| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1757392C>A | CA5814122 | CTSD | c.636G>T (p.Leu212=) c.531G>T (p.Leu177=) c.61G>T c.615G>T (p.Leu205=) c.630G>T (p.Leu210=) n.234G>T n.3064G>T n.1031G>T c.*497G>T (n.*497G>T) c.36G>T (p.Leu12=) c.591G>T (p.Leu197=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757392C= | CA1947827593 | CTSD | c.636G= (p.Leu212=) c.531G= (p.Leu177=) c.61G= c.615G= (p.Leu205=) c.630G= (p.Leu210=) n.234G= n.3064G= n.1031G= c.*497G= (n.*497G=) c.36G= (p.Leu12=) c.591G= (p.Leu197=) | |
| 11 | g.1757392C>G | CA471985373 | CTSD | c.636G>C (p.Leu212=) c.531G>C (p.Leu177=) c.61G>C c.615G>C (p.Leu205=) c.630G>C (p.Leu210=) n.234G>C n.3064G>C n.1031G>C c.*497G>C (n.*497G>C) c.36G>C (p.Leu12=) c.591G>C (p.Leu197=) | |
| 11 | g.1757392C>T | CA471985371 | CTSD | c.636G>A (p.Leu212=) c.531G>A (p.Leu177=) c.61G>A c.615G>A (p.Leu205=) c.630G>A (p.Leu210=) n.234G>A n.3064G>A n.1031G>A c.*497G>A (n.*497G>A) c.36G>A (p.Leu12=) c.591G>A (p.Leu197=) | |
| 11 | g.1757393A>C | CA379095968 | CTSD | c.635T>G (p.Leu212Arg) c.530T>G (p.Leu177Arg) c.60T>G c.614T>G (p.Leu205Arg) c.629T>G (p.Leu210Arg) n.233T>G n.3063T>G n.1030T>G c.*496T>G (n.*496T>G) c.35T>G (p.Leu12Arg) c.590T>G (p.Leu197Arg) | |
| 11 | g.1757393A>G | CA379095969 | CTSD | c.635T>C (p.Leu212Pro) c.530T>C (p.Leu177Pro) c.60T>C c.614T>C (p.Leu205Pro) c.629T>C (p.Leu210Pro) n.233T>C n.3063T>C n.1030T>C c.*496T>C (n.*496T>C) c.35T>C (p.Leu12Pro) c.590T>C (p.Leu197Pro) | |
| 11 | g.1757393A>T | CA379095970 | CTSD | c.635T>A (p.Leu212Gln) c.530T>A (p.Leu177Gln) c.60T>A c.614T>A (p.Leu205Gln) c.629T>A (p.Leu210Gln) n.233T>A n.3063T>A n.1030T>A c.*496T>A (n.*496T>A) c.35T>A (p.Leu12Gln) c.590T>A (p.Leu197Gln) | |
| 11 | g.1757394G>A | CA471985378 | CTSD | c.634C>T (p.Leu212=) c.529C>T (p.Leu177=) c.59C>T c.613C>T (p.Leu205=) c.628C>T (p.Leu210=) n.232C>T n.3062C>T n.1029C>T c.*495C>T (n.*495C>T) c.34C>T (p.Leu12=) c.589C>T (p.Leu197=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.1757394G>C | CA379095972 | CTSD | c.634C>G (p.Leu212Val) c.529C>G (p.Leu177Val) c.59C>G c.613C>G (p.Leu205Val) c.628C>G (p.Leu210Val) n.232C>G n.3062C>G n.1029C>G c.*495C>G (n.*495C>G) c.34C>G (p.Leu12Val) c.589C>G (p.Leu197Val) | |
| 11 | g.1757394G= | CA1947827594 | CTSD | c.634C= (p.Leu212=) c.529C= (p.Leu177=) c.59C= c.613C= (p.Leu205=) c.628C= (p.Leu210=) n.232C= n.3062C= n.1029C= c.*495C= (n.*495C=) c.34C= (p.Leu12=) c.589C= (p.Leu197=) | |
