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 |
|---|---|---|---|---|---|
| 11 | g.1753505A>C | CA379092308 | CTSD | c.1237T>G (p.Ter413Glu) c.1132T>G (p.Ter378Glu) c.634+28T>G c.*403T>G (n.*403T>G) c.1354T>G (p.Ter452Glu) c.1071+298T>G (n.1071+298T>G) c.1216T>G (p.Ter406Glu) c.72+298T>G (n.72+298T>G) c.1231T>G (p.Ter411Glu) n.835T>G n.3665T>G c.1219T>G (p.Ter407Glu) c.1228T>G (p.Ter410Glu) n.545T>G c.*1098T>G (n.*1098T>G) c.471+298T>G (n.471+298T>G) c.568T>G (p.Ter190Glu) | |
| 11 | g.1753505A>G | CA379092307 | CTSD | c.1237T>C (p.Ter413Gln) c.1132T>C (p.Ter378Gln) c.634+28T>C c.*403T>C (n.*403T>C) c.1354T>C (p.Ter452Gln) c.1071+298T>C (n.1071+298T>C) c.1216T>C (p.Ter406Gln) c.72+298T>C (n.72+298T>C) c.1231T>C (p.Ter411Gln) n.835T>C n.3665T>C c.1219T>C (p.Ter407Gln) c.1228T>C (p.Ter410Gln) n.545T>C c.*1098T>C (n.*1098T>C) c.471+298T>C (n.471+298T>C) c.568T>C (p.Ter190Gln) | gnomAD v4 |
| 11 | g.1753505A>T | CA379092306 | CTSD | c.1237T>A (p.Ter413Lys) c.1132T>A (p.Ter378Lys) c.634+28T>A c.*403T>A (n.*403T>A) c.1354T>A (p.Ter452Lys) c.1071+298T>A (n.1071+298T>A) c.1216T>A (p.Ter406Lys) c.72+298T>A (n.72+298T>A) c.1231T>A (p.Ter411Lys) n.835T>A n.3665T>A c.1219T>A (p.Ter407Lys) c.1228T>A (p.Ter410Lys) n.545T>A c.*1098T>A (n.*1098T>A) c.471+298T>A (n.471+298T>A) c.568T>A (p.Ter190Lys) | |
| 11 | g.1753506G>A | CA472139335 | CTSD | c.1236C>T (p.Leu412=) c.1131C>T (p.Leu377=) c.634+27C>T c.*402C>T (n.*402C>T) c.1353C>T (p.Leu451=) c.1071+297C>T (n.1071+297C>T) c.1215C>T (p.Leu405=) c.72+297C>T (n.72+297C>T) c.1230C>T (p.Leu410=) n.834C>T n.3664C>T c.1218C>T (p.Leu406=) c.1227C>T (p.Leu409=) n.544C>T c.*1097C>T (n.*1097C>T) c.471+297C>T (n.471+297C>T) c.567C>T (p.Leu189=) | ClinVar dbSNP |
| 11 | g.1753506G>C | CA472139330 | CTSD | c.1236C>G (p.Leu412=) c.1131C>G (p.Leu377=) c.634+27C>G c.*402C>G (n.*402C>G) c.1353C>G (p.Leu451=) c.1071+297C>G (n.1071+297C>G) c.1215C>G (p.Leu405=) c.72+297C>G (n.72+297C>G) c.1230C>G (p.Leu410=) n.834C>G n.3664C>G c.1218C>G (p.Leu406=) c.1227C>G (p.Leu409=) n.544C>G c.*1097C>G (n.*1097C>G) c.471+297C>G (n.471+297C>G) c.567C>G (p.Leu189=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1753506G= | CA1947825083 | CTSD | c.1236C= (p.Leu412=) c.1131C= (p.Leu377=) c.634+27C= c.*402C= (n.*402C=) c.1353C= (p.Leu451=) c.1071+297C= (n.1071+297C=) c.1215C= (p.Leu405=) c.72+297C= (n.72+297C=) c.1230C= (p.Leu410=) n.834C= n.3664C= c.1218C= (p.Leu406=) c.1227C= (p.Leu409=) n.544C= c.*1097C= (n.*1097C=) c.471+297C= (n.471+297C=) c.567C= (p.Leu189=) | |
| 11 | g.1753506G>T | CA472139339 | CTSD | c.1236C>A (p.Leu412=) c.1131C>A (p.Leu377=) c.634+27C>A c.*402C>A (n.*402C>A) c.1353C>A (p.Leu451=) c.1071+297C>A (n.1071+297C>A) c.1215C>A (p.Leu405=) c.72+297C>A (n.72+297C>A) c.1230C>A (p.Leu410=) n.834C>A n.3664C>A c.1218C>A (p.Leu406=) c.1227C>A (p.Leu409=) n.544C>A c.*1097C>A (n.*1097C>A) c.471+297C>A (n.471+297C>A) c.567C>A (p.Leu189=) | |
| 11 | g.1753507A= | CA1947825085 | CTSD | c.1235T= (p.Leu412=) c.1130T= (p.Leu377=) c.634+26T= c.*401T= (n.*401T=) c.1352T= (p.Leu451=) c.1071+296T= (n.1071+296T=) c.1214T= (p.Leu405=) c.72+296T= (n.72+296T=) c.1229T= (p.Leu410=) n.833T= n.3663T= c.1217T= (p.Leu406=) c.1226T= (p.Leu409=) n.543T= c.*1096T= (n.*1096T=) c.471+296T= (n.471+296T=) c.566T= (p.Leu189=) | |
| 11 | g.1753507A>C | CA379092309 | CTSD | c.1235T>G (p.Leu412Arg) c.1130T>G (p.Leu377Arg) c.634+26T>G c.*401T>G (n.*401T>G) c.1352T>G (p.Leu451Arg) c.1071+296T>G (n.1071+296T>G) c.1214T>G (p.Leu405Arg) c.72+296T>G (n.72+296T>G) c.1229T>G (p.Leu410Arg) n.833T>G n.3663T>G c.1217T>G (p.Leu406Arg) c.1226T>G (p.Leu409Arg) n.543T>G c.*1096T>G (n.*1096T>G) c.471+296T>G (n.471+296T>G) c.566T>G (p.Leu189Arg) | ClinVar dbSNP |
| 11 | g.1753507A>G | CA379092310 | CTSD | c.1235T>C (p.Leu412Pro) c.1130T>C (p.Leu377Pro) c.634+26T>C c.*401T>C (n.*401T>C) c.1352T>C (p.Leu451Pro) c.1071+296T>C (n.1071+296T>C) c.1214T>C (p.Leu405Pro) c.72+296T>C (n.72+296T>C) c.1229T>C (p.Leu410Pro) n.833T>C n.3663T>C c.1217T>C (p.Leu406Pro) c.1226T>C (p.Leu409Pro) n.543T>C c.*1096T>C (n.*1096T>C) c.471+296T>C (n.471+296T>C) c.566T>C (p.Leu189Pro) | |
| 11 | g.1753507A>T | CA379092311 | CTSD | c.1235T>A (p.Leu412His) c.1130T>A (p.Leu377His) c.634+26T>A c.*401T>A (n.*401T>A) c.1352T>A (p.Leu451His) c.1071+296T>A (n.1071+296T>A) c.1214T>A (p.Leu405His) c.72+296T>A (n.72+296T>A) c.1229T>A (p.Leu410His) n.833T>A n.3663T>A c.1217T>A (p.Leu406His) c.1226T>A (p.Leu409His) n.543T>A c.*1096T>A (n.*1096T>A) c.471+296T>A (n.471+296T>A) c.566T>A (p.Leu189His) | |
| 11 | g.1753507_1753511delinsAGGCG | CA1947825084 | CTSD | c.1231_1235delinsCGCCT (p.Arg411=) c.1126_1130delinsCGCCT (p.Arg376=) c.634+22_634+26delinsCGCCT c.*397_*401delinsCGCCT (n.*397_*401delinsCGCCT) c.1348_1352delinsCGCCT (p.Arg450=) c.1071+292_1071+296delinsCGCCT (n.1071+292_1071+296delinsCGCCT) c.1210_1214delinsCGCCT (p.Arg404=) c.72+292_72+296delinsCGCCT (n.72+292_72+296delinsCGCCT) c.1225_1229delinsCGCCT (p.Arg409=) n.829_833delinsCGCCT n.3659_3663delinsCGCCT c.1213_1217delinsCGCCT (p.Arg405=) c.1222_1226delinsCGCCT (p.Arg408=) n.539_543delinsCGCCT c.*1092_*1096delinsCGCCT (n.*1092_*1096delinsCGCCT) c.471+292_471+296delinsCGCCT (n.471+292_471+296delinsCGCCT) c.562_566delinsCGCCT (p.Arg188=) | |
| 11 | g.1753508G>A | CA379092312 | CTSD | c.1234C>T (p.Leu412Phe) c.1129C>T (p.Leu377Phe) c.634+25C>T c.*400C>T (n.*400C>T) c.1351C>T (p.Leu451Phe) c.1071+295C>T (n.1071+295C>T) c.1213C>T (p.Leu405Phe) c.72+295C>T (n.72+295C>T) c.1228C>T (p.Leu410Phe) n.832C>T n.3662C>T c.1216C>T (p.Leu406Phe) c.1225C>T (p.Leu409Phe) n.542C>T c.*1095C>T (n.*1095C>T) c.471+295C>T (n.471+295C>T) c.565C>T (p.Leu189Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1753508G>C | CA379092313 | CTSD | c.1234C>G (p.Leu412Val) c.1129C>G (p.Leu377Val) c.634+25C>G c.*400C>G (n.*400C>G) c.1351C>G (p.Leu451Val) c.1071+295C>G (n.1071+295C>G) c.1213C>G (p.Leu405Val) c.72+295C>G (n.72+295C>G) c.1228C>G (p.Leu410Val) n.832C>G n.3662C>G c.1216C>G (p.Leu406Val) c.1225C>G (p.Leu409Val) n.542C>G c.*1095C>G (n.*1095C>G) c.471+295C>G (n.471+295C>G) c.565C>G (p.Leu189Val) | gnomAD v4 |
| 11 | g.1753508G= | CA1947825086 | CTSD | c.1234C= (p.Leu412=) c.1129C= (p.Leu377=) c.634+25C= c.*400C= (n.*400C=) c.1351C= (p.Leu451=) c.1071+295C= (n.1071+295C=) c.1213C= (p.Leu405=) c.72+295C= (n.72+295C=) c.1228C= (p.Leu410=) n.832C= n.3662C= c.1216C= (p.Leu406=) c.1225C= (p.Leu409=) n.542C= c.*1095C= (n.*1095C=) c.471+295C= (n.471+295C=) c.565C= (p.Leu189=) | |
| 11 | g.1753508G>T | CA379092314 | CTSD | c.1234C>A (p.Leu412Ile) c.1129C>A (p.Leu377Ile) c.634+25C>A c.*400C>A (n.*400C>A) c.1351C>A (p.Leu451Ile) c.1071+295C>A (n.1071+295C>A) c.1213C>A (p.Leu405Ile) c.72+295C>A (n.72+295C>A) c.1228C>A (p.Leu410Ile) n.832C>A n.3662C>A c.1216C>A (p.Leu406Ile) c.1225C>A (p.Leu409Ile) n.542C>A c.*1095C>A (n.*1095C>A) c.471+295C>A (n.471+295C>A) c.565C>A (p.Leu189Ile) | |
| 11 | g.1753511_1753514del | CA918804389 | CTSD | c.1231_1234del (p.Arg411SerfsTer?) c.1126_1129del (p.Arg376SerfsTer?) c.634+22_634+25del c.*397_*400del (n.*397_*400del) c.1348_1351del (p.Arg450SerfsTer?) c.1071+292_1071+295del (n.1071+292_1071+295del) c.1210_1213del (p.Arg404SerfsTer?) c.72+292_72+295del (n.72+292_72+295del) c.1225_1228del (p.Arg409SerfsTer?) n.829_832del n.3659_3662del c.1213_1216del (p.Arg405SerfsTer?) c.1222_1225del (p.Arg408SerfsTer?) n.539_542del c.*1092_*1095del (n.*1092_*1095del) c.471+292_471+295del (n.471+292_471+295del) c.562_565del (p.Arg188SerfsTer?) | dbSNP gnomAD v4 |
| 11 | g.1753509G>A | CA472139357 | CTSD | c.1233C>T (p.Arg411=) c.1128C>T (p.Arg376=) c.634+24C>T c.*399C>T (n.*399C>T) c.1350C>T (p.Arg450=) c.1071+294C>T (n.1071+294C>T) c.1212C>T (p.Arg404=) c.72+294C>T (n.72+294C>T) c.1227C>T (p.Arg409=) n.831C>T n.3661C>T c.1215C>T (p.Arg405=) c.1224C>T (p.Arg408=) n.541C>T c.*1094C>T (n.*1094C>T) c.471+294C>T (n.471+294C>T) c.564C>T (p.Arg188=) | gnomAD v4 |
| 11 | g.1753509G>C | CA472139359 | CTSD | c.1233C>G (p.Arg411=) c.1128C>G (p.Arg376=) c.634+24C>G c.*399C>G (n.*399C>G) c.1350C>G (p.Arg450=) c.1071+294C>G (n.1071+294C>G) c.1212C>G (p.Arg404=) c.72+294C>G (n.72+294C>G) c.1227C>G (p.Arg409=) n.831C>G n.3661C>G c.1215C>G (p.Arg405=) c.1224C>G (p.Arg408=) n.541C>G c.*1094C>G (n.*1094C>G) c.471+294C>G (n.471+294C>G) c.564C>G (p.Arg188=) | |
| 11 | g.1753509G>T | CA472139363 | CTSD | c.1233C>A (p.Arg411=) c.1128C>A (p.Arg376=) c.634+24C>A c.*399C>A (n.*399C>A) c.1350C>A (p.Arg450=) c.1071+294C>A (n.1071+294C>A) c.1212C>A (p.Arg404=) c.72+294C>A (n.72+294C>A) c.1227C>A (p.Arg409=) n.831C>A n.3661C>A c.1215C>A (p.Arg405=) c.1224C>A (p.Arg408=) n.541C>A c.*1094C>A (n.*1094C>A) c.471+294C>A (n.471+294C>A) c.564C>A (p.Arg188=) | |
| 11 | g.1753510C>A | CA379092315 | CTSD | c.1232G>T (p.Arg411Leu) c.1127G>T (p.Arg376Leu) c.634+23G>T c.*398G>T (n.*398G>T) c.1349G>T (p.Arg450Leu) c.1071+293G>T (n.1071+293G>T) c.1211G>T (p.Arg404Leu) c.72+293G>T (n.72+293G>T) c.1226G>T (p.Arg409Leu) n.830G>T n.3660G>T c.1214G>T (p.Arg405Leu) c.1223G>T (p.Arg408Leu) n.540G>T c.*1093G>T (n.*1093G>T) c.471+293G>T (n.471+293G>T) c.563G>T (p.Arg188Leu) | |
| 11 | g.1753510C= | CA1947825087 | CTSD | c.1232G= (p.Arg411=) c.1127G= (p.Arg376=) c.634+23G= c.*398G= (n.*398G=) c.1349G= (p.Arg450=) c.1071+293G= (n.1071+293G=) c.1211G= (p.Arg404=) c.72+293G= (n.72+293G=) c.1226G= (p.Arg409=) n.830G= n.3660G= c.1214G= (p.Arg405=) c.1223G= (p.Arg408=) n.540G= c.*1093G= (n.*1093G=) c.471+293G= (n.471+293G=) c.563G= (p.Arg188=) | |
| 11 | g.1753510C>G | CA379092316 | CTSD | c.1232G>C (p.Arg411Pro) c.1127G>C (p.Arg376Pro) c.634+23G>C c.*398G>C (n.*398G>C) c.1349G>C (p.Arg450Pro) c.1071+293G>C (n.1071+293G>C) c.1211G>C (p.Arg404Pro) c.72+293G>C (n.72+293G>C) c.1226G>C (p.Arg409Pro) n.830G>C n.3660G>C c.1214G>C (p.Arg405Pro) c.1223G>C (p.Arg408Pro) n.540G>C c.*1093G>C (n.*1093G>C) c.471+293G>C (n.471+293G>C) c.563G>C (p.Arg188Pro) | |
| 11 | g.1753510C>T | CA5813864 | CTSD | c.1232G>A (p.Arg411His) c.1127G>A (p.Arg376His) c.634+23G>A c.*398G>A (n.*398G>A) c.1349G>A (p.Arg450His) c.1071+293G>A (n.1071+293G>A) c.1211G>A (p.Arg404His) c.72+293G>A (n.72+293G>A) c.1226G>A (p.Arg409His) n.830G>A n.3660G>A c.1214G>A (p.Arg405His) c.1223G>A (p.Arg408His) n.540G>A c.*1093G>A (n.*1093G>A) c.471+293G>A (n.471+293G>A) c.563G>A (p.Arg188His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1753511G>A | CA5813865 | CTSD | c.1231C>T (p.Arg411Cys) c.1126C>T (p.Arg376Cys) c.634+22C>T c.*397C>T (n.*397C>T) c.1348C>T (p.Arg450Cys) c.1071+292C>T (n.1071+292C>T) c.1210C>T (p.Arg404Cys) c.72+292C>T (n.72+292C>T) c.1225C>T (p.Arg409Cys) n.829C>T n.3659C>T c.1213C>T (p.Arg405Cys) c.1222C>T (p.Arg408Cys) n.539C>T c.*1092C>T (n.*1092C>T) c.471+292C>T (n.471+292C>T) c.562C>T (p.Arg188Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753511G>C | CA379092317 | CTSD | c.1231C>G (p.Arg411Gly) c.1126C>G (p.Arg376Gly) c.634+22C>G c.*397C>G (n.*397C>G) c.1348C>G (p.Arg450Gly) c.1071+292C>G (n.1071+292C>G) c.1210C>G (p.Arg404Gly) c.72+292C>G (n.72+292C>G) c.1225C>G (p.Arg409Gly) n.829C>G n.3659C>G c.1213C>G (p.Arg405Gly) c.1222C>G (p.Arg408Gly) n.539C>G c.*1092C>G (n.*1092C>G) c.471+292C>G (n.471+292C>G) c.562C>G (p.Arg188Gly) | |
| 11 | g.1753511G= | CA1947825088 | CTSD | c.1231C= (p.Arg411=) c.1126C= (p.Arg376=) c.634+22C= c.*397C= (n.*397C=) c.1348C= (p.Arg450=) c.1071+292C= (n.1071+292C=) c.1210C= (p.Arg404=) c.72+292C= (n.72+292C=) c.1225C= (p.Arg409=) n.829C= n.3659C= c.1213C= (p.Arg405=) c.1222C= (p.Arg408=) n.539C= c.*1092C= (n.*1092C=) c.471+292C= (n.471+292C=) c.562C= (p.Arg188=) | |
| 11 | g.1753511G>T | CA379092318 | CTSD | c.1231C>A (p.Arg411Ser) c.1126C>A (p.Arg376Ser) c.634+22C>A c.*397C>A (n.*397C>A) c.1348C>A (p.Arg450Ser) c.1071+292C>A (n.1071+292C>A) c.1210C>A (p.Arg404Ser) c.72+292C>A (n.72+292C>A) c.1225C>A (p.Arg409Ser) n.829C>A n.3659C>A c.1213C>A (p.Arg405Ser) c.1222C>A (p.Arg408Ser) n.539C>A c.*1092C>A (n.*1092C>A) c.471+292C>A (n.471+292C>A) c.562C>A (p.Arg188Ser) | |
| 11 | g.1753512G>A | CA5813866 | CTSD | c.1230C>T (p.Ala410=) c.1125C>T (p.Ala375=) c.634+21C>T c.*396C>T (n.*396C>T) c.1347C>T (p.Ala449=) c.1071+291C>T (n.1071+291C>T) c.1209C>T (p.Ala403=) c.72+291C>T (n.72+291C>T) c.1224C>T (p.Ala408=) n.828C>T n.3658C>T c.1212C>T (p.Ala404=) c.1221C>T (p.Ala407=) n.538C>T c.*1091C>T (n.*1091C>T) c.471+291C>T (n.471+291C>T) c.561C>T (p.Ala187=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1753512G>C | CA5813867 | CTSD | c.1230C>G (p.Ala410=) c.1125C>G (p.Ala375=) c.634+21C>G c.*396C>G (n.*396C>G) c.1347C>G (p.Ala449=) c.1071+291C>G (n.1071+291C>G) c.1209C>G (p.Ala403=) c.72+291C>G (n.72+291C>G) c.1224C>G (p.Ala408=) n.828C>G n.3658C>G c.1212C>G (p.Ala404=) c.1221C>G (p.Ala407=) n.538C>G c.*1091C>G (n.*1091C>G) c.471+291C>G (n.471+291C>G) c.561C>G (p.Ala187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753512G= | CA1947825089 | CTSD | c.1230C= (p.Ala410=) c.1125C= (p.Ala375=) c.634+21C= c.*396C= (n.*396C=) c.1347C= (p.Ala449=) c.1071+291C= (n.1071+291C=) c.1209C= (p.Ala403=) c.72+291C= (n.72+291C=) c.1224C= (p.Ala408=) n.828C= n.3658C= c.1212C= (p.Ala404=) c.1221C= (p.Ala407=) n.538C= c.*1091C= (n.*1091C=) c.471+291C= (n.471+291C=) c.561C= (p.Ala187=) | |
| 11 | g.1753512G>T | CA472139382 | CTSD | c.1230C>A (p.Ala410=) c.1125C>A (p.Ala375=) c.634+21C>A c.*396C>A (n.*396C>A) c.1347C>A (p.Ala449=) c.1071+291C>A (n.1071+291C>A) c.1209C>A (p.Ala403=) c.72+291C>A (n.72+291C>A) c.1224C>A (p.Ala408=) n.828C>A n.3658C>A c.1212C>A (p.Ala404=) c.1221C>A (p.Ala407=) n.538C>A c.*1091C>A (n.*1091C>A) c.471+291C>A (n.471+291C>A) c.561C>A (p.Ala187=) | |
| 11 | g.1753513G>A | CA379092319 | CTSD | c.1229C>T (p.Ala410Val) c.1124C>T (p.Ala375Val) c.634+20C>T c.*395C>T (n.*395C>T) c.1346C>T (p.Ala449Val) c.1071+290C>T (n.1071+290C>T) c.1208C>T (p.Ala403Val) c.72+290C>T (n.72+290C>T) c.1223C>T (p.Ala408Val) n.827C>T n.3657C>T c.1211C>T (p.Ala404Val) c.1220C>T (p.Ala407Val) n.537C>T c.*1090C>T (n.*1090C>T) c.471+290C>T (n.471+290C>T) c.560C>T (p.Ala187Val) | |
| 11 | g.1753513G>C | CA379092320 | CTSD | c.1229C>G (p.Ala410Gly) c.1124C>G (p.Ala375Gly) c.634+20C>G c.*395C>G (n.*395C>G) c.1346C>G (p.Ala449Gly) c.1071+290C>G (n.1071+290C>G) c.1208C>G (p.Ala403Gly) c.72+290C>G (n.72+290C>G) c.1223C>G (p.Ala408Gly) n.827C>G n.3657C>G c.1211C>G (p.Ala404Gly) c.1220C>G (p.Ala407Gly) n.537C>G c.*1090C>G (n.*1090C>G) c.471+290C>G (n.471+290C>G) c.560C>G (p.Ala187Gly) | ClinVar dbSNP |
| 11 | g.1753513G= | CA1947825090 | CTSD | c.1229C= (p.Ala410=) c.1124C= (p.Ala375=) c.634+20C= c.*395C= (n.*395C=) c.1346C= (p.Ala449=) c.1071+290C= (n.1071+290C=) c.1208C= (p.Ala403=) c.72+290C= (n.72+290C=) c.1223C= (p.Ala408=) n.827C= n.3657C= c.1211C= (p.Ala404=) c.1220C= (p.Ala407=) n.537C= c.*1090C= (n.*1090C=) c.471+290C= (n.471+290C=) c.560C= (p.Ala187=) | |
| 11 | g.1753513G>T | CA379092321 | CTSD | c.1229C>A (p.Ala410Asp) c.1124C>A (p.Ala375Asp) c.634+20C>A c.*395C>A (n.*395C>A) c.1346C>A (p.Ala449Asp) c.1071+290C>A (n.1071+290C>A) c.1208C>A (p.Ala403Asp) c.72+290C>A (n.72+290C>A) c.1223C>A (p.Ala408Asp) n.827C>A n.3657C>A c.1211C>A (p.Ala404Asp) c.1220C>A (p.Ala407Asp) n.537C>A c.*1090C>A (n.*1090C>A) c.471+290C>A (n.471+290C>A) c.560C>A (p.Ala187Asp) | |
| 11 | g.1753514C>A | CA379092322 | CTSD | c.1228G>T (p.Ala410Ser) c.1123G>T (p.Ala375Ser) c.634+19G>T c.*394G>T (n.*394G>T) c.1345G>T (p.Ala449Ser) c.1071+289G>T (n.1071+289G>T) c.1207G>T (p.Ala403Ser) c.72+289G>T (n.72+289G>T) c.1222G>T (p.Ala408Ser) n.826G>T n.3656G>T c.1210G>T (p.Ala404Ser) c.1219G>T (p.Ala407Ser) n.536G>T c.*1089G>T (n.*1089G>T) c.471+289G>T (n.471+289G>T) c.559G>T (p.Ala187Ser) | dbSNP gnomAD v2 |
| 11 | g.1753514C= | CA1947825091 | CTSD | c.1228G= (p.Ala410=) c.1123G= (p.Ala375=) c.634+19G= c.*394G= (n.*394G=) c.1345G= (p.Ala449=) c.1071+289G= (n.1071+289G=) c.1207G= (p.Ala403=) c.72+289G= (n.72+289G=) c.1222G= (p.Ala408=) n.826G= n.3656G= c.1210G= (p.Ala404=) c.1219G= (p.Ala407=) n.536G= c.*1089G= (n.*1089G=) c.471+289G= (n.471+289G=) c.559G= (p.Ala187=) | |
| 11 | g.1753514C>G | CA379092323 | CTSD | c.1228G>C (p.Ala410Pro) c.1123G>C (p.Ala375Pro) c.634+19G>C c.*394G>C (n.*394G>C) c.1345G>C (p.Ala449Pro) c.1071+289G>C (n.1071+289G>C) c.1207G>C (p.Ala403Pro) c.72+289G>C (n.72+289G>C) c.1222G>C (p.Ala408Pro) n.826G>C n.3656G>C c.1210G>C (p.Ala404Pro) c.1219G>C (p.Ala407Pro) n.536G>C c.*1089G>C (n.*1089G>C) c.471+289G>C (n.471+289G>C) c.559G>C (p.Ala187Pro) | ClinVar dbSNP |
| 11 | g.1753514C>T | CA379092324 | CTSD | c.1228G>A (p.Ala410Thr) c.1123G>A (p.Ala375Thr) c.634+19G>A c.*394G>A (n.*394G>A) c.1345G>A (p.Ala449Thr) c.1071+289G>A (n.1071+289G>A) c.1207G>A (p.Ala403Thr) c.72+289G>A (n.72+289G>A) c.1222G>A (p.Ala408Thr) n.826G>A n.3656G>A c.1210G>A (p.Ala404Thr) c.1219G>A (p.Ala407Thr) n.536G>A c.*1089G>A (n.*1089G>A) c.471+289G>A (n.471+289G>A) c.559G>A (p.Ala187Thr) | |
| 11 | g.1753515A>C | CA472139407 | CTSD | c.1227T>G (p.Ala409=) c.1122T>G (p.Ala374=) c.634+18T>G c.*393T>G (n.*393T>G) c.1344T>G (p.Ala448=) c.1071+288T>G (n.1071+288T>G) c.1206T>G (p.Ala402=) c.72+288T>G (n.72+288T>G) c.1221T>G (p.Ala407=) n.825T>G n.3655T>G c.1209T>G (p.Ala403=) c.1218T>G (p.Ala406=) n.535T>G c.*1088T>G (n.*1088T>G) c.471+288T>G (n.471+288T>G) c.558T>G (p.Ala186=) | |
| 11 | g.1753515A>G | CA472139404 | CTSD | c.1227T>C (p.Ala409=) c.1122T>C (p.Ala374=) c.634+18T>C c.*393T>C (n.*393T>C) c.1344T>C (p.Ala448=) c.1071+288T>C (n.1071+288T>C) c.1206T>C (p.Ala402=) c.72+288T>C (n.72+288T>C) c.1221T>C (p.Ala407=) n.825T>C n.3655T>C c.1209T>C (p.Ala403=) c.1218T>C (p.Ala406=) n.535T>C c.*1088T>C (n.*1088T>C) c.471+288T>C (n.471+288T>C) c.558T>C (p.Ala186=) | |
| 11 | g.1753515A>T | CA472139402 | CTSD | c.1227T>A (p.Ala409=) c.1122T>A (p.Ala374=) c.634+18T>A c.*393T>A (n.*393T>A) c.1344T>A (p.Ala448=) c.1071+288T>A (n.1071+288T>A) c.1206T>A (p.Ala402=) c.72+288T>A (n.72+288T>A) c.1221T>A (p.Ala407=) n.825T>A n.3655T>A c.1209T>A (p.Ala403=) c.1218T>A (p.Ala406=) n.535T>A c.*1088T>A (n.*1088T>A) c.471+288T>A (n.471+288T>A) c.558T>A (p.Ala186=) | |
| 11 | g.1753516G>A | CA379092326 | CTSD | c.1226C>T (p.Ala409Val) c.1121C>T (p.Ala374Val) c.634+17C>T c.*392C>T (n.*392C>T) c.1343C>T (p.Ala448Val) c.1071+287C>T (n.1071+287C>T) c.1205C>T (p.Ala402Val) c.72+287C>T (n.72+287C>T) c.1220C>T (p.Ala407Val) n.824C>T n.3654C>T c.1208C>T (p.Ala403Val) c.1217C>T (p.Ala406Val) n.534C>T c.*1087C>T (n.*1087C>T) c.471+287C>T (n.471+287C>T) c.557C>T (p.Ala186Val) | dbSNP |
| 11 | g.1753516G>C | CA379092327 | CTSD | c.1226C>G (p.Ala409Gly) c.1121C>G (p.Ala374Gly) c.634+17C>G c.*392C>G (n.*392C>G) c.1343C>G (p.Ala448Gly) c.1071+287C>G (n.1071+287C>G) c.1205C>G (p.Ala402Gly) c.72+287C>G (n.72+287C>G) c.1220C>G (p.Ala407Gly) n.824C>G n.3654C>G c.1208C>G (p.Ala403Gly) c.1217C>G (p.Ala406Gly) n.534C>G c.*1087C>G (n.*1087C>G) c.471+287C>G (n.471+287C>G) c.557C>G (p.Ala186Gly) | |
