UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.120441723T>C | CA2454870868 | LAMP2 | c.1093+7A>G (n.1093+7A>G) c.636+7A>G | ClinVar dbSNP gnomAD v4 |
| X | g.120441723T= | CA2454870867 | LAMP2 | c.1093+7A= (n.1093+7A=) c.636+7A= | |
| X | g.120441724T>C | CA2454870870 | LAMP2 | c.1093+6A>G (n.1093+6A>G) c.636+6A>G | dbSNP gnomAD v4 |
| X | g.120441724T= | CA2454870869 | LAMP2 | c.1093+6A= (n.1093+6A=) c.636+6A= | |
| X | g.120441725C= | CA2454870871 | LAMP2 | c.1093+5G= (n.1093+5G=) c.636+5G= | |
| X | g.120441725C>T | CA10505206 | LAMP2 | c.1093+5G>A (n.1093+5G>A) c.636+5G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441728A= | CA2454870872 | LAMP2 | c.1093+2T= (n.1093+2T=) c.636+2T= | |
| X | g.120441728A>C | CA414399841 | LAMP2 | c.1093+2T>G (n.1093+2T>G) c.636+2T>G | |
| X | g.120441728A>G | CA414399842 | LAMP2 | c.1093+2T>C (n.1093+2T>C) c.636+2T>C | gnomAD v4 |
| X | g.120441728A>T | CA414399844 | LAMP2 | c.1093+2T>A (n.1093+2T>A) c.636+2T>A | dbSNP |
| X | g.120441729C>A | CA414399846 | LAMP2 | c.1093+1G>T (n.1093+1G>T) c.636+1G>T | |
| X | g.120441729C= | CA2454870873 | LAMP2 | c.1093+1G= (n.1093+1G=) c.636+1G= | |
| X | g.120441729C>G | CA414399848 | LAMP2 | c.1093+1G>C (n.1093+1G>C) c.636+1G>C | dbSNP |
| X | g.120441729C>T | CA184060 | LAMP2 | c.1093+1G>A (n.1093+1G>A) c.636+1G>A | ClinVar dbSNP |
| X | g.120441730C>A | CA414399850 | LAMP2 | c.1093G>T (p.Glu365Ter) c.1093G>T (p.Ala365Ser) c.636G>T | |
| X | g.120441730C>G | CA414399852 | LAMP2 | c.1093G>C (p.Glu365Gln) c.1093G>C (p.Ala365Pro) c.636G>C | |
| X | g.120441730C>T | CA414399853 | LAMP2 | c.1093G>A (p.Glu365Lys) c.1093G>A (p.Ala365Thr) c.636G>A | |
| X | g.120441731T>A | CA518400345 | LAMP2 | c.1092A>T (p.Thr364=) c.635A>T | |
| X | g.120441731T>C | CA518400346 | LAMP2 | c.1092A>G (p.Thr364=) c.635A>G | |
| X | g.120441731T>G | CA518400347 | LAMP2 | c.1092A>C (p.Thr364=) c.635A>C | |
| X | g.120441732G>A | CA090975 | LAMP2 | c.1091C>T (p.Thr364Ile) c.634C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441732G>C | CA414399857 | LAMP2 | c.1091C>G (p.Thr364Arg) c.634C>G | |
| X | g.120441732G= | CA2454870874 | LAMP2 | c.1091C= (p.Thr364=) c.634C= | |
| X | g.120441732G>T | CA414399855 | LAMP2 | c.1091C>A (p.Thr364Lys) c.634C>A | gnomAD v4 |
| X | g.120441733T>A | CA414399861 | LAMP2 | c.1090A>T (p.Thr364Ser) c.633A>T | |
| X | g.120441733T>C | CA414399859 | LAMP2 | c.1090A>G (p.Thr364Ala) c.633A>G | gnomAD v4 |
| X | g.120441733T>G | CA414399862 | LAMP2 | c.1090A>C (p.Thr364Pro) c.633A>C | |
| X | g.120441734A= | CA2454870875 | LAMP2 | c.1089T= (p.Ser363=) c.632T= | |
| X | g.120441734A>C | CA518400348 | LAMP2 | c.1089T>G (p.Ser363=) c.632T>G | |
| X | g.120441734A>G | CA10505207 | LAMP2 | c.1089T>C (p.Ser363=) c.632T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441734A>T | CA518400350 | LAMP2 | c.1089T>A (p.Ser363=) c.632T>A | |
| X | g.120441735G>A | CA414399865 | LAMP2 | c.1088C>T (p.Ser363Phe) c.631C>T | gnomAD v4 |
| X | g.120441735G>C | CA414399867 | LAMP2 | c.1088C>G (p.Ser363Cys) c.631C>G | |
| X | g.120441735G>T | CA414399868 | LAMP2 | c.1088C>A (p.Ser363Tyr) c.631C>A | |
| X | g.120441736A>C | CA414399870 | LAMP2 | c.1087T>G (p.Ser363Ala) c.630T>G | |
| X | g.120441736A>G | CA414399872 | LAMP2 | c.1087T>C (p.Ser363Pro) c.630T>C | |
| X | g.120441736A>T | CA414399873 | LAMP2 | c.1087T>A (p.Ser363Thr) c.630T>A | |
| X | g.120441737A>C | CA414399874 | LAMP2 | c.1086T>G (p.Tyr362Ter) c.629T>G | |
| X | g.120441737A>G | CA518400351 | LAMP2 | c.1086T>C (p.Tyr362=) c.629T>C | |
| X | g.120441737A>T | CA414399876 | LAMP2 | c.1086T>A (p.Tyr362Ter) c.629T>A | |
| X | g.120441738T>A | CA414399878 | LAMP2 | c.1085A>T (p.Tyr362Phe) c.628A>T | |
