Chr Mutation (hg38) CAid Gene Transcript Linkouts
18g.3456327T>ACA295566425TGIF1c.-44-27T>A (n.-44-27T>A)
c.17-27T>A (n.17-27T>A)
c.404-27T>A (n.404-27T>A)
c.-71T>A (n.-71T>A)
c.59-27T>A (n.59-27T>A)
c.26-27T>A (n.26-27T>A)
dbSNP
18g.3456327T=CA2281035061TGIF1c.-44-27T= (n.-44-27T=)
c.17-27T= (n.17-27T=)
c.404-27T= (n.404-27T=)
c.-71T= (n.-71T=)
c.59-27T= (n.59-27T=)
c.26-27T= (n.26-27T=)
18g.3456327dupCA2576446366TGIF1c.-44-27dup (n.-44-27dup)
c.17-27dup (n.17-27dup)
c.404-27dup (n.404-27dup)
c.-71dup (n.-71dup)
c.59-27dup (n.59-27dup)
c.26-27dup (n.26-27dup)
18g.3456328G>ACA2576446367TGIF1c.-44-26G>A (n.-44-26G>A)
c.17-26G>A (n.17-26G>A)
c.404-26G>A (n.404-26G>A)
c.-70G>A (n.-70G>A)
c.59-26G>A (n.59-26G>A)
c.26-26G>A (n.26-26G>A)
18g.3456328G>TCA2576446368TGIF1c.-44-26G>T (n.-44-26G>T)
c.17-26G>T (n.17-26G>T)
c.404-26G>T (n.404-26G>T)
c.-70G>T (n.-70G>T)
c.59-26G>T (n.59-26G>T)
c.26-26G>T (n.26-26G>T)
gnomAD v4
18g.3456330C>ACA8875853TGIF1c.-44-24C>A (n.-44-24C>A)
c.17-24C>A (n.17-24C>A)
c.404-24C>A (n.404-24C>A)
c.-68C>A (n.-68C>A)
c.59-24C>A (n.59-24C>A)
c.26-24C>A (n.26-24C>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456330C=CA2281035062TGIF1c.-44-24C= (n.-44-24C=)
c.17-24C= (n.17-24C=)
c.404-24C= (n.404-24C=)
c.-68C= (n.-68C=)
c.59-24C= (n.59-24C=)
c.26-24C= (n.26-24C=)
18g.3456331_3456337delCA2810783768TGIF1c.-44-23_-44-17del (n.-44-23_-44-17del)
c.17-23_17-17del (n.17-23_17-17del)
c.404-23_404-17del (n.404-23_404-17del)
c.-67_-61del (n.-67_-61del)
c.59-23_59-17del (n.59-23_59-17del)
c.26-23_26-17del (n.26-23_26-17del)
18g.3456331A>GCA2640856145TGIF1c.-44-23A>G (n.-44-23A>G)
c.17-23A>G (n.17-23A>G)
c.404-23A>G (n.404-23A>G)
c.-67A>G (n.-67A>G)
c.59-23A>G (n.59-23A>G)
c.26-23A>G (n.26-23A>G)
gnomAD v4
18g.3456332dupCA2640856146TGIF1c.-44-22dup (n.-44-22dup)
c.17-22dup (n.17-22dup)
c.404-22dup (n.404-22dup)
c.-66dup (n.-66dup)
c.59-22dup (n.59-22dup)
c.26-22dup (n.26-22dup)
gnomAD v4
18g.3456332A=CA2281035063TGIF1c.-44-22A= (n.-44-22A=)
c.17-22A= (n.17-22A=)
c.404-22A= (n.404-22A=)
c.-66A= (n.-66A=)
c.59-22A= (n.59-22A=)
c.26-22A= (n.26-22A=)
18g.3456332A>GCA628073887TGIF1c.-44-22A>G (n.-44-22A>G)
c.17-22A>G (n.17-22A>G)
c.404-22A>G (n.404-22A>G)
c.-66A>G (n.-66A>G)
c.59-22A>G (n.59-22A>G)
c.26-22A>G (n.26-22A>G)
dbSNP gnomAD v2 gnomAD v4
18g.3456333C>ACA2640856147TGIF1c.-44-21C>A (n.-44-21C>A)
c.17-21C>A (n.17-21C>A)
c.404-21C>A (n.404-21C>A)
c.-65C>A (n.-65C>A)
c.59-21C>A (n.59-21C>A)
c.26-21C>A (n.26-21C>A)
gnomAD v4
18g.3456333C=CA2281035064TGIF1c.-44-21C= (n.-44-21C=)
c.17-21C= (n.17-21C=)
c.404-21C= (n.404-21C=)
c.-65C= (n.-65C=)
c.59-21C= (n.59-21C=)
c.26-21C= (n.26-21C=)
18g.3456333C>GCA295566426TGIF1c.-44-21C>G (n.-44-21C>G)
c.17-21C>G (n.17-21C>G)
c.404-21C>G (n.404-21C>G)
c.-65C>G (n.-65C>G)
c.59-21C>G (n.59-21C>G)
c.26-21C>G (n.26-21C>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456335G>TCA2576446369TGIF1c.-44-19G>T (n.-44-19G>T)
c.17-19G>T (n.17-19G>T)
c.404-19G>T (n.404-19G>T)
c.-63G>T (n.-63G>T)
c.59-19G>T (n.59-19G>T)
c.26-19G>T (n.26-19G>T)
18g.3456338C=CA2281035065TGIF1c.-44-16C= (n.-44-16C=)
c.17-16C= (n.17-16C=)
c.404-16C= (n.404-16C=)
c.-60C= (n.-60C=)
c.59-16C= (n.59-16C=)
c.26-16C= (n.26-16C=)
18g.3456338C>TCA8875854TGIF1c.-44-16C>T (n.-44-16C>T)
c.17-16C>T (n.17-16C>T)
c.404-16C>T (n.404-16C>T)
c.-60C>T (n.-60C>T)
c.59-16C>T (n.59-16C>T)
c.26-16C>T (n.26-16C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456343T>ACA628483334TGIF1c.-44-11T>A (n.-44-11T>A)
c.17-11T>A (n.17-11T>A)
c.404-11T>A (n.404-11T>A)
c.-55T>A (n.-55T>A)
c.59-11T>A (n.59-11T>A)
c.26-11T>A (n.26-11T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456343T=CA2281035066TGIF1c.-44-11T= (n.-44-11T=)
c.17-11T= (n.17-11T=)
c.404-11T= (n.404-11T=)
c.-55T= (n.-55T=)
c.59-11T= (n.59-11T=)
c.26-11T= (n.26-11T=)
18g.3456344C>TCA2640856148TGIF1c.-44-10C>T (n.-44-10C>T)
c.17-10C>T (n.17-10C>T)
c.404-10C>T (n.404-10C>T)
c.-54C>T (n.-54C>T)
c.59-10C>T (n.59-10C>T)
c.26-10C>T (n.26-10C>T)
gnomAD v4
18g.3456345C=CA2281035067TGIF1c.-44-9C= (n.-44-9C=)
c.17-9C= (n.17-9C=)
c.404-9C= (n.404-9C=)
c.-53C= (n.-53C=)
c.59-9C= (n.59-9C=)
c.26-9C= (n.26-9C=)
18g.3456345C>TCA8875855TGIF1c.-44-9C>T (n.-44-9C>T)
c.17-9C>T (n.17-9C>T)
c.404-9C>T (n.404-9C>T)
c.-53C>T (n.-53C>T)
c.59-9C>T (n.59-9C>T)
c.26-9C>T (n.26-9C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456347T>CCA628483335TGIF1c.-44-7T>C (n.-44-7T>C)
c.17-7T>C (n.17-7T>C)
c.404-7T>C (n.404-7T>C)
c.-51T>C (n.-51T>C)
c.59-7T>C (n.59-7T>C)
c.26-7T>C (n.26-7T>C)
dbSNP gnomAD v2 gnomAD v4
18g.3456347T=CA2281035068TGIF1c.-44-7T= (n.-44-7T=)
c.17-7T= (n.17-7T=)
c.404-7T= (n.404-7T=)
c.-51T= (n.-51T=)
c.59-7T= (n.59-7T=)
c.26-7T= (n.26-7T=)
18g.3456348T>CCA2576446370TGIF1c.-44-6T>C (n.-44-6T>C)
c.17-6T>C (n.17-6T>C)
c.404-6T>C (n.404-6T>C)
c.-50T>C (n.-50T>C)
c.59-6T>C (n.59-6T>C)
c.26-6T>C (n.26-6T>C)
18g.3456349C=CA2281035069TGIF1c.-44-5C= (n.-44-5C=)
c.17-5C= (n.17-5C=)
c.404-5C= (n.404-5C=)
c.-49C= (n.-49C=)
c.59-5C= (n.59-5C=)
c.26-5C= (n.26-5C=)
18g.3456349C>TCA628483336TGIF1c.-44-5C>T (n.-44-5C>T)
c.17-5C>T (n.17-5C>T)
c.404-5C>T (n.404-5C>T)
c.-49C>T (n.-49C>T)
c.59-5C>T (n.59-5C>T)
c.26-5C>T (n.26-5C>T)
