| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120442553T>A | CA2694597876 | LAMP2 | c.928+46A>T (n.928+46A>T) c.471+46A>T | gnomAD v4 |
| X | g.120442556G>A | CA2579692118 | LAMP2 | c.928+43C>T (n.928+43C>T) c.471+43C>T | |
| X | g.120442556G>T | CA2694597877 | LAMP2 | c.928+43C>A (n.928+43C>A) c.471+43C>A | gnomAD v4 |
| X | g.120442557G>A | CA2454871180 | LAMP2 | c.928+42C>T (n.928+42C>T) c.471+42C>T | dbSNP gnomAD v4 |
| X | g.120442557G= | CA2454871179 | LAMP2 | c.928+42C= (n.928+42C=) c.471+42C= | |
| X | g.120442557G>T | CA2694597878 | LAMP2 | c.928+42C>A (n.928+42C>A) c.471+42C>A | gnomAD v4 |
| X | g.120442558G>A | CA2694597879 | LAMP2 | c.928+41C>T (n.928+41C>T) c.471+41C>T | gnomAD v4 |
| X | g.120442558G>C | CA2694597880 | LAMP2 | c.928+41C>G (n.928+41C>G) c.471+41C>G | gnomAD v4 |
| X | g.120442558G>T | CA2694597881 | LAMP2 | c.928+41C>A (n.928+41C>A) c.471+41C>A | gnomAD v4 |
| X | g.120442559T>C | CA2694597882 | LAMP2 | c.928+40A>G (n.928+40A>G) c.471+40A>G | gnomAD v4 |
| X | g.120442561dup | CA2579692119 | LAMP2 | c.928+39dup (n.928+39dup) c.471+39dup | |
| X | g.120442561A>G | CA2694597883 | LAMP2 | c.928+38T>C (n.928+38T>C) c.471+38T>C | gnomAD v4 |
| X | g.120442561A>T | CA2579692120 | LAMP2 | c.928+38T>A (n.928+38T>A) c.471+38T>A | gnomAD v4 |
| X | g.120442564del | CA2694597884 | LAMP2 | c.928+36del (n.928+36del) c.471+36del | gnomAD v4 |
| X | g.120442566_120442567del | CA2694597885 | LAMP2 | c.928+34_928+35del (n.928+34_928+35del) c.471+34_471+35del | gnomAD v4 |
| X | g.120442565A>T | CA2579692121 | LAMP2 | c.928+34T>A (n.928+34T>A) c.471+34T>A | |
| X | g.120442566C>G | CA2694597886 | LAMP2 | c.928+33G>C (n.928+33G>C) c.471+33G>C | gnomAD v4 |
| X | g.120442566C>T | CA2579692122 | LAMP2 | c.928+33G>A (n.928+33G>A) c.471+33G>A | gnomAD v4 |
| X | g.120442567A>G | CA2694597887 | LAMP2 | c.928+32T>C (n.928+32T>C) c.471+32T>C | gnomAD v4 |
| X | g.120442568G>C | CA10505226 | LAMP2 | c.928+31C>G (n.928+31C>G) c.471+31C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442568G= | CA2454871181 | LAMP2 | c.928+31C= (n.928+31C=) c.471+31C= | |
| X | g.120442568G>T | CA2694597888 | LAMP2 | c.928+31C>A (n.928+31C>A) c.471+31C>A | gnomAD v4 |
| X | g.120442569T>C | CA2694597889 | LAMP2 | c.928+30A>G (n.928+30A>G) c.471+30A>G | gnomAD v4 |
| X | g.120442570C>A | CA10505227 | LAMP2 | c.928+29G>T (n.928+29G>T) c.471+29G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442570C= | CA2454871182 | LAMP2 | c.928+29G= (n.928+29G=) c.471+29G= | |
| X | g.120442570C>T | CA2694597890 | LAMP2 | c.928+29G>A (n.928+29G>A) c.471+29G>A | gnomAD v4 |