| X | g.120441738T>C | CA414399879 | LAMP2 | c.1085A>G (p.Tyr362Cys) c.628A>G | |
| X | g.120441738T>G | CA414399881 | LAMP2 | c.1085A>C (p.Tyr362Ser) c.628A>C | |
| X | g.120441739A= | CA2454870876 | LAMP2 | c.1084T= (p.Tyr362=) c.627T= | |
| X | g.120441739A>C | CA414399884 | LAMP2 | c.1084T>G (p.Tyr362Asp) c.627T>G | |
| X | g.120441739A>G | CA10505208 | LAMP2 | c.1084T>C (p.Tyr362His) c.627T>C | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.120441739A>T | CA414399882 | LAMP2 | c.1084T>A (p.Tyr362Asn) c.627T>A | |
| X | g.120441740C>A | CA414399886 | LAMP2 | c.1083G>T (p.Lys361Asn) c.626G>T | |
| X | g.120441740C= | CA2454870877 | LAMP2 | c.1083G= (p.Lys361=) c.626G= | |
| X | g.120441740C>G | CA414399887 | LAMP2 | c.1083G>C (p.Lys361Asn) c.626G>C | |
| X | g.120441740C>T | CA518400353 | LAMP2 | c.1083G>A (p.Lys361=) c.626G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441740_120441741delinsCT | CA2454870878 | LAMP2 | c.1082_1083delinsAG (p.Lys361=) c.625_626delinsAG | |
| X | g.120441741T>A | CA414399889 | LAMP2 | c.1082A>T (p.Lys361Met) c.625A>T | |
| X | g.120441741T>C | CA414399891 | LAMP2 | c.1082A>G (p.Lys361Arg) c.625A>G | |
| X | g.120441741T>G | CA414399892 | LAMP2 | c.1082A>C (p.Lys361Thr) c.625A>C | |
| X | g.120441743del | CA870728511 | LAMP2 | c.1082del (p.Lys361SerfsTer?) c.1082del (p.Lys361SerfsTer19) c.1082del (p.Lys361SerfsTer16) c.1082del (p.Lys361SerfsTer30) c.625del | ClinVar dbSNP |
| X | g.120441742_120441743del | CA2579692091 | LAMP2 | c.1081_1082del (p.Lys361ValfsTer11) c.1081_1082del (p.Lys361ValfsTer5) c.624_625del | |
| X | g.120441742T>A | CA414399894 | LAMP2 | c.1081A>T (p.Lys361Ter) c.624A>T | |
| X | g.120441742T>C | CA414399896 | LAMP2 | c.1081A>G (p.Lys361Glu) c.624A>G | |
| X | g.120441742T>G | CA414399898 | LAMP2 | c.1081A>C (p.Lys361Gln) c.624A>C | COSMIC COSMIC COSMIC |
| X | g.120441743T>A | CA518400355 | LAMP2 | c.1080A>T (p.Gly360=) c.623A>T | |
| X | g.120441743T>C | CA518400357 | LAMP2 | c.1080A>G (p.Gly360=) c.623A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441743T>G | CA518400358 | LAMP2 | c.1080A>C (p.Gly360=) c.623A>C | |
| X | g.120441743T= | CA2454870879 | LAMP2 | c.1080A= (p.Gly360=) c.623A= | |
| X | g.120441744C>A | CA414399900 | LAMP2 | c.1079G>T (p.Gly360Val) c.622G>T | |
| X | g.120441744C>G | CA414399902 | LAMP2 | c.1079G>C (p.Gly360Ala) c.622G>C | |
| X | g.120441744C>T | CA414399903 | LAMP2 | c.1079G>A (p.Gly360Glu) c.622G>A | |
| X | g.120441745C>A | CA414399905 | LAMP2 | c.1078G>T (p.Gly360Ter) c.621G>T | |
| X | g.120441745C= | CA2454870880 | LAMP2 | c.1078G= (p.Gly360=) c.621G= | |
| X | g.120441745C>G | CA414399907 | LAMP2 | c.1078G>C (p.Gly360Arg) c.621G>C | |
| X | g.120441745C>T | CA10505209 | LAMP2 | c.1078G>A (p.Gly360Arg) c.621G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441746T>A | CA414399909 | LAMP2 | c.1077A>T (p.Gln359His) c.620A>T | |
| X | g.120441746T>C | CA10505210 | LAMP2 | c.1077A>G (p.Gln359=) c.620A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441746T>G | CA414399920 | LAMP2 | c.1077A>C (p.Gln359His) c.620A>C | |
| X | g.120441746T= | CA2454870881 | LAMP2 | c.1077A= (p.Gln359=) c.620A= | |
| X | g.120441747T>A | CA414399921 | LAMP2 | c.1076A>T (p.Gln359Leu) c.619A>T | |
| X | g.120441747T>C | CA414399922 | LAMP2 | c.1076A>G (p.Gln359Arg) c.619A>G | |
| X | g.120441747T>G | CA414399923 | LAMP2 | c.1076A>C (p.Gln359Pro) c.619A>C | |
| X | g.120441748G>A | CA16043204 | LAMP2 | c.1075C>T (p.Gln359Ter) c.618C>T | ClinVar dbSNP |
| X | g.120441748G>C | CA414399924 | LAMP2 | c.1075C>G (p.Gln359Glu) c.618C>G | |
| X | g.120441748G= | CA2454870882 | LAMP2 | c.1075C= (p.Gln359=) c.618C= | |
