Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.66541838C>ACA480703135GRIP1c.474G>T (p.Leu158=)
c.249G>T (p.Leu83=)
c.81G>T (p.Leu27=)
c.327G>T (p.Leu109=)
c.168G>T (p.Leu56=)
c.252G>T (p.Leu84=)
c.171G>T (p.Leu57=)
12g.66541838C>GCA480703136GRIP1c.474G>C (p.Leu158=)
c.249G>C (p.Leu83=)
c.81G>C (p.Leu27=)
c.327G>C (p.Leu109=)
c.168G>C (p.Leu56=)
c.252G>C (p.Leu84=)
c.171G>C (p.Leu57=)
12g.66541838C>TCA480703137GRIP1c.474G>A (p.Leu158=)
c.249G>A (p.Leu83=)
c.81G>A (p.Leu27=)
c.327G>A (p.Leu109=)
c.168G>A (p.Leu56=)
c.252G>A (p.Leu84=)
c.171G>A (p.Leu57=)
12g.66541839A>CCA385680182GRIP1c.473T>G (p.Leu158Arg)
c.248T>G (p.Leu83Arg)
c.80T>G (p.Leu27Arg)
c.326T>G (p.Leu109Arg)
c.167T>G (p.Leu56Arg)
c.251T>G (p.Leu84Arg)
c.170T>G (p.Leu57Arg)
12g.66541839A>GCA385680183GRIP1c.473T>C (p.Leu158Pro)
c.248T>C (p.Leu83Pro)
c.80T>C (p.Leu27Pro)
c.326T>C (p.Leu109Pro)
c.167T>C (p.Leu56Pro)
c.251T>C (p.Leu84Pro)
c.170T>C (p.Leu57Pro)
12g.66541839A>TCA385680184GRIP1c.473T>A (p.Leu158Gln)
c.248T>A (p.Leu83Gln)
c.80T>A (p.Leu27Gln)
c.326T>A (p.Leu109Gln)
c.167T>A (p.Leu56Gln)
c.251T>A (p.Leu84Gln)
c.170T>A (p.Leu57Gln)
12g.66541840G>ACA480703138GRIP1c.472C>T (p.Leu158=)
c.247C>T (p.Leu83=)
c.79C>T (p.Leu27=)
c.325C>T (p.Leu109=)
c.166C>T (p.Leu56=)
c.250C>T (p.Leu84=)
c.169C>T (p.Leu57=)
12g.66541840G>CCA6674711GRIP1c.472C>G (p.Leu158Val)
c.247C>G (p.Leu83Val)
c.79C>G (p.Leu27Val)
c.325C>G (p.Leu109Val)
c.166C>G (p.Leu56Val)
c.250C>G (p.Leu84Val)
c.169C>G (p.Leu57Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541840G=CA2043081297GRIP1c.472C= (p.Leu158=)
c.247C= (p.Leu83=)
c.79C= (p.Leu27=)
c.325C= (p.Leu109=)
c.166C= (p.Leu56=)
c.250C= (p.Leu84=)
c.169C= (p.Leu57=)
12g.66541840G>TCA385680185GRIP1c.472C>A (p.Leu158Met)
c.247C>A (p.Leu83Met)
c.79C>A (p.Leu27Met)
c.325C>A (p.Leu109Met)
c.166C>A (p.Leu56Met)
c.250C>A (p.Leu84Met)
c.169C>A (p.Leu57Met)
12g.66541841A>CCA385680186GRIP1c.471T>G (p.Asn157Lys)
c.246T>G (p.Asn82Lys)
c.78T>G (p.Asn26Lys)
c.324T>G (p.Asn108Lys)
c.165T>G (p.Asn55Lys)
c.249T>G (p.Asn83Lys)
c.168T>G (p.Asn56Lys)
12g.66541841A>GCA480703139GRIP1c.471T>C (p.Asn157=)
c.246T>C (p.Asn82=)
c.78T>C (p.Asn26=)
c.324T>C (p.Asn108=)
c.165T>C (p.Asn55=)
c.249T>C (p.Asn83=)
c.168T>C (p.Asn56=)
12g.66541841A>TCA385680187GRIP1c.471T>A (p.Asn157Lys)
c.246T>A (p.Asn82Lys)
c.78T>A (p.Asn26Lys)
c.324T>A (p.Asn108Lys)
c.165T>A (p.Asn55Lys)
c.249T>A (p.Asn83Lys)
c.168T>A (p.Asn56Lys)
12g.66541842T>ACA385680190GRIP1c.470A>T (p.Asn157Ile)
c.245A>T (p.Asn82Ile)
c.77A>T (p.Asn26Ile)
c.323A>T (p.Asn108Ile)
c.164A>T (p.Asn55Ile)
c.248A>T (p.Asn83Ile)
c.167A>T (p.Asn56Ile)
12g.66541842T>CCA385680188GRIP1c.470A>G (p.Asn157Ser)
c.245A>G (p.Asn82Ser)
c.77A>G (p.Asn26Ser)
c.323A>G (p.Asn108Ser)
c.164A>G (p.Asn55Ser)
c.248A>G (p.Asn83Ser)
c.167A>G (p.Asn56Ser)
12g.66541842T>GCA385680189GRIP1c.470A>C (p.Asn157Thr)
c.245A>C (p.Asn82Thr)
c.77A>C (p.Asn26Thr)
c.323A>C (p.Asn108Thr)
c.164A>C (p.Asn55Thr)
c.248A>C (p.Asn83Thr)
c.167A>C (p.Asn56Thr)
12g.66541843T>ACA385680191GRIP1c.469A>T (p.Asn157Tyr)
c.244A>T (p.Asn82Tyr)
c.76A>T (p.Asn26Tyr)
c.322A>T (p.Asn108Tyr)
c.163A>T (p.Asn55Tyr)
c.247A>T (p.Asn83Tyr)
c.166A>T (p.Asn56Tyr)
12g.66541843T>CCA385680192GRIP1c.469A>G (p.Asn157Asp)
c.244A>G (p.Asn82Asp)
c.76A>G (p.Asn26Asp)
c.322A>G (p.Asn108Asp)
c.163A>G (p.Asn55Asp)
c.247A>G (p.Asn83Asp)
c.166A>G (p.Asn56Asp)
12g.66541843T>GCA385680193GRIP1c.469A>C (p.Asn157His)
c.244A>C (p.Asn82His)
c.76A>C (p.Asn26His)
c.322A>C (p.Asn108His)
c.163A>C (p.Asn55His)
c.247A>C (p.Asn83His)
c.166A>C (p.Asn56His)
 gnomAD v4
12g.66541844A>CCA480703140GRIP1c.468T>G (p.Ser156=)
c.243T>G (p.Ser81=)
c.75T>G (p.Ser25=)
c.321T>G (p.Ser107=)
c.162T>G (p.Ser54=)
c.246T>G (p.Ser82=)
c.165T>G (p.Ser55=)
12g.66541844A>GCA480703141GRIP1c.468T>C (p.Ser156=)
c.243T>C (p.Ser81=)
c.75T>C (p.Ser25=)
c.321T>C (p.Ser107=)
c.162T>C (p.Ser54=)
c.246T>C (p.Ser82=)
c.165T>C (p.Ser55=)
12g.66541844A>TCA480703142GRIP1c.468T>A (p.Ser156=)
c.243T>A (p.Ser81=)
c.75T>A (p.Ser25=)
c.321T>A (p.Ser107=)
c.162T>A (p.Ser54=)
c.246T>A (p.Ser82=)
c.165T>A (p.Ser55=)
12g.66541845delCA2575217934GRIP1c.467del (p.Ser156LeufsTer24)
c.242del (p.Ser81LeufsTer24)
c.74del (p.Ser25LeufsTer24)
c.320del (p.Ser107LeufsTer24)
c.161del (p.Ser54LeufsTer24)
c.245del (p.Ser82LeufsTer24)
c.164del (p.Ser55LeufsTer24)
12g.66541845G>ACA385680194GRIP1c.467C>T (p.Ser156Phe)
c.242C>T (p.Ser81Phe)
c.74C>T (p.Ser25Phe)
c.320C>T (p.Ser107Phe)
c.161C>T (p.Ser54Phe)
c.245C>T (p.Ser82Phe)
c.164C>T (p.Ser55Phe)
12g.66541845G>CCA385680195GRIP1c.467C>G (p.Ser156Cys)
c.242C>G (p.Ser81Cys)
c.74C>G (p.Ser25Cys)
c.320C>G (p.Ser107Cys)
c.161C>G (p.Ser54Cys)
c.245C>G (p.Ser82Cys)
c.164C>G (p.Ser55Cys)
12g.66541845G>TCA385680196GRIP1c.467C>A (p.Ser156Tyr)
c.242C>A (p.Ser81Tyr)
c.74C>A (p.Ser25Tyr)
c.320C>A (p.Ser107Tyr)
c.161C>A (p.Ser54Tyr)
c.245C>A (p.Ser82Tyr)
c.164C>A (p.Ser55Tyr)
12g.66541846A=CA2043081298GRIP1c.466T= (p.Ser156=)
c.241T= (p.Ser81=)
c.73T= (p.Ser25=)
c.319T= (p.Ser107=)
c.160T= (p.Ser54=)
c.244T= (p.Ser82=)
c.163T= (p.Ser55=)
12g.66541846A>CCA385680197GRIP1c.466T>G (p.Ser156Ala)
c.241T>G (p.Ser81Ala)
c.73T>G (p.Ser25Ala)
c.319T>G (p.Ser107Ala)
c.160T>G (p.Ser54Ala)
c.244T>G (p.Ser82Ala)
c.163T>G (p.Ser55Ala)
 dbSNP gnomAD v3 gnomAD v4
12g.66541846A>GCA385680198GRIP1c.466T>C (p.Ser156Pro)
c.241T>C (p.Ser81Pro)
c.73T>C (p.Ser25Pro)
c.319T>C (p.Ser107Pro)
c.160T>C (p.Ser54Pro)
c.244T>C (p.Ser82Pro)
c.163T>C (p.Ser55Pro)
12g.66541846A>TCA385680199GRIP1c.466T>A (p.Ser156Thr)
c.241T>A (p.Ser81Thr)
c.73T>A (p.Ser25Thr)
c.319T>A (p.Ser107Thr)
c.160T>A (p.Ser54Thr)
c.244T>A (p.Ser82Thr)
c.163T>A (p.Ser55Thr)
12g.66541847T>ACA480703143GRIP1c.465A>T (p.Val155=)
c.240A>T (p.Val80=)
c.72A>T (p.Val24=)
c.318A>T (p.Val106=)
c.159A>T (p.Val53=)
c.243A>T (p.Val81=)
c.162A>T (p.Val54=)
12g.66541847T>CCA10642378GRIP1c.465A>G (p.Val155=)
c.240A>G (p.Val80=)
c.72A>G (p.Val24=)
c.318A>G (p.Val106=)
c.159A>G (p.Val53=)
c.243A>G (p.Val81=)
c.162A>G (p.Val54=)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.66541847T>GCA480703144GRIP1c.465A>C (p.Val155=)
c.240A>C (p.Val80=)
c.72A>C (p.Val24=)
c.318A>C (p.Val106=)
c.159A>C (p.Val53=)
c.243A>C (p.Val81=)
c.162A>C (p.Val54=)
12g.66541847T=CA2043081299GRIP1c.465A= (p.Val155=)
c.240A= (p.Val80=)
c.72A= (p.Val24=)
c.318A= (p.Val106=)
c.159A= (p.Val53=)
c.243A= (p.Val81=)
c.162A= (p.Val54=)
12g.66541848A=CA2043081300GRIP1c.464T= (p.Val155=)
c.239T= (p.Val80=)
c.71T= (p.Val24=)
c.317T= (p.Val106=)
c.158T= (p.Val53=)
c.242T= (p.Val81=)
c.161T= (p.Val54=)
12g.66541848A>CCA385680200GRIP1c.464T>G (p.Val155Gly)
c.239T>G (p.Val80Gly)
c.71T>G (p.Val24Gly)
c.317T>G (p.Val106Gly)
c.158T>G (p.Val53Gly)
c.242T>G (p.Val81Gly)
c.161T>G (p.Val54Gly)
 dbSNP
12g.66541848A>GCA6674712GRIP1c.464T>C (p.Val155Ala)
c.239T>C (p.Val80Ala)
c.71T>C (p.Val24Ala)
c.317T>C (p.Val106Ala)
c.158T>C (p.Val53Ala)
c.242T>C (p.Val81Ala)
c.161T>C (p.Val54Ala)
 dbSNP ExAC gnomAD v2
12g.66541848A>TCA385680201GRIP1c.464T>A (p.Val155Glu)
c.239T>A (p.Val80Glu)
c.71T>A (p.Val24Glu)
c.317T>A (p.Val106Glu)
c.158T>A (p.Val53Glu)
c.242T>A (p.Val81Glu)
c.161T>A (p.Val54Glu)
12g.66541849C>ACA385680204GRIP1c.463G>T (p.Val155Leu)
c.238G>T (p.Val80Leu)
c.70G>T (p.Val24Leu)
c.316G>T (p.Val106Leu)
c.157G>T (p.Val53Leu)
c.241G>T (p.Val81Leu)
c.160G>T (p.Val54Leu)
12g.66541849C=CA2043081301GRIP1c.463G= (p.Val155=)
c.238G= (p.Val80=)
c.70G= (p.Val24=)
c.316G= (p.Val106=)
c.157G= (p.Val53=)
c.241G= (p.Val81=)
c.160G= (p.Val54=)
12g.66541849C>GCA385680203GRIP1c.463G>C (p.Val155Leu)
c.238G>C (p.Val80Leu)
c.70G>C (p.Val24Leu)
c.316G>C (p.Val106Leu)
c.157G>C (p.Val53Leu)
c.241G>C (p.Val81Leu)
c.160G>C (p.Val54Leu)
12g.66541849C>TCA385680202GRIP1c.463G>A (p.Val155Ile)
c.238G>A (p.Val80Ile)
c.70G>A (p.Val24Ile)
c.316G>A (p.Val106Ile)
c.157G>A (p.Val53Ile)
c.241G>A (p.Val81Ile)
c.160G>A (p.Val54Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.66541850T>ACA385680206GRIP1c.462A>T (p.Arg154Ser)
c.237A>T (p.Arg79Ser)
c.69A>T (p.Arg23Ser)
c.315A>T (p.Arg105Ser)
c.156A>T (p.Arg52Ser)
c.240A>T (p.Arg80Ser)
c.159A>T (p.Arg53Ser)
12g.66541850T>CCA480703145GRIP1c.462A>G (p.Arg154=)
c.237A>G (p.Arg79=)