| 11 | g.1753516G= | CA1947825092 | CTSD | c.1226C= (p.Ala409=) c.1121C= (p.Ala374=) c.634+17C= c.*392C= (n.*392C=) c.1343C= (p.Ala448=) c.1071+287C= (n.1071+287C=) c.1205C= (p.Ala402=) c.72+287C= (n.72+287C=) c.1220C= (p.Ala407=) n.824C= n.3654C= c.1208C= (p.Ala403=) c.1217C= (p.Ala406=) n.534C= c.*1087C= (n.*1087C=) c.471+287C= (n.471+287C=) c.557C= (p.Ala186=) | |
| 11 | g.1753516G>T | CA379092325 | CTSD | c.1226C>A (p.Ala409Asp) c.1121C>A (p.Ala374Asp) c.634+17C>A c.*392C>A (n.*392C>A) c.1343C>A (p.Ala448Asp) c.1071+287C>A (n.1071+287C>A) c.1205C>A (p.Ala402Asp) c.72+287C>A (n.72+287C>A) c.1220C>A (p.Ala407Asp) n.824C>A n.3654C>A c.1208C>A (p.Ala403Asp) c.1217C>A (p.Ala406Asp) n.534C>A c.*1087C>A (n.*1087C>A) c.471+287C>A (n.471+287C>A) c.557C>A (p.Ala186Asp) | |
| 11 | g.1753517C>A | CA379092330 | CTSD | c.1225G>T (p.Ala409Ser) c.1120G>T (p.Ala374Ser) c.634+16G>T c.*391G>T (n.*391G>T) c.1342G>T (p.Ala448Ser) c.1071+286G>T (n.1071+286G>T) c.1204G>T (p.Ala402Ser) c.72+286G>T (n.72+286G>T) c.1219G>T (p.Ala407Ser) n.823G>T n.3653G>T c.1207G>T (p.Ala403Ser) c.1216G>T (p.Ala406Ser) n.533G>T c.*1086G>T (n.*1086G>T) c.471+286G>T (n.471+286G>T) c.556G>T (p.Ala186Ser) | |
| 11 | g.1753517C>G | CA379092328 | CTSD | c.1225G>C (p.Ala409Pro) c.1120G>C (p.Ala374Pro) c.634+16G>C c.*391G>C (n.*391G>C) c.1342G>C (p.Ala448Pro) c.1071+286G>C (n.1071+286G>C) c.1204G>C (p.Ala402Pro) c.72+286G>C (n.72+286G>C) c.1219G>C (p.Ala407Pro) n.823G>C n.3653G>C c.1207G>C (p.Ala403Pro) c.1216G>C (p.Ala406Pro) n.533G>C c.*1086G>C (n.*1086G>C) c.471+286G>C (n.471+286G>C) c.556G>C (p.Ala186Pro) | |
| 11 | g.1753517C>T | CA379092329 | CTSD | c.1225G>A (p.Ala409Thr) c.1120G>A (p.Ala374Thr) c.634+16G>A c.*391G>A (n.*391G>A) c.1342G>A (p.Ala448Thr) c.1071+286G>A (n.1071+286G>A) c.1204G>A (p.Ala402Thr) c.72+286G>A (n.72+286G>A) c.1219G>A (p.Ala407Thr) n.823G>A n.3653G>A c.1207G>A (p.Ala403Thr) c.1216G>A (p.Ala406Thr) n.533G>A c.*1086G>A (n.*1086G>A) c.471+286G>A (n.471+286G>A) c.556G>A (p.Ala186Thr) | gnomAD v4 |
| 11 | g.1753518C>A | CA379092331 | CTSD | c.1224G>T (p.Glu408Asp) c.1119G>T (p.Glu373Asp) c.634+15G>T c.*390G>T (n.*390G>T) c.1341G>T (p.Glu447Asp) c.1071+285G>T (n.1071+285G>T) c.1203G>T (p.Glu401Asp) c.72+285G>T (n.72+285G>T) c.1218G>T (p.Glu406Asp) n.822G>T n.3652G>T c.1206G>T (p.Glu402Asp) c.1215G>T (p.Glu405Asp) n.532G>T c.*1085G>T (n.*1085G>T) c.471+285G>T (n.471+285G>T) c.555G>T (p.Glu185Asp) | |
| 11 | g.1753518C>G | CA379092332 | CTSD | c.1224G>C (p.Glu408Asp) c.1119G>C (p.Glu373Asp) c.634+15G>C c.*390G>C (n.*390G>C) c.1341G>C (p.Glu447Asp) c.1071+285G>C (n.1071+285G>C) c.1203G>C (p.Glu401Asp) c.72+285G>C (n.72+285G>C) c.1218G>C (p.Glu406Asp) n.822G>C n.3652G>C c.1206G>C (p.Glu402Asp) c.1215G>C (p.Glu405Asp) n.532G>C c.*1085G>C (n.*1085G>C) c.471+285G>C (n.471+285G>C) c.555G>C (p.Glu185Asp) | |
| 11 | g.1753518C>T | CA472139437 | CTSD | c.1224G>A (p.Glu408=) c.1119G>A (p.Glu373=) c.634+15G>A c.*390G>A (n.*390G>A) c.1341G>A (p.Glu447=) c.1071+285G>A (n.1071+285G>A) c.1203G>A (p.Glu401=) c.72+285G>A (n.72+285G>A) c.1218G>A (p.Glu406=) n.822G>A n.3652G>A c.1206G>A (p.Glu402=) c.1215G>A (p.Glu405=) n.532G>A c.*1085G>A (n.*1085G>A) c.471+285G>A (n.471+285G>A) c.555G>A (p.Glu185=) | |
| 11 | g.1753519T>A | CA379092333 | CTSD | c.1223A>T (p.Glu408Val) c.1118A>T (p.Glu373Val) c.634+14A>T c.*389A>T (n.*389A>T) c.1340A>T (p.Glu447Val) c.1071+284A>T (n.1071+284A>T) c.1202A>T (p.Glu401Val) c.72+284A>T (n.72+284A>T) c.1217A>T (p.Glu406Val) n.821A>T n.3651A>T c.1205A>T (p.Glu402Val) c.1214A>T (p.Glu405Val) n.531A>T c.*1084A>T (n.*1084A>T) c.471+284A>T (n.471+284A>T) c.554A>T (p.Glu185Val) | |
| 11 | g.1753519T>C | CA379092334 | CTSD | c.1223A>G (p.Glu408Gly) c.1118A>G (p.Glu373Gly) c.634+14A>G c.*389A>G (n.*389A>G) c.1340A>G (p.Glu447Gly) c.1071+284A>G (n.1071+284A>G) c.1202A>G (p.Glu401Gly) c.72+284A>G (n.72+284A>G) c.1217A>G (p.Glu406Gly) n.821A>G n.3651A>G c.1205A>G (p.Glu402Gly) c.1214A>G (p.Glu405Gly) n.531A>G c.*1084A>G (n.*1084A>G) c.471+284A>G (n.471+284A>G) c.554A>G (p.Glu185Gly) | dbSNP |
| 11 | g.1753519T>G | CA379092335 | CTSD | c.1223A>C (p.Glu408Ala) c.1118A>C (p.Glu373Ala) c.634+14A>C c.*389A>C (n.*389A>C) c.1340A>C (p.Glu447Ala) c.1071+284A>C (n.1071+284A>C) c.1202A>C (p.Glu401Ala) c.72+284A>C (n.72+284A>C) c.1217A>C (p.Glu406Ala) n.821A>C n.3651A>C c.1205A>C (p.Glu402Ala) c.1214A>C (p.Glu405Ala) n.531A>C c.*1084A>C (n.*1084A>C) c.471+284A>C (n.471+284A>C) c.554A>C (p.Glu185Ala) | |
| 11 | g.1753519T= | CA1947825093 | CTSD | c.1223A= (p.Glu408=) c.1118A= (p.Glu373=) c.634+14A= c.*389A= (n.*389A=) c.1340A= (p.Glu447=) c.1071+284A= (n.1071+284A=) c.1202A= (p.Glu401=) c.72+284A= (n.72+284A=) c.1217A= (p.Glu406=) n.821A= n.3651A= c.1205A= (p.Glu402=) c.1214A= (p.Glu405=) n.531A= c.*1084A= (n.*1084A=) c.471+284A= (n.471+284A=) c.554A= (p.Glu185=) | |
| 11 | g.1753520C>A | CA379092336 | CTSD | c.1222G>T (p.Glu408Ter) c.1117G>T (p.Glu373Ter) c.634+13G>T c.*388G>T (n.*388G>T) c.1339G>T (p.Glu447Ter) c.1071+283G>T (n.1071+283G>T) c.1201G>T (p.Glu401Ter) c.72+283G>T (n.72+283G>T) c.1216G>T (p.Glu406Ter) n.820G>T n.3650G>T c.1204G>T (p.Glu402Ter) c.1213G>T (p.Glu405Ter) n.530G>T c.*1083G>T (n.*1083G>T) c.471+283G>T (n.471+283G>T) c.553G>T (p.Glu185Ter) | |
| 11 | g.1753520C= | CA1947825094 | CTSD | c.1222G= (p.Glu408=) c.1117G= (p.Glu373=) c.634+13G= c.*388G= (n.*388G=) c.1339G= (p.Glu447=) c.1071+283G= (n.1071+283G=) c.1201G= (p.Glu401=) c.72+283G= (n.72+283G=) c.1216G= (p.Glu406=) n.820G= n.3650G= c.1204G= (p.Glu402=) c.1213G= (p.Glu405=) n.530G= c.*1083G= (n.*1083G=) c.471+283G= (n.471+283G=) c.553G= (p.Glu185=) | |
| 11 | g.1753520C>G | CA5813869 | CTSD | c.1222G>C (p.Glu408Gln) c.1117G>C (p.Glu373Gln) c.634+13G>C c.*388G>C (n.*388G>C) c.1339G>C (p.Glu447Gln) c.1071+283G>C (n.1071+283G>C) c.1201G>C (p.Glu401Gln) c.72+283G>C (n.72+283G>C) c.1216G>C (p.Glu406Gln) n.820G>C n.3650G>C c.1204G>C (p.Glu402Gln) c.1213G>C (p.Glu405Gln) n.530G>C c.*1083G>C (n.*1083G>C) c.471+283G>C (n.471+283G>C) c.553G>C (p.Glu185Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753520C>T | CA5813868 | CTSD | c.1222G>A (p.Glu408Lys) c.1117G>A (p.Glu373Lys) c.634+13G>A c.*388G>A (n.*388G>A) c.1339G>A (p.Glu447Lys) c.1071+283G>A (n.1071+283G>A) c.1201G>A (p.Glu401Lys) c.72+283G>A (n.72+283G>A) c.1216G>A (p.Glu406Lys) n.820G>A n.3650G>A c.1204G>A (p.Glu402Lys) c.1213G>A (p.Glu405Lys) n.530G>A c.*1083G>A (n.*1083G>A) c.471+283G>A (n.471+283G>A) c.553G>A (p.Glu185Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753521G>A | CA472139468 | CTSD | c.1221C>T (p.Ala407=) c.1116C>T (p.Ala372=) c.634+12C>T c.*387C>T (n.*387C>T) c.1338C>T (p.Ala446=) c.1071+282C>T (n.1071+282C>T) c.1200C>T (p.Ala400=) c.72+282C>T (n.72+282C>T) c.1215C>T (p.Ala405=) n.819C>T n.3649C>T c.1203C>T (p.Ala401=) c.1212C>T (p.Ala404=) n.529C>T c.*1082C>T (n.*1082C>T) c.471+282C>T (n.471+282C>T) c.552C>T (p.Ala184=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753521G>C | CA472139470 | CTSD | c.1221C>G (p.Ala407=) c.1116C>G (p.Ala372=) c.634+12C>G c.*387C>G (n.*387C>G) c.1338C>G (p.Ala446=) c.1071+282C>G (n.1071+282C>G) c.1200C>G (p.Ala400=) c.72+282C>G (n.72+282C>G) c.1215C>G (p.Ala405=) n.819C>G n.3649C>G c.1203C>G (p.Ala401=) c.1212C>G (p.Ala404=) n.529C>G c.*1082C>G (n.*1082C>G) c.471+282C>G (n.471+282C>G) c.552C>G (p.Ala184=) | |
| 11 | g.1753521G= | CA1947825095 | CTSD | c.1221C= (p.Ala407=) c.1116C= (p.Ala372=) c.634+12C= c.*387C= (n.*387C=) c.1338C= (p.Ala446=) c.1071+282C= (n.1071+282C=) c.1200C= (p.Ala400=) c.72+282C= (n.72+282C=) c.1215C= (p.Ala405=) n.819C= n.3649C= c.1203C= (p.Ala401=) c.1212C= (p.Ala404=) n.529C= c.*1082C= (n.*1082C=) c.471+282C= (n.471+282C=) c.552C= (p.Ala184=) | |
| 11 | g.1753521G>T | CA472139481 | CTSD | c.1221C>A (p.Ala407=) c.1116C>A (p.Ala372=) c.634+12C>A c.*387C>A (n.*387C>A) c.1338C>A (p.Ala446=) c.1071+282C>A (n.1071+282C>A) c.1200C>A (p.Ala400=) c.72+282C>A (n.72+282C>A) c.1215C>A (p.Ala405=) n.819C>A n.3649C>A c.1203C>A (p.Ala401=) c.1212C>A (p.Ala404=) n.529C>A c.*1082C>A (n.*1082C>A) c.471+282C>A (n.471+282C>A) c.552C>A (p.Ala184=) | dbSNP gnomAD v4 |
| 11 | g.1753522G>A | CA5813870 | CTSD | c.1220C>T (p.Ala407Val) c.1115C>T (p.Ala372Val) c.634+11C>T c.*386C>T (n.*386C>T) c.1337C>T (p.Ala446Val) c.1071+281C>T (n.1071+281C>T) c.1199C>T (p.Ala400Val) c.72+281C>T (n.72+281C>T) c.1214C>T (p.Ala405Val) n.818C>T n.3648C>T c.1202C>T (p.Ala401Val) c.1211C>T (p.Ala404Val) n.528C>T c.*1081C>T (n.*1081C>T) c.471+281C>T (n.471+281C>T) c.551C>T (p.Ala184Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753522G>C | CA379092337 | CTSD | c.1220C>G (p.Ala407Gly) c.1115C>G (p.Ala372Gly) c.634+11C>G c.*386C>G (n.*386C>G) c.1337C>G (p.Ala446Gly) c.1071+281C>G (n.1071+281C>G) c.1199C>G (p.Ala400Gly) c.72+281C>G (n.72+281C>G) c.1214C>G (p.Ala405Gly) n.818C>G n.3648C>G c.1202C>G (p.Ala401Gly) c.1211C>G (p.Ala404Gly) n.528C>G c.*1081C>G (n.*1081C>G) c.471+281C>G (n.471+281C>G) c.551C>G (p.Ala184Gly) | |
| 11 | g.1753522G= | CA1947825096 | CTSD | c.1220C= (p.Ala407=) c.1115C= (p.Ala372=) c.634+11C= c.*386C= (n.*386C=) c.1337C= (p.Ala446=) c.1071+281C= (n.1071+281C=) c.1199C= (p.Ala400=) c.72+281C= (n.72+281C=) c.1214C= (p.Ala405=) n.818C= n.3648C= c.1202C= (p.Ala401=) c.1211C= (p.Ala404=) n.528C= c.*1081C= (n.*1081C=) c.471+281C= (n.471+281C=) c.551C= (p.Ala184=) | |
| 11 | g.1753522G>T | CA379092338 | CTSD | c.1220C>A (p.Ala407Asp) c.1115C>A (p.Ala372Asp) c.634+11C>A c.*386C>A (n.*386C>A) c.1337C>A (p.Ala446Asp) c.1071+281C>A (n.1071+281C>A) c.1199C>A (p.Ala400Asp) c.72+281C>A (n.72+281C>A) c.1214C>A (p.Ala405Asp) n.818C>A n.3648C>A c.1202C>A (p.Ala401Asp) c.1211C>A (p.Ala404Asp) n.528C>A c.*1081C>A (n.*1081C>A) c.471+281C>A (n.471+281C>A) c.551C>A (p.Ala184Asp) | |
| 11 | g.1753523C>A | CA379092340 | CTSD | c.1219G>T (p.Ala407Ser) c.1114G>T (p.Ala372Ser) c.634+10G>T c.*385G>T (n.*385G>T) c.1336G>T (p.Ala446Ser) c.1071+280G>T (n.1071+280G>T) c.1198G>T (p.Ala400Ser) c.72+280G>T (n.72+280G>T) c.1213G>T (p.Ala405Ser) n.817G>T n.3647G>T c.1201G>T (p.Ala401Ser) c.1210G>T (p.Ala404Ser) n.527G>T c.*1080G>T (n.*1080G>T) c.471+280G>T (n.471+280G>T) c.550G>T (p.Ala184Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753523C= | CA1947825097 | CTSD | c.1219G= (p.Ala407=) c.1114G= (p.Ala372=) c.634+10G= c.*385G= (n.*385G=) c.1336G= (p.Ala446=) c.1071+280G= (n.1071+280G=) c.1198G= (p.Ala400=) c.72+280G= (n.72+280G=) c.1213G= (p.Ala405=) n.817G= n.3647G= c.1201G= (p.Ala401=) c.1210G= (p.Ala404=) n.527G= c.*1080G= (n.*1080G=) c.471+280G= (n.471+280G=) c.550G= (p.Ala184=) | |
| 11 | g.1753523C>G | CA379092339 | CTSD | c.1219G>C (p.Ala407Pro) c.1114G>C (p.Ala372Pro) c.634+10G>C c.*385G>C (n.*385G>C) c.1336G>C (p.Ala446Pro) c.1071+280G>C (n.1071+280G>C) c.1198G>C (p.Ala400Pro) c.72+280G>C (n.72+280G>C) c.1213G>C (p.Ala405Pro) n.817G>C n.3647G>C c.1201G>C (p.Ala401Pro) c.1210G>C (p.Ala404Pro) n.527G>C c.*1080G>C (n.*1080G>C) c.471+280G>C (n.471+280G>C) c.550G>C (p.Ala184Pro) | |
| 11 | g.1753523C>T | CA5813871 | CTSD | c.1219G>A (p.Ala407Thr) c.1114G>A (p.Ala372Thr) c.634+10G>A c.*385G>A (n.*385G>A) c.1336G>A (p.Ala446Thr) c.1071+280G>A (n.1071+280G>A) c.1198G>A (p.Ala400Thr) c.72+280G>A (n.72+280G>A) c.1213G>A (p.Ala405Thr) n.817G>A n.3647G>A c.1201G>A (p.Ala401Thr) c.1210G>A (p.Ala404Thr) n.527G>A c.*1080G>A (n.*1080G>A) c.471+280G>A (n.471+280G>A) c.550G>A (p.Ala184Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753524G>A | CA5813872 | CTSD | c.1218C>T (p.Phe406=) c.1113C>T (p.Phe371=) c.634+9C>T c.*384C>T (n.*384C>T) c.1335C>T (p.Phe445=) c.1071+279C>T (n.1071+279C>T) c.1197C>T (p.Phe399=) c.72+279C>T (n.72+279C>T) c.1212C>T (p.Phe404=) n.816C>T n.3646C>T c.1200C>T (p.Phe400=) c.1209C>T (p.Phe403=) n.526C>T c.*1079C>T (n.*1079C>T) c.471+279C>T (n.471+279C>T) c.549C>T (p.Phe183=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1753524G>C | CA379092341 | CTSD | c.1218C>G (p.Phe406Leu) c.1113C>G (p.Phe371Leu) c.634+9C>G c.*384C>G (n.*384C>G) c.1335C>G (p.Phe445Leu) c.1071+279C>G (n.1071+279C>G) c.1197C>G (p.Phe399Leu) c.72+279C>G (n.72+279C>G) c.1212C>G (p.Phe404Leu) n.816C>G n.3646C>G c.1200C>G (p.Phe400Leu) c.1209C>G (p.Phe403Leu) n.526C>G c.*1079C>G (n.*1079C>G) c.471+279C>G (n.471+279C>G) c.549C>G (p.Phe183Leu) | |
| 11 | g.1753524G= | CA1947825098 | CTSD | c.1218C= (p.Phe406=) c.1113C= (p.Phe371=) c.634+9C= c.*384C= (n.*384C=) c.1335C= (p.Phe445=) c.1071+279C= (n.1071+279C=) c.1197C= (p.Phe399=) c.72+279C= (n.72+279C=) c.1212C= (p.Phe404=) n.816C= n.3646C= c.1200C= (p.Phe400=) c.1209C= (p.Phe403=) n.526C= c.*1079C= (n.*1079C=) c.471+279C= (n.471+279C=) c.549C= (p.Phe183=) | |
| 11 | g.1753524G>T | CA5813873 | CTSD | c.1218C>A (p.Phe406Leu) c.1113C>A (p.Phe371Leu) c.634+9C>A c.*384C>A (n.*384C>A) c.1335C>A (p.Phe445Leu) c.1071+279C>A (n.1071+279C>A) c.1197C>A (p.Phe399Leu) c.72+279C>A (n.72+279C>A) c.1212C>A (p.Phe404Leu) n.816C>A n.3646C>A c.1200C>A (p.Phe400Leu) c.1209C>A (p.Phe403Leu) n.526C>A c.*1079C>A (n.*1079C>A) c.471+279C>A (n.471+279C>A) c.549C>A (p.Phe183Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753525A>C | CA379092342 | CTSD | c.1217T>G (p.Phe406Cys) c.1112T>G (p.Phe371Cys) c.634+8T>G c.*383T>G (n.*383T>G) c.1334T>G (p.Phe445Cys) c.1071+278T>G (n.1071+278T>G) c.1196T>G (p.Phe399Cys) c.72+278T>G (n.72+278T>G) c.1211T>G (p.Phe404Cys) n.815T>G n.3645T>G c.1199T>G (p.Phe400Cys) c.1208T>G (p.Phe403Cys) n.525T>G c.*1078T>G (n.*1078T>G) c.471+278T>G (n.471+278T>G) c.548T>G (p.Phe183Cys) | |
| 11 | g.1753525A>G | CA379092343 | CTSD | c.1217T>C (p.Phe406Ser) c.1112T>C (p.Phe371Ser) c.634+8T>C c.*383T>C (n.*383T>C) c.1334T>C (p.Phe445Ser) c.1071+278T>C (n.1071+278T>C) c.1196T>C (p.Phe399Ser) c.72+278T>C (n.72+278T>C) c.1211T>C (p.Phe404Ser) n.815T>C n.3645T>C c.1199T>C (p.Phe400Ser) c.1208T>C (p.Phe403Ser) n.525T>C c.*1078T>C (n.*1078T>C) c.471+278T>C (n.471+278T>C) c.548T>C (p.Phe183Ser) | |
| 11 | g.1753525A>T | CA379092344 | CTSD | c.1217T>A (p.Phe406Tyr) c.1112T>A (p.Phe371Tyr) c.634+8T>A c.*383T>A (n.*383T>A) c.1334T>A (p.Phe445Tyr) c.1071+278T>A (n.1071+278T>A) c.1196T>A (p.Phe399Tyr) c.72+278T>A (n.72+278T>A) c.1211T>A (p.Phe404Tyr) n.815T>A n.3645T>A c.1199T>A (p.Phe400Tyr) c.1208T>A (p.Phe403Tyr) n.525T>A c.*1078T>A (n.*1078T>A) c.471+278T>A (n.471+278T>A) c.548T>A (p.Phe183Tyr) | |
| 11 | g.1753526A>C | CA379092345 | CTSD | c.1216T>G (p.Phe406Val) c.1111T>G (p.Phe371Val) c.634+7T>G c.*382T>G (n.*382T>G) c.1333T>G (p.Phe445Val) c.1071+277T>G (n.1071+277T>G) c.1195T>G (p.Phe399Val) c.72+277T>G (n.72+277T>G) c.1210T>G (p.Phe404Val) n.814T>G n.3644T>G c.1198T>G (p.Phe400Val) c.1207T>G (p.Phe403Val) n.524T>G c.*1077T>G (n.*1077T>G) c.471+277T>G (n.471+277T>G) c.547T>G (p.Phe183Val) | |
| 11 | g.1753526A>G | CA379092346 | CTSD | c.1216T>C (p.Phe406Leu) c.1111T>C (p.Phe371Leu) c.634+7T>C c.*382T>C (n.*382T>C) c.1333T>C (p.Phe445Leu) c.1071+277T>C (n.1071+277T>C) c.1195T>C (p.Phe399Leu) c.72+277T>C (n.72+277T>C) c.1210T>C (p.Phe404Leu) n.814T>C n.3644T>C c.1198T>C (p.Phe400Leu) c.1207T>C (p.Phe403Leu) n.524T>C c.*1077T>C (n.*1077T>C) c.471+277T>C (n.471+277T>C) c.547T>C (p.Phe183Leu) | |
| 11 | g.1753526A>T | CA379092347 | CTSD | c.1216T>A (p.Phe406Ile) c.1111T>A (p.Phe371Ile) c.634+7T>A c.*382T>A (n.*382T>A) c.1333T>A (p.Phe445Ile) c.1071+277T>A (n.1071+277T>A) c.1195T>A (p.Phe399Ile) c.72+277T>A (n.72+277T>A) c.1210T>A (p.Phe404Ile) n.814T>A n.3644T>A c.1198T>A (p.Phe400Ile) c.1207T>A (p.Phe403Ile) n.524T>A c.*1077T>A (n.*1077T>A) c.471+277T>A (n.471+277T>A) c.547T>A (p.Phe183Ile) | |
| 11 | g.1753527G>A | CA472139532 | CTSD | c.1215C>T (p.Gly405=) c.1110C>T (p.Gly370=) c.634+6C>T c.*381C>T (n.*381C>T) c.1332C>T (p.Gly444=) c.1071+276C>T (n.1071+276C>T) c.1194C>T (p.Gly398=) c.72+276C>T (n.72+276C>T) c.1209C>T (p.Gly403=) n.813C>T n.3643C>T c.1197C>T (p.Gly399=) c.1206C>T (p.Gly402=) n.523C>T c.*1076C>T (n.*1076C>T) c.471+276C>T (n.471+276C>T) c.546C>T (p.Gly182=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753527G>C | CA472139534 | CTSD | c.1215C>G (p.Gly405=) c.1110C>G (p.Gly370=) c.634+6C>G c.*381C>G (n.*381C>G) c.1332C>G (p.Gly444=) c.1071+276C>G (n.1071+276C>G) c.1194C>G (p.Gly398=) c.72+276C>G (n.72+276C>G) c.1209C>G (p.Gly403=) n.813C>G n.3643C>G c.1197C>G (p.Gly399=) c.1206C>G (p.Gly402=) n.523C>G c.*1076C>G (n.*1076C>G) c.471+276C>G (n.471+276C>G) c.546C>G (p.Gly182=) | |
| 11 | g.1753527G= | CA1947825099 | CTSD | c.1215C= (p.Gly405=) c.1110C= (p.Gly370=) c.634+6C= c.*381C= (n.*381C=) c.1332C= (p.Gly444=) c.1071+276C= (n.1071+276C=) c.1194C= (p.Gly398=) c.72+276C= (n.72+276C=) c.1209C= (p.Gly403=) n.813C= n.3643C= c.1197C= (p.Gly399=) c.1206C= (p.Gly402=) n.523C= c.*1076C= (n.*1076C=) c.471+276C= (n.471+276C=) c.546C= (p.Gly182=) | |
| 11 | g.1753527G>T | CA152535 | CTSD | c.1215C>A (p.Gly405=) c.1110C>A (p.Gly370=) c.634+6C>A c.*381C>A (n.*381C>A) c.1332C>A (p.Gly444=) c.1071+276C>A (n.1071+276C>A) c.1194C>A (p.Gly398=) c.72+276C>A (n.72+276C>A) c.1209C>A (p.Gly403=) n.813C>A n.3643C>A c.1197C>A (p.Gly399=) c.1206C>A (p.Gly402=) n.523C>A c.*1076C>A (n.*1076C>A) c.471+276C>A (n.471+276C>A) c.546C>A (p.Gly182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753528C>A | CA379092348 | CTSD | c.1214G>T (p.Gly405Val) c.1109G>T (p.Gly370Val) c.634+5G>T c.*380G>T (n.*380G>T) c.1331G>T (p.Gly444Val) c.1071+275G>T (n.1071+275G>T) c.1193G>T (p.Gly398Val) c.72+275G>T (n.72+275G>T) c.1208G>T (p.Gly403Val) n.812G>T n.3642G>T c.1196G>T (p.Gly399Val) c.1205G>T (p.Gly402Val) n.522G>T c.*1075G>T (n.*1075G>T) c.471+275G>T (n.471+275G>T) c.545G>T (p.Gly182Val) | |
| 11 | g.1753528C= | CA1947825100 | CTSD | c.1214G= (p.Gly405=) c.1109G= (p.Gly370=) c.634+5G= c.*380G= (n.*380G=) c.1331G= (p.Gly444=) c.1071+275G= (n.1071+275G=) c.1193G= (p.Gly398=) c.72+275G= (n.72+275G=) c.1208G= (p.Gly403=) n.812G= n.3642G= c.1196G= (p.Gly399=) c.1205G= (p.Gly402=) n.522G= c.*1075G= (n.*1075G=) c.471+275G= (n.471+275G=) c.545G= (p.Gly182=) | |
| 11 | g.1753528C>G | CA379092349 | CTSD | c.1214G>C (p.Gly405Ala) c.1109G>C (p.Gly370Ala) c.634+5G>C c.*380G>C (n.*380G>C) c.1331G>C (p.Gly444Ala) c.1071+275G>C (n.1071+275G>C) c.1193G>C (p.Gly398Ala) c.72+275G>C (n.72+275G>C) c.1208G>C (p.Gly403Ala) n.812G>C n.3642G>C c.1196G>C (p.Gly399Ala) c.1205G>C (p.Gly402Ala) n.522G>C c.*1075G>C (n.*1075G>C) c.471+275G>C (n.471+275G>C) c.545G>C (p.Gly182Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1753528C>T | CA379092350 | CTSD | c.1214G>A (p.Gly405Asp) c.1109G>A (p.Gly370Asp) c.634+5G>A c.*380G>A (n.*380G>A) c.1331G>A (p.Gly444Asp) c.1071+275G>A (n.1071+275G>A) c.1193G>A (p.Gly398Asp) c.72+275G>A (n.72+275G>A) c.1208G>A (p.Gly403Asp) n.812G>A n.3642G>A c.1196G>A (p.Gly399Asp) c.1205G>A (p.Gly402Asp) n.522G>A c.*1075G>A (n.*1075G>A) c.471+275G>A (n.471+275G>A) c.545G>A (p.Gly182Asp) | gnomAD v4 |
