>T (p.Val239Leu)
c.763G>T (p.Val255Leu)
c.700G>T (p.Val234Leu)
n.841G>T
 gnomAD v4
16g.20348685C>GCA394985313UMODc.616G>C (p.Val206Leu)
c.715G>C (p.Val239Leu)
c.763G>C (p.Val255Leu)
c.700G>C (p.Val234Leu)
n.841G>C
16g.20348685C>TCA394985315UMODc.616G>A (p.Val206Met)
c.715G>A (p.Val239Met)
c.763G>A (p.Val255Met)
c.700G>A (p.Val234Met)
n.841G>A
 gnomAD v4
16g.20348686G>ACA494096877UMODc.615C>T (p.Phe205=)
c.714C>T (p.Phe238=)
c.762C>T (p.Phe254=)
c.699C>T (p.Phe233=)
n.840C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.20348686G>CCA394985316UMODc.615C>G (p.Phe205Leu)
c.714C>G (p.Phe238Leu)
c.762C>G (p.Phe254Leu)
c.699C>G (p.Phe233Leu)
n.840C>G
16g.20348686G=CA2211942413UMODc.615C= (p.Phe205=)
c.714C= (p.Phe238=)
c.762C= (p.Phe254=)
c.699C= (p.Phe233=)
n.840C=
16g.20348686G>TCA279299789UMODc.615C>A (p.Phe205Leu)
c.714C>A (p.Phe238Leu)
c.762C>A (p.Phe254Leu)
c.699C>A (p.Phe233Leu)
n.840C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348687A>CCA394985319UMODc.614T>G (p.Phe205Cys)
c.713T>G (p.Phe238Cys)
c.761T>G (p.Phe254Cys)
c.698T>G (p.Phe233Cys)
n.839T>G
16g.20348687A>GCA394985320UMODc.614T>C (p.Phe205Ser)
c.713T>C (p.Phe238Ser)
c.761T>C (p.Phe254Ser)
c.698T>C (p.Phe233Ser)
n.839T>C
16g.20348687A>TCA394985321UMODc.614T>A (p.Phe205Tyr)
c.713T>A (p.Phe238Tyr)
c.761T>A (p.Phe254Tyr)
c.698T>A (p.Phe233Tyr)
n.839T>A
16g.20348688A>CCA394985324UMODc.613T>G (p.Phe205Val)
c.712T>G (p.Phe238Val)
c.760T>G (p.Phe254Val)
c.697T>G (p.Phe233Val)
n.838T>G
16g.20348688A>GCA394985322UMODc.613T>C (p.Phe205Leu)
c.712T>C (p.Phe238Leu)
c.760T>C (p.Phe254Leu)
c.697T>C (p.Phe233Leu)
n.838T>C
16g.20348688A>TCA394985323UMODc.613T>A (p.Phe205Ile)
c.712T>A (p.Phe238Ile)
c.760T>A (p.Phe254Ile)
c.697T>A (p.Phe233Ile)
n.838T>A
16g.20348689G>ACA494096884UMODc.612C>T (p.Arg204=)
c.711C>T (p.Arg237=)
c.759C>T (p.Arg253=)
c.696C>T (p.Arg232=)
n.837C>T
 gnomAD v4
16g.20348689G>CCA494096887UMODc.612C>G (p.Arg204=)
c.711C>G (p.Arg237=)
c.759C>G (p.Arg253=)
c.696C>G (p.Arg232=)
n.837C>G
16g.20348689G>TCA494096885UMODc.612C>A (p.Arg204=)
c.711C>A (p.Arg237=)
c.759C>A (p.Arg253=)
c.696C>A (p.Arg232=)
n.837C>A
 gnomAD v4
16g.20348690C>ACA394985325UMODc.611G>T (p.Arg204Leu)
c.710G>T (p.Arg237Leu)
c.758G>T (p.Arg253Leu)
c.695G>T (p.Arg232Leu)
n.836G>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348690C=CA2211942417UMODc.611G= (p.Arg204=)
c.710G= (p.Arg237=)
c.758G= (p.Arg253=)
c.695G= (p.Arg232=)
n.836G=
16g.20348690C>GCA394985326UMODc.611G>C (p.Arg204Pro)
c.710G>C (p.Arg237Pro)
c.758G>C (p.Arg253Pro)
c.695G>C (p.Arg232Pro)
n.836G>C
 ClinVar
16g.20348690C>TCA394985327UMODc.611G>A (p.Arg204His)
c.710G>A (p.Arg237His)
c.758G>A (p.Arg253His)
c.695G>A (p.Arg232His)
n.836G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348691G>ACA394985328UMODc.610C>T (p.Arg204Cys)
c.709C>T (p.Arg237Cys)
c.757C>T (p.Arg253Cys)
c.694C>T (p.Arg232Cys)
n.835C>T
 ClinVar gnomAD v4
16g.20348691G>CCA394985329UMODc.610C>G (p.Arg204Gly)
c.709C>G (p.Arg237Gly)
c.757C>G (p.Arg253Gly)
c.694C>G (p.Arg232Gly)
n.835C>G
 ClinVar dbSNP
16g.20348691G=CA2211942418UMODc.610C= (p.Arg204=)
c.709C= (p.Arg237=)
c.757C= (p.Arg253=)
c.694C= (p.Arg232=)
n.835C=
16g.20348691G>TCA394985330UMODc.610C>A (p.Arg204Ser)
c.709C>A (p.Arg237Ser)
c.757C>A (p.Arg253Ser)
c.694C>A (p.Arg232Ser)
n.835C>A
 gnomAD v4
16g.20348692delCA2806163731UMODc.610del (p.Arg204AlafsTer?)
c.709del (p.Arg237AlafsTer?)
c.757del (p.Arg253AlafsTer?)
c.694del (p.Arg232AlafsTer?)
n.835del
16g.20348691_20348693dupCA2575933284UMODc.608_610dup (p.Tyr203_Arg204insHis)
c.707_709dup (p.Tyr236_Arg237insHis)
c.755_757dup (p.Tyr252_Arg253insHis)
c.692_694dup (p.Tyr231_Arg232insHis)
n.833_835dup
16g.20348692G>ACA494096891UMODc.609C>T (p.Tyr203=)
c.708C>T (p.Tyr236=)
c.756C>T (p.Tyr252=)
c.693C>T (p.Tyr231=)
n.834C>T
 dbSNP gnomAD v4
16g.20348692G>CCA394985331UMODc.609C>G (p.Tyr203Ter)
c.708C>G (p.Tyr236Ter)
c.756C>G (p.Tyr252Ter)
c.693C>G (p.Tyr231Ter)
n.834C>G
16g.20348692G=CA2211942423UMODc.609C= (p.Tyr203=)
c.708C= (p.Tyr236=)
c.756C= (p.Tyr252=)
c.693C= (p.Tyr231=)
n.834C=
16g.20348692G>TCA394985332UMODc.609C>A (p.Tyr203Ter)
c.708C>A (p.Tyr236Ter)
c.756C>A (p.Tyr252Ter)
c.693C>A (p.Tyr231Ter)
n.834C>A
 gnomAD v2 gnomAD v4
16g.20348692_20348693delinsGTCA2211942422UMODc.608_609delinsAC (p.Tyr203=)
c.707_708delinsAC (p.Tyr236=)
c.755_756delinsAC (p.Tyr252=)
c.692_693delinsAC (p.Tyr231=)
n.833_834delinsAC
16g.20348693delCA621658526UMODc.608del (p.Tyr203SerfsTer?)
c.707del (p.Tyr236SerfsTer?)
c.755del (p.Tyr252SerfsTer?)
c.692del (p.Tyr231SerfsTer?)
