Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3456431G>ACA8875870TGIF1c.34G>A (p.Gly12Ser)
c.94G>A (p.Gly32Ser)
c.481G>A (p.Gly161Ser)
c.136G>A (p.Gly46Ser)
c.103G>A (p.Gly35Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456431G>CCA401722401TGIF1c.34G>C (p.Gly12Arg)
c.94G>C (p.Gly32Arg)
c.481G>C (p.Gly161Arg)
c.136G>C (p.Gly46Arg)
c.103G>C (p.Gly35Arg)
18g.3456431G=CA2281035098TGIF1c.34G= (p.Gly12=)
c.94G= (p.Gly32=)
c.481G= (p.Gly161=)
c.136G= (p.Gly46=)
c.103G= (p.Gly35=)
18g.3456431G>TCA401722402TGIF1c.34G>T (p.Gly12Cys)
c.94G>T (p.Gly32Cys)
c.481G>T (p.Gly161Cys)
c.136G>T (p.Gly46Cys)
c.103G>T (p.Gly35Cys)
18g.3456432G>ACA401722403TGIF1c.35G>A (p.Gly12Asp)
c.95G>A (p.Gly32Asp)
c.482G>A (p.Gly161Asp)
c.137G>A (p.Gly46Asp)
c.104G>A (p.Gly35Asp)
18g.3456432G>CCA401722404TGIF1c.35G>C (p.Gly12Ala)
c.95G>C (p.Gly32Ala)
c.482G>C (p.Gly161Ala)
c.137G>C (p.Gly46Ala)
c.104G>C (p.Gly35Ala)
18g.3456432G>TCA401722405TGIF1c.35G>T (p.Gly12Val)
c.95G>T (p.Gly32Val)
c.482G>T (p.Gly161Val)
c.137G>T (p.Gly46Val)
c.104G>T (p.Gly35Val)
18g.3456433C>ACA502810753TGIF1c.36C>A (p.Gly12=)
c.96C>A (p.Gly32=)
c.483C>A (p.Gly161=)
c.138C>A (p.Gly46=)
c.105C>A (p.Gly35=)
18g.3456433C>GCA502810754TGIF1c.36C>G (p.Gly12=)
c.96C>G (p.Gly32=)
c.483C>G (p.Gly161=)
c.138C>G (p.Gly46=)
c.105C>G (p.Gly35=)
18g.3456433C>TCA502810755TGIF1c.36C>T (p.Gly12=)
c.96C>T (p.Gly32=)
c.483C>T (p.Gly161=)
c.138C>T (p.Gly46=)
c.105C>T (p.Gly35=)
18g.3456434T>ACA401722408TGIF1c.37T>A (p.Ser13Thr)
c.97T>A (p.Ser33Thr)
c.484T>A (p.Ser162Thr)
c.139T>A (p.Ser47Thr)
c.106T>A (p.Ser36Thr)
18g.3456434T>CCA401722407TGIF1c.37T>C (p.Ser13Pro)
c.97T>C (p.Ser33Pro)
c.484T>C (p.Ser162Pro)
c.139T>C (p.Ser47Pro)
c.106T>C (p.Ser36Pro)
18g.3456434T>GCA401722406TGIF1c.37T>G (p.Ser13Ala)
c.97T>G (p.Ser33Ala)
c.484T>G (p.Ser162Ala)
c.139T>G (p.Ser47Ala)
c.106T>G (p.Ser36Ala)
18g.3456435C>ACA401722409TGIF1c.38C>A (p.Ser13Ter)
c.98C>A (p.Ser33Ter)
c.485C>A (p.Ser162Ter)
c.140C>A (p.Ser47Ter)
c.107C>A (p.Ser36Ter)
18g.3456435C>GCA401722410TGIF1c.38C>G (p.Ser13Ter)
c.98C>G (p.Ser33Ter)
c.485C>G (p.Ser162Ter)
c.140C>G (p.Ser47Ter)
c.107C>G (p.Ser36Ter)
18g.3456435C>TCA401722411TGIF1c.38C>T (p.Ser13Leu)
c.98C>T (p.Ser33Leu)
c.485C>T (p.Ser162Leu)
c.140C>T (p.Ser47Leu)
c.107C>T (p.Ser36Leu)
 dbSNP gnomAD v4
18g.3456436A>CCA502810756TGIF1c.39A>C (p.Ser13=)
c.99A>C (p.Ser33=)
c.486A>C (p.Ser162=)
c.141A>C (p.Ser47=)
c.108A>C (p.Ser36=)
 gnomAD v4
18g.3456436A>GCA502810757TGIF1c.39A>G (p.Ser13=)
c.99A>G (p.Ser33=)
c.486A>G (p.Ser162=)
c.141A>G (p.Ser47=)
c.108A>G (p.Ser36=)
18g.3456436A>TCA502810758TGIF1c.39A>T (p.Ser13=)
c.99A>T (p.Ser33=)
c.486A>T (p.Ser162=)
c.141A>T (p.Ser47=)
c.108A>T (p.Ser36=)
18g.3456437G>ACA401722412TGIF1c.40G>A (p.Gly14Ser)
c.100G>A (p.Gly34Ser)
c.487G>A (p.Gly163Ser)
c.142G>A (p.Gly48Ser)
c.109G>A (p.Gly37Ser)
18g.3456437G>CCA401722413TGIF1c.40G>C (p.Gly14Arg)
c.100G>C (p.Gly34Arg)
c.487G>C (p.Gly163Arg)
c.142G>C (p.Gly48Arg)
c.109G>C (p.Gly37Arg)
 dbSNP
18g.3456437G=CA2281035099TGIF1c.40G= (p.Gly14=)
c.100G= (p.Gly34=)
c.487G= (p.Gly163=)
c.142G= (p.Gly48=)
c.109G= (p.Gly37=)
18g.3456437G>TCA401722414TGIF1c.40G>T (p.Gly14Cys)
c.100G>T (p.Gly34Cys)
c.487G>T (p.Gly163Cys)
c.142G>T (p.Gly48Cys)
c.109G>T (p.Gly37Cys)
18g.3456438G>ACA401722415TGIF1c.41G>A (p.Gly14Asp)
c.101G>A (p.Gly34Asp)
c.488G>A (p.Gly163Asp)
c.143G>A (p.Gly48Asp)
c.110G>A (p.Gly37Asp)
18g.3456438G>CCA401722417TGIF1c.41G>C (p.Gly14Ala)
c.101G>C (p.Gly34Ala)
c.488G>C (p.Gly163Ala)
c.143G>C (p.Gly48Ala)
c.110G>C (p.Gly37Ala)
18g.3456438G=CA2281035100TGIF1c.41G= (p.Gly14=)
c.101G= (p.Gly34=)
c.488G= (p.Gly163=)
c.143G= (p.Gly48=)
c.110G= (p.Gly37=)
18g.3456438G>TCA401722416TGIF1c.41G>T (p.Gly14Val)
c.101G>T (p.Gly34Val)
c.488G>T (p.Gly163Val)
c.143G>T (p.Gly48Val)
c.110G>T (p.Gly37Val)
 dbSNP gnomAD v3 gnomAD v4
18g.3456439C>ACA502810759TGIF1c.42C>A (p.Gly14=)
c.102C>A (p.Gly34=)
c.489C>A (p.Gly163=)
c.144C>A (p.Gly48=)
c.111C>A (p.Gly37=)
18g.3456439C>GCA502810760TGIF1c.42C>G (p.Gly14=)
c.102C>G (p.Gly34=)
c.489C>G (p.Gly163=)
c.144C>G (p.Gly48=)
c.111C>G (p.Gly37=)
18g.3456439C>TCA502810761TGIF1c.42C>T (p.Gly14=)
c.102C>T (p.Gly34=)
c.489C>T (p.Gly163=)
c.144C>T (p.Gly48=)
c.111C>T (p.Gly37=)
18g.3456440A>CCA401722418TGIF1c.43A>C (p.Lys15Gln)
c.103A>C (p.Lys35Gln)
c.490A>C (p.Lys164Gln)
c.145A>C (p.Lys49Gln)
c.112A>C (p.Lys38Gln)
 gnomAD v4
18g.3456440A>GCA401722419TGIF1c.43A>G (p.Lys15Glu)
c.103A>G (p.Lys35Glu)
c.490A>G (p.Lys164Glu)
c.145A>G (p.Lys49Glu)
c.112A>G (p.Lys38Glu)
 gnomAD v4
18g.3456440A>TCA401722420TGIF1c.43A>T (p.Lys15Ter)
c.103A>T (p.Lys35Ter)
c.490A>T (p.Lys164Ter)
c.145A>T (p.Lys49Ter)
c.112A>T (p.Lys38Ter)
18g.3456441A>CCA401722421TGIF1c.44A>C (p.Lys15Thr)
c.104A>C (p.Lys35Thr)
c.491A>C (p.Lys164Thr)
c.146A>C (p.Lys49Thr)
c.113A>C (p.Lys38Thr)
18g.3456441A>GCA401722422TGIF1c.44A>G (p.Lys15Arg)
c.104A>G (p.Lys35Arg)
c.491A>G (p.Lys164Arg)
c.146A>G (p.Lys49Arg)
c.113A>G (p.Lys38Arg)
18g.3456441A>TCA401722423TGIF1c.44A>T (p.Lys15Met)
c.104A>T (p.Lys35Met)
c.491A>T (p.Lys164Met)
c.146A>T (p.Lys49Met)
c.113A>T (p.Lys38Met)
18g.3456442G>ACA502810762TGIF1c.45G>A (p.Lys15=)
c.105G>A (p.Lys35=)
c.492G>A (p.Lys164=)
c.147G>A (p.Lys49=)
c.114G>A (p.Lys38=)
 gnomAD v4
18g.3456442G>CCA401722424TGIF1c.45G>C (p.Lys15Asn)
c.105G>C (p.Lys35Asn)
c.492G>C (p.Lys164Asn)
c.147G>C (p.Lys49Asn)
c.114G>C (p.Lys38Asn)
18g.3456442G>TCA401722425TGIF1c.45G>T (p.Lys15Asn)
c.105G>T (p.Lys35Asn)
c.492G>T (p.Lys164Asn)
c.147G>T (p.Lys49Asn)
c.114G>T (p.Lys38Asn)
18g.3456442_3456445delinsGAGACA2281035101TGIF1c.45_48delinsGAGA (p.Lys15=)
c.105_108delinsGAGA (p.Lys35=)
c.492_495delinsGAGA (p.Lys164=)
c.147_150delinsGAGA (p.Lys49=)
c.114_117delinsGAGA (p.Lys38=)
18g.3456443A>CCA502810763TGIF1c.46A>C (p.Arg16=)
c.106A>C (p.Arg36=)
c.493A>C (p.Arg165=)
c.148A>C (p.Arg50=)
c.115A>C (p.Arg39=)
18g.3456443A>GCA401722426TGIF1c.46A>G (p.Arg16Gly)
c.106A>G (p.Arg36Gly)
c.493A>G (p.Arg165Gly)
c.148A>G (p.Arg50Gly)