| 11 | g.1753529C>A | CA379092352 | CTSD | c.1213G>T (p.Gly405Cys) c.1108G>T (p.Gly370Cys) c.634+4G>T c.*379G>T (n.*379G>T) c.1330G>T (p.Gly444Cys) c.1071+274G>T (n.1071+274G>T) c.1192G>T (p.Gly398Cys) c.72+274G>T (n.72+274G>T) c.1207G>T (p.Gly403Cys) n.811G>T n.3641G>T c.1195G>T (p.Gly399Cys) c.1204G>T (p.Gly402Cys) n.521G>T c.*1074G>T (n.*1074G>T) c.471+274G>T (n.471+274G>T) c.544G>T (p.Gly182Cys) | gnomAD v4 |
| 11 | g.1753529C>G | CA379092353 | CTSD | c.1213G>C (p.Gly405Arg) c.1108G>C (p.Gly370Arg) c.634+4G>C c.*379G>C (n.*379G>C) c.1330G>C (p.Gly444Arg) c.1071+274G>C (n.1071+274G>C) c.1192G>C (p.Gly398Arg) c.72+274G>C (n.72+274G>C) c.1207G>C (p.Gly403Arg) n.811G>C n.3641G>C c.1195G>C (p.Gly399Arg) c.1204G>C (p.Gly402Arg) n.521G>C c.*1074G>C (n.*1074G>C) c.471+274G>C (n.471+274G>C) c.544G>C (p.Gly182Arg) | |
| 11 | g.1753529C>T | CA379092351 | CTSD | c.1213G>A (p.Gly405Ser) c.1108G>A (p.Gly370Ser) c.634+4G>A c.*379G>A (n.*379G>A) c.1330G>A (p.Gly444Ser) c.1071+274G>A (n.1071+274G>A) c.1192G>A (p.Gly398Ser) c.72+274G>A (n.72+274G>A) c.1207G>A (p.Gly403Ser) n.811G>A n.3641G>A c.1195G>A (p.Gly399Ser) c.1204G>A (p.Gly402Ser) n.521G>A c.*1074G>A (n.*1074G>A) c.471+274G>A (n.471+274G>A) c.544G>A (p.Gly182Ser) | ClinVar |
| 11 | g.1753530C>A | CA472139551 | CTSD | c.1212G>T (p.Val404=) c.1107G>T (p.Val369=) c.634+3G>T c.*378G>T (n.*378G>T) c.1329G>T (p.Val443=) c.1071+273G>T (n.1071+273G>T) c.1191G>T (p.Val397=) c.72+273G>T (n.72+273G>T) c.1206G>T (p.Val402=) n.810G>T n.3640G>T c.1194G>T (p.Val398=) c.1203G>T (p.Val401=) n.520G>T c.*1073G>T (n.*1073G>T) c.471+273G>T (n.471+273G>T) c.543G>T (p.Val181=) | |
| 11 | g.1753530C>G | CA472139550 | CTSD | c.1212G>C (p.Val404=) c.1107G>C (p.Val369=) c.634+3G>C c.*378G>C (n.*378G>C) c.1329G>C (p.Val443=) c.1071+273G>C (n.1071+273G>C) c.1191G>C (p.Val397=) c.72+273G>C (n.72+273G>C) c.1206G>C (p.Val402=) n.810G>C n.3640G>C c.1194G>C (p.Val398=) c.1203G>C (p.Val401=) n.520G>C c.*1073G>C (n.*1073G>C) c.471+273G>C (n.471+273G>C) c.543G>C (p.Val181=) | |
| 11 | g.1753530C>T | CA472139553 | CTSD | c.1212G>A (p.Val404=) c.1107G>A (p.Val369=) c.634+3G>A c.*378G>A (n.*378G>A) c.1329G>A (p.Val443=) c.1071+273G>A (n.1071+273G>A) c.1191G>A (p.Val397=) c.72+273G>A (n.72+273G>A) c.1206G>A (p.Val402=) n.810G>A n.3640G>A c.1194G>A (p.Val398=) c.1203G>A (p.Val401=) n.520G>A c.*1073G>A (n.*1073G>A) c.471+273G>A (n.471+273G>A) c.543G>A (p.Val181=) | gnomAD v4 |
| 11 | g.1753531A= | CA1947825101 | CTSD | c.1211T= (p.Val404=) c.1106T= (p.Val369=) c.634+2T= c.*377T= (n.*377T=) c.1328T= (p.Val443=) c.1071+272T= (n.1071+272T=) c.1190T= (p.Val397=) c.72+272T= (n.72+272T=) c.1205T= (p.Val402=) n.809T= n.3639T= c.1193T= (p.Val398=) c.1202T= (p.Val401=) n.519T= c.*1072T= (n.*1072T=) c.471+272T= (n.471+272T=) c.542T= (p.Val181=) | |
| 11 | g.1753531A>C | CA314336 | CTSD | c.1211T>G (p.Val404Gly) c.1106T>G (p.Val369Gly) c.634+2T>G c.*377T>G (n.*377T>G) c.1328T>G (p.Val443Gly) c.1071+272T>G (n.1071+272T>G) c.1190T>G (p.Val397Gly) c.72+272T>G (n.72+272T>G) c.1205T>G (p.Val402Gly) n.809T>G n.3639T>G c.1193T>G (p.Val398Gly) c.1202T>G (p.Val401Gly) n.519T>G c.*1072T>G (n.*1072T>G) c.471+272T>G (n.471+272T>G) c.542T>G (p.Val181Gly) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1753531A>G | CA379092354 | CTSD | c.1211T>C (p.Val404Ala) c.1106T>C (p.Val369Ala) c.634+2T>C c.*377T>C (n.*377T>C) c.1328T>C (p.Val443Ala) c.1071+272T>C (n.1071+272T>C) c.1190T>C (p.Val397Ala) c.72+272T>C (n.72+272T>C) c.1205T>C (p.Val402Ala) n.809T>C n.3639T>C c.1193T>C (p.Val398Ala) c.1202T>C (p.Val401Ala) n.519T>C c.*1072T>C (n.*1072T>C) c.471+272T>C (n.471+272T>C) c.542T>C (p.Val181Ala) | |
| 11 | g.1753531A>T | CA379092356 | CTSD | c.1211T>A (p.Val404Glu) c.1106T>A (p.Val369Glu) c.634+2T>A c.*377T>A (n.*377T>A) c.1328T>A (p.Val443Glu) c.1071+272T>A (n.1071+272T>A) c.1190T>A (p.Val397Glu) c.72+272T>A (n.72+272T>A) c.1205T>A (p.Val402Glu) n.809T>A n.3639T>A c.1193T>A (p.Val398Glu) c.1202T>A (p.Val401Glu) n.519T>A c.*1072T>A (n.*1072T>A) c.471+272T>A (n.471+272T>A) c.542T>A (p.Val181Glu) | |
| 11 | g.1753532C>A | CA379092357 | CTSD | c.1210G>T (p.Val404Leu) c.1105G>T (p.Val369Leu) c.634+1G>T c.*376G>T (n.*376G>T) c.1327G>T (p.Val443Leu) c.1071+271G>T (n.1071+271G>T) c.1189G>T (p.Val397Leu) c.72+271G>T (n.72+271G>T) c.1204G>T (p.Val402Leu) n.808G>T n.3638G>T c.1192G>T (p.Val398Leu) c.1201G>T (p.Val401Leu) n.518G>T c.*1071G>T (n.*1071G>T) c.471+271G>T (n.471+271G>T) c.541G>T (p.Val181Leu) | ClinVar dbSNP |
| 11 | g.1753532C= | CA1947825102 | CTSD | c.1210G= (p.Val404=) c.1105G= (p.Val369=) c.634+1G= c.*376G= (n.*376G=) c.1327G= (p.Val443=) c.1071+271G= (n.1071+271G=) c.1189G= (p.Val397=) c.72+271G= (n.72+271G=) c.1204G= (p.Val402=) n.808G= n.3638G= c.1192G= (p.Val398=) c.1201G= (p.Val401=) n.518G= c.*1071G= (n.*1071G=) c.471+271G= (n.471+271G=) c.541G= (p.Val181=) | |
| 11 | g.1753532C>G | CA379092358 | CTSD | c.1210G>C (p.Val404Leu) c.1105G>C (p.Val369Leu) c.634+1G>C c.*376G>C (n.*376G>C) c.1327G>C (p.Val443Leu) c.1071+271G>C (n.1071+271G>C) c.1189G>C (p.Val397Leu) c.72+271G>C (n.72+271G>C) c.1204G>C (p.Val402Leu) n.808G>C n.3638G>C c.1192G>C (p.Val398Leu) c.1201G>C (p.Val401Leu) n.518G>C c.*1071G>C (n.*1071G>C) c.471+271G>C (n.471+271G>C) c.541G>C (p.Val181Leu) | |
| 11 | g.1753532C>T | CA5813874 | CTSD | c.1210G>A (p.Val404Met) c.1105G>A (p.Val369Met) c.634+1G>A c.*376G>A (n.*376G>A) c.1327G>A (p.Val443Met) c.1071+271G>A (n.1071+271G>A) c.1189G>A (p.Val397Met) c.72+271G>A (n.72+271G>A) c.1204G>A (p.Val402Met) n.808G>A n.3638G>A c.1192G>A (p.Val398Met) c.1201G>A (p.Val401Met) n.518G>A c.*1071G>A (n.*1071G>A) c.471+271G>A (n.471+271G>A) c.541G>A (p.Val181Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753533C>A | CA379092359 | CTSD | c.1209G>T (p.Arg403Ser) c.1104G>T (p.Arg368Ser) c.634G>T c.*375G>T (n.*375G>T) c.1326G>T (p.Arg442Ser) c.1071+270G>T (n.1071+270G>T) c.1188G>T (p.Arg396Ser) c.72+270G>T (n.72+270G>T) c.1203G>T (p.Arg401Ser) n.807G>T n.3637G>T c.1191G>T (p.Arg397Ser) c.1200G>T (p.Arg400Ser) n.517G>T c.*1070G>T (n.*1070G>T) c.471+270G>T (n.471+270G>T) c.540G>T (p.Arg180Ser) | |
| 11 | g.1753533C= | CA1947825103 | CTSD | c.1209G= (p.Arg403=) c.1104G= (p.Arg368=) c.634G= c.*375G= (n.*375G=) c.1326G= (p.Arg442=) c.1071+270G= (n.1071+270G=) c.1188G= (p.Arg396=) c.72+270G= (n.72+270G=) c.1203G= (p.Arg401=) n.807G= n.3637G= c.1191G= (p.Arg397=) c.1200G= (p.Arg400=) n.517G= c.*1070G= (n.*1070G=) c.471+270G= (n.471+270G=) c.540G= (p.Arg180=) | |
| 11 | g.1753533C>G | CA379092360 | CTSD | c.1209G>C (p.Arg403Ser) c.1104G>C (p.Arg368Ser) c.634G>C c.*375G>C (n.*375G>C) c.1326G>C (p.Arg442Ser) c.1071+270G>C (n.1071+270G>C) c.1188G>C (p.Arg396Ser) c.72+270G>C (n.72+270G>C) c.1203G>C (p.Arg401Ser) n.807G>C n.3637G>C c.1191G>C (p.Arg397Ser) c.1200G>C (p.Arg400Ser) n.517G>C c.*1070G>C (n.*1070G>C) c.471+270G>C (n.471+270G>C) c.540G>C (p.Arg180Ser) | |
| 11 | g.1753533C>T | CA5813875 | CTSD | c.1209G>A (p.Arg403=) c.1104G>A (p.Arg368=) c.634G>A c.*375G>A (n.*375G>A) c.1326G>A (p.Arg442=) c.1071+270G>A (n.1071+270G>A) c.1188G>A (p.Arg396=) c.72+270G>A (n.72+270G>A) c.1203G>A (p.Arg401=) n.807G>A n.3637G>A c.1191G>A (p.Arg397=) c.1200G>A (p.Arg400=) n.517G>A c.*1070G>A (n.*1070G>A) c.471+270G>A (n.471+270G>A) c.540G>A (p.Arg180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753534C>A | CA379092361 | CTSD | c.1208G>T (p.Arg403Met) c.1103G>T (p.Arg368Met) c.633G>T c.*374G>T (n.*374G>T) c.1325G>T (p.Arg442Met) c.1071+269G>T (n.1071+269G>T) c.1187G>T (p.Arg396Met) c.72+269G>T (n.72+269G>T) c.1202G>T (p.Arg401Met) n.806G>T n.3636G>T c.1190G>T (p.Arg397Met) c.1199G>T (p.Arg400Met) n.516G>T c.*1069G>T (n.*1069G>T) c.471+269G>T (n.471+269G>T) c.539G>T (p.Arg180Met) | |
| 11 | g.1753534C= | CA1947825104 | CTSD | c.1208G= (p.Arg403=) c.1103G= (p.Arg368=) c.633G= c.*374G= (n.*374G=) c.1325G= (p.Arg442=) c.1071+269G= (n.1071+269G=) c.1187G= (p.Arg396=) c.72+269G= (n.72+269G=) c.1202G= (p.Arg401=) n.806G= n.3636G= c.1190G= (p.Arg397=) c.1199G= (p.Arg400=) n.516G= c.*1069G= (n.*1069G=) c.471+269G= (n.471+269G=) c.539G= (p.Arg180=) | |
| 11 | g.1753534C>G | CA5813876 | CTSD | c.1208G>C (p.Arg403Thr) c.1103G>C (p.Arg368Thr) c.633G>C c.*374G>C (n.*374G>C) c.1325G>C (p.Arg442Thr) c.1071+269G>C (n.1071+269G>C) c.1187G>C (p.Arg396Thr) c.72+269G>C (n.72+269G>C) c.1202G>C (p.Arg401Thr) n.806G>C n.3636G>C c.1190G>C (p.Arg397Thr) c.1199G>C (p.Arg400Thr) n.516G>C c.*1069G>C (n.*1069G>C) c.471+269G>C (n.471+269G>C) c.539G>C (p.Arg180Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753534C>T | CA379092362 | CTSD | c.1208G>A (p.Arg403Lys) c.1103G>A (p.Arg368Lys) c.633G>A c.*374G>A (n.*374G>A) c.1325G>A (p.Arg442Lys) c.1071+269G>A (n.1071+269G>A) c.1187G>A (p.Arg396Lys) c.72+269G>A (n.72+269G>A) c.1202G>A (p.Arg401Lys) n.806G>A n.3636G>A c.1190G>A (p.Arg397Lys) c.1199G>A (p.Arg400Lys) n.516G>A c.*1069G>A (n.*1069G>A) c.471+269G>A (n.471+269G>A) c.539G>A (p.Arg180Lys) | gnomAD v4 |
| 11 | g.1753535T>A | CA379092364 | CTSD | c.1207A>T (p.Arg403Trp) c.1102A>T (p.Arg368Trp) c.632A>T c.*373A>T (n.*373A>T) c.1324A>T (p.Arg442Trp) c.1071+268A>T (n.1071+268A>T) c.1186A>T (p.Arg396Trp) c.72+268A>T (n.72+268A>T) c.1201A>T (p.Arg401Trp) n.805A>T n.3635A>T c.1189A>T (p.Arg397Trp) c.1198A>T (p.Arg400Trp) n.515A>T c.*1068A>T (n.*1068A>T) c.471+268A>T (n.471+268A>T) c.538A>T (p.Arg180Trp) | |
| 11 | g.1753535T>C | CA379092363 | CTSD | c.1207A>G (p.Arg403Gly) c.1102A>G (p.Arg368Gly) c.632A>G c.*373A>G (n.*373A>G) c.1324A>G (p.Arg442Gly) c.1071+268A>G (n.1071+268A>G) c.1186A>G (p.Arg396Gly) c.72+268A>G (n.72+268A>G) c.1201A>G (p.Arg401Gly) n.805A>G n.3635A>G c.1189A>G (p.Arg397Gly) c.1198A>G (p.Arg400Gly) n.515A>G c.*1068A>G (n.*1068A>G) c.471+268A>G (n.471+268A>G) c.538A>G (p.Arg180Gly) | dbSNP |
| 11 | g.1753535T>G | CA472139603 | CTSD | c.1207A>C (p.Arg403=) c.1102A>C (p.Arg368=) c.632A>C c.*373A>C (n.*373A>C) c.1324A>C (p.Arg442=) c.1071+268A>C (n.1071+268A>C) c.1186A>C (p.Arg396=) c.72+268A>C (n.72+268A>C) c.1201A>C (p.Arg401=) n.805A>C n.3635A>C c.1189A>C (p.Arg397=) c.1198A>C (p.Arg400=) n.515A>C c.*1068A>C (n.*1068A>C) c.471+268A>C (n.471+268A>C) c.538A>C (p.Arg180=) | |
| 11 | g.1753535T= | CA1947825105 | CTSD | c.1207A= (p.Arg403=) c.1102A= (p.Arg368=) c.632A= c.*373A= (n.*373A=) c.1324A= (p.Arg442=) c.1071+268A= (n.1071+268A=) c.1186A= (p.Arg396=) c.72+268A= (n.72+268A=) c.1201A= (p.Arg401=) n.805A= n.3635A= c.1189A= (p.Arg397=) c.1198A= (p.Arg400=) n.515A= c.*1068A= (n.*1068A=) c.471+268A= (n.471+268A=) c.538A= (p.Arg180=) | |
| 11 | g.1753541_1753543del | CA2580616895 | CTSD | c.1205_1207del (p.Asn402del) c.1100_1102del (p.Asn367del) c.630_632del c.*371_*373del (n.*371_*373del) c.1322_1324del (p.Asn441del) c.1071+266_1071+268del (n.1071+266_1071+268del) c.1184_1186del (p.Asn395del) c.72+266_72+268del (n.72+266_72+268del) c.1199_1201del (p.Asn400del) n.803_805del n.3633_3635del c.1187_1189del (p.Asn396del) c.1196_1198del (p.Asn399del) n.513_515del c.*1066_*1068del (n.*1066_*1068del) c.471+266_471+268del (n.471+266_471+268del) c.536_538del (p.Asn179del) | ClinVar dbSNP |
| 11 | g.1753536G>A | CA472139622 | CTSD | c.1206C>T (p.Asn402=) c.1101C>T (p.Asn367=) c.631C>T c.*372C>T (n.*372C>T) c.1323C>T (p.Asn441=) c.1071+267C>T (n.1071+267C>T) c.1185C>T (p.Asn395=) c.72+267C>T (n.72+267C>T) c.1200C>T (p.Asn400=) n.804C>T n.3634C>T c.1188C>T (p.Asn396=) c.1197C>T (p.Asn399=) n.514C>T c.*1067C>T (n.*1067C>T) c.471+267C>T (n.471+267C>T) c.537C>T (p.Asn179=) | ClinVar |
| 11 | g.1753536G>C | CA379092365 | CTSD | c.1206C>G (p.Asn402Lys) c.1101C>G (p.Asn367Lys) c.631C>G c.*372C>G (n.*372C>G) c.1323C>G (p.Asn441Lys) c.1071+267C>G (n.1071+267C>G) c.1185C>G (p.Asn395Lys) c.72+267C>G (n.72+267C>G) c.1200C>G (p.Asn400Lys) n.804C>G n.3634C>G c.1188C>G (p.Asn396Lys) c.1197C>G (p.Asn399Lys) n.514C>G c.*1067C>G (n.*1067C>G) c.471+267C>G (n.471+267C>G) c.537C>G (p.Asn179Lys) | |
| 11 | g.1753536G>T | CA379092366 | CTSD | c.1206C>A (p.Asn402Lys) c.1101C>A (p.Asn367Lys) c.631C>A c.*372C>A (n.*372C>A) c.1323C>A (p.Asn441Lys) c.1071+267C>A (n.1071+267C>A) c.1185C>A (p.Asn395Lys) c.72+267C>A (n.72+267C>A) c.1200C>A (p.Asn400Lys) n.804C>A n.3634C>A c.1188C>A (p.Asn396Lys) c.1197C>A (p.Asn399Lys) n.514C>A c.*1067C>A (n.*1067C>A) c.471+267C>A (n.471+267C>A) c.537C>A (p.Asn179Lys) | |
| 11 | g.1753537T>A | CA379092367 | CTSD | c.1205A>T (p.Asn402Ile) c.1100A>T (p.Asn367Ile) c.630A>T c.*371A>T (n.*371A>T) c.1322A>T (p.Asn441Ile) c.1071+266A>T (n.1071+266A>T) c.1184A>T (p.Asn395Ile) c.72+266A>T (n.72+266A>T) c.1199A>T (p.Asn400Ile) n.803A>T n.3633A>T c.1187A>T (p.Asn396Ile) c.1196A>T (p.Asn399Ile) n.513A>T c.*1066A>T (n.*1066A>T) c.471+266A>T (n.471+266A>T) c.536A>T (p.Asn179Ile) | |
| 11 | g.1753537T>C | CA379092368 | CTSD | c.1205A>G (p.Asn402Ser) c.1100A>G (p.Asn367Ser) c.630A>G c.*371A>G (n.*371A>G) c.1322A>G (p.Asn441Ser) c.1071+266A>G (n.1071+266A>G) c.1184A>G (p.Asn395Ser) c.72+266A>G (n.72+266A>G) c.1199A>G (p.Asn400Ser) n.803A>G n.3633A>G c.1187A>G (p.Asn396Ser) c.1196A>G (p.Asn399Ser) n.513A>G c.*1066A>G (n.*1066A>G) c.471+266A>G (n.471+266A>G) c.536A>G (p.Asn179Ser) | |
| 11 | g.1753537T>G | CA379092369 | CTSD | c.1205A>C (p.Asn402Thr) c.1100A>C (p.Asn367Thr) c.630A>C c.*371A>C (n.*371A>C) c.1322A>C (p.Asn441Thr) c.1071+266A>C (n.1071+266A>C) c.1184A>C (p.Asn395Thr) c.72+266A>C (n.72+266A>C) c.1199A>C (p.Asn400Thr) n.803A>C n.3633A>C c.1187A>C (p.Asn396Thr) c.1196A>C (p.Asn399Thr) n.513A>C c.*1066A>C (n.*1066A>C) c.471+266A>C (n.471+266A>C) c.536A>C (p.Asn179Thr) | |
| 11 | g.1753538T>A | CA379092370 | CTSD | c.1204A>T (p.Asn402Tyr) c.1099A>T (p.Asn367Tyr) c.629A>T c.*370A>T (n.*370A>T) c.1321A>T (p.Asn441Tyr) c.1071+265A>T (n.1071+265A>T) c.1183A>T (p.Asn395Tyr) c.72+265A>T (n.72+265A>T) c.1198A>T (p.Asn400Tyr) n.802A>T n.3632A>T c.1186A>T (p.Asn396Tyr) c.1195A>T (p.Asn399Tyr) n.512A>T c.*1065A>T (n.*1065A>T) c.471+265A>T (n.471+265A>T) c.535A>T (p.Asn179Tyr) | |
| 11 | g.1753538T>C | CA379092371 | CTSD | c.1204A>G (p.Asn402Asp) c.1099A>G (p.Asn367Asp) c.629A>G c.*370A>G (n.*370A>G) c.1321A>G (p.Asn441Asp) c.1071+265A>G (n.1071+265A>G) c.1183A>G (p.Asn395Asp) c.72+265A>G (n.72+265A>G) c.1198A>G (p.Asn400Asp) n.802A>G n.3632A>G c.1186A>G (p.Asn396Asp) c.1195A>G (p.Asn399Asp) n.512A>G c.*1065A>G (n.*1065A>G) c.471+265A>G (n.471+265A>G) c.535A>G (p.Asn179Asp) | ClinVar gnomAD v4 |
| 11 | g.1753538T>G | CA379092372 | CTSD | c.1204A>C (p.Asn402His) c.1099A>C (p.Asn367His) c.629A>C c.*370A>C (n.*370A>C) c.1321A>C (p.Asn441His) c.1071+265A>C (n.1071+265A>C) c.1183A>C (p.Asn395His) c.72+265A>C (n.72+265A>C) c.1198A>C (p.Asn400His) n.802A>C n.3632A>C c.1186A>C (p.Asn396His) c.1195A>C (p.Asn399His) n.512A>C c.*1065A>C (n.*1065A>C) c.471+265A>C (n.471+265A>C) c.535A>C (p.Asn179His) | |
| 11 | g.1753539G>A | CA472139658 | CTSD | c.1203C>T (p.Asn401=) c.1098C>T (p.Asn366=) c.628C>T c.*369C>T (n.*369C>T) c.1320C>T (p.Asn440=) c.1071+264C>T (n.1071+264C>T) c.1182C>T (p.Asn394=) c.72+264C>T (n.72+264C>T) c.1197C>T (p.Asn399=) n.801C>T n.3631C>T c.1185C>T (p.Asn395=) c.1194C>T (p.Asn398=) n.511C>T c.*1064C>T (n.*1064C>T) c.471+264C>T (n.471+264C>T) c.534C>T (p.Asn178=) | |
| 11 | g.1753539G>C | CA379092373 | CTSD | c.1203C>G (p.Asn401Lys) c.1098C>G (p.Asn366Lys) c.628C>G c.*369C>G (n.*369C>G) c.1320C>G (p.Asn440Lys) c.1071+264C>G (n.1071+264C>G) c.1182C>G (p.Asn394Lys) c.72+264C>G (n.72+264C>G) c.1197C>G (p.Asn399Lys) n.801C>G n.3631C>G c.1185C>G (p.Asn395Lys) c.1194C>G (p.Asn398Lys) n.511C>G c.*1064C>G (n.*1064C>G) c.471+264C>G (n.471+264C>G) c.534C>G (p.Asn178Lys) | |
| 11 | g.1753539G>T | CA379092374 | CTSD | c.1203C>A (p.Asn401Lys) c.1098C>A (p.Asn366Lys) c.628C>A c.*369C>A (n.*369C>A) c.1320C>A (p.Asn440Lys) c.1071+264C>A (n.1071+264C>A) c.1182C>A (p.Asn394Lys) c.72+264C>A (n.72+264C>A) c.1197C>A (p.Asn399Lys) n.801C>A n.3631C>A c.1185C>A (p.Asn395Lys) c.1194C>A (p.Asn398Lys) n.511C>A c.*1064C>A (n.*1064C>A) c.471+264C>A (n.471+264C>A) c.534C>A (p.Asn178Lys) | gnomAD v4 |
| 11 | g.1753540T>A | CA379092375 | CTSD | c.1202A>T (p.Asn401Ile) c.1097A>T (p.Asn366Ile) c.627A>T c.*368A>T (n.*368A>T) c.1319A>T (p.Asn440Ile) c.1071+263A>T (n.1071+263A>T) c.1181A>T (p.Asn394Ile) c.72+263A>T (n.72+263A>T) c.1196A>T (p.Asn399Ile) n.800A>T n.3630A>T c.1184A>T (p.Asn395Ile) c.1193A>T (p.Asn398Ile) n.510A>T c.*1063A>T (n.*1063A>T) c.471+263A>T (n.471+263A>T) c.533A>T (p.Asn178Ile) | |
| 11 | g.1753540T>C | CA314334 | CTSD | c.1202A>G (p.Asn401Ser) c.1097A>G (p.Asn366Ser) c.627A>G c.*368A>G (n.*368A>G) c.1319A>G (p.Asn440Ser) c.1071+263A>G (n.1071+263A>G) c.1181A>G (p.Asn394Ser) c.72+263A>G (n.72+263A>G) c.1196A>G (p.Asn399Ser) n.800A>G n.3630A>G c.1184A>G (p.Asn395Ser) c.1193A>G (p.Asn398Ser) n.510A>G c.*1063A>G (n.*1063A>G) c.471+263A>G (n.471+263A>G) c.533A>G (p.Asn178Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753540T>G | CA379092376 | CTSD | c.1202A>C (p.Asn401Thr) c.1097A>C (p.Asn366Thr) c.627A>C c.*368A>C (n.*368A>C) c.1319A>C (p.Asn440Thr) c.1071+263A>C (n.1071+263A>C) c.1181A>C (p.Asn394Thr) c.72+263A>C (n.72+263A>C) c.1196A>C (p.Asn399Thr) n.800A>C n.3630A>C c.1184A>C (p.Asn395Thr) c.1193A>C (p.Asn398Thr) n.510A>C c.*1063A>C (n.*1063A>C) c.471+263A>C (n.471+263A>C) c.533A>C (p.Asn178Thr) | |
| 11 | g.1753540T= | CA1947825106 | CTSD | c.1202A= (p.Asn401=) c.1097A= (p.Asn366=) c.627A= c.*368A= (n.*368A=) c.1319A= (p.Asn440=) c.1071+263A= (n.1071+263A=) c.1181A= (p.Asn394=) c.72+263A= (n.72+263A=) c.1196A= (p.Asn399=) n.800A= n.3630A= c.1184A= (p.Asn395=) c.1193A= (p.Asn398=) n.510A= c.*1063A= (n.*1063A=) c.471+263A= (n.471+263A=) c.533A= (p.Asn178=) | |
| 11 | g.1753541T>A | CA379092378 | CTSD | c.1201A>T (p.Asn401Tyr) c.1096A>T (p.Asn366Tyr) c.626A>T c.*367A>T (n.*367A>T) c.1318A>T (p.Asn440Tyr) c.1071+262A>T (n.1071+262A>T) c.1180A>T (p.Asn394Tyr) c.72+262A>T (n.72+262A>T) c.1195A>T (p.Asn399Tyr) n.799A>T n.3629A>T c.1183A>T (p.Asn395Tyr) c.1192A>T (p.Asn398Tyr) n.509A>T c.*1062A>T (n.*1062A>T) c.471+262A>T (n.471+262A>T) c.532A>T (p.Asn178Tyr) | |
| 11 | g.1753541T>C | CA379092379 | CTSD | c.1201A>G (p.Asn401Asp) c.1096A>G (p.Asn366Asp) c.626A>G c.*367A>G (n.*367A>G) c.1318A>G (p.Asn440Asp) c.1071+262A>G (n.1071+262A>G) c.1180A>G (p.Asn394Asp) c.72+262A>G (n.72+262A>G) c.1195A>G (p.Asn399Asp) n.799A>G n.3629A>G c.1183A>G (p.Asn395Asp) c.1192A>G (p.Asn398Asp) n.509A>G c.*1062A>G (n.*1062A>G) c.471+262A>G (n.471+262A>G) c.532A>G (p.Asn178Asp) | |
| 11 | g.1753541T>G | CA379092377 | CTSD | c.1201A>C (p.Asn401His) c.1096A>C (p.Asn366His) c.626A>C c.*367A>C (n.*367A>C) c.1318A>C (p.Asn440His) c.1071+262A>C (n.1071+262A>C) c.1180A>C (p.Asn394His) c.72+262A>C (n.72+262A>C) c.1195A>C (p.Asn399His) n.799A>C n.3629A>C c.1183A>C (p.Asn395His) c.1192A>C (p.Asn398His) n.509A>C c.*1062A>C (n.*1062A>C) c.471+262A>C (n.471+262A>C) c.532A>C (p.Asn178His) | |
| 11 | g.1753542G>A | CA472139681 | CTSD | c.1200C>T (p.Asp400=) c.1095C>T (p.Asp365=) c.625C>T c.*366C>T (n.*366C>T) c.1317C>T (p.Asp439=) c.1071+261C>T (n.1071+261C>T) c.1179C>T (p.Asp393=) c.72+261C>T (n.72+261C>T) c.1194C>T (p.Asp398=) n.798C>T n.3628C>T c.1182C>T (p.Asp394=) c.1191C>T (p.Asp397=) n.508C>T c.*1061C>T (n.*1061C>T) c.471+261C>T (n.471+261C>T) c.531C>T (p.Asp177=) | |