c.69A>G (p.Arg23=)
c.315A>G (p.Arg105=)
c.156A>G (p.Arg52=)
c.240A>G (p.Arg80=)
c.159A>G (p.Arg53=)
 gnomAD v4
12g.66541850T>GCA385680205GRIP1c.462A>C (p.Arg154Ser)
c.237A>C (p.Arg79Ser)
c.69A>C (p.Arg23Ser)
c.315A>C (p.Arg105Ser)
c.156A>C (p.Arg52Ser)
c.240A>C (p.Arg80Ser)
c.159A>C (p.Arg53Ser)
 gnomAD v4
12g.66541851C>ACA385680208GRIP1c.461G>T (p.Arg154Ile)
c.236G>T (p.Arg79Ile)
c.68G>T (p.Arg23Ile)
c.314G>T (p.Arg105Ile)
c.155G>T (p.Arg52Ile)
c.239G>T (p.Arg80Ile)
c.158G>T (p.Arg53Ile)
12g.66541851C=CA2043081302GRIP1c.461G= (p.Arg154=)
c.236G= (p.Arg79=)
c.68G= (p.Arg23=)
c.314G= (p.Arg105=)
c.155G= (p.Arg52=)
c.239G= (p.Arg80=)
c.158G= (p.Arg53=)
12g.66541851C>GCA385680207GRIP1c.461G>C (p.Arg154Thr)
c.236G>C (p.Arg79Thr)
c.68G>C (p.Arg23Thr)
c.314G>C (p.Arg105Thr)
c.155G>C (p.Arg52Thr)
c.239G>C (p.Arg80Thr)
c.158G>C (p.Arg53Thr)
12g.66541851C>TCA6674713GRIP1c.461G>A (p.Arg154Lys)
c.236G>A (p.Arg79Lys)
c.68G>A (p.Arg23Lys)
c.314G>A (p.Arg105Lys)
c.155G>A (p.Arg52Lys)
c.239G>A (p.Arg80Lys)
c.158G>A (p.Arg53Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541852T>ACA385680209GRIP1c.460A>T (p.Arg154Ter)
c.235A>T (p.Arg79Ter)
c.67A>T (p.Arg23Ter)
c.313A>T (p.Arg105Ter)
c.154A>T (p.Arg52Ter)
c.238A>T (p.Arg80Ter)
c.157A>T (p.Arg53Ter)
12g.66541852T>CCA385680210GRIP1c.460A>G (p.Arg154Gly)
c.235A>G (p.Arg79Gly)
c.67A>G (p.Arg23Gly)
c.313A>G (p.Arg105Gly)
c.154A>G (p.Arg52Gly)
c.238A>G (p.Arg80Gly)
c.157A>G (p.Arg53Gly)
12g.66541852T>GCA480703146GRIP1c.460A>C (p.Arg154=)
c.235A>C (p.Arg79=)
c.67A>C (p.Arg23=)
c.313A>C (p.Arg105=)
c.154A>C (p.Arg52=)
c.238A>C (p.Arg80=)
c.157A>C (p.Arg53=)
12g.66541853T>ACA480703147GRIP1c.459A>T (p.Pro153=)
c.234A>T (p.Pro78=)
c.66A>T (p.Pro22=)
c.312A>T (p.Pro104=)
c.153A>T (p.Pro51=)
c.237A>T (p.Pro79=)
c.156A>T (p.Pro52=)
 gnomAD v4
12g.66541853T>CCA480703148GRIP1c.459A>G (p.Pro153=)
c.234A>G (p.Pro78=)
c.66A>G (p.Pro22=)
c.312A>G (p.Pro104=)
c.153A>G (p.Pro51=)
c.237A>G (p.Pro79=)
c.156A>G (p.Pro52=)
 gnomAD v4
12g.66541853T>GCA480703149GRIP1c.459A>C (p.Pro153=)
c.234A>C (p.Pro78=)
c.66A>C (p.Pro22=)
c.312A>C (p.Pro104=)
c.153A>C (p.Pro51=)
c.237A>C (p.Pro79=)
c.156A>C (p.Pro52=)
12g.66541854G>ACA385680211GRIP1c.458C>T (p.Pro153Leu)
c.233C>T (p.Pro78Leu)
c.65C>T (p.Pro22Leu)
c.311C>T (p.Pro104Leu)
c.152C>T (p.Pro51Leu)
c.236C>T (p.Pro79Leu)
c.155C>T (p.Pro52Leu)
12g.66541854G>CCA385680212GRIP1c.458C>G (p.Pro153Arg)
c.233C>G (p.Pro78Arg)
c.65C>G (p.Pro22Arg)
c.311C>G (p.Pro104Arg)
c.152C>G (p.Pro51Arg)
c.236C>G (p.Pro79Arg)
c.155C>G (p.Pro52Arg)
12g.66541854G>TCA385680213GRIP1c.458C>A (p.Pro153Gln)
c.233C>A (p.Pro78Gln)
c.65C>A (p.Pro22Gln)
c.311C>A (p.Pro104Gln)
c.152C>A (p.Pro51Gln)
c.236C>A (p.Pro79Gln)
c.155C>A (p.Pro52Gln)
12g.66541855G>ACA385680214GRIP1c.457C>T (p.Pro153Ser)
c.232C>T (p.Pro78Ser)
c.64C>T (p.Pro22Ser)
c.310C>T (p.Pro104Ser)
c.151C>T (p.Pro51Ser)
c.235C>T (p.Pro79Ser)
c.154C>T (p.Pro52Ser)
12g.66541855G>CCA385680215GRIP1c.457C>G (p.Pro153Ala)
c.232C>G (p.Pro78Ala)
c.64C>G (p.Pro22Ala)
c.310C>G (p.Pro104Ala)
c.151C>G (p.Pro51Ala)
c.235C>G (p.Pro79Ala)
c.154C>G (p.Pro52Ala)
12g.66541855G>TCA385680216GRIP1c.457C>A (p.Pro153Thr)
c.232C>A (p.Pro78Thr)
c.64C>A (p.Pro22Thr)
c.310C>A (p.Pro104Thr)
c.151C>A (p.Pro51Thr)
c.235C>A (p.Pro79Thr)
c.154C>A (p.Pro52Thr)
12g.66541856C>ACA6674714GRIP1c.456G>T (p.Lys152Asn)
c.231G>T (p.Lys77Asn)
c.63G>T (p.Lys21Asn)
c.309G>T (p.Lys103Asn)
c.150G>T (p.Lys50Asn)
c.234G>T (p.Lys78Asn)
c.153G>T (p.Lys51Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66541856C=CA2043081303GRIP1c.456G= (p.Lys152=)
c.231G= (p.Lys77=)
c.63G= (p.Lys21=)
c.309G= (p.Lys103=)
c.150G= (p.Lys50=)
c.234G= (p.Lys78=)
c.153G= (p.Lys51=)
12g.66541856C>GCA385680217GRIP1c.456G>C (p.Lys152Asn)
c.231G>C (p.Lys77Asn)
c.63G>C (p.Lys21Asn)
c.309G>C (p.Lys103Asn)
c.150G>C (p.Lys50Asn)
c.234G>C (p.Lys78Asn)
c.153G>C (p.Lys51Asn)
12g.66541856C>TCA480703150GRIP1c.456G>A (p.Lys152=)
c.231G>A (p.Lys77=)
c.63G>A (p.Lys21=)
c.309G>A (p.Lys103=)
c.150G>A (p.Lys50=)
c.234G>A (p.Lys78=)
c.153G>A (p.Lys51=)
12g.66541857T>ACA385680220GRIP1c.455A>T (p.Lys152Met)
c.230A>T (p.Lys77Met)
c.62A>T (p.Lys21Met)
c.308A>T (p.Lys103Met)
c.149A>T (p.Lys50Met)
c.233A>T (p.Lys78Met)
c.152A>T (p.Lys51Met)
 COSMIC COSMIC
12g.66541857T>CCA385680219GRIP1c.455A>G (p.Lys152Arg)
c.230A>G (p.Lys77Arg)
c.62A>G (p.Lys21Arg)
c.308A>G (p.Lys103Arg)
c.149A>G (p.Lys50Arg)
c.233A>G (p.Lys78Arg)
c.152A>G (p.Lys51Arg)
12g.66541857T>GCA385680218GRIP1c.455A>C (p.Lys152Thr)
c.230A>C (p.Lys77Thr)
c.62A>C (p.Lys21Thr)
c.308A>C (p.Lys103Thr)
c.149A>C (p.Lys50Thr)
c.233A>C (p.Lys78Thr)
c.152A>C (p.Lys51Thr)
12g.66541858T>ACA385680221GRIP1c.454A>T (p.Lys152Ter)
c.229A>T (p.Lys77Ter)
c.61A>T (p.Lys21Ter)
c.307A>T (p.Lys103Ter)
c.148A>T (p.Lys50Ter)
c.232A>T (p.Lys78Ter)
c.151A>T (p.Lys51Ter)
12g.66541858T>CCA385680222GRIP1c.454A>G (p.Lys152Glu)
c.229A>G (p.Lys77Glu)
c.61A>G (p.Lys21Glu)
c.307A>G (p.Lys103Glu)
c.148A>G (p.Lys50Glu)
c.232A>G (p.Lys78Glu)
c.151A>G (p.Lys51Glu)
12g.66541858T>GCA385680223GRIP1c.454A>C (p.Lys152Gln)
c.229A>C (p.Lys77Gln)
c.61A>C (p.Lys21Gln)
c.307A>C (p.Lys103Gln)
c.148A>C (p.Lys50Gln)
c.232A>C (p.Lys78Gln)
c.151A>C (p.Lys51Gln)
12g.66541859G>ACA480703151GRIP1c.453C>T (p.Gly151=)
c.228C>T (p.Gly76=)
c.60C>T (p.Gly20=)
c.306C>T (p.Gly102=)
c.147C>T (p.Gly49=)
c.231C>T (p.Gly77=)
c.150C>T (p.Gly50=)
12g.66541859G>CCA480703152GRIP1c.453C>G (p.Gly151=)
c.228C>G (p.Gly76=)
c.60C>G (p.Gly20=)
c.306C>G (p.Gly102=)
c.147C>G (p.Gly49=)
c.231C>G (p.Gly77=)
c.150C>G (p.Gly50=)
12g.66541859G>TCA480703153GRIP1c.453C>A (p.Gly151=)
c.228C>A (p.Gly76=)
c.60C>A (p.Gly20=)
c.306C>A (p.Gly102=)
c.147C>A (p.Gly49=)
c.231C>A (p.Gly77=)
c.150C>A (p.Gly50=)
12g.66541860C>ACA385680224GRIP1c.452G>T (p.Gly151Val)
c.227G>T (p.Gly76Val)
c.59G>T (p.Gly20Val)
c.305G>T (p.Gly102Val)
c.146G>T (p.Gly49Val)
c.230G>T (p.Gly77Val)
c.149G>T (p.Gly50Val)
12g.66541860C>GCA385680225GRIP1c.452G>C (p.Gly151Ala)
c.227G>C (p.Gly76Ala)
c.59G>C (p.Gly20Ala)
c.305G>C (p.Gly102Ala)
c.146G>C (p.Gly49Ala)
c.230G>C (p.Gly77Ala)
c.149G>C (p.Gly50Ala)
12g.66541860C>TCA385680226GRIP1c.452G>A (p.Gly151Asp)
c.227G>A (p.Gly76Asp)
c.59G>A (p.Gly20Asp)
c.305G>A (p.Gly102Asp)
c.146G>A (p.Gly49Asp)
c.230G>A (p.Gly77Asp)
c.149G>A (p.Gly50Asp)
12g.66541861C>ACA385680227GRIP1c.451G>T (p.Gly151Cys)
c.226G>T (p.Gly76Cys)
c.58G>T (p.Gly20Cys)
c.304G>T (p.Gly102Cys)
c.145G>T (p.Gly49Cys)
c.229G>T (p.Gly77Cys)
c.148G>T (p.Gly50Cys)
12g.66541861C=CA2043081304GRIP1c.451G= (p.Gly151=)
c.226G= (p.Gly76=)
c.58G= (p.Gly20=)
c.304G= (p.Gly102=)
c.145G= (p.Gly49=)
c.229G= (p.Gly77=)
c.148G= (p.Gly50=)
12g.66541861C>GCA385680228GRIP1c.451G>C (p.Gly151Arg)
c.226G>C (p.Gly76Arg)
c.58G>C (p.Gly20Arg)
c.304G>C (p.Gly102Arg)
c.145G>C (p.Gly49Arg)
c.229G>C (p.Gly77Arg)
c.148G>C (p.Gly50Arg)
12g.66541861C>TCA385680229GRIP1c.451G>A (p.Gly151Ser)
c.226G>A (p.Gly76Ser)
c.58G>A (p.Gly20Ser)
c.304G>A (p.Gly102Ser)
c.145G>A (p.Gly49Ser)
c.229G>A (p.Gly77Ser)
c.148G>A (p.Gly50Ser)
 dbSNP gnomAD v2 gnomAD v4
12g.66541862A=CA2043081305GRIP1c.450T= (p.Asp150=)
c.225T= (p.Asp75=)
c.57T= (p.Asp19=)
c.303T= (p.Asp101=)
c.144T= (p.Asp48=)
c.228T= (p.Asp76=)
c.147T= (p.Asp49=)
12g.66541862A>CCA385680230GRIP1c.450T>G (p.Asp150Glu)
c.225T>G (p.Asp75Glu)
c.57T>G (p.Asp19Glu)
c.303T>G (p.Asp101Glu)
c.144T>G (p.Asp48Glu)
c.228T>G (p.Asp76Glu)
c.147T>G (p.Asp49Glu)
12g.66541862A>GCA6674715GRIP1c.450T>C (p.Asp150=)
c.225T>C (p.Asp75=)
c.57T>C (p.Asp19=)
c.303T>C (p.Asp101=)
c.144T>C (p.Asp48=)
c.228T>C (p.Asp76=)
c.147T>C (p.Asp49=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541862A>TCA385680231GRIP1c.450T>A (p.Asp150Glu)
c.225T>A (p.Asp75Glu)
c.57T>A (p.Asp19Glu)
c.303T>A (p.Asp101Glu)
c.144T>A (p.Asp48Glu)
c.228T>A (p.Asp76Glu)
c.147T>A (p.Asp49Glu)
12g.66541863T>ACA239016927GRIP1c.449A>T (p.Asp150Val)
c.224A>T (p.Asp75Val)
c.56A>T (p.Asp19Val)
c.302A>T (p.Asp101Val)
c.143A>T (p.Asp48Val)
c.227A>T (p.Asp76Val)
c.146A>T (p.Asp49Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541863T>CCA385680233GRIP1c.449A>G (p.Asp150Gly)
c.224A>G (p.Asp75Gly)
c.56A>G (p.Asp19Gly)
c.302A>G (p.Asp101Gly)
c.143A>G (p.Asp48Gly)