n.833del
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348693T>ACA394985333UMODc.608A>T (p.Tyr203Phe)
c.707A>T (p.Tyr236Phe)
c.755A>T (p.Tyr252Phe)
c.692A>T (p.Tyr231Phe)
n.833A>T
16g.20348693T>CCA394985334UMODc.608A>G (p.Tyr203Cys)
c.707A>G (p.Tyr236Cys)
c.755A>G (p.Tyr252Cys)
c.692A>G (p.Tyr231Cys)
n.833A>G
 gnomAD v4
16g.20348693T>GCA394985335UMODc.608A>C (p.Tyr203Ser)
c.707A>C (p.Tyr236Ser)
c.755A>C (p.Tyr252Ser)
c.692A>C (p.Tyr231Ser)
n.833A>C
16g.20348693T=CA2211942427UMODc.608A= (p.Tyr203=)
c.707A= (p.Tyr236=)
c.755A= (p.Tyr252=)
c.692A= (p.Tyr231=)
n.833A=
16g.20348694A>CCA394985338UMODc.607T>G (p.Tyr203Asp)
c.706T>G (p.Tyr236Asp)
c.754T>G (p.Tyr252Asp)
c.691T>G (p.Tyr231Asp)
n.832T>G
16g.20348694A>GCA394985337UMODc.607T>C (p.Tyr203His)
c.706T>C (p.Tyr236His)
c.754T>C (p.Tyr252His)
c.691T>C (p.Tyr231His)
n.832T>C
 gnomAD v4
16g.20348694A>TCA394985336UMODc.607T>A (p.Tyr203Asn)
c.706T>A (p.Tyr236Asn)
c.754T>A (p.Tyr252Asn)
c.691T>A (p.Tyr231Asn)
n.832T>A
16g.20348694dupCA7939429UMODc.607dup (p.Tyr203LeufsTer?)
c.706dup (p.Tyr236LeufsTer?)
c.754dup (p.Tyr252LeufsTer?)
c.691dup (p.Tyr231LeufsTer?)
n.832dup
 dbSNP ExAC gnomAD v4
16g.20348695C>ACA394985339UMODc.606G>T (p.Trp202Cys)
c.705G>T (p.Trp235Cys)
c.753G>T (p.Trp251Cys)
c.690G>T (p.Trp230Cys)
n.831G>T
 gnomAD v4
16g.20348695C=CA2211942433UMODc.606G= (p.Trp202=)
c.705G= (p.Trp235=)
c.753G= (p.Trp251=)
c.690G= (p.Trp230=)
n.831G=
16g.20348695C>GCA394985340UMODc.606G>C (p.Trp202Cys)
c.705G>C (p.Trp235Cys)
c.753G>C (p.Trp251Cys)
c.690G>C (p.Trp230Cys)
n.831G>C
 gnomAD v4
16g.20348695C>TCA394985341UMODc.606G>A (p.Trp202Ter)
c.705G>A (p.Trp235Ter)
c.753G>A (p.Trp251Ter)
c.690G>A (p.Trp230Ter)
n.831G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348696C>ACA394985342UMODc.605G>T (p.Trp202Leu)
c.704G>T (p.Trp235Leu)
c.752G>T (p.Trp251Leu)
c.689G>T (p.Trp230Leu)
n.830G>T
 gnomAD v4
16g.20348696C=CA2211942436UMODc.605G= (p.Trp202=)
c.704G= (p.Trp235=)
c.752G= (p.Trp251=)
c.689G= (p.Trp230=)
n.830G=
16g.20348696C>GCA394985343UMODc.605G>C (p.Trp202Ser)
c.704G>C (p.Trp235Ser)
c.752G>C (p.Trp251Ser)
c.689G>C (p.Trp230Ser)
n.830G>C
16g.20348696C>TCA394985344UMODc.605G>A (p.Trp202Ter)
c.704G>A (p.Trp235Ter)
c.752G>A (p.Trp251Ter)
c.689G>A (p.Trp230Ter)
n.830G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348697A>CCA394985345UMODc.604T>G (p.Trp202Gly)
c.703T>G (p.Trp235Gly)
c.751T>G (p.Trp251Gly)
c.688T>G (p.Trp230Gly)
n.829T>G
16g.20348697A>GCA394985346UMODc.604T>C (p.Trp202Arg)
c.703T>C (p.Trp235Arg)
c.751T>C (p.Trp251Arg)
c.688T>C (p.Trp230Arg)
n.829T>C
 ClinVar gnomAD v4
16g.20348697A>TCA394985347UMODc.604T>A (p.Trp202Arg)
c.703T>A (p.Trp235Arg)
c.751T>A (p.Trp251Arg)
c.688T>A (p.Trp230Arg)
n.829T>A
16g.20348698G>ACA494096894UMODc.603C>T (p.Gly201=)
c.702C>T (p.Gly234=)
c.750C>T (p.Gly250=)
c.687C>T (p.Gly229=)
n.828C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348698G>CCA494096896UMODc.603C>G (p.Gly201=)
c.702C>G (p.Gly234=)
c.750C>G (p.Gly250=)
c.687C>G (p.Gly229=)
n.828C>G
16g.20348698G=CA2211942440UMODc.603C= (p.Gly201=)
c.702C= (p.Gly234=)
c.750C= (p.Gly250=)
c.687C= (p.Gly229=)
n.828C=
16g.20348698G>TCA494096897UMODc.603C>A (p.Gly201=)
c.702C>A (p.Gly234=)
c.750C>A (p.Gly250=)
c.687C>A (p.Gly229=)
n.828C>A
 gnomAD v4
16g.20348699C>ACA394985348UMODc.602G>T (p.Gly201Val)
c.701G>T (p.Gly234Val)
c.749G>T (p.Gly250Val)
c.686G>T (p.Gly229Val)
n.827G>T
 gnomAD v4
16g.20348699C>GCA394985349UMODc.602G>C (p.Gly201Ala)
c.701G>C (p.Gly234Ala)
c.749G>C (p.Gly250Ala)
c.686G>C (p.Gly229Ala)
n.827G>C
16g.20348699C>TCA394985350UMODc.602G>A (p.Gly201Asp)
c.701G>A (p.Gly234Asp)
c.749G>A (p.Gly250Asp)
c.686G>A (p.Gly229Asp)
n.827G>A
 gnomAD v4
16g.20348700C>ACA394985352UMODc.601G>T (p.Gly201Cys)
c.700G>T (p.Gly234Cys)
c.748G>T (p.Gly250Cys)
c.685G>T (p.Gly229Cys)
n.826G>T
 gnomAD v4
16g.20348700C>GCA394985353UMODc.601G>C (p.Gly201Arg)
c.700G>C (p.Gly234Arg)
c.748G>C (p.Gly250Arg)
c.685G>C (p.Gly229Arg)
n.826G>C
16g.20348700C>TCA394985351UMODc.601G>A (p.Gly201Ser)
c.700G>A (p.Gly234Ser)
c.748G>A (p.Gly250Ser)
c.685G>A (p.Gly229Ser)
n.826G>A
 gnomAD v4
16g.20348701G>ACA494096899UMODc.600C>T (p.Arg200=)
c.699C>T (p.Arg233=)
c.747C>T (p.Arg249=)
c.684C>T (p.Arg228=)
n.825C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348701G>CCA494096900UMODc.600C>G (p.Arg200=)
c.699C>G (p.Arg233=)
c.747C>G (p.Arg249=)
c.684C>G (p.Arg228=)
n.825C>G
 gnomAD v4
16g.20348701G=CA2211942441UMODc.600C= (p.Arg200=)
c.699C= (p.Arg233=)
c.747C= (p.Arg249=)
c.684C= (p.Arg228=)
n.825C=
16g.20348701G>TCA494096901UMODc.600C>A (p.Arg200=)
c.699C>A (p.Arg233=)
c.747C>A (p.Arg249=)
c.684C>A (p.Arg228=)
n.825C>A
 gnomAD v4
16g.20348702C>ACA394985354UMODc.599G>T (p.Arg200Leu)
c.698G>T (p.Arg233Leu)
c.746G>T (p.Arg249Leu)
c.683G>T (p.Arg228Leu)
n.824G>T
