Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
X | g.120442614A>G | CA518400539 | LAMP2 | c.913T>C (p.Leu305=) c.456T>C | |
X | g.120442614A>T | CA414400295 | LAMP2 | c.913T>A (p.Leu305Met) c.456T>A | |
X | g.120442615A= | CA2454871192 | LAMP2 | c.912T= (p.Tyr304=) c.455T= | |
X | g.120442615A>C | CA10577158 | LAMP2 | c.912T>G (p.Tyr304Ter) c.455T>G | ClinVar dbSNP |
X | g.120442615A>G | CA518400540 | LAMP2 | c.912T>C (p.Tyr304=) c.455T>C | |
X | g.120442615A>T | CA414400296 | LAMP2 | c.912T>A (p.Tyr304Ter) c.455T>A | |
X | g.120442616T>A | CA414400297 | LAMP2 | c.911A>T (p.Tyr304Phe) c.454A>T | |
X | g.120442616T>C | CA414400298 | LAMP2 | c.911A>G (p.Tyr304Cys) c.454A>G | gnomAD v4 |
X | g.120442616T>G | CA414400299 | LAMP2 | c.911A>C (p.Tyr304Ser) c.454A>C | |
X | g.120442617A>C | CA414400300 | LAMP2 | c.910T>G (p.Tyr304Asp) c.453T>G | |
X | g.120442617A>G | CA414400301 | LAMP2 | c.910T>C (p.Tyr304His) c.453T>C | ClinVar dbSNP |
X | g.120442617A>T | CA414400302 | LAMP2 | c.910T>A (p.Tyr304Asn) c.453T>A | |
X | g.120442618C>A | CA414400303 | LAMP2 | c.909G>T (p.Met303Ile) c.452G>T | |
X | g.120442618C>G | CA414400305 | LAMP2 | c.909G>C (p.Met303Ile) c.452G>C | |
X | g.120442618C>T | CA414400304 | LAMP2 | c.909G>A (p.Met303Ile) c.452G>A | |
X | g.120442619A= | CA2454871193 | LAMP2 | c.908T= (p.Met303=) c.451T= | |
X | g.120442619A>C | CA414400306 | LAMP2 | c.908T>G (p.Met303Arg) c.451T>G | |
X | g.120442619A>G | CA414400307 | LAMP2 | c.908T>C (p.Met303Thr) c.451T>C | |
X | g.120442619A>T | CA414400308 | LAMP2 | c.908T>A (p.Met303Lys) c.451T>A | dbSNP gnomAD v4 |
X | g.120442620T>A | CA414400309 | LAMP2 | c.907A>T (p.Met303Leu) c.450A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.120442620T>C | CA10505232 | LAMP2 | c.907A>G (p.Met303Val) c.450A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.120442620T>G | CA414400310 | LAMP2 | c.907A>C (p.Met303Leu) c.450A>C | |
X | g.120442620T= | CA2454871194 | LAMP2 | c.907A= (p.Met303=) c.450A= | |
X | g.120442621G>A | CA518400541 | LAMP2 | c.906C>T (p.Ser302=) c.449C>T | ClinVar gnomAD v4 |
X | g.120442621G>C | CA414400311 | LAMP2 | c.906C>G (p.Ser302Arg) c.449C>G | |
X | g.120442621G>T | CA414400312 | LAMP2 | c.906C>A (p.Ser302Arg) c.449C>A | |
X | g.120442622C>A | CA414400313 | LAMP2 | c.905G>T (p.Ser302Ile) c.448G>T | gnomAD v4 |
X | g.120442622C>G | CA414400314 | LAMP2 | c.905G>C (p.Ser302Thr) c.448G>C | |
X | g.120442622C>T | CA414400315 | LAMP2 | c.905G>A (p.Ser302Asn) c.448G>A | |
X | g.120442623T>A | CA414400318 | LAMP2 | c.904A>T (p.Ser302Cys) c.447A>T | |
X | g.120442623T>C | CA414400317 | LAMP2 | c.904A>G (p.Ser302Gly) c.447A>G | |
X | g.120442623T>G | CA414400316 | LAMP2 | c.904A>C (p.Ser302Arg) c.447A>C | |
X | g.120442624G>A | CA518400542 | LAMP2 | c.903C>T (p.Ile301=) c.446C>T | |
X | g.120442624G>C | CA414400319 | LAMP2 | c.903C>G (p.Ile301Met) c.446C>G | |
X | g.120442624G>T | CA518400543 | LAMP2 | c.903C>A (p.Ile301=) c.446C>A | |
X | g.120442625A>C | CA414400320 | LAMP2 | c.902T>G (p.Ile301Ser) c.445T>G | |
X | g.120442625A>G | CA414400321 | LAMP2 | c.902T>C (p.Ile301Thr) c.445T>C | |
X | g.120442625A>T | CA414400322 | LAMP2 | c.902T>A (p.Ile301Asn) c.445T>A | |
X | g.120442626T>A | CA414400323 | LAMP2 | c.901A>T (p.Ile301Phe) c.444A>T |