| X | g.120441748G>T | CA414399925 | LAMP2 | c.1075C>A (p.Gln359Lys) c.618C>A | gnomAD v4 |
| X | g.120441748dup | CA2695236098 | LAMP2 | c.1075dup (p.Gln359ProfsTer14) c.1075dup (p.Gln359ProfsTer8) c.618dup | |
| X | g.120441749T>A | CA518400363 | LAMP2 | c.1074A>T (p.Thr358=) c.617A>T | |
| X | g.120441749T>C | CA518400364 | LAMP2 | c.1074A>G (p.Thr358=) c.617A>G | |
| X | g.120441749T>G | CA518400365 | LAMP2 | c.1074A>C (p.Thr358=) c.617A>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441749T= | CA2454870883 | LAMP2 | c.1074A= (p.Thr358=) c.617A= | |
| X | g.120441750G>A | CA414399926 | LAMP2 | c.1073C>T (p.Thr358Ile) c.616C>T | dbSNP gnomAD v4 |
| X | g.120441750G>C | CA414399927 | LAMP2 | c.1073C>G (p.Thr358Arg) c.616C>G | |
| X | g.120441750G= | CA2454870884 | LAMP2 | c.1073C= (p.Thr358=) c.616C= | |
| X | g.120441750G>T | CA414399928 | LAMP2 | c.1073C>A (p.Thr358Lys) c.616C>A | |
| X | g.120441751T>A | CA414399930 | LAMP2 | c.1072A>T (p.Thr358Ser) c.615A>T | |
| X | g.120441751T>C | CA414399931 | LAMP2 | c.1072A>G (p.Thr358Ala) c.615A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441751T>G | CA414399929 | LAMP2 | c.1072A>C (p.Thr358Pro) c.615A>C | |
| X | g.120441751T= | CA2454870885 | LAMP2 | c.1072A= (p.Thr358=) c.615A= | |
| X | g.120441752C>A | CA518400367 | LAMP2 | c.1071G>T (p.Val357=) c.614G>T | |
| X | g.120441752C>G | CA518400368 | LAMP2 | c.1071G>C (p.Val357=) c.614G>C | |
| X | g.120441752C>T | CA518400369 | LAMP2 | c.1071G>A (p.Val357=) c.614G>A | |
| X | g.120441753A>C | CA414399932 | LAMP2 | c.1070T>G (p.Val357Gly) c.613T>G | |
| X | g.120441753A>G | CA414399933 | LAMP2 | c.1070T>C (p.Val357Ala) c.613T>C | |
| X | g.120441753A>T | CA414399934 | LAMP2 | c.1070T>A (p.Val357Glu) c.613T>A | |
| X | g.120441754_120442092del | CA2499226349 | LAMP2 | c.929-197_1070del c.472-197_613del | ClinVar dbSNP |
| X | g.120441754C>A | CA414399935 | LAMP2 | c.1069G>T (p.Val357Leu) c.612G>T | |
| X | g.120441754C= | CA2454870886 | LAMP2 | c.1069G= (p.Val357=) c.612G= | |
| X | g.120441754C>G | CA414399936 | LAMP2 | c.1069G>C (p.Val357Leu) c.612G>C | |
| X | g.120441754C>T | CA10587957 | LAMP2 | c.1069G>A (p.Val357Met) c.612G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441755A= | CA2454870887 | LAMP2 | c.1068T= (p.Asn356=) c.611T= | |
| X | g.120441755A>C | CA414399938 | LAMP2 | c.1068T>G (p.Asn356Lys) c.611T>G | |
| X | g.120441755A>G | CA10505211 | LAMP2 | c.1068T>C (p.Asn356=) c.611T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441755A>T | CA414399937 | LAMP2 | c.1068T>A (p.Asn356Lys) c.611T>A | |
| X | g.120441756T>A | CA414399939 | LAMP2 | c.1067A>T (p.Asn356Ile) c.610A>T | |
| X | g.120441756T>C | CA10505212 | LAMP2 | c.1067A>G (p.Asn356Ser) c.610A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441756T>G | CA414399940 | LAMP2 | c.1067A>C (p.Asn356Thr) c.610A>C | |
| X | g.120441756T= | CA2454870888 | LAMP2 | c.1067A= (p.Asn356=) c.610A= | |
| X | g.120441757T>A | CA414399941 | LAMP2 | c.1066A>T (p.Asn356Tyr) c.609A>T | |
| X | g.120441757T>C | CA414399942 | LAMP2 | c.1066A>G (p.Asn356Asp) c.609A>G | |
| X | g.120441757T>G | CA414399943 | LAMP2 | c.1066A>C (p.Asn356His) c.609A>C | |
| X | g.120441758G>A | CA518400371 | LAMP2 | c.1065C>T (p.Phe355=) c.608C>T | |
| X | g.120441758G>C | CA414399945 | LAMP2 | c.1065C>G (p.Phe355Leu) c.608C>G | |
| X | g.120441758G>T | CA414399944 | LAMP2 | c.1065C>A (p.Phe355Leu) c.608C>A | |
| X | g.120441759A>C | CA414399946 | LAMP2 | c.1064T>G (p.Phe355Cys) c.607T>G | |
| X | g.120441759A>G | CA414399948 | LAMP2 | c.1064T>C (p.Phe355Ser) c.607T>C | |
| X | g.120441759A>T | CA414399947 | LAMP2 | c.1064T>A (p.Phe355Tyr) c.607T>A | |