 gnomAD v4
16g.20348702C=CA2211942443UMODc.599G= (p.Arg200=)
c.698G= (p.Arg233=)
c.746G= (p.Arg249=)
c.683G= (p.Arg228=)
n.824G=
16g.20348702C>GCA394985355UMODc.599G>C (p.Arg200Pro)
c.698G>C (p.Arg233Pro)
c.746G>C (p.Arg249Pro)
c.683G>C (p.Arg228Pro)
n.824G>C
16g.20348702C>TCA279299797UMODc.599G>A (p.Arg200His)
c.698G>A (p.Arg233His)
c.746G>A (p.Arg249His)
c.683G>A (p.Arg228His)
n.824G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348703G>ACA394985356UMODc.598C>T (p.Arg200Cys)
c.697C>T (p.Arg233Cys)
c.745C>T (p.Arg249Cys)
c.682C>T (p.Arg228Cys)
n.823C>T
 gnomAD v4
16g.20348703G>CCA394985357UMODc.598C>G (p.Arg200Gly)
c.697C>G (p.Arg233Gly)
c.745C>G (p.Arg249Gly)
c.682C>G (p.Arg228Gly)
n.823C>G
 gnomAD v4
16g.20348703G=CA2211942446UMODc.598C= (p.Arg200=)
c.697C= (p.Arg233=)
c.745C= (p.Arg249=)
c.682C= (p.Arg228=)
n.823C=
16g.20348703G>TCA394985358UMODc.598C>A (p.Arg200Ser)
c.697C>A (p.Arg233Ser)
c.745C>A (p.Arg249Ser)
c.682C>A (p.Arg228Ser)
n.823C>A
 dbSNP gnomAD v4
16g.20348704C>ACA494096903UMODc.597G>T (p.Leu199=)
c.696G>T (p.Leu232=)
c.744G>T (p.Leu248=)
c.681G>T (p.Leu227=)
n.822G>T
 gnomAD v4
16g.20348704C>GCA494096904UMODc.597G>C (p.Leu199=)
c.696G>C (p.Leu232=)
c.744G>C (p.Leu248=)
c.681G>C (p.Leu227=)
n.822G>C
 gnomAD v4
16g.20348704C>TCA494096905UMODc.597G>A (p.Leu199=)
c.696G>A (p.Leu232=)
c.744G>A (p.Leu248=)
c.681G>A (p.Leu227=)
n.822G>A
 gnomAD v4
16g.20348705A>CCA394985359UMODc.596T>G (p.Leu199Arg)
c.695T>G (p.Leu232Arg)
c.743T>G (p.Leu248Arg)
c.680T>G (p.Leu227Arg)
n.821T>G
16g.20348705A>GCA394985361UMODc.596T>C (p.Leu199Pro)
c.695T>C (p.Leu232Pro)
c.743T>C (p.Leu248Pro)
c.680T>C (p.Leu227Pro)
n.821T>C
 gnomAD v4
16g.20348705A>TCA394985360UMODc.596T>A (p.Leu199Gln)
c.695T>A (p.Leu232Gln)
c.743T>A (p.Leu248Gln)
c.680T>A (p.Leu227Gln)
n.821T>A
 gnomAD v4
16g.20348706G>ACA494096906UMODc.595C>T (p.Leu199=)
c.694C>T (p.Leu232=)
c.742C>T (p.Leu248=)
c.679C>T (p.Leu227=)
n.820C>T
 dbSNP gnomAD v4
16g.20348706G>CCA394985363UMODc.595C>G (p.Leu199Val)
c.694C>G (p.Leu232Val)
c.742C>G (p.Leu248Val)
c.679C>G (p.Leu227Val)
n.820C>G
16g.20348706G=CA2211942450UMODc.595C= (p.Leu199=)
c.694C= (p.Leu232=)
c.742C= (p.Leu248=)
c.679C= (p.Leu227=)
n.820C=
16g.20348706G>TCA394985364UMODc.595C>A (p.Leu199Met)
c.694C>A (p.Leu232Met)
c.742C>A (p.Leu248Met)
c.679C>A (p.Leu227Met)
n.820C>A
 gnomAD v4
16g.20348707G>ACA494096912UMODc.594C>T (p.Asp198=)
c.693C>T (p.Asp231=)
c.741C>T (p.Asp247=)
c.678C>T (p.Asp226=)
n.819C>T
 gnomAD v4
16g.20348707G>CCA394985365UMODc.594C>G (p.Asp198Glu)
c.693C>G (p.Asp231Glu)
c.741C>G (p.Asp247Glu)
c.678C>G (p.Asp226Glu)
n.819C>G
 gnomAD v4
16g.20348707G>TCA394985366UMODc.594C>A (p.Asp198Glu)
c.693C>A (p.Asp231Glu)
c.741C>A (p.Asp247Glu)
c.678C>A (p.Asp226Glu)
n.819C>A
 gnomAD v4
16g.20348708T>ACA394985369UMODc.593A>T (p.Asp198Val)
c.692A>T (p.Asp231Val)
c.740A>T (p.Asp247Val)
c.677A>T (p.Asp226Val)
n.818A>T
16g.20348708T>CCA394985368UMODc.593A>G (p.Asp198Gly)
c.692A>G (p.Asp231Gly)
c.740A>G (p.Asp247Gly)
c.677A>G (p.Asp226Gly)
n.818A>G
 dbSNP gnomAD v3 gnomAD v4
16g.20348708T>GCA394985367UMODc.593A>C (p.Asp198Ala)
c.692A>C (p.Asp231Ala)
c.740A>C (p.Asp247Ala)
c.677A>C (p.Asp226Ala)
n.818A>C
16g.20348708T=CA2211942455UMODc.593A= (p.Asp198=)
c.692A= (p.Asp231=)
c.740A= (p.Asp247=)
c.677A= (p.Asp226=)
n.818A=
16g.20348709C>ACA394985370UMODc.592G>T (p.Asp198Tyr)
c.691G>T (p.Asp231Tyr)
c.739G>T (p.Asp247Tyr)
c.676G>T (p.Asp226Tyr)
n.817G>T
 gnomAD v4
16g.20348709C=CA2211942459UMODc.592G= (p.Asp198=)
c.691G= (p.Asp231=)
c.739G= (p.Asp247=)
c.676G= (p.Asp226=)
n.817G=
16g.20348709C>GCA394985371UMODc.592G>C (p.Asp198His)
c.691G>C (p.Asp231His)
c.739G>C (p.Asp247His)
c.676G>C (p.Asp226His)
n.817G>C
16g.20348709C>TCA279299804UMODc.592G>A (p.Asp198Asn)
c.691G>A (p.Asp231Asn)
c.739G>A (p.Asp247Asn)
c.676G>A (p.Asp226Asn)
n.817G>A
 dbSNP gnomAD v4
16g.20348710C>ACA7939430UMODc.591G>T (p.Thr197=)
c.690G>T (p.Thr230=)
c.738G>T (p.Thr246=)
c.675G>T (p.Thr225=)
n.816G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348710C=CA2211942464UMODc.591G= (p.Thr197=)
c.690G= (p.Thr230=)
c.738G= (p.Thr246=)
c.675G= (p.Thr225=)
n.816G=
16g.20348710C>GCA494096920UMODc.591G>C (p.Thr197=)
c.690G>C (p.Thr230=)
c.738G>C (p.Thr246=)
c.675G>C (p.Thr225=)
n.816G>C
16g.20348710C>TCA494096918UMODc.591G>A (p.Thr197=)
c.690G>A (p.Thr230=)
c.738G>A (p.Thr246=)
c.675G>A (p.Thr225=)
n.816G>A
 gnomAD v4 COSMIC COSMIC
16g.20348711G>ACA7939431UMODc.590C>T (p.Thr197Met)
c.689C>T (p.Thr230Met)
c.737C>T (p.Thr246Met)
c.674C>T (p.Thr225Met)
n.815C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348711G>CCA394985372UMODc.590C>G (p.Thr197Arg)
c.689C>G (p.Thr230Arg)
c.737C>G (p.Thr246Arg)
c.674C>G (p.Thr225Arg)
n.815C>G
16g.20348711G=CA2211942468UMODc.590C= (p.Thr197=)
c.689C= (p.Thr230=)
c.737C= (p.Thr246=)