dbSNP gnomAD v2 gnomAD v4
18g.3456350C>GCA2640856149TGIF1c.-44-4C>G (n.-44-4C>G)
c.17-4C>G (n.17-4C>G)
c.404-4C>G (n.404-4C>G)
c.-48C>G (n.-48C>G)
c.59-4C>G (n.59-4C>G)
c.26-4C>G (n.26-4C>G)
gnomAD v4
18g.3456352A>CCA401722227TGIF1c.-44-2A>C (n.-44-2A>C)
c.17-2A>C (n.17-2A>C)
c.404-2A>C (n.404-2A>C)
c.-46A>C (n.-46A>C)
c.59-2A>C (n.59-2A>C)
c.26-2A>C (n.26-2A>C)
18g.3456352A>GCA401722228TGIF1c.-44-2A>G (n.-44-2A>G)
c.17-2A>G (n.17-2A>G)
c.404-2A>G (n.404-2A>G)
c.-46A>G (n.-46A>G)
c.59-2A>G (n.59-2A>G)
c.26-2A>G (n.26-2A>G)
18g.3456352A>TCA401722229TGIF1c.-44-2A>T (n.-44-2A>T)
c.17-2A>T (n.17-2A>T)
c.404-2A>T (n.404-2A>T)
c.-46A>T (n.-46A>T)
c.59-2A>T (n.59-2A>T)
c.26-2A>T (n.26-2A>T)
18g.3456353G>ACA401722230TGIF1c.-44-1G>A (n.-44-1G>A)
c.17-1G>A (n.17-1G>A)
c.404-1G>A (n.404-1G>A)
c.-45G>A (n.-45G>A)
c.59-1G>A (n.59-1G>A)
c.26-1G>A (n.26-1G>A)
gnomAD v4
18g.3456353G>CCA401722231TGIF1c.-44-1G>C (n.-44-1G>C)
c.17-1G>C (n.17-1G>C)
c.404-1G>C (n.404-1G>C)
c.-45G>C (n.-45G>C)
c.59-1G>C (n.59-1G>C)
c.26-1G>C (n.26-1G>C)
18g.3456353G>TCA401722232TGIF1c.-44-1G>T (n.-44-1G>T)
c.17-1G>T (n.17-1G>T)
c.404-1G>T (n.404-1G>T)
c.-45G>T (n.-45G>T)
c.59-1G>T (n.59-1G>T)
c.26-1G>T (n.26-1G>T)
18g.3456354G>ACA401722233TGIF1c.-44G>A (n.-44G>A)
c.17G>A (p.Gly6Asp)
c.404G>A (p.Gly135Asp)
c.59G>A (p.Gly20Asp)
c.26G>A (p.Ser9Asn)
18g.3456354G>CCA401722234TGIF1c.-44G>C (n.-44G>C)
c.17G>C (p.Gly6Ala)
c.404G>C (p.Gly135Ala)
c.59G>C (p.Gly20Ala)
c.26G>C (p.Ser9Thr)
18g.3456354G>TCA401722235TGIF1c.-44G>T (n.-44G>T)
c.17G>T (p.Gly6Val)
c.404G>T (p.Gly135Val)
c.59G>T (p.Gly20Val)
c.26G>T (p.Ser9Ile)
gnomAD v4
18g.3456355T>ACA502810689TGIF1c.-43T>A (n.-43T>A)
c.18T>A (p.Gly6=)
c.405T>A (p.Gly135=)
c.60T>A (p.Gly20=)
c.27T>A (p.Ser9Arg)
18g.3456355T>CCA502810690TGIF1c.-43T>C (n.-43T>C)
c.18T>C (p.Gly6=)
c.405T>C (p.Gly135=)
c.60T>C (p.Gly20=)
c.27T>C (p.Ser9=)
gnomAD v4
18g.3456355T>GCA502810691TGIF1c.-43T>G (n.-43T>G)
c.18T>G (p.Gly6=)
c.405T>G (p.Gly135=)
c.60T>G (p.Gly20=)
c.27T>G (p.Ser9Arg)
18g.3456356A>CCA401722236TGIF1c.-42A>C (n.-42A>C)
c.19A>C (p.Ile7Leu)
c.406A>C (p.Ile136Leu)
c.61A>C (p.Ile21Leu)
c.28A>C (p.Ile10Leu)
18g.3456356A>GCA401722237TGIF1c.-42A>G (n.-42A>G)
c.19A>G (p.Ile7Val)
c.406A>G (p.Ile136Val)
c.61A>G (p.Ile21Val)
c.28A>G (p.Ile10Val)
18g.3456356A>TCA401722238TGIF1c.-42A>T (n.-42A>T)
c.19A>T (p.Ile7Phe)
c.406A>T (p.Ile136Phe)
c.61A>T (p.Ile21Phe)
c.28A>T (p.Ile10Phe)
18g.3456357T>ACA401722239TGIF1c.-41T>A (n.-41T>A)
c.20T>A (p.Ile7Asn)
c.407T>A (p.Ile136Asn)
c.62T>A (p.Ile21Asn)
c.29T>A (p.Ile10Asn)
18g.3456357T>CCA401722241TGIF1c.-41T>C (n.-41T>C)
c.20T>C (p.Ile7Thr)
c.407T>C (p.Ile136Thr)
c.62T>C (p.Ile21Thr)
c.29T>C (p.Ile10Thr)
18g.3456357T>GCA401722240TGIF1c.-41T>G (n.-41T>G)
c.20T>G (p.Ile7Ser)
c.407T>G (p.Ile136Ser)
c.62T>G (p.Ile21Ser)
c.29T>G (p.Ile10Ser)
18g.3456358T>ACA502810693TGIF1c.-40T>A (n.-40T>A)
c.21T>A (p.Ile7=)
c.408T>A (p.Ile136=)
c.63T>A (p.Ile21=)
c.30T>A (p.Ile10=)
18g.3456358T>CCA502810694TGIF1c.-40T>C (n.-40T>C)
c.21T>C (p.Ile7=)
c.408T>C (p.Ile136=)
c.63T>C (p.Ile21=)
c.30T>C (p.Ile10=)
18g.3456358T>GCA401722242TGIF1c.-40T>G (n.-40T>G)
c.21T>G (p.Ile7Met)
c.408T>G (p.Ile136Met)
c.63T>G (p.Ile21Met)
c.30T>G (p.Ile10Met)
18g.3456359delCA2695227163TGIF1c.-39del (n.-39del)
c.22del (p.Val8LeufsTer?)
c.409del (p.Val137LeufsTer?)
c.64del (p.Val22LeufsTer?)
c.31del (p.Val11LeufsTer?)
18g.3456359G>ACA401722243TGIF1c.-39G>A (n.-39G>A)
c.22G>A (p.Val8Ile)
c.409G>A (p.Val137Ile)
c.64G>A (p.Val22Ile)
c.31G>A (p.Val11Ile)
18g.3456359G>CCA401722244TGIF1c.-39G>C (n.-39G>C)
c.22G>C (p.Val8Leu)
c.409G>C (p.Val137Leu)
c.64G>C (p.Val22Leu)
c.31G>C (p.Val11Leu)
18g.3456359G>TCA401722245TGIF1c.-39G>T (n.-39G>T)
c.22G>T (p.Val8Phe)
c.409G>T (p.Val137Phe)
c.64G>T (p.Val22Phe)
c.31G>T (p.Val11Phe)
18g.3456360T>ACA401722246TGIF1c.-38T>A (n.-38T>A)
c.23T>A (p.Val8Asp)
c.410T>A (p.Val137Asp)
c.65T>A (p.Val22Asp)
c.32T>A (p.Val11Asp)
18g.3456360T>CCA401722247TGIF1c.-38T>C (n.-38T>C)
c.23T>C (p.Val8Ala)
c.410T>C (p.Val137Ala)
c.65T>C (p.Val22Ala)
c.32T>C (p.Val11Ala)
dbSNP gnomAD v2 gnomAD v4
18g.3456360T>GCA401722248TGIF1c.-38T>G (n.-38T>G)
c.23T>G (p.Val8Gly)
c.410T>G (p.Val137Gly)
c.65T>G (p.Val22Gly)
c.32T>G (p.Val11Gly)
COSMIC COSMIC
18g.3456360T=CA2281035070TGIF1c.-38T= (n.-38T=)
c.23T= (p.Val8=)
c.410T= (p.Val137=)
c.65T= (p.Val22=)
c.32T= (p.Val11=)
18g.3456361dupCA2640856150TGIF1c.-37dup (n.-37dup)
c.24dup (p.Ala9CysfsTer6)
c.411dup (p.Ala138CysfsTer6)
c.66dup (p.Ala23CysfsTer6)
c.33dup (p.Ala12CysfsTer6)
gnomAD v4
18g.3456361T>ACA502810696TGIF1c.-37T>A (n.-37T>A)
c.24T>A (p.Val8=)
c.411T>A (p.Val137=)
c.66T>A (p.Val22=)
c.33T>A (p.Val11=)
18g.3456361T>CCA502810697TGIF1c.-37T>C (n.-37T>C)
c.24T>C (p.Val8=)
c.411T>C (p.Val137=)
c.66T>C (p.Val22=)
c.33T>C (p.Val11=)
18g.3456361T>GCA502810698TGIF1c.-37T>G (n.-37T>G)
c.24T>G (p.Val8=)
c.411T>G (p.Val137=)
c.66T>G (p.Val22=)
c.33T>G (p.Val11=)
18g.3456362G>ACA401722249TGIF1c.-36G>A (n.-36G>A)
c.25G>A (p.Ala9Thr)
c.412G>A (p.Ala138Thr)
c.67G>A (p.Ala23Thr)
c.34G>A (p.Ala12Thr)
gnomAD v4
18g.3456362G>CCA401722250TGIF1c.-36G>C (n.-36G>C)
c.25G>C (p.Ala9Pro)
c.412G>C (p.Ala138Pro)
c.67G>C (p.Ala23Pro)