| 11 | g.1753542G>C | CA379092381 | CTSD | c.1200C>G (p.Asp400Glu) c.1095C>G (p.Asp365Glu) c.625C>G c.*366C>G (n.*366C>G) c.1317C>G (p.Asp439Glu) c.1071+261C>G (n.1071+261C>G) c.1179C>G (p.Asp393Glu) c.72+261C>G (n.72+261C>G) c.1194C>G (p.Asp398Glu) n.798C>G n.3628C>G c.1182C>G (p.Asp394Glu) c.1191C>G (p.Asp397Glu) n.508C>G c.*1061C>G (n.*1061C>G) c.471+261C>G (n.471+261C>G) c.531C>G (p.Asp177Glu) | |
| 11 | g.1753542G>T | CA379092380 | CTSD | c.1200C>A (p.Asp400Glu) c.1095C>A (p.Asp365Glu) c.625C>A c.*366C>A (n.*366C>A) c.1317C>A (p.Asp439Glu) c.1071+261C>A (n.1071+261C>A) c.1179C>A (p.Asp393Glu) c.72+261C>A (n.72+261C>A) c.1194C>A (p.Asp398Glu) n.798C>A n.3628C>A c.1182C>A (p.Asp394Glu) c.1191C>A (p.Asp397Glu) n.508C>A c.*1061C>A (n.*1061C>A) c.471+261C>A (n.471+261C>A) c.531C>A (p.Asp177Glu) | |
| 11 | g.1753543T>A | CA379092382 | CTSD | c.1199A>T (p.Asp400Val) c.1094A>T (p.Asp365Val) c.624A>T c.*365A>T (n.*365A>T) c.1316A>T (p.Asp439Val) c.1071+260A>T (n.1071+260A>T) c.1178A>T (p.Asp393Val) c.72+260A>T (n.72+260A>T) c.1193A>T (p.Asp398Val) n.797A>T n.3627A>T c.1181A>T (p.Asp394Val) c.1190A>T (p.Asp397Val) n.507A>T c.*1060A>T (n.*1060A>T) c.471+260A>T (n.471+260A>T) c.530A>T (p.Asp177Val) | |
| 11 | g.1753543T>C | CA379092383 | CTSD | c.1199A>G (p.Asp400Gly) c.1094A>G (p.Asp365Gly) c.624A>G c.*365A>G (n.*365A>G) c.1316A>G (p.Asp439Gly) c.1071+260A>G (n.1071+260A>G) c.1178A>G (p.Asp393Gly) c.72+260A>G (n.72+260A>G) c.1193A>G (p.Asp398Gly) n.797A>G n.3627A>G c.1181A>G (p.Asp394Gly) c.1190A>G (p.Asp397Gly) n.507A>G c.*1060A>G (n.*1060A>G) c.471+260A>G (n.471+260A>G) c.530A>G (p.Asp177Gly) | |
| 11 | g.1753543T>G | CA379092384 | CTSD | c.1199A>C (p.Asp400Ala) c.1094A>C (p.Asp365Ala) c.624A>C c.*365A>C (n.*365A>C) c.1316A>C (p.Asp439Ala) c.1071+260A>C (n.1071+260A>C) c.1178A>C (p.Asp393Ala) c.72+260A>C (n.72+260A>C) c.1193A>C (p.Asp398Ala) n.797A>C n.3627A>C c.1181A>C (p.Asp394Ala) c.1190A>C (p.Asp397Ala) n.507A>C c.*1060A>C (n.*1060A>C) c.471+260A>C (n.471+260A>C) c.530A>C (p.Asp177Ala) | |
| 11 | g.1753544C>A | CA379092385 | CTSD | c.1198G>T (p.Asp400Tyr) c.1093G>T (p.Asp365Tyr) c.623G>T c.*364G>T (n.*364G>T) c.1315G>T (p.Asp439Tyr) c.1071+259G>T (n.1071+259G>T) c.1177G>T (p.Asp393Tyr) c.72+259G>T (n.72+259G>T) c.1192G>T (p.Asp398Tyr) n.796G>T n.3626G>T c.1180G>T (p.Asp394Tyr) c.1189G>T (p.Asp397Tyr) n.506G>T c.*1059G>T (n.*1059G>T) c.471+259G>T (n.471+259G>T) c.529G>T (p.Asp177Tyr) | |
| 11 | g.1753544C>G | CA379092386 | CTSD | c.1198G>C (p.Asp400His) c.1093G>C (p.Asp365His) c.623G>C c.*364G>C (n.*364G>C) c.1315G>C (p.Asp439His) c.1071+259G>C (n.1071+259G>C) c.1177G>C (p.Asp393His) c.72+259G>C (n.72+259G>C) c.1192G>C (p.Asp398His) n.796G>C n.3626G>C c.1180G>C (p.Asp394His) c.1189G>C (p.Asp397His) n.506G>C c.*1059G>C (n.*1059G>C) c.471+259G>C (n.471+259G>C) c.529G>C (p.Asp177His) | |
| 11 | g.1753544C>T | CA379092387 | CTSD | c.1198G>A (p.Asp400Asn) c.1093G>A (p.Asp365Asn) c.623G>A c.*364G>A (n.*364G>A) c.1315G>A (p.Asp439Asn) c.1071+259G>A (n.1071+259G>A) c.1177G>A (p.Asp393Asn) c.72+259G>A (n.72+259G>A) c.1192G>A (p.Asp398Asn) n.796G>A n.3626G>A c.1180G>A (p.Asp394Asn) c.1189G>A (p.Asp397Asn) n.506G>A c.*1059G>A (n.*1059G>A) c.471+259G>A (n.471+259G>A) c.529G>A (p.Asp177Asn) | |
| 11 | g.1753545A>C | CA472139697 | CTSD | c.1197T>G (p.Arg399=) c.1092T>G (p.Arg364=) c.622T>G c.*363T>G (n.*363T>G) c.1314T>G (p.Arg438=) c.1071+258T>G (n.1071+258T>G) c.1176T>G (p.Arg392=) c.72+258T>G (n.72+258T>G) c.1191T>G (p.Arg397=) n.795T>G n.3625T>G c.1179T>G (p.Arg393=) c.1188T>G (p.Arg396=) n.505T>G c.*1058T>G (n.*1058T>G) c.471+258T>G (n.471+258T>G) c.528T>G (p.Arg176=) | |
| 11 | g.1753545A>G | CA472139698 | CTSD | c.1197T>C (p.Arg399=) c.1092T>C (p.Arg364=) c.622T>C c.*363T>C (n.*363T>C) c.1314T>C (p.Arg438=) c.1071+258T>C (n.1071+258T>C) c.1176T>C (p.Arg392=) c.72+258T>C (n.72+258T>C) c.1191T>C (p.Arg397=) n.795T>C n.3625T>C c.1179T>C (p.Arg393=) c.1188T>C (p.Arg396=) n.505T>C c.*1058T>C (n.*1058T>C) c.471+258T>C (n.471+258T>C) c.528T>C (p.Arg176=) | |
| 11 | g.1753545A>T | CA472139699 | CTSD | c.1197T>A (p.Arg399=) c.1092T>A (p.Arg364=) c.622T>A c.*363T>A (n.*363T>A) c.1314T>A (p.Arg438=) c.1071+258T>A (n.1071+258T>A) c.1176T>A (p.Arg392=) c.72+258T>A (n.72+258T>A) c.1191T>A (p.Arg397=) n.795T>A n.3625T>A c.1179T>A (p.Arg393=) c.1188T>A (p.Arg396=) n.505T>A c.*1058T>A (n.*1058T>A) c.471+258T>A (n.471+258T>A) c.528T>A (p.Arg176=) | |
| 11 | g.1753546C>A | CA379092389 | CTSD | c.1196G>T (p.Arg399Leu) c.1091G>T (p.Arg364Leu) c.621G>T c.*362G>T (n.*362G>T) c.1313G>T (p.Arg438Leu) c.1071+257G>T (n.1071+257G>T) c.1175G>T (p.Arg392Leu) c.72+257G>T (n.72+257G>T) c.1190G>T (p.Arg397Leu) n.794G>T n.3624G>T c.1178G>T (p.Arg393Leu) c.1187G>T (p.Arg396Leu) n.504G>T c.*1057G>T (n.*1057G>T) c.471+257G>T (n.471+257G>T) c.527G>T (p.Arg176Leu) | |
| 11 | g.1753546C= | CA1947825107 | CTSD | c.1196G= (p.Arg399=) c.1091G= (p.Arg364=) c.621G= c.*362G= (n.*362G=) c.1313G= (p.Arg438=) c.1071+257G= (n.1071+257G=) c.1175G= (p.Arg392=) c.72+257G= (n.72+257G=) c.1190G= (p.Arg397=) n.794G= n.3624G= c.1178G= (p.Arg393=) c.1187G= (p.Arg396=) n.504G= c.*1057G= (n.*1057G=) c.471+257G= (n.471+257G=) c.527G= (p.Arg176=) | |
| 11 | g.1753546C>G | CA379092388 | CTSD | c.1196G>C (p.Arg399Pro) c.1091G>C (p.Arg364Pro) c.621G>C c.*362G>C (n.*362G>C) c.1313G>C (p.Arg438Pro) c.1071+257G>C (n.1071+257G>C) c.1175G>C (p.Arg392Pro) c.72+257G>C (n.72+257G>C) c.1190G>C (p.Arg397Pro) n.794G>C n.3624G>C c.1178G>C (p.Arg393Pro) c.1187G>C (p.Arg396Pro) n.504G>C c.*1057G>C (n.*1057G>C) c.471+257G>C (n.471+257G>C) c.527G>C (p.Arg176Pro) | |
| 11 | g.1753546C>T | CA276038 | CTSD | c.1196G>A (p.Arg399His) c.1091G>A (p.Arg364His) c.621G>A c.*362G>A (n.*362G>A) c.1313G>A (p.Arg438His) c.1071+257G>A (n.1071+257G>A) c.1175G>A (p.Arg392His) c.72+257G>A (n.72+257G>A) c.1190G>A (p.Arg397His) n.794G>A n.3624G>A c.1178G>A (p.Arg393His) c.1187G>A (p.Arg396His) n.504G>A c.*1057G>A (n.*1057G>A) c.471+257G>A (n.471+257G>A) c.527G>A (p.Arg176His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753547G>A | CA5813877 | CTSD | c.1195C>T (p.Arg399Cys) c.1090C>T (p.Arg364Cys) c.620C>T c.*361C>T (n.*361C>T) c.1312C>T (p.Arg438Cys) c.1071+256C>T (n.1071+256C>T) c.1174C>T (p.Arg392Cys) c.72+256C>T (n.72+256C>T) c.1189C>T (p.Arg397Cys) n.793C>T n.3623C>T c.1177C>T (p.Arg393Cys) c.1186C>T (p.Arg396Cys) n.503C>T c.*1056C>T (n.*1056C>T) c.471+256C>T (n.471+256C>T) c.526C>T (p.Arg176Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753547G>C | CA379092390 | CTSD | c.1195C>G (p.Arg399Gly) c.1090C>G (p.Arg364Gly) c.620C>G c.*361C>G (n.*361C>G) c.1312C>G (p.Arg438Gly) c.1071+256C>G (n.1071+256C>G) c.1174C>G (p.Arg392Gly) c.72+256C>G (n.72+256C>G) c.1189C>G (p.Arg397Gly) n.793C>G n.3623C>G c.1177C>G (p.Arg393Gly) c.1186C>G (p.Arg396Gly) n.503C>G c.*1056C>G (n.*1056C>G) c.471+256C>G (n.471+256C>G) c.526C>G (p.Arg176Gly) | |
| 11 | g.1753547G= | CA1947825108 | CTSD | c.1195C= (p.Arg399=) c.1090C= (p.Arg364=) c.620C= c.*361C= (n.*361C=) c.1312C= (p.Arg438=) c.1071+256C= (n.1071+256C=) c.1174C= (p.Arg392=) c.72+256C= (n.72+256C=) c.1189C= (p.Arg397=) n.793C= n.3623C= c.1177C= (p.Arg393=) c.1186C= (p.Arg396=) n.503C= c.*1056C= (n.*1056C=) c.471+256C= (n.471+256C=) c.526C= (p.Arg176=) | |
| 11 | g.1753547G>T | CA379092391 | CTSD | c.1195C>A (p.Arg399Ser) c.1090C>A (p.Arg364Ser) c.620C>A c.*361C>A (n.*361C>A) c.1312C>A (p.Arg438Ser) c.1071+256C>A (n.1071+256C>A) c.1174C>A (p.Arg392Ser) c.72+256C>A (n.72+256C>A) c.1189C>A (p.Arg397Ser) n.793C>A n.3623C>A c.1177C>A (p.Arg393Ser) c.1186C>A (p.Arg396Ser) n.503C>A c.*1056C>A (n.*1056C>A) c.471+256C>A (n.471+256C>A) c.526C>A (p.Arg176Ser) | |
| 11 | g.1753548G>A | CA472139717 | CTSD | c.1194C>T (p.Asp398=) c.1089C>T (p.Asp363=) c.619C>T c.*360C>T (n.*360C>T) c.1311C>T (p.Asp437=) c.1071+255C>T (n.1071+255C>T) c.1173C>T (p.Asp391=) c.72+255C>T (n.72+255C>T) c.1188C>T (p.Asp396=) n.792C>T n.3622C>T c.1176C>T (p.Asp392=) c.1185C>T (p.Asp395=) n.502C>T c.*1055C>T (n.*1055C>T) c.471+255C>T (n.471+255C>T) c.525C>T (p.Asp175=) | ClinVar |
| 11 | g.1753548G>C | CA379092392 | CTSD | c.1194C>G (p.Asp398Glu) c.1089C>G (p.Asp363Glu) c.619C>G c.*360C>G (n.*360C>G) c.1311C>G (p.Asp437Glu) c.1071+255C>G (n.1071+255C>G) c.1173C>G (p.Asp391Glu) c.72+255C>G (n.72+255C>G) c.1188C>G (p.Asp396Glu) n.792C>G n.3622C>G c.1176C>G (p.Asp392Glu) c.1185C>G (p.Asp395Glu) n.502C>G c.*1055C>G (n.*1055C>G) c.471+255C>G (n.471+255C>G) c.525C>G (p.Asp175Glu) | |
| 11 | g.1753548G>T | CA379092393 | CTSD | c.1194C>A (p.Asp398Glu) c.1089C>A (p.Asp363Glu) c.619C>A c.*360C>A (n.*360C>A) c.1311C>A (p.Asp437Glu) c.1071+255C>A (n.1071+255C>A) c.1173C>A (p.Asp391Glu) c.72+255C>A (n.72+255C>A) c.1188C>A (p.Asp396Glu) n.792C>A n.3622C>A c.1176C>A (p.Asp392Glu) c.1185C>A (p.Asp395Glu) n.502C>A c.*1055C>A (n.*1055C>A) c.471+255C>A (n.471+255C>A) c.525C>A (p.Asp175Glu) | |
| 11 | g.1753549T>A | CA379092394 | CTSD | c.1193A>T (p.Asp398Val) c.1088A>T (p.Asp363Val) c.618A>T c.*359A>T (n.*359A>T) c.1310A>T (p.Asp437Val) c.1071+254A>T (n.1071+254A>T) c.1172A>T (p.Asp391Val) c.72+254A>T (n.72+254A>T) c.1187A>T (p.Asp396Val) n.791A>T n.3621A>T c.1175A>T (p.Asp392Val) c.1184A>T (p.Asp395Val) n.501A>T c.*1054A>T (n.*1054A>T) c.471+254A>T (n.471+254A>T) c.524A>T (p.Asp175Val) | |
| 11 | g.1753549T>C | CA379092396 | CTSD | c.1193A>G (p.Asp398Gly) c.1088A>G (p.Asp363Gly) c.618A>G c.*359A>G (n.*359A>G) c.1310A>G (p.Asp437Gly) c.1071+254A>G (n.1071+254A>G) c.1172A>G (p.Asp391Gly) c.72+254A>G (n.72+254A>G) c.1187A>G (p.Asp396Gly) n.791A>G n.3621A>G c.1175A>G (p.Asp392Gly) c.1184A>G (p.Asp395Gly) n.501A>G c.*1054A>G (n.*1054A>G) c.471+254A>G (n.471+254A>G) c.524A>G (p.Asp175Gly) | dbSNP |
| 11 | g.1753549T>G | CA379092395 | CTSD | c.1193A>C (p.Asp398Ala) c.1088A>C (p.Asp363Ala) c.618A>C c.*359A>C (n.*359A>C) c.1310A>C (p.Asp437Ala) c.1071+254A>C (n.1071+254A>C) c.1172A>C (p.Asp391Ala) c.72+254A>C (n.72+254A>C) c.1187A>C (p.Asp396Ala) n.791A>C n.3621A>C c.1175A>C (p.Asp392Ala) c.1184A>C (p.Asp395Ala) n.501A>C c.*1054A>C (n.*1054A>C) c.471+254A>C (n.471+254A>C) c.524A>C (p.Asp175Ala) | |
| 11 | g.1753549T= | CA1947825109 | CTSD | c.1193A= (p.Asp398=) c.1088A= (p.Asp363=) c.618A= c.*359A= (n.*359A=) c.1310A= (p.Asp437=) c.1071+254A= (n.1071+254A=) c.1172A= (p.Asp391=) c.72+254A= (n.72+254A=) c.1187A= (p.Asp396=) n.791A= n.3621A= c.1175A= (p.Asp392=) c.1184A= (p.Asp395=) n.501A= c.*1054A= (n.*1054A=) c.471+254A= (n.471+254A=) c.524A= (p.Asp175=) | |
| 11 | g.1753550C>A | CA379092397 | CTSD | c.1192G>T (p.Asp398Tyr) c.1087G>T (p.Asp363Tyr) c.617G>T c.*358G>T (n.*358G>T) c.1309G>T (p.Asp437Tyr) c.1071+253G>T (n.1071+253G>T) c.1171G>T (p.Asp391Tyr) c.72+253G>T (n.72+253G>T) c.1186G>T (p.Asp396Tyr) n.790G>T n.3620G>T c.1174G>T (p.Asp392Tyr) c.1183G>T (p.Asp395Tyr) n.500G>T c.*1053G>T (n.*1053G>T) c.471+253G>T (n.471+253G>T) c.523G>T (p.Asp175Tyr) | |
| 11 | g.1753550C>G | CA379092398 | CTSD | c.1192G>C (p.Asp398His) c.1087G>C (p.Asp363His) c.617G>C c.*358G>C (n.*358G>C) c.1309G>C (p.Asp437His) c.1071+253G>C (n.1071+253G>C) c.1171G>C (p.Asp391His) c.72+253G>C (n.72+253G>C) c.1186G>C (p.Asp396His) n.790G>C n.3620G>C c.1174G>C (p.Asp392His) c.1183G>C (p.Asp395His) n.500G>C c.*1053G>C (n.*1053G>C) c.471+253G>C (n.471+253G>C) c.523G>C (p.Asp175His) | |
| 11 | g.1753550C>T | CA379092399 | CTSD | c.1192G>A (p.Asp398Asn) c.1087G>A (p.Asp363Asn) c.617G>A c.*358G>A (n.*358G>A) c.1309G>A (p.Asp437Asn) c.1071+253G>A (n.1071+253G>A) c.1171G>A (p.Asp391Asn) c.72+253G>A (n.72+253G>A) c.1186G>A (p.Asp396Asn) n.790G>A n.3620G>A c.1174G>A (p.Asp392Asn) c.1183G>A (p.Asp395Asn) n.500G>A c.*1053G>A (n.*1053G>A) c.471+253G>A (n.471+253G>A) c.523G>A (p.Asp175Asn) | |
| 11 | g.1753551A>C | CA379092400 | CTSD | c.1191T>G (p.Phe397Leu) c.1086T>G (p.Phe362Leu) c.616T>G c.*357T>G (n.*357T>G) c.1308T>G (p.Phe436Leu) c.1071+252T>G (n.1071+252T>G) c.1170T>G (p.Phe390Leu) c.72+252T>G (n.72+252T>G) c.1185T>G (p.Phe395Leu) n.789T>G n.3619T>G c.1173T>G (p.Phe391Leu) c.1182T>G (p.Phe394Leu) n.499T>G c.*1052T>G (n.*1052T>G) c.471+252T>G (n.471+252T>G) c.522T>G (p.Phe174Leu) | |
| 11 | g.1753551A>G | CA472139738 | CTSD | c.1191T>C (p.Phe397=) c.1086T>C (p.Phe362=) c.616T>C c.*357T>C (n.*357T>C) c.1308T>C (p.Phe436=) c.1071+252T>C (n.1071+252T>C) c.1170T>C (p.Phe390=) c.72+252T>C (n.72+252T>C) c.1185T>C (p.Phe395=) n.789T>C n.3619T>C c.1173T>C (p.Phe391=) c.1182T>C (p.Phe394=) n.499T>C c.*1052T>C (n.*1052T>C) c.471+252T>C (n.471+252T>C) c.522T>C (p.Phe174=) | |
| 11 | g.1753551A>T | CA379092401 | CTSD | c.1191T>A (p.Phe397Leu) c.1086T>A (p.Phe362Leu) c.616T>A c.*357T>A (n.*357T>A) c.1308T>A (p.Phe436Leu) c.1071+252T>A (n.1071+252T>A) c.1170T>A (p.Phe390Leu) c.72+252T>A (n.72+252T>A) c.1185T>A (p.Phe395Leu) n.789T>A n.3619T>A c.1173T>A (p.Phe391Leu) c.1182T>A (p.Phe394Leu) n.499T>A c.*1052T>A (n.*1052T>A) c.471+252T>A (n.471+252T>A) c.522T>A (p.Phe174Leu) | |
| 11 | g.1753552A>C | CA379092402 | CTSD | c.1190T>G (p.Phe397Cys) c.1085T>G (p.Phe362Cys) c.615T>G c.*356T>G (n.*356T>G) c.1307T>G (p.Phe436Cys) c.1071+251T>G (n.1071+251T>G) c.1169T>G (p.Phe390Cys) c.72+251T>G (n.72+251T>G) c.1184T>G (p.Phe395Cys) n.788T>G n.3618T>G c.1172T>G (p.Phe391Cys) c.1181T>G (p.Phe394Cys) n.498T>G c.*1051T>G (n.*1051T>G) c.471+251T>G (n.471+251T>G) c.521T>G (p.Phe174Cys) | |
| 11 | g.1753552A>G | CA379092403 | CTSD | c.1190T>C (p.Phe397Ser) c.1085T>C (p.Phe362Ser) c.615T>C c.*356T>C (n.*356T>C) c.1307T>C (p.Phe436Ser) c.1071+251T>C (n.1071+251T>C) c.1169T>C (p.Phe390Ser) c.72+251T>C (n.72+251T>C) c.1184T>C (p.Phe395Ser) n.788T>C n.3618T>C c.1172T>C (p.Phe391Ser) c.1181T>C (p.Phe394Ser) n.498T>C c.*1051T>C (n.*1051T>C) c.471+251T>C (n.471+251T>C) c.521T>C (p.Phe174Ser) | |
| 11 | g.1753552A>T | CA379092404 | CTSD | c.1190T>A (p.Phe397Tyr) c.1085T>A (p.Phe362Tyr) c.615T>A c.*356T>A (n.*356T>A) c.1307T>A (p.Phe436Tyr) c.1071+251T>A (n.1071+251T>A) c.1169T>A (p.Phe390Tyr) c.72+251T>A (n.72+251T>A) c.1184T>A (p.Phe395Tyr) n.788T>A n.3618T>A c.1172T>A (p.Phe391Tyr) c.1181T>A (p.Phe394Tyr) n.498T>A c.*1051T>A (n.*1051T>A) c.471+251T>A (n.471+251T>A) c.521T>A (p.Phe174Tyr) | |
| 11 | g.1753552_1753554delinsAAC | CA1947825110 | CTSD | c.1188_1190delinsGTT (p.Val396=) c.1083_1085delinsGTT (p.Val361=) c.613_615delinsGTT c.*354_*356delinsGTT (n.*354_*356delinsGTT) c.1305_1307delinsGTT (p.Val435=) c.1071+249_1071+251delinsGTT (n.1071+249_1071+251delinsGTT) c.1167_1169delinsGTT (p.Val389=) c.72+249_72+251delinsGTT (n.72+249_72+251delinsGTT) c.1182_1184delinsGTT (p.Val394=) n.786_788delinsGTT n.3616_3618delinsGTT c.1170_1172delinsGTT (p.Val390=) c.1179_1181delinsGTT (p.Val393=) n.496_498delinsGTT c.*1049_*1051delinsGTT (n.*1049_*1051delinsGTT) c.471+249_471+251delinsGTT (n.471+249_471+251delinsGTT) c.519_521delinsGTT (p.Val173=) | |
| 11 | g.1753553A>C | CA379092405 | CTSD | c.1189T>G (p.Phe397Val) c.1084T>G (p.Phe362Val) c.614T>G c.*355T>G (n.*355T>G) c.1306T>G (p.Phe436Val) c.1071+250T>G (n.1071+250T>G) c.1168T>G (p.Phe390Val) c.72+250T>G (n.72+250T>G) c.1183T>G (p.Phe395Val) n.787T>G n.3617T>G c.1171T>G (p.Phe391Val) c.1180T>G (p.Phe394Val) n.497T>G c.*1050T>G (n.*1050T>G) c.471+250T>G (n.471+250T>G) c.520T>G (p.Phe174Val) | |
| 11 | g.1753553A>G | CA379092406 | CTSD | c.1189T>C (p.Phe397Leu) c.1084T>C (p.Phe362Leu) c.614T>C c.*355T>C (n.*355T>C) c.1306T>C (p.Phe436Leu) c.1071+250T>C (n.1071+250T>C) c.1168T>C (p.Phe390Leu) c.72+250T>C (n.72+250T>C) c.1183T>C (p.Phe395Leu) n.787T>C n.3617T>C c.1171T>C (p.Phe391Leu) c.1180T>C (p.Phe394Leu) n.497T>C c.*1050T>C (n.*1050T>C) c.471+250T>C (n.471+250T>C) c.520T>C (p.Phe174Leu) | |
| 11 | g.1753553A>T | CA379092407 | CTSD | c.1189T>A (p.Phe397Ile) c.1084T>A (p.Phe362Ile) c.614T>A c.*355T>A (n.*355T>A) c.1306T>A (p.Phe436Ile) c.1071+250T>A (n.1071+250T>A) c.1168T>A (p.Phe390Ile) c.72+250T>A (n.72+250T>A) c.1183T>A (p.Phe395Ile) n.787T>A n.3617T>A c.1171T>A (p.Phe391Ile) c.1180T>A (p.Phe394Ile) n.497T>A c.*1050T>A (n.*1050T>A) c.471+250T>A (n.471+250T>A) c.520T>A (p.Phe174Ile) | |
| 11 | g.1753556_1753557del | CA597430604 | CTSD | c.1188_1189del (p.Phe397Ter) c.1083_1084del (p.Phe362Ter) c.613_614del c.*354_*355del (n.*354_*355del) c.1305_1306del (p.Phe436Ter) c.1071+249_1071+250del (n.1071+249_1071+250del) c.1167_1168del (p.Phe390Ter) c.72+249_72+250del (n.72+249_72+250del) c.1182_1183del (p.Phe395Ter) n.786_787del n.3616_3617del c.1170_1171del (p.Phe391Ter) c.1179_1180del (p.Phe394Ter) n.496_497del c.*1049_*1050del (n.*1049_*1050del) c.471+249_471+250del (n.471+249_471+250del) c.519_520del (p.Phe174Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753554C>A | CA472139756 | CTSD | c.1188G>T (p.Val396=) c.1083G>T (p.Val361=) c.613G>T c.*354G>T (n.*354G>T) c.1305G>T (p.Val435=) c.1071+249G>T (n.1071+249G>T) c.1167G>T (p.Val389=) c.72+249G>T (n.72+249G>T) c.1182G>T (p.Val394=) n.786G>T n.3616G>T c.1170G>T (p.Val390=) c.1179G>T (p.Val393=) n.496G>T c.*1049G>T (n.*1049G>T) c.471+249G>T (n.471+249G>T) c.519G>T (p.Val173=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753554C= | CA1947825111 | CTSD | c.1188G= (p.Val396=) c.1083G= (p.Val361=) c.613G= c.*354G= (n.*354G=) c.1305G= (p.Val435=) c.1071+249G= (n.1071+249G=) c.1167G= (p.Val389=) c.72+249G= (n.72+249G=) c.1182G= (p.Val394=) n.786G= n.3616G= c.1170G= (p.Val390=) c.1179G= (p.Val393=) n.496G= c.*1049G= (n.*1049G=) c.471+249G= (n.471+249G=) c.519G= (p.Val173=) | |
| 11 | g.1753554C>G | CA472139752 | CTSD | c.1188G>C (p.Val396=) c.1083G>C (p.Val361=) c.613G>C c.*354G>C (n.*354G>C) c.1305G>C (p.Val435=) c.1071+249G>C (n.1071+249G>C) c.1167G>C (p.Val389=) c.72+249G>C (n.72+249G>C) c.1182G>C (p.Val394=) n.786G>C n.3616G>C c.1170G>C (p.Val390=) c.1179G>C (p.Val393=) n.496G>C c.*1049G>C (n.*1049G>C) c.471+249G>C (n.471+249G>C) c.519G>C (p.Val173=) | gnomAD v4 |
| 11 | g.1753554C>T | CA472139754 | CTSD | c.1188G>A (p.Val396=) c.1083G>A (p.Val361=) c.613G>A c.*354G>A (n.*354G>A) c.1305G>A (p.Val435=) c.1071+249G>A (n.1071+249G>A) c.1167G>A (p.Val389=) c.72+249G>A (n.72+249G>A) c.1182G>A (p.Val394=) n.786G>A n.3616G>A c.1170G>A (p.Val390=) c.1179G>A (p.Val393=) n.496G>A c.*1049G>A (n.*1049G>A) c.471+249G>A (n.471+249G>A) c.519G>A (p.Val173=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753561_1753562insCAATCACAGTGT | CA2574736127 | CTSD | c.1188_1189insATTGACACTGTG (p.Val396_Phe397insIleAspThrVal) c.1083_1084insATTGACACTGTG (p.Val361_Phe362insIleAspThrVal) c.613_614insATTGACACTGTG c.*354_*355insATTGACACTGTG (n.*354_*355insATTGACACTGTG) c.1305_1306insATTGACACTGTG (p.Val435_Phe436insIleAspThrVal) c.1071+249_1071+250insATTGACACTGTG (n.1071+249_1071+250insATTGACACTGTG) c.1167_1168insATTGACACTGTG (p.Val389_Phe390insIleAspThrVal) c.72+249_72+250insATTGACACTGTG (n.72+249_72+250insATTGACACTGTG) c.1182_1183insATTGACACTGTG (p.Val394_Phe395insIleAspThrVal) n.786_787insATTGACACTGTG n.3616_3617insATTGACACTGTG c.1170_1171insATTGACACTGTG (p.Val390_Phe391insIleAspThrVal) c.1179_1180insATTGACACTGTG (p.Val393_Phe394insIleAspThrVal) n.496_497insATTGACACTGTG c.*1049_*1050insATTGACACTGTG (n.*1049_*1050insATTGACACTGTG) c.471+249_471+250insATTGACACTGTG (n.471+249_471+250insATTGACACTGTG) c.519_520insATTGACACTGTG (p.Val173_Phe174insIleAspThrVal) | |