c.227A>G (p.Asp76Gly)
c.146A>G (p.Asp49Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.66541863T>GCA385680232GRIP1c.449A>C (p.Asp150Ala)
c.224A>C (p.Asp75Ala)
c.56A>C (p.Asp19Ala)
c.302A>C (p.Asp101Ala)
c.143A>C (p.Asp48Ala)
c.227A>C (p.Asp76Ala)
c.146A>C (p.Asp49Ala)
12g.66541863T=CA2043081306GRIP1c.449A= (p.Asp150=)
c.224A= (p.Asp75=)
c.56A= (p.Asp19=)
c.302A= (p.Asp101=)
c.143A= (p.Asp48=)
c.227A= (p.Asp76=)
c.146A= (p.Asp49=)
12g.66541864C>ACA385680234GRIP1c.448G>T (p.Asp150Tyr)
c.223G>T (p.Asp75Tyr)
c.55G>T (p.Asp19Tyr)
c.301G>T (p.Asp101Tyr)
c.142G>T (p.Asp48Tyr)
c.226G>T (p.Asp76Tyr)
c.145G>T (p.Asp49Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541864C=CA2043081307GRIP1c.448G= (p.Asp150=)
c.223G= (p.Asp75=)
c.55G= (p.Asp19=)
c.301G= (p.Asp101=)
c.142G= (p.Asp48=)
c.226G= (p.Asp76=)
c.145G= (p.Asp49=)
12g.66541864C>GCA385680235GRIP1c.448G>C (p.Asp150His)
c.223G>C (p.Asp75His)
c.55G>C (p.Asp19His)
c.301G>C (p.Asp101His)
c.142G>C (p.Asp48His)
c.226G>C (p.Asp76His)
c.145G>C (p.Asp49His)
12g.66541864C>TCA6674716GRIP1c.448G>A (p.Asp150Asn)
c.223G>A (p.Asp75Asn)
c.55G>A (p.Asp19Asn)
c.301G>A (p.Asp101Asn)
c.142G>A (p.Asp48Asn)
c.226G>A (p.Asp76Asn)
c.145G>A (p.Asp49Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66541865C>ACA385680236GRIP1c.447G>T (p.Lys149Asn)
c.222G>T (p.Lys74Asn)
c.54G>T (p.Lys18Asn)
c.300G>T (p.Lys100Asn)
c.141G>T (p.Lys47Asn)
c.225G>T (p.Lys75Asn)
c.144G>T (p.Lys48Asn)
12g.66541865C=CA2043081308GRIP1c.447G= (p.Lys149=)
c.222G= (p.Lys74=)
c.54G= (p.Lys18=)
c.300G= (p.Lys100=)
c.141G= (p.Lys47=)
c.225G= (p.Lys75=)
c.144G= (p.Lys48=)
12g.66541865C>GCA385680237GRIP1c.447G>C (p.Lys149Asn)
c.222G>C (p.Lys74Asn)
c.54G>C (p.Lys18Asn)
c.300G>C (p.Lys100Asn)
c.141G>C (p.Lys47Asn)
c.225G>C (p.Lys75Asn)
c.144G>C (p.Lys48Asn)
 COSMIC COSMIC
12g.66541865C>TCA6674717GRIP1c.447G>A (p.Lys149=)
c.222G>A (p.Lys74=)
c.54G>A (p.Lys18=)
c.300G>A (p.Lys100=)
c.141G>A (p.Lys47=)
c.225G>A (p.Lys75=)
c.144G>A (p.Lys48=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541866T>ACA385680240GRIP1c.446A>T (p.Lys149Met)
c.221A>T (p.Lys74Met)
c.53A>T (p.Lys18Met)
c.299A>T (p.Lys100Met)
c.140A>T (p.Lys47Met)
c.224A>T (p.Lys75Met)
c.143A>T (p.Lys48Met)
12g.66541866T>CCA385680238GRIP1c.446A>G (p.Lys149Arg)
c.221A>G (p.Lys74Arg)
c.53A>G (p.Lys18Arg)
c.299A>G (p.Lys100Arg)
c.140A>G (p.Lys47Arg)
c.224A>G (p.Lys75Arg)
c.143A>G (p.Lys48Arg)
12g.66541866T>GCA385680239GRIP1c.446A>C (p.Lys149Thr)
c.221A>C (p.Lys74Thr)
c.53A>C (p.Lys18Thr)
c.299A>C (p.Lys100Thr)
c.140A>C (p.Lys47Thr)
c.224A>C (p.Lys75Thr)
c.143A>C (p.Lys48Thr)
12g.66541867T>ACA385680241GRIP1c.445A>T (p.Lys149Ter)
c.220A>T (p.Lys74Ter)
c.52A>T (p.Lys18Ter)
c.298A>T (p.Lys100Ter)
c.139A>T (p.Lys47Ter)
c.223A>T (p.Lys75Ter)
c.142A>T (p.Lys48Ter)
12g.66541867T>CCA385680242GRIP1c.445A>G (p.Lys149Glu)
c.220A>G (p.Lys74Glu)
c.52A>G (p.Lys18Glu)
c.298A>G (p.Lys100Glu)
c.139A>G (p.Lys47Glu)
c.223A>G (p.Lys75Glu)
c.142A>G (p.Lys48Glu)
 dbSNP gnomAD v3 gnomAD v4
12g.66541867T>GCA385680243GRIP1c.445A>C (p.Lys149Gln)
c.220A>C (p.Lys74Gln)
c.52A>C (p.Lys18Gln)
c.298A>C (p.Lys100Gln)
c.139A>C (p.Lys47Gln)
c.223A>C (p.Lys75Gln)
c.142A>C (p.Lys48Gln)
12g.66541867T=CA2043081309GRIP1c.445A= (p.Lys149=)
c.220A= (p.Lys74=)
c.52A= (p.Lys18=)
c.298A= (p.Lys100=)
c.139A= (p.Lys47=)
c.223A= (p.Lys75=)
c.142A= (p.Lys48=)
12g.66541868A>CCA385680244GRIP1c.444T>G (p.Asp148Glu)
c.219T>G (p.Asp73Glu)
c.51T>G (p.Asp17Glu)
c.297T>G (p.Asp99Glu)
c.138T>G (p.Asp46Glu)
c.222T>G (p.Asp74Glu)
c.141T>G (p.Asp47Glu)
12g.66541868A>GCA480703154GRIP1c.444T>C (p.Asp148=)
c.219T>C (p.Asp73=)
c.51T>C (p.Asp17=)
c.297T>C (p.Asp99=)
c.138T>C (p.Asp46=)
c.222T>C (p.Asp74=)
c.141T>C (p.Asp47=)
12g.66541868A>TCA385680245GRIP1c.444T>A (p.Asp148Glu)
c.219T>A (p.Asp73Glu)
c.51T>A (p.Asp17Glu)
c.297T>A (p.Asp99Glu)
c.138T>A (p.Asp46Glu)
c.222T>A (p.Asp74Glu)
c.141T>A (p.Asp47Glu)
12g.66541869delCA2575217935GRIP1c.443del (p.Asp148ValfsTer?)
c.218del (p.Asp73ValfsTer?)
c.50del (p.Asp17ValfsTer?)
c.296del (p.Asp99ValfsTer?)
c.137del (p.Asp46ValfsTer?)
c.221del (p.Asp74ValfsTer?)
c.140del (p.Asp47ValfsTer?)
12g.66541869T>ACA385680246GRIP1c.443A>T (p.Asp148Val)
c.218A>T (p.Asp73Val)
c.50A>T (p.Asp17Val)
c.296A>T (p.Asp99Val)
c.137A>T (p.Asp46Val)
c.221A>T (p.Asp74Val)
c.140A>T (p.Asp47Val)
12g.66541869T>CCA385680248GRIP1c.443A>G (p.Asp148Gly)
c.218A>G (p.Asp73Gly)
c.50A>G (p.Asp17Gly)
c.296A>G (p.Asp99Gly)
c.137A>G (p.Asp46Gly)
c.221A>G (p.Asp74Gly)
c.140A>G (p.Asp47Gly)
12g.66541869T>GCA385680247GRIP1c.443A>C (p.Asp148Ala)
c.218A>C (p.Asp73Ala)
c.50A>C (p.Asp17Ala)
c.296A>C (p.Asp99Ala)
c.137A>C (p.Asp46Ala)
c.221A>C (p.Asp74Ala)
c.140A>C (p.Asp47Ala)
12g.66541870C>ACA385680249GRIP1c.442G>T (p.Asp148Tyr)
c.217G>T (p.Asp73Tyr)
c.49G>T (p.Asp17Tyr)
c.295G>T (p.Asp99Tyr)
c.136G>T (p.Asp46Tyr)
c.220G>T (p.Asp74Tyr)
c.139G>T (p.Asp47Tyr)
12g.66541870C>GCA385680250GRIP1c.442G>C (p.Asp148His)
c.217G>C (p.Asp73His)
c.49G>C (p.Asp17His)
c.295G>C (p.Asp99His)
c.136G>C (p.Asp46His)
c.220G>C (p.Asp74His)
c.139G>C (p.Asp47His)
12g.66541870C>TCA385680251GRIP1c.442G>A (p.Asp148Asn)
c.217G>A (p.Asp73Asn)
c.49G>A (p.Asp17Asn)
c.295G>A (p.Asp99Asn)
c.136G>A (p.Asp46Asn)
c.220G>A (p.Asp74Asn)
c.139G>A (p.Asp47Asn)
12g.66541871A=CA2043081310GRIP1c.441T= (p.Ile147=)
c.216T= (p.Ile72=)
c.48T= (p.Ile16=)
c.294T= (p.Ile98=)
c.135T= (p.Ile45=)
c.219T= (p.Ile73=)
c.138T= (p.Ile46=)
12g.66541871A>CCA385680252GRIP1c.441T>G (p.Ile147Met)
c.216T>G (p.Ile72Met)
c.48T>G (p.Ile16Met)
c.294T>G (p.Ile98Met)
c.135T>G (p.Ile45Met)
c.219T>G (p.Ile73Met)
c.138T>G (p.Ile46Met)
12g.66541871A>GCA6674718GRIP1c.441T>C (p.Ile147=)
c.216T>C (p.Ile72=)
c.48T>C (p.Ile16=)
c.294T>C (p.Ile98=)
c.135T>C (p.Ile45=)
c.219T>C (p.Ile73=)
c.138T>C (p.Ile46=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541871A>TCA480703155GRIP1c.441T>A (p.Ile147=)
c.216T>A (p.Ile72=)
c.48T>A (p.Ile16=)
c.294T>A (p.Ile98=)
c.135T>A (p.Ile45=)
c.219T>A (p.Ile73=)
c.138T>A (p.Ile46=)
12g.66541872A=CA2043081311GRIP1c.440T= (p.Ile147=)
c.215T= (p.Ile72=)
c.47T= (p.Ile16=)
c.47T=
c.293T= (p.Ile98=)
c.134T= (p.Ile45=)
c.218T= (p.Ile73=)
c.137T= (p.Ile46=)
12g.66541872A>CCA385680253GRIP1c.440T>G (p.Ile147Ser)
c.215T>G (p.Ile72Ser)
c.47T>G (p.Ile16Ser)
c.47T>G
c.293T>G (p.Ile98Ser)
c.134T>G (p.Ile45Ser)
c.218T>G (p.Ile73Ser)
c.137T>G (p.Ile46Ser)
12g.66541872A>GCA6674719GRIP1c.440T>C (p.Ile147Thr)
c.215T>C (p.Ile72Thr)
c.47T>C (p.Ile16Thr)
c.47T>C
c.293T>C (p.Ile98Thr)
c.134T>C (p.Ile45Thr)
c.218T>C (p.Ile73Thr)
c.137T>C (p.Ile46Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541872A>TCA385680254GRIP1c.440T>A (p.Ile147Asn)
c.215T>A (p.Ile72Asn)
c.47T>A (p.Ile16Asn)
c.47T>A
c.293T>A (p.Ile98Asn)
c.134T>A (p.Ile45Asn)
c.218T>A (p.Ile73Asn)
c.137T>A (p.Ile46Asn)
12g.66541873T>ACA385680255GRIP1c.439A>T (p.Ile147Phe)
c.214A>T (p.Ile72Phe)
c.46A>T (p.Ile16Phe)
c.46A>T
c.292A>T (p.Ile98Phe)
c.133A>T (p.Ile45Phe)
c.217A>T (p.Ile73Phe)
c.136A>T (p.Ile46Phe)
12g.66541873T>CCA6674720GRIP1c.439A>G (p.Ile147Val)
c.214A>G (p.Ile72Val)
c.46A>G (p.Ile16Val)
c.46A>G
c.292A>G (p.Ile98Val)
c.133A>G (p.Ile45Val)
c.217A>G (p.Ile73Val)
c.136A>G (p.Ile46Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541873T>GCA385680256GRIP1c.439A>C (p.Ile147Leu)
c.214A>C (p.Ile72Leu)
c.46A>C (p.Ile16Leu)
c.46A>C
c.292A>C (p.Ile98Leu)
c.133A>C (p.Ile45Leu)
c.217A>C (p.Ile73Leu)
c.136A>C (p.Ile46Leu)
12g.66541873T=CA2043081312GRIP1c.439A= (p.Ile147=)
c.214A= (p.Ile72=)
c.46A= (p.Ile16=)
c.46A=
c.292A= (p.Ile98=)
c.133A= (p.Ile45=)
c.217A= (p.Ile73=)
c.136A= (p.Ile46=)
12g.66541874T>ACA480703156GRIP1c.438A>T (p.Gly146=)
c.213A>T (p.Gly71=)
c.45A>T (p.Gly15=)
c.291A>T (p.Gly97=)
c.132A>T (p.Gly44=)
c.216A>T (p.Gly72=)
c.135A>T (p.Gly45=)
12g.66541874T>CCA480703157GRIP1c.438A>G (p.Gly146=)
c.213A>G (p.Gly71=)
c.45A>G (p.Gly15=)
c.291A>G (p.Gly97=)
c.132A>G (p.Gly44=)
c.216A>G (p.Gly72=)
c.135A>G (p.Gly45=)
12g.66541874T>GCA480703158GRIP1c.438A>C (p.Gly146=)
c.213A>C (p.Gly71=)
c.45A>C (p.Gly15=)
c.291A>C (p.Gly97=)
c.132A>C (p.Gly44=)
c.216A>C (p.Gly72=)
c.135A>C (p.Gly45=)
12g.66541875C>ACA385680258GRIP1c.437G>T (p.Gly146Val)
c.212G>T (p.Gly71Val)