c.674C= (p.Thr225=)
n.815C=
16g.20348711G>TCA394985373UMODc.590C>A (p.Thr197Lys)
c.689C>A (p.Thr230Lys)
c.737C>A (p.Thr246Lys)
c.674C>A (p.Thr225Lys)
n.815C>A
 gnomAD v4
16g.20348712T>ACA394985374UMODc.589A>T (p.Thr197Ser)
c.688A>T (p.Thr230Ser)
c.736A>T (p.Thr246Ser)
c.673A>T (p.Thr225Ser)
n.814A>T
 gnomAD v4
16g.20348712T>CCA394985375UMODc.589A>G (p.Thr197Ala)
c.688A>G (p.Thr230Ala)
c.736A>G (p.Thr246Ala)
c.673A>G (p.Thr225Ala)
n.814A>G
 gnomAD v4
16g.20348712T>GCA394985376UMODc.589A>C (p.Thr197Pro)
c.688A>C (p.Thr230Pro)
c.736A>C (p.Thr246Pro)
c.673A>C (p.Thr225Pro)
n.814A>C
16g.20348713G>ACA494096927UMODc.588C>T (p.Asp196=)
c.687C>T (p.Asp229=)
c.735C>T (p.Asp245=)
c.672C>T (p.Asp224=)
n.813C>T
 gnomAD v4
16g.20348713G>CCA394985377UMODc.588C>G (p.Asp196Glu)
c.687C>G (p.Asp229Glu)
c.735C>G (p.Asp245Glu)
c.672C>G (p.Asp224Glu)
n.813C>G
 ClinVar
16g.20348713G>TCA394985378UMODc.588C>A (p.Asp196Glu)
c.687C>A (p.Asp229Glu)
c.735C>A (p.Asp245Glu)
c.672C>A (p.Asp224Glu)
n.813C>A
 gnomAD v4
16g.20348714T>ACA394985379UMODc.587A>T (p.Asp196Val)
c.686A>T (p.Asp229Val)
c.734A>T (p.Asp245Val)
c.671A>T (p.Asp224Val)
n.812A>T
16g.20348714T>CCA16609397UMODc.587A>G (p.Asp196Gly)
c.686A>G (p.Asp229Gly)
c.734A>G (p.Asp245Gly)
c.671A>G (p.Asp224Gly)
n.812A>G
 ClinVar dbSNP
16g.20348714T>GCA394985380UMODc.587A>C (p.Asp196Ala)
c.686A>C (p.Asp229Ala)
c.734A>C (p.Asp245Ala)
c.671A>C (p.Asp224Ala)
n.812A>C
16g.20348714T=CA2211942476UMODc.587A= (p.Asp196=)
c.686A= (p.Asp229=)
c.734A= (p.Asp245=)
c.671A= (p.Asp224=)
n.812A=
16g.20348715C>ACA394985386UMODc.586G>T (p.Asp196Tyr)
c.685G>T (p.Asp229Tyr)
c.733G>T (p.Asp245Tyr)
c.670G>T (p.Asp224Tyr)
n.811G>T
16g.20348715C=CA2211942485UMODc.586G= (p.Asp196=)
c.685G= (p.Asp229=)
c.733G= (p.Asp245=)
c.670G= (p.Asp224=)
n.811G=
16g.20348715C>GCA394985381UMODc.586G>C (p.Asp196His)
c.685G>C (p.Asp229His)
c.733G>C (p.Asp245His)
c.670G>C (p.Asp224His)
n.811G>C
16g.20348715C>TCA394985384UMODc.586G>A (p.Asp196Asn)
c.685G>A (p.Asp229Asn)
c.733G>A (p.Asp245Asn)
c.670G>A (p.Asp224Asn)
n.811G>A
 ClinVar dbSNP gnomAD v4
16g.20348715_20348716delinsTACA2695222875UMODc.585_586delinsTA (p.Asp196Asn)
c.684_685delinsTA (p.Asp229Asn)
c.732_733delinsTA (p.Asp245Asn)
c.669_670delinsTA (p.Asp224Asn)
n.810_811delinsTA
16g.20348716G>ACA494096932UMODc.585C>T (p.Cys195=)
c.684C>T (p.Cys228=)
c.732C>T (p.Cys244=)
c.669C>T (p.Cys223=)
n.810C>T
 gnomAD v4
16g.20348716G>CCA394985387UMODc.585C>G (p.Cys195Trp)
c.684C>G (p.Cys228Trp)
c.732C>G (p.Cys244Trp)
c.669C>G (p.Cys223Trp)
n.810C>G
16g.20348716G>TCA394985389UMODc.585C>A (p.Cys195Ter)
c.684C>A (p.Cys228Ter)
c.732C>A (p.Cys244Ter)
c.669C>A (p.Cys223Ter)
n.810C>A
 gnomAD v4
16g.20348717C>ACA394985391UMODc.584G>T (p.Cys195Phe)
c.683G>T (p.Cys228Phe)
c.731G>T (p.Cys244Phe)
c.668G>T (p.Cys223Phe)
n.809G>T
 gnomAD v4
16g.20348717C=CA2211942489UMODc.584G= (p.Cys195=)
c.683G= (p.Cys228=)
c.731G= (p.Cys244=)
c.668G= (p.Cys223=)
n.809G=
16g.20348717C>GCA394985392UMODc.584G>C (p.Cys195Ser)
c.683G>C (p.Cys228Ser)
c.731G>C (p.Cys244Ser)
c.668G>C (p.Cys223Ser)
n.809G>C
 dbSNP
16g.20348717C>TCA394985394UMODc.584G>A (p.Cys195Tyr)
c.683G>A (p.Cys228Tyr)
c.731G>A (p.Cys244Tyr)
c.668G>A (p.Cys223Tyr)
n.809G>A
 gnomAD v4
16g.20348718A>CCA394985395UMODc.583T>G (p.Cys195Gly)
c.682T>G (p.Cys228Gly)
c.730T>G (p.Cys244Gly)
c.667T>G (p.Cys223Gly)
n.808T>G
16g.20348718A>GCA394985396UMODc.583T>C (p.Cys195Arg)
c.682T>C (p.Cys228Arg)
c.730T>C (p.Cys244Arg)
c.667T>C (p.Cys223Arg)
n.808T>C
 gnomAD v4
16g.20348718A>TCA394985398UMODc.583T>A (p.Cys195Ser)
c.682T>A (p.Cys228Ser)
c.730T>A (p.Cys244Ser)
c.667T>A (p.Cys223Ser)
n.808T>A
16g.20348719G>ACA494096940UMODc.582C>T (p.Ala194=)
c.681C>T (p.Ala227=)
c.729C>T (p.Ala243=)
c.666C>T (p.Ala222=)
n.807C>T
 dbSNP gnomAD v2 gnomAD v4
16g.20348719G>CCA494096942UMODc.582C>G (p.Ala194=)
c.681C>G (p.Ala227=)
c.729C>G (p.Ala243=)
c.666C>G (p.Ala222=)
n.807C>G
 gnomAD v4
16g.20348719G=CA2211942495UMODc.582C= (p.Ala194=)
c.681C= (p.Ala227=)
c.729C= (p.Ala243=)
c.666C= (p.Ala222=)
n.807C=
16g.20348719G>TCA494096939UMODc.582C>A (p.Ala194=)
c.681C>A (p.Ala227=)
c.729C>A (p.Ala243=)
c.666C>A (p.Ala222=)
n.807C>A
 gnomAD v4
16g.20348720G>ACA394985400UMODc.581C>T (p.Ala194Val)
c.680C>T (p.Ala227Val)
c.728C>T (p.Ala243Val)
c.665C>T (p.Ala222Val)
n.806C>T
 dbSNP gnomAD v3 gnomAD v4
16g.20348720G>CCA394985402UMODc.581C>G (p.Ala194Gly)
c.680C>G (p.Ala227Gly)
c.728C>G (p.Ala243Gly)
c.665C>G (p.Ala222Gly)
n.806C>G
 gnomAD v4
16g.20348720G=CA2211942499UMODc.581C= (p.Ala194=)
c.680C= (p.Ala227=)
c.728C= (p.Ala243=)
c.665C= (p.Ala222=)
n.806C=
16g.20348720G>TCA394985403UMODc.581C>A (p.Ala194Asp)
c.680C>A (p.Ala227Asp)
c.728C>A (p.Ala243Asp)
c.665C>A (p.Ala222Asp)
n.806C>A
 gnomAD v4
16g.20348723_20348748delCA2632115397UMODc.556_581del (p.Ser186LeufsTer?)