c.34G>C (p.Ala12Pro)
18g.3456362G>TCA401722251TGIF1c.-36G>T (n.-36G>T)
c.25G>T (p.Ala9Ser)
c.412G>T (p.Ala138Ser)
c.67G>T (p.Ala23Ser)
c.34G>T (p.Ala12Ser)
18g.3456363C>ACA401722253TGIF1c.-35C>A (n.-35C>A)
c.26C>A (p.Ala9Glu)
c.413C>A (p.Ala138Glu)
c.68C>A (p.Ala23Glu)
c.35C>A (p.Ala12Glu)
18g.3456363C>GCA401722254TGIF1c.-35C>G (n.-35C>G)
c.26C>G (p.Ala9Gly)
c.413C>G (p.Ala138Gly)
c.68C>G (p.Ala23Gly)
c.35C>G (p.Ala12Gly)
18g.3456363C>TCA401722252TGIF1c.-35C>T (n.-35C>T)
c.26C>T (p.Ala9Val)
c.413C>T (p.Ala138Val)
c.68C>T (p.Ala23Val)
c.35C>T (p.Ala12Val)
18g.3456364A=CA2281035071TGIF1c.-34A= (n.-34A=)
c.27A= (p.Ala9=)
c.414A= (p.Ala138=)
c.69A= (p.Ala23=)
c.36A= (p.Ala12=)
18g.3456364A>CCA502810699TGIF1c.-34A>C (n.-34A>C)
c.27A>C (p.Ala9=)
c.414A>C (p.Ala138=)
c.69A>C (p.Ala23=)
c.36A>C (p.Ala12=)
18g.3456364A>GCA502810700TGIF1c.-34A>G (n.-34A>G)
c.27A>G (p.Ala9=)
c.414A>G (p.Ala138=)
c.69A>G (p.Ala23=)
c.36A>G (p.Ala12=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456364A>TCA502810701TGIF1c.-34A>T (n.-34A>T)
c.27A>T (p.Ala9=)
c.414A>T (p.Ala138=)
c.69A>T (p.Ala23=)
c.36A>T (p.Ala12=)
18g.3456365G>ACA401722255TGIF1c.-33G>A (n.-33G>A)
c.28G>A (p.Ala10Thr)
c.415G>A (p.Ala139Thr)
c.70G>A (p.Ala24Thr)
c.37G>A (p.Ala13Thr)
18g.3456365G>CCA401722256TGIF1c.-33G>C (n.-33G>C)
c.28G>C (p.Ala10Pro)
c.415G>C (p.Ala139Pro)
c.70G>C (p.Ala24Pro)
c.37G>C (p.Ala13Pro)
18g.3456365G>TCA401722257TGIF1c.-33G>T (n.-33G>T)
c.28G>T (p.Ala10Ser)
c.415G>T (p.Ala139Ser)
c.70G>T (p.Ala24Ser)
c.37G>T (p.Ala13Ser)
18g.3456366C>ACA401722258TGIF1c.-32C>A (n.-32C>A)
c.29C>A (p.Ala10Glu)
c.416C>A (p.Ala139Glu)
c.71C>A (p.Ala24Glu)
c.38C>A (p.Ala13Glu)
18g.3456366C=CA2281035072TGIF1c.-32C= (n.-32C=)
c.29C= (p.Ala10=)
c.416C= (p.Ala139=)
c.71C= (p.Ala24=)
c.38C= (p.Ala13=)
18g.3456366C>GCA401722259TGIF1c.-32C>G (n.-32C>G)
c.29C>G (p.Ala10Gly)
c.416C>G (p.Ala139Gly)
c.71C>G (p.Ala24Gly)
c.38C>G (p.Ala13Gly)
dbSNP
18g.3456366C>TCA401722260TGIF1c.-32C>T (n.-32C>T)
c.29C>T (p.Ala10Val)
c.416C>T (p.Ala139Val)
c.71C>T (p.Ala24Val)
c.38C>T (p.Ala13Val)
18g.3456367A>CCA502810703TGIF1c.-31A>C (n.-31A>C)
c.30A>C (p.Ala10=)
c.417A>C (p.Ala139=)
c.72A>C (p.Ala24=)
c.39A>C (p.Ala13=)
18g.3456367A>GCA502810704TGIF1c.-31A>G (n.-31A>G)
c.30A>G (p.Ala10=)
c.417A>G (p.Ala139=)
c.72A>G (p.Ala24=)
c.39A>G (p.Ala13=)
18g.3456367A>TCA502810705TGIF1c.-31A>T (n.-31A>T)
c.30A>T (p.Ala10=)
c.417A>T (p.Ala139=)
c.72A>T (p.Ala24=)
c.39A>T (p.Ala13=)
18g.3456368T>ACA8875856TGIF1c.-30T>A (n.-30T>A)
c.31T>A (p.Ser11Thr)
c.418T>A (p.Ser140Thr)
c.73T>A (p.Ser25Thr)
c.40T>A (p.Ser14Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456368T>CCA295566440TGIF1c.-30T>C (n.-30T>C)
c.31T>C (p.Ser11Pro)
c.418T>C (p.Ser140Pro)
c.73T>C (p.Ser25Pro)
c.40T>C (p.Ser14Pro)
dbSNP
18g.3456368T>GCA401722261TGIF1c.-30T>G (n.-30T>G)
c.31T>G (p.Ser11Ala)
c.418T>G (p.Ser140Ala)
c.73T>G (p.Ser25Ala)
c.40T>G (p.Ser14Ala)
18g.3456368T=CA2281035073TGIF1c.-30T= (n.-30T=)
c.31T= (p.Ser11=)
c.418T= (p.Ser140=)
c.73T= (p.Ser25=)
c.40T= (p.Ser14=)
18g.3456369C>ACA401722262TGIF1c.-29C>A (n.-29C>A)
c.32C>A (p.Ser11Tyr)
c.419C>A (p.Ser140Tyr)
c.74C>A (p.Ser25Tyr)
c.41C>A (p.Ser14Tyr)
18g.3456369C>GCA401722263TGIF1c.-29C>G (n.-29C>G)
c.32C>G (p.Ser11Cys)
c.419C>G (p.Ser140Cys)
c.74C>G (p.Ser25Cys)
c.41C>G (p.Ser14Cys)
18g.3456369C>TCA401722264TGIF1c.-29C>T (n.-29C>T)
c.32C>T (p.Ser11Phe)
c.419C>T (p.Ser140Phe)
c.74C>T (p.Ser25Phe)
c.41C>T (p.Ser14Phe)
18g.3456370T>ACA502810709TGIF1c.-28T>A (n.-28T>A)
c.33T>A (p.Ser11=)
c.420T>A (p.Ser140=)
c.75T>A (p.Ser25=)
c.42T>A (p.Ser14=)
18g.3456370T>CCA502810710TGIF1c.-28T>C (n.-28T>C)
c.33T>C (p.Ser11=)
c.420T>C (p.Ser140=)
c.75T>C (p.Ser25=)
c.42T>C (p.Ser14=)
dbSNP gnomAD v2 gnomAD v4
18g.3456370T>GCA502810711TGIF1c.-28T>G (n.-28T>G)
c.33T>G (p.Ser11=)
c.420T>G (p.Ser140=)
c.75T>G (p.Ser25=)
c.42T>G (p.Ser14=)
18g.3456370T=CA2281035074TGIF1c.-28T= (n.-28T=)
c.33T= (p.Ser11=)
c.420T= (p.Ser140=)
c.75T= (p.Ser25=)
c.42T= (p.Ser14=)
18g.3456371G>ACA401722266TGIF1c.-27G>A (n.-27G>A)
c.34G>A (p.Gly12Ser)
c.421G>A (p.Gly141Ser)
c.76G>A (p.Gly26Ser)
c.43G>A (p.Gly15Ser)
18g.3456371G>CCA401722267TGIF1c.-27G>C (n.-27G>C)
c.34G>C (p.Gly12Arg)
c.421G>C (p.Gly141Arg)
c.76G>C (p.Gly26Arg)
c.43G>C (p.Gly15Arg)
18g.3456371G>TCA401722265TGIF1c.-27G>T (n.-27G>T)
c.34G>T (p.Gly12Cys)
c.421G>T (p.Gly141Cys)
c.76G>T (p.Gly26Cys)
c.43G>T (p.Gly15Cys)
18g.3456372G>ACA8875857TGIF1c.-26G>A (n.-26G>A)
c.35G>A (p.Gly12Asp)
c.422G>A (p.Gly141Asp)
c.77G>A (p.Gly26Asp)
c.44G>A (p.Gly15Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456372G>CCA401722268TGIF1c.-26G>C (n.-26G>C)
c.35G>C (p.Gly12Ala)
c.422G>C (p.Gly141Ala)
c.77G>C (p.Gly26Ala)
c.44G>C (p.Gly15Ala)
18g.3456372G=CA2281035075TGIF1c.-26G= (n.-26G=)
c.35G= (p.Gly12=)
c.422G= (p.Gly141=)
c.77G= (p.Gly26=)
c.44G= (p.Gly15=)
18g.3456372G>TCA401722269TGIF1c.-26G>T (n.-26G>T)
c.35G>T (p.Gly12Val)
c.422G>T (p.Gly141Val)
c.77G>T (p.Gly26Val)
c.44G>T (p.Gly15Val)
dbSNP gnomAD v3 gnomAD v4
18g.3456373C>ACA502810713TGIF1c.-25C>A (n.-25C>A)
c.36C>A (p.Gly12=)
c.423C>A (p.Gly141=)
c.78C>A (p.Gly26=)
c.45C>A (p.Gly15=)
18g.3456373C>GCA502810714TGIF1c.-25C>G (n.-25C>G)
c.36C>G (p.Gly12=)