c.44G>T (p.Gly15Val)
c.290G>T (p.Gly97Val)
c.131G>T (p.Gly44Val)
c.215G>T (p.Gly72Val)
c.134G>T (p.Gly45Val)
 dbSNP gnomAD v3 gnomAD v4
12g.66541875C=CA2043081313GRIP1c.437G= (p.Gly146=)
c.212G= (p.Gly71=)
c.44G= (p.Gly15=)
c.290G= (p.Gly97=)
c.131G= (p.Gly44=)
c.215G= (p.Gly72=)
c.134G= (p.Gly45=)
12g.66541875C>GCA385680259GRIP1c.437G>C (p.Gly146Ala)
c.212G>C (p.Gly71Ala)
c.44G>C (p.Gly15Ala)
c.290G>C (p.Gly97Ala)
c.131G>C (p.Gly44Ala)
c.215G>C (p.Gly72Ala)
c.134G>C (p.Gly45Ala)
12g.66541875C>TCA385680257GRIP1c.437G>A (p.Gly146Glu)
c.212G>A (p.Gly71Glu)
c.44G>A (p.Gly15Glu)
c.290G>A (p.Gly97Glu)
c.131G>A (p.Gly44Glu)
c.215G>A (p.Gly72Glu)
c.134G>A (p.Gly45Glu)
12g.66541876C>ACA385680260GRIP1c.436G>T (p.Gly146Ter)
c.211G>T (p.Gly71Ter)
c.43G>T (p.Gly15Ter)
c.289G>T (p.Gly97Ter)
c.130G>T (p.Gly44Ter)
c.214G>T (p.Gly72Ter)
c.133G>T (p.Gly45Ter)
12g.66541876C>GCA385680262GRIP1c.436G>C (p.Gly146Arg)
c.211G>C (p.Gly71Arg)
c.43G>C (p.Gly15Arg)
c.289G>C (p.Gly97Arg)
c.130G>C (p.Gly44Arg)
c.214G>C (p.Gly72Arg)
c.133G>C (p.Gly45Arg)
12g.66541876C>TCA385680261GRIP1c.436G>A (p.Gly146Arg)
c.211G>A (p.Gly71Arg)
c.43G>A (p.Gly15Arg)
c.289G>A (p.Gly97Arg)
c.130G>A (p.Gly44Arg)
c.214G>A (p.Gly72Arg)
c.133G>A (p.Gly45Arg)
12g.66541877T>ACA480703159GRIP1c.435A>T (p.Gly145=)
c.210A>T (p.Gly70=)
c.42A>T (p.Gly14=)
c.288A>T (p.Gly96=)
c.129A>T (p.Gly43=)
c.213A>T (p.Gly71=)
c.132A>T (p.Gly44=)
12g.66541877T>CCA480703160GRIP1c.435A>G (p.Gly145=)
c.210A>G (p.Gly70=)
c.42A>G (p.Gly14=)
c.288A>G (p.Gly96=)
c.129A>G (p.Gly43=)
c.213A>G (p.Gly71=)
c.132A>G (p.Gly44=)
12g.66541877T>GCA480703161GRIP1c.435A>C (p.Gly145=)
c.210A>C (p.Gly70=)
c.42A>C (p.Gly14=)
c.288A>C (p.Gly96=)
c.129A>C (p.Gly43=)
c.213A>C (p.Gly71=)
c.132A>C (p.Gly44=)
12g.66541878C>ACA385680263GRIP1c.434G>T (p.Gly145Val)
c.209G>T (p.Gly70Val)
c.41G>T (p.Gly14Val)
c.287G>T (p.Gly96Val)
c.128G>T (p.Gly43Val)
c.212G>T (p.Gly71Val)
c.131G>T (p.Gly44Val)
12g.66541878C=CA2043081314GRIP1c.434G= (p.Gly145=)
c.209G= (p.Gly70=)
c.41G= (p.Gly14=)
c.287G= (p.Gly96=)
c.128G= (p.Gly43=)
c.212G= (p.Gly71=)
c.131G= (p.Gly44=)
12g.66541878C>GCA385680264GRIP1c.434G>C (p.Gly145Ala)
c.209G>C (p.Gly70Ala)
c.41G>C (p.Gly14Ala)
c.287G>C (p.Gly96Ala)
c.128G>C (p.Gly43Ala)
c.212G>C (p.Gly71Ala)
c.131G>C (p.Gly44Ala)
12g.66541878C>TCA385680265GRIP1c.434G>A (p.Gly145Glu)
c.209G>A (p.Gly70Glu)
c.41G>A (p.Gly14Glu)
c.287G>A (p.Gly96Glu)
c.128G>A (p.Gly43Glu)
c.212G>A (p.Gly71Glu)
c.131G>A (p.Gly44Glu)
 dbSNP gnomAD v2
12g.66541879C>ACA385680266GRIP1c.433G>T (p.Gly145Ter)
c.208G>T (p.Gly70Ter)
c.40G>T (p.Gly14Ter)
c.286G>T (p.Gly96Ter)
c.127G>T (p.Gly43Ter)
c.211G>T (p.Gly71Ter)
c.130G>T (p.Gly44Ter)
12g.66541879C>GCA385680267GRIP1c.433G>C (p.Gly145Arg)
c.208G>C (p.Gly70Arg)
c.40G>C (p.Gly14Arg)
c.286G>C (p.Gly96Arg)
c.127G>C (p.Gly43Arg)
c.211G>C (p.Gly71Arg)
c.130G>C (p.Gly44Arg)
12g.66541879C>TCA385680268GRIP1c.433G>A (p.Gly145Arg)
c.208G>A (p.Gly70Arg)
c.40G>A (p.Gly14Arg)
c.286G>A (p.Gly96Arg)
c.127G>A (p.Gly43Arg)
c.211G>A (p.Gly71Arg)
c.130G>A (p.Gly44Arg)
12g.66541880C>ACA480703162GRIP1c.432G>T (p.Ser144=)
c.207G>T (p.Ser69=)
c.39G>T (p.Ser13=)
c.285G>T (p.Ser95=)
c.126G>T (p.Ser42=)
c.210G>T (p.Ser70=)
c.129G>T (p.Ser43=)
12g.66541880C=CA2043081315GRIP1c.432G= (p.Ser144=)
c.207G= (p.Ser69=)
c.39G= (p.Ser13=)
c.285G= (p.Ser95=)
c.126G= (p.Ser42=)
c.210G= (p.Ser70=)
c.129G= (p.Ser43=)
12g.66541880C>GCA480703163GRIP1c.432G>C (p.Ser144=)
c.207G>C (p.Ser69=)
c.39G>C (p.Ser13=)
c.285G>C (p.Ser95=)
c.126G>C (p.Ser42=)
c.210G>C (p.Ser70=)
c.129G>C (p.Ser43=)
12g.66541880C>TCA6674721GRIP1c.432G>A (p.Ser144=)
c.207G>A (p.Ser69=)
c.39G>A (p.Ser13=)
c.285G>A (p.Ser95=)
c.126G>A (p.Ser42=)
c.210G>A (p.Ser70=)
c.129G>A (p.Ser43=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541881G>ACA385680269GRIP1c.431C>T (p.Ser144Leu)
c.206C>T (p.Ser69Leu)
c.38C>T (p.Ser13Leu)
c.284C>T (p.Ser95Leu)
c.125C>T (p.Ser42Leu)
c.209C>T (p.Ser70Leu)
c.128C>T (p.Ser43Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.66541881G>CCA385680270GRIP1c.431C>G (p.Ser144Trp)
c.206C>G (p.Ser69Trp)
c.38C>G (p.Ser13Trp)
c.284C>G (p.Ser95Trp)
c.125C>G (p.Ser42Trp)
c.209C>G (p.Ser70Trp)
c.128C>G (p.Ser43Trp)
 dbSNP gnomAD v3 gnomAD v4
12g.66541881G=CA2043081316GRIP1c.431C= (p.Ser144=)
c.206C= (p.Ser69=)
c.38C= (p.Ser13=)
c.284C= (p.Ser95=)
c.125C= (p.Ser42=)
c.209C= (p.Ser70=)
c.128C= (p.Ser43=)
12g.66541881G>TCA385680271GRIP1c.431C>A (p.Ser144Ter)
c.206C>A (p.Ser69Ter)
c.38C>A (p.Ser13Ter)
c.284C>A (p.Ser95Ter)
c.125C>A (p.Ser42Ter)
c.209C>A (p.Ser70Ter)
c.128C>A (p.Ser43Ter)
 gnomAD v4
12g.66541882A=CA2043081317GRIP1c.430T= (p.Ser144=)
c.205T= (p.Ser69=)
c.37T= (p.Ser13=)
c.283T= (p.Ser95=)
c.124T= (p.Ser42=)
c.208T= (p.Ser70=)
c.127T= (p.Ser43=)
12g.66541882A>CCA385680272GRIP1c.430T>G (p.Ser144Ala)
c.205T>G (p.Ser69Ala)
c.37T>G (p.Ser13Ala)
c.283T>G (p.Ser95Ala)
c.124T>G (p.Ser42Ala)
c.208T>G (p.Ser70Ala)
c.127T>G (p.Ser43Ala)
12g.66541882A>GCA385680273GRIP1c.430T>C (p.Ser144Pro)
c.205T>C (p.Ser69Pro)
c.37T>C (p.Ser13Pro)
c.283T>C (p.Ser95Pro)
c.124T>C (p.Ser42Pro)
c.208T>C (p.Ser70Pro)
c.127T>C (p.Ser43Pro)
12g.66541882A>TCA385680274GRIP1c.430T>A (p.Ser144Thr)
c.205T>A (p.Ser69Thr)
c.37T>A (p.Ser13Thr)
c.283T>A (p.Ser95Thr)
c.124T>A (p.Ser42Thr)
c.208T>A (p.Ser70Thr)
c.127T>A (p.Ser43Thr)
 dbSNP
12g.66541883T>ACA480703164GRIP1c.429A>T (p.Val143=)
c.204A>T (p.Val68=)
c.36A>T (p.Val12=)
c.282A>T (p.Val94=)
c.123A>T (p.Val41=)
c.207A>T (p.Val69=)
c.126A>T (p.Val42=)
 gnomAD v4
12g.66541883T>CCA480703165GRIP1c.429A>G (p.Val143=)
c.204A>G (p.Val68=)
c.36A>G (p.Val12=)
c.282A>G (p.Val94=)
c.123A>G (p.Val41=)
c.207A>G (p.Val69=)
c.126A>G (p.Val42=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.66541883T>GCA480703166GRIP1c.429A>C (p.Val143=)
c.204A>C (p.Val68=)
c.36A>C (p.Val12=)
c.282A>C (p.Val94=)
c.123A>C (p.Val41=)
c.207A>C (p.Val69=)
c.126A>C (p.Val42=)
12g.66541883T=CA2043081318GRIP1c.429A= (p.Val143=)
c.204A= (p.Val68=)
c.36A= (p.Val12=)
c.282A= (p.Val94=)
c.123A= (p.Val41=)
c.207A= (p.Val69=)
c.126A= (p.Val42=)
12g.66541884A>CCA385680277GRIP1c.428T>G (p.Val143Gly)
c.203T>G (p.Val68Gly)
c.35T>G (p.Val12Gly)
c.281T>G (p.Val94Gly)
c.122T>G (p.Val41Gly)
c.206T>G (p.Val69Gly)
c.125T>G (p.Val42Gly)
12g.66541884A>GCA385680276GRIP1c.428T>C (p.Val143Ala)
c.203T>C (p.Val68Ala)
c.35T>C (p.Val12Ala)
c.281T>C (p.Val94Ala)
c.122T>C (p.Val41Ala)
c.206T>C (p.Val69Ala)
c.125T>C (p.Val42Ala)
12g.66541884A>TCA385680275GRIP1c.428T>A (p.Val143Glu)
c.203T>A (p.Val68Glu)
c.35T>A (p.Val12Glu)
c.281T>A (p.Val94Glu)
c.122T>A (p.Val41Glu)
c.206T>A (p.Val69Glu)
c.125T>A (p.Val42Glu)
12g.66541885C>ACA385680278GRIP1c.427G>T (p.Val143Leu)
c.202G>T (p.Val68Leu)
c.34G>T (p.Val12Leu)
c.280G>T (p.Val94Leu)
c.121G>T (p.Val41Leu)
c.205G>T (p.Val69Leu)
c.124G>T (p.Val42Leu)
12g.66541885C>GCA385680279GRIP1c.427G>C (p.Val143Leu)
c.202G>C (p.Val68Leu)
c.34G>C (p.Val12Leu)
c.280G>C (p.Val94Leu)
c.121G>C (p.Val41Leu)
c.205G>C (p.Val69Leu)
c.124G>C (p.Val42Leu)
12g.66541885C>TCA385680280GRIP1c.427G>A (p.Val143Ile)
c.202G>A (p.Val68Ile)
c.34G>A (p.Val12Ile)
c.280G>A (p.Val94Ile)
c.121G>A (p.Val41Ile)
c.205G>A (p.Val69Ile)
c.124G>A (p.Val42Ile)
12g.66541886C>ACA480703167GRIP1c.426G>T (p.Thr142=)
c.201G>T (p.Thr67=)
c.33G>T (p.Thr11=)
c.279G>T (p.Thr93=)
c.120G>T (p.Thr40=)
c.204G>T (p.Thr68=)
c.123G>T (p.Thr41=)
12g.66541886C=CA2043081319GRIP1c.426G= (p.Thr142=)
c.201G= (p.Thr67=)
c.33G= (p.Thr11=)
c.279G= (p.Thr93=)
c.120G= (p.Thr40=)
c.204G= (p.Thr68=)
c.123G= (p.Thr41=)
12g.66541886C>GCA480703168GRIP1c.426G>C (p.Thr142=)
c.201G>C (p.Thr67=)
c.33G>C (p.Thr11=)
c.279G>C (p.Thr93=)
c.120G>C (p.Thr40=)
c.204G>C (p.Thr68=)
c.123G>C (p.Thr41=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.66541886C>TCA239016928GRIP1c.426G>A (p.Thr142=)
c.201G>A (p.Thr67=)
c.33G>A (p.Thr11=)
c.279G>A (p.Thr93=)
c.120G>A (p.Thr40=)
c.204G>A (p.Thr68=)
c.123G>A (p.Thr41=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.66541887G>ACA6674722GRIP1c.425C>T (p.Thr142Met)
c.200C>T (p.Thr67Met)
c.32C>T (p.Thr11Met)
c.278C>T (p.Thr93Met)
c.119C>T (p.Thr40Met)
c.203C>T (p.Thr68Met)
c.122C>T (p.Thr41Met)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