c.655_680del (p.Ser219LeufsTer?)
c.703_728del (p.Ser235LeufsTer?)
c.640_665del (p.Ser214LeufsTer?)
n.781_806del
 gnomAD v4
16g.20348721C>ACA394985410UMODc.580G>T (p.Ala194Ser)
c.679G>T (p.Ala227Ser)
c.727G>T (p.Ala243Ser)
c.664G>T (p.Ala222Ser)
n.805G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348721C=CA2211942502UMODc.580G= (p.Ala194=)
c.679G= (p.Ala227=)
c.727G= (p.Ala243=)
c.664G= (p.Ala222=)
n.805G=
16g.20348721C>GCA394985408UMODc.580G>C (p.Ala194Pro)
c.679G>C (p.Ala227Pro)
c.727G>C (p.Ala243Pro)
c.664G>C (p.Ala222Pro)
n.805G>C
16g.20348721C>TCA394985406UMODc.580G>A (p.Ala194Thr)
c.679G>A (p.Ala227Thr)
c.727G>A (p.Ala243Thr)
c.664G>A (p.Ala222Thr)
n.805G>A
 gnomAD v4
16g.20348722G>ACA494096949UMODc.579C>T (p.Tyr193=)
c.678C>T (p.Tyr226=)
c.726C>T (p.Tyr242=)
c.663C>T (p.Tyr221=)
n.804C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348722G>CCA394985411UMODc.579C>G (p.Tyr193Ter)
c.678C>G (p.Tyr226Ter)
c.726C>G (p.Tyr242Ter)
c.663C>G (p.Tyr221Ter)
n.804C>G
 dbSNP
16g.20348722G=CA2211942509UMODc.579C= (p.Tyr193=)
c.678C= (p.Tyr226=)
c.726C= (p.Tyr242=)
c.663C= (p.Tyr221=)
n.804C=
16g.20348722G>TCA394985412UMODc.579C>A (p.Tyr193Ter)
c.678C>A (p.Tyr226Ter)
c.726C>A (p.Tyr242Ter)
c.663C>A (p.Tyr221Ter)
n.804C>A
 gnomAD v4
16g.20348723T>ACA394985413UMODc.578A>T (p.Tyr193Phe)
c.677A>T (p.Tyr226Phe)
c.725A>T (p.Tyr242Phe)
c.662A>T (p.Tyr221Phe)
n.803A>T
16g.20348723T>CCA394985414UMODc.578A>G (p.Tyr193Cys)
c.677A>G (p.Tyr226Cys)
c.725A>G (p.Tyr242Cys)
c.662A>G (p.Tyr221Cys)
n.803A>G
 gnomAD v4
16g.20348723T>GCA394985416UMODc.578A>C (p.Tyr193Ser)
c.677A>C (p.Tyr226Ser)
c.725A>C (p.Tyr242Ser)
c.662A>C (p.Tyr221Ser)
n.803A>C
16g.20348724A=CA2211942514UMODc.577T= (p.Tyr193=)
c.676T= (p.Tyr226=)
c.724T= (p.Tyr242=)
c.661T= (p.Tyr221=)
n.802T=
16g.20348724A>CCA394985417UMODc.577T>G (p.Tyr193Asp)
c.676T>G (p.Tyr226Asp)
c.724T>G (p.Tyr242Asp)
c.661T>G (p.Tyr221Asp)
n.802T>G
16g.20348724A>GCA279299836UMODc.577T>C (p.Tyr193His)
c.676T>C (p.Tyr226His)
c.724T>C (p.Tyr242His)
c.661T>C (p.Tyr221His)
n.802T>C
 dbSNP gnomAD v3 gnomAD v4
16g.20348724A>TCA394985419UMODc.577T>A (p.Tyr193Asn)
c.676T>A (p.Tyr226Asn)
c.724T>A (p.Tyr242Asn)
c.661T>A (p.Tyr221Asn)
n.802T>A
16g.20348725G>ACA494096954UMODc.576C>T (p.Gly192=)
c.675C>T (p.Gly225=)
c.723C>T (p.Gly241=)
c.660C>T (p.Gly220=)
n.801C>T
 dbSNP gnomAD v4
16g.20348725G>CCA494096955UMODc.576C>G (p.Gly192=)
c.675C>G (p.Gly225=)
c.723C>G (p.Gly241=)
c.660C>G (p.Gly220=)
n.801C>G
16g.20348725G=CA2211942515UMODc.576C= (p.Gly192=)
c.675C= (p.Gly225=)
c.723C= (p.Gly241=)
c.660C= (p.Gly220=)
n.801C=
16g.20348725G>TCA494096956UMODc.576C>A (p.Gly192=)
c.675C>A (p.Gly225=)
c.723C>A (p.Gly241=)
c.660C>A (p.Gly220=)
n.801C>A
 gnomAD v4
16g.20348726C>ACA394985420UMODc.575G>T (p.Gly192Val)
c.674G>T (p.Gly225Val)
c.722G>T (p.Gly241Val)
c.659G>T (p.Gly220Val)
n.800G>T
 gnomAD v4
16g.20348726C>GCA394985422UMODc.575G>C (p.Gly192Ala)
c.674G>C (p.Gly225Ala)
c.722G>C (p.Gly241Ala)
c.659G>C (p.Gly220Ala)
n.800G>C
16g.20348726C>TCA394985423UMODc.575G>A (p.Gly192Asp)
c.674G>A (p.Gly225Asp)
c.722G>A (p.Gly241Asp)
c.659G>A (p.Gly220Asp)
n.800G>A
 gnomAD v4
16g.20348727C>ACA394985424UMODc.574G>T (p.Gly192Cys)
c.673G>T (p.Gly225Cys)
c.721G>T (p.Gly241Cys)
c.658G>T (p.Gly220Cys)
n.799G>T
 dbSNP gnomAD v4
16g.20348727C>GCA394985425UMODc.574G>C (p.Gly192Arg)
c.673G>C (p.Gly225Arg)
c.721G>C (p.Gly241Arg)
c.658G>C (p.Gly220Arg)
n.799G>C
16g.20348727C>TCA394985426UMODc.574G>A (p.Gly192Ser)
c.673G>A (p.Gly225Ser)
c.721G>A (p.Gly241Ser)
c.658G>A (p.Gly220Ser)
n.799G>A
 gnomAD v4
16g.20348728C>ACA394985427UMODc.573G>T (p.Glu191Asp)
c.672G>T (p.Glu224Asp)
c.720G>T (p.Glu240Asp)
c.657G>T (p.Glu219Asp)
n.798G>T
 gnomAD v4
16g.20348728C=CA2211942518UMODc.573G= (p.Glu191=)
c.672G= (p.Glu224=)
c.720G= (p.Glu240=)
c.657G= (p.Glu219=)
n.798G=
16g.20348728C>GCA279299842UMODc.573G>C (p.Glu191Asp)
c.672G>C (p.Glu224Asp)
c.720G>C (p.Glu240Asp)
c.657G>C (p.Glu219Asp)
n.798G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348728C>TCA494096966UMODc.573G>A (p.Glu191=)
c.672G>A (p.Glu224=)
c.720G>A (p.Glu240=)
c.657G>A (p.Glu219=)
n.798G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348729T>ACA394985428UMODc.572A>T (p.Glu191Val)
c.671A>T (p.Glu224Val)
c.719A>T (p.Glu240Val)
c.656A>T (p.Glu219Val)
n.797A>T
