| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.42543834C>A | CA399605017 | NAGLU | c.1828C>A (p.Leu610Met) c.1166C>A (n.1166C>A) c.997C>A (p.Leu333Met) c.829C>A (p.Leu277Met) c.1885C>A (p.Leu629Met) | ClinVar dbSNP gnomAD v2 |
| 17 | g.42543834C= | CA2260530479 | NAGLU | c.1828C= (p.Leu610=) c.1166C= (n.1166C=) c.997C= (p.Leu333=) c.829C= (p.Leu277=) c.1885C= (p.Leu629=) | |
| 17 | g.42543834C>G | CA399605019 | NAGLU | c.1828C>G (p.Leu610Val) c.1166C>G (n.1166C>G) c.997C>G (p.Leu333Val) c.829C>G (p.Leu277Val) c.1885C>G (p.Leu629Val) | |
| 17 | g.42543834C>T | CA500217757 | NAGLU | c.1828C>T (p.Leu610=) c.1166C>T (n.1166C>T) c.997C>T (p.Leu333=) c.829C>T (p.Leu277=) c.1885C>T (p.Leu629=) | ClinVar dbSNP gnomAD v4 |
| 17 | g.42543835T>A | CA399605021 | NAGLU | c.1829T>A (p.Leu610Gln) c.1167T>A (n.1167T>A) c.998T>A (p.Leu333Gln) c.830T>A (p.Leu277Gln) c.1886T>A (p.Leu629Gln) | |
| 17 | g.42543835T>C | CA399605023 | NAGLU | c.1829T>C (p.Leu610Pro) c.1167T>C (n.1167T>C) c.998T>C (p.Leu333Pro) c.830T>C (p.Leu277Pro) c.1886T>C (p.Leu629Pro) | |
| 17 | g.42543835T>G | CA399605025 | NAGLU | c.1829T>G (p.Leu610Arg) c.1167T>G (n.1167T>G) c.998T>G (p.Leu333Arg) c.830T>G (p.Leu277Arg) c.1886T>G (p.Leu629Arg) | |
| 17 | g.42543836G>A | CA500217771 | NAGLU | c.1830G>A (p.Leu610=) c.1168G>A (n.1168G>A) c.999G>A (p.Leu333=) c.831G>A (p.Leu277=) c.1887G>A (p.Leu629=) | |
| 17 | g.42543836G>C | CA500217774 | NAGLU | c.1830G>C (p.Leu610=) c.1168G>C (n.1168G>C) c.999G>C (p.Leu333=) c.831G>C (p.Leu277=) c.1887G>C (p.Leu629=) | |
| 17 | g.42543836G>T | CA500217778 | NAGLU | c.1830G>T (p.Leu610=) c.1168G>T (n.1168G>T) c.999G>T (p.Leu333=) c.831G>T (p.Leu277=) c.1887G>T (p.Leu629=) | gnomAD v4 |
| 17 | g.42543837G>A | CA399605027 | NAGLU | c.1831G>A (p.Ala611Thr) c.1169G>A (n.1169G>A) c.1000G>A (p.Ala334Thr) c.832G>A (p.Ala278Thr) c.1888G>A (p.Ala630Thr) | dbSNP |
| 17 | g.42543837G>C | CA399605028 | NAGLU | c.1831G>C (p.Ala611Pro) c.1169G>C (n.1169G>C) c.1000G>C (p.Ala334Pro) c.832G>C (p.Ala278Pro) c.1888G>C (p.Ala630Pro) | |
| 17 | g.42543837G= | CA2260530480 | NAGLU | c.1831G= (p.Ala611=) c.1169G= (n.1169G=) c.1000G= (p.Ala334=) c.832G= (p.Ala278=) c.1888G= (p.Ala630=) | |
| 17 | g.42543837G>T | CA399605030 | NAGLU | c.1831G>T (p.Ala611Ser) c.1169G>T (n.1169G>T) c.1000G>T (p.Ala334Ser) c.832G>T (p.Ala278Ser) c.1888G>T (p.Ala630Ser) | |
| 17 | g.42543838C>A | CA399605034 | NAGLU | c.1832C>A (p.Ala611Asp) c.1170C>A (n.1170C>A) c.1001C>A (p.Ala334Asp) c.833C>A (p.Ala278Asp) c.1889C>A (p.Ala630Asp) | gnomAD v4 |
| 17 | g.42543838C>G | CA399605033 | NAGLU | c.1832C>G (p.Ala611Gly) c.1170C>G (n.1170C>G) c.1001C>G (p.Ala334Gly) c.833C>G (p.Ala278Gly) c.1889C>G (p.Ala630Gly) | |
| 17 | g.42543838C>T | CA399605032 | NAGLU | c.1832C>T (p.Ala611Val) c.1170C>T (n.1170C>T) c.1001C>T (p.Ala334Val) c.833C>T (p.Ala278Val) c.1889C>T (p.Ala630Val) | |
| 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) |