12g.66541887G>CCA385680281GRIP1c.425C>G (p.Thr142Arg)
c.200C>G (p.Thr67Arg)
c.32C>G (p.Thr11Arg)
c.278C>G (p.Thr93Arg)
c.119C>G (p.Thr40Arg)
c.203C>G (p.Thr68Arg)
c.122C>G (p.Thr41Arg)
12g.66541887G=CA2043081320GRIP1c.425C= (p.Thr142=)
c.200C= (p.Thr67=)
c.32C= (p.Thr11=)
c.278C= (p.Thr93=)
c.119C= (p.Thr40=)
c.203C= (p.Thr68=)
c.122C= (p.Thr41=)
12g.66541887G>TCA385680282GRIP1c.425C>A (p.Thr142Lys)
c.200C>A (p.Thr67Lys)
c.32C>A (p.Thr11Lys)
c.278C>A (p.Thr93Lys)
c.119C>A (p.Thr40Lys)
c.203C>A (p.Thr68Lys)
c.122C>A (p.Thr41Lys)
12g.66541888T>ACA385680283GRIP1c.424A>T (p.Thr142Ser)
c.199A>T (p.Thr67Ser)
c.31A>T (p.Thr11Ser)
c.277A>T (p.Thr93Ser)
c.118A>T (p.Thr40Ser)
c.202A>T (p.Thr68Ser)
c.121A>T (p.Thr41Ser)
12g.66541888T>CCA385680284GRIP1c.424A>G (p.Thr142Ala)
c.199A>G (p.Thr67Ala)
c.31A>G (p.Thr11Ala)
c.277A>G (p.Thr93Ala)
c.118A>G (p.Thr40Ala)
c.202A>G (p.Thr68Ala)
c.121A>G (p.Thr41Ala)
12g.66541888T>GCA385680285GRIP1c.424A>C (p.Thr142Pro)
c.199A>C (p.Thr67Pro)
c.31A>C (p.Thr11Pro)
c.277A>C (p.Thr93Pro)
c.118A>C (p.Thr40Pro)
c.202A>C (p.Thr68Pro)
c.121A>C (p.Thr41Pro)
12g.66541889C>ACA480703169GRIP1c.423G>T (p.Leu141=)
c.198G>T (p.Leu66=)
c.30G>T (p.Leu10=)
c.276G>T (p.Leu92=)
c.117G>T (p.Leu39=)
c.201G>T (p.Leu67=)
c.120G>T (p.Leu40=)
12g.66541889C>GCA480703170GRIP1c.423G>C (p.Leu141=)
c.198G>C (p.Leu66=)
c.30G>C (p.Leu10=)
c.276G>C (p.Leu92=)
c.117G>C (p.Leu39=)
c.201G>C (p.Leu67=)
c.120G>C (p.Leu40=)
 ClinVar
12g.66541889C>TCA480703171GRIP1c.423G>A (p.Leu141=)
c.198G>A (p.Leu66=)
c.30G>A (p.Leu10=)
c.276G>A (p.Leu92=)
c.117G>A (p.Leu39=)
c.201G>A (p.Leu67=)
c.120G>A (p.Leu40=)
12g.66541890A>CCA385680286GRIP1c.422T>G (p.Leu141Arg)
c.197T>G (p.Leu66Arg)
c.29T>G (p.Leu10Arg)
c.275T>G (p.Leu92Arg)
c.116T>G (p.Leu39Arg)
c.200T>G (p.Leu67Arg)
c.119T>G (p.Leu40Arg)
 COSMIC COSMIC
12g.66541890A>GCA385680287GRIP1c.422T>C (p.Leu141Pro)
c.197T>C (p.Leu66Pro)
c.29T>C (p.Leu10Pro)
c.275T>C (p.Leu92Pro)
c.116T>C (p.Leu39Pro)
c.200T>C (p.Leu67Pro)
c.119T>C (p.Leu40Pro)
12g.66541890A>TCA385680288GRIP1c.422T>A (p.Leu141Gln)
c.197T>A (p.Leu66Gln)
c.29T>A (p.Leu10Gln)
c.275T>A (p.Leu92Gln)
c.116T>A (p.Leu39Gln)
c.200T>A (p.Leu67Gln)
c.119T>A (p.Leu40Gln)
12g.66541891G>ACA480703172GRIP1c.421C>T (p.Leu141=)
c.196C>T (p.Leu66=)
c.28C>T (p.Leu10=)
c.274C>T (p.Leu92=)
c.115C>T (p.Leu39=)
c.199C>T (p.Leu67=)
c.118C>T (p.Leu40=)
12g.66541891G>CCA385680289GRIP1c.421C>G (p.Leu141Val)
c.196C>G (p.Leu66Val)
c.28C>G (p.Leu10Val)
c.274C>G (p.Leu92Val)
c.115C>G (p.Leu39Val)
c.199C>G (p.Leu67Val)
c.118C>G (p.Leu40Val)
12g.66541891G>TCA385680290GRIP1c.421C>A (p.Leu141Met)
c.196C>A (p.Leu66Met)
c.28C>A (p.Leu10Met)
c.274C>A (p.Leu92Met)
c.115C>A (p.Leu39Met)
c.199C>A (p.Leu67Met)
c.118C>A (p.Leu40Met)
12g.66541892A>CCA480703175GRIP1c.420T>G (p.Gly140=)
c.195T>G (p.Gly65=)
c.27T>G (p.Gly9=)
c.273T>G (p.Gly91=)
c.114T>G (p.Gly38=)
c.198T>G (p.Gly66=)
c.117T>G (p.Gly39=)
12g.66541892A>GCA480703174GRIP1c.420T>C (p.Gly140=)
c.195T>C (p.Gly65=)
c.27T>C (p.Gly9=)
c.273T>C (p.Gly91=)
c.114T>C (p.Gly38=)
c.198T>C (p.Gly66=)
c.117T>C (p.Gly39=)
 COSMIC
12g.66541892A>TCA480703173GRIP1c.420T>A (p.Gly140=)
c.195T>A (p.Gly65=)
c.27T>A (p.Gly9=)
c.273T>A (p.Gly91=)
c.114T>A (p.Gly38=)
c.198T>A (p.Gly66=)
c.117T>A (p.Gly39=)
12g.66541893C>ACA385680292GRIP1c.419G>T (p.Gly140Val)
c.194G>T (p.Gly65Val)
c.26G>T (p.Gly9Val)
c.272G>T (p.Gly91Val)
c.113G>T (p.Gly38Val)
c.197G>T (p.Gly66Val)
c.116G>T (p.Gly39Val)
12g.66541893C>GCA385680293GRIP1c.419G>C (p.Gly140Ala)
c.194G>C (p.Gly65Ala)
c.26G>C (p.Gly9Ala)
c.272G>C (p.Gly91Ala)
c.113G>C (p.Gly38Ala)
c.197G>C (p.Gly66Ala)
c.116G>C (p.Gly39Ala)
 gnomAD v4
12g.66541893C>TCA385680291GRIP1c.419G>A (p.Gly140Asp)
c.194G>A (p.Gly65Asp)
c.26G>A (p.Gly9Asp)
c.272G>A (p.Gly91Asp)
c.113G>A (p.Gly38Asp)
c.197G>A (p.Gly66Asp)
c.116G>A (p.Gly39Asp)
12g.66541894C>ACA385680294GRIP1c.418G>T (p.Gly140Cys)
c.193G>T (p.Gly65Cys)
c.25G>T (p.Gly9Cys)
c.271G>T (p.Gly91Cys)
c.112G>T (p.Gly38Cys)
c.196G>T (p.Gly66Cys)
c.115G>T (p.Gly39Cys)
12g.66541894C>GCA385680295GRIP1c.418G>C (p.Gly140Arg)
c.193G>C (p.Gly65Arg)
c.25G>C (p.Gly9Arg)
c.271G>C (p.Gly91Arg)
c.112G>C (p.Gly38Arg)
c.196G>C (p.Gly66Arg)
c.115G>C (p.Gly39Arg)
12g.66541894C>TCA385680296GRIP1c.418G>A (p.Gly140Ser)
c.193G>A (p.Gly65Ser)
c.25G>A (p.Gly9Ser)
c.271G>A (p.Gly91Ser)
c.112G>A (p.Gly38Ser)
c.196G>A (p.Gly66Ser)
c.115G>A (p.Gly39Ser)
 gnomAD v4
12g.66541895C>ACA480703178GRIP1c.417G>T (p.Leu139=)
c.192G>T (p.Leu64=)
c.24G>T (p.Leu8=)
c.270G>T (p.Leu90=)
c.111G>T (p.Leu37=)
c.195G>T (p.Leu65=)
c.114G>T (p.Leu38=)
12g.66541895C>GCA480703177GRIP1c.417G>C (p.Leu139=)
c.192G>C (p.Leu64=)
c.24G>C (p.Leu8=)
c.270G>C (p.Leu90=)
c.111G>C (p.Leu37=)
c.195G>C (p.Leu65=)
c.114G>C (p.Leu38=)
12g.66541895C>TCA480703176GRIP1c.417G>A (p.Leu139=)
c.192G>A (p.Leu64=)
c.24G>A (p.Leu8=)
c.270G>A (p.Leu90=)
c.111G>A (p.Leu37=)
c.195G>A (p.Leu65=)
c.114G>A (p.Leu38=)
12g.66541896A>CCA385680297GRIP1c.416T>G (p.Leu139Arg)
c.191T>G (p.Leu64Arg)
c.23T>G (p.Leu8Arg)
c.269T>G (p.Leu90Arg)
c.110T>G (p.Leu37Arg)
c.194T>G (p.Leu65Arg)
c.113T>G (p.Leu38Arg)
12g.66541896A>GCA385680298GRIP1c.416T>C (p.Leu139Pro)
c.191T>C (p.Leu64Pro)
c.23T>C (p.Leu8Pro)
c.269T>C (p.Leu90Pro)
c.110T>C (p.Leu37Pro)
c.194T>C (p.Leu65Pro)
c.113T>C (p.Leu38Pro)
12g.66541896A>TCA385680299GRIP1c.416T>A (p.Leu139Gln)
c.191T>A (p.Leu64Gln)
c.23T>A (p.Leu8Gln)
c.269T>A (p.Leu90Gln)
c.110T>A (p.Leu37Gln)
c.194T>A (p.Leu65Gln)
c.113T>A (p.Leu38Gln)
12g.66541897G>ACA480703179GRIP1c.415C>T (p.Leu139=)
c.190C>T (p.Leu64=)
c.22C>T (p.Leu8=)
c.268C>T (p.Leu90=)
c.109C>T (p.Leu37=)
c.193C>T (p.Leu65=)
c.112C>T (p.Leu38=)
12g.66541897G>CCA385680300GRIP1c.415C>G (p.Leu139Val)
c.190C>G (p.Leu64Val)
c.22C>G (p.Leu8Val)
c.268C>G (p.Leu90Val)
c.109C>G (p.Leu37Val)
c.193C>G (p.Leu65Val)
c.112C>G (p.Leu38Val)
12g.66541897G>TCA385680301GRIP1c.415C>A (p.Leu139Met)
c.190C>A (p.Leu64Met)
c.22C>A (p.Leu8Met)
c.268C>A (p.Leu90Met)
c.109C>A (p.Leu37Met)
c.193C>A (p.Leu65Met)
c.112C>A (p.Leu38Met)
12g.66541898G>ACA6674723GRIP1c.414C>T (p.Thr138=)
c.189C>T (p.Thr63=)
c.21C>T (p.Thr7=)
c.267C>T (p.Thr89=)
c.108C>T (p.Thr36=)
c.192C>T (p.Thr64=)
c.111C>T (p.Thr37=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541898G>CCA480703181GRIP1c.414C>G (p.Thr138=)
c.189C>G (p.Thr63=)
c.21C>G (p.Thr7=)
c.267C>G (p.Thr89=)
c.108C>G (p.Thr36=)
c.192C>G (p.Thr64=)
c.111C>G (p.Thr37=)
12g.66541898G=CA2043081321GRIP1c.414C= (p.Thr138=)
c.189C= (p.Thr63=)
c.21C= (p.Thr7=)
c.267C= (p.Thr89=)
c.108C= (p.Thr36=)
c.192C= (p.Thr64=)
c.111C= (p.Thr37=)
12g.66541898G>TCA480703180GRIP1c.414C>A (p.Thr138=)
c.189C>A (p.Thr63=)
c.21C>A (p.Thr7=)
c.267C>A (p.Thr89=)
c.108C>A (p.Thr36=)
c.192C>A (p.Thr64=)
c.111C>A (p.Thr37=)
12g.66541899G>ACA6674724GRIP1c.413C>T (p.Thr138Ile)
c.188C>T (p.Thr63Ile)
c.20C>T (p.Thr7Ile)
c.266C>T (p.Thr89Ile)
c.107C>T (p.Thr36Ile)
c.191C>T (p.Thr64Ile)
c.110C>T (p.Thr37Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541899G>CCA385680302GRIP1c.413C>G (p.Thr138Ser)
c.188C>G (p.Thr63Ser)
c.20C>G (p.Thr7Ser)
c.266C>G (p.Thr89Ser)
c.107C>G (p.Thr36Ser)
c.191C>G (p.Thr64Ser)
c.110C>G (p.Thr37Ser)
12g.66541899G=CA2043081322GRIP1c.413C= (p.Thr138=)
c.188C= (p.Thr63=)
c.20C= (p.Thr7=)
c.266C= (p.Thr89=)
c.107C= (p.Thr36=)
c.191C= (p.Thr64=)
c.110C= (p.Thr37=)
12g.66541899G>TCA385680303GRIP1c.413C>A (p.Thr138Asn)
c.188C>A (p.Thr63Asn)
c.20C>A (p.Thr7Asn)
c.266C>A (p.Thr89Asn)
c.107C>A (p.Thr36Asn)
c.191C>A (p.Thr64Asn)
c.110C>A (p.Thr37Asn)
12g.66541900T>ACA385680306GRIP1c.412A>T (p.Thr138Ser)
c.187A>T (p.Thr63Ser)
c.19A>T (p.Thr7Ser)
c.265A>T (p.Thr89Ser)
c.106A>T (p.Thr36Ser)
c.190A>T (p.Thr64Ser)
c.109A>T (p.Thr37Ser)
12g.66541900T>CCA385680304GRIP1c.412A>G (p.Thr138Ala)
c.187A>G (p.Thr63Ala)
c.19A>G (p.Thr7Ala)
c.265A>G (p.Thr89Ala)
c.106A>G (p.Thr36Ala)
c.190A>G (p.Thr64Ala)
c.109A>G (p.Thr37Ala)
 COSMIC COSMIC
12g.66541900T>GCA385680305GRIP1c.412A>C (p.Thr138Pro)
c.187A>C (p.Thr63Pro)
c.19A>C (p.Thr7Pro)
c.265A>C (p.Thr89Pro)
c.106A>C (p.Thr36Pro)
c.190A>C (p.Thr64Pro)
c.109A>C (p.Thr37Pro)
12g.66541901A>CCA480703182GRIP1c.411T>G (p.Thr137=)
c.186T>G (p.Thr62=)