c.115A>G (p.Arg39Gly)
18g.3456443A>TCA401722427TGIF1c.46A>T (p.Arg16Ter)
c.106A>T (p.Arg36Ter)
c.493A>T (p.Arg165Ter)
c.148A>T (p.Arg50Ter)
c.115A>T (p.Arg39Ter)
18g.3456445_3456447delCA295566525TGIF1c.48_50del (p.Arg17del)
c.108_110del (p.Arg37del)
c.495_497del (p.Arg166del)
c.150_152del (p.Arg51del)
c.117_119del (p.Arg40del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456444G>ACA401722430TGIF1c.47G>A (p.Arg16Lys)
c.107G>A (p.Arg36Lys)
c.494G>A (p.Arg165Lys)
c.149G>A (p.Arg50Lys)
c.116G>A (p.Arg39Lys)
 COSMIC
18g.3456444G>CCA401722429TGIF1c.47G>C (p.Arg16Thr)
c.107G>C (p.Arg36Thr)
c.494G>C (p.Arg165Thr)
c.149G>C (p.Arg50Thr)
c.116G>C (p.Arg39Thr)
18g.3456444G>TCA401722428TGIF1c.47G>T (p.Arg16Ile)
c.107G>T (p.Arg36Ile)
c.494G>T (p.Arg165Ile)
c.149G>T (p.Arg50Ile)
c.116G>T (p.Arg39Ile)
18g.3456445A>CCA401722431TGIF1c.48A>C (p.Arg16Ser)
c.108A>C (p.Arg36Ser)
c.495A>C (p.Arg165Ser)
c.150A>C (p.Arg50Ser)
c.117A>C (p.Arg39Ser)
18g.3456445A>GCA502810764TGIF1c.48A>G (p.Arg16=)
c.108A>G (p.Arg36=)
c.495A>G (p.Arg165=)
c.150A>G (p.Arg50=)
c.117A>G (p.Arg39=)
 gnomAD v4
18g.3456445A>TCA401722432TGIF1c.48A>T (p.Arg16Ser)
c.108A>T (p.Arg36Ser)
c.495A>T (p.Arg165Ser)
c.150A>T (p.Arg50Ser)
c.117A>T (p.Arg39Ser)
18g.3456445_3456448delinsAAGGCA2281035102TGIF1c.48_51delinsAAGG (p.Arg16=)
c.108_111delinsAAGG (p.Arg36=)
c.495_498delinsAAGG (p.Arg165=)
c.150_153delinsAAGG (p.Arg50=)
c.117_120delinsAAGG (p.Arg39=)
18g.3456446A>CCA502810765TGIF1c.49A>C (p.Arg17=)
c.109A>C (p.Arg37=)
c.496A>C (p.Arg166=)
c.151A>C (p.Arg51=)
c.118A>C (p.Arg40=)
18g.3456446A>GCA401722433TGIF1c.49A>G (p.Arg17Gly)
c.109A>G (p.Arg37Gly)
c.496A>G (p.Arg166Gly)
c.151A>G (p.Arg51Gly)
c.118A>G (p.Arg40Gly)
18g.3456446A>TCA401722434TGIF1c.49A>T (p.Arg17Trp)
c.109A>T (p.Arg37Trp)
c.496A>T (p.Arg166Trp)
c.151A>T (p.Arg51Trp)
c.118A>T (p.Arg40Trp)
18g.3456448_3456450delCA645599939TGIF1c.51_53del (p.Arg18del)
c.111_113del (p.Arg38del)
c.498_500del (p.Arg167del)
c.153_155del (p.Arg52del)
c.120_122del (p.Arg41del)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
18g.3456447G>ACA401722435TGIF1c.50G>A (p.Arg17Lys)
c.110G>A (p.Arg37Lys)
c.497G>A (p.Arg166Lys)
c.152G>A (p.Arg51Lys)
c.119G>A (p.Arg40Lys)
18g.3456447G>CCA401722436TGIF1c.50G>C (p.Arg17Thr)
c.110G>C (p.Arg37Thr)
c.497G>C (p.Arg166Thr)
c.152G>C (p.Arg51Thr)
c.119G>C (p.Arg40Thr)
18g.3456447G>TCA401722437TGIF1c.50G>T (p.Arg17Met)
c.110G>T (p.Arg37Met)
c.497G>T (p.Arg166Met)
c.152G>T (p.Arg51Met)
c.119G>T (p.Arg40Met)
18g.3456448G>ACA502810766TGIF1c.51G>A (p.Arg17=)
c.111G>A (p.Arg37=)
c.498G>A (p.Arg166=)
c.153G>A (p.Arg51=)
c.120G>A (p.Arg40=)
18g.3456448G>CCA401722438TGIF1c.51G>C (p.Arg17Ser)
c.111G>C (p.Arg37Ser)
c.498G>C (p.Arg166Ser)
c.153G>C (p.Arg51Ser)
c.120G>C (p.Arg40Ser)
18g.3456448G>TCA401722439TGIF1c.51G>T (p.Arg17Ser)
c.111G>T (p.Arg37Ser)
c.498G>T (p.Arg166Ser)
c.153G>T (p.Arg51Ser)
c.120G>T (p.Arg40Ser)
18g.3456449A=CA2281035103TGIF1c.52A= (p.Arg18=)
c.112A= (p.Arg38=)
c.499A= (p.Arg167=)
c.154A= (p.Arg52=)
c.121A= (p.Arg41=)
18g.3456449A>CCA502810767TGIF1c.52A>C (p.Arg18=)
c.112A>C (p.Arg38=)
c.499A>C (p.Arg167=)
c.154A>C (p.Arg52=)
c.121A>C (p.Arg41=)
18g.3456449A>GCA401722440TGIF1c.52A>G (p.Arg18Gly)
c.112A>G (p.Arg38Gly)
c.499A>G (p.Arg167Gly)
c.154A>G (p.Arg52Gly)
c.121A>G (p.Arg41Gly)
 dbSNP gnomAD v2 gnomAD v4
18g.3456449A>TCA401722441TGIF1c.52A>T (p.Arg18Ter)
c.112A>T (p.Arg38Ter)
c.499A>T (p.Arg167Ter)
c.154A>T (p.Arg52Ter)
c.121A>T (p.Arg41Ter)
18g.3456450G>ACA401722442TGIF1c.53G>A (p.Arg18Lys)
c.113G>A (p.Arg38Lys)
c.500G>A (p.Arg167Lys)
c.155G>A (p.Arg52Lys)
c.122G>A (p.Arg41Lys)
18g.3456450G>CCA401722443TGIF1c.53G>C (p.Arg18Thr)
c.113G>C (p.Arg38Thr)
c.500G>C (p.Arg167Thr)
c.155G>C (p.Arg52Thr)
c.122G>C (p.Arg41Thr)
 dbSNP gnomAD v2 gnomAD v4
18g.3456450G=CA2281035104TGIF1c.53G= (p.Arg18=)
c.113G= (p.Arg38=)
c.500G= (p.Arg167=)
c.155G= (p.Arg52=)
c.122G= (p.Arg41=)
18g.3456450G>TCA401722444TGIF1c.53G>T (p.Arg18Ile)
c.113G>T (p.Arg38Ile)
c.500G>T (p.Arg167Ile)
c.155G>T (p.Arg52Ile)
c.122G>T (p.Arg41Ile)
18g.3456451A>CCA401722445TGIF1c.54A>C (p.Arg18Ser)
c.114A>C (p.Arg38Ser)
c.501A>C (p.Arg167Ser)
c.156A>C (p.Arg52Ser)
c.123A>C (p.Arg41Ser)
18g.3456451A>GCA502810768TGIF1c.54A>G (p.Arg18=)
c.114A>G (p.Arg38=)
c.501A>G (p.Arg167=)
c.156A>G (p.Arg52=)
c.123A>G (p.Arg41=)
18g.3456451A>TCA401722446TGIF1c.54A>T (p.Arg18Ser)
c.114A>T (p.Arg38Ser)
c.501A>T (p.Arg167Ser)
c.156A>T (p.Arg52Ser)
c.123A>T (p.Arg41Ser)
18g.3456452A>CCA502810769TGIF1c.55A>C (p.Arg19=)
c.115A>C (p.Arg39=)
c.502A>C (p.Arg168=)
c.157A>C (p.Arg53=)
c.124A>C (p.Arg42=)
18g.3456452A>GCA401722447TGIF1c.55A>G (p.Arg19Gly)
c.115A>G (p.Arg39Gly)
c.502A>G (p.Arg168Gly)
c.157A>G (p.Arg53Gly)
c.124A>G (p.Arg42Gly)
18g.3456452A>TCA401722448TGIF1c.55A>T (p.Arg19Trp)
c.115A>T (p.Arg39Trp)
c.502A>T (p.Arg168Trp)
c.157A>T (p.Arg53Trp)
c.124A>T (p.Arg42Trp)
18g.3456453G>ACA401722449TGIF1c.56G>A (p.Arg19Lys)
c.116G>A (p.Arg39Lys)
c.503G>A (p.Arg168Lys)
c.158G>A (p.Arg53Lys)
c.125G>A (p.Arg42Lys)
18g.3456453G>CCA401722450TGIF1c.56G>C (p.Arg19Thr)
c.116G>C (p.Arg39Thr)
c.503G>C (p.Arg168Thr)
c.158G>C (p.Arg53Thr)
c.125G>C (p.Arg42Thr)
18g.3456453G>TCA401722451TGIF1c.56G>T (p.Arg19Met)
c.116G>T (p.Arg39Met)
c.503G>T (p.Arg168Met)
c.158G>T (p.Arg53Met)
c.125G>T (p.Arg42Met)
18g.3456454G>ACA502810770TGIF1c.57G>A (p.Arg19=)
c.117G>A (p.Arg39=)
c.504G>A (p.Arg168=)
c.159G>A (p.Arg53=)
c.126G>A (p.Arg42=)
18g.3456454G>CCA401722452TGIF1c.57G>C (p.Arg19Ser)
c.117G>C (p.Arg39Ser)
c.504G>C (p.Arg168Ser)
c.159G>C (p.Arg53Ser)
c.126G>C (p.Arg42Ser)
 dbSNP gnomAD v4
18g.3456454G=CA2281035105TGIF1c.57G= (p.Arg19=)
c.117G= (p.Arg39=)
c.504G= (p.Arg168=)
c.159G= (p.Arg53=)
c.126G= (p.Arg42=)
18g.3456454G>TCA401722453TGIF1c.57G>T (p.Arg19Ser)
c.117G>T (p.Arg39Ser)
c.504G>T (p.Arg168Ser)
c.159G>T (p.Arg53Ser)
c.126G>T (p.Arg42Ser)
18g.3456455G>ACA401722454TGIF1c.58G>A (p.Gly20Ser)
c.118G>A (p.Gly40Ser)
c.505G>A (p.Gly169Ser)
