| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543849C>A | CA399605084 | NAGLU | c.1843C>A (p.Arg615Ser) c.1181C>A (n.1181C>A) c.1012C>A (p.Arg338Ser) c.844C>A (p.Arg282Ser) c.1900C>A (p.Arg634Ser) | gnomAD v4 |
| 17 | g.42543849C= | CA2260530485 | NAGLU | c.1843C= (p.Arg615=) c.1181C= (n.1181C=) c.1012C= (p.Arg338=) c.844C= (p.Arg282=) c.1900C= (p.Arg634=) | |
| 17 | g.42543849C>G | CA399605087 | NAGLU | c.1843C>G (p.Arg615Gly) c.1181C>G (n.1181C>G) c.1012C>G (p.Arg338Gly) c.844C>G (p.Arg282Gly) c.1900C>G (p.Arg634Gly) | gnomAD v4 |
| 17 | g.42543849C>T | CA8577106 | NAGLU | c.1843C>T (p.Arg615Cys) c.1181C>T (n.1181C>T) c.1012C>T (p.Arg338Cys) c.844C>T (p.Arg282Cys) c.1900C>T (p.Arg634Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543850G>A | CA290781065 | NAGLU | c.1844G>A (p.Arg615His) c.1182G>A (n.1182G>A) c.1013G>A (p.Arg338His) c.845G>A (p.Arg282His) c.1901G>A (p.Arg634His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543850G>C | CA399605097 | NAGLU | c.1844G>C (p.Arg615Pro) c.1182G>C (n.1182G>C) c.1013G>C (p.Arg338Pro) c.845G>C (p.Arg282Pro) c.1901G>C (p.Arg634Pro) | |
| 17 | g.42543850G= | CA2260530486 | NAGLU | c.1844G= (p.Arg615=) c.1182G= (n.1182G=) c.1013G= (p.Arg338=) c.845G= (p.Arg282=) c.1901G= (p.Arg634=) | |
| 17 | g.42543850G>T | CA399605096 | NAGLU | c.1844G>T (p.Arg615Leu) c.1182G>T (n.1182G>T) c.1013G>T (p.Arg338Leu) c.845G>T (p.Arg282Leu) c.1901G>T (p.Arg634Leu) | gnomAD v4 |
| 17 | g.42543851C>A | CA500217914 | NAGLU | c.1845C>A (p.Arg615=) c.1183C>A (n.1183C>A) c.1014C>A (p.Arg338=) c.846C>A (p.Arg282=) c.1902C>A (p.Arg634=) | |
| 17 | g.42543851C= | CA2260530487 | NAGLU | c.1845C= (p.Arg615=) c.1183C= (n.1183C=) c.1014C= (p.Arg338=) c.846C= (p.Arg282=) c.1902C= (p.Arg634=) | |
| 17 | g.42543851C>G | CA500217908 | NAGLU | c.1845C>G (p.Arg615=) c.1183C>G (n.1183C>G) c.1014C>G (p.Arg338=) c.846C>G (p.Arg282=) c.1902C>G (p.Arg634=) | |
| 17 | g.42543851C>T | CA500217911 | NAGLU | c.1845C>T (p.Arg615=) c.1183C>T (n.1183C>T) c.1014C>T (p.Arg338=) c.846C>T (p.Arg282=) c.1902C>T (p.Arg634=) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543852T>A | CA399605099 | NAGLU | c.1846T>A (p.Phe616Ile) c.1184T>A (n.1184T>A) c.1015T>A (p.Phe339Ile) c.847T>A (p.Phe283Ile) c.1903T>A (p.Phe635Ile) | |
| 17 | g.42543852T>C | CA399605100 | NAGLU | c.1846T>C (p.Phe616Leu) c.1184T>C (n.1184T>C) c.1015T>C (p.Phe339Leu) c.847T>C (p.Phe283Leu) c.1903T>C (p.Phe635Leu) | |
| 17 | g.42543852T>G | CA399605103 | NAGLU | c.1846T>G (p.Phe616Val) c.1184T>G (n.1184T>G) c.1015T>G (p.Phe339Val) c.847T>G (p.Phe283Val) c.1903T>G (p.Phe635Val) | |
| 17 | g.42543853del | CA2637971661 | NAGLU | c.1847del (p.Phe616SerfsTer7) c.1185del (n.1185del) c.1016del (p.Phe339SerfsTer7) c.848del (p.Phe283SerfsTer7) c.1904del (p.Phe635SerfsTer7) | gnomAD v4 |