c.18T>G (p.Thr6=)
c.264T>G (p.Thr88=)
c.105T>G (p.Thr35=)
c.189T>G (p.Thr63=)
c.108T>G (p.Thr36=)
12g.66541901A>GCA480703184GRIP1c.411T>C (p.Thr137=)
c.186T>C (p.Thr62=)
c.18T>C (p.Thr6=)
c.264T>C (p.Thr88=)
c.105T>C (p.Thr35=)
c.189T>C (p.Thr63=)
c.108T>C (p.Thr36=)
12g.66541901A>TCA480703186GRIP1c.411T>A (p.Thr137=)
c.186T>A (p.Thr62=)
c.18T>A (p.Thr6=)
c.264T>A (p.Thr88=)
c.105T>A (p.Thr35=)
c.189T>A (p.Thr63=)
c.108T>A (p.Thr36=)
12g.66541902G>ACA385680307GRIP1c.410C>T (p.Thr137Ile)
c.185C>T (p.Thr62Ile)
c.17C>T (p.Thr6Ile)
c.263C>T (p.Thr88Ile)
c.104C>T (p.Thr35Ile)
c.188C>T (p.Thr63Ile)
c.107C>T (p.Thr36Ile)
 gnomAD v4
12g.66541902G>CCA385680308GRIP1c.410C>G (p.Thr137Ser)
c.185C>G (p.Thr62Ser)
c.17C>G (p.Thr6Ser)
c.263C>G (p.Thr88Ser)
c.104C>G (p.Thr35Ser)
c.188C>G (p.Thr63Ser)
c.107C>G (p.Thr36Ser)
12g.66541902G>TCA385680309GRIP1c.410C>A (p.Thr137Asn)
c.185C>A (p.Thr62Asn)
c.17C>A (p.Thr6Asn)
c.263C>A (p.Thr88Asn)
c.104C>A (p.Thr35Asn)
c.188C>A (p.Thr63Asn)
c.107C>A (p.Thr36Asn)
12g.66541903T>ACA385680310GRIP1c.409A>T (p.Thr137Ser)
c.184A>T (p.Thr62Ser)
c.16A>T (p.Thr6Ser)
c.262A>T (p.Thr88Ser)
c.103A>T (p.Thr35Ser)
c.187A>T (p.Thr63Ser)
c.106A>T (p.Thr36Ser)
12g.66541903T>CCA385680311GRIP1c.409A>G (p.Thr137Ala)
c.184A>G (p.Thr62Ala)
c.16A>G (p.Thr6Ala)
c.262A>G (p.Thr88Ala)
c.103A>G (p.Thr35Ala)
c.187A>G (p.Thr63Ala)
c.106A>G (p.Thr36Ala)
12g.66541903T>GCA385680312GRIP1c.409A>C (p.Thr137Pro)
c.184A>C (p.Thr62Pro)
c.16A>C (p.Thr6Pro)
c.262A>C (p.Thr88Pro)
c.103A>C (p.Thr35Pro)
c.187A>C (p.Thr63Pro)
c.106A>C (p.Thr36Pro)
12g.66541904G>ACA480703199GRIP1c.408C>T (p.Gly136=)
c.183C>T (p.Gly61=)
c.15C>T (p.Gly5=)
c.261C>T (p.Gly87=)
c.102C>T (p.Gly34=)
c.186C>T (p.Gly62=)
c.105C>T (p.Gly35=)
 dbSNP
12g.66541904G>CCA480703201GRIP1c.408C>G (p.Gly136=)
c.183C>G (p.Gly61=)
c.15C>G (p.Gly5=)
c.261C>G (p.Gly87=)
c.102C>G (p.Gly34=)
c.186C>G (p.Gly62=)
c.105C>G (p.Gly35=)
12g.66541904G=CA2043081323GRIP1c.408C= (p.Gly136=)
c.183C= (p.Gly61=)
c.15C= (p.Gly5=)
c.261C= (p.Gly87=)
c.102C= (p.Gly34=)
c.186C= (p.Gly62=)
c.105C= (p.Gly35=)
12g.66541904G>TCA480703204GRIP1c.408C>A (p.Gly136=)
c.183C>A (p.Gly61=)
c.15C>A (p.Gly5=)
c.261C>A (p.Gly87=)
c.102C>A (p.Gly34=)
c.186C>A (p.Gly62=)
c.105C>A (p.Gly35=)
12g.66541905C>ACA385680313GRIP1c.407G>T (p.Gly136Val)
c.182G>T (p.Gly61Val)
c.14G>T (p.Gly5Val)
c.260G>T (p.Gly87Val)
c.101G>T (p.Gly34Val)
c.185G>T (p.Gly62Val)
c.104G>T (p.Gly35Val)
12g.66541905C>GCA385680314GRIP1c.407G>C (p.Gly136Ala)
c.182G>C (p.Gly61Ala)
c.14G>C (p.Gly5Ala)
c.260G>C (p.Gly87Ala)
c.101G>C (p.Gly34Ala)
c.185G>C (p.Gly62Ala)
c.104G>C (p.Gly35Ala)
 gnomAD v4
12g.66541905C>TCA385680315GRIP1c.407G>A (p.Gly136Asp)
c.182G>A (p.Gly61Asp)
c.14G>A (p.Gly5Asp)
c.260G>A (p.Gly87Asp)
c.101G>A (p.Gly34Asp)
c.185G>A (p.Gly62Asp)
c.104G>A (p.Gly35Asp)
12g.66541906C>ACA385680316GRIP1c.406G>T (p.Gly136Cys)
c.181G>T (p.Gly61Cys)
c.13G>T (p.Gly5Cys)
c.259G>T (p.Gly87Cys)
c.100G>T (p.Gly34Cys)
c.184G>T (p.Gly62Cys)
c.103G>T (p.Gly35Cys)
12g.66541906C>GCA385680317GRIP1c.406G>C (p.Gly136Arg)
c.181G>C (p.Gly61Arg)
c.13G>C (p.Gly5Arg)
c.259G>C (p.Gly87Arg)
c.100G>C (p.Gly34Arg)
c.184G>C (p.Gly62Arg)
c.103G>C (p.Gly35Arg)
12g.66541906C>TCA385680318GRIP1c.406G>A (p.Gly136Ser)
c.181G>A (p.Gly61Ser)
c.13G>A (p.Gly5Ser)
c.259G>A (p.Gly87Ser)
c.100G>A (p.Gly34Ser)
c.184G>A (p.Gly62Ser)
c.103G>A (p.Gly35Ser)
 gnomAD v4
12g.66541907T>ACA385680319GRIP1c.405A>T (p.Glu135Asp)
c.180A>T (p.Glu60Asp)
c.12A>T (p.Glu4Asp)
c.258A>T (p.Glu86Asp)
c.99A>T (p.Glu33Asp)
c.183A>T (p.Glu61Asp)
c.102A>T (p.Glu34Asp)
12g.66541907T>CCA480703218GRIP1c.405A>G (p.Glu135=)
c.180A>G (p.Glu60=)
c.12A>G (p.Glu4=)
c.258A>G (p.Glu86=)
c.99A>G (p.Glu33=)
c.183A>G (p.Glu61=)
c.102A>G (p.Glu34=)
12g.66541907T>GCA385680320GRIP1c.405A>C (p.Glu135Asp)
c.180A>C (p.Glu60Asp)
c.12A>C (p.Glu4Asp)
c.258A>C (p.Glu86Asp)
c.99A>C (p.Glu33Asp)
c.183A>C (p.Glu61Asp)
c.102A>C (p.Glu34Asp)
12g.66541908T>ACA385680321GRIP1c.404A>T (p.Glu135Val)
c.179A>T (p.Glu60Val)
c.11A>T (p.Glu4Val)
c.257A>T (p.Glu86Val)
c.98A>T (p.Glu33Val)
c.182A>T (p.Glu61Val)
c.101A>T (p.Glu34Val)
12g.66541908T>CCA385680323GRIP1c.404A>G (p.Glu135Gly)
c.179A>G (p.Glu60Gly)
c.11A>G (p.Glu4Gly)
c.257A>G (p.Glu86Gly)
c.98A>G (p.Glu33Gly)
c.182A>G (p.Glu61Gly)
c.101A>G (p.Glu34Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.66541908T>GCA385680322GRIP1c.404A>C (p.Glu135Ala)
c.179A>C (p.Glu60Ala)
c.11A>C (p.Glu4Ala)
c.257A>C (p.Glu86Ala)
c.98A>C (p.Glu33Ala)
c.182A>C (p.Glu61Ala)
c.101A>C (p.Glu34Ala)
12g.66541908T=CA2043081324GRIP1c.404A= (p.Glu135=)
c.179A= (p.Glu60=)
c.11A= (p.Glu4=)
c.257A= (p.Glu86=)
c.98A= (p.Glu33=)
c.182A= (p.Glu61=)
c.101A= (p.Glu34=)
12g.66541909C>ACA385680324GRIP1c.403G>T (p.Glu135Ter)
c.178G>T (p.Glu60Ter)
c.10G>T (p.Glu4Ter)
c.256G>T (p.Glu86Ter)
c.97G>T (p.Glu33Ter)
c.181G>T (p.Glu61Ter)
c.100G>T (p.Glu34Ter)
12g.66541909C=CA2043081325GRIP1c.403G= (p.Glu135=)
c.178G= (p.Glu60=)
c.10G= (p.Glu4=)
c.256G= (p.Glu86=)
c.97G= (p.Glu33=)
c.181G= (p.Glu61=)
c.100G= (p.Glu34=)
12g.66541909C>GCA385680325GRIP1c.403G>C (p.Glu135Gln)
c.178G>C (p.Glu60Gln)
c.10G>C (p.Glu4Gln)
c.256G>C (p.Glu86Gln)
c.97G>C (p.Glu33Gln)
c.181G>C (p.Glu61Gln)
c.100G>C (p.Glu34Gln)
 gnomAD v4
12g.66541909C>TCA6674725GRIP1c.403G>A (p.Glu135Lys)
c.178G>A (p.Glu60Lys)
c.10G>A (p.Glu4Lys)
c.256G>A (p.Glu86Lys)
c.97G>A (p.Glu33Lys)
c.181G>A (p.Glu61Lys)
c.100G>A (p.Glu34Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541909_66541912delinsCCTTCA2043081326GRIP1c.400_403delinsAAGG (p.Lys134=)
c.175_178delinsAAGG (p.Lys59=)
c.7_10delinsAAGG (p.Lys3=)
c.253_256delinsAAGG (p.Lys85=)
c.94_97delinsAAGG (p.Lys32=)
c.178_181delinsAAGG (p.Lys60=)
c.97_100delinsAAGG (p.Lys33=)
12g.66541910C>ACA385680326GRIP1c.402G>T (p.Lys134Asn)
c.177G>T (p.Lys59Asn)
c.9G>T (p.Lys3Asn)
c.255G>T (p.Lys85Asn)
c.96G>T (p.Lys32Asn)
c.180G>T (p.Lys60Asn)
c.99G>T (p.Lys33Asn)
12g.66541910C=CA2043081327GRIP1c.402G= (p.Lys134=)
c.177G= (p.Lys59=)
c.9G= (p.Lys3=)
c.255G= (p.Lys85=)
c.96G= (p.Lys32=)
c.180G= (p.Lys60=)
c.99G= (p.Lys33=)
12g.66541910C>GCA385680327GRIP1c.402G>C (p.Lys134Asn)
c.177G>C (p.Lys59Asn)
c.9G>C (p.Lys3Asn)
c.255G>C (p.Lys85Asn)
c.96G>C (p.Lys32Asn)
c.180G>C (p.Lys60Asn)
c.99G>C (p.Lys33Asn)
12g.66541910C>TCA480703233GRIP1c.402G>A (p.Lys134=)
c.177G>A (p.Lys59=)
c.9G>A (p.Lys3=)
c.255G>A (p.Lys85=)
c.96G>A (p.Lys32=)
c.180G>A (p.Lys60=)
c.99G>A (p.Lys33=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541914_66541916delCA385680328GRIP1c.400_402del (p.Lys134del)
c.175_177del (p.Lys59del)
c.7_9del (p.Lys3del)
c.253_255del (p.Lys85del)
c.94_96del (p.Lys32del)
c.178_180del (p.Lys60del)
c.97_99del (p.Lys33del)
 dbSNP
12g.66541911T>ACA385680329GRIP1c.401A>T (p.Lys134Met)
c.176A>T (p.Lys59Met)
c.8A>T (p.Lys3Met)
c.254A>T (p.Lys85Met)
c.95A>T (p.Lys32Met)
c.179A>T (p.Lys60Met)
c.98A>T (p.Lys33Met)
12g.66541911T>CCA385680330GRIP1c.401A>G (p.Lys134Arg)
c.176A>G (p.Lys59Arg)
c.8A>G (p.Lys3Arg)
c.254A>G (p.Lys85Arg)
c.95A>G (p.Lys32Arg)
c.179A>G (p.Lys60Arg)
c.98A>G (p.Lys33Arg)
 dbSNP gnomAD v2 gnomAD v4
12g.66541911T>GCA385680331GRIP1c.401A>C (p.Lys134Thr)
c.176A>C (p.Lys59Thr)
c.8A>C (p.Lys3Thr)
c.254A>C (p.Lys85Thr)
c.95A>C (p.Lys32Thr)
c.179A>C (p.Lys60Thr)
c.98A>C (p.Lys33Thr)
12g.66541911T=CA2043081328GRIP1c.401A= (p.Lys134=)
c.176A= (p.Lys59=)
c.8A= (p.Lys3=)
c.254A= (p.Lys85=)
c.95A= (p.Lys32=)
c.179A= (p.Lys60=)
c.98A= (p.Lys33=)
12g.66541912T>ACA385680332GRIP1c.400A>T (p.Lys134Ter)
c.175A>T (p.Lys59Ter)
c.7A>T (p.Lys3Ter)
c.253A>T (p.Lys85Ter)
c.94A>T (p.Lys32Ter)
c.178A>T (p.Lys60Ter)
c.97A>T (p.Lys33Ter)
12g.66541912T>CCA385680333GRIP1c.400A>G (p.Lys134Glu)
c.175A>G (p.Lys59Glu)
c.7A>G (p.Lys3Glu)
c.253A>G (p.Lys85Glu)
c.94A>G (p.Lys32Glu)
c.178A>G (p.Lys60Glu)
c.97A>G (p.Lys33Glu)
12g.66541912T>GCA385680334GRIP1c.400A>C (p.Lys134Gln)
c.175A>C (p.Lys59Gln)
c.7A>C (p.Lys3Gln)
c.253A>C (p.Lys85Gln)
c.94A>C (p.Lys32Gln)
c.178A>C (p.Lys60Gln)
c.97A>C (p.Lys33Gln)
12g.66541913C>ACA385680336GRIP1c.399G>T (p.Lys133Asn)
c.174G>T (p.Lys58Asn)
c.6G>T (p.Lys2Asn)
c.252G>T (p.Lys84Asn)
c.93G>T (p.Lys31Asn)
c.177G>T (p.Lys59Asn)
c.96G>T (p.Lys32Asn)
