| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543839T>A | CA500217803 | NAGLU | c.1833T>A (p.Ala611=) c.1171T>A (n.1171T>A) c.1002T>A (p.Ala334=) c.834T>A (p.Ala278=) c.1890T>A (p.Ala630=) | |
| 17 | g.42543839T>C | CA500217799 | NAGLU | c.1833T>C (p.Ala611=) c.1171T>C (n.1171T>C) c.1002T>C (p.Ala334=) c.834T>C (p.Ala278=) c.1890T>C (p.Ala630=) | |
| 17 | g.42543839T>G | CA500217796 | NAGLU | c.1833T>G (p.Ala611=) c.1171T>G (n.1171T>G) c.1002T>G (p.Ala334=) c.834T>G (p.Ala278=) c.1890T>G (p.Ala630=) | ClinVar |
| 17 | g.42543840A= | CA2260530481 | NAGLU | c.1834A= (p.Ser612=) c.1172A= (n.1172A=) c.1003A= (p.Ser335=) c.835A= (p.Ser279=) c.1891A= (p.Ser631=) | |
| 17 | g.42543840A>C | CA399605036 | NAGLU | c.1834A>C (p.Ser612Arg) c.1172A>C (n.1172A>C) c.1003A>C (p.Ser335Arg) c.835A>C (p.Ser279Arg) c.1891A>C (p.Ser631Arg) | |
| 17 | g.42543840A>G | CA8577104 | NAGLU | c.1834A>G (p.Ser612Gly) c.1172A>G (n.1172A>G) c.1003A>G (p.Ser335Gly) c.835A>G (p.Ser279Gly) c.1891A>G (p.Ser631Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543840A>T | CA399605038 | NAGLU | c.1834A>T (p.Ser612Cys) c.1172A>T (n.1172A>T) c.1003A>T (p.Ser335Cys) c.835A>T (p.Ser279Cys) c.1891A>T (p.Ser631Cys) | |
| 17 | g.42543841G>A | CA399605041 | NAGLU | c.1835G>A (p.Ser612Asn) c.1173G>A (n.1173G>A) c.1004G>A (p.Ser335Asn) c.836G>A (p.Ser279Asn) c.1892G>A (p.Ser631Asn) | |
| 17 | g.42543841G>C | CA399605042 | NAGLU | c.1835G>C (p.Ser612Thr) c.1173G>C (n.1173G>C) c.1004G>C (p.Ser335Thr) c.836G>C (p.Ser279Thr) c.1892G>C (p.Ser631Thr) | |
| 17 | g.42543841G>T | CA399605044 | NAGLU | c.1835G>T (p.Ser612Ile) c.1173G>T (n.1173G>T) c.1004G>T (p.Ser335Ile) c.836G>T (p.Ser279Ile) c.1892G>T (p.Ser631Ile) | |
| 17 | g.42543842T>A | CA399605046 | NAGLU | c.1836T>A (p.Ser612Arg) c.1174T>A (n.1174T>A) c.1005T>A (p.Ser335Arg) c.837T>A (p.Ser279Arg) c.1893T>A (p.Ser631Arg) | |
| 17 | g.42543842T>C | CA500217833 | NAGLU | c.1836T>C (p.Ser612=) c.1174T>C (n.1174T>C) c.1005T>C (p.Ser335=) c.837T>C (p.Ser279=) c.1893T>C (p.Ser631=) | |
| 17 | g.42543842T>G | CA399605048 | NAGLU | c.1836T>G (p.Ser612Arg) c.1174T>G (n.1174T>G) c.1005T>G (p.Ser335Arg) c.837T>G (p.Ser279Arg) c.1893T>G (p.Ser631Arg) | |
| 17 | g.42543843G>A | CA399605049 | NAGLU | c.1837G>A (p.Asp613Asn) c.1175G>A (n.1175G>A) c.1006G>A (p.Asp336Asn) c.838G>A (p.Asp280Asn) c.1894G>A (p.Asp632Asn) | |
| 17 | g.42543843G>C | CA399605050 | NAGLU | c.1837G>C (p.Asp613His) c.1175G>C (n.1175G>C) c.1006G>C (p.Asp336His) c.838G>C (p.Asp280His) c.1894G>C (p.Asp632His) | |
| 17 | g.42543843G>T | CA399605052 | NAGLU | c.1837G>T (p.Asp613Tyr) c.1175G>T (n.1175G>T) c.1006G>T (p.Asp336Tyr) c.838G>T (p.Asp280Tyr) c.1894G>T (p.Asp632Tyr) | gnomAD v4 |
| 17 | g.42543844A= | CA2260530482 | NAGLU | c.1838A= (p.Asp613=) c.1176A= (n.1176A=) c.1007A= (p.Asp336=) c.839A= (p.Asp280=) c.1895A= (p.Asp632=) | |