c.160G>A (p.Gly54Ser)
c.127G>A (p.Gly43Ser)
 gnomAD v4
18g.3456455G>CCA401722455TGIF1c.58G>C (p.Gly20Arg)
c.118G>C (p.Gly40Arg)
c.505G>C (p.Gly169Arg)
c.160G>C (p.Gly54Arg)
c.127G>C (p.Gly43Arg)
18g.3456455G>TCA401722456TGIF1c.58G>T (p.Gly20Cys)
c.118G>T (p.Gly40Cys)
c.505G>T (p.Gly169Cys)
c.160G>T (p.Gly54Cys)
c.127G>T (p.Gly43Cys)
18g.3456456G>ACA401722457TGIF1c.59G>A (p.Gly20Asp)
c.119G>A (p.Gly40Asp)
c.506G>A (p.Gly169Asp)
c.161G>A (p.Gly54Asp)
c.128G>A (p.Gly43Asp)
18g.3456456G>CCA401722458TGIF1c.59G>C (p.Gly20Ala)
c.119G>C (p.Gly40Ala)
c.506G>C (p.Gly169Ala)
c.161G>C (p.Gly54Ala)
c.128G>C (p.Gly43Ala)
18g.3456456G>TCA401722459TGIF1c.59G>T (p.Gly20Val)
c.119G>T (p.Gly40Val)
c.506G>T (p.Gly169Val)
c.161G>T (p.Gly54Val)
c.128G>T (p.Gly43Val)
18g.3456457C>ACA502810771TGIF1c.60C>A (p.Gly20=)
c.120C>A (p.Gly40=)
c.507C>A (p.Gly169=)
c.162C>A (p.Gly54=)
c.129C>A (p.Gly43=)
18g.3456457C=CA2281035106TGIF1c.60C= (p.Gly20=)
c.120C= (p.Gly40=)
c.507C= (p.Gly169=)
c.162C= (p.Gly54=)
c.129C= (p.Gly43=)
18g.3456457C>GCA502810772TGIF1c.60C>G (p.Gly20=)
c.120C>G (p.Gly40=)
c.507C>G (p.Gly169=)
c.162C>G (p.Gly54=)
c.129C>G (p.Gly43=)
18g.3456457C>TCA502810773TGIF1c.60C>T (p.Gly20=)
c.120C>T (p.Gly40=)
c.507C>T (p.Gly169=)
c.162C>T (p.Gly54=)
c.129C>T (p.Gly43=)
 dbSNP gnomAD v3 gnomAD v4
18g.3456458A>CCA401722460TGIF1c.61A>C (p.Asn21His)
c.121A>C (p.Asn41His)
c.508A>C (p.Asn170His)
c.163A>C (p.Asn55His)
c.130A>C (p.Asn44His)
18g.3456458A>GCA401722462TGIF1c.61A>G (p.Asn21Asp)
c.121A>G (p.Asn41Asp)
c.508A>G (p.Asn170Asp)
c.163A>G (p.Asn55Asp)
c.130A>G (p.Asn44Asp)
18g.3456458A>TCA401722461TGIF1c.61A>T (p.Asn21Tyr)
c.121A>T (p.Asn41Tyr)
c.508A>T (p.Asn170Tyr)
c.163A>T (p.Asn55Tyr)
c.130A>T (p.Asn44Tyr)
18g.3456459A=CA2281035107TGIF1c.62A= (p.Asn21=)
c.122A= (p.Asn41=)
c.509A= (p.Asn170=)
c.164A= (p.Asn55=)
c.131A= (p.Asn44=)
18g.3456459A>CCA401722463TGIF1c.62A>C (p.Asn21Thr)
c.122A>C (p.Asn41Thr)
c.509A>C (p.Asn170Thr)
c.164A>C (p.Asn55Thr)
c.131A>C (p.Asn44Thr)
 gnomAD v4
18g.3456459A>GCA401722465TGIF1c.62A>G (p.Asn21Ser)
c.122A>G (p.Asn41Ser)
c.509A>G (p.Asn170Ser)
c.164A>G (p.Asn55Ser)
c.131A>G (p.Asn44Ser)
 ClinVar dbSNP gnomAD v3 gnomAD v4
18g.3456459A>TCA401722464TGIF1c.62A>T (p.Asn21Ile)
c.122A>T (p.Asn41Ile)
c.509A>T (p.Asn170Ile)
c.164A>T (p.Asn55Ile)
c.131A>T (p.Asn44Ile)
18g.3456460C>ACA401722466TGIF1c.63C>A (p.Asn21Lys)
c.123C>A (p.Asn41Lys)
c.510C>A (p.Asn170Lys)
c.165C>A (p.Asn55Lys)
c.132C>A (p.Asn44Lys)
18g.3456460C=CA2281035108TGIF1c.63C= (p.Asn21=)
c.123C= (p.Asn41=)
c.510C= (p.Asn170=)
c.165C= (p.Asn55=)
c.132C= (p.Asn44=)
18g.3456460C>GCA401722467TGIF1c.63C>G (p.Asn21Lys)
c.123C>G (p.Asn41Lys)
c.510C>G (p.Asn170Lys)
c.165C>G (p.Asn55Lys)
c.132C>G (p.Asn44Lys)
18g.3456460C>TCA8875871TGIF1c.63C>T (p.Asn21=)
c.123C>T (p.Asn41=)
c.510C>T (p.Asn170=)
c.165C>T (p.Asn55=)
c.132C>T (p.Asn44=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456461C>ACA401722468TGIF1c.64C>A (p.Leu22Ile)
c.124C>A (p.Leu42Ile)
c.511C>A (p.Leu171Ile)
c.166C>A (p.Leu56Ile)
c.133C>A (p.Leu45Ile)
18g.3456461C=CA2281035109TGIF1c.64C= (p.Leu22=)
c.124C= (p.Leu42=)
c.511C= (p.Leu171=)
c.166C= (p.Leu56=)
c.133C= (p.Leu45=)
18g.3456461C>GCA401722469TGIF1c.64C>G (p.Leu22Val)
c.124C>G (p.Leu42Val)
c.511C>G (p.Leu171Val)
c.166C>G (p.Leu56Val)
c.133C>G (p.Leu45Val)
18g.3456461C>TCA502810774TGIF1c.64C>T (p.Leu22=)
c.124C>T (p.Leu42=)
c.511C>T (p.Leu171=)
c.166C>T (p.Leu56=)
c.133C>T (p.Leu45=)
 ClinVar dbSNP gnomAD v4
18g.3456462T>ACA401722470TGIF1c.65T>A (p.Leu22Gln)
c.125T>A (p.Leu42Gln)
c.512T>A (p.Leu171Gln)
c.167T>A (p.Leu56Gln)
c.134T>A (p.Leu45Gln)
 ClinVar dbSNP
18g.3456462T>CCA401722471TGIF1c.65T>C (p.Leu22Pro)
c.125T>C (p.Leu42Pro)
c.512T>C (p.Leu171Pro)
c.167T>C (p.Leu56Pro)
c.134T>C (p.Leu45Pro)
 gnomAD v4
18g.3456462T>GCA401722472TGIF1c.65T>G (p.Leu22Arg)
c.125T>G (p.Leu42Arg)
c.512T>G (p.Leu171Arg)
c.167T>G (p.Leu56Arg)
c.134T>G (p.Leu45Arg)
18g.3456462T=CA2281035110TGIF1c.65T= (p.Leu22=)
c.125T= (p.Leu42=)
c.512T= (p.Leu171=)
c.167T= (p.Leu56=)
c.134T= (p.Leu45=)
18g.3456463A>CCA502810775TGIF1c.66A>C (p.Leu22=)
c.126A>C (p.Leu42=)
c.513A>C (p.Leu171=)
c.168A>C (p.Leu56=)
c.135A>C (p.Leu45=)
18g.3456463A>GCA502810776TGIF1c.66A>G (p.Leu22=)
c.126A>G (p.Leu42=)
c.513A>G (p.Leu171=)
c.168A>G (p.Leu56=)
c.135A>G (p.Leu45=)
18g.3456463A>TCA502810777TGIF1c.66A>T (p.Leu22=)
c.126A>T (p.Leu42=)
c.513A>T (p.Leu171=)
c.168A>T (p.Leu56=)
c.135A>T (p.Leu45=)
18g.3456464C>ACA401722473TGIF1c.67C>A (p.Pro23Thr)
c.127C>A (p.Pro43Thr)
c.514C>A (p.Pro172Thr)
c.169C>A (p.Pro57Thr)
c.136C>A (p.Pro46Thr)
18g.3456464C>GCA401722474TGIF1c.67C>G (p.Pro23Ala)
c.127C>G (p.Pro43Ala)
c.514C>G (p.Pro172Ala)
c.169C>G (p.Pro57Ala)
c.136C>G (p.Pro46Ala)
18g.3456464C>TCA401722475TGIF1c.67C>T (p.Pro23Ser)
c.127C>T (p.Pro43Ser)
c.514C>T (p.Pro172Ser)
c.169C>T (p.Pro57Ser)
c.136C>T (p.Pro46Ser)
18g.3456466dupCA645599940TGIF1c.69dup (p.Lys24GlnfsTer13)
c.129dup (p.Lys44GlnfsTer13)
c.516dup (p.Lys173GlnfsTer13)
c.171dup (p.Lys58GlnfsTer13)
c.138dup (p.Lys47GlnfsTer13)
 COSMIC COSMIC
18g.3456465C>ACA401722478TGIF1c.68C>A (p.Pro23His)
c.128C>A (p.Pro43His)
c.515C>A (p.Pro172His)
c.170C>A (p.Pro57His)
c.137C>A (p.Pro46His)
18g.3456465C>GCA401722476TGIF1c.68C>G (p.Pro23Arg)
c.128C>G (p.Pro43Arg)
c.515C>G (p.Pro172Arg)
c.170C>G (p.Pro57Arg)
c.137C>G (p.Pro46Arg)
18g.3456465C>TCA401722477TGIF1c.68C>T (p.Pro23Leu)
c.128C>T (p.Pro43Leu)
c.515C>T (p.Pro172Leu)
c.170C>T (p.Pro57Leu)
c.137C>T (p.Pro46Leu)
18g.3456466C>ACA502810778TGIF1c.69C>A (p.Pro23=)
c.129C>A (p.Pro43=)
c.516C>A (p.Pro172=)
c.171C>A (p.Pro57=)
c.138C>A (p.Pro46=)
18g.3456466C>GCA502810779TGIF1c.69C>G (p.Pro23=)
c.129C>G (p.Pro43=)
c.516C>G (p.Pro172=)
c.171C>G (p.Pro57=)
c.138C>G (p.Pro46=)
18g.3456466C>TCA502810780TGIF1c.69C>T (p.Pro23=)
c.129C>T (p.Pro43=)
c.516C>T (p.Pro172=)
c.171C>T (p.Pro57=)
c.138C>T (p.Pro46=)
18g.3456467A>CCA401722479TGIF1c.70A>C (p.Lys24Gln)
c.130A>C (p.Lys44Gln)
c.517A>C (p.Lys173Gln)