 gnomAD v4
16g.20348729T>CCA394985429UMODc.572A>G (p.Glu191Gly)
c.671A>G (p.Glu224Gly)
c.719A>G (p.Glu240Gly)
c.656A>G (p.Glu219Gly)
n.797A>G
 gnomAD v4 COSMIC COSMIC
16g.20348729T>GCA394985430UMODc.572A>C (p.Glu191Ala)
c.671A>C (p.Glu224Ala)
c.719A>C (p.Glu240Ala)
c.656A>C (p.Glu219Ala)
n.797A>C
16g.20348729_20348730delinsTCCA2211942522UMODc.571_572delinsGA (p.Glu191=)
c.670_671delinsGA (p.Glu224=)
c.718_719delinsGA (p.Glu240=)
c.655_656delinsGA (p.Glu219=)
n.796_797delinsGA
16g.20348730C>ACA394985431UMODc.571G>T (p.Glu191Ter)
c.670G>T (p.Glu224Ter)
c.718G>T (p.Glu240Ter)
c.655G>T (p.Glu219Ter)
n.796G>T
 gnomAD v4
16g.20348730C>GCA394985432UMODc.571G>C (p.Glu191Gln)
c.670G>C (p.Glu224Gln)
c.718G>C (p.Glu240Gln)
c.655G>C (p.Glu219Gln)
n.796G>C
16g.20348730C>TCA394985433UMODc.571G>A (p.Glu191Lys)
c.670G>A (p.Glu224Lys)
c.718G>A (p.Glu240Lys)
c.655G>A (p.Glu219Lys)
n.796G>A
 gnomAD v4
16g.20348733delCA2211942524UMODc.571del (p.Glu191ArgfsTer?)
c.670del (p.Glu224ArgfsTer?)
c.718del (p.Glu240ArgfsTer?)
c.655del (p.Glu219ArgfsTer?)
n.796del
 dbSNP gnomAD v4
16g.20348731C>ACA494096969UMODc.570G>T (p.Gly190=)
c.669G>T (p.Gly223=)
c.717G>T (p.Gly239=)
c.654G>T (p.Gly218=)
n.795G>T
 gnomAD v4
16g.20348731C=CA2211942526UMODc.570G= (p.Gly190=)
c.669G= (p.Gly223=)
c.717G= (p.Gly239=)
c.654G= (p.Gly218=)
n.795G=
16g.20348731C>GCA494096971UMODc.570G>C (p.Gly190=)
c.669G>C (p.Gly223=)
c.717G>C (p.Gly239=)
c.654G>C (p.Gly218=)
n.795G>C
 gnomAD v4
16g.20348731C>TCA494096974UMODc.570G>A (p.Gly190=)
c.669G>A (p.Gly223=)
c.717G>A (p.Gly239=)
c.654G>A (p.Gly218=)
n.795G>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348732C>ACA394985434UMODc.569G>T (p.Gly190Val)
c.668G>T (p.Gly223Val)
c.716G>T (p.Gly239Val)
c.653G>T (p.Gly218Val)
n.794G>T
 gnomAD v4
16g.20348732C=CA2211942532UMODc.569G= (p.Gly190=)
c.668G= (p.Gly223=)
c.716G= (p.Gly239=)
c.653G= (p.Gly218=)
n.794G=
16g.20348732C>GCA394985435UMODc.569G>C (p.Gly190Ala)
c.668G>C (p.Gly223Ala)
c.716G>C (p.Gly239Ala)
c.653G>C (p.Gly218Ala)
n.794G>C
 gnomAD v4
16g.20348732C>TCA279299845UMODc.569G>A (p.Gly190Glu)
c.668G>A (p.Gly223Glu)
c.716G>A (p.Gly239Glu)
c.653G>A (p.Gly218Glu)
n.794G>A
 dbSNP gnomAD v4 COSMIC COSMIC
16g.20348733C>ACA394985436UMODc.568G>T (p.Gly190Trp)
c.667G>T (p.Gly223Trp)
c.715G>T (p.Gly239Trp)
c.652G>T (p.Gly218Trp)
n.793G>T
 gnomAD v4
16g.20348733C=CA2211942537UMODc.568G= (p.Gly190=)
c.667G= (p.Gly223=)
c.715G= (p.Gly239=)
c.652G= (p.Gly218=)
n.793G=
16g.20348733C>GCA394985437UMODc.568G>C (p.Gly190Arg)
c.667G>C (p.Gly223Arg)
c.715G>C (p.Gly239Arg)
c.652G>C (p.Gly218Arg)
n.793G>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348733C>TCA279299864UMODc.568G>A (p.Gly190Arg)
c.667G>A (p.Gly223Arg)
c.715G>A (p.Gly239Arg)
c.652G>A (p.Gly218Arg)
n.793G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348734G>ACA216156UMODc.567C>T (p.Tyr189=)
c.666C>T (p.Tyr222=)
c.714C>T (p.Tyr238=)
c.651C>T (p.Tyr217=)
n.792C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.20348734G>CCA394985442UMODc.567C>G (p.Tyr189Ter)
c.666C>G (p.Tyr222Ter)
c.714C>G (p.Tyr238Ter)
c.651C>G (p.Tyr217Ter)
n.792C>G
 dbSNP gnomAD v2 gnomAD v4
16g.20348734G=CA2211942545UMODc.567C= (p.Tyr189=)
c.666C= (p.Tyr222=)
c.714C= (p.Tyr238=)
c.651C= (p.Tyr217=)
n.792C=
16g.20348734G>TCA394985440UMODc.567C>A (p.Tyr189Ter)
c.666C>A (p.Tyr222Ter)
c.714C>A (p.Tyr238Ter)
c.651C>A (p.Tyr217Ter)
n.792C>A
 gnomAD v4
16g.20348735T>ACA394985447UMODc.566A>T (p.Tyr189Phe)
c.665A>T (p.Tyr222Phe)
c.713A>T (p.Tyr238Phe)
c.650A>T (p.Tyr217Phe)
n.791A>T
 gnomAD v4
16g.20348735T>CCA394985444UMODc.566A>G (p.Tyr189Cys)
c.665A>G (p.Tyr222Cys)
c.713A>G (p.Tyr238Cys)
c.650A>G (p.Tyr217Cys)
n.791A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.20348735T>GCA394985446UMODc.566A>C (p.Tyr189Ser)
c.665A>C (p.Tyr222Ser)
c.713A>C (p.Tyr238Ser)
c.650A>C (p.Tyr217Ser)
n.791A>C
16g.20348735T=CA2211942553UMODc.566A= (p.Tyr189=)
c.665A= (p.Tyr222=)
c.713A= (p.Tyr238=)
c.650A= (p.Tyr217=)
n.791A=
16g.20348736A=CA2211942557UMODc.565T= (p.Tyr189=)
c.664T= (p.Tyr222=)
c.712T= (p.Tyr238=)
c.649T= (p.Tyr217=)
n.790T=
16g.20348736A>CCA394985448UMODc.565T>G (p.Tyr189Asp)
c.664T>G (p.Tyr222Asp)
c.712T>G (p.Tyr238Asp)
c.649T>G (p.Tyr217Asp)
n.790T>G
16g.20348736A>GCA394985450UMODc.565T>C (p.Tyr189His)
c.664T>C (p.Tyr222His)