| 11 | g.1757394G>T | CA379095971 | CTSD | c.634C>A (p.Leu212Met) c.529C>A (p.Leu177Met) c.59C>A c.613C>A (p.Leu205Met) c.628C>A (p.Leu210Met) n.232C>A n.3062C>A n.1029C>A c.*495C>A (n.*495C>A) c.34C>A (p.Leu12Met) c.589C>A (p.Leu197Met) | |
| 11 | g.1757395C>A | CA471985386 | CTSD | c.633G>T (p.Val211=) c.528G>T (p.Val176=) c.58G>T c.612G>T (p.Val204=) c.627G>T (p.Val209=) n.231G>T n.3061G>T n.1028G>T c.*494G>T (n.*494G>T) c.33G>T (p.Val11=) c.588G>T (p.Val196=) | |
| 11 | g.1757395C= | CA1947827595 | CTSD | c.633G= (p.Val211=) c.528G= (p.Val176=) c.58G= c.612G= (p.Val204=) c.627G= (p.Val209=) n.231G= n.3061G= n.1028G= c.*494G= (n.*494G=) c.33G= (p.Val11=) c.588G= (p.Val196=) | |
| 11 | g.1757395C>G | CA471985389 | CTSD | c.633G>C (p.Val211=) c.528G>C (p.Val176=) c.58G>C c.612G>C (p.Val204=) c.627G>C (p.Val209=) n.231G>C n.3061G>C n.1028G>C c.*494G>C (n.*494G>C) c.33G>C (p.Val11=) c.588G>C (p.Val196=) | ClinVar dbSNP |
| 11 | g.1757395C>T | CA471985390 | CTSD | c.633G>A (p.Val211=) c.528G>A (p.Val176=) c.58G>A c.612G>A (p.Val204=) c.627G>A (p.Val209=) n.231G>A n.3061G>A n.1028G>A c.*494G>A (n.*494G>A) c.33G>A (p.Val11=) c.588G>A (p.Val196=) | COSMIC |
| 11 | g.1757396A>C | CA379095973 | CTSD | c.632T>G (p.Val211Gly) c.527T>G (p.Val176Gly) c.57T>G c.611T>G (p.Val204Gly) c.626T>G (p.Val209Gly) n.230T>G n.3060T>G n.1027T>G c.*493T>G (n.*493T>G) c.32T>G (p.Val11Gly) c.587T>G (p.Val196Gly) | |
| 11 | g.1757396A>G | CA379095974 | CTSD | c.632T>C (p.Val211Ala) c.527T>C (p.Val176Ala) c.57T>C c.611T>C (p.Val204Ala) c.626T>C (p.Val209Ala) n.230T>C n.3060T>C n.1027T>C c.*493T>C (n.*493T>C) c.32T>C (p.Val11Ala) c.587T>C (p.Val196Ala) | |
| 11 | g.1757396A>T | CA379095975 | CTSD | c.632T>A (p.Val211Glu) c.527T>A (p.Val176Glu) c.57T>A c.611T>A (p.Val204Glu) c.626T>A (p.Val209Glu) n.230T>A n.3060T>A n.1027T>A c.*493T>A (n.*493T>A) c.32T>A (p.Val11Glu) c.587T>A (p.Val196Glu) | |
| 11 | g.1757397C>A | CA379095976 | CTSD | c.631G>T (p.Val211Leu) c.526G>T (p.Val176Leu) c.56G>T c.610G>T (p.Val204Leu) c.625G>T (p.Val209Leu) n.229G>T n.3059G>T n.1026G>T c.*492G>T (n.*492G>T) c.31G>T (p.Val11Leu) c.586G>T (p.Val196Leu) | |
| 11 | g.1757397C= | CA1947827596 | CTSD | c.631G= (p.Val211=) c.526G= (p.Val176=) c.56G= c.610G= (p.Val204=) c.625G= (p.Val209=) n.229G= n.3059G= n.1026G= c.*492G= (n.*492G=) c.31G= (p.Val11=) c.586G= (p.Val196=) | |