12g.66541913C>GCA385680335GRIP1c.399G>C (p.Lys133Asn)
c.174G>C (p.Lys58Asn)
c.6G>C (p.Lys2Asn)
c.252G>C (p.Lys84Asn)
c.93G>C (p.Lys31Asn)
c.177G>C (p.Lys59Asn)
c.96G>C (p.Lys32Asn)
12g.66541913C>TCA480703251GRIP1c.399G>A (p.Lys133=)
c.174G>A (p.Lys58=)
c.6G>A (p.Lys2=)
c.252G>A (p.Lys84=)
c.93G>A (p.Lys31=)
c.177G>A (p.Lys59=)
c.96G>A (p.Lys32=)
12g.66541914T>ACA385680337GRIP1c.398A>T (p.Lys133Met)
c.173A>T (p.Lys58Met)
c.5A>T (p.Lys2Met)
c.251A>T (p.Lys84Met)
c.92A>T (p.Lys31Met)
c.176A>T (p.Lys59Met)
c.95A>T (p.Lys32Met)
12g.66541914T>CCA385680338GRIP1c.398A>G (p.Lys133Arg)
c.173A>G (p.Lys58Arg)
c.5A>G (p.Lys2Arg)
c.251A>G (p.Lys84Arg)
c.92A>G (p.Lys31Arg)
c.176A>G (p.Lys59Arg)
c.95A>G (p.Lys32Arg)
12g.66541914T>GCA385680339GRIP1c.398A>C (p.Lys133Thr)
c.173A>C (p.Lys58Thr)
c.5A>C (p.Lys2Thr)
c.251A>C (p.Lys84Thr)
c.92A>C (p.Lys31Thr)
c.176A>C (p.Lys59Thr)
c.95A>C (p.Lys32Thr)
12g.66541915T>ACA385680340GRIP1c.397A>T (p.Lys133Ter)
c.172A>T (p.Lys58Ter)
c.4A>T (p.Lys2Ter)
c.250A>T (p.Lys84Ter)
c.91A>T (p.Lys31Ter)
c.175A>T (p.Lys59Ter)
c.94A>T (p.Lys32Ter)
12g.66541915T>CCA385680341GRIP1c.397A>G (p.Lys133Glu)
c.172A>G (p.Lys58Glu)
c.4A>G (p.Lys2Glu)
c.250A>G (p.Lys84Glu)
c.91A>G (p.Lys31Glu)
c.175A>G (p.Lys59Glu)
c.94A>G (p.Lys32Glu)
12g.66541915T>GCA385680342GRIP1c.397A>C (p.Lys133Gln)
c.172A>C (p.Lys58Gln)
c.4A>C (p.Lys2Gln)
c.250A>C (p.Lys84Gln)
c.91A>C (p.Lys31Gln)
c.175A>C (p.Lys59Gln)
c.94A>C (p.Lys32Gln)
12g.66541916C>ACA385680343GRIP1c.396G>T (p.Met132Ile)
c.171G>T (p.Met57Ile)
c.3G>T (p.Met1Ile)
c.249G>T (p.Met83Ile)
c.90G>T (p.Met30Ile)
c.174G>T (p.Met58Ile)
c.93G>T (p.Met31Ile)
12g.66541916C>GCA385680344GRIP1c.396G>C (p.Met132Ile)
c.171G>C (p.Met57Ile)
c.3G>C (p.Met1Ile)
c.249G>C (p.Met83Ile)
c.90G>C (p.Met30Ile)
c.174G>C (p.Met58Ile)
c.93G>C (p.Met31Ile)
12g.66541916C>TCA385680345GRIP1c.396G>A (p.Met132Ile)
c.171G>A (p.Met57Ile)
c.3G>A (p.Met1Ile)
c.249G>A (p.Met83Ile)
c.90G>A (p.Met30Ile)
c.174G>A (p.Met58Ile)
c.93G>A (p.Met31Ile)
12g.66541917A>CCA385680346GRIP1c.395T>G (p.Met132Arg)
c.170T>G (p.Met57Arg)
c.2T>G (p.Met1Arg)
c.248T>G (p.Met83Arg)
c.89T>G (p.Met30Arg)
c.173T>G (p.Met58Arg)
c.92T>G (p.Met31Arg)
 gnomAD v4
12g.66541917A>GCA385680347GRIP1c.395T>C (p.Met132Thr)
c.170T>C (p.Met57Thr)
c.2T>C (p.Met1Thr)
c.248T>C (p.Met83Thr)
c.89T>C (p.Met30Thr)
c.173T>C (p.Met58Thr)
c.92T>C (p.Met31Thr)
12g.66541917A>TCA385680348GRIP1c.395T>A (p.Met132Lys)
c.170T>A (p.Met57Lys)
c.2T>A (p.Met1Lys)
c.248T>A (p.Met83Lys)
c.89T>A (p.Met30Lys)
c.173T>A (p.Met58Lys)
c.92T>A (p.Met31Lys)
12g.66541918T>ACA385680351GRIP1c.394A>T (p.Met132Leu)
c.169A>T (p.Met57Leu)
c.1A>T (p.Met1Leu)
c.247A>T (p.Met83Leu)
c.88A>T (p.Met30Leu)
c.172A>T (p.Met58Leu)
c.91A>T (p.Met31Leu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541918T>CCA385680350GRIP1c.394A>G (p.Met132Val)
c.169A>G (p.Met57Val)
c.1A>G (p.Met1Val)
c.247A>G (p.Met83Val)
c.88A>G (p.Met30Val)
c.172A>G (p.Met58Val)
c.91A>G (p.Met31Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541918T>GCA385680349GRIP1c.394A>C (p.Met132Leu)
c.169A>C (p.Met57Leu)
c.1A>C (p.Met1Leu)
c.247A>C (p.Met83Leu)
c.88A>C (p.Met30Leu)
c.172A>C (p.Met58Leu)
c.91A>C (p.Met31Leu)
12g.66541918T=CA2043081329GRIP1c.394A= (p.Met132=)
c.169A= (p.Met57=)
c.1A= (p.Met1=)
c.247A= (p.Met83=)
c.88A= (p.Met30=)
c.172A= (p.Met58=)
c.91A= (p.Met31=)
12g.66541919C>ACA480703280GRIP1c.393G>T (p.Leu131=)
c.168G>T (p.Leu56=)
c.-1G>T (n.-1G>T)
c.246G>T (p.Leu82=)
c.87G>T (p.Leu29=)
c.171G>T (p.Leu57=)
c.90G>T (p.Leu30=)
12g.66541919C>GCA480703278GRIP1c.393G>C (p.Leu131=)
c.168G>C (p.Leu56=)
c.-1G>C (n.-1G>C)
c.246G>C (p.Leu82=)
c.87G>C (p.Leu29=)
c.171G>C (p.Leu57=)
c.90G>C (p.Leu30=)
12g.66541919C>TCA480703276GRIP1c.393G>A (p.Leu131=)
c.168G>A (p.Leu56=)
c.-1G>A (n.-1G>A)
c.246G>A (p.Leu82=)
c.87G>A (p.Leu29=)
c.171G>A (p.Leu57=)
c.90G>A (p.Leu30=)
 COSMIC COSMIC
12g.66541920A>CCA385680352GRIP1c.392T>G (p.Leu131Arg)
c.167T>G (p.Leu56Arg)
c.-2T>G (n.-2T>G)
c.245T>G (p.Leu82Arg)
c.86T>G (p.Leu29Arg)
c.170T>G (p.Leu57Arg)
c.89T>G (p.Leu30Arg)
12g.66541920A>GCA385680353GRIP1c.392T>C (p.Leu131Pro)
c.167T>C (p.Leu56Pro)
c.-2T>C (n.-2T>C)
c.245T>C (p.Leu82Pro)
c.86T>C (p.Leu29Pro)
c.170T>C (p.Leu57Pro)
c.89T>C (p.Leu30Pro)
12g.66541920A>TCA385680354GRIP1c.392T>A (p.Leu131Gln)
c.167T>A (p.Leu56Gln)
c.-2T>A (n.-2T>A)
c.245T>A (p.Leu82Gln)
c.86T>A (p.Leu29Gln)
c.170T>A (p.Leu57Gln)
c.89T>A (p.Leu30Gln)
12g.66541921G>ACA480703288GRIP1c.391C>T (p.Leu131=)
c.166C>T (p.Leu56=)
c.-3C>T (n.-3C>T)
c.244C>T (p.Leu82=)
c.85C>T (p.Leu29=)
c.169C>T (p.Leu57=)
c.88C>T (p.Leu30=)
 gnomAD v4
12g.66541921G>CCA385680355GRIP1c.391C>G (p.Leu131Val)
c.166C>G (p.Leu56Val)
c.-3C>G (n.-3C>G)
c.244C>G (p.Leu82Val)
c.85C>G (p.Leu29Val)
c.169C>G (p.Leu57Val)
c.88C>G (p.Leu30Val)
12g.66541921G>TCA385680356GRIP1c.391C>A (p.Leu131Met)
c.166C>A (p.Leu56Met)
c.-3C>A (n.-3C>A)
c.244C>A (p.Leu82Met)
c.85C>A (p.Leu29Met)
c.169C>A (p.Leu57Met)
c.88C>A (p.Leu30Met)
 gnomAD v4
12g.66541922C>ACA385680357GRIP1c.390G>T (p.Glu130Asp)
c.165G>T (p.Glu55Asp)
c.-4G>T (n.-4G>T)
c.243G>T (p.Glu81Asp)
c.84G>T (p.Glu28Asp)
c.168G>T (p.Glu56Asp)
c.87G>T (p.Glu29Asp)
12g.66541922C=CA2043081330GRIP1c.390G= (p.Glu130=)
c.165G= (p.Glu55=)
c.-4G= (n.-4G=)
c.243G= (p.Glu81=)
c.84G= (p.Glu28=)
c.168G= (p.Glu56=)
c.87G= (p.Glu29=)
12g.66541922C>GCA385680358GRIP1c.390G>C (p.Glu130Asp)
c.165G>C (p.Glu55Asp)
c.-4G>C (n.-4G>C)
c.243G>C (p.Glu81Asp)
c.84G>C (p.Glu28Asp)
c.168G>C (p.Glu56Asp)
c.87G>C (p.Glu29Asp)
12g.66541922C>TCA239016929GRIP1c.390G>A (p.Glu130=)
c.165G>A (p.Glu55=)
c.-4G>A (n.-4G>A)
c.243G>A (p.Glu81=)
c.84G>A (p.Glu28=)
c.168G>A (p.Glu56=)
c.87G>A (p.Glu29=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541923T>ACA385680359GRIP1c.389A>T (p.Glu130Val)
c.164A>T (p.Glu55Val)
c.-5A>T (n.-5A>T)
c.242A>T (p.Glu81Val)
c.83A>T (p.Glu28Val)
c.167A>T (p.Glu56Val)
c.86A>T (p.Glu29Val)
12g.66541923T>CCA385680361GRIP1c.389A>G (p.Glu130Gly)
c.164A>G (p.Glu55Gly)
c.-5A>G (n.-5A>G)
c.242A>G (p.Glu81Gly)
c.83A>G (p.Glu28Gly)
c.167A>G (p.Glu56Gly)
c.86A>G (p.Glu29Gly)
 gnomAD v4
12g.66541923T>GCA385680360GRIP1c.389A>C (p.Glu130Ala)
c.164A>C (p.Glu55Ala)
c.-5A>C (n.-5A>C)
c.242A>C (p.Glu81Ala)
c.83A>C (p.Glu28Ala)
c.167A>C (p.Glu56Ala)
c.86A>C (p.Glu29Ala)
12g.66541924C>ACA385680362GRIP1c.388G>T (p.Glu130Ter)
c.163G>T (p.Glu55Ter)
c.-6G>T (n.-6G>T)
c.241G>T (p.Glu81Ter)
c.82G>T (p.Glu28Ter)
c.166G>T (p.Glu56Ter)
c.85G>T (p.Glu29Ter)
12g.66541924C=CA2043081331GRIP1c.388G= (p.Glu130=)
c.163G= (p.Glu55=)
c.-6G= (n.-6G=)
c.241G= (p.Glu81=)
c.82G= (p.Glu28=)
c.166G= (p.Glu56=)
c.85G= (p.Glu29=)
12g.66541924C>GCA385680363GRIP1c.388G>C (p.Glu130Gln)
c.163G>C (p.Glu55Gln)
c.-6G>C (n.-6G>C)
c.241G>C (p.Glu81Gln)
c.82G>C (p.Glu28Gln)
c.166G>C (p.Glu56Gln)
c.85G>C (p.Glu29Gln)
12g.66541924C>TCA6674726GRIP1c.388G>A (p.Glu130Lys)
c.163G>A (p.Glu55Lys)
c.-6G>A (n.-6G>A)
c.241G>A (p.Glu81Lys)
c.82G>A (p.Glu28Lys)
c.166G>A (p.Glu56Lys)
c.85G>A (p.Glu29Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541925G>ACA239016930GRIP1c.387C>T (p.Val129=)
c.162C>T (p.Val54=)
c.-7C>T (n.-7C>T)
c.240C>T (p.Val80=)
c.81C>T (p.Val27=)
c.165C>T (p.Val55=)
c.84C>T (p.Val28=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.66541925G>CCA6674727GRIP1c.387C>G (p.Val129=)
c.162C>G (p.Val54=)
c.-7C>G (n.-7C>G)
c.240C>G (p.Val80=)
c.81C>G (p.Val27=)
c.165C>G (p.Val55=)
c.84C>G (p.Val28=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541925G=CA2043081332GRIP1c.387C= (p.Val129=)
c.162C= (p.Val54=)
c.-7C= (n.-7C=)
c.240C= (p.Val80=)
c.81C= (p.Val27=)
c.165C= (p.Val55=)
c.84C= (p.Val28=)
12g.66541925G>TCA480703310GRIP1c.387C>A (p.Val129=)
c.162C>A (p.Val54=)
c.-7C>A (n.-7C>A)
c.240C>A (p.Val80=)
c.81C>A (p.Val27=)
c.165C>A (p.Val55=)
c.84C>A (p.Val28=)
12g.66541926A>CCA385680364GRIP1c.386T>G (p.Val129Gly)
c.161T>G (p.Val54Gly)
c.-8T>G (n.-8T>G)
c.239T>G (p.Val80Gly)
c.80T>G (p.Val27Gly)
c.164T>G (p.Val55Gly)
c.83T>G (p.Val28Gly)
12g.66541926A>GCA385680366GRIP1c.386T>C (p.Val129Ala)
c.161T>C (p.Val54Ala)
c.-8T>C (n.-8T>C)
c.239T>C (p.Val80Ala)
c.80T>C (p.Val27Ala)
c.164T>C (p.Val55Ala)
c.83T>C (p.Val28Ala)
12g.66541926A>TCA385680365GRIP1c.386T>A (p.Val129Asp)