| X | g.120442570_120442572delinsCTT | CA2454871183 | LAMP2 | c.928+27_928+29delinsAAG (n.928+27_928+29delinsAAG) c.471+27_471+29delinsAAG | |
| X | g.120442571T>C | CA2694597891 | LAMP2 | c.928+28A>G (n.928+28A>G) c.471+28A>G | gnomAD v4 |
| X | g.120442575del | CA2579692123 | LAMP2 | c.928+28del (n.928+28del) c.471+28del | gnomAD v4 |
| X | g.120442574_120442575del | CA10505228 | LAMP2 | c.928+27_928+28del (n.928+27_928+28del) c.471+27_471+28del | dbSNP ExAC |
| X | g.120442573T>C | CA10505229 | LAMP2 | c.928+26A>G (n.928+26A>G) c.471+26A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442573T= | CA2454871184 | LAMP2 | c.928+26A= (n.928+26A=) c.471+26A= | |
| X | g.120442574T>C | CA2694597892 | LAMP2 | c.928+25A>G (n.928+25A>G) c.471+25A>G | gnomAD v4 |
| X | g.120442575T>A | CA2694597893 | LAMP2 | c.928+24A>T (n.928+24A>T) c.471+24A>T | gnomAD v4 |
| X | g.120442575T>C | CA2694597894 | LAMP2 | c.928+24A>G (n.928+24A>G) c.471+24A>G | gnomAD v4 |
| X | g.120442576C>T | CA2694597895 | LAMP2 | c.928+23G>A (n.928+23G>A) c.471+23G>A | gnomAD v4 |
| X | g.120442579del | CA2579692125 | LAMP2 | c.928+23del (n.928+23del) c.471+23del | gnomAD v4 |
| X | g.120442578_120442579del | CA2579692124 | LAMP2 | c.928+22_928+23del (n.928+22_928+23del) c.471+22_471+23del | |
| X | g.120442577C>A | CA1136814554 | LAMP2 | c.928+22G>T (n.928+22G>T) c.471+22G>T | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442577C= | CA2454871185 | LAMP2 | c.928+22G= (n.928+22G=) c.471+22G= | |
| X | g.120442577C>T | CA2694597896 | LAMP2 | c.928+22G>A (n.928+22G>A) c.471+22G>A | gnomAD v4 |
| X | g.120442578C>G | CA2694597897 | LAMP2 | c.928+21G>C (n.928+21G>C) c.471+21G>C | gnomAD v4 |
| X | g.120442578C>T | CA2694597898 | LAMP2 | c.928+21G>A (n.928+21G>A) c.471+21G>A | gnomAD v4 |
| X | g.120442579C>A | CA2579692126 | LAMP2 | c.928+20G>T (n.928+20G>T) c.471+20G>T | |
| X | g.120442579C>T | CA2694597899 | LAMP2 | c.928+20G>A (n.928+20G>A) c.471+20G>A | gnomAD v4 |
| X | g.120442580A>G | CA2694597900 | LAMP2 | c.928+19T>C (n.928+19T>C) c.471+19T>C | gnomAD v4 |
| X | g.120442581G>A | CA2739273744 | LAMP2 | c.928+18C>T (n.928+18C>T) c.471+18C>T | ClinVar |
| X | g.120442581G>T | CA2579692127 | LAMP2 | c.928+18C>A (n.928+18C>A) c.471+18C>A | gnomAD v4 |
| X | g.120442582G>A | CA2694597901 | LAMP2 | c.928+17C>T (n.928+17C>T) c.471+17C>T | gnomAD v4 |
| X | g.120442582G>T | CA2694597902 | LAMP2 | c.928+17C>A (n.928+17C>A) c.471+17C>A | gnomAD v4 |
| X | g.120442583C>T | CA2694597903 | LAMP2 | c.928+16G>A (n.928+16G>A) c.471+16G>A | gnomAD v4 |
| X | g.120442583_120442584del | CA2823249070 | LAMP2 | c.928+15_928+16del (n.928+15_928+16del) c.471+15_471+16del | |
| X | g.120442584C>T | CA2694597904 | LAMP2 | c.928+15G>A (n.928+15G>A) c.471+15G>A | gnomAD v4 |