c.172A>C (p.Lys58Gln)
c.139A>C (p.Lys47Gln)
18g.3456467A>GCA401722480TGIF1c.70A>G (p.Lys24Glu)
c.130A>G (p.Lys44Glu)
c.517A>G (p.Lys173Glu)
c.172A>G (p.Lys58Glu)
c.139A>G (p.Lys47Glu)
18g.3456467A>TCA401722481TGIF1c.70A>T (p.Lys24Ter)
c.130A>T (p.Lys44Ter)
c.517A>T (p.Lys173Ter)
c.172A>T (p.Lys58Ter)
c.139A>T (p.Lys47Ter)
18g.3456468A>CCA401722482TGIF1c.71A>C (p.Lys24Thr)
c.131A>C (p.Lys44Thr)
c.518A>C (p.Lys173Thr)
c.173A>C (p.Lys58Thr)
c.140A>C (p.Lys47Thr)
18g.3456468A>GCA401722483TGIF1c.71A>G (p.Lys24Arg)
c.131A>G (p.Lys44Arg)
c.518A>G (p.Lys173Arg)
c.173A>G (p.Lys58Arg)
c.140A>G (p.Lys47Arg)
18g.3456468A>TCA401722484TGIF1c.71A>T (p.Lys24Met)
c.131A>T (p.Lys44Met)
c.518A>T (p.Lys173Met)
c.173A>T (p.Lys58Met)
c.140A>T (p.Lys47Met)
18g.3456469G>ACA502810781TGIF1c.72G>A (p.Lys24=)
c.132G>A (p.Lys44=)
c.519G>A (p.Lys173=)
c.174G>A (p.Lys58=)
c.141G>A (p.Lys47=)
 dbSNP
18g.3456469G>CCA401722485TGIF1c.72G>C (p.Lys24Asn)
c.132G>C (p.Lys44Asn)
c.519G>C (p.Lys173Asn)
c.174G>C (p.Lys58Asn)
c.141G>C (p.Lys47Asn)
18g.3456469G=CA2281035111TGIF1c.72G= (p.Lys24=)
c.132G= (p.Lys44=)
c.519G= (p.Lys173=)
c.174G= (p.Lys58=)
c.141G= (p.Lys47=)
18g.3456469G>TCA401722486TGIF1c.72G>T (p.Lys24Asn)
c.132G>T (p.Lys44Asn)
c.519G>T (p.Lys173Asn)
c.174G>T (p.Lys58Asn)
c.141G>T (p.Lys47Asn)
18g.3456470G>ACA401722487TGIF1c.73G>A (p.Glu25Lys)
c.133G>A (p.Glu45Lys)
c.520G>A (p.Glu174Lys)
c.175G>A (p.Glu59Lys)
c.142G>A (p.Glu48Lys)
18g.3456470G>CCA401722488TGIF1c.73G>C (p.Glu25Gln)
c.133G>C (p.Glu45Gln)
c.520G>C (p.Glu174Gln)
c.175G>C (p.Glu59Gln)
c.142G>C (p.Glu48Gln)
18g.3456470G>TCA401722489TGIF1c.73G>T (p.Glu25Ter)
c.133G>T (p.Glu45Ter)
c.520G>T (p.Glu174Ter)
c.175G>T (p.Glu59Ter)
c.142G>T (p.Glu48Ter)
18g.3456471A=CA2281035112TGIF1c.74A= (p.Glu25=)
c.134A= (p.Glu45=)
c.521A= (p.Glu174=)
c.176A= (p.Glu59=)
c.143A= (p.Glu48=)
18g.3456471A>CCA401722490TGIF1c.74A>C (p.Glu25Ala)
c.134A>C (p.Glu45Ala)
c.521A>C (p.Glu174Ala)
c.176A>C (p.Glu59Ala)
c.143A>C (p.Glu48Ala)
 gnomAD v4
18g.3456471A>GCA401722491TGIF1c.74A>G (p.Glu25Gly)
c.134A>G (p.Glu45Gly)
c.521A>G (p.Glu174Gly)
c.176A>G (p.Glu59Gly)
c.143A>G (p.Glu48Gly)
18g.3456471A>TCA8875872TGIF1c.74A>T (p.Glu25Val)
c.134A>T (p.Glu45Val)
c.521A>T (p.Glu174Val)
c.176A>T (p.Glu59Val)
c.143A>T (p.Glu48Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456472G>ACA502810782TGIF1c.75G>A (p.Glu25=)
c.135G>A (p.Glu45=)
c.522G>A (p.Glu174=)
c.177G>A (p.Glu59=)
c.144G>A (p.Glu48=)
 dbSNP gnomAD v4
18g.3456472G>CCA401722492TGIF1c.75G>C (p.Glu25Asp)
c.135G>C (p.Glu45Asp)
c.522G>C (p.Glu174Asp)
c.177G>C (p.Glu59Asp)
c.144G>C (p.Glu48Asp)
18g.3456472G=CA2281035113TGIF1c.75G= (p.Glu25=)
c.135G= (p.Glu45=)
c.522G= (p.Glu174=)
c.177G= (p.Glu59=)
c.144G= (p.Glu48=)
18g.3456472G>TCA401722493TGIF1c.75G>T (p.Glu25Asp)
c.135G>T (p.Glu45Asp)
c.522G>T (p.Glu174Asp)
c.177G>T (p.Glu59Asp)
c.144G>T (p.Glu48Asp)
18g.3456473T>ACA401722494TGIF1c.76T>A (p.Ser26Thr)
c.136T>A (p.Ser46Thr)
c.523T>A (p.Ser175Thr)
c.178T>A (p.Ser60Thr)
c.145T>A (p.Ser49Thr)
18g.3456473T>CCA401722495TGIF1c.76T>C (p.Ser26Pro)
c.136T>C (p.Ser46Pro)
c.523T>C (p.Ser175Pro)
c.178T>C (p.Ser60Pro)
c.145T>C (p.Ser49Pro)
 dbSNP
18g.3456473T>GCA401722496TGIF1c.76T>G (p.Ser26Ala)
c.136T>G (p.Ser46Ala)
c.523T>G (p.Ser175Ala)
c.178T>G (p.Ser60Ala)
c.145T>G (p.Ser49Ala)
18g.3456473T=CA2281035114TGIF1c.76T= (p.Ser26=)
c.136T= (p.Ser46=)
c.523T= (p.Ser175=)
c.178T= (p.Ser60=)
c.145T= (p.Ser49=)
18g.3456474C>ACA401722499TGIF1c.77C>A (p.Ser26Tyr)
c.137C>A (p.Ser46Tyr)
c.524C>A (p.Ser175Tyr)
c.179C>A (p.Ser60Tyr)
c.146C>A (p.Ser49Tyr)
18g.3456474C>GCA401722498TGIF1c.77C>G (p.Ser26Cys)
c.137C>G (p.Ser46Cys)
c.524C>G (p.Ser175Cys)
c.179C>G (p.Ser60Cys)
c.146C>G (p.Ser49Cys)
18g.3456474C>TCA401722497TGIF1c.77C>T (p.Ser26Phe)
c.137C>T (p.Ser46Phe)
c.524C>T (p.Ser175Phe)
c.179C>T (p.Ser60Phe)
c.146C>T (p.Ser49Phe)
18g.3456475T>ACA502810783TGIF1c.78T>A (p.Ser26=)
c.138T>A (p.Ser46=)
c.525T>A (p.Ser175=)
c.180T>A (p.Ser60=)
c.147T>A (p.Ser49=)
18g.3456475T>CCA502810784TGIF1c.78T>C (p.Ser26=)
c.138T>C (p.Ser46=)
c.525T>C (p.Ser175=)
c.180T>C (p.Ser60=)
c.147T>C (p.Ser49=)
 gnomAD v4
18g.3456475T>GCA502810785TGIF1c.78T>G (p.Ser26=)
c.138T>G (p.Ser46=)
c.525T>G (p.Ser175=)
c.180T>G (p.Ser60=)
c.147T>G (p.Ser49=)
18g.3456477_3456478delCA645599941TGIF1c.80_81del (p.Val27AlafsTer9)
c.140_141del (p.Val47AlafsTer9)
c.527_528del (p.Val176AlafsTer9)
c.182_183del (p.Val61AlafsTer9)
c.149_150del (p.Val50AlafsTer9)
 COSMIC COSMIC
18g.3456476G>ACA16620688TGIF1c.79G>A (p.Val27Met)
c.139G>A (p.Val47Met)
c.526G>A (p.Val176Met)
c.181G>A (p.Val61Met)
c.148G>A (p.Val50Met)
 ClinVar dbSNP gnomAD v4
18g.3456476G>CCA401722500TGIF1c.79G>C (p.Val27Leu)
c.139G>C (p.Val47Leu)
c.526G>C (p.Val176Leu)
c.181G>C (p.Val61Leu)
c.148G>C (p.Val50Leu)
18g.3456476G=CA2281035115TGIF1c.79G= (p.Val27=)
c.139G= (p.Val47=)
c.526G= (p.Val176=)
c.181G= (p.Val61=)
c.148G= (p.Val50=)
18g.3456476G>TCA401722501TGIF1c.79G>T (p.Val27Leu)
c.139G>T (p.Val47Leu)
c.526G>T (p.Val176Leu)
c.181G>T (p.Val61Leu)
c.148G>T (p.Val50Leu)
 COSMIC
18g.3456477T>ACA401722502TGIF1c.80T>A (p.Val27Glu)
c.140T>A (p.Val47Glu)
c.527T>A (p.Val176Glu)
c.182T>A (p.Val61Glu)
c.149T>A (p.Val50Glu)
18g.3456477T>CCA401722503TGIF1c.80T>C (p.Val27Ala)
c.140T>C (p.Val47Ala)
c.527T>C (p.Val176Ala)
c.182T>C (p.Val61Ala)
c.149T>C (p.Val50Ala)
 gnomAD v4
18g.3456477T>GCA401722504TGIF1c.80T>G (p.Val27Gly)
c.140T>G (p.Val47Gly)
c.527T>G (p.Val176Gly)
c.182T>G (p.Val61Gly)
c.149T>G (p.Val50Gly)
18g.3456478G>ACA502810786TGIF1c.81G>A (p.Val27=)
c.141G>A (p.Val47=)
c.528G>A (p.Val176=)
c.183G>A (p.Val61=)
c.150G>A (p.Val50=)
 gnomAD v3 gnomAD v4
18g.3456478G>CCA502810787TGIF1c.81G>C (p.Val27=)
c.141G>C (p.Val47=)
c.528G>C (p.Val176=)
c.183G>C (p.Val61=)
c.150G>C (p.Val50=)
18g.3456478G>TCA502810788TGIF1c.81G>T (p.Val27=)
c.141G>T (p.Val47=)
c.528G>T (p.Val176=)
c.183G>T (p.Val61=)
c.150G>T (p.Val50=)
18g.3456479C>ACA401722505TGIF1c.82C>A (p.Gln28Lys)