| 11 | g.1757397C>G | CA379095977 | CTSD | c.631G>C (p.Val211Leu) c.526G>C (p.Val176Leu) c.56G>C c.610G>C (p.Val204Leu) c.625G>C (p.Val209Leu) n.229G>C n.3059G>C n.1026G>C c.*492G>C (n.*492G>C) c.31G>C (p.Val11Leu) c.586G>C (p.Val196Leu) | |
| 11 | g.1757397C>T | CA5814123 | CTSD | c.631G>A (p.Val211Met) c.526G>A (p.Val176Met) c.56G>A c.610G>A (p.Val204Met) c.625G>A (p.Val209Met) n.229G>A n.3059G>A n.1026G>A c.*492G>A (n.*492G>A) c.31G>A (p.Val11Met) c.586G>A (p.Val196Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757398G>A | CA314320 | CTSD | c.630C>T (p.Asn210=) c.525C>T (p.Asn175=) c.55C>T c.609C>T (p.Asn203=) c.624C>T (p.Asn208=) n.228C>T n.3058C>T n.1025C>T c.*491C>T (n.*491C>T) c.30C>T (p.Asn10=) c.585C>T (p.Asn195=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757398G>C | CA379095978 | CTSD | c.630C>G (p.Asn210Lys) c.525C>G (p.Asn175Lys) c.55C>G c.609C>G (p.Asn203Lys) c.624C>G (p.Asn208Lys) n.228C>G n.3058C>G n.1025C>G c.*491C>G (n.*491C>G) c.30C>G (p.Asn10Lys) c.585C>G (p.Asn195Lys) | |
| 11 | g.1757398G= | CA1947827597 | CTSD | c.630C= (p.Asn210=) c.525C= (p.Asn175=) c.55C= c.609C= (p.Asn203=) c.624C= (p.Asn208=) n.228C= n.3058C= n.1025C= c.*491C= (n.*491C=) c.30C= (p.Asn10=) c.585C= (p.Asn195=) | |
| 11 | g.1757398G>T | CA379095979 | CTSD | c.630C>A (p.Asn210Lys) c.525C>A (p.Asn175Lys) c.55C>A c.609C>A (p.Asn203Lys) c.624C>A (p.Asn208Lys) n.228C>A n.3058C>A n.1025C>A c.*491C>A (n.*491C>A) c.30C>A (p.Asn10Lys) c.585C>A (p.Asn195Lys) | |
| 11 | g.1757399T>A | CA379095980 | CTSD | c.629A>T (p.Asn210Ile) c.524A>T (p.Asn175Ile) c.54A>T c.608A>T (p.Asn203Ile) c.623A>T (p.Asn208Ile) n.227A>T n.3057A>T n.1024A>T c.*490A>T (n.*490A>T) c.29A>T (p.Asn10Ile) c.584A>T (p.Asn195Ile) | |
| 11 | g.1757399T>C | CA379095981 | CTSD | c.629A>G (p.Asn210Ser) c.524A>G (p.Asn175Ser) c.54A>G c.608A>G (p.Asn203Ser) c.623A>G (p.Asn208Ser) n.227A>G n.3057A>G n.1024A>G c.*490A>G (n.*490A>G) c.29A>G (p.Asn10Ser) c.584A>G (p.Asn195Ser) | dbSNP gnomAD v4 |
| 11 | g.1757399T>G | CA379095982 | CTSD | c.629A>C (p.Asn210Thr) c.524A>C (p.Asn175Thr) c.54A>C c.608A>C (p.Asn203Thr) c.623A>C (p.Asn208Thr) n.227A>C n.3057A>C n.1024A>C c.*490A>C (n.*490A>C) c.29A>C (p.Asn10Thr) c.584A>C (p.Asn195Thr) | |
| 11 | g.1757399T= | CA1947827598 | CTSD | c.629A= (p.Asn210=) c.524A= (p.Asn175=) c.54A= c.608A= (p.Asn203=) c.623A= (p.Asn208=) n.227A= n.3057A= n.1024A= c.*490A= (n.*490A=) c.29A= (p.Asn10=) c.584A= (p.Asn195=) | |