c.423C>G (p.Gly141=)
c.78C>G (p.Gly26=)
c.45C>G (p.Gly15=)
18g.3456373C>TCA502810715TGIF1c.-25C>T (n.-25C>T)
c.36C>T (p.Gly12=)
c.423C>T (p.Gly141=)
c.78C>T (p.Gly26=)
c.45C>T (p.Gly15=)
18g.3456374A>CCA401722270TGIF1c.-24A>C (n.-24A>C)
c.37A>C (p.Ser13Arg)
c.424A>C (p.Ser142Arg)
c.79A>C (p.Ser27Arg)
c.46A>C (p.Ser16Arg)
18g.3456374A>GCA401722271TGIF1c.-24A>G (n.-24A>G)
c.37A>G (p.Ser13Gly)
c.424A>G (p.Ser142Gly)
c.79A>G (p.Ser27Gly)
c.46A>G (p.Ser16Gly)
gnomAD v4
18g.3456374A>TCA401722272TGIF1c.-24A>T (n.-24A>T)
c.37A>T (p.Ser13Cys)
c.424A>T (p.Ser142Cys)
c.79A>T (p.Ser27Cys)
c.46A>T (p.Ser16Cys)
gnomAD v4
18g.3456375G>ACA401722273TGIF1c.-23G>A (n.-23G>A)
c.38G>A (p.Ser13Asn)
c.425G>A (p.Ser142Asn)
c.80G>A (p.Ser27Asn)
c.47G>A (p.Ser16Asn)
18g.3456375G>CCA401722275TGIF1c.-23G>C (n.-23G>C)
c.38G>C (p.Ser13Thr)
c.425G>C (p.Ser142Thr)
c.80G>C (p.Ser27Thr)
c.47G>C (p.Ser16Thr)
18g.3456375G>TCA401722274TGIF1c.-23G>T (n.-23G>T)
c.38G>T (p.Ser13Ile)
c.425G>T (p.Ser142Ile)
c.80G>T (p.Ser27Ile)
c.47G>T (p.Ser16Ile)
18g.3456376T>ACA401722276TGIF1c.-22T>A (n.-22T>A)
c.39T>A (p.Ser13Arg)
c.426T>A (p.Ser142Arg)
c.81T>A (p.Ser27Arg)
c.48T>A (p.Ser16Arg)
18g.3456376T>CCA502810719TGIF1c.-22T>C (n.-22T>C)
c.39T>C (p.Ser13=)
c.426T>C (p.Ser142=)
c.81T>C (p.Ser27=)
c.48T>C (p.Ser16=)
18g.3456376T>GCA401722277TGIF1c.-22T>G (n.-22T>G)
c.39T>G (p.Ser13Arg)
c.426T>G (p.Ser142Arg)
c.81T>G (p.Ser27Arg)
c.48T>G (p.Ser16Arg)
18g.3456377G>ACA401722278TGIF1c.-21G>A (n.-21G>A)
c.40G>A (p.Glu14Lys)
c.427G>A (p.Glu143Lys)
c.82G>A (p.Glu28Lys)
c.49G>A (p.Glu17Lys)
dbSNP gnomAD v2 gnomAD v4
18g.3456377G>CCA401722279TGIF1c.-21G>C (n.-21G>C)
c.40G>C (p.Glu14Gln)
c.427G>C (p.Glu143Gln)
c.82G>C (p.Glu28Gln)
c.49G>C (p.Glu17Gln)
18g.3456377G=CA2281035076TGIF1c.-21G= (n.-21G=)
c.40G= (p.Glu14=)
c.427G= (p.Glu143=)
c.82G= (p.Glu28=)
c.49G= (p.Glu17=)
18g.3456377G>TCA401722280TGIF1c.-21G>T (n.-21G>T)
c.40G>T (p.Glu14Ter)
c.427G>T (p.Glu143Ter)
c.82G>T (p.Glu28Ter)
c.49G>T (p.Glu17Ter)
18g.3456378A>CCA401722283TGIF1c.-20A>C (n.-20A>C)
c.41A>C (p.Glu14Ala)
c.428A>C (p.Glu143Ala)
c.83A>C (p.Glu28Ala)
c.50A>C (p.Glu17Ala)
18g.3456378A>GCA401722282TGIF1c.-20A>G (n.-20A>G)
c.41A>G (p.Glu14Gly)
c.428A>G (p.Glu143Gly)
c.83A>G (p.Glu28Gly)
c.50A>G (p.Glu17Gly)
18g.3456378A>TCA401722281TGIF1c.-20A>T (n.-20A>T)
c.41A>T (p.Glu14Val)
c.428A>T (p.Glu143Val)
c.83A>T (p.Glu28Val)
c.50A>T (p.Glu17Val)
18g.3456379G>ACA502810723TGIF1c.-19G>A (n.-19G>A)
c.42G>A (p.Glu14=)
c.429G>A (p.Glu143=)
c.84G>A (p.Glu28=)
c.51G>A (p.Glu17=)
ClinVar dbSNP
18g.3456379G>CCA401722285TGIF1c.-19G>C (n.-19G>C)
c.42G>C (p.Glu14Asp)
c.429G>C (p.Glu143Asp)
c.84G>C (p.Glu28Asp)
c.51G>C (p.Glu17Asp)
18g.3456379G=CA2281035077TGIF1c.-19G= (n.-19G=)
c.42G= (p.Glu14=)
c.429G= (p.Glu143=)
c.84G= (p.Glu28=)
c.51G= (p.Glu17=)
18g.3456379G>TCA401722284TGIF1c.-19G>T (n.-19G>T)
c.42G>T (p.Glu14Asp)
c.429G>T (p.Glu143Asp)
c.84G>T (p.Glu28Asp)
c.51G>T (p.Glu17Asp)
gnomAD v4
18g.3456380A>CCA401722287TGIF1c.-18A>C (n.-18A>C)
c.43A>C (p.Thr15Pro)
c.430A>C (p.Thr144Pro)
c.85A>C (p.Thr29Pro)
c.52A>C (p.Thr18Pro)
18g.3456380A>GCA401722286TGIF1c.-18A>G (n.-18A>G)
c.43A>G (p.Thr15Ala)
c.430A>G (p.Thr144Ala)
c.85A>G (p.Thr29Ala)
c.52A>G (p.Thr18Ala)
18g.3456380A>TCA401722288TGIF1c.-18A>T (n.-18A>T)
c.43A>T (p.Thr15Ser)
c.430A>T (p.Thr144Ser)
c.85A>T (p.Thr29Ser)
c.52A>T (p.Thr18Ser)
18g.3456381C>ACA401722289TGIF1c.-17C>A (n.-17C>A)
c.44C>A (p.Thr15Asn)
c.431C>A (p.Thr144Asn)
c.86C>A (p.Thr29Asn)
c.53C>A (p.Thr18Asn)
18g.3456381C>GCA401722291TGIF1c.-17C>G (n.-17C>G)
c.44C>G (p.Thr15Ser)
c.431C>G (p.Thr144Ser)
c.86C>G (p.Thr29Ser)
c.53C>G (p.Thr18Ser)
18g.3456381C>TCA401722290TGIF1c.-17C>T (n.-17C>T)
c.44C>T (p.Thr15Ile)
c.431C>T (p.Thr144Ile)
c.86C>T (p.Thr29Ile)
c.53C>T (p.Thr18Ile)
gnomAD v4
18g.3456382T>ACA502810726TGIF1c.-16T>A (n.-16T>A)
c.45T>A (p.Thr15=)
c.432T>A (p.Thr144=)
c.87T>A (p.Thr29=)
c.54T>A (p.Thr18=)
18g.3456382T>CCA502810727TGIF1c.-16T>C (n.-16T>C)
c.45T>C (p.Thr15=)
c.432T>C (p.Thr144=)
c.87T>C (p.Thr29=)
c.54T>C (p.Thr18=)
18g.3456382T>GCA502810728TGIF1c.-16T>G (n.-16T>G)
c.45T>G (p.Thr15=)
c.432T>G (p.Thr144=)
c.87T>G (p.Thr29=)
c.54T>G (p.Thr18=)
18g.3456383G>ACA401722292TGIF1c.-15G>A (n.-15G>A)
c.46G>A (p.Glu16Lys)
c.433G>A (p.Glu145Lys)
c.88G>A (p.Glu30Lys)
c.55G>A (p.Glu19Lys)
18g.3456383G>CCA401722293TGIF1c.-15G>C (n.-15G>C)
c.46G>C (p.Glu16Gln)
c.433G>C (p.Glu145Gln)
c.88G>C (p.Glu30Gln)
c.55G>C (p.Glu19Gln)
COSMIC
18g.3456383G>TCA401722294TGIF1c.-15G>T (n.-15G>T)
c.46G>T (p.Glu16Ter)
c.433G>T (p.Glu145Ter)
c.88G>T (p.Glu30Ter)
c.55G>T (p.Glu19Ter)
18g.3456384A>CCA401722295TGIF1c.-14A>C (n.-14A>C)
c.47A>C (p.Glu16Ala)
c.434A>C (p.Glu145Ala)
c.89A>C (p.Glu30Ala)
c.56A>C (p.Glu19Ala)
18g.3456384A>GCA401722296TGIF1c.-14A>G (n.-14A>G)
c.47A>G (p.Glu16Gly)
c.434A>G (p.Glu145Gly)
c.89A>G (p.Glu30Gly)
c.56A>G (p.Glu19Gly)
18g.3456384A>TCA401722297TGIF1c.-14A>T (n.-14A>T)
c.47A>T (p.Glu16Val)
c.434A>T (p.Glu145Val)
c.89A>T (p.Glu30Val)
c.56A>T (p.Glu19Val)
18g.3456385G>ACA8875858TGIF1c.-13G>A (n.-13G>A)
c.48G>A (p.Glu16=)
c.435G>A (p.Glu145=)
c.90G>A (p.Glu30=)
c.57G>A (p.Glu19=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456385G>CCA401722298TGIF1c.-13G>C (n.-13G>C)