| X | g.120441760A>C | CA414399949 | LAMP2 | c.1063T>G (p.Phe355Val) c.606T>G | |
| X | g.120441760A>G | CA414399950 | LAMP2 | c.1063T>C (p.Phe355Leu) c.606T>C | |
| X | g.120441760A>T | CA414399951 | LAMP2 | c.1063T>A (p.Phe355Ile) c.606T>A | |
| X | g.120441761A>C | CA518400375 | LAMP2 | c.1062T>G (p.Pro354=) c.605T>G | |
| X | g.120441761A>G | CA518400374 | LAMP2 | c.1062T>C (p.Pro354=) c.605T>C | |
| X | g.120441761A>T | CA518400373 | LAMP2 | c.1062T>A (p.Pro354=) c.605T>A | COSMIC COSMIC COSMIC |
| X | g.120441762G>A | CA414399952 | LAMP2 | c.1061C>T (p.Pro354Leu) c.604C>T | |
| X | g.120441762G>C | CA414399953 | LAMP2 | c.1061C>G (p.Pro354Arg) c.604C>G | |
| X | g.120441762G>T | CA414399954 | LAMP2 | c.1061C>A (p.Pro354His) c.604C>A | gnomAD v4 |
| X | g.120441763G>A | CA414399957 | LAMP2 | c.1060C>T (p.Pro354Ser) c.603C>T | |
| X | g.120441763G>C | CA414399955 | LAMP2 | c.1060C>G (p.Pro354Ala) c.603C>G | |
| X | g.120441763G>T | CA414399956 | LAMP2 | c.1060C>A (p.Pro354Thr) c.603C>A | |
| X | g.120441764C>A | CA414399958 | LAMP2 | c.1059G>T (p.Gln353His) c.602G>T | dbSNP |
| X | g.120441764C>G | CA414399959 | LAMP2 | c.1059G>C (p.Gln353His) c.602G>C | |
| X | g.120441764C>T | CA518400377 | LAMP2 | c.1059G>A (p.Gln353=) c.602G>A | |
| X | g.120441765T>A | CA414399960 | LAMP2 | c.1058A>T (p.Gln353Leu) c.601A>T | |
| X | g.120441765T>C | CA414399961 | LAMP2 | c.1058A>G (p.Gln353Arg) c.601A>G | |
| X | g.120441765T>G | CA414399962 | LAMP2 | c.1058A>C (p.Gln353Pro) c.601A>C | |
| X | g.120441766G>A | CA414399963 | LAMP2 | c.1057C>T (p.Gln353Ter) c.600C>T | ClinVar dbSNP |
| X | g.120441766G>C | CA414399965 | LAMP2 | c.1057C>G (p.Gln353Glu) c.600C>G | |
| X | g.120441766G>T | CA414399964 | LAMP2 | c.1057C>A (p.Gln353Lys) c.600C>A | |
| X | g.120441767A>C | CA518400379 | LAMP2 | c.1056T>G (p.Val352=) c.599T>G | |
| X | g.120441767A>G | CA518400382 | LAMP2 | c.1056T>C (p.Val352=) c.599T>C | |
| X | g.120441767A>T | CA518400380 | LAMP2 | c.1056T>A (p.Val352=) c.599T>A | |
| X | g.120441768A>C | CA414399966 | LAMP2 | c.1055T>G (p.Val352Gly) c.598T>G | |
| X | g.120441768A>G | CA414399967 | LAMP2 | c.1055T>C (p.Val352Ala) c.598T>C | |
| X | g.120441768A>T | CA414399968 | LAMP2 | c.1055T>A (p.Val352Asp) c.598T>A | |
| X | g.120441769C>A | CA414399969 | LAMP2 | c.1054G>T (p.Val352Phe) c.597G>T | |
| X | g.120441769C= | CA2454870889 | LAMP2 | c.1054G= (p.Val352=) c.597G= | |
| X | g.120441769C>G | CA414399970 | LAMP2 | c.1054G>C (p.Val352Leu) c.597G>C | |
| X | g.120441769C>T | CA10505213 | LAMP2 | c.1054G>A (p.Val352Ile) c.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441771del | CA2695236099 | LAMP2 | c.1054del (p.Val352PhefsTer6) c.597del | |
| X | g.120441770C>A | CA414399971 | LAMP2 | c.1053G>T (p.Arg351Ser) c.596G>T | |
| X | g.120441770C>G | CA414399972 | LAMP2 | c.1053G>C (p.Arg351Ser) c.596G>C | |
| X | g.120441770C>T | CA518400384 | LAMP2 | c.1053G>A (p.Arg351=) c.596G>A | COSMIC COSMIC COSMIC |
| X | g.120441771C>A | CA414399973 | LAMP2 | c.1052G>T (p.Arg351Met) c.595G>T | |
| X | g.120441771C>G | CA414399974 | LAMP2 | c.1052G>C (p.Arg351Thr) c.595G>C | |
| X | g.120441771C>T | CA414399975 | LAMP2 | c.1052G>A (p.Arg351Lys) c.595G>A | |
| X | g.120441772T>A | CA414399976 | LAMP2 | c.1051A>T (p.Arg351Trp) c.594A>T | |
| X | g.120441772T>C | CA414399977 | LAMP2 | c.1051A>G (p.Arg351Gly) c.594A>G | |
| X | g.120441772T>G | CA518400386 | LAMP2 | c.1051A>C (p.Arg351=) c.594A>C | |
| X | g.120441773T>A | CA518400387 | LAMP2 | c.1050A>T (p.Leu350=) c.593A>T | |
| X | g.120441773T>C | CA518400388 | LAMP2 | c.1050A>G (p.Leu350=) c.593A>G | |
| X | g.120441773T>G | CA518400389 | LAMP2 | c.1050A>C (p.Leu350=) c.593A>C | |