| 11 | g.1757400T>A | CA379095985 | CTSD | c.628A>T (p.Asn210Tyr) c.523A>T (p.Asn175Tyr) c.53A>T c.607A>T (p.Asn203Tyr) c.622A>T (p.Asn208Tyr) n.226A>T n.3056A>T n.1023A>T c.*489A>T (n.*489A>T) c.28A>T (p.Asn10Tyr) c.583A>T (p.Asn195Tyr) | |
| 11 | g.1757400T>C | CA379095984 | CTSD | c.628A>G (p.Asn210Asp) c.523A>G (p.Asn175Asp) c.53A>G c.607A>G (p.Asn203Asp) c.622A>G (p.Asn208Asp) n.226A>G n.3056A>G n.1023A>G c.*489A>G (n.*489A>G) c.28A>G (p.Asn10Asp) c.583A>G (p.Asn195Asp) | |
| 11 | g.1757400T>G | CA379095983 | CTSD | c.628A>C (p.Asn210His) c.523A>C (p.Asn175His) c.53A>C c.607A>C (p.Asn203His) c.622A>C (p.Asn208His) n.226A>C n.3056A>C n.1023A>C c.*489A>C (n.*489A>C) c.28A>C (p.Asn10His) c.583A>C (p.Asn195His) | |
| 11 | g.1757401_1757402del | CA2580082690 | CTSD | c.627_628del (p.Asn209LysfsTer?) c.522_523del (p.Asn174LysfsTer?) c.52_53del c.606_607del (p.Asn202LysfsTer?) c.621_622del (p.Asn207LysfsTer?) n.225_226del n.3055_3056del n.1022_1023del c.*488_*489del (n.*488_*489del) c.27_28del (p.Asn9LysfsTer?) c.582_583del (p.Asn194LysfsTer?) | ClinVar |
| 11 | g.1757401G>A | CA5814124 | CTSD | c.627C>T (p.Asn209=) c.522C>T (p.Asn174=) c.52C>T c.606C>T (p.Asn202=) c.621C>T (p.Asn207=) n.225C>T n.3055C>T n.1022C>T c.*488C>T (n.*488C>T) c.27C>T (p.Asn9=) c.582C>T (p.Asn194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757401G>C | CA379095986 | CTSD | c.627C>G (p.Asn209Lys) c.522C>G (p.Asn174Lys) c.52C>G c.606C>G (p.Asn202Lys) c.621C>G (p.Asn207Lys) n.225C>G n.3055C>G n.1022C>G c.*488C>G (n.*488C>G) c.27C>G (p.Asn9Lys) c.582C>G (p.Asn194Lys) | |
| 11 | g.1757401G= | CA1947827599 | CTSD | c.627C= (p.Asn209=) c.522C= (p.Asn174=) c.52C= c.606C= (p.Asn202=) c.621C= (p.Asn207=) n.225C= n.3055C= n.1022C= c.*488C= (n.*488C=) c.27C= (p.Asn9=) c.582C= (p.Asn194=) | |
| 11 | g.1757401G>T | CA379095987 | CTSD | c.627C>A (p.Asn209Lys) c.522C>A (p.Asn174Lys) c.52C>A c.606C>A (p.Asn202Lys) c.621C>A (p.Asn207Lys) n.225C>A n.3055C>A n.1022C>A c.*488C>A (n.*488C>A) c.27C>A (p.Asn9Lys) c.582C>A (p.Asn194Lys) | |
| 11 | g.1757402T>A | CA379095988 | CTSD | c.626A>T (p.Asn209Ile) c.521A>T (p.Asn174Ile) c.51A>T c.605A>T (p.Asn202Ile) c.620A>T (p.Asn207Ile) n.224A>T n.3054A>T n.1021A>T c.*487A>T (n.*487A>T) c.26A>T (p.Asn9Ile) c.581A>T (p.Asn194Ile) | |