| 17 | g.42543853T>A | CA399605105 | NAGLU | c.1847T>A (p.Phe616Tyr) c.1185T>A (n.1185T>A) c.1016T>A (p.Phe339Tyr) c.848T>A (p.Phe283Tyr) c.1904T>A (p.Phe635Tyr) | |
| 17 | g.42543853T>C | CA399605107 | NAGLU | c.1847T>C (p.Phe616Ser) c.1185T>C (n.1185T>C) c.1016T>C (p.Phe339Ser) c.848T>C (p.Phe283Ser) c.1904T>C (p.Phe635Ser) | |
| 17 | g.42543853T>G | CA399605110 | NAGLU | c.1847T>G (p.Phe616Cys) c.1185T>G (n.1185T>G) c.1016T>G (p.Phe339Cys) c.848T>G (p.Phe283Cys) c.1904T>G (p.Phe635Cys) | |
| 17 | g.42543854C>A | CA399605112 | NAGLU | c.1848C>A (p.Phe616Leu) c.1186C>A (n.1186C>A) c.1017C>A (p.Phe339Leu) c.849C>A (p.Phe283Leu) c.1905C>A (p.Phe635Leu) | gnomAD v4 |
| 17 | g.42543854C>G | CA399605115 | NAGLU | c.1848C>G (p.Phe616Leu) c.1186C>G (n.1186C>G) c.1017C>G (p.Phe339Leu) c.849C>G (p.Phe283Leu) c.1905C>G (p.Phe635Leu) | |
| 17 | g.42543854C>T | CA500217932 | NAGLU | c.1848C>T (p.Phe616=) c.1186C>T (n.1186C>T) c.1017C>T (p.Phe339=) c.849C>T (p.Phe283=) c.1905C>T (p.Phe635=) | COSMIC |
| 17 | g.42543855T>A | CA399605119 | NAGLU | c.1849T>A (p.Leu617Met) c.1187T>A (n.1187T>A) c.1018T>A (p.Leu340Met) c.850T>A (p.Leu284Met) c.1906T>A (p.Leu636Met) | |
| 17 | g.42543855T>C | CA500217945 | NAGLU | c.1849T>C (p.Leu617=) c.1187T>C (n.1187T>C) c.1018T>C (p.Leu340=) c.850T>C (p.Leu284=) c.1906T>C (p.Leu636=) | |
| 17 | g.42543855T>G | CA399605120 | NAGLU | c.1849T>G (p.Leu617Val) c.1187T>G (n.1187T>G) c.1018T>G (p.Leu340Val) c.850T>G (p.Leu284Val) c.1906T>G (p.Leu636Val) | |
| 17 | g.42543856T>A | CA399605123 | NAGLU | c.1850T>A (p.Leu617Ter) c.1188T>A (n.1188T>A) c.1019T>A (p.Leu340Ter) c.851T>A (p.Leu284Ter) c.1907T>A (p.Leu636Ter) | |
| 17 | g.42543856T>C | CA399605124 | NAGLU | c.1850T>C (p.Leu617Ser) c.1188T>C (n.1188T>C) c.1019T>C (p.Leu340Ser) c.851T>C (p.Leu284Ser) c.1907T>C (p.Leu636Ser) | |
| 17 | g.42543856T>G | CA399605127 | NAGLU | c.1850T>G (p.Leu617Trp) c.1188T>G (n.1188T>G) c.1019T>G (p.Leu340Trp) c.851T>G (p.Leu284Trp) c.1907T>G (p.Leu636Trp) | |
| 17 | g.42543857G>A | CA500217957 | NAGLU | c.1851G>A (p.Leu617=) c.1189G>A (n.1189G>A) c.1020G>A (p.Leu340=) c.852G>A (p.Leu284=) c.1908G>A (p.Leu636=) | gnomAD v4 |
| 17 | g.42543857G>C | CA399605132 | NAGLU | c.1851G>C (p.Leu617Phe) c.1189G>C (n.1189G>C) c.1020G>C (p.Leu340Phe) c.852G>C (p.Leu284Phe) c.1908G>C (p.Leu636Phe) | |
| 17 | g.42543857G= | CA2260530488 | NAGLU | c.1851G= (p.Leu617=) c.1189G= (n.1189G=) c.1020G= (p.Leu340=) c.852G= (p.Leu284=) c.1908G= (p.Leu636=) | |
| 17 | g.42543857G>T | CA399605130 | NAGLU | c.1851G>T (p.Leu617Phe) c.1189G>T (n.1189G>T) c.1020G>T (p.Leu340Phe) c.852G>T (p.Leu284Phe) c.1908G>T (p.Leu636Phe) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543858C>A | CA399605136 | NAGLU | c.1852C>A (p.Leu618Met) c.1190C>A (n.1190C>A) c.1021C>A (p.Leu341Met) c.853C>A (p.Leu285Met) c.1909C>A (p.Leu637Met) | gnomAD v4 |