| X | g.120441774A>C | CA414399978 | LAMP2 | c.1049T>G (p.Leu350Arg) c.592T>G | |
| X | g.120441774A>G | CA414399979 | LAMP2 | c.1049T>C (p.Leu350Pro) c.592T>C | |
| X | g.120441774A>T | CA414399980 | LAMP2 | c.1049T>A (p.Leu350Gln) c.592T>A | |
| X | g.120441775G>A | CA518400390 | LAMP2 | c.1048C>T (p.Leu350=) c.591C>T | |
| X | g.120441775G>C | CA10654242 | LAMP2 | c.1048C>G (p.Leu350Val) c.591C>G | ClinVar dbSNP |
| X | g.120441775G= | CA2454870890 | LAMP2 | c.1048C= (p.Leu350=) c.591C= | |
| X | g.120441775G>T | CA414399981 | LAMP2 | c.1048C>A (p.Leu350Ile) c.591C>A | |
| X | g.120441776A>C | CA414399982 | LAMP2 | c.1047T>G (p.Asp349Glu) c.590T>G | |
| X | g.120441776A>G | CA518400391 | LAMP2 | c.1047T>C (p.Asp349=) c.590T>C | |
| X | g.120441776A>T | CA414399983 | LAMP2 | c.1047T>A (p.Asp349Glu) c.590T>A | |
| X | g.120441777T>A | CA414399986 | LAMP2 | c.1046A>T (p.Asp349Val) c.589A>T | gnomAD v4 |
| X | g.120441777T>C | CA414399984 | LAMP2 | c.1046A>G (p.Asp349Gly) c.589A>G | |
| X | g.120441777T>G | CA414399985 | LAMP2 | c.1046A>C (p.Asp349Ala) c.589A>C | |
| X | g.120441778C>A | CA414399987 | LAMP2 | c.1045G>T (p.Asp349Tyr) c.588G>T | |
| X | g.120441778C>G | CA414399988 | LAMP2 | c.1045G>C (p.Asp349His) c.588G>C | |
| X | g.120441778C>T | CA414399989 | LAMP2 | c.1045G>A (p.Asp349Asn) c.588G>A | |
| X | g.120441779A>C | CA414399990 | LAMP2 | c.1044T>G (p.Phe348Leu) c.587T>G | |
| X | g.120441779A>G | CA518400393 | LAMP2 | c.1044T>C (p.Phe348=) c.587T>C | |
| X | g.120441779A>T | CA414399991 | LAMP2 | c.1044T>A (p.Phe348Leu) c.587T>A | |
| X | g.120441780A>C | CA414399992 | LAMP2 | c.1043T>G (p.Phe348Cys) c.586T>G | |
| X | g.120441780A>G | CA414399994 | LAMP2 | c.1043T>C (p.Phe348Ser) c.586T>C | |
| X | g.120441780A>T | CA414399993 | LAMP2 | c.1043T>A (p.Phe348Tyr) c.586T>A | |
| X | g.120441781A>C | CA414399995 | LAMP2 | c.1042T>G (p.Phe348Val) c.585T>G | |
| X | g.120441781A>G | CA414399996 | LAMP2 | c.1042T>C (p.Phe348Leu) c.585T>C | |
| X | g.120441781A>T | CA414399997 | LAMP2 | c.1042T>A (p.Phe348Ile) c.585T>A | |
| X | g.120441782G>A | CA518400397 | LAMP2 | c.1041C>T (p.Thr347=) c.584C>T | gnomAD v4 |
| X | g.120441782G>C | CA518400398 | LAMP2 | c.1041C>G (p.Thr347=) c.584C>G | |
| X | g.120441782G>T | CA518400396 | LAMP2 | c.1041C>A (p.Thr347=) c.584C>A | gnomAD v4 COSMIC COSMIC COSMIC |
| X | g.120441783del | CA2573159184 | LAMP2 | c.1041del (p.Phe348LeufsTer3) c.584del | ClinVar dbSNP |
| X | g.120441783G>A | CA414399998 | LAMP2 | c.1040C>T (p.Thr347Ile) c.583C>T | |
| X | g.120441783G>C | CA333684 | LAMP2 | c.1040C>G (p.Thr347Ser) c.583C>G | ClinVar dbSNP |
| X | g.120441783G= | CA2454870891 | LAMP2 | c.1040C= (p.Thr347=) c.583C= | |
| X | g.120441783G>T | CA414399999 | LAMP2 | c.1040C>A (p.Thr347Asn) c.583C>A | |
| X | g.120441784T>A | CA414400000 | LAMP2 | c.1039A>T (p.Thr347Ser) c.582A>T | |
| X | g.120441784T>C | CA414400001 | LAMP2 | c.1039A>G (p.Thr347Ala) c.582A>G | |
| X | g.120441784T>G | CA414400002 | LAMP2 | c.1039A>C (p.Thr347Pro) c.582A>C | |
| X | g.120441785A>C | CA414400003 | LAMP2 | c.1038T>G (p.Asn346Lys) c.581T>G | |
| X | g.120441785A>G | CA518400399 | LAMP2 | c.1038T>C (p.Asn346=) c.581T>C | gnomAD v4 |
| X | g.120441785A>T | CA414400004 | LAMP2 | c.1038T>A (p.Asn346Lys) c.581T>A | |
| X | g.120441785_120441786delinsAT | CA2454870892 | LAMP2 | c.1037_1038delinsAT (p.Asn346=) c.580_581delinsAT | |
| X | g.120441786T>A | CA414400005 | LAMP2 | c.1037A>T (p.Asn346Ile) c.580A>T | |
| X | g.120441786T>C | CA414400007 | LAMP2 | c.1037A>G (p.Asn346Ser) c.580A>G | |
| X | g.120441786T>G | CA414400006 | LAMP2 | c.1037A>C (p.Asn346Thr) c.580A>C | |