| 17 | g.42543844A>C | CA399605054 | NAGLU | c.1838A>C (p.Asp613Ala) c.1176A>C (n.1176A>C) c.1007A>C (p.Asp336Ala) c.839A>C (p.Asp280Ala) c.1895A>C (p.Asp632Ala) | dbSNP |
| 17 | g.42543844A>G | CA399605056 | NAGLU | c.1838A>G (p.Asp613Gly) c.1176A>G (n.1176A>G) c.1007A>G (p.Asp336Gly) c.839A>G (p.Asp280Gly) c.1895A>G (p.Asp632Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.42543844A>T | CA399605058 | NAGLU | c.1838A>T (p.Asp613Val) c.1176A>T (n.1176A>T) c.1007A>T (p.Asp336Val) c.839A>T (p.Asp280Val) c.1895A>T (p.Asp632Val) | |
| 17 | g.42543845C>A | CA399605063 | NAGLU | c.1839C>A (p.Asp613Glu) c.1177C>A (n.1177C>A) c.1008C>A (p.Asp336Glu) c.840C>A (p.Asp280Glu) c.1896C>A (p.Asp632Glu) | |
| 17 | g.42543845C= | CA2260530483 | NAGLU | c.1839C= (p.Asp613=) c.1177C= (n.1177C=) c.1008C= (p.Asp336=) c.840C= (p.Asp280=) c.1896C= (p.Asp632=) | |
| 17 | g.42543845C>G | CA399605060 | NAGLU | c.1839C>G (p.Asp613Glu) c.1177C>G (n.1177C>G) c.1008C>G (p.Asp336Glu) c.840C>G (p.Asp280Glu) c.1896C>G (p.Asp632Glu) | |
| 17 | g.42543845C>T | CA8577105 | NAGLU | c.1839C>T (p.Asp613=) c.1177C>T (n.1177C>T) c.1008C>T (p.Asp336=) c.840C>T (p.Asp280=) c.1896C>T (p.Asp632=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.42543846A>C | CA399605065 | NAGLU | c.1840A>C (p.Ser614Arg) c.1178A>C (n.1178A>C) c.1009A>C (p.Ser337Arg) c.841A>C (p.Ser281Arg) c.1897A>C (p.Ser633Arg) | |
| 17 | g.42543846A>G | CA399605067 | NAGLU | c.1840A>G (p.Ser614Gly) c.1178A>G (n.1178A>G) c.1009A>G (p.Ser337Gly) c.841A>G (p.Ser281Gly) c.1897A>G (p.Ser633Gly) | |
| 17 | g.42543846A>T | CA399605069 | NAGLU | c.1840A>T (p.Ser614Cys) c.1178A>T (n.1178A>T) c.1009A>T (p.Ser337Cys) c.841A>T (p.Ser281Cys) c.1897A>T (p.Ser633Cys) | |
| 17 | g.42543847G>A | CA399605071 | NAGLU | c.1841G>A (p.Ser614Asn) c.1179G>A (n.1179G>A) c.1010G>A (p.Ser337Asn) c.842G>A (p.Ser281Asn) c.1898G>A (p.Ser633Asn) | |
| 17 | g.42543847G>C | CA399605072 | NAGLU | c.1841G>C (p.Ser614Thr) c.1179G>C (n.1179G>C) c.1010G>C (p.Ser337Thr) c.842G>C (p.Ser281Thr) c.1898G>C (p.Ser633Thr) | |
| 17 | g.42543847G>T | CA399605075 | NAGLU | c.1841G>T (p.Ser614Ile) c.1179G>T (n.1179G>T) c.1010G>T (p.Ser337Ile) c.842G>T (p.Ser281Ile) c.1898G>T (p.Ser633Ile) | |
| 17 | g.42543848C>A | CA399605078 | NAGLU | c.1842C>A (p.Ser614Arg) c.1180C>A (n.1180C>A) c.1011C>A (p.Ser337Arg) c.843C>A (p.Ser281Arg) c.1899C>A (p.Ser633Arg) | |
| 17 | g.42543848C= | CA2260530484 | NAGLU | c.1842C= (p.Ser614=) c.1180C= (n.1180C=) c.1011C= (p.Ser337=) c.843C= (p.Ser281=) c.1899C= (p.Ser633=) | |
| 17 | g.42543848C>G | CA399605081 | NAGLU | c.1842C>G (p.Ser614Arg) c.1180C>G (n.1180C>G) c.1011C>G (p.Ser337Arg) c.843C>G (p.Ser281Arg) c.1899C>G (p.Ser633Arg) | |
| 17 | g.42543848C>T | CA500217883 | NAGLU | c.1842C>T (p.Ser614=) c.1180C>T (n.1180C>T) c.1011C>T (p.Ser337=) c.843C>T (p.Ser281=) c.1899C>T (p.Ser633=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 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 |