Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.120442599C>ACA414400262LAMP2c.928G>T (p.Val310Phe)
c.471G>T
ClinVar dbSNP
Xg.120442599C=CA2454871189LAMP2c.928G= (p.Val310=)
c.471G=
Xg.120442599C>GCA414400263LAMP2c.928G>C (p.Val310Leu)
c.471G>C
ClinVar dbSNP
Xg.120442599C>TCA120868LAMP2c.928G>A (p.Val310Ile)
c.471G>A
ClinVar dbSNP
Xg.120442600G>ACA134214LAMP2c.927C>T (p.Ser309=)
c.470C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442600G>CCA518400529LAMP2c.927C>G (p.Ser309=)
c.470C>G
Xg.120442600G=CA2454871190LAMP2c.927C= (p.Ser309=)
c.470C=
Xg.120442600G>TCA518400530LAMP2c.927C>A (p.Ser309=)
c.470C>A
Xg.120442601G>ACA414400266LAMP2c.926C>T (p.Ser309Phe)
c.469C>T
Xg.120442601G>CCA414400265LAMP2c.926C>G (p.Ser309Cys)
c.469C>G
gnomAD v4
Xg.120442601G>TCA414400264LAMP2c.926C>A (p.Ser309Tyr)
c.469C>A
Xg.120442602A>CCA414400267LAMP2c.925T>G (p.Ser309Ala)
c.468T>G
Xg.120442602A>GCA414400268LAMP2c.925T>C (p.Ser309Pro)
c.468T>C
Xg.120442602A>TCA414400269LAMP2c.925T>A (p.Ser309Thr)
c.468T>A
Xg.120442603G>ACA518400531LAMP2c.924C>T (p.Gly308=)
c.467C>T
Xg.120442603G>CCA518400533LAMP2c.924C>G (p.Gly308=)
c.467C>G
gnomAD v4
Xg.120442603G>TCA518400532LAMP2c.924C>A (p.Gly308=)
c.467C>A
gnomAD v4
Xg.120442604C>ACA414400270LAMP2c.923G>T (p.Gly308Val)
c.466G>T
Xg.120442604C>GCA414400271LAMP2c.923G>C (p.Gly308Ala)
c.466G>C
Xg.120442604C>TCA414400272LAMP2c.923G>A (p.Gly308Asp)
c.466G>A
Xg.120442605C>ACA414400273LAMP2c.922G>T (p.Gly308Cys)
c.465G>T
Xg.120442605C>GCA414400275LAMP2c.922G>C (p.Gly308Arg)
c.465G>C
Xg.120442605C>TCA414400274LAMP2c.922G>A (p.Gly308Ser)
c.465G>A
Xg.120442606A>CCA414400276LAMP2c.921T>G (p.Asn307Lys)
c.464T>G
Xg.120442606A>GCA518400534LAMP2c.921T>C (p.Asn307=)
c.464T>C
Xg.120442606A>TCA414400277LAMP2c.921T>A (p.Asn307Lys)
c.464T>A
Xg.120442607T>ACA414400278LAMP2c.920A>T (p.Asn307Ile)
c.463A>T
Xg.120442607T>CCA10505231LAMP2c.920A>G (p.Asn307Ser)
c.463A>G
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.120442607T>GCA414400279LAMP2c.920A>C (p.Asn307Thr)
c.463A>C
Xg.120442607T=CA2454871191LAMP2c.920A= (p.Asn307=)
c.463A=
Xg.120442608T>ACA414400280LAMP2c.919A>T (p.Asn307Tyr)
c.462A>T
Xg.120442608T>CCA414400281LAMP2c.919A>G (p.Asn307Asp)
c.462A>G
ClinVar dbSNP
Xg.120442608T>GCA414400282LAMP2c.919A>C (p.Asn307His)
c.462A>C
Xg.120442609A>CCA518400535LAMP2c.918T>G (p.Val306=)
c.461T>G
Xg.120442609A>GCA518400536LAMP2c.918T>C (p.Val306=)
c.461T>C
Xg.120442609A>TCA518400537LAMP2c.918T>A (p.Val306=)
c.461T>A
Xg.120442610A>CCA414400283LAMP2c.917T>G (p.Val306Gly)
c.460T>G
Xg.120442610A>GCA414400284LAMP2c.917T>C (p.Val306Ala)
c.460T>C
Xg.120442610A>TCA414400285LAMP2c.917T>A (p.Val306Asp)
c.460T>A
Xg.120442611C>ACA414400286LAMP2c.916G>T (p.Val306Phe)
c.459G>T
Xg.120442611C>GCA414400287LAMP2c.916G>C (p.Val306Leu)
c.459G>C
Xg.120442611C>TCA414400288LAMP2c.916G>A (p.Val306Ile)
c.459G>A
Xg.120442612C>ACA414400290LAMP2c.915G>T (p.Leu305Phe)
c.458G>T
Xg.120442612C>GCA414400289LAMP2c.915G>C (p.Leu305Phe)
c.458G>C
Xg.120442612C>TCA518400538LAMP2c.915G>A (p.Leu305=)
c.458G>A
Xg.120442613A>CCA414400291LAMP2c.914T>G (p.Leu305Trp)
c.457T>G
Xg.120442613A>GCA414400292LAMP2c.914T>C (p.Leu305Ser)
c.457T>C
Xg.120442613A>TCA414400293LAMP2c.914T>A (p.Leu305Ter)
c.457T>A
Xg.120442614_120442617delCA2580100275LAMP2c.911_914del (p.Tyr304TrpfsTer?)
c.454_457del
ClinVar
Xg.120442614A>CCA414400294LAMP2c.913T>G (p.Leu305Val)
c.456T>G
gnomAD v4

Number of alleles fetched