c.48G>C (p.Glu16Asp)
c.435G>C (p.Glu145Asp)
c.90G>C (p.Glu30Asp)
c.57G>C (p.Glu19Asp)
18g.3456385G=CA2281035078TGIF1c.-13G= (n.-13G=)
c.48G= (p.Glu16=)
c.435G= (p.Glu145=)
c.90G= (p.Glu30=)
c.57G= (p.Glu19=)
18g.3456385G>TCA8875859TGIF1c.-13G>T (n.-13G>T)
c.48G>T (p.Glu16Asp)
c.435G>T (p.Glu145Asp)
c.90G>T (p.Glu30Asp)
c.57G>T (p.Glu19Asp)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456386G>ACA401722299TGIF1c.-12G>A (n.-12G>A)
c.49G>A (p.Asp17Asn)
c.436G>A (p.Asp146Asn)
c.91G>A (p.Asp31Asn)
c.58G>A (p.Asp20Asn)
18g.3456386G>CCA401722300TGIF1c.-12G>C (n.-12G>C)
c.49G>C (p.Asp17His)
c.436G>C (p.Asp146His)
c.91G>C (p.Asp31His)
c.58G>C (p.Asp20His)
18g.3456386G>TCA401722301TGIF1c.-12G>T (n.-12G>T)
c.49G>T (p.Asp17Tyr)
c.436G>T (p.Asp146Tyr)
c.91G>T (p.Asp31Tyr)
c.58G>T (p.Asp20Tyr)
18g.3456387A>CCA401722304TGIF1c.-11A>C (n.-11A>C)
c.50A>C (p.Asp17Ala)
c.437A>C (p.Asp146Ala)
c.92A>C (p.Asp31Ala)
c.59A>C (p.Asp20Ala)
18g.3456387A>GCA401722302TGIF1c.-11A>G (n.-11A>G)
c.50A>G (p.Asp17Gly)
c.437A>G (p.Asp146Gly)
c.92A>G (p.Asp31Gly)
c.59A>G (p.Asp20Gly)
18g.3456387A>TCA401722303TGIF1c.-11A>T (n.-11A>T)
c.50A>T (p.Asp17Val)
c.437A>T (p.Asp146Val)
c.92A>T (p.Asp31Val)
c.59A>T (p.Asp20Val)
18g.3456388T>ACA401722305TGIF1c.-10T>A (n.-10T>A)
c.51T>A (p.Asp17Glu)
c.438T>A (p.Asp146Glu)
c.93T>A (p.Asp31Glu)
c.60T>A (p.Asp20Glu)
18g.3456388T>CCA502810730TGIF1c.-10T>C (n.-10T>C)
c.51T>C (p.Asp17=)
c.438T>C (p.Asp146=)
c.93T>C (p.Asp31=)
c.60T>C (p.Asp20=)
18g.3456388T>GCA401722306TGIF1c.-10T>G (n.-10T>G)
c.51T>G (p.Asp17Glu)
c.438T>G (p.Asp146Glu)
c.93T>G (p.Asp31Glu)
c.60T>G (p.Asp20Glu)
18g.3456389G>ACA401722307TGIF1c.-9G>A (n.-9G>A)
c.52G>A (p.Glu18Lys)
c.439G>A (p.Glu147Lys)
c.94G>A (p.Glu32Lys)
c.61G>A (p.Glu21Lys)
18g.3456389G>CCA401722308TGIF1c.-9G>C (n.-9G>C)
c.52G>C (p.Glu18Gln)
c.439G>C (p.Glu147Gln)
c.94G>C (p.Glu32Gln)
c.61G>C (p.Glu21Gln)
18g.3456389G>TCA401722309TGIF1c.-9G>T (n.-9G>T)
c.52G>T (p.Glu18Ter)
c.439G>T (p.Glu147Ter)
c.94G>T (p.Glu32Ter)
c.61G>T (p.Glu21Ter)
18g.3456390A=CA2281035079TGIF1c.-8A= (n.-8A=)
c.53A= (p.Glu18=)
c.440A= (p.Glu147=)
c.95A= (p.Glu32=)
c.62A= (p.Glu21=)
18g.3456390A>CCA401722310TGIF1c.-8A>C (n.-8A>C)
c.53A>C (p.Glu18Ala)
c.440A>C (p.Glu147Ala)
c.95A>C (p.Glu32Ala)
c.62A>C (p.Glu21Ala)
18g.3456390A>GCA401722311TGIF1c.-8A>G (n.-8A>G)
c.53A>G (p.Glu18Gly)
c.440A>G (p.Glu147Gly)
c.95A>G (p.Glu32Gly)
c.62A>G (p.Glu21Gly)
18g.3456390A>TCA401722312TGIF1c.-8A>T (n.-8A>T)
c.53A>T (p.Glu18Val)
c.440A>T (p.Glu147Val)
c.95A>T (p.Glu32Val)
c.62A>T (p.Glu21Val)
dbSNP
18g.3456391G>ACA502810731TGIF1c.-7G>A (n.-7G>A)
c.54G>A (p.Glu18=)
c.441G>A (p.Glu147=)
c.96G>A (p.Glu32=)
c.63G>A (p.Glu21=)
gnomAD v4
18g.3456391G>CCA401722313TGIF1c.-7G>C (n.-7G>C)
c.54G>C (p.Glu18Asp)
c.441G>C (p.Glu147Asp)
c.96G>C (p.Glu32Asp)
c.63G>C (p.Glu21Asp)
dbSNP
18g.3456391G>TCA401722314TGIF1c.-7G>T (n.-7G>T)
c.54G>T (p.Glu18Asp)
c.441G>T (p.Glu147Asp)
c.96G>T (p.Glu32Asp)
c.63G>T (p.Glu21Asp)
18g.3456392G>ACA401722317TGIF1c.-6G>A (n.-6G>A)
c.55G>A (p.Asp19Asn)
c.442G>A (p.Asp148Asn)
c.97G>A (p.Asp33Asn)
c.64G>A (p.Asp22Asn)
18g.3456392G>CCA401722316TGIF1c.-6G>C (n.-6G>C)
c.55G>C (p.Asp19His)
c.442G>C (p.Asp148His)
c.97G>C (p.Asp33His)
c.64G>C (p.Asp22His)
18g.3456392G>TCA401722315TGIF1c.-6G>T (n.-6G>T)
c.55G>T (p.Asp19Tyr)
c.442G>T (p.Asp148Tyr)
c.97G>T (p.Asp33Tyr)
c.64G>T (p.Asp22Tyr)
18g.3456393A>CCA401722318TGIF1c.-5A>C (n.-5A>C)
c.56A>C (p.Asp19Ala)
c.443A>C (p.Asp148Ala)
c.98A>C (p.Asp33Ala)
c.65A>C (p.Asp22Ala)
18g.3456393A>GCA401722319TGIF1c.-5A>G (n.-5A>G)
c.56A>G (p.Asp19Gly)
c.443A>G (p.Asp148Gly)
c.98A>G (p.Asp33Gly)
c.65A>G (p.Asp22Gly)
18g.3456393A>TCA401722320TGIF1c.-5A>T (n.-5A>T)
c.56A>T (p.Asp19Val)
c.443A>T (p.Asp148Val)
c.98A>T (p.Asp33Val)
c.65A>T (p.Asp22Val)
18g.3456394C>ACA401722321TGIF1c.-4C>A (n.-4C>A)
c.57C>A (p.Asp19Glu)
c.444C>A (p.Asp148Glu)
c.99C>A (p.Asp33Glu)
c.66C>A (p.Asp22Glu)
18g.3456394C=CA2281035080TGIF1c.-4C= (n.-4C=)
c.57C= (p.Asp19=)
c.444C= (p.Asp148=)
c.99C= (p.Asp33=)
c.66C= (p.Asp22=)
18g.3456394C>GCA401722322TGIF1c.-4C>G (n.-4C>G)
c.57C>G (p.Asp19Glu)
c.444C>G (p.Asp148Glu)
c.99C>G (p.Asp33Glu)
c.66C>G (p.Asp22Glu)
18g.3456394C>TCA8875860TGIF1c.-4C>T (n.-4C>T)
c.57C>T (p.Asp19=)
c.444C>T (p.Asp148=)
c.99C>T (p.Asp33=)
c.66C>T (p.Asp22=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456395A=CA2281035081TGIF1c.-3A= (n.-3A=)
c.58A= (p.Ser20=)
c.445A= (p.Ser149=)
c.100A= (p.Ser34=)
c.67A= (p.Ser23=)
18g.3456395A>CCA401722323TGIF1c.-3A>C (n.-3A>C)
c.58A>C (p.Ser20Arg)
c.445A>C (p.Ser149Arg)
c.100A>C (p.Ser34Arg)
c.67A>C (p.Ser23Arg)
18g.3456395A>GCA8875861TGIF1c.-3A>G (n.-3A>G)
c.58A>G (p.Ser20Gly)
c.445A>G (p.Ser149Gly)
c.100A>G (p.Ser34Gly)
c.67A>G (p.Ser23Gly)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456395A>TCA401722324TGIF1c.-3A>T (n.-3A>T)
c.58A>T (p.Ser20Cys)
c.445A>T (p.Ser149Cys)
c.100A>T (p.Ser34Cys)
c.67A>T (p.Ser23Cys)
18g.3456396G>ACA401722325TGIF1c.-2G>A (n.-2G>A)
c.59G>A (p.Ser20Asn)
c.446G>A (p.Ser149Asn)
c.101G>A (p.Ser34Asn)
c.68G>A (p.Ser23Asn)
18g.3456396G>CCA401722326TGIF1c.-2G>C (n.-2G>C)
c.59G>C (p.Ser20Thr)
c.446G>C (p.Ser149Thr)
c.101G>C (p.Ser34Thr)