c.712T>C (p.Tyr238His)
c.649T>C (p.Tyr217His)
n.790T>C
 gnomAD v4
16g.20348736A>TCA394985452UMODc.565T>A (p.Tyr189Asn)
c.664T>A (p.Tyr222Asn)
c.712T>A (p.Tyr238Asn)
c.649T>A (p.Tyr217Asn)
n.790T>A
 dbSNP gnomAD v3 gnomAD v4
16g.20348737C>ACA394985453UMODc.564G>T (p.Glu188Asp)
c.663G>T (p.Glu221Asp)
c.711G>T (p.Glu237Asp)
c.648G>T (p.Glu216Asp)
n.789G>T
 gnomAD v4
16g.20348737C=CA2211942560UMODc.564G= (p.Glu188=)
c.663G= (p.Glu221=)
c.711G= (p.Glu237=)
c.648G= (p.Glu216=)
n.789G=
16g.20348737C>GCA394985455UMODc.564G>C (p.Glu188Asp)
c.663G>C (p.Glu221Asp)
c.711G>C (p.Glu237Asp)
c.648G>C (p.Glu216Asp)
n.789G>C
 dbSNP gnomAD v3 gnomAD v4
16g.20348737C>TCA494096980UMODc.564G>A (p.Glu188=)
c.663G>A (p.Glu221=)
c.711G>A (p.Glu237=)
c.648G>A (p.Glu216=)
n.789G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.20348738T>ACA394985460UMODc.563A>T (p.Glu188Val)
c.662A>T (p.Glu221Val)
c.710A>T (p.Glu237Val)
c.647A>T (p.Glu216Val)
n.788A>T
16g.20348738T>CCA394985457UMODc.563A>G (p.Glu188Gly)
c.662A>G (p.Glu221Gly)
c.710A>G (p.Glu237Gly)
c.647A>G (p.Glu216Gly)
n.788A>G
16g.20348738T>GCA394985458UMODc.563A>C (p.Glu188Ala)
c.662A>C (p.Glu221Ala)
c.710A>C (p.Glu237Ala)
c.647A>C (p.Glu216Ala)
n.788A>C
 gnomAD v4
16g.20348739C>ACA394985462UMODc.562G>T (p.Glu188Ter)
c.661G>T (p.Glu221Ter)
c.709G>T (p.Glu237Ter)
c.646G>T (p.Glu216Ter)
n.787G>T
 gnomAD v4
16g.20348739C=CA2211942564UMODc.562G= (p.Glu188=)
c.661G= (p.Glu221=)
c.709G= (p.Glu237=)
c.646G= (p.Glu216=)
n.787G=
16g.20348739C>GCA394985463UMODc.562G>C (p.Glu188Gln)
c.661G>C (p.Glu221Gln)
c.709G>C (p.Glu237Gln)
c.646G>C (p.Glu216Gln)
n.787G>C
16g.20348739C>TCA7939432UMODc.562G>A (p.Glu188Lys)
c.661G>A (p.Glu221Lys)
c.709G>A (p.Glu237Lys)
c.646G>A (p.Glu216Lys)
n.787G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348740G>ACA7939433UMODc.561C>T (p.Thr187=)
c.660C>T (p.Thr220=)
c.708C>T (p.Thr236=)
c.645C>T (p.Thr215=)
n.786C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
16g.20348740G>CCA7939434UMODc.561C>G (p.Thr187=)
c.660C>G (p.Thr220=)
c.708C>G (p.Thr236=)
c.645C>G (p.Thr215=)
n.786C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.20348740G=CA2211942568UMODc.561C= (p.Thr187=)
c.660C= (p.Thr220=)
c.708C= (p.Thr236=)
c.645C= (p.Thr215=)
n.786C=
16g.20348740G>TCA494096988UMODc.561C>A (p.Thr187=)
c.660C>A (p.Thr220=)
c.708C>A (p.Thr236=)
c.645C>A (p.Thr215=)
n.786C>A
 gnomAD v4
16g.20348741G>ACA394985468UMODc.560C>T (p.Thr187Ile)
c.659C>T (p.Thr220Ile)
c.707C>T (p.Thr236Ile)
c.644C>T (p.Thr215Ile)
n.785C>T
 gnomAD v4
16g.20348741G>CCA394985470UMODc.560C>G (p.Thr187Ser)
c.659C>G (p.Thr220Ser)
c.707C>G (p.Thr236Ser)
c.644C>G (p.Thr215Ser)
n.785C>G
16g.20348741G=CA2211942578UMODc.560C= (p.Thr187=)
c.659C= (p.Thr220=)
c.707C= (p.Thr236=)
c.644C= (p.Thr215=)
n.785C=
16g.20348741G>TCA394985469UMODc.560C>A (p.Thr187Asn)
c.659C>A (p.Thr220Asn)
c.707C>A (p.Thr236Asn)
c.644C>A (p.Thr215Asn)
n.785C>A
 dbSNP gnomAD v2 gnomAD v4
16g.20348742T>ACA394985471UMODc.559A>T (p.Thr187Ser)
c.658A>T (p.Thr220Ser)
c.706A>T (p.Thr236Ser)
c.643A>T (p.Thr215Ser)
n.784A>T
16g.20348742T>CCA394985472UMODc.559A>G (p.Thr187Ala)
c.658A>G (p.Thr220Ala)
c.706A>G (p.Thr236Ala)
c.643A>G (p.Thr215Ala)
n.784A>G
 gnomAD v4
16g.20348742T>GCA394985473UMODc.559A>C (p.Thr187Pro)
c.658A>C (p.Thr220Pro)
c.706A>C (p.Thr236Pro)
c.643A>C (p.Thr215Pro)
n.784A>C
16g.20348743G>ACA494096995UMODc.558C>T (p.Ser186=)
c.657C>T (p.Ser219=)
c.705C>T (p.Ser235=)
c.642C>T (p.Ser214=)
n.783C>T
16g.20348743G>CCA394985475UMODc.558C>G (p.Ser186Arg)
c.657C>G (p.Ser219Arg)
c.705C>G (p.Ser235Arg)
c.642C>G (p.Ser214Arg)
n.783C>G
16g.20348743G>TCA394985476UMODc.558C>A (p.Ser186Arg)
c.657C>A (p.Ser219Arg)
c.705C>A (p.Ser235Arg)
c.642C>A (p.Ser214Arg)
n.783C>A
 gnomAD v4
16g.20348744C>ACA394985478UMODc.557G>T (p.Ser186Ile)
c.656G>T (p.Ser219Ile)
c.704G>T (p.Ser235Ile)
c.641G>T (p.Ser214Ile)
n.782G>T
 gnomAD v4
16g.20348744C>GCA394985480UMODc.557G>C (p.Ser186Thr)
c.656G>C (p.Ser219Thr)
c.704G>C (p.Ser235Thr)
c.641G>C (p.Ser214Thr)
n.782G>C
16g.20348744C>TCA394985482UMODc.557G>A (p.Ser186Asn)
c.656G>A (p.Ser219Asn)
c.704G>A (p.Ser235Asn)
c.641G>A (p.Ser214Asn)
n.782G>A
 gnomAD v4
16g.20348745T>ACA394985483UMODc.556A>T (p.Ser186Cys)
c.655A>T (p.Ser219Cys)
c.703A>T (p.Ser235Cys)
c.640A>T (p.Ser214Cys)
n.781A>T
16g.20348745T>CCA394985485UMODc.556A>G (p.Ser186Gly)