| 11 | g.1753555A>C | CA379092410 | CTSD | c.1187T>G (p.Val396Gly) c.1082T>G (p.Val361Gly) c.612T>G c.*353T>G (n.*353T>G) c.1304T>G (p.Val435Gly) c.1071+248T>G (n.1071+248T>G) c.1166T>G (p.Val389Gly) c.72+248T>G (n.72+248T>G) c.1181T>G (p.Val394Gly) n.785T>G n.3615T>G c.1169T>G (p.Val390Gly) c.1178T>G (p.Val393Gly) n.495T>G c.*1048T>G (n.*1048T>G) c.471+248T>G (n.471+248T>G) c.518T>G (p.Val173Gly) | |
| 11 | g.1753555A>G | CA379092409 | CTSD | c.1187T>C (p.Val396Ala) c.1082T>C (p.Val361Ala) c.612T>C c.*353T>C (n.*353T>C) c.1304T>C (p.Val435Ala) c.1071+248T>C (n.1071+248T>C) c.1166T>C (p.Val389Ala) c.72+248T>C (n.72+248T>C) c.1181T>C (p.Val394Ala) n.785T>C n.3615T>C c.1169T>C (p.Val390Ala) c.1178T>C (p.Val393Ala) n.495T>C c.*1048T>C (n.*1048T>C) c.471+248T>C (n.471+248T>C) c.518T>C (p.Val173Ala) | |
| 11 | g.1753555A>T | CA379092408 | CTSD | c.1187T>A (p.Val396Glu) c.1082T>A (p.Val361Glu) c.612T>A c.*353T>A (n.*353T>A) c.1304T>A (p.Val435Glu) c.1071+248T>A (n.1071+248T>A) c.1166T>A (p.Val389Glu) c.72+248T>A (n.72+248T>A) c.1181T>A (p.Val394Glu) n.785T>A n.3615T>A c.1169T>A (p.Val390Glu) c.1178T>A (p.Val393Glu) n.495T>A c.*1048T>A (n.*1048T>A) c.471+248T>A (n.471+248T>A) c.518T>A (p.Val173Glu) | |
| 11 | g.1753556C>A | CA379092411 | CTSD | c.1186G>T (p.Val396Leu) c.1081G>T (p.Val361Leu) c.611G>T c.*352G>T (n.*352G>T) c.1303G>T (p.Val435Leu) c.1071+247G>T (n.1071+247G>T) c.1165G>T (p.Val389Leu) c.72+247G>T (n.72+247G>T) c.1180G>T (p.Val394Leu) n.784G>T n.3614G>T c.1168G>T (p.Val390Leu) c.1177G>T (p.Val393Leu) n.494G>T c.*1047G>T (n.*1047G>T) c.471+247G>T (n.471+247G>T) c.517G>T (p.Val173Leu) | |
| 11 | g.1753556C>G | CA379092412 | CTSD | c.1186G>C (p.Val396Leu) c.1081G>C (p.Val361Leu) c.611G>C c.*352G>C (n.*352G>C) c.1303G>C (p.Val435Leu) c.1071+247G>C (n.1071+247G>C) c.1165G>C (p.Val389Leu) c.72+247G>C (n.72+247G>C) c.1180G>C (p.Val394Leu) n.784G>C n.3614G>C c.1168G>C (p.Val390Leu) c.1177G>C (p.Val393Leu) n.494G>C c.*1047G>C (n.*1047G>C) c.471+247G>C (n.471+247G>C) c.517G>C (p.Val173Leu) | |
| 11 | g.1753556C>T | CA379092413 | CTSD | c.1186G>A (p.Val396Met) c.1081G>A (p.Val361Met) c.611G>A c.*352G>A (n.*352G>A) c.1303G>A (p.Val435Met) c.1071+247G>A (n.1071+247G>A) c.1165G>A (p.Val389Met) c.72+247G>A (n.72+247G>A) c.1180G>A (p.Val394Met) n.784G>A n.3614G>A c.1168G>A (p.Val390Met) c.1177G>A (p.Val393Met) n.494G>A c.*1047G>A (n.*1047G>A) c.471+247G>A (n.471+247G>A) c.517G>A (p.Val173Met) | |
| 11 | g.1753557A= | CA1947825112 | CTSD | c.1185T= (p.Thr395=) c.1080T= (p.Thr360=) c.610T= c.*351T= (n.*351T=) c.1302T= (p.Thr434=) c.1071+246T= (n.1071+246T=) c.1164T= (p.Thr388=) c.72+246T= (n.72+246T=) c.1179T= (p.Thr393=) n.783T= n.3613T= c.1167T= (p.Thr389=) c.1176T= (p.Thr392=) n.493T= c.*1046T= (n.*1046T=) c.471+246T= (n.471+246T=) c.516T= (p.Thr172=) | |
| 11 | g.1753557A>C | CA472139769 | CTSD | c.1185T>G (p.Thr395=) c.1080T>G (p.Thr360=) c.610T>G c.*351T>G (n.*351T>G) c.1302T>G (p.Thr434=) c.1071+246T>G (n.1071+246T>G) c.1164T>G (p.Thr388=) c.72+246T>G (n.72+246T>G) c.1179T>G (p.Thr393=) n.783T>G n.3613T>G c.1167T>G (p.Thr389=) c.1176T>G (p.Thr392=) n.493T>G c.*1046T>G (n.*1046T>G) c.471+246T>G (n.471+246T>G) c.516T>G (p.Thr172=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1753557A>G | CA472139772 | CTSD | c.1185T>C (p.Thr395=) c.1080T>C (p.Thr360=) c.610T>C c.*351T>C (n.*351T>C) c.1302T>C (p.Thr434=) c.1071+246T>C (n.1071+246T>C) c.1164T>C (p.Thr388=) c.72+246T>C (n.72+246T>C) c.1179T>C (p.Thr393=) n.783T>C n.3613T>C c.1167T>C (p.Thr389=) c.1176T>C (p.Thr392=) n.493T>C c.*1046T>C (n.*1046T>C) c.471+246T>C (n.471+246T>C) c.516T>C (p.Thr172=) | ClinVar gnomAD v4 |
| 11 | g.1753557A>T | CA472139771 | CTSD | c.1185T>A (p.Thr395=) c.1080T>A (p.Thr360=) c.610T>A c.*351T>A (n.*351T>A) c.1302T>A (p.Thr434=) c.1071+246T>A (n.1071+246T>A) c.1164T>A (p.Thr388=) c.72+246T>A (n.72+246T>A) c.1179T>A (p.Thr393=) n.783T>A n.3613T>A c.1167T>A (p.Thr389=) c.1176T>A (p.Thr392=) n.493T>A c.*1046T>A (n.*1046T>A) c.471+246T>A (n.471+246T>A) c.516T>A (p.Thr172=) | gnomAD v4 |
| 11 | g.1753558G>A | CA379092414 | CTSD | c.1184C>T (p.Thr395Ile) c.1079C>T (p.Thr360Ile) c.609C>T c.*350C>T (n.*350C>T) c.1301C>T (p.Thr434Ile) c.1071+245C>T (n.1071+245C>T) c.1163C>T (p.Thr388Ile) c.72+245C>T (n.72+245C>T) c.1178C>T (p.Thr393Ile) n.782C>T n.3612C>T c.1166C>T (p.Thr389Ile) c.1175C>T (p.Thr392Ile) n.492C>T c.*1045C>T (n.*1045C>T) c.471+245C>T (n.471+245C>T) c.515C>T (p.Thr172Ile) | |
| 11 | g.1753558G>C | CA379092415 | CTSD | c.1184C>G (p.Thr395Ser) c.1079C>G (p.Thr360Ser) c.609C>G c.*350C>G (n.*350C>G) c.1301C>G (p.Thr434Ser) c.1071+245C>G (n.1071+245C>G) c.1163C>G (p.Thr388Ser) c.72+245C>G (n.72+245C>G) c.1178C>G (p.Thr393Ser) n.782C>G n.3612C>G c.1166C>G (p.Thr389Ser) c.1175C>G (p.Thr392Ser) n.492C>G c.*1045C>G (n.*1045C>G) c.471+245C>G (n.471+245C>G) c.515C>G (p.Thr172Ser) | |
| 11 | g.1753558G>T | CA379092416 | CTSD | c.1184C>A (p.Thr395Asn) c.1079C>A (p.Thr360Asn) c.609C>A c.*350C>A (n.*350C>A) c.1301C>A (p.Thr434Asn) c.1071+245C>A (n.1071+245C>A) c.1163C>A (p.Thr388Asn) c.72+245C>A (n.72+245C>A) c.1178C>A (p.Thr393Asn) n.782C>A n.3612C>A c.1166C>A (p.Thr389Asn) c.1175C>A (p.Thr392Asn) n.492C>A c.*1045C>A (n.*1045C>A) c.471+245C>A (n.471+245C>A) c.515C>A (p.Thr172Asn) | |
| 11 | g.1753559T>A | CA379092418 | CTSD | c.1183A>T (p.Thr395Ser) c.1078A>T (p.Thr360Ser) c.608A>T c.*349A>T (n.*349A>T) c.1300A>T (p.Thr434Ser) c.1071+244A>T (n.1071+244A>T) c.1162A>T (p.Thr388Ser) c.72+244A>T (n.72+244A>T) c.1177A>T (p.Thr393Ser) n.781A>T n.3611A>T c.1165A>T (p.Thr389Ser) c.1174A>T (p.Thr392Ser) n.491A>T c.*1044A>T (n.*1044A>T) c.471+244A>T (n.471+244A>T) c.514A>T (p.Thr172Ser) | gnomAD v4 |
| 11 | g.1753559T>C | CA5813878 | CTSD | c.1183A>G (p.Thr395Ala) c.1078A>G (p.Thr360Ala) c.608A>G c.*349A>G (n.*349A>G) c.1300A>G (p.Thr434Ala) c.1071+244A>G (n.1071+244A>G) c.1162A>G (p.Thr388Ala) c.72+244A>G (n.72+244A>G) c.1177A>G (p.Thr393Ala) n.781A>G n.3611A>G c.1165A>G (p.Thr389Ala) c.1174A>G (p.Thr392Ala) n.491A>G c.*1044A>G (n.*1044A>G) c.471+244A>G (n.471+244A>G) c.514A>G (p.Thr172Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753559T>G | CA379092417 | CTSD | c.1183A>C (p.Thr395Pro) c.1078A>C (p.Thr360Pro) c.608A>C c.*349A>C (n.*349A>C) c.1300A>C (p.Thr434Pro) c.1071+244A>C (n.1071+244A>C) c.1162A>C (p.Thr388Pro) c.72+244A>C (n.72+244A>C) c.1177A>C (p.Thr393Pro) n.781A>C n.3611A>C c.1165A>C (p.Thr389Pro) c.1174A>C (p.Thr392Pro) n.491A>C c.*1044A>C (n.*1044A>C) c.471+244A>C (n.471+244A>C) c.514A>C (p.Thr172Pro) | |
| 11 | g.1753559T= | CA1947825113 | CTSD | c.1183A= (p.Thr395=) c.1078A= (p.Thr360=) c.608A= c.*349A= (n.*349A=) c.1300A= (p.Thr434=) c.1071+244A= (n.1071+244A=) c.1162A= (p.Thr388=) c.72+244A= (n.72+244A=) c.1177A= (p.Thr393=) n.781A= n.3611A= c.1165A= (p.Thr389=) c.1174A= (p.Thr392=) n.491A= c.*1044A= (n.*1044A=) c.471+244A= (n.471+244A=) c.514A= (p.Thr172=) | |
| 11 | g.1753560G>A | CA216168559 | CTSD | c.1182C>T (p.Tyr394=) c.1077C>T (p.Tyr359=) c.607C>T c.*348C>T (n.*348C>T) c.1299C>T (p.Tyr433=) c.1071+243C>T (n.1071+243C>T) c.1161C>T (p.Tyr387=) c.72+243C>T (n.72+243C>T) c.1176C>T (p.Tyr392=) n.780C>T n.3610C>T c.1164C>T (p.Tyr388=) c.1173C>T (p.Tyr391=) n.490C>T c.*1043C>T (n.*1043C>T) c.471+243C>T (n.471+243C>T) c.513C>T (p.Tyr171=) | ClinVar dbSNP |
| 11 | g.1753560G>C | CA379092420 | CTSD | c.1182C>G (p.Tyr394Ter) c.1077C>G (p.Tyr359Ter) c.607C>G c.*348C>G (n.*348C>G) c.1299C>G (p.Tyr433Ter) c.1071+243C>G (n.1071+243C>G) c.1161C>G (p.Tyr387Ter) c.72+243C>G (n.72+243C>G) c.1176C>G (p.Tyr392Ter) n.780C>G n.3610C>G c.1164C>G (p.Tyr388Ter) c.1173C>G (p.Tyr391Ter) n.490C>G c.*1043C>G (n.*1043C>G) c.471+243C>G (n.471+243C>G) c.513C>G (p.Tyr171Ter) | |
| 11 | g.1753560G= | CA1947825114 | CTSD | c.1182C= (p.Tyr394=) c.1077C= (p.Tyr359=) c.607C= c.*348C= (n.*348C=) c.1299C= (p.Tyr433=) c.1071+243C= (n.1071+243C=) c.1161C= (p.Tyr387=) c.72+243C= (n.72+243C=) c.1176C= (p.Tyr392=) n.780C= n.3610C= c.1164C= (p.Tyr388=) c.1173C= (p.Tyr391=) n.490C= c.*1043C= (n.*1043C=) c.471+243C= (n.471+243C=) c.513C= (p.Tyr171=) | |
| 11 | g.1753560G>T | CA379092421 | CTSD | c.1182C>A (p.Tyr394Ter) c.1077C>A (p.Tyr359Ter) c.607C>A c.*348C>A (n.*348C>A) c.1299C>A (p.Tyr433Ter) c.1071+243C>A (n.1071+243C>A) c.1161C>A (p.Tyr387Ter) c.72+243C>A (n.72+243C>A) c.1176C>A (p.Tyr392Ter) n.780C>A n.3610C>A c.1164C>A (p.Tyr388Ter) c.1173C>A (p.Tyr391Ter) n.490C>A c.*1043C>A (n.*1043C>A) c.471+243C>A (n.471+243C>A) c.513C>A (p.Tyr171Ter) | |
| 11 | g.1753561T>A | CA379092422 | CTSD | c.1181A>T (p.Tyr394Phe) c.1076A>T (p.Tyr359Phe) c.606A>T c.*347A>T (n.*347A>T) c.1298A>T (p.Tyr433Phe) c.1071+242A>T (n.1071+242A>T) c.1160A>T (p.Tyr387Phe) c.72+242A>T (n.72+242A>T) c.1175A>T (p.Tyr392Phe) n.779A>T n.3609A>T c.1163A>T (p.Tyr388Phe) c.1172A>T (p.Tyr391Phe) n.489A>T c.*1042A>T (n.*1042A>T) c.471+242A>T (n.471+242A>T) c.512A>T (p.Tyr171Phe) | |
| 11 | g.1753561T>C | CA379092423 | CTSD | c.1181A>G (p.Tyr394Cys) c.1076A>G (p.Tyr359Cys) c.606A>G c.*347A>G (n.*347A>G) c.1298A>G (p.Tyr433Cys) c.1071+242A>G (n.1071+242A>G) c.1160A>G (p.Tyr387Cys) c.72+242A>G (n.72+242A>G) c.1175A>G (p.Tyr392Cys) n.779A>G n.3609A>G c.1163A>G (p.Tyr388Cys) c.1172A>G (p.Tyr391Cys) n.489A>G c.*1042A>G (n.*1042A>G) c.471+242A>G (n.471+242A>G) c.512A>G (p.Tyr171Cys) | gnomAD v4 |
| 11 | g.1753561T>G | CA379092424 | CTSD | c.1181A>C (p.Tyr394Ser) c.1076A>C (p.Tyr359Ser) c.606A>C c.*347A>C (n.*347A>C) c.1298A>C (p.Tyr433Ser) c.1071+242A>C (n.1071+242A>C) c.1160A>C (p.Tyr387Ser) c.72+242A>C (n.72+242A>C) c.1175A>C (p.Tyr392Ser) n.779A>C n.3609A>C c.1163A>C (p.Tyr388Ser) c.1172A>C (p.Tyr391Ser) n.489A>C c.*1042A>C (n.*1042A>C) c.471+242A>C (n.471+242A>C) c.512A>C (p.Tyr171Ser) | |
| 11 | g.1753562A>C | CA379092425 | CTSD | c.1180T>G (p.Tyr394Asp) c.1075T>G (p.Tyr359Asp) c.605T>G c.*346T>G (n.*346T>G) c.1297T>G (p.Tyr433Asp) c.1071+241T>G (n.1071+241T>G) c.1159T>G (p.Tyr387Asp) c.72+241T>G (n.72+241T>G) c.1174T>G (p.Tyr392Asp) n.778T>G n.3608T>G c.1162T>G (p.Tyr388Asp) c.1171T>G (p.Tyr391Asp) n.488T>G c.*1041T>G (n.*1041T>G) c.471+241T>G (n.471+241T>G) c.511T>G (p.Tyr171Asp) | |
| 11 | g.1753562A>G | CA379092427 | CTSD | c.1180T>C (p.Tyr394His) c.1075T>C (p.Tyr359His) c.605T>C c.*346T>C (n.*346T>C) c.1297T>C (p.Tyr433His) c.1071+241T>C (n.1071+241T>C) c.1159T>C (p.Tyr387His) c.72+241T>C (n.72+241T>C) c.1174T>C (p.Tyr392His) n.778T>C n.3608T>C c.1162T>C (p.Tyr388His) c.1171T>C (p.Tyr391His) n.488T>C c.*1041T>C (n.*1041T>C) c.471+241T>C (n.471+241T>C) c.511T>C (p.Tyr171His) | |
| 11 | g.1753562A>T | CA379092426 | CTSD | c.1180T>A (p.Tyr394Asn) c.1075T>A (p.Tyr359Asn) c.605T>A c.*346T>A (n.*346T>A) c.1297T>A (p.Tyr433Asn) c.1071+241T>A (n.1071+241T>A) c.1159T>A (p.Tyr387Asn) c.72+241T>A (n.72+241T>A) c.1174T>A (p.Tyr392Asn) n.778T>A n.3608T>A c.1162T>A (p.Tyr388Asn) c.1171T>A (p.Tyr391Asn) n.488T>A c.*1041T>A (n.*1041T>A) c.471+241T>A (n.471+241T>A) c.511T>A (p.Tyr171Asn) | gnomAD v4 |
| 11 | g.1753563G>A | CA472139809 | CTSD | c.1179C>T (p.Tyr393=) c.1074C>T (p.Tyr358=) c.604C>T c.*345C>T (n.*345C>T) c.1296C>T (p.Tyr432=) c.1071+240C>T (n.1071+240C>T) c.1158C>T (p.Tyr386=) c.72+240C>T (n.72+240C>T) c.1173C>T (p.Tyr391=) n.777C>T n.3607C>T c.1161C>T (p.Tyr387=) c.1170C>T (p.Tyr390=) n.487C>T c.*1040C>T (n.*1040C>T) c.471+240C>T (n.471+240C>T) c.510C>T (p.Tyr170=) | |
| 11 | g.1753563G>C | CA379092428 | CTSD | c.1179C>G (p.Tyr393Ter) c.1074C>G (p.Tyr358Ter) c.604C>G c.*345C>G (n.*345C>G) c.1296C>G (p.Tyr432Ter) c.1071+240C>G (n.1071+240C>G) c.1158C>G (p.Tyr386Ter) c.72+240C>G (n.72+240C>G) c.1173C>G (p.Tyr391Ter) n.777C>G n.3607C>G c.1161C>G (p.Tyr387Ter) c.1170C>G (p.Tyr390Ter) n.487C>G c.*1040C>G (n.*1040C>G) c.471+240C>G (n.471+240C>G) c.510C>G (p.Tyr170Ter) | |
| 11 | g.1753563G>T | CA379092429 | CTSD | c.1179C>A (p.Tyr393Ter) c.1074C>A (p.Tyr358Ter) c.604C>A c.*345C>A (n.*345C>A) c.1296C>A (p.Tyr432Ter) c.1071+240C>A (n.1071+240C>A) c.1158C>A (p.Tyr386Ter) c.72+240C>A (n.72+240C>A) c.1173C>A (p.Tyr391Ter) n.777C>A n.3607C>A c.1161C>A (p.Tyr387Ter) c.1170C>A (p.Tyr390Ter) n.487C>A c.*1040C>A (n.*1040C>A) c.471+240C>A (n.471+240C>A) c.510C>A (p.Tyr170Ter) | |
| 11 | g.1753564T>A | CA379092431 | CTSD | c.1178A>T (p.Tyr393Phe) c.1073A>T (p.Tyr358Phe) c.603A>T c.*344A>T (n.*344A>T) c.1295A>T (p.Tyr432Phe) c.1071+239A>T (n.1071+239A>T) c.1157A>T (p.Tyr386Phe) c.72+239A>T (n.72+239A>T) c.1172A>T (p.Tyr391Phe) n.776A>T n.3606A>T c.1160A>T (p.Tyr387Phe) c.1169A>T (p.Tyr390Phe) n.486A>T c.*1039A>T (n.*1039A>T) c.471+239A>T (n.471+239A>T) c.509A>T (p.Tyr170Phe) | |
| 11 | g.1753564T>C | CA379092432 | CTSD | c.1178A>G (p.Tyr393Cys) c.1073A>G (p.Tyr358Cys) c.603A>G c.*344A>G (n.*344A>G) c.1295A>G (p.Tyr432Cys) c.1071+239A>G (n.1071+239A>G) c.1157A>G (p.Tyr386Cys) c.72+239A>G (n.72+239A>G) c.1172A>G (p.Tyr391Cys) n.776A>G n.3606A>G c.1160A>G (p.Tyr387Cys) c.1169A>G (p.Tyr390Cys) n.486A>G c.*1039A>G (n.*1039A>G) c.471+239A>G (n.471+239A>G) c.509A>G (p.Tyr170Cys) | COSMIC |
| 11 | g.1753564T>G | CA379092433 | CTSD | c.1178A>C (p.Tyr393Ser) c.1073A>C (p.Tyr358Ser) c.603A>C c.*344A>C (n.*344A>C) c.1295A>C (p.Tyr432Ser) c.1071+239A>C (n.1071+239A>C) c.1157A>C (p.Tyr386Ser) c.72+239A>C (n.72+239A>C) c.1172A>C (p.Tyr391Ser) n.776A>C n.3606A>C c.1160A>C (p.Tyr387Ser) c.1169A>C (p.Tyr390Ser) n.486A>C c.*1039A>C (n.*1039A>C) c.471+239A>C (n.471+239A>C) c.509A>C (p.Tyr170Ser) | |
| 11 | g.1753565A>C | CA379092434 | CTSD | c.1177T>G (p.Tyr393Asp) c.1072T>G (p.Tyr358Asp) c.602T>G c.*343T>G (n.*343T>G) c.1294T>G (p.Tyr432Asp) c.1071+238T>G (n.1071+238T>G) c.1156T>G (p.Tyr386Asp) c.72+238T>G (n.72+238T>G) c.1171T>G (p.Tyr391Asp) n.775T>G n.3605T>G c.1159T>G (p.Tyr387Asp) c.1168T>G (p.Tyr390Asp) n.485T>G c.*1038T>G (n.*1038T>G) c.471+238T>G (n.471+238T>G) c.508T>G (p.Tyr170Asp) | |
| 11 | g.1753565A>G | CA379092435 | CTSD | c.1177T>C (p.Tyr393His) c.1072T>C (p.Tyr358His) c.602T>C c.*343T>C (n.*343T>C) c.1294T>C (p.Tyr432His) c.1071+238T>C (n.1071+238T>C) c.1156T>C (p.Tyr386His) c.72+238T>C (n.72+238T>C) c.1171T>C (p.Tyr391His) n.775T>C n.3605T>C c.1159T>C (p.Tyr387His) c.1168T>C (p.Tyr390His) n.485T>C c.*1038T>C (n.*1038T>C) c.471+238T>C (n.471+238T>C) c.508T>C (p.Tyr170His) | |
| 11 | g.1753565A>T | CA379092436 | CTSD | c.1177T>A (p.Tyr393Asn) c.1072T>A (p.Tyr358Asn) c.602T>A c.*343T>A (n.*343T>A) c.1294T>A (p.Tyr432Asn) c.1071+238T>A (n.1071+238T>A) c.1156T>A (p.Tyr386Asn) c.72+238T>A (n.72+238T>A) c.1171T>A (p.Tyr391Asn) n.775T>A n.3605T>A c.1159T>A (p.Tyr387Asn) c.1168T>A (p.Tyr390Asn) n.485T>A c.*1038T>A (n.*1038T>A) c.471+238T>A (n.471+238T>A) c.508T>A (p.Tyr170Asn) | |
| 11 | g.1753565_1753567delinsAGC | CA1947825115 | CTSD | c.1175_1177delinsGCT (p.Arg392=) c.1070_1072delinsGCT (p.Arg357=) c.600_602delinsGCT c.*341_*343delinsGCT (n.*341_*343delinsGCT) c.1292_1294delinsGCT (p.Arg431=) c.1071+236_1071+238delinsGCT (n.1071+236_1071+238delinsGCT) c.1154_1156delinsGCT (p.Arg385=) c.72+236_72+238delinsGCT (n.72+236_72+238delinsGCT) c.1169_1171delinsGCT (p.Arg390=) n.773_775delinsGCT n.3603_3605delinsGCT c.1157_1159delinsGCT (p.Arg386=) c.1166_1168delinsGCT (p.Arg389=) n.483_485delinsGCT c.*1036_*1038delinsGCT (n.*1036_*1038delinsGCT) c.471+236_471+238delinsGCT (n.471+236_471+238delinsGCT) c.506_508delinsGCT (p.Arg169=) | |
| 11 | g.1753566G>A | CA472139822 | CTSD | c.1176C>T (p.Arg392=) c.1071C>T (p.Arg357=) c.601C>T c.*342C>T (n.*342C>T) c.1293C>T (p.Arg431=) c.1071+237C>T (n.1071+237C>T) c.1155C>T (p.Arg385=) c.72+237C>T (n.72+237C>T) c.1170C>T (p.Arg390=) n.774C>T n.3604C>T c.1158C>T (p.Arg386=) c.1167C>T (p.Arg389=) n.484C>T c.*1037C>T (n.*1037C>T) c.471+237C>T (n.471+237C>T) c.507C>T (p.Arg169=) | |
| 11 | g.1753566G>C | CA472139824 | CTSD | c.1176C>G (p.Arg392=) c.1071C>G (p.Arg357=) c.601C>G c.*342C>G (n.*342C>G) c.1293C>G (p.Arg431=) c.1071+237C>G (n.1071+237C>G) c.1155C>G (p.Arg385=) c.72+237C>G (n.72+237C>G) c.1170C>G (p.Arg390=) n.774C>G n.3604C>G c.1158C>G (p.Arg386=) c.1167C>G (p.Arg389=) n.484C>G c.*1037C>G (n.*1037C>G) c.471+237C>G (n.471+237C>G) c.507C>G (p.Arg169=) | |
| 11 | g.1753566G>T | CA472139826 | CTSD | c.1176C>A (p.Arg392=) c.1071C>A (p.Arg357=) c.601C>A c.*342C>A (n.*342C>A) c.1293C>A (p.Arg431=) c.1071+237C>A (n.1071+237C>A) c.1155C>A (p.Arg385=) c.72+237C>A (n.72+237C>A) c.1170C>A (p.Arg390=) n.774C>A n.3604C>A c.1158C>A (p.Arg386=) c.1167C>A (p.Arg389=) n.484C>A c.*1037C>A (n.*1037C>A) c.471+237C>A (n.471+237C>A) c.507C>A (p.Arg169=) | ClinVar |
| 11 | g.1753567_1753568del | CA918804390 | CTSD | c.1175_1176del (p.Arg392LeufsTer6) c.1070_1071del (p.Arg357LeufsTer6) c.600_601del c.*341_*342del (n.*341_*342del) c.1292_1293del (p.Arg431LeufsTer6) c.1071+236_1071+237del (n.1071+236_1071+237del) c.1154_1155del (p.Arg385LeufsTer6) c.72+236_72+237del (n.72+236_72+237del) c.1169_1170del (p.Arg390LeufsTer6) n.773_774del n.3603_3604del c.1157_1158del (p.Arg386LeufsTer6) c.1166_1167del (p.Arg389LeufsTer6) n.483_484del c.*1036_*1037del (n.*1036_*1037del) c.471+236_471+237del (n.471+236_471+237del) c.506_507del (p.Arg169LeufsTer6) | dbSNP |
| 11 | g.1753567C>A | CA216168582 | CTSD | c.1175G>T (p.Arg392Leu) c.1070G>T (p.Arg357Leu) c.600G>T c.*341G>T (n.*341G>T) c.1292G>T (p.Arg431Leu) c.1071+236G>T (n.1071+236G>T) c.1154G>T (p.Arg385Leu) c.72+236G>T (n.72+236G>T) c.1169G>T (p.Arg390Leu) n.773G>T n.3603G>T c.1157G>T (p.Arg386Leu) c.1166G>T (p.Arg389Leu) n.483G>T c.*1036G>T (n.*1036G>T) c.471+236G>T (n.471+236G>T) c.506G>T (p.Arg169Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1753567C= | CA1947825116 | CTSD | c.1175G= (p.Arg392=) c.1070G= (p.Arg357=) c.600G= c.*341G= (n.*341G=) c.1292G= (p.Arg431=) c.1071+236G= (n.1071+236G=) c.1154G= (p.Arg385=) c.72+236G= (n.72+236G=) c.1169G= (p.Arg390=) n.773G= n.3603G= c.1157G= (p.Arg386=) c.1166G= (p.Arg389=) n.483G= c.*1036G= (n.*1036G=) c.471+236G= (n.471+236G=) c.506G= (p.Arg169=) | |
| 11 | g.1753567C>G | CA379092437 | CTSD | c.1175G>C (p.Arg392Pro) c.1070G>C (p.Arg357Pro) c.600G>C c.*341G>C (n.*341G>C) c.1292G>C (p.Arg431Pro) c.1071+236G>C (n.1071+236G>C) c.1154G>C (p.Arg385Pro) c.72+236G>C (n.72+236G>C) c.1169G>C (p.Arg390Pro) n.773G>C n.3603G>C c.1157G>C (p.Arg386Pro) c.1166G>C (p.Arg389Pro) n.483G>C c.*1036G>C (n.*1036G>C) c.471+236G>C (n.471+236G>C) c.506G>C (p.Arg169Pro) | |