c.68G>C (p.Ser23Thr)
18g.3456396G>TCA401722327TGIF1c.-2G>T (n.-2G>T)
c.59G>T (p.Ser20Ile)
c.446G>T (p.Ser149Ile)
c.101G>T (p.Ser34Ile)
c.68G>T (p.Ser23Ile)
18g.3456397C>ACA401722329TGIF1c.-1C>A (n.-1C>A)
c.60C>A (p.Ser20Arg)
c.447C>A (p.Ser149Arg)
c.102C>A (p.Ser34Arg)
c.69C>A (p.Ser23Arg)
18g.3456397C=CA2281035082TGIF1c.-1C= (n.-1C=)
c.60C= (p.Ser20=)
c.447C= (p.Ser149=)
c.102C= (p.Ser34=)
c.69C= (p.Ser23=)
18g.3456397C>GCA401722328TGIF1c.-1C>G (n.-1C>G)
c.60C>G (p.Ser20Arg)
c.447C>G (p.Ser149Arg)
c.102C>G (p.Ser34Arg)
c.69C>G (p.Ser23Arg)
18g.3456397C>TCA8875862TGIF1c.-1C>T (n.-1C>T)
c.60C>T (p.Ser20=)
c.447C>T (p.Ser149=)
c.102C>T (p.Ser34=)
c.69C>T (p.Ser23=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
18g.3456398A=CA2281035083TGIF1c.1A= (p.Met1=)
c.61A= (p.Met21=)
c.448A= (p.Met150=)
c.103A= (p.Met35=)
c.70A= (p.Met24=)
18g.3456398A>CCA401722330TGIF1c.1A>C (p.Met1Leu)
c.61A>C (p.Met21Leu)
c.448A>C (p.Met150Leu)
c.103A>C (p.Met35Leu)
c.70A>C (p.Met24Leu)
18g.3456398A>GCA295566477TGIF1c.1A>G (p.Met1Val)
c.61A>G (p.Met21Val)
c.448A>G (p.Met150Val)
c.103A>G (p.Met35Val)
c.70A>G (p.Met24Val)
dbSNP gnomAD v4
18g.3456398A>TCA401722331TGIF1c.1A>T (p.Met1Leu)
c.61A>T (p.Met21Leu)
c.448A>T (p.Met150Leu)
c.103A>T (p.Met35Leu)
c.70A>T (p.Met24Leu)
18g.3456399T>ACA401722332TGIF1c.2T>A (p.Met1Lys)
c.62T>A (p.Met21Lys)
c.449T>A (p.Met150Lys)
c.104T>A (p.Met35Lys)
c.71T>A (p.Met24Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456399T>CCA401722333TGIF1c.2T>C (p.Met1Thr)
c.62T>C (p.Met21Thr)
c.449T>C (p.Met150Thr)
c.104T>C (p.Met35Thr)
c.71T>C (p.Met24Thr)
18g.3456399T>GCA401722334TGIF1c.2T>G (p.Met1Arg)
c.62T>G (p.Met21Arg)
c.449T>G (p.Met150Arg)
c.104T>G (p.Met35Arg)
c.71T>G (p.Met24Arg)
18g.3456399T=CA2281035084TGIF1c.2T= (p.Met1=)
c.62T= (p.Met21=)
c.449T= (p.Met150=)
c.104T= (p.Met35=)
c.71T= (p.Met24=)
18g.3456400G>ACA401722335TGIF1c.3G>A (p.Met1Ile)
c.63G>A (p.Met21Ile)
c.450G>A (p.Met150Ile)
c.105G>A (p.Met35Ile)
c.72G>A (p.Met24Ile)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
18g.3456400G>CCA401722336TGIF1c.3G>C (p.Met1Ile)
c.63G>C (p.Met21Ile)
c.450G>C (p.Met150Ile)
c.105G>C (p.Met35Ile)
c.72G>C (p.Met24Ile)
18g.3456400G=CA2281035085TGIF1c.3G= (p.Met1=)
c.63G= (p.Met21=)
c.450G= (p.Met150=)
c.105G= (p.Met35=)
c.72G= (p.Met24=)
18g.3456400G>TCA401722337TGIF1c.3G>T (p.Met1Ile)
c.63G>T (p.Met21Ile)
c.450G>T (p.Met150Ile)
c.105G>T (p.Met35Ile)
c.72G>T (p.Met24Ile)
18g.3456401G>ACA401722338TGIF1c.4G>A (p.Asp2Asn)
c.64G>A (p.Asp22Asn)
c.451G>A (p.Asp151Asn)
c.106G>A (p.Asp36Asn)
c.73G>A (p.Asp25Asn)
18g.3456401G>CCA401722339TGIF1c.4G>C (p.Asp2His)
c.64G>C (p.Asp22His)
c.451G>C (p.Asp151His)
c.106G>C (p.Asp36His)
c.73G>C (p.Asp25His)
18g.3456401G>TCA401722340TGIF1c.4G>T (p.Asp2Tyr)
c.64G>T (p.Asp22Tyr)
c.451G>T (p.Asp151Tyr)
c.106G>T (p.Asp36Tyr)
c.73G>T (p.Asp25Tyr)
18g.3456402A=CA2281035086TGIF1c.5A= (p.Asp2=)
c.65A= (p.Asp22=)
c.452A= (p.Asp151=)
c.107A= (p.Asp36=)
c.74A= (p.Asp25=)
18g.3456402A>CCA401722342TGIF1c.5A>C (p.Asp2Ala)
c.65A>C (p.Asp22Ala)
c.452A>C (p.Asp151Ala)
c.107A>C (p.Asp36Ala)
c.74A>C (p.Asp25Ala)
dbSNP gnomAD v4
18g.3456402A>GCA401722343TGIF1c.5A>G (p.Asp2Gly)
c.65A>G (p.Asp22Gly)
c.452A>G (p.Asp151Gly)
c.107A>G (p.Asp36Gly)
c.74A>G (p.Asp25Gly)
18g.3456402A>TCA401722341TGIF1c.5A>T (p.Asp2Val)
c.65A>T (p.Asp22Val)
c.452A>T (p.Asp151Val)
c.107A>T (p.Asp36Val)
c.74A>T (p.Asp25Val)
18g.3456403C>ACA401722345TGIF1c.6C>A (p.Asp2Glu)
c.66C>A (p.Asp22Glu)
c.453C>A (p.Asp151Glu)
c.108C>A (p.Asp36Glu)
c.75C>A (p.Asp25Glu)
18g.3456403C>GCA401722344TGIF1c.6C>G (p.Asp2Glu)
c.66C>G (p.Asp22Glu)
c.453C>G (p.Asp151Glu)
c.108C>G (p.Asp36Glu)
c.75C>G (p.Asp25Glu)
18g.3456403C>TCA502810732TGIF1c.6C>T (p.Asp2=)
c.66C>T (p.Asp22=)
c.453C>T (p.Asp151=)
c.108C>T (p.Asp36=)
c.75C>T (p.Asp25=)
18g.3456404A=CA2281035087TGIF1c.7A= (p.Ile3=)
c.67A= (p.Ile23=)
c.454A= (p.Ile152=)
c.109A= (p.Ile37=)
c.76A= (p.Ile26=)
18g.3456404A>CCA401722346TGIF1c.7A>C (p.Ile3Leu)
c.67A>C (p.Ile23Leu)
c.454A>C (p.Ile152Leu)
c.109A>C (p.Ile37Leu)
c.76A>C (p.Ile26Leu)
18g.3456404A>GCA401722347TGIF1c.7A>G (p.Ile3Val)
c.67A>G (p.Ile23Val)
c.454A>G (p.Ile152Val)
c.109A>G (p.Ile37Val)
c.76A>G (p.Ile26Val)
dbSNP gnomAD v2 gnomAD v4
18g.3456404A>TCA401722348TGIF1c.7A>T (p.Ile3Phe)
c.67A>T (p.Ile23Phe)
c.454A>T (p.Ile152Phe)
c.109A>T (p.Ile37Phe)
c.76A>T (p.Ile26Phe)
18g.3456404_3456408delinsTCA645599935TGIF1c.7_11delinsT (p.Ile3SerfsTer?)
c.67_71delinsT (p.Ile23SerfsTer?)
c.454_458delinsT (p.Ile152SerfsTer?)
c.109_113delinsT (p.Ile37SerfsTer?)
c.76_80delinsT (p.Ile26SerfsTer?)
COSMIC
18g.3456405T>ACA401722349TGIF1c.8T>A (p.Ile3Asn)
c.68T>A (p.Ile23Asn)
c.455T>A (p.Ile152Asn)
c.110T>A (p.Ile37Asn)
c.77T>A (p.Ile26Asn)
18g.3456405T>CCA401722350TGIF1c.8T>C (p.Ile3Thr)
c.68T>C (p.Ile23Thr)
c.455T>C (p.Ile152Thr)
c.110T>C (p.Ile37Thr)
c.77T>C (p.Ile26Thr)
18g.3456405T>GCA401722351TGIF1c.8T>G (p.Ile3Ser)
c.68T>G (p.Ile23Ser)
c.455T>G (p.Ile152Ser)
c.110T>G (p.Ile37Ser)
c.77T>G (p.Ile26Ser)
18g.3456408_3456423delCA645599936TGIF1c.11_26del (p.Pro4HisfsTer?)
c.71_86del (p.Pro24HisfsTer?)
c.458_473del (p.Pro153HisfsTer?)
c.113_128del (p.Pro38HisfsTer?)
c.80_95del (p.Pro27HisfsTer?)