| 17 | g.42543858C>G | CA399605138 | NAGLU | c.1852C>G (p.Leu618Val) c.1190C>G (n.1190C>G) c.1021C>G (p.Leu341Val) c.853C>G (p.Leu285Val) c.1909C>G (p.Leu637Val) | |
| 17 | g.42543858C>T | CA500217962 | NAGLU | c.1852C>T (p.Leu618=) c.1190C>T (n.1190C>T) c.1021C>T (p.Leu341=) c.853C>T (p.Leu285=) c.1909C>T (p.Leu637=) | ClinVar gnomAD v4 |
| 17 | g.42543859T>A | CA399605142 | NAGLU | c.1853T>A (p.Leu618Gln) c.1191T>A (n.1191T>A) c.1022T>A (p.Leu341Gln) c.854T>A (p.Leu285Gln) c.1910T>A (p.Leu637Gln) | |
| 17 | g.42543859T>C | CA399605145 | NAGLU | c.1853T>C (p.Leu618Pro) c.1191T>C (n.1191T>C) c.1022T>C (p.Leu341Pro) c.854T>C (p.Leu285Pro) c.1910T>C (p.Leu637Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543859T>G | CA399605148 | NAGLU | c.1853T>G (p.Leu618Arg) c.1191T>G (n.1191T>G) c.1022T>G (p.Leu341Arg) c.854T>G (p.Leu285Arg) c.1910T>G (p.Leu637Arg) | |
| 17 | g.42543860G>A | CA500217990 | NAGLU | c.1854G>A (p.Leu618=) c.1192G>A (n.1192G>A) c.1023G>A (p.Leu341=) c.855G>A (p.Leu285=) c.1911G>A (p.Leu637=) | |
| 17 | g.42543860G>C | CA500217995 | NAGLU | c.1854G>C (p.Leu618=) c.1192G>C (n.1192G>C) c.1023G>C (p.Leu341=) c.855G>C (p.Leu285=) c.1911G>C (p.Leu637=) | |
| 17 | g.42543860G>T | CA500217992 | NAGLU | c.1854G>T (p.Leu618=) c.1192G>T (n.1192G>T) c.1023G>T (p.Leu341=) c.855G>T (p.Leu285=) c.1911G>T (p.Leu637=) | gnomAD v4 |
| 17 | g.42543861G>A | CA399605151 | NAGLU | c.1855G>A (p.Gly619Ser) c.1193G>A (n.1193G>A) c.1024G>A (p.Gly342Ser) c.856G>A (p.Gly286Ser) c.1912G>A (p.Gly638Ser) | gnomAD v4 |
| 17 | g.42543861G>C | CA399605156 | NAGLU | c.1855G>C (p.Gly619Arg) c.1193G>C (n.1193G>C) c.1024G>C (p.Gly342Arg) c.856G>C (p.Gly286Arg) c.1912G>C (p.Gly638Arg) | |
| 17 | g.42543861G>T | CA399605158 | NAGLU | c.1855G>T (p.Gly619Cys) c.1193G>T (n.1193G>T) c.1024G>T (p.Gly342Cys) c.856G>T (p.Gly286Cys) c.1912G>T (p.Gly638Cys) | |
| 17 | g.42543862G>A | CA399605160 | NAGLU | c.1856G>A (p.Gly619Asp) c.1194G>A (n.1194G>A) c.1025G>A (p.Gly342Asp) c.857G>A (p.Gly286Asp) c.1913G>A (p.Gly638Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.42543862G>C | CA399605162 | NAGLU | c.1856G>C (p.Gly619Ala) c.1194G>C (n.1194G>C) c.1025G>C (p.Gly342Ala) c.857G>C (p.Gly286Ala) c.1913G>C (p.Gly638Ala) | |
| 17 | g.42543862G= | CA2260530489 | NAGLU | c.1856G= (p.Gly619=) c.1194G= (n.1194G=) c.1025G= (p.Gly342=) c.857G= (p.Gly286=) c.1913G= (p.Gly638=) | |
| 17 | g.42543862G>T | CA399605165 | NAGLU | c.1856G>T (p.Gly619Val) c.1194G>T (n.1194G>T) c.1025G>T (p.Gly342Val) c.857G>T (p.Gly286Val) c.1913G>T (p.Gly638Val) | |
| 17 | g.42543863C>A | CA500218016 | NAGLU | c.1857C>A (p.Gly619=) c.1195C>A (n.1195C>A) c.1026C>A (p.Gly342=) c.858C>A (p.Gly286=) c.1914C>A (p.Gly638=) | gnomAD v4 |
| 17 | g.42543863C>G | CA500218008 | NAGLU | c.1857C>G (p.Gly619=) c.1195C>G (n.1195C>G) c.1026C>G (p.Gly342=) c.858C>G (p.Gly286=) c.1914C>G (p.Gly638=) |