| X | g.120442585A>G | CA2554005660 | LAMP2 | c.928+14T>C (n.928+14T>C) c.471+14T>C | gnomAD v4 |
| X | g.120442585A>T | CA2694597905 | LAMP2 | c.928+14T>A (n.928+14T>A) c.471+14T>A | gnomAD v4 |
| X | g.120442586G>T | CA2694597906 | LAMP2 | c.928+13C>A (n.928+13C>A) c.471+13C>A | gnomAD v4 |
| X | g.120442587T>C | CA2694597907 | LAMP2 | c.928+12A>G (n.928+12A>G) c.471+12A>G | gnomAD v4 |
| X | g.120442588G>A | CA1136814557 | LAMP2 | c.928+11C>T (n.928+11C>T) c.471+11C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442588G= | CA2454871186 | LAMP2 | c.928+11C= (n.928+11C=) c.471+11C= | |
| X | g.120442588G>T | CA2694597908 | LAMP2 | c.928+11C>A (n.928+11C>A) c.471+11C>A | gnomAD v4 |
| X | g.120442589C>T | CA2694597909 | LAMP2 | c.928+10G>A (n.928+10G>A) c.471+10G>A | gnomAD v4 |
| X | g.120442590T>C | CA2694597910 | LAMP2 | c.928+9A>G (n.928+9A>G) c.471+9A>G | gnomAD v4 |
| X | g.120442591T>A | CA2522877580 | LAMP2 | c.928+8A>T (n.928+8A>T) c.471+8A>T | ClinVar gnomAD v4 |
| X | g.120442592T>C | CA2694597911 | LAMP2 | c.928+7A>G (n.928+7A>G) c.471+7A>G | gnomAD v4 |
| X | g.120442593G>A | CA10505230 | LAMP2 | c.928+6C>T (n.928+6C>T) c.471+6C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442593G= | CA2454871187 | LAMP2 | c.928+6C= (n.928+6C=) c.471+6C= | |
| X | g.120442593G>T | CA2579692128 | LAMP2 | c.928+6C>A (n.928+6C>A) c.471+6C>A | |
| X | g.120442594C>T | CA2739273745 | LAMP2 | c.928+5G>A (n.928+5G>A) c.471+5G>A | ClinVar |
| X | g.120442595T>C | CA915952473 | LAMP2 | c.928+4A>G (n.928+4A>G) c.471+4A>G | ClinVar dbSNP |
| X | g.120442595T= | CA2454871188 | LAMP2 | c.928+4A= (n.928+4A=) c.471+4A= | |
| X | g.120442596del | CA2694597912 | LAMP2 | c.928+4del (n.928+4del) c.471+4del | gnomAD v4 |
| X | g.120442596T>A | CA2499226350 | LAMP2 | c.928+3A>T (n.928+3A>T) c.471+3A>T | ClinVar dbSNP |
| X | g.120442596T>C | CA2573159176 | LAMP2 | c.928+3A>G (n.928+3A>G) c.471+3A>G | ClinVar dbSNP gnomAD v4 |
| X | g.120442597A>C | CA414400256 | LAMP2 | c.928+2T>G (n.928+2T>G) c.471+2T>G | |
| X | g.120442597A>G | CA414400257 | LAMP2 | c.928+2T>C (n.928+2T>C) c.471+2T>C | |
| X | g.120442597A>T | CA414400258 | LAMP2 | c.928+2T>A (n.928+2T>A) c.471+2T>A | |
| X | g.120442598C>A | CA414400260 | LAMP2 | c.928+1G>T (n.928+1G>T) c.471+1G>T | |
| X | g.120442598C>G | CA414400261 | LAMP2 | c.928+1G>C (n.928+1G>C) c.471+1G>C | |
| X | g.120442598C>T | CA414400259 | LAMP2 | c.928+1G>A (n.928+1G>A) c.471+1G>A | gnomAD v4 |
| 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 | ClinVar |
| 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 |
| 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 | |