c.142C>A (p.Gln48Lys)
c.529C>A (p.Gln177Lys)
c.184C>A (p.Gln62Lys)
c.151C>A (p.Gln51Lys)
18g.3456479C>GCA401722507TGIF1c.82C>G (p.Gln28Glu)
c.142C>G (p.Gln48Glu)
c.529C>G (p.Gln177Glu)
c.184C>G (p.Gln62Glu)
c.151C>G (p.Gln51Glu)
18g.3456479C>TCA401722506TGIF1c.82C>T (p.Gln28Ter)
c.142C>T (p.Gln48Ter)
c.529C>T (p.Gln177Ter)
c.184C>T (p.Gln62Ter)
c.151C>T (p.Gln51Ter)
18g.3456480A>CCA401722508TGIF1c.83A>C (p.Gln28Pro)
c.143A>C (p.Gln48Pro)
c.530A>C (p.Gln177Pro)
c.185A>C (p.Gln62Pro)
c.152A>C (p.Gln51Pro)
18g.3456480A>GCA401722509TGIF1c.83A>G (p.Gln28Arg)
c.143A>G (p.Gln48Arg)
c.530A>G (p.Gln177Arg)
c.185A>G (p.Gln62Arg)
c.152A>G (p.Gln51Arg)
18g.3456480A>TCA401722510TGIF1c.83A>T (p.Gln28Leu)
c.143A>T (p.Gln48Leu)
c.530A>T (p.Gln177Leu)
c.185A>T (p.Gln62Leu)
c.152A>T (p.Gln51Leu)
18g.3456481G>ACA502810789TGIF1c.84G>A (p.Gln28=)
c.144G>A (p.Gln48=)
c.531G>A (p.Gln177=)
c.186G>A (p.Gln62=)
c.153G>A (p.Gln51=)
18g.3456481G>CCA401722511TGIF1c.84G>C (p.Gln28His)
c.144G>C (p.Gln48His)
c.531G>C (p.Gln177His)
c.186G>C (p.Gln62His)
c.153G>C (p.Gln51His)
18g.3456481G>TCA401722512TGIF1c.84G>T (p.Gln28His)
c.144G>T (p.Gln48His)
c.531G>T (p.Gln177His)
c.186G>T (p.Gln62His)
c.153G>T (p.Gln51His)
18g.3456482A=CA2281035116TGIF1c.85A= (p.Ile29=)
c.145A= (p.Ile49=)
c.532A= (p.Ile178=)
c.187A= (p.Ile63=)
c.154A= (p.Ile52=)
18g.3456482A>CCA401722513TGIF1c.85A>C (p.Ile29Leu)
c.145A>C (p.Ile49Leu)
c.532A>C (p.Ile178Leu)
c.187A>C (p.Ile63Leu)
c.154A>C (p.Ile52Leu)
18g.3456482A>GCA8875873TGIF1c.85A>G (p.Ile29Val)
c.145A>G (p.Ile49Val)
c.532A>G (p.Ile178Val)
c.187A>G (p.Ile63Val)
c.154A>G (p.Ile52Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456482A>TCA401722514TGIF1c.85A>T (p.Ile29Phe)
c.145A>T (p.Ile49Phe)
c.532A>T (p.Ile178Phe)
c.187A>T (p.Ile63Phe)
c.154A>T (p.Ile52Phe)
18g.3456483T>ACA401722515TGIF1c.86T>A (p.Ile29Asn)
c.146T>A (p.Ile49Asn)
c.533T>A (p.Ile178Asn)
c.188T>A (p.Ile63Asn)
c.155T>A (p.Ile52Asn)
18g.3456483T>CCA401722516TGIF1c.86T>C (p.Ile29Thr)
c.146T>C (p.Ile49Thr)
c.533T>C (p.Ile178Thr)
c.188T>C (p.Ile63Thr)
c.155T>C (p.Ile52Thr)
18g.3456483T>GCA401722517TGIF1c.86T>G (p.Ile29Ser)
c.146T>G (p.Ile49Ser)
c.533T>G (p.Ile178Ser)
c.188T>G (p.Ile63Ser)
c.155T>G (p.Ile52Ser)
18g.3456484T>ACA502810790TGIF1c.87T>A (p.Ile29=)
c.147T>A (p.Ile49=)
c.534T>A (p.Ile178=)
c.189T>A (p.Ile63=)
c.156T>A (p.Ile52=)
18g.3456484T>CCA502810791TGIF1c.87T>C (p.Ile29=)
c.147T>C (p.Ile49=)
c.534T>C (p.Ile178=)
c.189T>C (p.Ile63=)
c.156T>C (p.Ile52=)
18g.3456484T>GCA401722518TGIF1c.87T>G (p.Ile29Met)
c.147T>G (p.Ile49Met)
c.534T>G (p.Ile178Met)
c.189T>G (p.Ile63Met)
c.156T>G (p.Ile52Met)
18g.3456485C>ACA401722520TGIF1c.88C>A (p.Leu30Ile)
c.148C>A (p.Leu50Ile)
c.535C>A (p.Leu179Ile)
c.190C>A (p.Leu64Ile)
c.157C>A (p.Leu53Ile)
 gnomAD v4 COSMIC COSMIC
18g.3456485C>GCA401722521TGIF1c.88C>G (p.Leu30Val)
c.148C>G (p.Leu50Val)
c.535C>G (p.Leu179Val)
c.190C>G (p.Leu64Val)
c.157C>G (p.Leu53Val)
18g.3456485C>TCA401722519TGIF1c.88C>T (p.Leu30Phe)
c.148C>T (p.Leu50Phe)
c.535C>T (p.Leu179Phe)
c.190C>T (p.Leu64Phe)
c.157C>T (p.Leu53Phe)
18g.3456486T>ACA401722522TGIF1c.89T>A (p.Leu30His)
c.149T>A (p.Leu50His)
c.536T>A (p.Leu179His)
c.191T>A (p.Leu64His)
c.158T>A (p.Leu53His)
18g.3456486T>CCA401722524TGIF1c.89T>C (p.Leu30Pro)
c.149T>C (p.Leu50Pro)
c.536T>C (p.Leu179Pro)
c.191T>C (p.Leu64Pro)
c.158T>C (p.Leu53Pro)
18g.3456486T>GCA401722523TGIF1c.89T>G (p.Leu30Arg)
c.149T>G (p.Leu50Arg)
c.536T>G (p.Leu179Arg)
c.191T>G (p.Leu64Arg)
c.158T>G (p.Leu53Arg)
18g.3456487T>ACA502810795TGIF1c.90T>A (p.Leu30=)
c.150T>A (p.Leu50=)
c.537T>A (p.Leu179=)
c.192T>A (p.Leu64=)
c.159T>A (p.Leu53=)
18g.3456487T>CCA502810796TGIF1c.90T>C (p.Leu30=)
c.150T>C (p.Leu50=)
c.537T>C (p.Leu179=)
c.192T>C (p.Leu64=)
c.159T>C (p.Leu53=)
 gnomAD v4
18g.3456487T>GCA502810797TGIF1c.90T>G (p.Leu30=)
c.150T>G (p.Leu50=)
c.537T>G (p.Leu179=)
c.192T>G (p.Leu64=)
c.159T>G (p.Leu53=)
18g.3456488delCA2640856170TGIF1c.91del (p.Arg31GlyfsTer?)
c.151del (p.Arg51GlyfsTer?)
c.538del (p.Arg180GlyfsTer?)
c.193del (p.Arg65GlyfsTer?)
c.160del (p.Arg54GlyfsTer?)
 gnomAD v4
18g.3456488C>ACA502810798TGIF1c.91C>A (p.Arg31=)
c.151C>A (p.Arg51=)
c.538C>A (p.Arg180=)
c.193C>A (p.Arg65=)
c.160C>A (p.Arg54=)
18g.3456488C=CA2281035117TGIF1c.91C= (p.Arg31=)
c.151C= (p.Arg51=)
c.538C= (p.Arg180=)
c.193C= (p.Arg65=)
c.160C= (p.Arg54=)
18g.3456488C>GCA401722525TGIF1c.91C>G (p.Arg31Gly)
c.151C>G (p.Arg51Gly)
c.538C>G (p.Arg180Gly)
c.193C>G (p.Arg65Gly)
c.160C>G (p.Arg54Gly)
18g.3456488C>TCA8875874TGIF1c.91C>T (p.Arg31Trp)
c.151C>T (p.Arg51Trp)
c.538C>T (p.Arg180Trp)
c.193C>T (p.Arg65Trp)
c.160C>T (p.Arg54Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456489G>ACA401722526TGIF1c.92G>A (p.Arg31Gln)
c.152G>A (p.Arg51Gln)
c.539G>A (p.Arg180Gln)
c.194G>A (p.Arg65Gln)
c.161G>A (p.Arg54Gln)
 dbSNP gnomAD v3 gnomAD v4
18g.3456489G>CCA401722528TGIF1c.92G>C (p.Arg31Pro)
c.152G>C (p.Arg51Pro)
c.539G>C (p.Arg180Pro)
c.194G>C (p.Arg65Pro)
c.161G>C (p.Arg54Pro)
18g.3456489G=CA2281035118TGIF1c.92G= (p.Arg31=)
c.152G= (p.Arg51=)
c.539G= (p.Arg180=)
c.194G= (p.Arg65=)
c.161G= (p.Arg54=)
18g.3456489G>TCA401722527TGIF1c.92G>T (p.Arg31Leu)
c.152G>T (p.Arg51Leu)
c.539G>T (p.Arg180Leu)
c.194G>T (p.Arg65Leu)
c.161G>T (p.Arg54Leu)
18g.3456490G>ACA502810801TGIF1c.93G>A (p.Arg31=)
c.153G>A (p.Arg51=)
c.540G>A (p.Arg180=)
c.195G>A (p.Arg65=)
c.162G>A (p.Arg54=)
 dbSNP
18g.3456490G>CCA502810802TGIF1c.93G>C (p.Arg31=)
c.153G>C (p.Arg51=)
c.540G>C (p.Arg180=)
c.195G>C (p.Arg65=)
c.162G>C (p.Arg54=)
18g.3456490G=CA2281035119TGIF1c.93G= (p.Arg31=)
c.153G= (p.Arg51=)
c.540G= (p.Arg180=)
c.195G= (p.Arg65=)
c.162G= (p.Arg54=)
18g.3456490G>TCA502810803TGIF1c.93G>T (p.Arg31=)
c.153G>T (p.Arg51=)
c.540G>T (p.Arg180=)
c.195G>T (p.Arg65=)
c.162G>T (p.Arg54=)
18g.3456491G>ACA401722529TGIF1c.94G>A (p.Asp32Asn)
c.154G>A (p.Asp52Asn)
c.541G>A (p.Asp181Asn)
c.196G>A (p.Asp66Asn)
c.163G>A (p.Asp55Asn)
18g.3456491G>CCA401722531TGIF1c.94G>C (p.Asp32His)