| X | g.120441788del | CA916082505 | LAMP2 | c.1037del (p.Asn346IlefsTer5) c.580del | ClinVar dbSNP |
| X | g.120441787T>A | CA414400008 | LAMP2 | c.1036A>T (p.Asn346Tyr) c.579A>T | |
| X | g.120441787T>C | CA414400010 | LAMP2 | c.1036A>G (p.Asn346Asp) c.579A>G | |
| X | g.120441787T>G | CA414400009 | LAMP2 | c.1036A>C (p.Asn346His) c.579A>C | gnomAD v4 |
| X | g.120441788T>A | CA518400406 | LAMP2 | c.1035A>T (p.Ile345=) c.578A>T | |
| X | g.120441788T>C | CA414400011 | LAMP2 | c.1035A>G (p.Ile345Met) c.578A>G | |
| X | g.120441788T>G | CA518400407 | LAMP2 | c.1035A>C (p.Ile345=) c.578A>C | |
| X | g.120441789A>C | CA414400014 | LAMP2 | c.1034T>G (p.Ile345Arg) c.577T>G | |
| X | g.120441789A>G | CA414400012 | LAMP2 | c.1034T>C (p.Ile345Thr) c.577T>C | |
| X | g.120441789A>T | CA414400013 | LAMP2 | c.1034T>A (p.Ile345Lys) c.577T>A | |
| X | g.120441790T>A | CA414400015 | LAMP2 | c.1033A>T (p.Ile345Leu) c.576A>T | |
| X | g.120441790T>C | CA414400016 | LAMP2 | c.1033A>G (p.Ile345Val) c.576A>G | ClinVar dbSNP |
| X | g.120441790T>G | CA414400017 | LAMP2 | c.1033A>C (p.Ile345Leu) c.576A>C | |
| X | g.120441790T= | CA2454870893 | LAMP2 | c.1033A= (p.Ile345=) c.576A= | |
| X | g.120441791C>A | CA414400018 | LAMP2 | c.1032G>T (p.Gln344His) c.575G>T | |
| X | g.120441791C>G | CA414400019 | LAMP2 | c.1032G>C (p.Gln344His) c.575G>C | |
| X | g.120441791C>T | CA518400409 | LAMP2 | c.1032G>A (p.Gln344=) c.575G>A | |
| X | g.120441792T>A | CA414400020 | LAMP2 | c.1031A>T (p.Gln344Leu) c.574A>T | |
| X | g.120441792T>C | CA414400021 | LAMP2 | c.1031A>G (p.Gln344Arg) c.574A>G | |
| X | g.120441792T>G | CA414400022 | LAMP2 | c.1031A>C (p.Gln344Pro) c.574A>C | |
| X | g.120441793G>A | CA414400025 | LAMP2 | c.1030C>T (p.Gln344Ter) c.573C>T | |
| X | g.120441793G>C | CA414400024 | LAMP2 | c.1030C>G (p.Gln344Glu) c.573C>G | ClinVar |
| X | g.120441793G>T | CA414400023 | LAMP2 | c.1030C>A (p.Gln344Lys) c.573C>A | |
| X | g.120441794A>C | CA414400026 | LAMP2 | c.1029T>G (p.Phe343Leu) c.572T>G | |
| X | g.120441794A>G | CA518400412 | LAMP2 | c.1029T>C (p.Phe343=) c.572T>C | |
| X | g.120441794A>T | CA414400027 | LAMP2 | c.1029T>A (p.Phe343Leu) c.572T>A | |
| X | g.120441796del | CA2579692092 | LAMP2 | c.1029del (p.Gln344ArgfsTer2) c.572del | |
| X | g.120441795A>C | CA414400028 | LAMP2 | c.1028T>G (p.Phe343Cys) c.571T>G | |
| X | g.120441795A>G | CA414400029 | LAMP2 | c.1028T>C (p.Phe343Ser) c.571T>C | |
| X | g.120441795A>T | CA414400030 | LAMP2 | c.1028T>A (p.Phe343Tyr) c.571T>A | |
| X | g.120441796A= | CA2454870894 | LAMP2 | c.1027T= (p.Phe343=) c.570T= | |
| X | g.120441796A>C | CA414400031 | LAMP2 | c.1027T>G (p.Phe343Val) c.570T>G | |
| X | g.120441796A>G | CA414400032 | LAMP2 | c.1027T>C (p.Phe343Leu) c.570T>C | dbSNP |
| X | g.120441796A>T | CA414400033 | LAMP2 | c.1027T>A (p.Phe343Ile) c.570T>A | |
| X | g.120441797T>A | CA518400414 | LAMP2 | c.1026A>T (p.Ala342=) c.569A>T | |
| X | g.120441797T>C | CA518400415 | LAMP2 | c.1026A>G (p.Ala342=) c.569A>G | gnomAD v4 |
| X | g.120441797T>G | CA518400416 | LAMP2 | c.1026A>C (p.Ala342=) c.569A>C | |
| X | g.120441798del | CA2573055076 | LAMP2 | c.1025del (p.Ala342AspfsTer4) c.568del | dbSNP |
| X | g.120441798G>A | CA10505214 | LAMP2 | c.1025C>T (p.Ala342Val) c.568C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441798G>C | CA414400034 | LAMP2 | c.1025C>G (p.Ala342Gly) c.568C>G | dbSNP |
| X | g.120441798G= | CA2454870895 | LAMP2 | c.1025C= (p.Ala342=) c.568C= | |
| X | g.120441798G>T | CA414400035 | LAMP2 | c.1025C>A (p.Ala342Glu) c.568C>A | gnomAD v4 |
| X | g.120441799C>A | CA414400037 | LAMP2 | c.1024G>T (p.Ala342Ser) c.567G>T | |
| X | g.120441799C>G | CA414400038 | LAMP2 | c.1024G>C (p.Ala342Pro) c.567G>C | |