| X | g.120442626T>C | CA414400324 | LAMP2 | c.901A>G (p.Ile301Val) c.444A>G | |
| X | g.120442626T>G | CA414400325 | LAMP2 | c.901A>C (p.Ile301Leu) c.444A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120442626T= | CA2454871195 | LAMP2 | c.901A= (p.Ile301=) c.444A= | |
| X | g.120442627G>A | CA518400545 | LAMP2 | c.900C>T (p.Asn300=) c.443C>T | |
| X | g.120442627G>C | CA414400326 | LAMP2 | c.900C>G (p.Asn300Lys) c.443C>G | |
| X | g.120442627G>T | CA414400327 | LAMP2 | c.900C>A (p.Asn300Lys) c.443C>A | |
| X | g.120442630_120442653del | CA2695236102 | LAMP2 | c.877_900del (p.Arg293_Asn300del) c.420_443del | |
| X | g.120442628T>A | CA414400328 | LAMP2 | c.899A>T (p.Asn300Ile) c.442A>T | |
| X | g.120442628T>C | CA414400329 | LAMP2 | c.899A>G (p.Asn300Ser) c.442A>G | |
| X | g.120442628T>G | CA414400330 | LAMP2 | c.899A>C (p.Asn300Thr) c.442A>C | |
| X | g.120442629T>A | CA414400333 | LAMP2 | c.898A>T (p.Asn300Tyr) c.441A>T | |
| X | g.120442629T>C | CA414400332 | LAMP2 | c.898A>G (p.Asn300Asp) c.441A>G | |
| X | g.120442629T>G | CA414400331 | LAMP2 | c.898A>C (p.Asn300His) c.441A>C | |
| X | g.120442630C>A | CA518400548 | LAMP2 | c.897G>T (p.Val299=) c.440G>T | |
| X | g.120442630C= | CA2454871196 | LAMP2 | c.897G= (p.Val299=) c.440G= | |
| X | g.120442630C>G | CA518400549 | LAMP2 | c.897G>C (p.Val299=) c.440G>C | |
| X | g.120442630C>T | CA10505233 | LAMP2 | c.897G>A (p.Val299=) c.440G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442631A= | CA2454871197 | LAMP2 | c.896T= (p.Val299=) c.439T= | |
| X | g.120442631A>C | CA414400334 | LAMP2 | c.896T>G (p.Val299Gly) c.439T>G | |
| X | g.120442631A>G | CA10505234 | LAMP2 | c.896T>C (p.Val299Ala) c.439T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442631A>T | CA414400335 | LAMP2 | c.896T>A (p.Val299Glu) c.439T>A | |
| X | g.120442632C>A | CA414400336 | LAMP2 | c.895G>T (p.Val299Leu) c.438G>T | |
| X | g.120442632C>G | CA414400337 | LAMP2 | c.895G>C (p.Val299Leu) c.438G>C | |
| X | g.120442632C>T | CA414400338 | LAMP2 | c.895G>A (p.Val299Met) c.438G>A | |
| X | g.120442633T>A | CA414400339 | LAMP2 | c.894A>T (p.Glu298Asp) c.437A>T | |
| X | g.120442633T>C | CA518400553 | LAMP2 | c.894A>G (p.Glu298=) c.437A>G | gnomAD v4 |
| X | g.120442633T>G | CA414400340 | LAMP2 | c.894A>C (p.Glu298Asp) c.437A>C | |
| X | g.120442634T>A | CA414400341 | LAMP2 | c.893A>T (p.Glu298Val) c.436A>T | |
| X | g.120442634T>C | CA414400342 | LAMP2 | c.893A>G (p.Glu298Gly) c.436A>G | |
| X | g.120442634T>G | CA414400343 | LAMP2 | c.893A>C (p.Glu298Ala) c.436A>C | |
| X | g.120442635C>A | CA414400344 | LAMP2 | c.892G>T (p.Glu298Ter) c.435G>T | |
| X | g.120442635C>G | CA414400345 | LAMP2 | c.892G>C (p.Glu298Gln) c.435G>C | |