| 11 | g.1753567C>T | CA314332 | CTSD | c.1175G>A (p.Arg392His) c.1070G>A (p.Arg357His) c.600G>A c.*341G>A (n.*341G>A) c.1292G>A (p.Arg431His) c.1071+236G>A (n.1071+236G>A) c.1154G>A (p.Arg385His) c.72+236G>A (n.72+236G>A) c.1169G>A (p.Arg390His) n.773G>A n.3603G>A c.1157G>A (p.Arg386His) c.1166G>A (p.Arg389His) n.483G>A c.*1036G>A (n.*1036G>A) c.471+236G>A (n.471+236G>A) c.506G>A (p.Arg169His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1753568G>A | CA5813879 | CTSD | c.1174C>T (p.Arg392Cys) c.1069C>T (p.Arg357Cys) c.599C>T c.*340C>T (n.*340C>T) c.1291C>T (p.Arg431Cys) c.1071+235C>T (n.1071+235C>T) c.1153C>T (p.Arg385Cys) c.72+235C>T (n.72+235C>T) c.1168C>T (p.Arg390Cys) n.772C>T n.3602C>T c.1156C>T (p.Arg386Cys) c.1165C>T (p.Arg389Cys) n.482C>T c.*1035C>T (n.*1035C>T) c.471+235C>T (n.471+235C>T) c.505C>T (p.Arg169Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.1753568G>C | CA379092439 | CTSD | c.1174C>G (p.Arg392Gly) c.1069C>G (p.Arg357Gly) c.599C>G c.*340C>G (n.*340C>G) c.1291C>G (p.Arg431Gly) c.1071+235C>G (n.1071+235C>G) c.1153C>G (p.Arg385Gly) c.72+235C>G (n.72+235C>G) c.1168C>G (p.Arg390Gly) n.772C>G n.3602C>G c.1156C>G (p.Arg386Gly) c.1165C>G (p.Arg389Gly) n.482C>G c.*1035C>G (n.*1035C>G) c.471+235C>G (n.471+235C>G) c.505C>G (p.Arg169Gly) | |
| 11 | g.1753568G= | CA1947825117 | CTSD | c.1174C= (p.Arg392=) c.1069C= (p.Arg357=) c.599C= c.*340C= (n.*340C=) c.1291C= (p.Arg431=) c.1071+235C= (n.1071+235C=) c.1153C= (p.Arg385=) c.72+235C= (n.72+235C=) c.1168C= (p.Arg390=) n.772C= n.3602C= c.1156C= (p.Arg386=) c.1165C= (p.Arg389=) n.482C= c.*1035C= (n.*1035C=) c.471+235C= (n.471+235C=) c.505C= (p.Arg169=) | |
| 11 | g.1753568G>T | CA379092438 | CTSD | c.1174C>A (p.Arg392Ser) c.1069C>A (p.Arg357Ser) c.599C>A c.*340C>A (n.*340C>A) c.1291C>A (p.Arg431Ser) c.1071+235C>A (n.1071+235C>A) c.1153C>A (p.Arg385Ser) c.72+235C>A (n.72+235C>A) c.1168C>A (p.Arg390Ser) n.772C>A n.3602C>A c.1156C>A (p.Arg386Ser) c.1165C>A (p.Arg389Ser) n.482C>A c.*1035C>A (n.*1035C>A) c.471+235C>A (n.471+235C>A) c.505C>A (p.Arg169Ser) | |
| 11 | g.1753569G>A | CA472139836 | CTSD | c.1173C>T (p.Gly391=) c.1068C>T (p.Gly356=) c.598C>T c.*339C>T (n.*339C>T) c.1290C>T (p.Gly430=) c.1071+234C>T (n.1071+234C>T) c.1152C>T (p.Gly384=) c.72+234C>T (n.72+234C>T) c.1167C>T (p.Gly389=) n.771C>T n.3601C>T c.1155C>T (p.Gly385=) c.1164C>T (p.Gly388=) n.481C>T c.*1034C>T (n.*1034C>T) c.471+234C>T (n.471+234C>T) c.504C>T (p.Gly168=) | |
| 11 | g.1753569G>C | CA472139838 | CTSD | c.1173C>G (p.Gly391=) c.1068C>G (p.Gly356=) c.598C>G c.*339C>G (n.*339C>G) c.1290C>G (p.Gly430=) c.1071+234C>G (n.1071+234C>G) c.1152C>G (p.Gly384=) c.72+234C>G (n.72+234C>G) c.1167C>G (p.Gly389=) n.771C>G n.3601C>G c.1155C>G (p.Gly385=) c.1164C>G (p.Gly388=) n.481C>G c.*1034C>G (n.*1034C>G) c.471+234C>G (n.471+234C>G) c.504C>G (p.Gly168=) | |
| 11 | g.1753569G= | CA1947825118 | CTSD | c.1173C= (p.Gly391=) c.1068C= (p.Gly356=) c.598C= c.*339C= (n.*339C=) c.1290C= (p.Gly430=) c.1071+234C= (n.1071+234C=) c.1152C= (p.Gly384=) c.72+234C= (n.72+234C=) c.1167C= (p.Gly389=) n.771C= n.3601C= c.1155C= (p.Gly385=) c.1164C= (p.Gly388=) n.481C= c.*1034C= (n.*1034C=) c.471+234C= (n.471+234C=) c.504C= (p.Gly168=) | |
| 11 | g.1753569G>T | CA472139840 | CTSD | c.1173C>A (p.Gly391=) c.1068C>A (p.Gly356=) c.598C>A c.*339C>A (n.*339C>A) c.1290C>A (p.Gly430=) c.1071+234C>A (n.1071+234C>A) c.1152C>A (p.Gly384=) c.72+234C>A (n.72+234C>A) c.1167C>A (p.Gly389=) n.771C>A n.3601C>A c.1155C>A (p.Gly385=) c.1164C>A (p.Gly388=) n.481C>A c.*1034C>A (n.*1034C>A) c.471+234C>A (n.471+234C>A) c.504C>A (p.Gly168=) | |
| 11 | g.1753569_1753570insAA | CA918804391 | CTSD | c.1172_1173insTT (p.Arg392SerfsTer?) c.1067_1068insTT (p.Arg357SerfsTer?) c.597_598insTT c.*338_*339insTT (n.*338_*339insTT) c.1289_1290insTT (p.Arg431SerfsTer?) c.1071+233_1071+234insTT (n.1071+233_1071+234insTT) c.1151_1152insTT (p.Arg385SerfsTer?) c.72+233_72+234insTT (n.72+233_72+234insTT) c.1166_1167insTT (p.Arg390SerfsTer?) n.770_771insTT n.3600_3601insTT c.1154_1155insTT (p.Arg386SerfsTer?) c.1163_1164insTT (p.Arg389SerfsTer?) n.480_481insTT c.*1033_*1034insTT (n.*1033_*1034insTT) c.471+233_471+234insTT (n.471+233_471+234insTT) c.503_504insTT (p.Arg169SerfsTer?) | dbSNP |
| 11 | g.1753570C>A | CA379092440 | CTSD | c.1172G>T (p.Gly391Val) c.1067G>T (p.Gly356Val) c.597G>T c.*338G>T (n.*338G>T) c.1289G>T (p.Gly430Val) c.1071+233G>T (n.1071+233G>T) c.1151G>T (p.Gly384Val) c.72+233G>T (n.72+233G>T) c.1166G>T (p.Gly389Val) n.770G>T n.3600G>T c.1154G>T (p.Gly385Val) c.1163G>T (p.Gly388Val) n.480G>T c.*1033G>T (n.*1033G>T) c.471+233G>T (n.471+233G>T) c.503G>T (p.Gly168Val) | |
| 11 | g.1753570C>G | CA379092442 | CTSD | c.1172G>C (p.Gly391Ala) c.1067G>C (p.Gly356Ala) c.597G>C c.*338G>C (n.*338G>C) c.1289G>C (p.Gly430Ala) c.1071+233G>C (n.1071+233G>C) c.1151G>C (p.Gly384Ala) c.72+233G>C (n.72+233G>C) c.1166G>C (p.Gly389Ala) n.770G>C n.3600G>C c.1154G>C (p.Gly385Ala) c.1163G>C (p.Gly388Ala) n.480G>C c.*1033G>C (n.*1033G>C) c.471+233G>C (n.471+233G>C) c.503G>C (p.Gly168Ala) | gnomAD v4 |
| 11 | g.1753570C>T | CA379092441 | CTSD | c.1172G>A (p.Gly391Asp) c.1067G>A (p.Gly356Asp) c.597G>A c.*338G>A (n.*338G>A) c.1289G>A (p.Gly430Asp) c.1071+233G>A (n.1071+233G>A) c.1151G>A (p.Gly384Asp) c.72+233G>A (n.72+233G>A) c.1166G>A (p.Gly389Asp) n.770G>A n.3600G>A c.1154G>A (p.Gly385Asp) c.1163G>A (p.Gly388Asp) n.480G>A c.*1033G>A (n.*1033G>A) c.471+233G>A (n.471+233G>A) c.503G>A (p.Gly168Asp) | gnomAD v4 |
| 11 | g.1753571C>A | CA379092443 | CTSD | c.1171G>T (p.Gly391Cys) c.1066G>T (p.Gly356Cys) c.596G>T c.*337G>T (n.*337G>T) c.1288G>T (p.Gly430Cys) c.1071+232G>T (n.1071+232G>T) c.1150G>T (p.Gly384Cys) c.72+232G>T (n.72+232G>T) c.1165G>T (p.Gly389Cys) n.769G>T n.3599G>T c.1153G>T (p.Gly385Cys) c.1162G>T (p.Gly388Cys) n.479G>T c.*1032G>T (n.*1032G>T) c.471+232G>T (n.471+232G>T) c.502G>T (p.Gly168Cys) | |
| 11 | g.1753571C= | CA1947825119 | CTSD | c.1171G= (p.Gly391=) c.1066G= (p.Gly356=) c.596G= c.*337G= (n.*337G=) c.1288G= (p.Gly430=) c.1071+232G= (n.1071+232G=) c.1150G= (p.Gly384=) c.72+232G= (n.72+232G=) c.1165G= (p.Gly389=) n.769G= n.3599G= c.1153G= (p.Gly385=) c.1162G= (p.Gly388=) n.479G= c.*1032G= (n.*1032G=) c.471+232G= (n.471+232G=) c.502G= (p.Gly168=) | |
| 11 | g.1753571C>G | CA379092445 | CTSD | c.1171G>C (p.Gly391Arg) c.1066G>C (p.Gly356Arg) c.596G>C c.*337G>C (n.*337G>C) c.1288G>C (p.Gly430Arg) c.1071+232G>C (n.1071+232G>C) c.1150G>C (p.Gly384Arg) c.72+232G>C (n.72+232G>C) c.1165G>C (p.Gly389Arg) n.769G>C n.3599G>C c.1153G>C (p.Gly385Arg) c.1162G>C (p.Gly388Arg) n.479G>C c.*1032G>C (n.*1032G>C) c.471+232G>C (n.471+232G>C) c.502G>C (p.Gly168Arg) | |
| 11 | g.1753571C>T | CA5813880 | CTSD | c.1171G>A (p.Gly391Ser) c.1066G>A (p.Gly356Ser) c.596G>A c.*337G>A (n.*337G>A) c.1288G>A (p.Gly430Ser) c.1071+232G>A (n.1071+232G>A) c.1150G>A (p.Gly384Ser) c.72+232G>A (n.72+232G>A) c.1165G>A (p.Gly389Ser) n.769G>A n.3599G>A c.1153G>A (p.Gly385Ser) c.1162G>A (p.Gly388Ser) n.479G>A c.*1032G>A (n.*1032G>A) c.471+232G>A (n.471+232G>A) c.502G>A (p.Gly168Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753572G>A | CA5813881 | CTSD | c.1170C>T (p.Ile390=) c.1065C>T (p.Ile355=) c.595C>T c.*336C>T (n.*336C>T) c.1287C>T (p.Ile429=) c.1071+231C>T (n.1071+231C>T) c.1149C>T (p.Ile383=) c.72+231C>T (n.72+231C>T) c.1164C>T (p.Ile388=) n.768C>T n.3598C>T c.1152C>T (p.Ile384=) c.1161C>T (p.Ile387=) n.478C>T c.*1031C>T (n.*1031C>T) c.471+231C>T (n.471+231C>T) c.501C>T (p.Ile167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753572G>C | CA379092448 | CTSD | c.1170C>G (p.Ile390Met) c.1065C>G (p.Ile355Met) c.595C>G c.*336C>G (n.*336C>G) c.1287C>G (p.Ile429Met) c.1071+231C>G (n.1071+231C>G) c.1149C>G (p.Ile383Met) c.72+231C>G (n.72+231C>G) c.1164C>G (p.Ile388Met) n.768C>G n.3598C>G c.1152C>G (p.Ile384Met) c.1161C>G (p.Ile387Met) n.478C>G c.*1031C>G (n.*1031C>G) c.471+231C>G (n.471+231C>G) c.501C>G (p.Ile167Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.1753572G= | CA1947825120 | CTSD | c.1170C= (p.Ile390=) c.1065C= (p.Ile355=) c.595C= c.*336C= (n.*336C=) c.1287C= (p.Ile429=) c.1071+231C= (n.1071+231C=) c.1149C= (p.Ile383=) c.72+231C= (n.72+231C=) c.1164C= (p.Ile388=) n.768C= n.3598C= c.1152C= (p.Ile384=) c.1161C= (p.Ile387=) n.478C= c.*1031C= (n.*1031C=) c.471+231C= (n.471+231C=) c.501C= (p.Ile167=) | |
| 11 | g.1753572G>T | CA472139858 | CTSD | c.1170C>A (p.Ile390=) c.1065C>A (p.Ile355=) c.595C>A c.*336C>A (n.*336C>A) c.1287C>A (p.Ile429=) c.1071+231C>A (n.1071+231C>A) c.1149C>A (p.Ile383=) c.72+231C>A (n.72+231C>A) c.1164C>A (p.Ile388=) n.768C>A n.3598C>A c.1152C>A (p.Ile384=) c.1161C>A (p.Ile387=) n.478C>A c.*1031C>A (n.*1031C>A) c.471+231C>A (n.471+231C>A) c.501C>A (p.Ile167=) | |
| 11 | g.1753573A>C | CA379092452 | CTSD | c.1169T>G (p.Ile390Ser) c.1064T>G (p.Ile355Ser) c.594T>G c.*335T>G (n.*335T>G) c.1286T>G (p.Ile429Ser) c.1071+230T>G (n.1071+230T>G) c.1148T>G (p.Ile383Ser) c.72+230T>G (n.72+230T>G) c.1163T>G (p.Ile388Ser) n.767T>G n.3597T>G c.1151T>G (p.Ile384Ser) c.1160T>G (p.Ile387Ser) n.477T>G c.*1030T>G (n.*1030T>G) c.471+230T>G (n.471+230T>G) c.500T>G (p.Ile167Ser) | |
| 11 | g.1753573A>G | CA379092453 | CTSD | c.1169T>C (p.Ile390Thr) c.1064T>C (p.Ile355Thr) c.594T>C c.*335T>C (n.*335T>C) c.1286T>C (p.Ile429Thr) c.1071+230T>C (n.1071+230T>C) c.1148T>C (p.Ile383Thr) c.72+230T>C (n.72+230T>C) c.1163T>C (p.Ile388Thr) n.767T>C n.3597T>C c.1151T>C (p.Ile384Thr) c.1160T>C (p.Ile387Thr) n.477T>C c.*1030T>C (n.*1030T>C) c.471+230T>C (n.471+230T>C) c.500T>C (p.Ile167Thr) | gnomAD v4 |
| 11 | g.1753573A>T | CA379092454 | CTSD | c.1169T>A (p.Ile390Asn) c.1064T>A (p.Ile355Asn) c.594T>A c.*335T>A (n.*335T>A) c.1286T>A (p.Ile429Asn) c.1071+230T>A (n.1071+230T>A) c.1148T>A (p.Ile383Asn) c.72+230T>A (n.72+230T>A) c.1163T>A (p.Ile388Asn) n.767T>A n.3597T>A c.1151T>A (p.Ile384Asn) c.1160T>A (p.Ile387Asn) n.477T>A c.*1030T>A (n.*1030T>A) c.471+230T>A (n.471+230T>A) c.500T>A (p.Ile167Asn) | |
| 11 | g.1753574_1753588dup | CA186052 | CTSD | c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe) c.1050_1064dup (p.Phe354_Ile355insMetGlyAspValPhe) c.580_594dup c.*321_*335dup (n.*321_*335dup) c.1272_1286dup (p.Phe428_Ile429insMetGlyAspValPhe) c.1071+216_1071+230dup (n.1071+216_1071+230dup) c.1134_1148dup (p.Phe382_Ile383insMetGlyAspValPhe) c.72+216_72+230dup (n.72+216_72+230dup) c.1149_1163dup (p.Phe387_Ile388insMetGlyAspValPhe) n.753_767dup n.3583_3597dup c.1137_1151dup (p.Phe383_Ile384insMetGlyAspValPhe) c.1146_1160dup (p.Phe386_Ile387insMetGlyAspValPhe) n.463_477dup c.*1016_*1030dup (n.*1016_*1030dup) c.471+216_471+230dup (n.471+216_471+230dup) c.486_500dup (p.Phe166_Ile167insMetGlyAspValPhe) | ClinVar dbSNP |
| 11 | g.1753574T>A | CA5813882 | CTSD | c.1168A>T (p.Ile390Phe) c.1063A>T (p.Ile355Phe) c.593A>T c.*334A>T (n.*334A>T) c.1285A>T (p.Ile429Phe) c.1071+229A>T (n.1071+229A>T) c.1147A>T (p.Ile383Phe) c.72+229A>T (n.72+229A>T) c.1162A>T (p.Ile388Phe) n.766A>T n.3596A>T c.1150A>T (p.Ile384Phe) c.1159A>T (p.Ile387Phe) n.476A>T c.*1029A>T (n.*1029A>T) c.471+229A>T (n.471+229A>T) c.499A>T (p.Ile167Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753574T>C | CA379092457 | CTSD | c.1168A>G (p.Ile390Val) c.1063A>G (p.Ile355Val) c.593A>G c.*334A>G (n.*334A>G) c.1285A>G (p.Ile429Val) c.1071+229A>G (n.1071+229A>G) c.1147A>G (p.Ile383Val) c.72+229A>G (n.72+229A>G) c.1162A>G (p.Ile388Val) n.766A>G n.3596A>G c.1150A>G (p.Ile384Val) c.1159A>G (p.Ile387Val) n.476A>G c.*1029A>G (n.*1029A>G) c.471+229A>G (n.471+229A>G) c.499A>G (p.Ile167Val) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.1753574T>G | CA379092458 | CTSD | c.1168A>C (p.Ile390Leu) c.1063A>C (p.Ile355Leu) c.593A>C c.*334A>C (n.*334A>C) c.1285A>C (p.Ile429Leu) c.1071+229A>C (n.1071+229A>C) c.1147A>C (p.Ile383Leu) c.72+229A>C (n.72+229A>C) c.1162A>C (p.Ile388Leu) n.766A>C n.3596A>C c.1150A>C (p.Ile384Leu) c.1159A>C (p.Ile387Leu) n.476A>C c.*1029A>C (n.*1029A>C) c.471+229A>C (n.471+229A>C) c.499A>C (p.Ile167Leu) | |
| 11 | g.1753574T= | CA1947825121 | CTSD | c.1168A= (p.Ile390=) c.1063A= (p.Ile355=) c.593A= c.*334A= (n.*334A=) c.1285A= (p.Ile429=) c.1071+229A= (n.1071+229A=) c.1147A= (p.Ile383=) c.72+229A= (n.72+229A=) c.1162A= (p.Ile388=) n.766A= n.3596A= c.1150A= (p.Ile384=) c.1159A= (p.Ile387=) n.476A= c.*1029A= (n.*1029A=) c.471+229A= (n.471+229A=) c.499A= (p.Ile167=) | |
| 11 | g.1753575G>A | CA472139875 | CTSD | c.1167C>T (p.Phe389=) c.1062C>T (p.Phe354=) c.592C>T c.*333C>T (n.*333C>T) c.1284C>T (p.Phe428=) c.1071+228C>T (n.1071+228C>T) c.1146C>T (p.Phe382=) c.72+228C>T (n.72+228C>T) c.1161C>T (p.Phe387=) n.765C>T n.3595C>T c.1149C>T (p.Phe383=) c.1158C>T (p.Phe386=) n.475C>T c.*1028C>T (n.*1028C>T) c.471+228C>T (n.471+228C>T) c.498C>T (p.Phe166=) | |
| 11 | g.1753575G>C | CA379092461 | CTSD | c.1167C>G (p.Phe389Leu) c.1062C>G (p.Phe354Leu) c.592C>G c.*333C>G (n.*333C>G) c.1284C>G (p.Phe428Leu) c.1071+228C>G (n.1071+228C>G) c.1146C>G (p.Phe382Leu) c.72+228C>G (n.72+228C>G) c.1161C>G (p.Phe387Leu) n.765C>G n.3595C>G c.1149C>G (p.Phe383Leu) c.1158C>G (p.Phe386Leu) n.475C>G c.*1028C>G (n.*1028C>G) c.471+228C>G (n.471+228C>G) c.498C>G (p.Phe166Leu) | |
| 11 | g.1753575G>T | CA379092464 | CTSD | c.1167C>A (p.Phe389Leu) c.1062C>A (p.Phe354Leu) c.592C>A c.*333C>A (n.*333C>A) c.1284C>A (p.Phe428Leu) c.1071+228C>A (n.1071+228C>A) c.1146C>A (p.Phe382Leu) c.72+228C>A (n.72+228C>A) c.1161C>A (p.Phe387Leu) n.765C>A n.3595C>A c.1149C>A (p.Phe383Leu) c.1158C>A (p.Phe386Leu) n.475C>A c.*1028C>A (n.*1028C>A) c.471+228C>A (n.471+228C>A) c.498C>A (p.Phe166Leu) | |
| 11 | g.1753576A>C | CA379092465 | CTSD | c.1166T>G (p.Phe389Cys) c.1061T>G (p.Phe354Cys) c.591T>G c.*332T>G (n.*332T>G) c.1283T>G (p.Phe428Cys) c.1071+227T>G (n.1071+227T>G) c.1145T>G (p.Phe382Cys) c.72+227T>G (n.72+227T>G) c.1160T>G (p.Phe387Cys) n.764T>G n.3594T>G c.1148T>G (p.Phe383Cys) c.1157T>G (p.Phe386Cys) n.474T>G c.*1027T>G (n.*1027T>G) c.471+227T>G (n.471+227T>G) c.497T>G (p.Phe166Cys) | |
| 11 | g.1753576A>G | CA379092467 | CTSD | c.1166T>C (p.Phe389Ser) c.1061T>C (p.Phe354Ser) c.591T>C c.*332T>C (n.*332T>C) c.1283T>C (p.Phe428Ser) c.1071+227T>C (n.1071+227T>C) c.1145T>C (p.Phe382Ser) c.72+227T>C (n.72+227T>C) c.1160T>C (p.Phe387Ser) n.764T>C n.3594T>C c.1148T>C (p.Phe383Ser) c.1157T>C (p.Phe386Ser) n.474T>C c.*1027T>C (n.*1027T>C) c.471+227T>C (n.471+227T>C) c.497T>C (p.Phe166Ser) | |
| 11 | g.1753576A>T | CA379092468 | CTSD | c.1166T>A (p.Phe389Tyr) c.1061T>A (p.Phe354Tyr) c.591T>A c.*332T>A (n.*332T>A) c.1283T>A (p.Phe428Tyr) c.1071+227T>A (n.1071+227T>A) c.1145T>A (p.Phe382Tyr) c.72+227T>A (n.72+227T>A) c.1160T>A (p.Phe387Tyr) n.764T>A n.3594T>A c.1148T>A (p.Phe383Tyr) c.1157T>A (p.Phe386Tyr) n.474T>A c.*1027T>A (n.*1027T>A) c.471+227T>A (n.471+227T>A) c.497T>A (p.Phe166Tyr) | |
| 11 | g.1753577A>C | CA379092470 | CTSD | c.1165T>G (p.Phe389Val) c.1060T>G (p.Phe354Val) c.590T>G c.*331T>G (n.*331T>G) c.1282T>G (p.Phe428Val) c.1071+226T>G (n.1071+226T>G) c.1144T>G (p.Phe382Val) c.72+226T>G (n.72+226T>G) c.1159T>G (p.Phe387Val) n.763T>G n.3593T>G c.1147T>G (p.Phe383Val) c.1156T>G (p.Phe386Val) n.473T>G c.*1026T>G (n.*1026T>G) c.471+226T>G (n.471+226T>G) c.496T>G (p.Phe166Val) | |
| 11 | g.1753577A>G | CA379092474 | CTSD | c.1165T>C (p.Phe389Leu) c.1060T>C (p.Phe354Leu) c.590T>C c.*331T>C (n.*331T>C) c.1282T>C (p.Phe428Leu) c.1071+226T>C (n.1071+226T>C) c.1144T>C (p.Phe382Leu) c.72+226T>C (n.72+226T>C) c.1159T>C (p.Phe387Leu) n.763T>C n.3593T>C c.1147T>C (p.Phe383Leu) c.1156T>C (p.Phe386Leu) n.473T>C c.*1026T>C (n.*1026T>C) c.471+226T>C (n.471+226T>C) c.496T>C (p.Phe166Leu) | |
| 11 | g.1753577A>T | CA379092472 | CTSD | c.1165T>A (p.Phe389Ile) c.1060T>A (p.Phe354Ile) c.590T>A c.*331T>A (n.*331T>A) c.1282T>A (p.Phe428Ile) c.1071+226T>A (n.1071+226T>A) c.1144T>A (p.Phe382Ile) c.72+226T>A (n.72+226T>A) c.1159T>A (p.Phe387Ile) n.763T>A n.3593T>A c.1147T>A (p.Phe383Ile) c.1156T>A (p.Phe386Ile) n.473T>A c.*1026T>A (n.*1026T>A) c.471+226T>A (n.471+226T>A) c.496T>A (p.Phe166Ile) | |
| 11 | g.1753578G>A | CA472140344 | CTSD | c.1164C>T (p.Val388=) c.1059C>T (p.Val353=) c.589C>T c.*330C>T (n.*330C>T) c.1281C>T (p.Val427=) c.1071+225C>T (n.1071+225C>T) c.1143C>T (p.Val381=) c.72+225C>T (n.72+225C>T) c.1158C>T (p.Val386=) n.762C>T n.3592C>T c.1146C>T (p.Val382=) c.1155C>T (p.Val385=) n.472C>T c.*1025C>T (n.*1025C>T) c.471+225C>T (n.471+225C>T) c.495C>T (p.Val165=) | ClinVar |
| 11 | g.1753578G>C | CA472140336 | CTSD | c.1164C>G (p.Val388=) c.1059C>G (p.Val353=) c.589C>G c.*330C>G (n.*330C>G) c.1281C>G (p.Val427=) c.1071+225C>G (n.1071+225C>G) c.1143C>G (p.Val381=) c.72+225C>G (n.72+225C>G) c.1158C>G (p.Val386=) n.762C>G n.3592C>G c.1146C>G (p.Val382=) c.1155C>G (p.Val385=) n.472C>G c.*1025C>G (n.*1025C>G) c.471+225C>G (n.471+225C>G) c.495C>G (p.Val165=) | ClinVar |
| 11 | g.1753578G>T | CA472140340 | CTSD | c.1164C>A (p.Val388=) c.1059C>A (p.Val353=) c.589C>A c.*330C>A (n.*330C>A) c.1281C>A (p.Val427=) c.1071+225C>A (n.1071+225C>A) c.1143C>A (p.Val381=) c.72+225C>A (n.72+225C>A) c.1158C>A (p.Val386=) n.762C>A n.3592C>A c.1146C>A (p.Val382=) c.1155C>A (p.Val385=) n.472C>A c.*1025C>A (n.*1025C>A) c.471+225C>A (n.471+225C>A) c.495C>A (p.Val165=) | gnomAD v4 |
| 11 | g.1753579A>C | CA379092475 | CTSD | c.1163T>G (p.Val388Gly) c.1058T>G (p.Val353Gly) c.588T>G c.*329T>G (n.*329T>G) c.1280T>G (p.Val427Gly) c.1071+224T>G (n.1071+224T>G) c.1142T>G (p.Val381Gly) c.72+224T>G (n.72+224T>G) c.1157T>G (p.Val386Gly) n.761T>G n.3591T>G c.1145T>G (p.Val382Gly) c.1154T>G (p.Val385Gly) n.471T>G c.*1024T>G (n.*1024T>G) c.471+224T>G (n.471+224T>G) c.494T>G (p.Val165Gly) | |
| 11 | g.1753579A>G | CA379092476 | CTSD | c.1163T>C (p.Val388Ala) c.1058T>C (p.Val353Ala) c.588T>C c.*329T>C (n.*329T>C) c.1280T>C (p.Val427Ala) c.1071+224T>C (n.1071+224T>C) c.1142T>C (p.Val381Ala) c.72+224T>C (n.72+224T>C) c.1157T>C (p.Val386Ala) n.761T>C n.3591T>C c.1145T>C (p.Val382Ala) c.1154T>C (p.Val385Ala) n.471T>C c.*1024T>C (n.*1024T>C) c.471+224T>C (n.471+224T>C) c.494T>C (p.Val165Ala) | |
| 11 | g.1753579A>T | CA379092477 | CTSD | c.1163T>A (p.Val388Asp) c.1058T>A (p.Val353Asp) c.588T>A c.*329T>A (n.*329T>A) c.1280T>A (p.Val427Asp) c.1071+224T>A (n.1071+224T>A) c.1142T>A (p.Val381Asp) c.72+224T>A (n.72+224T>A) c.1157T>A (p.Val386Asp) n.761T>A n.3591T>A c.1145T>A (p.Val382Asp) c.1154T>A (p.Val385Asp) n.471T>A c.*1024T>A (n.*1024T>A) c.471+224T>A (n.471+224T>A) c.494T>A (p.Val165Asp) | |
| 11 | g.1753580C>A | CA379092479 | CTSD | c.1162G>T (p.Val388Phe) c.1057G>T (p.Val353Phe) c.587G>T c.*328G>T (n.*328G>T) c.1279G>T (p.Val427Phe) c.1071+223G>T (n.1071+223G>T) c.1141G>T (p.Val381Phe) c.72+223G>T (n.72+223G>T) c.1156G>T (p.Val386Phe) n.760G>T n.3590G>T c.1144G>T (p.Val382Phe) c.1153G>T (p.Val385Phe) n.470G>T c.*1023G>T (n.*1023G>T) c.471+223G>T (n.471+223G>T) c.493G>T (p.Val165Phe) | |
| 11 | g.1753580C= | CA1947825122 | CTSD | c.1162G= (p.Val388=) c.1057G= (p.Val353=) c.587G= c.*328G= (n.*328G=) c.1279G= (p.Val427=) c.1071+223G= (n.1071+223G=) c.1141G= (p.Val381=) c.72+223G= (n.72+223G=) c.1156G= (p.Val386=) n.760G= n.3590G= c.1144G= (p.Val382=) c.1153G= (p.Val385=) n.470G= c.*1023G= (n.*1023G=) c.471+223G= (n.471+223G=) c.493G= (p.Val165=) | |