| X | g.120441799C>T | CA414400036 | LAMP2 | c.1024G>A (p.Ala342Thr) c.567G>A | ClinVar |
| X | g.120441800T>A | CA518400418 | LAMP2 | c.1023A>T (p.Gly341=) c.566A>T | |
| X | g.120441800T>C | CA518400419 | LAMP2 | c.1023A>G (p.Gly341=) c.566A>G | |
| X | g.120441800T>G | CA518400420 | LAMP2 | c.1023A>C (p.Gly341=) c.566A>C | |
| X | g.120441801C>A | CA414400039 | LAMP2 | c.1022G>T (p.Gly341Val) c.565G>T | |
| X | g.120441801C>G | CA414400040 | LAMP2 | c.1022G>C (p.Gly341Ala) c.565G>C | |
| X | g.120441801C>T | CA414400041 | LAMP2 | c.1022G>A (p.Gly341Glu) c.565G>A | |
| X | g.120441802C>A | CA414400042 | LAMP2 | c.1021G>T (p.Gly341Ter) c.564G>T | |
| X | g.120441802C= | CA2454870897 | LAMP2 | c.1021G= (p.Gly341=) c.564G= | |
| X | g.120441802C>G | CA10505215 | LAMP2 | c.1021G>C (p.Gly341Arg) c.564G>C | dbSNP ExAC gnomAD v2 |
| X | g.120441802C>T | CA414400043 | LAMP2 | c.1021G>A (p.Gly341Arg) c.564G>A | |
| X | g.120441802_120441803delinsCA | CA2454870896 | LAMP2 | c.1020_1021delinsTG (p.Ser340=) c.563_564delinsTG | |
| X | g.120441803del | CA183461 | LAMP2 | c.1020del (p.Gly341GlufsTer5) c.563del | ClinVar dbSNP |
| X | g.120441803A>C | CA518400423 | LAMP2 | c.1020T>G (p.Ser340=) c.563T>G | |
| X | g.120441803A>G | CA518400422 | LAMP2 | c.1020T>C (p.Ser340=) c.563T>C | |
| X | g.120441803A>T | CA518400421 | LAMP2 | c.1020T>A (p.Ser340=) c.563T>A | |
| X | g.120441804G>A | CA414400044 | LAMP2 | c.1019C>T (p.Ser340Phe) c.562C>T | |
| X | g.120441804G>C | CA414400045 | LAMP2 | c.1019C>G (p.Ser340Cys) c.562C>G | |
| X | g.120441804G>T | CA414400046 | LAMP2 | c.1019C>A (p.Ser340Tyr) c.562C>A | |
| X | g.120441805A>C | CA414400047 | LAMP2 | c.1018T>G (p.Ser340Ala) c.561T>G | |
| X | g.120441805A>G | CA414400048 | LAMP2 | c.1018T>C (p.Ser340Pro) c.561T>C | |
| X | g.120441805A>T | CA414400049 | LAMP2 | c.1018T>A (p.Ser340Thr) c.561T>A | |
| X | g.120441806C>A | CA518400432 | LAMP2 | c.1017G>T (p.Val339=) c.560G>T | |
| X | g.120441806C>G | CA518400428 | LAMP2 | c.1017G>C (p.Val339=) c.560G>C | |
| X | g.120441806C>T | CA518400430 | LAMP2 | c.1017G>A (p.Val339=) c.560G>A | gnomAD v4 |
| X | g.120441807A>C | CA414400050 | LAMP2 | c.1016T>G (p.Val339Gly) c.559T>G | |
| X | g.120441807A>G | CA414400052 | LAMP2 | c.1016T>C (p.Val339Ala) c.559T>C | |
| X | g.120441807A>T | CA414400051 | LAMP2 | c.1016T>A (p.Val339Glu) c.559T>A | |
| X | g.120441808C>A | CA414400053 | LAMP2 | c.1015G>T (p.Val339Leu) c.558G>T | |
| X | g.120441808C= | CA2454870898 | LAMP2 | c.1015G= (p.Val339=) c.558G= | |
| X | g.120441808C>G | CA414400054 | LAMP2 | c.1015G>C (p.Val339Leu) c.558G>C | ClinVar dbSNP gnomAD v4 |
| X | g.120441808C>T | CA414400055 | LAMP2 | c.1015G>A (p.Val339Met) c.558G>A | |
| X | g.120441809T>A | CA518400436 | LAMP2 | c.1014A>T (p.Ser338=) c.557A>T | |
| X | g.120441809T>C | CA518400439 | LAMP2 | c.1014A>G (p.Ser338=) c.557A>G | |
| X | g.120441809T>G | CA518400437 | LAMP2 | c.1014A>C (p.Ser338=) c.557A>C | |
| X | g.120441810G>A | CA414400056 | LAMP2 | c.1013C>T (p.Ser338Leu) c.556C>T | |
| X | g.120441810G>C | CA16616430 | LAMP2 | c.1013C>G (p.Ser338Ter) c.556C>G | ClinVar dbSNP |
| X | g.120441810G= | CA2454870899 | LAMP2 | c.1013C= (p.Ser338=) c.556C= | |
| X | g.120441810G>T | CA414400057 | LAMP2 | c.1013C>A (p.Ser338Ter) c.556C>A | |
| X | g.120441811A>C | CA414400058 | LAMP2 | c.1012T>G (p.Ser338Ala) c.555T>G | |
| X | g.120441811A>G | CA414400059 | LAMP2 | c.1012T>C (p.Ser338Pro) c.555T>C | |
| X | g.120441811A>T | CA414400060 | LAMP2 | c.1012T>A (p.Ser338Thr) c.555T>A | |
| X | g.120441812A>C | CA518400441 | LAMP2 | c.1011T>G (p.Val337=) c.554T>G | |
| X | g.120441812A>G | CA518400442 | LAMP2 | c.1011T>C (p.Val337=) c.554T>C | |