| X | g.120442635C>T | CA414400346 | LAMP2 | c.892G>A (p.Glu298Lys) c.435G>A | gnomAD v4 |
| X | g.120442636C>A | CA414400347 | LAMP2 | c.891G>T (p.Lys297Asn) c.434G>T | |
| X | g.120442636C>G | CA414400348 | LAMP2 | c.891G>C (p.Lys297Asn) c.434G>C | |
| X | g.120442636C>T | CA518400556 | LAMP2 | c.891G>A (p.Lys297=) c.434G>A | |
| X | g.120442637T>A | CA414400349 | LAMP2 | c.890A>T (p.Lys297Met) c.433A>T | |
| X | g.120442637T>C | CA414400351 | LAMP2 | c.890A>G (p.Lys297Arg) c.433A>G | |
| X | g.120442637T>G | CA414400350 | LAMP2 | c.890A>C (p.Lys297Thr) c.433A>C | |
| X | g.120442638T>A | CA414400352 | LAMP2 | c.889A>T (p.Lys297Ter) c.432A>T | |
| X | g.120442638T>C | CA414400353 | LAMP2 | c.889A>G (p.Lys297Glu) c.432A>G | |
| X | g.120442638T>G | CA414400354 | LAMP2 | c.889A>C (p.Lys297Gln) c.432A>C | |
| X | g.120442639C>A | CA518400558 | LAMP2 | c.888G>T (p.Leu296=) c.431G>T | |
| X | g.120442639C>G | CA518400560 | LAMP2 | c.888G>C (p.Leu296=) c.431G>C | |
| X | g.120442639C>T | CA518400559 | LAMP2 | c.888G>A (p.Leu296=) c.431G>A | |
| X | g.120442640A= | CA2454871198 | LAMP2 | c.887T= (p.Leu296=) c.430T= | |
| X | g.120442640A>C | CA10587960 | LAMP2 | c.887T>G (p.Leu296Arg) c.430T>G | ClinVar dbSNP |
| X | g.120442640A>G | CA333677 | LAMP2 | c.887T>C (p.Leu296Pro) c.430T>C | ClinVar dbSNP |
| X | g.120442640A>T | CA414400355 | LAMP2 | c.887T>A (p.Leu296Gln) c.430T>A | |
| X | g.120442641G>A | CA518400564 | LAMP2 | c.886C>T (p.Leu296=) c.429C>T | |
| X | g.120442641G>C | CA414400356 | LAMP2 | c.886C>G (p.Leu296Val) c.429C>G | |
| X | g.120442641G>T | CA414400357 | LAMP2 | c.886C>A (p.Leu296Met) c.429C>A | gnomAD v4 |
| X | g.120442642A= | CA2454871199 | LAMP2 | c.885T= (p.Tyr295=) c.428T= | |
| X | g.120442642A>C | CA414400358 | LAMP2 | c.885T>G (p.Tyr295Ter) c.428T>G | |
| X | g.120442642A>G | CA10505235 | LAMP2 | c.885T>C (p.Tyr295=) c.428T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120442642A>T | CA414400359 | LAMP2 | c.885T>A (p.Tyr295Ter) c.428T>A | |
| X | g.120442643T>A | CA414400362 | LAMP2 | c.884A>T (p.Tyr295Phe) c.427A>T | |
| X | g.120442643T>C | CA414400361 | LAMP2 | c.884A>G (p.Tyr295Cys) c.427A>G | |
| X | g.120442643T>G | CA414400360 | LAMP2 | c.884A>C (p.Tyr295Ser) c.427A>C | |
| X | g.120442643T= | CA2454871200 | LAMP2 | c.884A= (p.Tyr295=) c.427A= | |
| X | g.120442644A>C | CA414400365 | LAMP2 | c.883T>G (p.Tyr295Asp) c.426T>G | |
| X | g.120442644A>G | CA414400363 | LAMP2 | c.883T>C (p.Tyr295His) c.426T>C | |
| X | g.120442644A>T | CA414400364 | LAMP2 | c.883T>A (p.Tyr295Asn) c.426T>A | |
| X | g.120442647dup | CA870729291 | LAMP2 | c.883dup (p.Tyr295LeufsTer13) c.426dup | ClinVar dbSNP |