| 11 | g.1753580C>G | CA5813884 | CTSD | c.1162G>C (p.Val388Leu) c.1057G>C (p.Val353Leu) c.587G>C c.*328G>C (n.*328G>C) c.1279G>C (p.Val427Leu) c.1071+223G>C (n.1071+223G>C) c.1141G>C (p.Val381Leu) c.72+223G>C (n.72+223G>C) c.1156G>C (p.Val386Leu) n.760G>C n.3590G>C c.1144G>C (p.Val382Leu) c.1153G>C (p.Val385Leu) n.470G>C c.*1023G>C (n.*1023G>C) c.471+223G>C (n.471+223G>C) c.493G>C (p.Val165Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753580C>T | CA5813883 | CTSD | c.1162G>A (p.Val388Ile) c.1057G>A (p.Val353Ile) c.587G>A c.*328G>A (n.*328G>A) c.1279G>A (p.Val427Ile) c.1071+223G>A (n.1071+223G>A) c.1141G>A (p.Val381Ile) c.72+223G>A (n.72+223G>A) c.1156G>A (p.Val386Ile) n.760G>A n.3590G>A c.1144G>A (p.Val382Ile) c.1153G>A (p.Val385Ile) n.470G>A c.*1023G>A (n.*1023G>A) c.471+223G>A (n.471+223G>A) c.493G>A (p.Val165Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753581G>A | CA216168638 | CTSD | c.1161C>T (p.Asp387=) c.1056C>T (p.Asp352=) c.586C>T c.*327C>T (n.*327C>T) c.1278C>T (p.Asp426=) c.1071+222C>T (n.1071+222C>T) c.1140C>T (p.Asp380=) c.72+222C>T (n.72+222C>T) c.1155C>T (p.Asp385=) n.759C>T n.3589C>T c.1143C>T (p.Asp381=) c.1152C>T (p.Asp384=) n.469C>T c.*1022C>T (n.*1022C>T) c.471+222C>T (n.471+222C>T) c.492C>T (p.Asp164=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753581G>C | CA379092482 | CTSD | c.1161C>G (p.Asp387Glu) c.1056C>G (p.Asp352Glu) c.586C>G c.*327C>G (n.*327C>G) c.1278C>G (p.Asp426Glu) c.1071+222C>G (n.1071+222C>G) c.1140C>G (p.Asp380Glu) c.72+222C>G (n.72+222C>G) c.1155C>G (p.Asp385Glu) n.759C>G n.3589C>G c.1143C>G (p.Asp381Glu) c.1152C>G (p.Asp384Glu) n.469C>G c.*1022C>G (n.*1022C>G) c.471+222C>G (n.471+222C>G) c.492C>G (p.Asp164Glu) | |
| 11 | g.1753581G= | CA1947825123 | CTSD | c.1161C= (p.Asp387=) c.1056C= (p.Asp352=) c.586C= c.*327C= (n.*327C=) c.1278C= (p.Asp426=) c.1071+222C= (n.1071+222C=) c.1140C= (p.Asp380=) c.72+222C= (n.72+222C=) c.1155C= (p.Asp385=) n.759C= n.3589C= c.1143C= (p.Asp381=) c.1152C= (p.Asp384=) n.469C= c.*1022C= (n.*1022C=) c.471+222C= (n.471+222C=) c.492C= (p.Asp164=) | |
| 11 | g.1753581G>T | CA379092484 | CTSD | c.1161C>A (p.Asp387Glu) c.1056C>A (p.Asp352Glu) c.586C>A c.*327C>A (n.*327C>A) c.1278C>A (p.Asp426Glu) c.1071+222C>A (n.1071+222C>A) c.1140C>A (p.Asp380Glu) c.72+222C>A (n.72+222C>A) c.1155C>A (p.Asp385Glu) n.759C>A n.3589C>A c.1143C>A (p.Asp381Glu) c.1152C>A (p.Asp384Glu) n.469C>A c.*1022C>A (n.*1022C>A) c.471+222C>A (n.471+222C>A) c.492C>A (p.Asp164Glu) | |
| 11 | g.1753582T>A | CA379092486 | CTSD | c.1160A>T (p.Asp387Val) c.1055A>T (p.Asp352Val) c.585A>T c.*326A>T (n.*326A>T) c.1277A>T (p.Asp426Val) c.1071+221A>T (n.1071+221A>T) c.1139A>T (p.Asp380Val) c.72+221A>T (n.72+221A>T) c.1154A>T (p.Asp385Val) n.758A>T n.3588A>T c.1142A>T (p.Asp381Val) c.1151A>T (p.Asp384Val) n.468A>T c.*1021A>T (n.*1021A>T) c.471+221A>T (n.471+221A>T) c.491A>T (p.Asp164Val) | |
| 11 | g.1753582T>C | CA379092488 | CTSD | c.1160A>G (p.Asp387Gly) c.1055A>G (p.Asp352Gly) c.585A>G c.*326A>G (n.*326A>G) c.1277A>G (p.Asp426Gly) c.1071+221A>G (n.1071+221A>G) c.1139A>G (p.Asp380Gly) c.72+221A>G (n.72+221A>G) c.1154A>G (p.Asp385Gly) n.758A>G n.3588A>G c.1142A>G (p.Asp381Gly) c.1151A>G (p.Asp384Gly) n.468A>G c.*1021A>G (n.*1021A>G) c.471+221A>G (n.471+221A>G) c.491A>G (p.Asp164Gly) | |
| 11 | g.1753582T>G | CA379092490 | CTSD | c.1160A>C (p.Asp387Ala) c.1055A>C (p.Asp352Ala) c.585A>C c.*326A>C (n.*326A>C) c.1277A>C (p.Asp426Ala) c.1071+221A>C (n.1071+221A>C) c.1139A>C (p.Asp380Ala) c.72+221A>C (n.72+221A>C) c.1154A>C (p.Asp385Ala) n.758A>C n.3588A>C c.1142A>C (p.Asp381Ala) c.1151A>C (p.Asp384Ala) n.468A>C c.*1021A>C (n.*1021A>C) c.471+221A>C (n.471+221A>C) c.491A>C (p.Asp164Ala) | |
| 11 | g.1753583C>A | CA5813886 | CTSD | c.1159G>T (p.Asp387Tyr) c.1054G>T (p.Asp352Tyr) c.584G>T c.*325G>T (n.*325G>T) c.1276G>T (p.Asp426Tyr) c.1071+220G>T (n.1071+220G>T) c.1138G>T (p.Asp380Tyr) c.72+220G>T (n.72+220G>T) c.1153G>T (p.Asp385Tyr) n.757G>T n.3587G>T c.1141G>T (p.Asp381Tyr) c.1150G>T (p.Asp384Tyr) n.467G>T c.*1020G>T (n.*1020G>T) c.471+220G>T (n.471+220G>T) c.490G>T (p.Asp164Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753583C= | CA1947825124 | CTSD | c.1159G= (p.Asp387=) c.1054G= (p.Asp352=) c.584G= c.*325G= (n.*325G=) c.1276G= (p.Asp426=) c.1071+220G= (n.1071+220G=) c.1138G= (p.Asp380=) c.72+220G= (n.72+220G=) c.1153G= (p.Asp385=) n.757G= n.3587G= c.1141G= (p.Asp381=) c.1150G= (p.Asp384=) n.467G= c.*1020G= (n.*1020G=) c.471+220G= (n.471+220G=) c.490G= (p.Asp164=) | |
| 11 | g.1753583C>G | CA379092492 | CTSD | c.1159G>C (p.Asp387His) c.1054G>C (p.Asp352His) c.584G>C c.*325G>C (n.*325G>C) c.1276G>C (p.Asp426His) c.1071+220G>C (n.1071+220G>C) c.1138G>C (p.Asp380His) c.72+220G>C (n.72+220G>C) c.1153G>C (p.Asp385His) n.757G>C n.3587G>C c.1141G>C (p.Asp381His) c.1150G>C (p.Asp384His) n.467G>C c.*1020G>C (n.*1020G>C) c.471+220G>C (n.471+220G>C) c.490G>C (p.Asp164His) | |
| 11 | g.1753583C>T | CA5813885 | CTSD | c.1159G>A (p.Asp387Asn) c.1054G>A (p.Asp352Asn) c.584G>A c.*325G>A (n.*325G>A) c.1276G>A (p.Asp426Asn) c.1071+220G>A (n.1071+220G>A) c.1138G>A (p.Asp380Asn) c.72+220G>A (n.72+220G>A) c.1153G>A (p.Asp385Asn) n.757G>A n.3587G>A c.1141G>A (p.Asp381Asn) c.1150G>A (p.Asp384Asn) n.467G>A c.*1020G>A (n.*1020G>A) c.471+220G>A (n.471+220G>A) c.490G>A (p.Asp164Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753584G>A | CA5813887 | CTSD | c.1158C>T (p.Gly386=) c.1053C>T (p.Gly351=) c.583C>T c.*324C>T (n.*324C>T) c.1275C>T (p.Gly425=) c.1071+219C>T (n.1071+219C>T) c.1137C>T (p.Gly379=) c.72+219C>T (n.72+219C>T) c.1152C>T (p.Gly384=) n.756C>T n.3586C>T c.1140C>T (p.Gly380=) c.1149C>T (p.Gly383=) n.466C>T c.*1019C>T (n.*1019C>T) c.471+219C>T (n.471+219C>T) c.489C>T (p.Gly163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753584G>C | CA472140377 | CTSD | c.1158C>G (p.Gly386=) c.1053C>G (p.Gly351=) c.583C>G c.*324C>G (n.*324C>G) c.1275C>G (p.Gly425=) c.1071+219C>G (n.1071+219C>G) c.1137C>G (p.Gly379=) c.72+219C>G (n.72+219C>G) c.1152C>G (p.Gly384=) n.756C>G n.3586C>G c.1140C>G (p.Gly380=) c.1149C>G (p.Gly383=) n.466C>G c.*1019C>G (n.*1019C>G) c.471+219C>G (n.471+219C>G) c.489C>G (p.Gly163=) | |
| 11 | g.1753584G= | CA1947825125 | CTSD | c.1158C= (p.Gly386=) c.1053C= (p.Gly351=) c.583C= c.*324C= (n.*324C=) c.1275C= (p.Gly425=) c.1071+219C= (n.1071+219C=) c.1137C= (p.Gly379=) c.72+219C= (n.72+219C=) c.1152C= (p.Gly384=) n.756C= n.3586C= c.1140C= (p.Gly380=) c.1149C= (p.Gly383=) n.466C= c.*1019C= (n.*1019C=) c.471+219C= (n.471+219C=) c.489C= (p.Gly163=) | |
| 11 | g.1753584G>T | CA472140379 | CTSD | c.1158C>A (p.Gly386=) c.1053C>A (p.Gly351=) c.583C>A c.*324C>A (n.*324C>A) c.1275C>A (p.Gly425=) c.1071+219C>A (n.1071+219C>A) c.1137C>A (p.Gly379=) c.72+219C>A (n.72+219C>A) c.1152C>A (p.Gly384=) n.756C>A n.3586C>A c.1140C>A (p.Gly380=) c.1149C>A (p.Gly383=) n.466C>A c.*1019C>A (n.*1019C>A) c.471+219C>A (n.471+219C>A) c.489C>A (p.Gly163=) | |
| 11 | g.1753585C>A | CA379092497 | CTSD | c.1157G>T (p.Gly386Val) c.1052G>T (p.Gly351Val) c.582G>T c.*323G>T (n.*323G>T) c.1274G>T (p.Gly425Val) c.1071+218G>T (n.1071+218G>T) c.1136G>T (p.Gly379Val) c.72+218G>T (n.72+218G>T) c.1151G>T (p.Gly384Val) n.755G>T n.3585G>T c.1139G>T (p.Gly380Val) c.1148G>T (p.Gly383Val) n.465G>T c.*1018G>T (n.*1018G>T) c.471+218G>T (n.471+218G>T) c.488G>T (p.Gly163Val) | |
| 11 | g.1753585C>G | CA379092498 | CTSD | c.1157G>C (p.Gly386Ala) c.1052G>C (p.Gly351Ala) c.582G>C c.*323G>C (n.*323G>C) c.1274G>C (p.Gly425Ala) c.1071+218G>C (n.1071+218G>C) c.1136G>C (p.Gly379Ala) c.72+218G>C (n.72+218G>C) c.1151G>C (p.Gly384Ala) n.755G>C n.3585G>C c.1139G>C (p.Gly380Ala) c.1148G>C (p.Gly383Ala) n.465G>C c.*1018G>C (n.*1018G>C) c.471+218G>C (n.471+218G>C) c.488G>C (p.Gly163Ala) | |
| 11 | g.1753585C>T | CA379092500 | CTSD | c.1157G>A (p.Gly386Asp) c.1052G>A (p.Gly351Asp) c.582G>A c.*323G>A (n.*323G>A) c.1274G>A (p.Gly425Asp) c.1071+218G>A (n.1071+218G>A) c.1136G>A (p.Gly379Asp) c.72+218G>A (n.72+218G>A) c.1151G>A (p.Gly384Asp) n.755G>A n.3585G>A c.1139G>A (p.Gly380Asp) c.1148G>A (p.Gly383Asp) n.465G>A c.*1018G>A (n.*1018G>A) c.471+218G>A (n.471+218G>A) c.488G>A (p.Gly163Asp) | gnomAD v4 |
| 11 | g.1753586C>A | CA379092502 | CTSD | c.1156G>T (p.Gly386Cys) c.1051G>T (p.Gly351Cys) c.581G>T c.*322G>T (n.*322G>T) c.1273G>T (p.Gly425Cys) c.1071+217G>T (n.1071+217G>T) c.1135G>T (p.Gly379Cys) c.72+217G>T (n.72+217G>T) c.1150G>T (p.Gly384Cys) n.754G>T n.3584G>T c.1138G>T (p.Gly380Cys) c.1147G>T (p.Gly383Cys) n.464G>T c.*1017G>T (n.*1017G>T) c.471+217G>T (n.471+217G>T) c.487G>T (p.Gly163Cys) | |
| 11 | g.1753586C>G | CA379092504 | CTSD | c.1156G>C (p.Gly386Arg) c.1051G>C (p.Gly351Arg) c.581G>C c.*322G>C (n.*322G>C) c.1273G>C (p.Gly425Arg) c.1071+217G>C (n.1071+217G>C) c.1135G>C (p.Gly379Arg) c.72+217G>C (n.72+217G>C) c.1150G>C (p.Gly384Arg) n.754G>C n.3584G>C c.1138G>C (p.Gly380Arg) c.1147G>C (p.Gly383Arg) n.464G>C c.*1017G>C (n.*1017G>C) c.471+217G>C (n.471+217G>C) c.487G>C (p.Gly163Arg) | |
| 11 | g.1753586C>T | CA379092506 | CTSD | c.1156G>A (p.Gly386Ser) c.1051G>A (p.Gly351Ser) c.581G>A c.*322G>A (n.*322G>A) c.1273G>A (p.Gly425Ser) c.1071+217G>A (n.1071+217G>A) c.1135G>A (p.Gly379Ser) c.72+217G>A (n.72+217G>A) c.1150G>A (p.Gly384Ser) n.754G>A n.3584G>A c.1138G>A (p.Gly380Ser) c.1147G>A (p.Gly383Ser) n.464G>A c.*1017G>A (n.*1017G>A) c.471+217G>A (n.471+217G>A) c.487G>A (p.Gly163Ser) | gnomAD v4 |
| 11 | g.1753590_1753596del | CA2790162974 | CTSD | c.1150_1156del (p.Ile384AlafsTer?) c.1045_1051del (p.Ile349AlafsTer?) c.575_581del c.*316_*322del (n.*316_*322del) c.1267_1273del (p.Ile423AlafsTer?) c.1071+211_1071+217del (n.1071+211_1071+217del) c.1129_1135del (p.Ile377AlafsTer?) c.72+211_72+217del (n.72+211_72+217del) c.1144_1150del (p.Ile382AlafsTer?) n.748_754del n.3578_3584del c.1132_1138del (p.Ile378AlafsTer?) c.1141_1147del (p.Ile381AlafsTer?) n.458_464del c.*1011_*1017del (n.*1011_*1017del) c.471+211_471+217del (n.471+211_471+217del) c.481_487del (p.Ile161AlafsTer?) | |
| 11 | g.1753587C>A | CA472140399 | CTSD | c.1155G>T (p.Leu385=) c.1050G>T (p.Leu350=) c.580G>T c.*321G>T (n.*321G>T) c.1272G>T (p.Leu424=) c.1071+216G>T (n.1071+216G>T) c.1134G>T (p.Leu378=) c.72+216G>T (n.72+216G>T) c.1149G>T (p.Leu383=) n.753G>T n.3583G>T c.1137G>T (p.Leu379=) c.1146G>T (p.Leu382=) n.463G>T c.*1016G>T (n.*1016G>T) c.471+216G>T (n.471+216G>T) c.486G>T (p.Leu162=) | |
| 11 | g.1753587C>G | CA472140403 | CTSD | c.1155G>C (p.Leu385=) c.1050G>C (p.Leu350=) c.580G>C c.*321G>C (n.*321G>C) c.1272G>C (p.Leu424=) c.1071+216G>C (n.1071+216G>C) c.1134G>C (p.Leu378=) c.72+216G>C (n.72+216G>C) c.1149G>C (p.Leu383=) n.753G>C n.3583G>C c.1137G>C (p.Leu379=) c.1146G>C (p.Leu382=) n.463G>C c.*1016G>C (n.*1016G>C) c.471+216G>C (n.471+216G>C) c.486G>C (p.Leu162=) | |
| 11 | g.1753587C>T | CA472140404 | CTSD | c.1155G>A (p.Leu385=) c.1050G>A (p.Leu350=) c.580G>A c.*321G>A (n.*321G>A) c.1272G>A (p.Leu424=) c.1071+216G>A (n.1071+216G>A) c.1134G>A (p.Leu378=) c.72+216G>A (n.72+216G>A) c.1149G>A (p.Leu383=) n.753G>A n.3583G>A c.1137G>A (p.Leu379=) c.1146G>A (p.Leu382=) n.463G>A c.*1016G>A (n.*1016G>A) c.471+216G>A (n.471+216G>A) c.486G>A (p.Leu162=) | gnomAD v4 |
| 11 | g.1753588A>C | CA379092508 | CTSD | c.1154T>G (p.Leu385Arg) c.1049T>G (p.Leu350Arg) c.579T>G c.*320T>G (n.*320T>G) c.1271T>G (p.Leu424Arg) c.1071+215T>G (n.1071+215T>G) c.1133T>G (p.Leu378Arg) c.72+215T>G (n.72+215T>G) c.1148T>G (p.Leu383Arg) n.752T>G n.3582T>G c.1136T>G (p.Leu379Arg) c.1145T>G (p.Leu382Arg) n.462T>G c.*1015T>G (n.*1015T>G) c.471+215T>G (n.471+215T>G) c.485T>G (p.Leu162Arg) | |
| 11 | g.1753588A>G | CA379092509 | CTSD | c.1154T>C (p.Leu385Pro) c.1049T>C (p.Leu350Pro) c.579T>C c.*320T>C (n.*320T>C) c.1271T>C (p.Leu424Pro) c.1071+215T>C (n.1071+215T>C) c.1133T>C (p.Leu378Pro) c.72+215T>C (n.72+215T>C) c.1148T>C (p.Leu383Pro) n.752T>C n.3582T>C c.1136T>C (p.Leu379Pro) c.1145T>C (p.Leu382Pro) n.462T>C c.*1015T>C (n.*1015T>C) c.471+215T>C (n.471+215T>C) c.485T>C (p.Leu162Pro) | |
| 11 | g.1753588A>T | CA379092511 | CTSD | c.1154T>A (p.Leu385Gln) c.1049T>A (p.Leu350Gln) c.579T>A c.*320T>A (n.*320T>A) c.1271T>A (p.Leu424Gln) c.1071+215T>A (n.1071+215T>A) c.1133T>A (p.Leu378Gln) c.72+215T>A (n.72+215T>A) c.1148T>A (p.Leu383Gln) n.752T>A n.3582T>A c.1136T>A (p.Leu379Gln) c.1145T>A (p.Leu382Gln) n.462T>A c.*1015T>A (n.*1015T>A) c.471+215T>A (n.471+215T>A) c.485T>A (p.Leu162Gln) | |
| 11 | g.1753589G>A | CA472140421 | CTSD | c.1153C>T (p.Leu385=) c.1048C>T (p.Leu350=) c.578C>T c.*319C>T (n.*319C>T) c.1270C>T (p.Leu424=) c.1071+214C>T (n.1071+214C>T) c.1132C>T (p.Leu378=) c.72+214C>T (n.72+214C>T) c.1147C>T (p.Leu383=) n.751C>T n.3581C>T c.1135C>T (p.Leu379=) c.1144C>T (p.Leu382=) n.461C>T c.*1014C>T (n.*1014C>T) c.471+214C>T (n.471+214C>T) c.484C>T (p.Leu162=) | |
| 11 | g.1753589G>C | CA379092513 | CTSD | c.1153C>G (p.Leu385Val) c.1048C>G (p.Leu350Val) c.578C>G c.*319C>G (n.*319C>G) c.1270C>G (p.Leu424Val) c.1071+214C>G (n.1071+214C>G) c.1132C>G (p.Leu378Val) c.72+214C>G (n.72+214C>G) c.1147C>G (p.Leu383Val) n.751C>G n.3581C>G c.1135C>G (p.Leu379Val) c.1144C>G (p.Leu382Val) n.461C>G c.*1014C>G (n.*1014C>G) c.471+214C>G (n.471+214C>G) c.484C>G (p.Leu162Val) | |
| 11 | g.1753589G>T | CA379092516 | CTSD | c.1153C>A (p.Leu385Met) c.1048C>A (p.Leu350Met) c.578C>A c.*319C>A (n.*319C>A) c.1270C>A (p.Leu424Met) c.1071+214C>A (n.1071+214C>A) c.1132C>A (p.Leu378Met) c.72+214C>A (n.72+214C>A) c.1147C>A (p.Leu383Met) n.751C>A n.3581C>A c.1135C>A (p.Leu379Met) c.1144C>A (p.Leu382Met) n.461C>A c.*1014C>A (n.*1014C>A) c.471+214C>A (n.471+214C>A) c.484C>A (p.Leu162Met) | |
| 11 | g.1753590G>A | CA472140424 | CTSD | c.1152C>T (p.Ile384=) c.1047C>T (p.Ile349=) c.577C>T c.*318C>T (n.*318C>T) c.1269C>T (p.Ile423=) c.1071+213C>T (n.1071+213C>T) c.1131C>T (p.Ile377=) c.72+213C>T (n.72+213C>T) c.1146C>T (p.Ile382=) n.750C>T n.3580C>T c.1134C>T (p.Ile378=) c.1143C>T (p.Ile381=) n.460C>T c.*1013C>T (n.*1013C>T) c.471+213C>T (n.471+213C>T) c.483C>T (p.Ile161=) | |
| 11 | g.1753590G>C | CA379092518 | CTSD | c.1152C>G (p.Ile384Met) c.1047C>G (p.Ile349Met) c.577C>G c.*318C>G (n.*318C>G) c.1269C>G (p.Ile423Met) c.1071+213C>G (n.1071+213C>G) c.1131C>G (p.Ile377Met) c.72+213C>G (n.72+213C>G) c.1146C>G (p.Ile382Met) n.750C>G n.3580C>G c.1134C>G (p.Ile378Met) c.1143C>G (p.Ile381Met) n.460C>G c.*1013C>G (n.*1013C>G) c.471+213C>G (n.471+213C>G) c.483C>G (p.Ile161Met) | |
| 11 | g.1753590G>T | CA472140429 | CTSD | c.1152C>A (p.Ile384=) c.1047C>A (p.Ile349=) c.577C>A c.*318C>A (n.*318C>A) c.1269C>A (p.Ile423=) c.1071+213C>A (n.1071+213C>A) c.1131C>A (p.Ile377=) c.72+213C>A (n.72+213C>A) c.1146C>A (p.Ile382=) n.750C>A n.3580C>A c.1134C>A (p.Ile378=) c.1143C>A (p.Ile381=) n.460C>A c.*1013C>A (n.*1013C>A) c.471+213C>A (n.471+213C>A) c.483C>A (p.Ile161=) | |
| 11 | g.1753591A>C | CA379092523 | CTSD | c.1151T>G (p.Ile384Ser) c.1046T>G (p.Ile349Ser) c.576T>G c.*317T>G (n.*317T>G) c.1268T>G (p.Ile423Ser) c.1071+212T>G (n.1071+212T>G) c.1130T>G (p.Ile377Ser) c.72+212T>G (n.72+212T>G) c.1145T>G (p.Ile382Ser) n.749T>G n.3579T>G c.1133T>G (p.Ile378Ser) c.1142T>G (p.Ile381Ser) n.459T>G c.*1012T>G (n.*1012T>G) c.471+212T>G (n.471+212T>G) c.482T>G (p.Ile161Ser) | |
| 11 | g.1753591A>G | CA379092521 | CTSD | c.1151T>C (p.Ile384Thr) c.1046T>C (p.Ile349Thr) c.576T>C c.*317T>C (n.*317T>C) c.1268T>C (p.Ile423Thr) c.1071+212T>C (n.1071+212T>C) c.1130T>C (p.Ile377Thr) c.72+212T>C (n.72+212T>C) c.1145T>C (p.Ile382Thr) n.749T>C n.3579T>C c.1133T>C (p.Ile378Thr) c.1142T>C (p.Ile381Thr) n.459T>C c.*1012T>C (n.*1012T>C) c.471+212T>C (n.471+212T>C) c.482T>C (p.Ile161Thr) | gnomAD v4 |
| 11 | g.1753591A>T | CA379092522 | CTSD | c.1151T>A (p.Ile384Asn) c.1046T>A (p.Ile349Asn) c.576T>A c.*317T>A (n.*317T>A) c.1268T>A (p.Ile423Asn) c.1071+212T>A (n.1071+212T>A) c.1130T>A (p.Ile377Asn) c.72+212T>A (n.72+212T>A) c.1145T>A (p.Ile382Asn) n.749T>A n.3579T>A c.1133T>A (p.Ile378Asn) c.1142T>A (p.Ile381Asn) n.459T>A c.*1012T>A (n.*1012T>A) c.471+212T>A (n.471+212T>A) c.482T>A (p.Ile161Asn) | |
| 11 | g.1753592T>A | CA379092525 | CTSD | c.1150A>T (p.Ile384Phe) c.1045A>T (p.Ile349Phe) c.575A>T c.*316A>T (n.*316A>T) c.1267A>T (p.Ile423Phe) c.1071+211A>T (n.1071+211A>T) c.1129A>T (p.Ile377Phe) c.72+211A>T (n.72+211A>T) c.1144A>T (p.Ile382Phe) n.748A>T n.3578A>T c.1132A>T (p.Ile378Phe) c.1141A>T (p.Ile381Phe) n.458A>T c.*1011A>T (n.*1011A>T) c.471+211A>T (n.471+211A>T) c.481A>T (p.Ile161Phe) | gnomAD v4 |
| 11 | g.1753592T>C | CA314330 | CTSD | c.1150A>G (p.Ile384Val) c.1045A>G (p.Ile349Val) c.575A>G c.*316A>G (n.*316A>G) c.1267A>G (p.Ile423Val) c.1071+211A>G (n.1071+211A>G) c.1129A>G (p.Ile377Val) c.72+211A>G (n.72+211A>G) c.1144A>G (p.Ile382Val) n.748A>G n.3578A>G c.1132A>G (p.Ile378Val) c.1141A>G (p.Ile381Val) n.458A>G c.*1011A>G (n.*1011A>G) c.471+211A>G (n.471+211A>G) c.481A>G (p.Ile161Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.1753592T>G | CA379092526 | CTSD | c.1150A>C (p.Ile384Leu) c.1045A>C (p.Ile349Leu) c.575A>C c.*316A>C (n.*316A>C) c.1267A>C (p.Ile423Leu) c.1071+211A>C (n.1071+211A>C) c.1129A>C (p.Ile377Leu) c.72+211A>C (n.72+211A>C) c.1144A>C (p.Ile382Leu) n.748A>C n.3578A>C c.1132A>C (p.Ile378Leu) c.1141A>C (p.Ile381Leu) n.458A>C c.*1011A>C (n.*1011A>C) c.471+211A>C (n.471+211A>C) c.481A>C (p.Ile161Leu) | |
| 11 | g.1753592T= | CA1947825126 | CTSD | c.1150A= (p.Ile384=) c.1045A= (p.Ile349=) c.575A= c.*316A= (n.*316A=) c.1267A= (p.Ile423=) c.1071+211A= (n.1071+211A=) c.1129A= (p.Ile377=) c.72+211A= (n.72+211A=) c.1144A= (p.Ile382=) n.748A= n.3578A= c.1132A= (p.Ile378=) c.1141A= (p.Ile381=) n.458A= c.*1011A= (n.*1011A=) c.471+211A= (n.471+211A=) c.481A= (p.Ile161=) | |
| 11 | g.1753593C>A | CA379092527 | CTSD | c.1149G>T (p.Trp383Cys) c.1044G>T (p.Trp348Cys) c.574G>T c.*315G>T (n.*315G>T) c.1266G>T (p.Trp422Cys) c.1071+210G>T (n.1071+210G>T) c.1128G>T (p.Trp376Cys) c.72+210G>T (n.72+210G>T) c.1143G>T (p.Trp381Cys) n.747G>T n.3577G>T c.1131G>T (p.Trp377Cys) c.1140G>T (p.Trp380Cys) n.457G>T c.*1010G>T (n.*1010G>T) c.471+210G>T (n.471+210G>T) c.480G>T (p.Trp160Cys) | gnomAD v4 COSMIC |
| 11 | g.1753593C= | CA1947825127 | CTSD | c.1149G= (p.Trp383=) c.1044G= (p.Trp348=) c.574G= c.*315G= (n.*315G=) c.1266G= (p.Trp422=) c.1071+210G= (n.1071+210G=) c.1128G= (p.Trp376=) c.72+210G= (n.72+210G=) c.1143G= (p.Trp381=) n.747G= n.3577G= c.1131G= (p.Trp377=) c.1140G= (p.Trp380=) n.457G= c.*1010G= (n.*1010G=) c.471+210G= (n.471+210G=) c.480G= (p.Trp160=) | |
| 11 | g.1753593C>G | CA258042 | CTSD | c.1149G>C (p.Trp383Cys) c.1044G>C (p.Trp348Cys) c.574G>C c.*315G>C (n.*315G>C) c.1266G>C (p.Trp422Cys) c.1071+210G>C (n.1071+210G>C) c.1128G>C (p.Trp376Cys) c.72+210G>C (n.72+210G>C) c.1143G>C (p.Trp381Cys) n.747G>C n.3577G>C c.1131G>C (p.Trp377Cys) c.1140G>C (p.Trp380Cys) n.457G>C c.*1010G>C (n.*1010G>C) c.471+210G>C (n.471+210G>C) c.480G>C (p.Trp160Cys) | ClinVar dbSNP |