c.161T>A (p.Val54Asp)
c.-8T>A (n.-8T>A)
c.239T>A (p.Val80Asp)
c.80T>A (p.Val27Asp)
c.164T>A (p.Val55Asp)
c.83T>A (p.Val28Asp)
12g.66541927C>ACA385680367GRIP1c.385G>T (p.Val129Phe)
c.160G>T (p.Val54Phe)
c.-9G>T (n.-9G>T)
c.238G>T (p.Val80Phe)
c.79G>T (p.Val27Phe)
c.163G>T (p.Val55Phe)
c.82G>T (p.Val28Phe)
12g.66541927C=CA2043081333GRIP1c.385G= (p.Val129=)
c.160G= (p.Val54=)
c.-9G= (n.-9G=)
c.238G= (p.Val80=)
c.79G= (p.Val27=)
c.163G= (p.Val55=)
c.82G= (p.Val28=)
12g.66541927C>GCA385680368GRIP1c.385G>C (p.Val129Leu)
c.160G>C (p.Val54Leu)
c.-9G>C (n.-9G>C)
c.238G>C (p.Val80Leu)
c.79G>C (p.Val27Leu)
c.163G>C (p.Val55Leu)
c.82G>C (p.Val28Leu)
12g.66541927C>TCA6674728GRIP1c.385G>A (p.Val129Ile)
c.160G>A (p.Val54Ile)
c.-9G>A (n.-9G>A)
c.238G>A (p.Val80Ile)
c.79G>A (p.Val27Ile)
c.163G>A (p.Val55Ile)
c.82G>A (p.Val28Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541928G>ACA6674729GRIP1c.384C>T (p.Val128=)
c.159C>T (p.Val53=)
c.-10C>T (n.-10C>T)
c.237C>T (p.Val79=)
c.78C>T (p.Val26=)
c.162C>T (p.Val54=)
c.81C>T (p.Val27=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.66541928G>CCA6674730GRIP1c.384C>G (p.Val128=)
c.159C>G (p.Val53=)
c.-10C>G (n.-10C>G)
c.237C>G (p.Val79=)
c.78C>G (p.Val26=)
c.162C>G (p.Val54=)
c.81C>G (p.Val27=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66541928G=CA2043081334GRIP1c.384C= (p.Val128=)
c.159C= (p.Val53=)
c.-10C= (n.-10C=)
c.237C= (p.Val79=)
c.78C= (p.Val26=)
c.162C= (p.Val54=)
c.81C= (p.Val27=)
12g.66541928G>TCA480703329GRIP1c.384C>A (p.Val128=)
c.159C>A (p.Val53=)
c.-10C>A (n.-10C>A)
c.237C>A (p.Val79=)
c.78C>A (p.Val26=)
c.162C>A (p.Val54=)
c.81C>A (p.Val27=)
 gnomAD v4
12g.66541929A=CA2043081335GRIP1c.383T= (p.Val128=)
c.158T= (p.Val53=)
c.-11T= (n.-11T=)
c.236T= (p.Val79=)
c.77T= (p.Val26=)
c.161T= (p.Val54=)
c.80T= (p.Val27=)
12g.66541929A>CCA385680369GRIP1c.383T>G (p.Val128Gly)
c.158T>G (p.Val53Gly)
c.-11T>G (n.-11T>G)
c.236T>G (p.Val79Gly)
c.77T>G (p.Val26Gly)
c.161T>G (p.Val54Gly)
c.80T>G (p.Val27Gly)
12g.66541929A>GCA6674731GRIP1c.383T>C (p.Val128Ala)
c.158T>C (p.Val53Ala)
c.-11T>C (n.-11T>C)
c.236T>C (p.Val79Ala)
c.77T>C (p.Val26Ala)
c.161T>C (p.Val54Ala)
c.80T>C (p.Val27Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.66541929A>TCA385680370GRIP1c.383T>A (p.Val128Asp)
c.158T>A (p.Val53Asp)
c.-11T>A (n.-11T>A)
c.236T>A (p.Val79Asp)
c.77T>A (p.Val26Asp)
c.161T>A (p.Val54Asp)
c.80T>A (p.Val27Asp)
12g.66541930C>ACA385680371GRIP1c.382G>T (p.Val128Phe)
c.157G>T (p.Val53Phe)
c.-12G>T (n.-12G>T)
c.235G>T (p.Val79Phe)
c.76G>T (p.Val26Phe)
c.160G>T (p.Val54Phe)
c.79G>T (p.Val27Phe)
12g.66541930C>GCA385680372GRIP1c.382G>C (p.Val128Leu)
c.157G>C (p.Val53Leu)
c.-12G>C (n.-12G>C)
c.235G>C (p.Val79Leu)
c.76G>C (p.Val26Leu)
c.160G>C (p.Val54Leu)
c.79G>C (p.Val27Leu)
12g.66541930C>TCA385680373GRIP1c.382G>A (p.Val128Ile)
c.157G>A (p.Val53Ile)
c.-12G>A (n.-12G>A)
c.235G>A (p.Val79Ile)
c.76G>A (p.Val26Ile)
c.160G>A (p.Val54Ile)
c.79G>A (p.Val27Ile)
12g.66541931T>ACA480703340GRIP1c.381A>T (p.Thr127=)
c.156A>T (p.Thr52=)
c.-13A>T (n.-13A>T)
c.234A>T (p.Thr78=)
c.75A>T (p.Thr25=)
c.159A>T (p.Thr53=)
c.78A>T (p.Thr26=)
12g.66541931T>CCA480703344GRIP1c.381A>G (p.Thr127=)
c.156A>G (p.Thr52=)
c.-13A>G (n.-13A>G)
c.234A>G (p.Thr78=)
c.75A>G (p.Thr25=)
c.159A>G (p.Thr53=)
c.78A>G (p.Thr26=)
12g.66541931T>GCA480703341GRIP1c.381A>C (p.Thr127=)
c.156A>C (p.Thr52=)
c.-13A>C (n.-13A>C)
c.234A>C (p.Thr78=)
c.75A>C (p.Thr25=)
c.159A>C (p.Thr53=)
c.78A>C (p.Thr26=)
12g.66541932G>ACA239016931GRIP1c.380C>T (p.Thr127Ile)
c.155C>T (p.Thr52Ile)
c.-14C>T (n.-14C>T)
c.233C>T (p.Thr78Ile)
c.74C>T (p.Thr25Ile)
c.158C>T (p.Thr53Ile)
c.77C>T (p.Thr26Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.66541932G>CCA385680375GRIP1c.380C>G (p.Thr127Arg)
c.155C>G (p.Thr52Arg)
c.-14C>G (n.-14C>G)
c.233C>G (p.Thr78Arg)
c.74C>G (p.Thr25Arg)
c.158C>G (p.Thr53Arg)
c.77C>G (p.Thr26Arg)
12g.66541932G=CA2043081336GRIP1c.380C= (p.Thr127=)
c.155C= (p.Thr52=)
c.-14C= (n.-14C=)
c.233C= (p.Thr78=)
c.74C= (p.Thr25=)
c.158C= (p.Thr53=)
c.77C= (p.Thr26=)
12g.66541932G>TCA385680374GRIP1c.380C>A (p.Thr127Lys)
c.155C>A (p.Thr52Lys)
c.-14C>A (n.-14C>A)
c.233C>A (p.Thr78Lys)
c.74C>A (p.Thr25Lys)
c.158C>A (p.Thr53Lys)
c.77C>A (p.Thr26Lys)
12g.66541933T>ACA6674732GRIP1c.379A>T (p.Thr127Ser)
c.154A>T (p.Thr52Ser)
c.-15A>T (n.-15A>T)
c.232A>T (p.Thr78Ser)
c.73A>T (p.Thr25Ser)
c.157A>T (p.Thr53Ser)
c.76A>T (p.Thr26Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.66541933T>CCA385680377GRIP1c.379A>G (p.Thr127Ala)
c.154A>G (p.Thr52Ala)
c.-15A>G (n.-15A>G)
c.232A>G (p.Thr78Ala)
c.73A>G (p.Thr25Ala)
c.157A>G (p.Thr53Ala)
c.76A>G (p.Thr26Ala)
 dbSNP gnomAD v2 gnomAD v4
12g.66541933T>GCA385680376GRIP1c.379A>C (p.Thr127Pro)
c.154A>C (p.Thr52Pro)
c.-15A>C (n.-15A>C)
c.232A>C (p.Thr78Pro)
c.73A>C (p.Thr25Pro)
c.157A>C (p.Thr53Pro)
c.76A>C (p.Thr26Pro)
12g.66541933T=CA2043081337GRIP1c.379A= (p.Thr127=)
c.154A= (p.Thr52=)
c.-15A= (n.-15A=)
c.232A= (p.Thr78=)
c.73A= (p.Thr25=)
c.157A= (p.Thr53=)
c.76A= (p.Thr26=)
12g.66541934G>ACA480703357GRIP1c.378C>T (p.Ser126=)
c.153C>T (p.Ser51=)
c.-16C>T (n.-16C>T)
c.231C>T (p.Ser77=)
c.72C>T (p.Ser24=)
c.156C>T (p.Ser52=)
c.75C>T (p.Ser25=)
 dbSNP gnomAD v3 gnomAD v4
12g.66541934G>CCA480703359GRIP1c.378C>G (p.Ser126=)
c.153C>G (p.Ser51=)
c.-16C>G (n.-16C>G)
c.231C>G (p.Ser77=)
c.72C>G (p.Ser24=)
c.156C>G (p.Ser52=)
c.75C>G (p.Ser25=)
12g.66541934G=CA2043081338GRIP1c.378C= (p.Ser126=)
c.153C= (p.Ser51=)
c.-16C= (n.-16C=)
c.231C= (p.Ser77=)
c.72C= (p.Ser24=)
c.156C= (p.Ser52=)
c.75C= (p.Ser25=)
12g.66541934G>TCA480703361GRIP1c.378C>A (p.Ser126=)
c.153C>A (p.Ser51=)
c.-16C>A (n.-16C>A)
c.231C>A (p.Ser77=)
c.72C>A (p.Ser24=)
c.156C>A (p.Ser52=)
c.75C>A (p.Ser25=)
12g.66541935G>ACA385680378GRIP1c.377C>T (p.Ser126Phe)
c.152C>T (p.Ser51Phe)
c.-17C>T (n.-17C>T)
c.230C>T (p.Ser77Phe)
c.71C>T (p.Ser24Phe)
c.155C>T (p.Ser52Phe)
c.74C>T (p.Ser25Phe)
12g.66541935G>CCA385680381GRIP1c.377C>G (p.Ser126Cys)
c.152C>G (p.Ser51Cys)
c.-17C>G (n.-17C>G)
c.230C>G (p.Ser77Cys)
c.71C>G (p.Ser24Cys)
c.155C>G (p.Ser52Cys)
c.74C>G (p.Ser25Cys)
12g.66541935G>TCA385680380GRIP1c.377C>A (p.Ser126Tyr)
c.152C>A (p.Ser51Tyr)
c.-17C>A (n.-17C>A)
c.230C>A (p.Ser77Tyr)
c.71C>A (p.Ser24Tyr)
c.155C>A (p.Ser52Tyr)
c.74C>A (p.Ser25Tyr)
12g.66541936A>CCA385680382GRIP1c.376T>G (p.Ser126Ala)
c.151T>G (p.Ser51Ala)
c.-18T>G (n.-18T>G)
c.229T>G (p.Ser77Ala)
c.70T>G (p.Ser24Ala)
c.154T>G (p.Ser52Ala)
c.73T>G (p.Ser25Ala)
12g.66541936A>GCA385680383GRIP1c.376T>C (p.Ser126Pro)
c.151T>C (p.Ser51Pro)
c.-18T>C (n.-18T>C)
c.229T>C (p.Ser77Pro)
c.70T>C (p.Ser24Pro)
c.154T>C (p.Ser52Pro)
c.73T>C (p.Ser25Pro)
12g.66541936A>TCA385680384GRIP1c.376T>A (p.Ser126Thr)
c.151T>A (p.Ser51Thr)
c.-18T>A (n.-18T>A)
c.229T>A (p.Ser77Thr)
c.70T>A (p.Ser24Thr)
c.154T>A (p.Ser52Thr)
c.73T>A (p.Ser25Thr)
12g.66541937G>ACA480703372GRIP1c.375C>T (p.Gly125=)
c.150C>T (p.Gly50=)
c.-19C>T (n.-19C>T)
c.228C>T (p.Gly76=)
c.69C>T (p.Gly23=)
c.153C>T (p.Gly51=)
c.72C>T (p.Gly24=)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.66541937G>CCA480703374GRIP1c.375C>G (p.Gly125=)
c.150C>G (p.Gly50=)
c.-19C>G (n.-19C>G)
c.228C>G (p.Gly76=)
c.69C>G (p.Gly23=)
c.153C>G (p.Gly51=)
c.72C>G (p.Gly24=)
 gnomAD v4
12g.66541937G=CA2043081339GRIP1c.375C= (p.Gly125=)
c.150C= (p.Gly50=)
c.-19C= (n.-19C=)
c.228C= (p.Gly76=)
c.69C= (p.Gly23=)
c.153C= (p.Gly51=)
c.72C= (p.Gly24=)
12g.66541937G>TCA480703376GRIP1c.375C>A (p.Gly125=)
c.150C>A (p.Gly50=)
c.-19C>A (n.-19C>A)
c.228C>A (p.Gly76=)
c.69C>A (p.Gly23=)
c.153C>A (p.Gly51=)
c.72C>A (p.Gly24=)
 dbSNP gnomAD v2 gnomAD v4
12g.66541938C>ACA385680385GRIP1c.374G>T (p.Gly125Val)
c.149G>T (p.Gly50Val)
c.-20G>T (n.-20G>T)
c.227G>T (p.Gly76Val)
c.68G>T (p.Gly23Val)
c.152G>T (p.Gly51Val)
c.71G>T (p.Gly24Val)
 gnomAD v4
12g.66541938C>GCA385680386GRIP1c.374G>C (p.Gly125Ala)
c.149G>C (p.Gly50Ala)
c.-20G>C (n.-20G>C)
c.227G>C (p.Gly76Ala)
c.68G>C (p.Gly23Ala)
c.152G>C (p.Gly51Ala)
c.71G>C (p.Gly24Ala)
12g.66541938C>TCA385680387GRIP1c.374G>A (p.Gly125Asp)
c.149G>A (p.Gly50Asp)
c.-20G>A (n.-20G>A)
c.227G>A (p.Gly76Asp)
c.68G>A (p.Gly23Asp)
c.152G>A (p.Gly51Asp)
c.71G>A (p.Gly24Asp)

Number of alleles fetched