c.154G>C (p.Asp52His)
c.541G>C (p.Asp181His)
c.196G>C (p.Asp66His)
c.163G>C (p.Asp55His)
18g.3456491G>TCA401722530TGIF1c.94G>T (p.Asp32Tyr)
c.154G>T (p.Asp52Tyr)
c.541G>T (p.Asp181Tyr)
c.196G>T (p.Asp66Tyr)
c.163G>T (p.Asp55Tyr)
18g.3456492A>CCA401722532TGIF1c.95A>C (p.Asp32Ala)
c.155A>C (p.Asp52Ala)
c.542A>C (p.Asp181Ala)
c.197A>C (p.Asp66Ala)
c.164A>C (p.Asp55Ala)
18g.3456492A>GCA401722533TGIF1c.95A>G (p.Asp32Gly)
c.155A>G (p.Asp52Gly)
c.542A>G (p.Asp181Gly)
c.197A>G (p.Asp66Gly)
c.164A>G (p.Asp55Gly)
18g.3456492A>TCA401722534TGIF1c.95A>T (p.Asp32Val)
c.155A>T (p.Asp52Val)
c.542A>T (p.Asp181Val)
c.197A>T (p.Asp66Val)
c.164A>T (p.Asp55Val)
18g.3456493T>ACA401722535TGIF1c.96T>A (p.Asp32Glu)
c.156T>A (p.Asp52Glu)
c.543T>A (p.Asp181Glu)
c.198T>A (p.Asp66Glu)
c.165T>A (p.Asp55Glu)
18g.3456493T>CCA8875875TGIF1c.96T>C (p.Asp32=)
c.156T>C (p.Asp52=)
c.543T>C (p.Asp181=)
c.198T>C (p.Asp66=)
c.165T>C (p.Asp55=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456493T>GCA401722536TGIF1c.96T>G (p.Asp32Glu)
c.156T>G (p.Asp52Glu)
c.543T>G (p.Asp181Glu)
c.198T>G (p.Asp66Glu)
c.165T>G (p.Asp55Glu)
18g.3456493T=CA2281035120TGIF1c.96T= (p.Asp32=)
c.156T= (p.Asp52=)
c.543T= (p.Asp181=)
c.198T= (p.Asp66=)
c.165T= (p.Asp55=)
18g.3456494T>ACA401722537TGIF1c.97T>A (p.Trp33Arg)
c.157T>A (p.Trp53Arg)
c.544T>A (p.Trp182Arg)
c.199T>A (p.Trp67Arg)
c.166T>A (p.Trp56Arg)
18g.3456494T>CCA401722538TGIF1c.97T>C (p.Trp33Arg)
c.157T>C (p.Trp53Arg)
c.544T>C (p.Trp182Arg)
c.199T>C (p.Trp67Arg)
c.166T>C (p.Trp56Arg)
18g.3456494T>GCA401722539TGIF1c.97T>G (p.Trp33Gly)
c.157T>G (p.Trp53Gly)
c.544T>G (p.Trp182Gly)
c.199T>G (p.Trp67Gly)
c.166T>G (p.Trp56Gly)
18g.3456495G>ACA401722540TGIF1c.98G>A (p.Trp33Ter)
c.158G>A (p.Trp53Ter)
c.545G>A (p.Trp182Ter)
c.200G>A (p.Trp67Ter)
c.167G>A (p.Trp56Ter)
18g.3456495G>CCA401722541TGIF1c.98G>C (p.Trp33Ser)
c.158G>C (p.Trp53Ser)
c.545G>C (p.Trp182Ser)
c.200G>C (p.Trp67Ser)
c.167G>C (p.Trp56Ser)
18g.3456495G>TCA401722542TGIF1c.98G>T (p.Trp33Leu)
c.158G>T (p.Trp53Leu)
c.545G>T (p.Trp182Leu)
c.200G>T (p.Trp67Leu)
c.167G>T (p.Trp56Leu)
18g.3456496G>ACA401722545TGIF1c.99G>A (p.Trp33Ter)
c.159G>A (p.Trp53Ter)
c.546G>A (p.Trp182Ter)
c.201G>A (p.Trp67Ter)
c.168G>A (p.Trp56Ter)
 COSMIC COSMIC
18g.3456496G>CCA401722543TGIF1c.99G>C (p.Trp33Cys)
c.159G>C (p.Trp53Cys)
c.546G>C (p.Trp182Cys)
c.201G>C (p.Trp67Cys)
c.168G>C (p.Trp56Cys)
18g.3456496G>TCA401722544TGIF1c.99G>T (p.Trp33Cys)
c.159G>T (p.Trp53Cys)
c.546G>T (p.Trp182Cys)
c.201G>T (p.Trp67Cys)
c.168G>T (p.Trp56Cys)
 COSMIC COSMIC
18g.3456497C>ACA401722546TGIF1c.100C>A (p.Leu34Met)
c.160C>A (p.Leu54Met)
c.547C>A (p.Leu183Met)
c.202C>A (p.Leu68Met)
c.169C>A (p.Leu57Met)
18g.3456497C>GCA401722547TGIF1c.100C>G (p.Leu34Val)
c.160C>G (p.Leu54Val)
c.547C>G (p.Leu183Val)
c.202C>G (p.Leu68Val)
c.169C>G (p.Leu57Val)
18g.3456497C>TCA502810809TGIF1c.100C>T (p.Leu34=)
c.160C>T (p.Leu54=)
c.547C>T (p.Leu183=)
c.202C>T (p.Leu68=)
c.169C>T (p.Leu57=)
18g.3456498T>ACA401722548TGIF1c.101T>A (p.Leu34Gln)
c.161T>A (p.Leu54Gln)
c.548T>A (p.Leu183Gln)
c.203T>A (p.Leu68Gln)
c.170T>A (p.Leu57Gln)
18g.3456498T>CCA401722549TGIF1c.101T>C (p.Leu34Pro)
c.161T>C (p.Leu54Pro)
c.548T>C (p.Leu183Pro)
c.203T>C (p.Leu68Pro)
c.170T>C (p.Leu57Pro)
18g.3456498T>GCA401722550TGIF1c.101T>G (p.Leu34Arg)
c.161T>G (p.Leu54Arg)
c.548T>G (p.Leu183Arg)
c.203T>G (p.Leu68Arg)
c.170T>G (p.Leu57Arg)
18g.3456499G>ACA502810813TGIF1c.102G>A (p.Leu34=)
c.162G>A (p.Leu54=)
c.549G>A (p.Leu183=)
c.204G>A (p.Leu68=)
c.171G>A (p.Leu57=)
 gnomAD v4
18g.3456499G>CCA502810814TGIF1c.102G>C (p.Leu34=)
c.162G>C (p.Leu54=)
c.549G>C (p.Leu183=)
c.204G>C (p.Leu68=)
c.171G>C (p.Leu57=)
 dbSNP gnomAD v3 gnomAD v4
18g.3456499G=CA2281035121TGIF1c.102G= (p.Leu34=)
c.162G= (p.Leu54=)
c.549G= (p.Leu183=)
c.204G= (p.Leu68=)
c.171G= (p.Leu57=)
18g.3456499G>TCA502810815TGIF1c.102G>T (p.Leu34=)
c.162G>T (p.Leu54=)
c.549G>T (p.Leu183=)
c.204G>T (p.Leu68=)
c.171G>T (p.Leu57=)
18g.3456500T>ACA401722552TGIF1c.103T>A (p.Tyr35Asn)
c.163T>A (p.Tyr55Asn)
c.550T>A (p.Tyr184Asn)
c.205T>A (p.Tyr69Asn)
c.172T>A (p.Tyr58Asn)
18g.3456500T>CCA401722553TGIF1c.103T>C (p.Tyr35His)
c.163T>C (p.Tyr55His)
c.550T>C (p.Tyr184His)
c.205T>C (p.Tyr69His)
c.172T>C (p.Tyr58His)
18g.3456500T>GCA401722554TGIF1c.103T>G (p.Tyr35Asp)
c.163T>G (p.Tyr55Asp)
c.550T>G (p.Tyr184Asp)
c.205T>G (p.Tyr69Asp)
c.172T>G (p.Tyr58Asp)
 dbSNP
18g.3456500T=CA2281035122TGIF1c.103T= (p.Tyr35=)
c.163T= (p.Tyr55=)
c.550T= (p.Tyr184=)
c.205T= (p.Tyr69=)
c.172T= (p.Tyr58=)
18g.3456501A=CA2281035123TGIF1c.104A= (p.Tyr35=)
c.164A= (p.Tyr55=)
c.551A= (p.Tyr184=)
c.206A= (p.Tyr69=)
c.173A= (p.Tyr58=)
18g.3456501A>CCA401722555TGIF1c.104A>C (p.Tyr35Ser)
c.164A>C (p.Tyr55Ser)
c.551A>C (p.Tyr184Ser)
c.206A>C (p.Tyr69Ser)
c.173A>C (p.Tyr58Ser)
18g.3456501A>GCA401722556TGIF1c.104A>G (p.Tyr35Cys)
c.164A>G (p.Tyr55Cys)
c.551A>G (p.Tyr184Cys)
c.206A>G (p.Tyr69Cys)
c.173A>G (p.Tyr58Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456501A>TCA401722557TGIF1c.104A>T (p.Tyr35Phe)
c.164A>T (p.Tyr55Phe)
c.551A>T (p.Tyr184Phe)
c.206A>T (p.Tyr69Phe)
c.173A>T (p.Tyr58Phe)
18g.3456502T>ACA401722558TGIF1c.105T>A (p.Tyr35Ter)
c.165T>A (p.Tyr55Ter)
c.552T>A (p.Tyr184Ter)
c.207T>A (p.Tyr69Ter)
c.174T>A (p.Tyr58Ter)
18g.3456502T>CCA502810819TGIF1c.105T>C (p.Tyr35=)
c.165T>C (p.Tyr55=)
c.552T>C (p.Tyr184=)
c.207T>C (p.Tyr69=)
c.174T>C (p.Tyr58=)
18g.3456502T>GCA401722559TGIF1c.105T>G (p.Tyr35Ter)
c.165T>G (p.Tyr55Ter)
c.552T>G (p.Tyr184Ter)
c.207T>G (p.Tyr69Ter)
c.174T>G (p.Tyr58Ter)
 gnomAD v4
18g.3456503G>ACA401722560TGIF1c.106G>A (p.Glu36Lys)
c.166G>A (p.Glu56Lys)
c.553G>A (p.Glu185Lys)
c.208G>A (p.Glu70Lys)
c.175G>A (p.Glu59Lys)
18g.3456503G>CCA401722561TGIF1c.106G>C (p.Glu36Gln)
c.166G>C (p.Glu56Gln)
c.553G>C (p.Glu185Gln)
c.208G>C (p.Glu70Gln)
c.175G>C (p.Glu59Gln)
18g.3456503G>TCA401722562TGIF1c.106G>T (p.Glu36Ter)
c.166G>T (p.Glu56Ter)
c.553G>T (p.Glu185Ter)
c.208G>T (p.Glu70Ter)
c.175G>T (p.Glu59Ter)