c.655A>G (p.Ser219Gly)
c.703A>G (p.Ser235Gly)
c.640A>G (p.Ser214Gly)
n.781A>G
 gnomAD v4
16g.20348745T>GCA394985486UMODc.556A>C (p.Ser186Arg)
c.655A>C (p.Ser219Arg)
c.703A>C (p.Ser235Arg)
c.640A>C (p.Ser214Arg)
n.781A>C
16g.20348745_20348772delinsTGCGCCAGTACTCGTCCAGGGTGCGGTGCA2211942581UMODc.529_556delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His177=)
c.628_655delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His210=)
c.676_703delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His226=)
c.613_640delinsCACCGCACCCTGGACGAGTACTGGCGCA (p.His205=)
n.754_781delinsCACCGCACCCTGGACGAGTACTGGCGCA
16g.20348746G>ACA279299904UMODc.555C>T (p.Arg185=)
c.654C>T (p.Arg218=)
c.702C>T (p.Arg234=)
c.639C>T (p.Arg213=)
n.780C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.20348746G>CCA494097008UMODc.555C>G (p.Arg185=)
c.654C>G (p.Arg218=)
c.702C>G (p.Arg234=)
c.639C>G (p.Arg213=)
n.780C>G
 dbSNP
16g.20348746G=CA2211942588UMODc.555C= (p.Arg185=)
c.654C= (p.Arg218=)
c.702C= (p.Arg234=)
c.639C= (p.Arg213=)
n.780C=
16g.20348746G>TCA494097009UMODc.555C>A (p.Arg185=)
c.654C>A (p.Arg218=)
c.702C>A (p.Arg234=)
c.639C>A (p.Arg213=)
n.780C>A
 gnomAD v4
16g.20348746_20348772delCA494097010UMODc.529_555del (p.His177_Arg185del)
c.628_654del (p.His210_Arg218del)
c.676_702del (p.His226_Arg234del)
c.613_639del (p.His205_Arg213del)
n.754_780del
 ClinVar dbSNP
16g.20348747C>ACA394985489UMODc.554G>T (p.Arg185Leu)
c.653G>T (p.Arg218Leu)
c.701G>T (p.Arg234Leu)
c.638G>T (p.Arg213Leu)
n.779G>T
 gnomAD v4
16g.20348747C>GCA394985491UMODc.554G>C (p.Arg185Pro)
c.653G>C (p.Arg218Pro)
c.701G>C (p.Arg234Pro)
c.638G>C (p.Arg213Pro)
n.779G>C
16g.20348747C>TCA394985490UMODc.554G>A (p.Arg185His)
c.653G>A (p.Arg218His)
c.701G>A (p.Arg234His)
c.638G>A (p.Arg213His)
n.779G>A
 ClinVar gnomAD v4
16g.20348748G>ACA394985492UMODc.553C>T (p.Arg185Cys)
c.652C>T (p.Arg218Cys)
c.700C>T (p.Arg234Cys)
c.637C>T (p.Arg213Cys)
n.778C>T
 ClinVar dbSNP gnomAD v4
16g.20348748G>CCA394985493UMODc.553C>G (p.Arg185Gly)
c.652C>G (p.Arg218Gly)
c.700C>G (p.Arg234Gly)
c.637C>G (p.Arg213Gly)
n.778C>G
16g.20348748G=CA2211942595UMODc.553C= (p.Arg185=)
c.652C= (p.Arg218=)
c.700C= (p.Arg234=)
c.637C= (p.Arg213=)
n.778C=
16g.20348748G>TCA394985495UMODc.553C>A (p.Arg185Ser)
c.652C>A (p.Arg218Ser)
c.700C>A (p.Arg234Ser)
c.637C>A (p.Arg213Ser)
n.778C>A
 ClinVar gnomAD v4
16g.20348749C>ACA394985496UMODc.552G>T (p.Trp184Cys)
c.651G>T (p.Trp217Cys)
c.699G>T (p.Trp233Cys)
c.636G>T (p.Trp212Cys)
n.777G>T
16g.20348749C=CA2211942604UMODc.552G= (p.Trp184=)
c.651G= (p.Trp217=)
c.699G= (p.Trp233=)
c.636G= (p.Trp212=)
n.777G=
16g.20348749C>GCA394985498UMODc.552G>C (p.Trp184Cys)
c.651G>C (p.Trp217Cys)
c.699G>C (p.Trp233Cys)
c.636G>C (p.Trp212Cys)
n.777G>C
 ClinVar dbSNP
16g.20348749C>TCA394985500UMODc.552G>A (p.Trp184Ter)
c.651G>A (p.Trp217Ter)
c.699G>A (p.Trp233Ter)
c.636G>A (p.Trp212Ter)
n.777G>A
 gnomAD v4
16g.20348750C>ACA394985504UMODc.551G>T (p.Trp184Leu)
c.650G>T (p.Trp217Leu)
c.698G>T (p.Trp233Leu)
c.635G>T (p.Trp212Leu)
n.776G>T
16g.20348750C>GCA394985501UMODc.551G>C (p.Trp184Ser)
c.650G>C (p.Trp217Ser)
c.698G>C (p.Trp233Ser)
c.635G>C (p.Trp212Ser)
n.776G>C
16g.20348750C>TCA394985503UMODc.551G>A (p.Trp184Ter)
c.650G>A (p.Trp217Ter)
c.698G>A (p.Trp233Ter)
c.635G>A (p.Trp212Ter)
n.776G>A
 gnomAD v4
16g.20348751A=CA2211942611UMODc.550T= (p.Trp184=)
c.649T= (p.Trp217=)
c.697T= (p.Trp233=)
c.634T= (p.Trp212=)
n.775T=
16g.20348751A>CCA394985506UMODc.550T>G (p.Trp184Gly)
c.649T>G (p.Trp217Gly)
c.697T>G (p.Trp233Gly)
c.634T>G (p.Trp212Gly)
n.775T>G
16g.20348751A>GCA394985508UMODc.550T>C (p.Trp184Arg)
c.649T>C (p.Trp217Arg)
c.697T>C (p.Trp233Arg)
c.634T>C (p.Trp212Arg)
n.775T>C
 dbSNP gnomAD v2 gnomAD v4
16g.20348751A>TCA394985510UMODc.550T>A (p.Trp184Arg)
c.649T>A (p.Trp217Arg)
c.697T>A (p.Trp233Arg)
c.634T>A (p.Trp212Arg)
n.775T>A
16g.20348752G>ACA494097019UMODc.549C>T (p.Tyr183=)
c.648C>T (p.Tyr216=)
c.696C>T (p.Tyr232=)
c.633C>T (p.Tyr211=)
n.774C>T
 gnomAD v4
16g.20348752G>CCA394985511UMODc.549C>G (p.Tyr183Ter)
c.648C>G (p.Tyr216Ter)
c.696C>G (p.Tyr232Ter)
c.633C>G (p.Tyr211Ter)
n.774C>G
16g.20348752G>TCA394985512UMODc.549C>A (p.Tyr183Ter)
c.648C>A (p.Tyr216Ter)
c.696C>A (p.Tyr232Ter)
c.633C>A (p.Tyr211Ter)
n.774C>A
 gnomAD v4

Number of alleles fetched