| 11 | g.1757402T>C | CA379095989 | CTSD | c.626A>G (p.Asn209Ser) c.521A>G (p.Asn174Ser) c.51A>G c.605A>G (p.Asn202Ser) c.620A>G (p.Asn207Ser) n.224A>G n.3054A>G n.1021A>G c.*487A>G (n.*487A>G) c.26A>G (p.Asn9Ser) c.581A>G (p.Asn194Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757402T>G | CA379095990 | CTSD | c.626A>C (p.Asn209Thr) c.521A>C (p.Asn174Thr) c.51A>C c.605A>C (p.Asn202Thr) c.620A>C (p.Asn207Thr) n.224A>C n.3054A>C n.1021A>C c.*487A>C (n.*487A>C) c.26A>C (p.Asn9Thr) c.581A>C (p.Asn194Thr) | |
| 11 | g.1757402T= | CA1947827600 | CTSD | c.626A= (p.Asn209=) c.521A= (p.Asn174=) c.51A= c.605A= (p.Asn202=) c.620A= (p.Asn207=) n.224A= n.3054A= n.1021A= c.*487A= (n.*487A=) c.26A= (p.Asn9=) c.581A= (p.Asn194=) | |
| 11 | g.1757403T>A | CA379095991 | CTSD | c.625A>T (p.Asn209Tyr) c.520A>T (p.Asn174Tyr) c.50A>T c.604A>T (p.Asn202Tyr) c.619A>T (p.Asn207Tyr) n.223A>T n.3053A>T n.1020A>T c.*486A>T (n.*486A>T) c.25A>T (p.Asn9Tyr) c.580A>T (p.Asn194Tyr) | |
| 11 | g.1757403T>C | CA379095992 | CTSD | c.625A>G (p.Asn209Asp) c.520A>G (p.Asn174Asp) c.50A>G c.604A>G (p.Asn202Asp) c.619A>G (p.Asn207Asp) n.223A>G n.3053A>G n.1020A>G c.*486A>G (n.*486A>G) c.25A>G (p.Asn9Asp) c.580A>G (p.Asn194Asp) | |
| 11 | g.1757403T>G | CA379095993 | CTSD | c.625A>C (p.Asn209His) c.520A>C (p.Asn174His) c.50A>C c.604A>C (p.Asn202His) c.619A>C (p.Asn207His) n.223A>C n.3053A>C n.1020A>C c.*486A>C (n.*486A>C) c.25A>C (p.Asn9His) c.580A>C (p.Asn194His) | |
| 11 | g.1757404G>A | CA471985440 | CTSD | c.624C>T (p.Val208=) c.519C>T (p.Val173=) c.49C>T c.603C>T (p.Val201=) c.618C>T (p.Val206=) n.222C>T n.3052C>T n.1019C>T c.*485C>T (n.*485C>T) c.24C>T (p.Val8=) c.579C>T (p.Val193=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1757404G>C | CA471985443 | CTSD | c.624C>G (p.Val208=) c.519C>G (p.Val173=) c.49C>G c.603C>G (p.Val201=) c.618C>G (p.Val206=) n.222C>G n.3052C>G n.1019C>G c.*485C>G (n.*485C>G) c.24C>G (p.Val8=) c.579C>G (p.Val193=) | |
| 11 | g.1757404G= | CA1947827601 | CTSD | c.624C= (p.Val208=) c.519C= (p.Val173=) c.49C= c.603C= (p.Val201=) c.618C= (p.Val206=) n.222C= n.3052C= n.1019C= c.*485C= (n.*485C=) c.24C= (p.Val8=) c.579C= (p.Val193=) | |
| 11 | g.1757404G>T | CA471985437 | CTSD | c.624C>A (p.Val208=) c.519C>A (p.Val173=) c.49C>A c.603C>A (p.Val201=) c.618C>A (p.Val206=) n.222C>A n.3052C>A n.1019C>A c.*485C>A (n.*485C>A) c.24C>A (p.Val8=) c.579C>A (p.Val193=) | |
| 11 | g.1757405A>C | CA379095994 | CTSD | c.623T>G (p.Val208Gly) c.518T>G (p.Val173Gly) c.48T>G c.602T>G (p.Val201Gly) c.617T>G (p.Val206Gly) n.221T>G n.3051T>G n.1018T>G c.*484T>G (n.*484T>G) c.23T>G (p.Val8Gly) c.578T>G (p.Val193Gly) |