18g.3456504A>CCA401722563TGIF1c.107A>C (p.Glu36Ala)
c.167A>C (p.Glu56Ala)
c.554A>C (p.Glu185Ala)
c.209A>C (p.Glu70Ala)
c.176A>C (p.Glu59Ala)
18g.3456504A>GCA401722564TGIF1c.107A>G (p.Glu36Gly)
c.167A>G (p.Glu56Gly)
c.554A>G (p.Glu185Gly)
c.209A>G (p.Glu70Gly)
c.176A>G (p.Glu59Gly)
18g.3456504A>TCA401722565TGIF1c.107A>T (p.Glu36Val)
c.167A>T (p.Glu56Val)
c.554A>T (p.Glu185Val)
c.209A>T (p.Glu70Val)
c.176A>T (p.Glu59Val)
18g.3456505G>ACA502810822TGIF1c.108G>A (p.Glu36=)
c.168G>A (p.Glu56=)
c.555G>A (p.Glu185=)
c.210G>A (p.Glu70=)
c.177G>A (p.Glu59=)
18g.3456505G>CCA401722566TGIF1c.108G>C (p.Glu36Asp)
c.168G>C (p.Glu56Asp)
c.555G>C (p.Glu185Asp)
c.210G>C (p.Glu70Asp)
c.177G>C (p.Glu59Asp)
 gnomAD v4
18g.3456505G>TCA401722567TGIF1c.108G>T (p.Glu36Asp)
c.168G>T (p.Glu56Asp)
c.555G>T (p.Glu185Asp)
c.210G>T (p.Glu70Asp)
c.177G>T (p.Glu59Asp)
18g.3456506C>ACA401722568TGIF1c.109C>A (p.His37Asn)
c.169C>A (p.His57Asn)
c.556C>A (p.His186Asn)
c.211C>A (p.His71Asn)
c.178C>A (p.His60Asn)
18g.3456506C>GCA401722569TGIF1c.109C>G (p.His37Asp)
c.169C>G (p.His57Asp)
c.556C>G (p.His186Asp)
c.211C>G (p.His71Asp)
c.178C>G (p.His60Asp)
18g.3456506C>TCA401722570TGIF1c.109C>T (p.His37Tyr)
c.169C>T (p.His57Tyr)
c.556C>T (p.His186Tyr)
c.211C>T (p.His71Tyr)
c.178C>T (p.His60Tyr)
18g.3456507A>CCA401722573TGIF1c.110A>C (p.His37Pro)
c.170A>C (p.His57Pro)
c.557A>C (p.His186Pro)
c.212A>C (p.His71Pro)
c.179A>C (p.His60Pro)
18g.3456507A>GCA401722572TGIF1c.110A>G (p.His37Arg)
c.170A>G (p.His57Arg)
c.557A>G (p.His186Arg)
c.212A>G (p.His71Arg)
c.179A>G (p.His60Arg)
 gnomAD v4
18g.3456507A>TCA401722571TGIF1c.110A>T (p.His37Leu)
c.170A>T (p.His57Leu)
c.557A>T (p.His186Leu)
c.212A>T (p.His71Leu)
c.179A>T (p.His60Leu)
18g.3456508C>ACA401722574TGIF1c.111C>A (p.His37Gln)
c.171C>A (p.His57Gln)
c.558C>A (p.His186Gln)
c.213C>A (p.His71Gln)
c.180C>A (p.His60Gln)
18g.3456508C>GCA401722575TGIF1c.111C>G (p.His37Gln)
c.171C>G (p.His57Gln)
c.558C>G (p.His186Gln)
c.213C>G (p.His71Gln)
c.180C>G (p.His60Gln)
18g.3456508C>TCA502810827TGIF1c.111C>T (p.His37=)
c.171C>T (p.His57=)
c.558C>T (p.His186=)
c.213C>T (p.His71=)
c.180C>T (p.His60=)
18g.3456509C>ACA401722576TGIF1c.112C>A (p.Arg38Ser)
c.172C>A (p.Arg58Ser)
c.559C>A (p.Arg187Ser)
c.214C>A (p.Arg72Ser)
c.181C>A (p.Arg61Ser)
 dbSNP gnomAD v3 gnomAD v4
18g.3456509C=CA2281035124TGIF1c.112C= (p.Arg38=)
c.172C= (p.Arg58=)
c.559C= (p.Arg187=)
c.214C= (p.Arg72=)
c.181C= (p.Arg61=)
18g.3456509C>GCA8875876TGIF1c.112C>G (p.Arg38Gly)
c.172C>G (p.Arg58Gly)
c.559C>G (p.Arg187Gly)
c.214C>G (p.Arg72Gly)
c.181C>G (p.Arg61Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456509C>TCA401722577TGIF1c.112C>T (p.Arg38Cys)
c.172C>T (p.Arg58Cys)
c.559C>T (p.Arg187Cys)
c.214C>T (p.Arg72Cys)
c.181C>T (p.Arg61Cys)
 dbSNP gnomAD v4
18g.3456510G>ACA401722578TGIF1c.113G>A (p.Arg38His)
c.173G>A (p.Arg58His)
c.560G>A (p.Arg187His)
c.215G>A (p.Arg72His)
c.182G>A (p.Arg61His)
 gnomAD v4
18g.3456510G>CCA401722579TGIF1c.113G>C (p.Arg38Pro)
c.173G>C (p.Arg58Pro)
c.560G>C (p.Arg187Pro)
c.215G>C (p.Arg72Pro)
c.182G>C (p.Arg61Pro)
18g.3456510G>TCA401722580TGIF1c.113G>T (p.Arg38Leu)
c.173G>T (p.Arg58Leu)
c.560G>T (p.Arg187Leu)
c.215G>T (p.Arg72Leu)
c.182G>T (p.Arg61Leu)
18g.3456511T>ACA8875877TGIF1c.114T>A (p.Arg38=)
c.174T>A (p.Arg58=)
c.561T>A (p.Arg187=)
c.216T>A (p.Arg72=)
c.183T>A (p.Arg61=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456511T>CCA502810831TGIF1c.114T>C (p.Arg38=)
c.174T>C (p.Arg58=)
c.561T>C (p.Arg187=)
c.216T>C (p.Arg72=)
c.183T>C (p.Arg61=)
 gnomAD v4
18g.3456511T>GCA502810832TGIF1c.114T>G (p.Arg38=)
c.174T>G (p.Arg58=)
c.561T>G (p.Arg187=)
c.216T>G (p.Arg72=)
c.183T>G (p.Arg61=)
18g.3456511T=CA2281035125TGIF1c.114T= (p.Arg38=)
c.174T= (p.Arg58=)
c.561T= (p.Arg187=)
c.216T= (p.Arg72=)
c.183T= (p.Arg61=)
18g.3456512dupCA2640856195TGIF1c.115dup (p.Tyr39LeufsTer26)
c.175dup (p.Tyr59LeufsTer26)
c.562dup (p.Tyr188LeufsTer26)
c.175dup (p.Tyr59LeufsTer?)
c.175dup (p.Tyr59LeufsTer30)
c.217dup (p.Tyr73LeufsTer26)
c.184dup (p.Tyr62LeufsTer26)
 gnomAD v4
18g.3456512T>ACA401722581TGIF1c.115T>A (p.Tyr39Asn)
c.175T>A (p.Tyr59Asn)
c.562T>A (p.Tyr188Asn)
c.217T>A (p.Tyr73Asn)
c.184T>A (p.Tyr62Asn)
18g.3456512T>CCA401722582TGIF1c.115T>C (p.Tyr39His)
c.175T>C (p.Tyr59His)
c.562T>C (p.Tyr188His)
c.217T>C (p.Tyr73His)
c.184T>C (p.Tyr62His)
18g.3456512T>GCA401722583TGIF1c.115T>G (p.Tyr39Asp)
c.175T>G (p.Tyr59Asp)
c.562T>G (p.Tyr188Asp)
c.217T>G (p.Tyr73Asp)
c.184T>G (p.Tyr62Asp)
18g.3456513A=CA2281035126TGIF1c.116A= (p.Tyr39=)
c.176A= (p.Tyr59=)
c.563A= (p.Tyr188=)
c.218A= (p.Tyr73=)
c.185A= (p.Tyr62=)
18g.3456513A>CCA401722585TGIF1c.116A>C (p.Tyr39Ser)
c.176A>C (p.Tyr59Ser)
c.563A>C (p.Tyr188Ser)
c.218A>C (p.Tyr73Ser)
c.185A>C (p.Tyr62Ser)
18g.3456513A>GCA8875878TGIF1c.116A>G (p.Tyr39Cys)
c.176A>G (p.Tyr59Cys)
c.563A>G (p.Tyr188Cys)
c.218A>G (p.Tyr73Cys)
c.185A>G (p.Tyr62Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456513A>TCA401722584TGIF1c.116A>T (p.Tyr39Phe)
c.176A>T (p.Tyr59Phe)
c.563A>T (p.Tyr188Phe)
c.218A>T (p.Tyr73Phe)
c.185A>T (p.Tyr62Phe)
18g.3456514_3456516delCA645599942TGIF1c.117_119del (p.Asn40del)
c.177_179del (p.Asn60del)
c.564_566del (p.Asn189del)
c.219_221del (p.Asn74del)
c.186_188del (p.Asn63del)
 COSMIC COSMIC
18g.3456514C>ACA401722586TGIF1c.117C>A (p.Tyr39Ter)
c.177C>A (p.Tyr59Ter)
c.564C>A (p.Tyr188Ter)
c.219C>A (p.Tyr73Ter)
c.186C>A (p.Tyr62Ter)
 COSMIC
18g.3456514C=CA2281035127TGIF1c.117C= (p.Tyr39=)
c.177C= (p.Tyr59=)
c.564C= (p.Tyr188=)
c.219C= (p.Tyr73=)
c.186C= (p.Tyr62=)
18g.3456514C>GCA401722587TGIF1c.117C>G (p.Tyr39Ter)
c.177C>G (p.Tyr59Ter)
c.564C>G (p.Tyr188Ter)
c.219C>G (p.Tyr73Ter)
c.186C>G (p.Tyr62Ter)
18g.3456514C>TCA8875879TGIF1c.117C>T (p.Tyr39=)
c.177C>T (p.Tyr59=)
c.564C>T (p.Tyr188=)
c.219C>T (p.Tyr73=)
c.186C>T (p.Tyr62=)
 dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456514dupCA645599943TGIF1c.117dup (p.Asn40GlnfsTer25)
c.177dup (p.Asn60GlnfsTer25)
c.564dup (p.Asn189GlnfsTer25)
c.177dup (p.Asn60GlnfsTer?)
