Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.120442599C>A | CA414400262 | LAMP2 | c.928G>T (p.Val310Phe) c.471G>T | ClinVar dbSNP |
X | g.120442599C= | CA2454871189 | LAMP2 | c.928G= (p.Val310=) c.471G= | |
X | g.120442599C>G | CA414400263 | LAMP2 | c.928G>C (p.Val310Leu) c.471G>C | ClinVar dbSNP |
X | g.120442599C>T | CA120868 | LAMP2 | c.928G>A (p.Val310Ile) c.471G>A | ClinVar dbSNP |
X | g.120442600G>A | CA134214 | LAMP2 | c.927C>T (p.Ser309=) c.470C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442600G>C | CA518400529 | LAMP2 | c.927C>G (p.Ser309=) c.470C>G | |
X | g.120442600G= | CA2454871190 | LAMP2 | c.927C= (p.Ser309=) c.470C= | |
X | g.120442600G>T | CA518400530 | LAMP2 | c.927C>A (p.Ser309=) c.470C>A | |
X | g.120442601G>A | CA414400266 | LAMP2 | c.926C>T (p.Ser309Phe) c.469C>T | |
X | g.120442601G>C | CA414400265 | LAMP2 | c.926C>G (p.Ser309Cys) c.469C>G | gnomAD v4 |
X | g.120442601G>T | CA414400264 | LAMP2 | c.926C>A (p.Ser309Tyr) c.469C>A | |
X | g.120442602A>C | CA414400267 | LAMP2 | c.925T>G (p.Ser309Ala) c.468T>G | |
X | g.120442602A>G | CA414400268 | LAMP2 | c.925T>C (p.Ser309Pro) c.468T>C | |
X | g.120442602A>T | CA414400269 | LAMP2 | c.925T>A (p.Ser309Thr) c.468T>A | |
X | g.120442603G>A | CA518400531 | LAMP2 | c.924C>T (p.Gly308=) c.467C>T | |
X | g.120442603G>C | CA518400533 | LAMP2 | c.924C>G (p.Gly308=) c.467C>G | gnomAD v4 |
X | g.120442603G>T | CA518400532 | LAMP2 | c.924C>A (p.Gly308=) c.467C>A | gnomAD v4 |
X | g.120442604C>A | CA414400270 | LAMP2 | c.923G>T (p.Gly308Val) c.466G>T | |
X | g.120442604C>G | CA414400271 | LAMP2 | c.923G>C (p.Gly308Ala) c.466G>C | |
X | g.120442604C>T | CA414400272 | LAMP2 | c.923G>A (p.Gly308Asp) c.466G>A | |
X | g.120442605C>A | CA414400273 | LAMP2 | c.922G>T (p.Gly308Cys) c.465G>T | |
X | g.120442605C>G | CA414400275 | LAMP2 | c.922G>C (p.Gly308Arg) c.465G>C | |
X | g.120442605C>T | CA414400274 | LAMP2 | c.922G>A (p.Gly308Ser) c.465G>A | |
X | g.120442606A>C | CA414400276 | LAMP2 | c.921T>G (p.Asn307Lys) c.464T>G | |
X | g.120442606A>G | CA518400534 | LAMP2 | c.921T>C (p.Asn307=) c.464T>C | |
X | g.120442606A>T | CA414400277 | LAMP2 | c.921T>A (p.Asn307Lys) c.464T>A | |
X | g.120442607T>A | CA414400278 | LAMP2 | c.920A>T (p.Asn307Ile) c.463A>T | |
X | g.120442607T>C | CA10505231 | LAMP2 | c.920A>G (p.Asn307Ser) c.463A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442607T>G | CA414400279 | LAMP2 | c.920A>C (p.Asn307Thr) c.463A>C | |
X | g.120442607T= | CA2454871191 | LAMP2 | c.920A= (p.Asn307=) c.463A= | |
X | g.120442608T>A | CA414400280 | LAMP2 | c.919A>T (p.Asn307Tyr) c.462A>T | |
X | g.120442608T>C | CA414400281 | LAMP2 | c.919A>G (p.Asn307Asp) c.462A>G | ClinVar dbSNP |
X | g.120442608T>G | CA414400282 | LAMP2 | c.919A>C (p.Asn307His) c.462A>C | |
X | g.120442609A>C | CA518400535 | LAMP2 | c.918T>G (p.Val306=) c.461T>G | |
X | g.120442609A>G | CA518400536 | LAMP2 | c.918T>C (p.Val306=) c.461T>C | |
X | g.120442609A>T | CA518400537 | LAMP2 | c.918T>A (p.Val306=) c.461T>A | |
X | g.120442610A>C | CA414400283 | LAMP2 | c.917T>G (p.Val306Gly) c.460T>G | |
X | g.120442610A>G | CA414400284 | LAMP2 | c.917T>C (p.Val306Ala) c.460T>C | |
X | g.120442610A>T | CA414400285 | LAMP2 | c.917T>A (p.Val306Asp) c.460T>A | |
X | g.120442611C>A | CA414400286 | LAMP2 | c.916G>T (p.Val306Phe) c.459G>T | |
X | g.120442611C>G | CA414400287 | LAMP2 | c.916G>C (p.Val306Leu) c.459G>C | |
X | g.120442611C>T | CA414400288 | LAMP2 | c.916G>A (p.Val306Ile) c.459G>A | |
X | g.120442612C>A | CA414400290 | LAMP2 | c.915G>T (p.Leu305Phe) c.458G>T | |
X | g.120442612C>G | CA414400289 | LAMP2 | c.915G>C (p.Leu305Phe) c.458G>C | |
X | g.120442612C>T | CA518400538 | LAMP2 | c.915G>A (p.Leu305=) c.458G>A | |
X | g.120442613A>C | CA414400291 | LAMP2 | c.914T>G (p.Leu305Trp) c.457T>G | |
X | g.120442613A>G | CA414400292 | LAMP2 | c.914T>C (p.Leu305Ser) c.457T>C | |
X | g.120442613A>T | CA414400293 | LAMP2 | c.914T>A (p.Leu305Ter) c.457T>A | |
X | g.120442614_120442617del | CA2580100275 | LAMP2 | c.911_914del (p.Tyr304TrpfsTer?) c.454_457del | ClinVar |
X | g.120442614A>C | CA414400294 | LAMP2 | c.913T>G (p.Leu305Val) c.456T>G | gnomAD v4 |