| X | g.120442647del | CA2579692129 | LAMP2 | c.883del (p.Tyr295IlefsTer2) c.426del | |
| X | g.120442645A>C | CA414400366 | LAMP2 | c.882T>G (p.Phe294Leu) c.425T>G | |
| X | g.120442645A>G | CA518400567 | LAMP2 | c.882T>C (p.Phe294=) c.425T>C | |
| X | g.120442645A>T | CA414400367 | LAMP2 | c.882T>A (p.Phe294Leu) c.425T>A | |
| X | g.120442646A>C | CA414400368 | LAMP2 | c.881T>G (p.Phe294Cys) c.424T>G | |
| X | g.120442646A>G | CA414400369 | LAMP2 | c.881T>C (p.Phe294Ser) c.424T>C | |
| X | g.120442646A>T | CA414400370 | LAMP2 | c.881T>A (p.Phe294Tyr) c.424T>A | |
| X | g.120442647A>C | CA414400371 | LAMP2 | c.880T>G (p.Phe294Val) c.423T>G | |
| X | g.120442647A>G | CA414400372 | LAMP2 | c.880T>C (p.Phe294Leu) c.423T>C | |
| X | g.120442647A>T | CA414400373 | LAMP2 | c.880T>A (p.Phe294Ile) c.423T>A | |
| X | g.120442648T>A | CA518400569 | LAMP2 | c.879A>T (p.Arg293=) c.422A>T | gnomAD v4 |
| X | g.120442648T>C | CA518400570 | LAMP2 | c.879A>G (p.Arg293=) c.422A>G | dbSNP gnomAD v4 |
| X | g.120442648T>G | CA518400571 | LAMP2 | c.879A>C (p.Arg293=) c.422A>C | |
| X | g.120442648T= | CA2454871201 | LAMP2 | c.879A= (p.Arg293=) c.422A= | |
| X | g.120442649C>A | CA414400374 | LAMP2 | c.878G>T (p.Arg293Leu) c.421G>T | gnomAD v4 |
| X | g.120442649C= | CA2454871202 | LAMP2 | c.878G= (p.Arg293=) c.421G= | |
| X | g.120442649C>G | CA414400375 | LAMP2 | c.878G>C (p.Arg293Pro) c.421G>C | |
| X | g.120442649C>T | CA414400376 | LAMP2 | c.878G>A (p.Arg293Gln) c.421G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120442650G>A | CA176513 | LAMP2 | c.877C>T (p.Arg293Ter) c.420C>T | ClinVar dbSNP |
| X | g.120442650G>C | CA414400377 | LAMP2 | c.877C>G (p.Arg293Gly) c.420C>G | |
| X | g.120442650G= | CA2454871203 | LAMP2 | c.877C= (p.Arg293=) c.420C= | |
| X | g.120442650G>T | CA10505236 | LAMP2 | c.877C>A (p.Arg293=) c.420C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120442651G>A | CA518400575 | LAMP2 | c.876C>T (p.Asn292=) c.419C>T | ClinVar gnomAD v4 |
| X | g.120442651G>C | CA414400378 | LAMP2 | c.876C>G (p.Asn292Lys) c.419C>G | |
| X | g.120442651G>T | CA414400379 | LAMP2 | c.876C>A (p.Asn292Lys) c.419C>A | gnomAD v4 |
| X | g.120442652T>A | CA414400380 | LAMP2 | c.875A>T (p.Asn292Ile) c.418A>T | |
| X | g.120442652T>C | CA414400381 | LAMP2 | c.875A>G (p.Asn292Ser) c.418A>G | |
| X | g.120442652T>G | CA414400382 | LAMP2 | c.875A>C (p.Asn292Thr) c.418A>C | |
| X | g.120442653T>A | CA414400383 | LAMP2 | c.874A>T (p.Asn292Tyr) c.417A>T | |
| X | g.120442653T>C | CA414400384 | LAMP2 | c.874A>G (p.Asn292Asp) c.417A>G | |
| X | g.120442653T>G | CA414400385 | LAMP2 | c.874A>C (p.Asn292His) c.417A>C |