c.177dup (p.Asn60GlnfsTer29)
c.219dup (p.Asn74GlnfsTer25)
c.186dup (p.Asn63GlnfsTer25)
 COSMIC COSMIC
18g.3456515A>CCA401722588TGIF1c.118A>C (p.Asn40His)
c.178A>C (p.Asn60His)
c.565A>C (p.Asn189His)
c.220A>C (p.Asn74His)
c.187A>C (p.Asn63His)
18g.3456515A>GCA401722589TGIF1c.118A>G (p.Asn40Asp)
c.178A>G (p.Asn60Asp)
c.565A>G (p.Asn189Asp)
c.220A>G (p.Asn74Asp)
c.187A>G (p.Asn63Asp)
18g.3456515A>TCA401722590TGIF1c.118A>T (p.Asn40Tyr)
c.178A>T (p.Asn60Tyr)
c.565A>T (p.Asn189Tyr)
c.220A>T (p.Asn74Tyr)
c.187A>T (p.Asn63Tyr)
18g.3456516A>CCA401722591TGIF1c.119A>C (p.Asn40Thr)
c.179A>C (p.Asn60Thr)
c.566A>C (p.Asn189Thr)
c.221A>C (p.Asn74Thr)
c.188A>C (p.Asn63Thr)
18g.3456516A>GCA401722592TGIF1c.119A>G (p.Asn40Ser)
c.179A>G (p.Asn60Ser)
c.566A>G (p.Asn189Ser)
c.221A>G (p.Asn74Ser)
c.188A>G (p.Asn63Ser)
 gnomAD v4
18g.3456516A>TCA401722593TGIF1c.119A>T (p.Asn40Ile)
c.179A>T (p.Asn60Ile)
c.566A>T (p.Asn189Ile)
c.221A>T (p.Asn74Ile)
c.188A>T (p.Asn63Ile)
18g.3456517T>ACA401722594TGIF1c.120T>A (p.Asn40Lys)
c.180T>A (p.Asn60Lys)
c.567T>A (p.Asn189Lys)
c.222T>A (p.Asn74Lys)
c.189T>A (p.Asn63Lys)
 gnomAD v4
18g.3456517T>CCA502810840TGIF1c.120T>C (p.Asn40=)
c.180T>C (p.Asn60=)
c.567T>C (p.Asn189=)
c.222T>C (p.Asn74=)
c.189T>C (p.Asn63=)
18g.3456517T>GCA401722595TGIF1c.120T>G (p.Asn40Lys)
c.180T>G (p.Asn60Lys)
c.567T>G (p.Asn189Lys)
c.222T>G (p.Asn74Lys)
c.189T>G (p.Asn63Lys)
 gnomAD v4
18g.3456518G>ACA401722596TGIF1c.121G>A (p.Ala41Thr)
c.181G>A (p.Ala61Thr)
c.568G>A (p.Ala190Thr)
c.223G>A (p.Ala75Thr)
c.190G>A (p.Ala64Thr)
18g.3456518G>CCA401722597TGIF1c.121G>C (p.Ala41Pro)
c.181G>C (p.Ala61Pro)
c.568G>C (p.Ala190Pro)
c.223G>C (p.Ala75Pro)
c.190G>C (p.Ala64Pro)
18g.3456518G>TCA401722598TGIF1c.121G>T (p.Ala41Ser)
c.181G>T (p.Ala61Ser)
c.568G>T (p.Ala190Ser)
c.223G>T (p.Ala75Ser)
c.190G>T (p.Ala64Ser)
18g.3456519C>ACA401722601TGIF1c.122C>A (p.Ala41Asp)
c.182C>A (p.Ala61Asp)
c.569C>A (p.Ala190Asp)
c.224C>A (p.Ala75Asp)
c.191C>A (p.Ala64Asp)
18g.3456519C>GCA401722600TGIF1c.122C>G (p.Ala41Gly)
c.182C>G (p.Ala61Gly)
c.569C>G (p.Ala190Gly)
c.224C>G (p.Ala75Gly)
c.191C>G (p.Ala64Gly)
 gnomAD v4
18g.3456519C>TCA401722599TGIF1c.122C>T (p.Ala41Val)
c.182C>T (p.Ala61Val)
c.569C>T (p.Ala190Val)
c.224C>T (p.Ala75Val)
c.191C>T (p.Ala64Val)
18g.3456520C>ACA502810842TGIF1c.123C>A (p.Ala41=)
c.183C>A (p.Ala61=)
c.570C>A (p.Ala190=)
c.225C>A (p.Ala75=)
c.192C>A (p.Ala64=)
18g.3456520C>GCA502810843TGIF1c.123C>G (p.Ala41=)
c.183C>G (p.Ala61=)
c.570C>G (p.Ala190=)
c.225C>G (p.Ala75=)
c.192C>G (p.Ala64=)
18g.3456520C>TCA502810844TGIF1c.123C>T (p.Ala41=)
c.183C>T (p.Ala61=)
c.570C>T (p.Ala190=)
c.225C>T (p.Ala75=)
c.192C>T (p.Ala64=)
 gnomAD v4
18g.3456521T>ACA401722602TGIF1c.124T>A (p.Tyr42Asn)
c.184T>A (p.Tyr62Asn)
c.571T>A (p.Tyr191Asn)
c.226T>A (p.Tyr76Asn)
c.193T>A (p.Tyr65Asn)
18g.3456521T>CCA401722603TGIF1c.124T>C (p.Tyr42His)
c.184T>C (p.Tyr62His)
c.571T>C (p.Tyr191His)
c.226T>C (p.Tyr76His)
c.193T>C (p.Tyr65His)
18g.3456521T>GCA401722604TGIF1c.124T>G (p.Tyr42Asp)
c.184T>G (p.Tyr62Asp)
c.571T>G (p.Tyr191Asp)
c.226T>G (p.Tyr76Asp)
c.193T>G (p.Tyr65Asp)
18g.3456522A>CCA401722605TGIF1c.125A>C (p.Tyr42Ser)
c.185A>C (p.Tyr62Ser)
c.572A>C (p.Tyr191Ser)
c.227A>C (p.Tyr76Ser)
c.194A>C (p.Tyr65Ser)
18g.3456522A>GCA401722606TGIF1c.125A>G (p.Tyr42Cys)
c.185A>G (p.Tyr62Cys)
c.572A>G (p.Tyr191Cys)
c.227A>G (p.Tyr76Cys)
c.194A>G (p.Tyr65Cys)
 gnomAD v4
18g.3456522A>TCA401722607TGIF1c.125A>T (p.Tyr42Phe)
c.185A>T (p.Tyr62Phe)
c.572A>T (p.Tyr191Phe)
c.227A>T (p.Tyr76Phe)
c.194A>T (p.Tyr65Phe)
18g.3456523T>ACA401722608TGIF1c.126T>A (p.Tyr42Ter)
c.186T>A (p.Tyr62Ter)
c.573T>A (p.Tyr191Ter)
c.228T>A (p.Tyr76Ter)
c.195T>A (p.Tyr65Ter)
18g.3456523T>CCA502810846TGIF1c.126T>C (p.Tyr42=)
c.186T>C (p.Tyr62=)
c.573T>C (p.Tyr191=)
c.228T>C (p.Tyr76=)
c.195T>C (p.Tyr65=)
18g.3456523T>GCA401722609TGIF1c.126T>G (p.Tyr42Ter)
c.186T>G (p.Tyr62Ter)
c.573T>G (p.Tyr191Ter)
c.228T>G (p.Tyr76Ter)
c.195T>G (p.Tyr65Ter)
18g.3456524C>ACA401722610TGIF1c.127C>A (p.Pro43Thr)
c.187C>A (p.Pro63Thr)
c.574C>A (p.Pro192Thr)
c.229C>A (p.Pro77Thr)
c.196C>A (p.Pro66Thr)
18g.3456524C>GCA401722611TGIF1c.127C>G (p.Pro43Ala)
c.187C>G (p.Pro63Ala)
c.574C>G (p.Pro192Ala)
c.229C>G (p.Pro77Ala)
c.196C>G (p.Pro66Ala)
 gnomAD v4
18g.3456524C>TCA401722612TGIF1c.127C>T (p.Pro43Ser)
c.187C>T (p.Pro63Ser)
c.574C>T (p.Pro192Ser)
c.229C>T (p.Pro77Ser)
c.196C>T (p.Pro66Ser)
18g.3456525C>ACA401722614TGIF1c.128C>A (p.Pro43His)
c.188C>A (p.Pro63His)
c.575C>A (p.Pro192His)
c.230C>A (p.Pro77His)
c.197C>A (p.Pro66His)
18g.3456525C=CA2281035128TGIF1c.128C= (p.Pro43=)
c.188C= (p.Pro63=)
c.575C= (p.Pro192=)
c.230C= (p.Pro77=)
c.197C= (p.Pro66=)
18g.3456525C>GCA254026TGIF1c.128C>G (p.Pro43Arg)
c.188C>G (p.Pro63Arg)
c.575C>G (p.Pro192Arg)
c.230C>G (p.Pro77Arg)
c.197C>G (p.Pro66Arg)
 ClinVar dbSNP
18g.3456525C>TCA401722613TGIF1c.128C>T (p.Pro43Leu)
c.188C>T (p.Pro63Leu)
c.575C>T (p.Pro192Leu)
c.230C>T (p.Pro77Leu)
c.197C>T (p.Pro66Leu)
18g.3456526T>ACA502810849TGIF1c.129T>A (p.Pro43=)
c.189T>A (p.Pro63=)
c.576T>A (p.Pro192=)
c.231T>A (p.Pro77=)
c.198T>A (p.Pro66=)
18g.3456526T>CCA502810851TGIF1c.129T>C (p.Pro43=)
c.189T>C (p.Pro63=)
c.576T>C (p.Pro192=)
c.231T>C (p.Pro77=)
c.198T>C (p.Pro66=)
18g.3456526T>GCA502810853TGIF1c.129T>G (p.Pro43=)
c.189T>G (p.Pro63=)
c.576T>G (p.Pro192=)
c.231T>G (p.Pro77=)
c.198T>G (p.Pro66=)
18g.3456527T>ACA401722615TGIF1c.130T>A (p.Ser44Thr)
c.190T>A (p.Ser64Thr)
c.577T>A (p.Ser193Thr)
c.232T>A (p.Ser78Thr)
c.199T>A (p.Ser67Thr)
18g.3456527T>CCA401722616TGIF1c.130T>C (p.Ser44Pro)
c.190T>C (p.Ser64Pro)
c.577T>C (p.Ser193Pro)
c.232T>C (p.Ser78Pro)
c.199T>C (p.Ser67Pro)
18g.3456527T>GCA401722617TGIF1c.130T>G (p.Ser44Ala)
c.190T>G (p.Ser64Ala)
c.577T>G (p.Ser193Ala)
c.232T>G (p.Ser78Ala)
c.199T>G (p.Ser67Ala)
18g.3456528C>ACA401722618TGIF1c.131C>A (p.Ser44Ter)
c.191C>A (p.Ser64Ter)
c.578C>A (p.Ser193Ter)
c.233C>A (p.Ser78Ter)
c.200C>A (p.Ser67Ter)
 COSMIC
18g.3456528C>GCA401722619TGIF1c.131C>G (p.Ser44Ter)
c.191C>G (p.Ser64Ter)
c.578C>G (p.Ser193Ter)
c.233C>G (p.Ser78Ter)
c.200C>G (p.Ser67Ter)
18g.3456528C>TCA401722620TGIF1c.131C>T (p.Ser44Leu)
c.191C>T (p.Ser64Leu)
c.578C>T (p.Ser193Leu)
c.233C>T (p.Ser78Leu)
c.200C>T (p.Ser67Leu)
18g.3456529A=CA2281035129TGIF1c.132A= (p.Ser44=)
c.192A= (p.Ser64=)
c.579A= (p.Ser193=)
c.234A= (p.Ser78=)
c.201A= (p.Ser67=)
18g.3456529A>CCA502810855TGIF1c.132A>C (p.Ser44=)
c.192A>C (p.Ser64=)
c.579A>C (p.Ser193=)
c.234A>C (p.Ser78=)
c.201A>C (p.Ser67=)
18g.3456529A>GCA502810857TGIF1c.132A>G (p.Ser44=)
c.192A>G (p.Ser64=)
c.579A>G (p.Ser193=)
c.234A>G (p.Ser78=)
c.201A>G (p.Ser67=)
 dbSNP gnomAD v3 gnomAD v4
18g.3456529A>TCA502810859TGIF1c.132A>T (p.Ser44=)
c.192A>T (p.Ser64=)
c.579A>T (p.Ser193=)
c.234A>T (p.Ser78=)
c.201A>T (p.Ser67=)
18g.3456530G>ACA401722623TGIF1c.133G>A (p.Glu45Lys)
c.193G>A (p.Glu65Lys)
c.580G>A (p.Glu194Lys)
c.235G>A (p.Glu79Lys)
c.202G>A (p.Glu68Lys)
18g.3456530G>CCA401722621TGIF1c.133G>C (p.Glu45Gln)
c.193G>C (p.Glu65Gln)
c.580G>C (p.Glu194Gln)
c.235G>C (p.Glu79Gln)
c.202G>C (p.Glu68Gln)
 dbSNP gnomAD v2 gnomAD v4
18g.3456530G=CA2281035130TGIF1c.133G= (p.Glu45=)
c.193G= (p.Glu65=)
c.580G= (p.Glu194=)
c.235G= (p.Glu79=)
c.202G= (p.Glu68=)
18g.3456530G>TCA401722622TGIF1c.133G>T (p.Glu45Ter)
c.193G>T (p.Glu65Ter)
c.580G>T (p.Glu194Ter)
c.235G>T (p.Glu79Ter)
c.202G>T (p.Glu68Ter)
 COSMIC
18g.3456531A>CCA401722624TGIF1c.134A>C (p.Glu45Ala)
c.194A>C (p.Glu65Ala)
c.581A>C (p.Glu194Ala)
c.236A>C (p.Glu79Ala)
c.203A>C (p.Glu68Ala)
 gnomAD v4
18g.3456531A>GCA401722625TGIF1c.134A>G (p.Glu45Gly)
c.194A>G (p.Glu65Gly)
c.581A>G (p.Glu194Gly)
c.236A>G (p.Glu79Gly)
c.203A>G (p.Glu68Gly)
18g.3456531A>TCA401722626TGIF1c.134A>T (p.Glu45Val)
c.194A>T (p.Glu65Val)
c.581A>T (p.Glu194Val)
c.236A>T (p.Glu79Val)
c.203A>T (p.Glu68Val)

Number of alleles fetched