COSMIC COSMIC
18g.3456406T>ACA502810733TGIF1c.9T>A (p.Ile3=)
c.69T>A (p.Ile23=)
c.456T>A (p.Ile152=)
c.111T>A (p.Ile37=)
c.78T>A (p.Ile26=)
18g.3456406T>CCA502810734TGIF1c.9T>C (p.Ile3=)
c.69T>C (p.Ile23=)
c.456T>C (p.Ile152=)
c.111T>C (p.Ile37=)
c.78T>C (p.Ile26=)
18g.3456406T>GCA401722352TGIF1c.9T>G (p.Ile3Met)
c.69T>G (p.Ile23Met)
c.456T>G (p.Ile152Met)
c.111T>G (p.Ile37Met)
c.78T>G (p.Ile26Met)
18g.3456407C>ACA401722353TGIF1c.10C>A (p.Pro4Thr)
c.70C>A (p.Pro24Thr)
c.457C>A (p.Pro153Thr)
c.112C>A (p.Pro38Thr)
c.79C>A (p.Pro27Thr)
dbSNP gnomAD v4
18g.3456407C=CA2281035088TGIF1c.10C= (p.Pro4=)
c.70C= (p.Pro24=)
c.457C= (p.Pro153=)
c.112C= (p.Pro38=)
c.79C= (p.Pro27=)
18g.3456407C>GCA401722355TGIF1c.10C>G (p.Pro4Ala)
c.70C>G (p.Pro24Ala)
c.457C>G (p.Pro153Ala)
c.112C>G (p.Pro38Ala)
c.79C>G (p.Pro27Ala)
dbSNP gnomAD v3 gnomAD v4
18g.3456407C>TCA401722356TGIF1c.10C>T (p.Pro4Ser)
c.70C>T (p.Pro24Ser)
c.457C>T (p.Pro153Ser)
c.112C>T (p.Pro38Ser)
c.79C>T (p.Pro27Ser)
18g.3456408C>ACA401722357TGIF1c.11C>A (p.Pro4His)
c.71C>A (p.Pro24His)
c.458C>A (p.Pro153His)
c.113C>A (p.Pro38His)
c.80C>A (p.Pro27His)
18g.3456408C>GCA401722358TGIF1c.11C>G (p.Pro4Arg)
c.71C>G (p.Pro24Arg)
c.458C>G (p.Pro153Arg)
c.113C>G (p.Pro38Arg)
c.80C>G (p.Pro27Arg)
18g.3456408C>TCA401722359TGIF1c.11C>T (p.Pro4Leu)
c.71C>T (p.Pro24Leu)
c.458C>T (p.Pro153Leu)
c.113C>T (p.Pro38Leu)
c.80C>T (p.Pro27Leu)
18g.3456409C>ACA502810735TGIF1c.12C>A (p.Pro4=)
c.72C>A (p.Pro24=)
c.459C>A (p.Pro153=)
c.114C>A (p.Pro38=)
c.81C>A (p.Pro27=)
18g.3456409C>GCA502810736TGIF1c.12C>G (p.Pro4=)
c.72C>G (p.Pro24=)
c.459C>G (p.Pro153=)
c.114C>G (p.Pro38=)
c.81C>G (p.Pro27=)
18g.3456409C>TCA502810737TGIF1c.12C>T (p.Pro4=)
c.72C>T (p.Pro24=)
c.459C>T (p.Pro153=)
c.114C>T (p.Pro38=)
c.81C>T (p.Pro27=)
18g.3456410T>ACA401722360TGIF1c.13T>A (p.Leu5Met)
c.73T>A (p.Leu25Met)
c.460T>A (p.Leu154Met)
c.115T>A (p.Leu39Met)
c.82T>A (p.Leu28Met)
18g.3456410T>CCA502810738TGIF1c.13T>C (p.Leu5=)
c.73T>C (p.Leu25=)
c.460T>C (p.Leu154=)
c.115T>C (p.Leu39=)
c.82T>C (p.Leu28=)
18g.3456410T>GCA401722361TGIF1c.13T>G (p.Leu5Val)
c.73T>G (p.Leu25Val)
c.460T>G (p.Leu154Val)
c.115T>G (p.Leu39Val)
c.82T>G (p.Leu28Val)
18g.3456411T>ACA401722362TGIF1c.14T>A (p.Leu5Ter)
c.74T>A (p.Leu25Ter)
c.461T>A (p.Leu154Ter)
c.116T>A (p.Leu39Ter)
c.83T>A (p.Leu28Ter)
18g.3456411T>CCA401722363TGIF1c.14T>C (p.Leu5Ser)
c.74T>C (p.Leu25Ser)
c.461T>C (p.Leu154Ser)
c.116T>C (p.Leu39Ser)
c.83T>C (p.Leu28Ser)
18g.3456411T>GCA401722364TGIF1c.14T>G (p.Leu5Trp)
c.74T>G (p.Leu25Trp)
c.461T>G (p.Leu154Trp)
c.116T>G (p.Leu39Trp)
c.83T>G (p.Leu28Trp)
gnomAD v4
18g.3456412G>ACA8875863TGIF1c.15G>A (p.Leu5=)
c.75G>A (p.Leu25=)
c.462G>A (p.Leu154=)
c.117G>A (p.Leu39=)
c.84G>A (p.Leu28=)
dbSNP ExAC gnomAD v2 gnomAD v4
18g.3456412G>CCA401722365TGIF1c.15G>C (p.Leu5Phe)
c.75G>C (p.Leu25Phe)
c.462G>C (p.Leu154Phe)
c.117G>C (p.Leu39Phe)
c.84G>C (p.Leu28Phe)
18g.3456412G=CA2281035089TGIF1c.15G= (p.Leu5=)
c.75G= (p.Leu25=)
c.462G= (p.Leu154=)
c.117G= (p.Leu39=)
c.84G= (p.Leu28=)
18g.3456412G>TCA401722366TGIF1c.15G>T (p.Leu5Phe)
c.75G>T (p.Leu25Phe)
c.462G>T (p.Leu154Phe)
c.117G>T (p.Leu39Phe)
c.84G>T (p.Leu28Phe)
18g.3456413G>ACA401722367TGIF1c.16G>A (p.Asp6Asn)
c.76G>A (p.Asp26Asn)
c.463G>A (p.Asp155Asn)
c.118G>A (p.Asp40Asn)
c.85G>A (p.Asp29Asn)
18g.3456413G>CCA401722368TGIF1c.16G>C (p.Asp6His)
c.76G>C (p.Asp26His)
c.463G>C (p.Asp155His)
c.118G>C (p.Asp40His)
c.85G>C (p.Asp29His)
18g.3456413G>TCA401722369TGIF1c.16G>T (p.Asp6Tyr)
c.76G>T (p.Asp26Tyr)
c.463G>T (p.Asp155Tyr)
c.118G>T (p.Asp40Tyr)
c.85G>T (p.Asp29Tyr)
18g.3456414A>CCA401722370TGIF1c.17A>C (p.Asp6Ala)
c.77A>C (p.Asp26Ala)
c.464A>C (p.Asp155Ala)
c.119A>C (p.Asp40Ala)
c.86A>C (p.Asp29Ala)
COSMIC COSMIC
18g.3456414A>GCA401722371TGIF1c.17A>G (p.Asp6Gly)
c.77A>G (p.Asp26Gly)
c.464A>G (p.Asp155Gly)
c.119A>G (p.Asp40Gly)
c.86A>G (p.Asp29Gly)
gnomAD v4
18g.3456414A>TCA401722372TGIF1c.17A>T (p.Asp6Val)
c.77A>T (p.Asp26Val)
c.464A>T (p.Asp155Val)
c.119A>T (p.Asp40Val)
c.86A>T (p.Asp29Val)
gnomAD v4
18g.3456415C>ACA401722374TGIF1c.18C>A (p.Asp6Glu)
c.78C>A (p.Asp26Glu)
c.465C>A (p.Asp155Glu)
c.120C>A (p.Asp40Glu)
c.87C>A (p.Asp29Glu)
18g.3456415C=CA2281035090TGIF1c.18C= (p.Asp6=)
c.78C= (p.Asp26=)
c.465C= (p.Asp155=)
c.120C= (p.Asp40=)
c.87C= (p.Asp29=)
18g.3456415C>GCA401722373TGIF1c.18C>G (p.Asp6Glu)
c.78C>G (p.Asp26Glu)
c.465C>G (p.Asp155Glu)
c.120C>G (p.Asp40Glu)
c.87C>G (p.Asp29Glu)
18g.3456415C>TCA502810739TGIF1c.18C>T (p.Asp6=)
c.78C>T (p.Asp26=)
c.465C>T (p.Asp155=)
c.120C>T (p.Asp40=)
c.87C>T (p.Asp29=)
dbSNP gnomAD v3 gnomAD v4
18g.3456416C>ACA401722375TGIF1c.19C>A (p.Leu7Ile)
c.79C>A (p.Leu27Ile)
c.466C>A (p.Leu156Ile)
c.121C>A (p.Leu41Ile)
c.88C>A (p.Leu30Ile)
18g.3456416C>GCA401722376TGIF1c.19C>G (p.Leu7Val)
c.79C>G (p.Leu27Val)
c.466C>G (p.Leu156Val)
c.121C>G (p.Leu41Val)
c.88C>G (p.Leu30Val)
18g.3456416C>TCA401722377TGIF1c.19C>T (p.Leu7Phe)
c.79C>T (p.Leu27Phe)
c.466C>T (p.Leu156Phe)
c.121C>T (p.Leu41Phe)
c.88C>T (p.Leu30Phe)
18g.3456419_3456422delCA645599937TGIF1c.22_25del (p.Ser8HisfsTer?)
c.82_85del (p.Ser28HisfsTer?)
c.469_472del (p.Ser157HisfsTer?)
c.124_127del (p.Ser42HisfsTer?)
c.91_94del (p.Ser31HisfsTer?)