| 11 | g.1753593C>T | CA379092529 | CTSD | c.1149G>A (p.Trp383Ter) c.1044G>A (p.Trp348Ter) c.574G>A c.*315G>A (n.*315G>A) c.1266G>A (p.Trp422Ter) c.1071+210G>A (n.1071+210G>A) c.1128G>A (p.Trp376Ter) c.72+210G>A (n.72+210G>A) c.1143G>A (p.Trp381Ter) n.747G>A n.3577G>A c.1131G>A (p.Trp377Ter) c.1140G>A (p.Trp380Ter) n.457G>A c.*1010G>A (n.*1010G>A) c.471+210G>A (n.471+210G>A) c.480G>A (p.Trp160Ter) | |
| 11 | g.1753594C>A | CA379092531 | CTSD | c.1148G>T (p.Trp383Leu) c.1043G>T (p.Trp348Leu) c.573G>T c.*314G>T (n.*314G>T) c.1265G>T (p.Trp422Leu) c.1071+209G>T (n.1071+209G>T) c.1127G>T (p.Trp376Leu) c.72+209G>T (n.72+209G>T) c.1142G>T (p.Trp381Leu) n.746G>T n.3576G>T c.1130G>T (p.Trp377Leu) c.1139G>T (p.Trp380Leu) n.456G>T c.*1009G>T (n.*1009G>T) c.471+209G>T (n.471+209G>T) c.479G>T (p.Trp160Leu) | gnomAD v4 |
| 11 | g.1753594C>G | CA379092533 | CTSD | c.1148G>C (p.Trp383Ser) c.1043G>C (p.Trp348Ser) c.573G>C c.*314G>C (n.*314G>C) c.1265G>C (p.Trp422Ser) c.1071+209G>C (n.1071+209G>C) c.1127G>C (p.Trp376Ser) c.72+209G>C (n.72+209G>C) c.1142G>C (p.Trp381Ser) n.746G>C n.3576G>C c.1130G>C (p.Trp377Ser) c.1139G>C (p.Trp380Ser) n.456G>C c.*1009G>C (n.*1009G>C) c.471+209G>C (n.471+209G>C) c.479G>C (p.Trp160Ser) | |
| 11 | g.1753594C>T | CA379092535 | CTSD | c.1148G>A (p.Trp383Ter) c.1043G>A (p.Trp348Ter) c.573G>A c.*314G>A (n.*314G>A) c.1265G>A (p.Trp422Ter) c.1071+209G>A (n.1071+209G>A) c.1127G>A (p.Trp376Ter) c.72+209G>A (n.72+209G>A) c.1142G>A (p.Trp381Ter) n.746G>A n.3576G>A c.1130G>A (p.Trp377Ter) c.1139G>A (p.Trp380Ter) n.456G>A c.*1009G>A (n.*1009G>A) c.471+209G>A (n.471+209G>A) c.479G>A (p.Trp160Ter) | |
| 11 | g.1753594_1753595del | CA2573146013 | CTSD | c.1147_1148del (p.Trp383AspfsTer15) c.1042_1043del (p.Trp348AspfsTer15) c.572_573del c.*313_*314del (n.*313_*314del) c.1264_1265del (p.Trp422AspfsTer15) c.1071+208_1071+209del (n.1071+208_1071+209del) c.1126_1127del (p.Trp376AspfsTer15) c.72+208_72+209del (n.72+208_72+209del) c.1141_1142del (p.Trp381AspfsTer15) n.745_746del n.3575_3576del c.1129_1130del (p.Trp377AspfsTer15) c.1138_1139del (p.Trp380AspfsTer15) n.455_456del c.*1008_*1009del (n.*1008_*1009del) c.471+208_471+209del (n.471+208_471+209del) c.478_479del (p.Trp160AspfsTer15) | ClinVar dbSNP |
| 11 | g.1753595A>C | CA379092537 | CTSD | c.1147T>G (p.Trp383Gly) c.1042T>G (p.Trp348Gly) c.572T>G c.*313T>G (n.*313T>G) c.1264T>G (p.Trp422Gly) c.1071+208T>G (n.1071+208T>G) c.1126T>G (p.Trp376Gly) c.72+208T>G (n.72+208T>G) c.1141T>G (p.Trp381Gly) n.745T>G n.3575T>G c.1129T>G (p.Trp377Gly) c.1138T>G (p.Trp380Gly) n.455T>G c.*1008T>G (n.*1008T>G) c.471+208T>G (n.471+208T>G) c.478T>G (p.Trp160Gly) | |
| 11 | g.1753595A>G | CA379092539 | CTSD | c.1147T>C (p.Trp383Arg) c.1042T>C (p.Trp348Arg) c.572T>C c.*313T>C (n.*313T>C) c.1264T>C (p.Trp422Arg) c.1071+208T>C (n.1071+208T>C) c.1126T>C (p.Trp376Arg) c.72+208T>C (n.72+208T>C) c.1141T>C (p.Trp381Arg) n.745T>C n.3575T>C c.1129T>C (p.Trp377Arg) c.1138T>C (p.Trp380Arg) n.455T>C c.*1008T>C (n.*1008T>C) c.471+208T>C (n.471+208T>C) c.478T>C (p.Trp160Arg) | |
| 11 | g.1753595A>T | CA379092540 | CTSD | c.1147T>A (p.Trp383Arg) c.1042T>A (p.Trp348Arg) c.572T>A c.*313T>A (n.*313T>A) c.1264T>A (p.Trp422Arg) c.1071+208T>A (n.1071+208T>A) c.1126T>A (p.Trp376Arg) c.72+208T>A (n.72+208T>A) c.1141T>A (p.Trp381Arg) n.745T>A n.3575T>A c.1129T>A (p.Trp377Arg) c.1138T>A (p.Trp380Arg) n.455T>A c.*1008T>A (n.*1008T>A) c.471+208T>A (n.471+208T>A) c.478T>A (p.Trp160Arg) | |
| 11 | g.1753597_1753598del | CA2580616896 | CTSD | c.1146_1147del (p.Trp383AspfsTer15) c.1041_1042del (p.Trp348AspfsTer15) c.571_572del c.*312_*313del (n.*312_*313del) c.1263_1264del (p.Trp422AspfsTer15) c.1071+207_1071+208del (n.1071+207_1071+208del) c.1125_1126del (p.Trp376AspfsTer15) c.72+207_72+208del (n.72+207_72+208del) c.1140_1141del (p.Trp381AspfsTer15) n.744_745del n.3574_3575del c.1128_1129del (p.Trp377AspfsTer15) c.1137_1138del (p.Trp380AspfsTer15) n.454_455del c.*1007_*1008del (n.*1007_*1008del) c.471+207_471+208del (n.471+207_471+208del) c.477_478del (p.Trp160AspfsTer15) | ClinVar dbSNP |
| 11 | g.1753596G>A | CA472140461 | CTSD | c.1146C>T (p.Leu382=) c.1041C>T (p.Leu347=) c.571C>T c.*312C>T (n.*312C>T) c.1263C>T (p.Leu421=) c.1071+207C>T (n.1071+207C>T) c.1125C>T (p.Leu375=) c.72+207C>T (n.72+207C>T) c.1140C>T (p.Leu380=) n.744C>T n.3574C>T c.1128C>T (p.Leu376=) c.1137C>T (p.Leu379=) n.454C>T c.*1007C>T (n.*1007C>T) c.471+207C>T (n.471+207C>T) c.477C>T (p.Leu159=) | |
| 11 | g.1753596G>C | CA216168676 | CTSD | c.1146C>G (p.Leu382=) c.1041C>G (p.Leu347=) c.571C>G c.*312C>G (n.*312C>G) c.1263C>G (p.Leu421=) c.1071+207C>G (n.1071+207C>G) c.1125C>G (p.Leu375=) c.72+207C>G (n.72+207C>G) c.1140C>G (p.Leu380=) n.744C>G n.3574C>G c.1128C>G (p.Leu376=) c.1137C>G (p.Leu379=) n.454C>G c.*1007C>G (n.*1007C>G) c.471+207C>G (n.471+207C>G) c.477C>G (p.Leu159=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.1753596G= | CA1947825128 | CTSD | c.1146C= (p.Leu382=) c.1041C= (p.Leu347=) c.571C= c.*312C= (n.*312C=) c.1263C= (p.Leu421=) c.1071+207C= (n.1071+207C=) c.1125C= (p.Leu375=) c.72+207C= (n.72+207C=) c.1140C= (p.Leu380=) n.744C= n.3574C= c.1128C= (p.Leu376=) c.1137C= (p.Leu379=) n.454C= c.*1007C= (n.*1007C=) c.471+207C= (n.471+207C=) c.477C= (p.Leu159=) | |
| 11 | g.1753596G>T | CA472140458 | CTSD | c.1146C>A (p.Leu382=) c.1041C>A (p.Leu347=) c.571C>A c.*312C>A (n.*312C>A) c.1263C>A (p.Leu421=) c.1071+207C>A (n.1071+207C>A) c.1125C>A (p.Leu375=) c.72+207C>A (n.72+207C>A) c.1140C>A (p.Leu380=) n.744C>A n.3574C>A c.1128C>A (p.Leu376=) c.1137C>A (p.Leu379=) n.454C>A c.*1007C>A (n.*1007C>A) c.471+207C>A (n.471+207C>A) c.477C>A (p.Leu159=) | |
| 11 | g.1753597A>C | CA379092541 | CTSD | c.1145T>G (p.Leu382Arg) c.1040T>G (p.Leu347Arg) c.570T>G c.*311T>G (n.*311T>G) c.1262T>G (p.Leu421Arg) c.1071+206T>G (n.1071+206T>G) c.1124T>G (p.Leu375Arg) c.72+206T>G (n.72+206T>G) c.1139T>G (p.Leu380Arg) n.743T>G n.3573T>G c.1127T>G (p.Leu376Arg) c.1136T>G (p.Leu379Arg) n.453T>G c.*1006T>G (n.*1006T>G) c.471+206T>G (n.471+206T>G) c.476T>G (p.Leu159Arg) | |
| 11 | g.1753597A>G | CA379092543 | CTSD | c.1145T>C (p.Leu382Pro) c.1040T>C (p.Leu347Pro) c.570T>C c.*311T>C (n.*311T>C) c.1262T>C (p.Leu421Pro) c.1071+206T>C (n.1071+206T>C) c.1124T>C (p.Leu375Pro) c.72+206T>C (n.72+206T>C) c.1139T>C (p.Leu380Pro) n.743T>C n.3573T>C c.1127T>C (p.Leu376Pro) c.1136T>C (p.Leu379Pro) n.453T>C c.*1006T>C (n.*1006T>C) c.471+206T>C (n.471+206T>C) c.476T>C (p.Leu159Pro) | |
| 11 | g.1753597A>T | CA379092542 | CTSD | c.1145T>A (p.Leu382His) c.1040T>A (p.Leu347His) c.570T>A c.*311T>A (n.*311T>A) c.1262T>A (p.Leu421His) c.1071+206T>A (n.1071+206T>A) c.1124T>A (p.Leu375His) c.72+206T>A (n.72+206T>A) c.1139T>A (p.Leu380His) n.743T>A n.3573T>A c.1127T>A (p.Leu376His) c.1136T>A (p.Leu379His) n.453T>A c.*1006T>A (n.*1006T>A) c.471+206T>A (n.471+206T>A) c.476T>A (p.Leu159His) | |
| 11 | g.1753598G>A | CA379092544 | CTSD | c.1144C>T (p.Leu382Phe) c.1039C>T (p.Leu347Phe) c.569C>T c.*310C>T (n.*310C>T) c.1261C>T (p.Leu421Phe) c.1071+205C>T (n.1071+205C>T) c.1123C>T (p.Leu375Phe) c.72+205C>T (n.72+205C>T) c.1138C>T (p.Leu380Phe) n.742C>T n.3572C>T c.1126C>T (p.Leu376Phe) c.1135C>T (p.Leu379Phe) n.452C>T c.*1005C>T (n.*1005C>T) c.471+205C>T (n.471+205C>T) c.475C>T (p.Leu159Phe) | |
| 11 | g.1753598G>C | CA379092546 | CTSD | c.1144C>G (p.Leu382Val) c.1039C>G (p.Leu347Val) c.569C>G c.*310C>G (n.*310C>G) c.1261C>G (p.Leu421Val) c.1071+205C>G (n.1071+205C>G) c.1123C>G (p.Leu375Val) c.72+205C>G (n.72+205C>G) c.1138C>G (p.Leu380Val) n.742C>G n.3572C>G c.1126C>G (p.Leu376Val) c.1135C>G (p.Leu379Val) n.452C>G c.*1005C>G (n.*1005C>G) c.471+205C>G (n.471+205C>G) c.475C>G (p.Leu159Val) | |
| 11 | g.1753598G>T | CA379092545 | CTSD | c.1144C>A (p.Leu382Ile) c.1039C>A (p.Leu347Ile) c.569C>A c.*310C>A (n.*310C>A) c.1261C>A (p.Leu421Ile) c.1071+205C>A (n.1071+205C>A) c.1123C>A (p.Leu375Ile) c.72+205C>A (n.72+205C>A) c.1138C>A (p.Leu380Ile) n.742C>A n.3572C>A c.1126C>A (p.Leu376Ile) c.1135C>A (p.Leu379Ile) n.452C>A c.*1005C>A (n.*1005C>A) c.471+205C>A (n.471+205C>A) c.475C>A (p.Leu159Ile) | |
| 11 | g.1753599T>A | CA472140478 | CTSD | c.1143A>T (p.Pro381=) c.1038A>T (p.Pro346=) c.568A>T c.*309A>T (n.*309A>T) c.1260A>T (p.Pro420=) c.1071+204A>T (n.1071+204A>T) c.1122A>T (p.Pro374=) c.72+204A>T (n.72+204A>T) c.1137A>T (p.Pro379=) n.741A>T n.3571A>T c.1125A>T (p.Pro375=) c.1134A>T (p.Pro378=) n.451A>T c.*1004A>T (n.*1004A>T) c.471+204A>T (n.471+204A>T) c.474A>T (p.Pro158=) | |
| 11 | g.1753599T>C | CA472140481 | CTSD | c.1143A>G (p.Pro381=) c.1038A>G (p.Pro346=) c.568A>G c.*309A>G (n.*309A>G) c.1260A>G (p.Pro420=) c.1071+204A>G (n.1071+204A>G) c.1122A>G (p.Pro374=) c.72+204A>G (n.72+204A>G) c.1137A>G (p.Pro379=) n.741A>G n.3571A>G c.1125A>G (p.Pro375=) c.1134A>G (p.Pro378=) n.451A>G c.*1004A>G (n.*1004A>G) c.471+204A>G (n.471+204A>G) c.474A>G (p.Pro158=) | dbSNP gnomAD v4 |
| 11 | g.1753599T>G | CA472140485 | CTSD | c.1143A>C (p.Pro381=) c.1038A>C (p.Pro346=) c.568A>C c.*309A>C (n.*309A>C) c.1260A>C (p.Pro420=) c.1071+204A>C (n.1071+204A>C) c.1122A>C (p.Pro374=) c.72+204A>C (n.72+204A>C) c.1137A>C (p.Pro379=) n.741A>C n.3571A>C c.1125A>C (p.Pro375=) c.1134A>C (p.Pro378=) n.451A>C c.*1004A>C (n.*1004A>C) c.471+204A>C (n.471+204A>C) c.474A>C (p.Pro158=) | |
| 11 | g.1753599T= | CA1947825129 | CTSD | c.1143A= (p.Pro381=) c.1038A= (p.Pro346=) c.568A= c.*309A= (n.*309A=) c.1260A= (p.Pro420=) c.1071+204A= (n.1071+204A=) c.1122A= (p.Pro374=) c.72+204A= (n.72+204A=) c.1137A= (p.Pro379=) n.741A= n.3571A= c.1125A= (p.Pro375=) c.1134A= (p.Pro378=) n.451A= c.*1004A= (n.*1004A=) c.471+204A= (n.471+204A=) c.474A= (p.Pro158=) | |
| 11 | g.1753600G>A | CA379092548 | CTSD | c.1142C>T (p.Pro381Leu) c.1037C>T (p.Pro346Leu) c.567C>T c.*308C>T (n.*308C>T) c.1259C>T (p.Pro420Leu) c.1071+203C>T (n.1071+203C>T) c.1121C>T (p.Pro374Leu) c.72+203C>T (n.72+203C>T) c.1136C>T (p.Pro379Leu) n.740C>T n.3570C>T c.1124C>T (p.Pro375Leu) c.1133C>T (p.Pro378Leu) n.450C>T c.*1003C>T (n.*1003C>T) c.471+203C>T (n.471+203C>T) c.473C>T (p.Pro158Leu) | |
| 11 | g.1753600G>C | CA379092550 | CTSD | c.1142C>G (p.Pro381Arg) c.1037C>G (p.Pro346Arg) c.567C>G c.*308C>G (n.*308C>G) c.1259C>G (p.Pro420Arg) c.1071+203C>G (n.1071+203C>G) c.1121C>G (p.Pro374Arg) c.72+203C>G (n.72+203C>G) c.1136C>G (p.Pro379Arg) n.740C>G n.3570C>G c.1124C>G (p.Pro375Arg) c.1133C>G (p.Pro378Arg) n.450C>G c.*1003C>G (n.*1003C>G) c.471+203C>G (n.471+203C>G) c.473C>G (p.Pro158Arg) | |
| 11 | g.1753600G>T | CA379092551 | CTSD | c.1142C>A (p.Pro381Gln) c.1037C>A (p.Pro346Gln) c.567C>A c.*308C>A (n.*308C>A) c.1259C>A (p.Pro420Gln) c.1071+203C>A (n.1071+203C>A) c.1121C>A (p.Pro374Gln) c.72+203C>A (n.72+203C>A) c.1136C>A (p.Pro379Gln) n.740C>A n.3570C>A c.1124C>A (p.Pro375Gln) c.1133C>A (p.Pro378Gln) n.450C>A c.*1003C>A (n.*1003C>A) c.471+203C>A (n.471+203C>A) c.473C>A (p.Pro158Gln) | |
| 11 | g.1753601del | CA2574736128 | CTSD | c.1142del (p.Pro381HisfsTer?) c.1037del (p.Pro346HisfsTer?) c.567del c.*308del (n.*308del) c.1259del (p.Pro420HisfsTer?) c.1071+203del (n.1071+203del) c.1121del (p.Pro374HisfsTer?) c.72+203del (n.72+203del) c.1136del (p.Pro379HisfsTer?) n.740del n.3570del c.1124del (p.Pro375HisfsTer?) c.1133del (p.Pro378HisfsTer?) n.450del c.*1003del (n.*1003del) c.471+203del (n.471+203del) c.473del (p.Pro158HisfsTer?) | ClinVar |
| 11 | g.1753601G>A | CA379092556 | CTSD | c.1141C>T (p.Pro381Ser) c.1036C>T (p.Pro346Ser) c.566C>T c.*307C>T (n.*307C>T) c.1258C>T (p.Pro420Ser) c.1071+202C>T (n.1071+202C>T) c.1120C>T (p.Pro374Ser) c.72+202C>T (n.72+202C>T) c.1135C>T (p.Pro379Ser) n.739C>T n.3569C>T c.1123C>T (p.Pro375Ser) c.1132C>T (p.Pro378Ser) n.449C>T c.*1002C>T (n.*1002C>T) c.471+202C>T (n.471+202C>T) c.472C>T (p.Pro158Ser) | gnomAD v4 |
| 11 | g.1753601G>C | CA379092558 | CTSD | c.1141C>G (p.Pro381Ala) c.1036C>G (p.Pro346Ala) c.566C>G c.*307C>G (n.*307C>G) c.1258C>G (p.Pro420Ala) c.1071+202C>G (n.1071+202C>G) c.1120C>G (p.Pro374Ala) c.72+202C>G (n.72+202C>G) c.1135C>G (p.Pro379Ala) n.739C>G n.3569C>G c.1123C>G (p.Pro375Ala) c.1132C>G (p.Pro378Ala) n.449C>G c.*1002C>G (n.*1002C>G) c.471+202C>G (n.471+202C>G) c.472C>G (p.Pro158Ala) | |
| 11 | g.1753601G>T | CA379092559 | CTSD | c.1141C>A (p.Pro381Thr) c.1036C>A (p.Pro346Thr) c.566C>A c.*307C>A (n.*307C>A) c.1258C>A (p.Pro420Thr) c.1071+202C>A (n.1071+202C>A) c.1120C>A (p.Pro374Thr) c.72+202C>A (n.72+202C>A) c.1135C>A (p.Pro379Thr) n.739C>A n.3569C>A c.1123C>A (p.Pro375Thr) c.1132C>A (p.Pro378Thr) n.449C>A c.*1002C>A (n.*1002C>A) c.471+202C>A (n.471+202C>A) c.472C>A (p.Pro158Thr) | |
| 11 | g.1753602C>A | CA472140504 | CTSD | c.1140G>T (p.Gly380=) c.1035G>T (p.Gly345=) c.565G>T c.*306G>T (n.*306G>T) c.1257G>T (p.Gly419=) c.1071+201G>T (n.1071+201G>T) c.1119G>T (p.Gly373=) c.72+201G>T (n.72+201G>T) c.1134G>T (p.Gly378=) n.738G>T n.3568G>T c.1122G>T (p.Gly374=) c.1131G>T (p.Gly377=) n.448G>T c.*1001G>T (n.*1001G>T) c.471+201G>T (n.471+201G>T) c.471G>T (p.Gly157=) | gnomAD v4 |
| 11 | g.1753602C= | CA1947825130 | CTSD | c.1140G= (p.Gly380=) c.1035G= (p.Gly345=) c.565G= c.*306G= (n.*306G=) c.1257G= (p.Gly419=) c.1071+201G= (n.1071+201G=) c.1119G= (p.Gly373=) c.72+201G= (n.72+201G=) c.1134G= (p.Gly378=) n.738G= n.3568G= c.1122G= (p.Gly374=) c.1131G= (p.Gly377=) n.448G= c.*1001G= (n.*1001G=) c.471+201G= (n.471+201G=) c.471G= (p.Gly157=) | |
| 11 | g.1753602C>G | CA472140506 | CTSD | c.1140G>C (p.Gly380=) c.1035G>C (p.Gly345=) c.565G>C c.*306G>C (n.*306G>C) c.1257G>C (p.Gly419=) c.1071+201G>C (n.1071+201G>C) c.1119G>C (p.Gly373=) c.72+201G>C (n.72+201G>C) c.1134G>C (p.Gly378=) n.738G>C n.3568G>C c.1122G>C (p.Gly374=) c.1131G>C (p.Gly377=) n.448G>C c.*1001G>C (n.*1001G>C) c.471+201G>C (n.471+201G>C) c.471G>C (p.Gly157=) | |
| 11 | g.1753602C>T | CA5813888 | CTSD | c.1140G>A (p.Gly380=) c.1035G>A (p.Gly345=) c.565G>A c.*306G>A (n.*306G>A) c.1257G>A (p.Gly419=) c.1071+201G>A (n.1071+201G>A) c.1119G>A (p.Gly373=) c.72+201G>A (n.72+201G>A) c.1134G>A (p.Gly378=) n.738G>A n.3568G>A c.1122G>A (p.Gly374=) c.1131G>A (p.Gly377=) n.448G>A c.*1001G>A (n.*1001G>A) c.471+201G>A (n.471+201G>A) c.471G>A (p.Gly157=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753603C>A | CA379092561 | CTSD | c.1139G>T (p.Gly380Val) c.1034G>T (p.Gly345Val) c.564G>T c.*305G>T (n.*305G>T) c.1256G>T (p.Gly419Val) c.1071+200G>T (n.1071+200G>T) c.1118G>T (p.Gly373Val) c.72+200G>T (n.72+200G>T) c.1133G>T (p.Gly378Val) n.737G>T n.3567G>T c.1121G>T (p.Gly374Val) c.1130G>T (p.Gly377Val) n.447G>T c.*1000G>T (n.*1000G>T) c.471+200G>T (n.471+200G>T) c.470G>T (p.Gly157Val) | COSMIC |
| 11 | g.1753603C= | CA1947825131 | CTSD | c.1139G= (p.Gly380=) c.1034G= (p.Gly345=) c.564G= c.*305G= (n.*305G=) c.1256G= (p.Gly419=) c.1071+200G= (n.1071+200G=) c.1118G= (p.Gly373=) c.72+200G= (n.72+200G=) c.1133G= (p.Gly378=) n.737G= n.3567G= c.1121G= (p.Gly374=) c.1130G= (p.Gly377=) n.447G= c.*1000G= (n.*1000G=) c.471+200G= (n.471+200G=) c.470G= (p.Gly157=) | |
| 11 | g.1753603C>G | CA379092563 | CTSD | c.1139G>C (p.Gly380Ala) c.1034G>C (p.Gly345Ala) c.564G>C c.*305G>C (n.*305G>C) c.1256G>C (p.Gly419Ala) c.1071+200G>C (n.1071+200G>C) c.1118G>C (p.Gly373Ala) c.72+200G>C (n.72+200G>C) c.1133G>C (p.Gly378Ala) n.737G>C n.3567G>C c.1121G>C (p.Gly374Ala) c.1130G>C (p.Gly377Ala) n.447G>C c.*1000G>C (n.*1000G>C) c.471+200G>C (n.471+200G>C) c.470G>C (p.Gly157Ala) | |
| 11 | g.1753603C>T | CA379092565 | CTSD | c.1139G>A (p.Gly380Glu) c.1034G>A (p.Gly345Glu) c.564G>A c.*305G>A (n.*305G>A) c.1256G>A (p.Gly419Glu) c.1071+200G>A (n.1071+200G>A) c.1118G>A (p.Gly373Glu) c.72+200G>A (n.72+200G>A) c.1133G>A (p.Gly378Glu) n.737G>A n.3567G>A c.1121G>A (p.Gly374Glu) c.1130G>A (p.Gly377Glu) n.447G>A c.*1000G>A (n.*1000G>A) c.471+200G>A (n.471+200G>A) c.470G>A (p.Gly157Glu) | dbSNP |
| 11 | g.1753604C>A | CA379092570 | CTSD | c.1138G>T (p.Gly380Trp) c.1033G>T (p.Gly345Trp) c.563G>T c.*304G>T (n.*304G>T) c.1255G>T (p.Gly419Trp) c.1071+199G>T (n.1071+199G>T) c.1117G>T (p.Gly373Trp) c.72+199G>T (n.72+199G>T) c.1132G>T (p.Gly378Trp) n.736G>T n.3566G>T c.1120G>T (p.Gly374Trp) c.1129G>T (p.Gly377Trp) n.446G>T c.*999G>T (n.*999G>T) c.471+199G>T (n.471+199G>T) c.469G>T (p.Gly157Trp) | gnomAD v4 |
| 11 | g.1753604C= | CA1947825132 | CTSD | c.1138G= (p.Gly380=) c.1033G= (p.Gly345=) c.563G= c.*304G= (n.*304G=) c.1255G= (p.Gly419=) c.1071+199G= (n.1071+199G=) c.1117G= (p.Gly373=) c.72+199G= (n.72+199G=) c.1132G= (p.Gly378=) n.736G= n.3566G= c.1120G= (p.Gly374=) c.1129G= (p.Gly377=) n.446G= c.*999G= (n.*999G=) c.471+199G= (n.471+199G=) c.469G= (p.Gly157=) | |
| 11 | g.1753604C>G | CA379092568 | CTSD | c.1138G>C (p.Gly380Arg) c.1033G>C (p.Gly345Arg) c.563G>C c.*304G>C (n.*304G>C) c.1255G>C (p.Gly419Arg) c.1071+199G>C (n.1071+199G>C) c.1117G>C (p.Gly373Arg) c.72+199G>C (n.72+199G>C) c.1132G>C (p.Gly378Arg) n.736G>C n.3566G>C c.1120G>C (p.Gly374Arg) c.1129G>C (p.Gly377Arg) n.446G>C c.*999G>C (n.*999G>C) c.471+199G>C (n.471+199G>C) c.469G>C (p.Gly157Arg) | |
| 11 | g.1753604C>T | CA216168695 | CTSD | c.1138G>A (p.Gly380Arg) c.1033G>A (p.Gly345Arg) c.563G>A c.*304G>A (n.*304G>A) c.1255G>A (p.Gly419Arg) c.1071+199G>A (n.1071+199G>A) c.1117G>A (p.Gly373Arg) c.72+199G>A (n.72+199G>A) c.1132G>A (p.Gly378Arg) n.736G>A n.3566G>A c.1120G>A (p.Gly374Arg) c.1129G>A (p.Gly377Arg) n.446G>A c.*999G>A (n.*999G>A) c.471+199G>A (n.471+199G>A) c.469G>A (p.Gly157Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753605G>A | CA152533 | CTSD | c.1137C>T (p.Ser379=) c.1032C>T (p.Ser344=) c.562C>T c.*303C>T (n.*303C>T) c.1254C>T (p.Ser418=) c.1071+198C>T (n.1071+198C>T) c.1116C>T (p.Ser372=) c.72+198C>T (n.72+198C>T) c.1131C>T (p.Ser377=) n.735C>T n.3565C>T c.1119C>T (p.Ser373=) c.1128C>T (p.Ser376=) n.445C>T c.*998C>T (n.*998C>T) c.471+198C>T (n.471+198C>T) c.468C>T (p.Ser156=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1753605G>C | CA379092571 | CTSD | c.1137C>G (p.Ser379Arg) c.1032C>G (p.Ser344Arg) c.562C>G c.*303C>G (n.*303C>G) c.1254C>G (p.Ser418Arg) c.1071+198C>G (n.1071+198C>G) c.1116C>G (p.Ser372Arg) c.72+198C>G (n.72+198C>G) c.1131C>G (p.Ser377Arg) n.735C>G n.3565C>G c.1119C>G (p.Ser373Arg) c.1128C>G (p.Ser376Arg) n.445C>G c.*998C>G (n.*998C>G) c.471+198C>G (n.471+198C>G) c.468C>G (p.Ser156Arg) | |
| 11 | g.1753605G= | CA1947825133 | CTSD | c.1137C= (p.Ser379=) c.1032C= (p.Ser344=) c.562C= c.*303C= (n.*303C=) c.1254C= (p.Ser418=) c.1071+198C= (n.1071+198C=) c.1116C= (p.Ser372=) c.72+198C= (n.72+198C=) c.1131C= (p.Ser377=) n.735C= n.3565C= c.1119C= (p.Ser373=) c.1128C= (p.Ser376=) n.445C= c.*998C= (n.*998C=) c.471+198C= (n.471+198C=) c.468C= (p.Ser156=) | |
| 11 | g.1753605G>T | CA379092572 | CTSD | c.1137C>A (p.Ser379Arg) c.1032C>A (p.Ser344Arg) c.562C>A c.*303C>A (n.*303C>A) c.1254C>A (p.Ser418Arg) c.1071+198C>A (n.1071+198C>A) c.1116C>A (p.Ser372Arg) c.72+198C>A (n.72+198C>A) c.1131C>A (p.Ser377Arg) n.735C>A n.3565C>A c.1119C>A (p.Ser373Arg) c.1128C>A (p.Ser376Arg) n.445C>A c.*998C>A (n.*998C>A) c.471+198C>A (n.471+198C>A) c.468C>A (p.Ser156Arg) | gnomAD v4 |