| X | g.120441812A>T | CA518400443 | LAMP2 | c.1011T>A (p.Val337=) c.554T>A | |
| X | g.120441813A>C | CA414400061 | LAMP2 | c.1010T>G (p.Val337Gly) c.553T>G | |
| X | g.120441813A>G | CA414400062 | LAMP2 | c.1010T>C (p.Val337Ala) c.553T>C | |
| X | g.120441813A>T | CA414400063 | LAMP2 | c.1010T>A (p.Val337Asp) c.553T>A | |
| X | g.120441814C>A | CA414400065 | LAMP2 | c.1009G>T (p.Val337Phe) c.552G>T | |
| X | g.120441814C= | CA2454870900 | LAMP2 | c.1009G= (p.Val337=) c.552G= | |
| X | g.120441814C>G | CA414400066 | LAMP2 | c.1009G>C (p.Val337Leu) c.552G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.120441814C>T | CA414400064 | LAMP2 | c.1009G>A (p.Val337Ile) c.552G>A | |
| X | g.120441815A>C | CA518400444 | LAMP2 | c.1008T>G (p.Thr336=) c.551T>G | |
| X | g.120441815A>G | CA518400446 | LAMP2 | c.1008T>C (p.Thr336=) c.551T>C | |
| X | g.120441815A>T | CA518400447 | LAMP2 | c.1008T>A (p.Thr336=) c.551T>A | |
| X | g.120441816G>A | CA414400069 | LAMP2 | c.1007C>T (p.Thr336Ile) c.550C>T | |
| X | g.120441816G>C | CA414400067 | LAMP2 | c.1007C>G (p.Thr336Ser) c.550C>G | gnomAD v4 |
| X | g.120441816G>T | CA414400068 | LAMP2 | c.1007C>A (p.Thr336Asn) c.550C>A | |
| X | g.120441817T>A | CA414400070 | LAMP2 | c.1006A>T (p.Thr336Ser) c.549A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441817T>C | CA414400071 | LAMP2 | c.1006A>G (p.Thr336Ala) c.549A>G | |
| X | g.120441817T>G | CA414400072 | LAMP2 | c.1006A>C (p.Thr336Pro) c.549A>C | |
| X | g.120441817T= | CA2454870901 | LAMP2 | c.1006A= (p.Thr336=) c.549A= | |
| X | g.120441818C>A | CA414400073 | LAMP2 | c.1005G>T (p.Gln335His) c.548G>T | |
| X | g.120441818C= | CA2454870902 | LAMP2 | c.1005G= (p.Gln335=) c.548G= | |
| X | g.120441818C>G | CA414400074 | LAMP2 | c.1005G>C (p.Gln335His) c.548G>C | |
| X | g.120441818C>T | CA518400451 | LAMP2 | c.1005G>A (p.Gln335=) c.548G>A | dbSNP |
| X | g.120441819T>A | CA414400075 | LAMP2 | c.1004A>T (p.Gln335Leu) c.547A>T | |
| X | g.120441819T>C | CA414400076 | LAMP2 | c.1004A>G (p.Gln335Arg) c.547A>G | |
| X | g.120441819T>G | CA414400077 | LAMP2 | c.1004A>C (p.Gln335Pro) c.547A>C | |
| X | g.120441820G>A | CA414400078 | LAMP2 | c.1003C>T (p.Gln335Ter) c.546C>T | |
| X | g.120441820G>C | CA10505216 | LAMP2 | c.1003C>G (p.Gln335Glu) c.546C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.120441820G= | CA2454870903 | LAMP2 | c.1003C= (p.Gln335=) c.546C= | |
| X | g.120441820G>T | CA414400079 | LAMP2 | c.1003C>A (p.Gln335Lys) c.546C>A | |
| X | g.120441821C>A | CA414400080 | LAMP2 | c.1002G>T (p.Glu334Asp) c.545G>T | |
| X | g.120441821C= | CA2454870904 | LAMP2 | c.1002G= (p.Glu334=) c.545G= | |
| X | g.120441821C>G | CA414400081 | LAMP2 | c.1002G>C (p.Glu334Asp) c.545G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.120441821C>T | CA518400455 | LAMP2 | c.1002G>A (p.Glu334=) c.545G>A | ClinVar |
| X | g.120441822T>A | CA414400082 | LAMP2 | c.1001A>T (p.Glu334Val) c.544A>T | |
| X | g.120441822T>C | CA414400083 | LAMP2 | c.1001A>G (p.Glu334Gly) c.544A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441822T>G | CA414400084 | LAMP2 | c.1001A>C (p.Glu334Ala) c.544A>C | |
| X | g.120441822T= | CA2454870905 | LAMP2 | c.1001A= (p.Glu334=) c.544A= | |
| X | g.120441823C>A | CA414400085 | LAMP2 | c.1000G>T (p.Glu334Ter) c.543G>T | |
| X | g.120441823C= | CA2454870907 | LAMP2 | c.1000G= (p.Glu334=) c.543G= | |
| X | g.120441823C>G | CA10505217 | LAMP2 | c.1000G>C (p.Glu334Gln) c.543G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.120441823C>T | CA414400086 | LAMP2 | c.1000G>A (p.Glu334Lys) c.543G>A | |
| X | g.120441823_120441824delinsCT | CA2454870906 | LAMP2 | c.999_1000delinsAG (p.Lys333=) c.542_543delinsAG |