COSMIC COSMIC
18g.3456417T>ACA401722378TGIF1c.20T>A (p.Leu7His)
c.80T>A (p.Leu27His)
c.467T>A (p.Leu156His)
c.122T>A (p.Leu41His)
c.89T>A (p.Leu30His)
18g.3456417T>CCA401722379TGIF1c.20T>C (p.Leu7Pro)
c.80T>C (p.Leu27Pro)
c.467T>C (p.Leu156Pro)
c.122T>C (p.Leu41Pro)
c.89T>C (p.Leu30Pro)
dbSNP
18g.3456417T>GCA401722380TGIF1c.20T>G (p.Leu7Arg)
c.80T>G (p.Leu27Arg)
c.467T>G (p.Leu156Arg)
c.122T>G (p.Leu41Arg)
c.89T>G (p.Leu30Arg)
COSMIC COSMIC
18g.3456417T=CA2281035091TGIF1c.20T= (p.Leu7=)
c.80T= (p.Leu27=)
c.467T= (p.Leu156=)
c.122T= (p.Leu41=)
c.89T= (p.Leu30=)
18g.3456418T>ACA502810740TGIF1c.21T>A (p.Leu7=)
c.81T>A (p.Leu27=)
c.468T>A (p.Leu156=)
c.123T>A (p.Leu41=)
c.90T>A (p.Leu30=)
18g.3456418T>CCA502810741TGIF1c.21T>C (p.Leu7=)
c.81T>C (p.Leu27=)
c.468T>C (p.Leu156=)
c.123T>C (p.Leu41=)
c.90T>C (p.Leu30=)
18g.3456418T>GCA502810742TGIF1c.21T>G (p.Leu7=)
c.81T>G (p.Leu27=)
c.468T>G (p.Leu156=)
c.123T>G (p.Leu41=)
c.90T>G (p.Leu30=)
18g.3456419T>ACA401722383TGIF1c.22T>A (p.Ser8Thr)
c.82T>A (p.Ser28Thr)
c.469T>A (p.Ser157Thr)
c.124T>A (p.Ser42Thr)
c.91T>A (p.Ser31Thr)
18g.3456419T>CCA401722382TGIF1c.22T>C (p.Ser8Pro)
c.82T>C (p.Ser28Pro)
c.469T>C (p.Ser157Pro)
c.124T>C (p.Ser42Pro)
c.91T>C (p.Ser31Pro)
dbSNP
18g.3456419T>GCA401722381TGIF1c.22T>G (p.Ser8Ala)
c.82T>G (p.Ser28Ala)
c.469T>G (p.Ser157Ala)
c.124T>G (p.Ser42Ala)
c.91T>G (p.Ser31Ala)
18g.3456419T=CA2281035092TGIF1c.22T= (p.Ser8=)
c.82T= (p.Ser28=)
c.469T= (p.Ser157=)
c.124T= (p.Ser42=)
c.91T= (p.Ser31=)
18g.3456420C>ACA401722385TGIF1c.23C>A (p.Ser8Tyr)
c.83C>A (p.Ser28Tyr)
c.470C>A (p.Ser157Tyr)
c.125C>A (p.Ser42Tyr)
c.92C>A (p.Ser31Tyr)
18g.3456420C=CA2281035093TGIF1c.23C= (p.Ser8=)
c.83C= (p.Ser28=)
c.470C= (p.Ser157=)
c.125C= (p.Ser42=)
c.92C= (p.Ser31=)
18g.3456420C>GCA254024TGIF1c.23C>G (p.Ser8Cys)
c.83C>G (p.Ser28Cys)
c.470C>G (p.Ser157Cys)
c.125C>G (p.Ser42Cys)
c.92C>G (p.Ser31Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
18g.3456420C>TCA401722386TGIF1c.23C>T (p.Ser8Phe)
c.83C>T (p.Ser28Phe)
c.470C>T (p.Ser157Phe)
c.125C>T (p.Ser42Phe)
c.92C>T (p.Ser31Phe)
18g.3456421T>ACA502810743TGIF1c.24T>A (p.Ser8=)
c.84T>A (p.Ser28=)
c.471T>A (p.Ser157=)
c.126T>A (p.Ser42=)
c.93T>A (p.Ser31=)
18g.3456421T>CCA502810744TGIF1c.24T>C (p.Ser8=)
c.84T>C (p.Ser28=)
c.471T>C (p.Ser157=)
c.126T>C (p.Ser42=)
c.93T>C (p.Ser31=)
18g.3456421T>GCA502810745TGIF1c.24T>G (p.Ser8=)
c.84T>G (p.Ser28=)
c.471T>G (p.Ser157=)
c.126T>G (p.Ser42=)
c.93T>G (p.Ser31=)
18g.3456422T>ACA401722387TGIF1c.25T>A (p.Ser9Thr)
c.85T>A (p.Ser29Thr)
c.472T>A (p.Ser158Thr)
c.127T>A (p.Ser43Thr)
c.94T>A (p.Ser32Thr)
18g.3456422T>CCA401722388TGIF1c.25T>C (p.Ser9Pro)
c.85T>C (p.Ser29Pro)
c.472T>C (p.Ser158Pro)
c.127T>C (p.Ser43Pro)
c.94T>C (p.Ser32Pro)
18g.3456422T>GCA401722389TGIF1c.25T>G (p.Ser9Ala)
c.85T>G (p.Ser29Ala)
c.472T>G (p.Ser158Ala)
c.127T>G (p.Ser43Ala)
c.94T>G (p.Ser32Ala)
18g.3456423C>ACA401722390TGIF1c.26C>A (p.Ser9Ter)
c.86C>A (p.Ser29Ter)
c.473C>A (p.Ser158Ter)
c.128C>A (p.Ser43Ter)
c.95C>A (p.Ser32Ter)
18g.3456423C>GCA401722392TGIF1c.26C>G (p.Ser9Ter)
c.86C>G (p.Ser29Ter)
c.473C>G (p.Ser158Ter)
c.128C>G (p.Ser43Ter)
c.95C>G (p.Ser32Ter)
18g.3456423C>TCA401722391TGIF1c.26C>T (p.Ser9Leu)
c.86C>T (p.Ser29Leu)
c.473C>T (p.Ser158Leu)
c.128C>T (p.Ser43Leu)
c.95C>T (p.Ser32Leu)
18g.3456424A=CA2281035094TGIF1c.27A= (p.Ser9=)
c.87A= (p.Ser29=)
c.474A= (p.Ser158=)
c.129A= (p.Ser43=)
c.96A= (p.Ser32=)
18g.3456424A>CCA502810746TGIF1c.27A>C (p.Ser9=)
c.87A>C (p.Ser29=)
c.474A>C (p.Ser158=)
c.129A>C (p.Ser43=)
c.96A>C (p.Ser32=)
gnomAD v4
18g.3456424A>GCA502810747TGIF1c.27A>G (p.Ser9=)
c.87A>G (p.Ser29=)
c.474A>G (p.Ser158=)
c.129A>G (p.Ser43=)
c.96A>G (p.Ser32=)
18g.3456424A>TCA8875864TGIF1c.27A>T (p.Ser9=)
c.87A>T (p.Ser29=)
c.474A>T (p.Ser158=)
c.129A>T (p.Ser43=)
c.96A>T (p.Ser32=)
dbSNP ExAC gnomAD v2
18g.3456425T>ACA401722393TGIF1c.28T>A (p.Ser10Thr)
c.88T>A (p.Ser30Thr)
c.475T>A (p.Ser159Thr)
c.130T>A (p.Ser44Thr)
c.97T>A (p.Ser33Thr)
gnomAD v4
18g.3456425T>CCA401722394TGIF1c.28T>C (p.Ser10Pro)
c.88T>C (p.Ser30Pro)
c.475T>C (p.Ser159Pro)
c.130T>C (p.Ser44Pro)
c.97T>C (p.Ser33Pro)
18g.3456425T>GCA401722395TGIF1c.28T>G (p.Ser10Ala)
c.88T>G (p.Ser30Ala)
c.475T>G (p.Ser159Ala)
c.130T>G (p.Ser44Ala)
c.97T>G (p.Ser33Ala)
18g.3456426C>ACA401722396TGIF1c.29C>A (p.Ser10Tyr)
c.89C>A (p.Ser30Tyr)
c.476C>A (p.Ser159Tyr)
c.131C>A (p.Ser44Tyr)
c.98C>A (p.Ser33Tyr)
18g.3456426C>GCA401722397TGIF1c.29C>G (p.Ser10Cys)
c.89C>G (p.Ser30Cys)
c.476C>G (p.Ser159Cys)
c.131C>G (p.Ser44Cys)
c.98C>G (p.Ser33Cys)
18g.3456426C>TCA401722398TGIF1c.29C>T (p.Ser10Phe)
c.89C>T (p.Ser30Phe)
c.476C>T (p.Ser159Phe)
c.131C>T (p.Ser44Phe)
c.98C>T (p.Ser33Phe)
18g.3456427C>ACA502810748TGIF1c.30C>A (p.Ser10=)
c.90C>A (p.Ser30=)
c.477C>A (p.Ser159=)
c.132C>A (p.Ser44=)
c.99C>A (p.Ser33=)
18g.3456427C=CA2281035095TGIF1c.30C= (p.Ser10=)
c.90C= (p.Ser30=)
c.477C= (p.Ser159=)
c.132C= (p.Ser44=)
c.99C= (p.Ser33=)
18g.3456427C>GCA502810749TGIF1c.30C>G (p.Ser10=)
c.90C>G (p.Ser30=)
c.477C>G (p.Ser159=)
c.132C>G (p.Ser44=)
c.99C>G (p.Ser33=)
18g.3456427C>TCA8875865TGIF1c.30C>T (p.Ser10=)
c.90C>T (p.Ser30=)
c.477C>T (p.Ser159=)
c.132C>T (p.Ser44=)
c.99C>T (p.Ser33=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched