Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.42543809_42543826dup | CA626218629 | NAGLU | c.1803_1820dup (p.Leu606_Asp607insGluLeuLeuProAlaLeu) c.1141_1158dup (n.1141_1158dup) c.972_989dup (p.Leu329_Asp330insGluLeuLeuProAlaLeu) c.804_821dup (p.Leu273_Asp274insGluLeuLeuProAlaLeu) c.1860_1877dup (p.Leu625_Asp626insGluLeuLeuProAlaLeu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543821_42543827dup | CA2573153975 | NAGLU | c.1815_1821dup (p.Glu608ThrfsTer7) c.1153_1159dup (n.1153_1159dup) c.984_990dup (p.Glu331ThrfsTer7) c.816_822dup (p.Glu275ThrfsTer7) c.1872_1878dup (p.Glu627ThrfsTer7) | ClinVar dbSNP |
17 | g.42543825dup | CA2838326200 | NAGLU | c.1819dup (p.Asp607GlyfsTer6) c.1157dup (n.1157dup) c.988dup (p.Asp330GlyfsTer6) c.820dup (p.Asp274GlyfsTer6) c.1876dup (p.Asp626GlyfsTer6) | |
17 | g.42543825G>A | CA399604978 | NAGLU | c.1819G>A (p.Asp607Asn) c.1157G>A (n.1157G>A) c.988G>A (p.Asp330Asn) c.820G>A (p.Asp274Asn) c.1876G>A (p.Asp626Asn) | |
17 | g.42543825G>C | CA399604979 | NAGLU | c.1819G>C (p.Asp607His) c.1157G>C (n.1157G>C) c.988G>C (p.Asp330His) c.820G>C (p.Asp274His) c.1876G>C (p.Asp626His) | |
17 | g.42543825G>T | CA399604976 | NAGLU | c.1819G>T (p.Asp607Tyr) c.1157G>T (n.1157G>T) c.988G>T (p.Asp330Tyr) c.820G>T (p.Asp274Tyr) c.1876G>T (p.Asp626Tyr) | |
17 | g.42543826A>C | CA399604983 | NAGLU | c.1820A>C (p.Asp607Ala) c.1158A>C (n.1158A>C) c.989A>C (p.Asp330Ala) c.821A>C (p.Asp274Ala) c.1877A>C (p.Asp626Ala) | |
17 | g.42543826A>G | CA399604984 | NAGLU | c.1820A>G (p.Asp607Gly) c.1158A>G (n.1158A>G) c.989A>G (p.Asp330Gly) c.821A>G (p.Asp274Gly) c.1877A>G (p.Asp626Gly) | |
17 | g.42543826A>T | CA399604986 | NAGLU | c.1820A>T (p.Asp607Val) c.1158A>T (n.1158A>T) c.989A>T (p.Asp330Val) c.821A>T (p.Asp274Val) c.1877A>T (p.Asp626Val) | |
17 | g.42543827C>A | CA399604989 | NAGLU | c.1821C>A (p.Asp607Glu) c.1159C>A (n.1159C>A) c.990C>A (p.Asp330Glu) c.822C>A (p.Asp274Glu) c.1878C>A (p.Asp626Glu) | |
17 | g.42543827C= | CA2260530475 | NAGLU | c.1821C= (p.Asp607=) c.1159C= (n.1159C=) c.990C= (p.Asp330=) c.822C= (p.Asp274=) c.1878C= (p.Asp626=) | |
17 | g.42543827C>G | CA399604990 | NAGLU | c.1821C>G (p.Asp607Glu) c.1159C>G (n.1159C>G) c.990C>G (p.Asp330Glu) c.822C>G (p.Asp274Glu) c.1878C>G (p.Asp626Glu) | gnomAD v4 |
17 | g.42543827C>T | CA8577102 | NAGLU | c.1821C>T (p.Asp607=) c.1159C>T (n.1159C>T) c.990C>T (p.Asp330=) c.822C>T (p.Asp274=) c.1878C>T (p.Asp626=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.42543828G>A | CA8577103 | NAGLU | c.1822G>A (p.Glu608Lys) c.1160G>A (n.1160G>A) c.991G>A (p.Glu331Lys) c.823G>A (p.Glu275Lys) c.1879G>A (p.Glu627Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543828G>C | CA399604993 | NAGLU | c.1822G>C (p.Glu608Gln) c.1160G>C (n.1160G>C) c.991G>C (p.Glu331Gln) c.823G>C (p.Glu275Gln) c.1879G>C (p.Glu627Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543828G= | CA2260530476 | NAGLU | c.1822G= (p.Glu608=) c.1160G= (n.1160G=) c.991G= (p.Glu331=) c.823G= (p.Glu275=) c.1879G= (p.Glu627=) | |
17 | g.42543828G>T | CA399604995 | NAGLU | c.1822G>T (p.Glu608Ter) c.1160G>T (n.1160G>T) c.991G>T (p.Glu331Ter) c.823G>T (p.Glu275Ter) c.1879G>T (p.Glu627Ter) | dbSNP gnomAD v4 |
17 | g.42543829A>C | CA399604998 | NAGLU | c.1823A>C (p.Glu608Ala) c.1161A>C (n.1161A>C) c.992A>C (p.Glu331Ala) c.824A>C (p.Glu275Ala) c.1880A>C (p.Glu627Ala) | |
17 | g.42543829A>G | CA399604999 | NAGLU | c.1823A>G (p.Glu608Gly) c.1161A>G (n.1161A>G) c.992A>G (p.Glu331Gly) c.824A>G (p.Glu275Gly) c.1880A>G (p.Glu627Gly) | |
17 | g.42543829A>T | CA399605001 | NAGLU | c.1823A>T (p.Glu608Val) c.1161A>T (n.1161A>T) c.992A>T (p.Glu331Val) c.824A>T (p.Glu275Val) c.1880A>T (p.Glu627Val) | |
17 | g.42543830G>A | CA500217716 | NAGLU | c.1824G>A (p.Glu608=) c.1162G>A (n.1162G>A) c.993G>A (p.Glu331=) c.825G>A (p.Glu275=) c.1881G>A (p.Glu627=) | ClinVar |
17 | g.42543830G>C | CA399605003 | NAGLU | c.1824G>C (p.Glu608Asp) c.1162G>C (n.1162G>C) c.993G>C (p.Glu331Asp) c.825G>C (p.Glu275Asp) c.1881G>C (p.Glu627Asp) | |
17 | g.42543830G>T | CA399605005 | NAGLU | c.1824G>T (p.Glu608Asp) c.1162G>T (n.1162G>T) c.993G>T (p.Glu331Asp) c.825G>T (p.Glu275Asp) c.1881G>T (p.Glu627Asp) | |
17 | g.42543831G>A | CA399605007 | NAGLU | c.1825G>A (p.Val609Met) c.1163G>A (n.1163G>A) c.994G>A (p.Val332Met) c.826G>A (p.Val276Met) c.1882G>A (p.Val628Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543831G>C | CA399605010 | NAGLU | c.1825G>C (p.Val609Leu) c.1163G>C (n.1163G>C) c.994G>C (p.Val332Leu) c.826G>C (p.Val276Leu) c.1882G>C (p.Val628Leu) | |
17 | g.42543831G= | CA2260530477 | NAGLU | c.1825G= (p.Val609=) c.1163G= (n.1163G=) c.994G= (p.Val332=) c.826G= (p.Val276=) c.1882G= (p.Val628=) | |
17 | g.42543831G>T | CA399605009 | NAGLU | c.1825G>T (p.Val609Leu) c.1163G>T (n.1163G>T) c.994G>T (p.Val332Leu) c.826G>T (p.Val276Leu) c.1882G>T (p.Val628Leu) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543832T>A | CA399605011 | NAGLU | c.1826T>A (p.Val609Glu) c.1164T>A (n.1164T>A) c.995T>A (p.Val332Glu) c.827T>A (p.Val276Glu) c.1883T>A (p.Val628Glu) | |
17 | g.42543832T>C | CA399605013 | NAGLU | c.1826T>C (p.Val609Ala) c.1164T>C (n.1164T>C) c.995T>C (p.Val332Ala) c.827T>C (p.Val276Ala) c.1883T>C (p.Val628Ala) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543832T>G | CA399605015 | NAGLU | c.1826T>G (p.Val609Gly) c.1164T>G (n.1164T>G) c.995T>G (p.Val332Gly) c.827T>G (p.Val276Gly) c.1883T>G (p.Val628Gly) | gnomAD v4 |
17 | g.42543832T= | CA2260530478 | NAGLU | c.1826T= (p.Val609=) c.1164T= (n.1164T=) c.995T= (p.Val332=) c.827T= (p.Val276=) c.1883T= (p.Val628=) | |
17 | g.42543833G>A | CA500217751 | NAGLU | c.1827G>A (p.Val609=) c.1165G>A (n.1165G>A) c.996G>A (p.Val332=) c.828G>A (p.Val276=) c.1884G>A (p.Val628=) | gnomAD v4 |
17 | g.42543833G>C | CA500217742 | NAGLU | c.1827G>C (p.Val609=) c.1165G>C (n.1165G>C) c.996G>C (p.Val332=) c.828G>C (p.Val276=) c.1884G>C (p.Val628=) | |
17 | g.42543833G>T | CA500217749 | NAGLU | c.1827G>T (p.Val609=) c.1165G>T (n.1165G>T) c.996G>T (p.Val332=) c.828G>T (p.Val276=) c.1884G>T (p.Val628=) | |
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.42543843dup | CA2843206025 | NAGLU | c.1837dup (p.Asp613GlyfsTer20) c.1175dup (n.1175dup) c.1006dup (p.Asp336GlyfsTer20) c.838dup (p.Asp280GlyfsTer20) c.1894dup (p.Asp632GlyfsTer20) | |
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.42543845del | CA2838857987 | NAGLU | c.1839del (p.Asp613GlufsTer10) c.1177del (n.1177del) c.1008del (p.Asp336GlufsTer10) c.840del (p.Asp280GlufsTer10) c.1896del (p.Asp632GlufsTer10) | |
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.42543850dup | CA2843206026 | NAGLU | c.1844dup (p.Phe616LeufsTer17) c.1182dup (n.1182dup) c.1013dup (p.Phe339LeufsTer17) c.845dup (p.Phe283LeufsTer17) c.1901dup (p.Phe635LeufsTer17) | |
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=) | |
17 | g.42543863C>T | CA500218013 | NAGLU | c.1857C>T (p.Gly619=) c.1195C>T (n.1195C>T) c.1026C>T (p.Gly342=) c.858C>T (p.Gly286=) c.1914C>T (p.Gly638=) | ClinVar gnomAD v4 |
17 | g.42543864A= | CA2260530490 | NAGLU | c.1858A= (p.Ser620=) c.1196A= (n.1196A=) c.1027A= (p.Ser343=) c.859A= (p.Ser287=) c.1915A= (p.Ser639=) | |
17 | g.42543864A>C | CA399605169 | NAGLU | c.1858A>C (p.Ser620Arg) c.1196A>C (n.1196A>C) c.1027A>C (p.Ser343Arg) c.859A>C (p.Ser287Arg) c.1915A>C (p.Ser639Arg) | |
17 | g.42543864A>G | CA8577107 | NAGLU | c.1858A>G (p.Ser620Gly) c.1196A>G (n.1196A>G) c.1027A>G (p.Ser343Gly) c.859A>G (p.Ser287Gly) c.1915A>G (p.Ser639Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543864A>T | CA399605175 | NAGLU | c.1858A>T (p.Ser620Cys) c.1196A>T (n.1196A>T) c.1027A>T (p.Ser343Cys) c.859A>T (p.Ser287Cys) c.1915A>T (p.Ser639Cys) | |
17 | g.42543865G>A | CA399605185 | NAGLU | c.1859G>A (p.Ser620Asn) c.1197G>A (n.1197G>A) c.1028G>A (p.Ser343Asn) c.860G>A (p.Ser287Asn) c.1916G>A (p.Ser639Asn) | |
17 | g.42543865G>C | CA399605182 | NAGLU | c.1859G>C (p.Ser620Thr) c.1197G>C (n.1197G>C) c.1028G>C (p.Ser343Thr) c.860G>C (p.Ser287Thr) c.1916G>C (p.Ser639Thr) | |
17 | g.42543865G>T | CA399605179 | NAGLU | c.1859G>T (p.Ser620Ile) c.1197G>T (n.1197G>T) c.1028G>T (p.Ser343Ile) c.860G>T (p.Ser287Ile) c.1916G>T (p.Ser639Ile) | gnomAD v4 |
17 | g.42543866C>A | CA399605189 | NAGLU | c.1860C>A (p.Ser620Arg) c.1198C>A (n.1198C>A) c.1029C>A (p.Ser343Arg) c.861C>A (p.Ser287Arg) c.1917C>A (p.Ser639Arg) | |
17 | g.42543866C= | CA2260530491 | NAGLU | c.1860C= (p.Ser620=) c.1198C= (n.1198C=) c.1029C= (p.Ser343=) c.861C= (p.Ser287=) c.1917C= (p.Ser639=) | |
17 | g.42543866C>G | CA399605188 | NAGLU | c.1860C>G (p.Ser620Arg) c.1198C>G (n.1198C>G) c.1029C>G (p.Ser343Arg) c.861C>G (p.Ser287Arg) c.1917C>G (p.Ser639Arg) | gnomAD v4 |
17 | g.42543866C>T | CA8577108 | NAGLU | c.1860C>T (p.Ser620=) c.1198C>T (n.1198C>T) c.1029C>T (p.Ser343=) c.861C>T (p.Ser287=) c.1917C>T (p.Ser639=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543867T>A | CA399605199 | NAGLU | c.1861T>A (p.Trp621Arg) c.1199T>A (n.1199T>A) c.1030T>A (p.Trp344Arg) c.862T>A (p.Trp288Arg) c.1918T>A (p.Trp640Arg) | |
17 | g.42543867T>C | CA399605202 | NAGLU | c.1861T>C (p.Trp621Arg) c.1199T>C (n.1199T>C) c.1030T>C (p.Trp344Arg) c.862T>C (p.Trp288Arg) c.1918T>C (p.Trp640Arg) | |
17 | g.42543867T>G | CA399605204 | NAGLU | c.1861T>G (p.Trp621Gly) c.1199T>G (n.1199T>G) c.1030T>G (p.Trp344Gly) c.862T>G (p.Trp288Gly) c.1918T>G (p.Trp640Gly) | |
17 | g.42543868G>A | CA399605208 | NAGLU | c.1862G>A (p.Trp621Ter) c.1200G>A (n.1200G>A) c.1031G>A (p.Trp344Ter) c.863G>A (p.Trp288Ter) c.1919G>A (p.Trp640Ter) | gnomAD v4 |
17 | g.42543868G>C | CA399605210 | NAGLU | c.1862G>C (p.Trp621Ser) c.1200G>C (n.1200G>C) c.1031G>C (p.Trp344Ser) c.863G>C (p.Trp288Ser) c.1919G>C (p.Trp640Ser) | |
17 | g.42543868G>T | CA399605213 | NAGLU | c.1862G>T (p.Trp621Leu) c.1200G>T (n.1200G>T) c.1031G>T (p.Trp344Leu) c.863G>T (p.Trp288Leu) c.1919G>T (p.Trp640Leu) | |
17 | g.42543869G>A | CA399605222 | NAGLU | c.1863G>A (p.Trp621Ter) c.1201G>A (n.1201G>A) c.1032G>A (p.Trp344Ter) c.864G>A (p.Trp288Ter) c.1920G>A (p.Trp640Ter) | ClinVar dbSNP |
17 | g.42543869G>C | CA399605218 | NAGLU | c.1863G>C (p.Trp621Cys) c.1201G>C (n.1201G>C) c.1032G>C (p.Trp344Cys) c.864G>C (p.Trp288Cys) c.1920G>C (p.Trp640Cys) | |
17 | g.42543869G= | CA2260530492 | NAGLU | c.1863G= (p.Trp621=) c.1201G= (n.1201G=) c.1032G= (p.Trp344=) c.864G= (p.Trp288=) c.1920G= (p.Trp640=) | |
17 | g.42543869G>T | CA399605220 | NAGLU | c.1863G>T (p.Trp621Cys) c.1201G>T (n.1201G>T) c.1032G>T (p.Trp344Cys) c.864G>T (p.Trp288Cys) c.1920G>T (p.Trp640Cys) | gnomAD v4 |
17 | g.42543870C>A | CA399605226 | NAGLU | c.1864C>A (p.Leu622Ile) c.1202C>A (n.1202C>A) c.1033C>A (p.Leu345Ile) c.865C>A (p.Leu289Ile) c.1921C>A (p.Leu641Ile) | gnomAD v4 |
17 | g.42543870C>G | CA399605227 | NAGLU | c.1864C>G (p.Leu622Val) c.1202C>G (n.1202C>G) c.1033C>G (p.Leu345Val) c.865C>G (p.Leu289Val) c.1921C>G (p.Leu641Val) | ClinVar gnomAD v4 COSMIC |
17 | g.42543870C>T | CA500218109 | NAGLU | c.1864C>T (p.Leu622=) c.1202C>T (n.1202C>T) c.1033C>T (p.Leu345=) c.865C>T (p.Leu289=) c.1921C>T (p.Leu641=) | |
17 | g.42543871T>A | CA399605231 | NAGLU | c.1865T>A (p.Leu622Gln) c.1203T>A (n.1203T>A) c.1034T>A (p.Leu345Gln) c.866T>A (p.Leu289Gln) c.1922T>A (p.Leu641Gln) | |
17 | g.42543871T>C | CA399605233 | NAGLU | c.1865T>C (p.Leu622Pro) c.1203T>C (n.1203T>C) c.1034T>C (p.Leu345Pro) c.866T>C (p.Leu289Pro) c.1922T>C (p.Leu641Pro) | gnomAD v4 |
17 | g.42543871T>G | CA399605235 | NAGLU | c.1865T>G (p.Leu622Arg) c.1203T>G (n.1203T>G) c.1034T>G (p.Leu345Arg) c.866T>G (p.Leu289Arg) c.1922T>G (p.Leu641Arg) | |
17 | g.42543872A>C | CA500218142 | NAGLU | c.1866A>C (p.Leu622=) c.1204A>C (n.1204A>C) c.1035A>C (p.Leu345=) c.867A>C (p.Leu289=) c.1923A>C (p.Leu641=) | |
17 | g.42543872A>G | CA500218147 | NAGLU | c.1866A>G (p.Leu622=) c.1204A>G (n.1204A>G) c.1035A>G (p.Leu345=) c.867A>G (p.Leu289=) c.1923A>G (p.Leu641=) | gnomAD v4 |
17 | g.42543872A>T | CA500218145 | NAGLU | c.1866A>T (p.Leu622=) c.1204A>T (n.1204A>T) c.1035A>T (p.Leu345=) c.867A>T (p.Leu289=) c.1923A>T (p.Leu641=) | |
17 | g.42543874_42543875dup | CA645588249 | NAGLU | c.1868_1869dup (p.Gln624SerfsTer24) c.1206_1207dup (n.1206_1207dup) c.1037_1038dup (p.Gln347SerfsTer24) c.869_870dup (p.Gln291SerfsTer24) c.1925_1926dup (p.Gln643SerfsTer24) | COSMIC |
17 | g.42543873G>A | CA399605240 | NAGLU | c.1867G>A (p.Glu623Lys) c.1205G>A (n.1205G>A) c.1036G>A (p.Glu346Lys) c.868G>A (p.Glu290Lys) c.1924G>A (p.Glu642Lys) | |
17 | g.42543873G>C | CA399605247 | NAGLU | c.1867G>C (p.Glu623Gln) c.1205G>C (n.1205G>C) c.1036G>C (p.Glu346Gln) c.868G>C (p.Glu290Gln) c.1924G>C (p.Glu642Gln) | |
17 | g.42543873G>T | CA399605244 | NAGLU | c.1867G>T (p.Glu623Ter) c.1205G>T (n.1205G>T) c.1036G>T (p.Glu346Ter) c.868G>T (p.Glu290Ter) c.1924G>T (p.Glu642Ter) | gnomAD v4 |
17 | g.42543874A>C | CA399605250 | NAGLU | c.1868A>C (p.Glu623Ala) c.1206A>C (n.1206A>C) c.1037A>C (p.Glu346Ala) c.869A>C (p.Glu290Ala) c.1925A>C (p.Glu642Ala) | |
17 | g.42543874A>G | CA399605252 | NAGLU | c.1868A>G (p.Glu623Gly) c.1206A>G (n.1206A>G) c.1037A>G (p.Glu346Gly) c.869A>G (p.Glu290Gly) c.1925A>G (p.Glu642Gly) | gnomAD v4 |
17 | g.42543874A>T | CA399605255 | NAGLU | c.1868A>T (p.Glu623Val) c.1206A>T (n.1206A>T) c.1037A>T (p.Glu346Val) c.869A>T (p.Glu290Val) c.1925A>T (p.Glu642Val) | |
17 | g.42543875G>A | CA500218184 | NAGLU | c.1869G>A (p.Glu623=) c.1207G>A (n.1207G>A) c.1038G>A (p.Glu346=) c.870G>A (p.Glu290=) c.1926G>A (p.Glu642=) | ClinVar gnomAD v4 |
17 | g.42543875G>C | CA399605258 | NAGLU | c.1869G>C (p.Glu623Asp) c.1207G>C (n.1207G>C) c.1038G>C (p.Glu346Asp) c.870G>C (p.Glu290Asp) c.1926G>C (p.Glu642Asp) | |
17 | g.42543875G>T | CA399605261 | NAGLU | c.1869G>T (p.Glu623Asp) c.1207G>T (n.1207G>T) c.1038G>T (p.Glu346Asp) c.870G>T (p.Glu290Asp) c.1926G>T (p.Glu642Asp) | gnomAD v4 |
17 | g.42543876C>A | CA399605266 | NAGLU | c.1870C>A (p.Gln624Lys) c.1208C>A (n.1208C>A) c.1039C>A (p.Gln347Lys) c.871C>A (p.Gln291Lys) c.1927C>A (p.Gln643Lys) | gnomAD v4 |
17 | g.42543876C>G | CA399605269 | NAGLU | c.1870C>G (p.Gln624Glu) c.1208C>G (n.1208C>G) c.1039C>G (p.Gln347Glu) c.871C>G (p.Gln291Glu) c.1927C>G (p.Gln643Glu) | |
17 | g.42543876C>T | CA399605272 | NAGLU | c.1870C>T (p.Gln624Ter) c.1208C>T (n.1208C>T) c.1039C>T (p.Gln347Ter) c.871C>T (p.Gln291Ter) c.1927C>T (p.Gln643Ter) | gnomAD v4 |
17 | g.42543877A>C | CA399605276 | NAGLU | c.1871A>C (p.Gln624Pro) c.1209A>C (n.1209A>C) c.1040A>C (p.Gln347Pro) c.872A>C (p.Gln291Pro) c.1928A>C (p.Gln643Pro) | |
17 | g.42543877A>G | CA399605279 | NAGLU | c.1871A>G (p.Gln624Arg) c.1209A>G (n.1209A>G) c.1040A>G (p.Gln347Arg) c.872A>G (p.Gln291Arg) c.1928A>G (p.Gln643Arg) | |
17 | g.42543877A>T | CA399605282 | NAGLU | c.1871A>T (p.Gln624Leu) c.1209A>T (n.1209A>T) c.1040A>T (p.Gln347Leu) c.872A>T (p.Gln291Leu) c.1928A>T (p.Gln643Leu) | gnomAD v4 |
17 | g.42543878G>A | CA500218233 | NAGLU | c.1872G>A (p.Gln624=) c.1210G>A (n.1210G>A) c.1041G>A (p.Gln347=) c.873G>A (p.Gln291=) c.1929G>A (p.Gln643=) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543878G>C | CA399605288 | NAGLU | c.1872G>C (p.Gln624His) c.1210G>C (n.1210G>C) c.1041G>C (p.Gln347His) c.873G>C (p.Gln291His) c.1929G>C (p.Gln643His) | |
17 | g.42543878G= | CA2260530493 | NAGLU | c.1872G= (p.Gln624=) c.1210G= (n.1210G=) c.1041G= (p.Gln347=) c.873G= (p.Gln291=) c.1929G= (p.Gln643=) | |
17 | g.42543878G>T | CA399605286 | NAGLU | c.1872G>T (p.Gln624His) c.1210G>T (n.1210G>T) c.1041G>T (p.Gln347His) c.873G>T (p.Gln291His) c.1929G>T (p.Gln643His) | |
17 | g.42543879G>A | CA399605293 | NAGLU | c.1873G>A (p.Ala625Thr) c.1211G>A (n.1211G>A) c.1042G>A (p.Ala348Thr) c.874G>A (p.Ala292Thr) c.1930G>A (p.Ala644Thr) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543879G>C | CA399605296 | NAGLU | c.1873G>C (p.Ala625Pro) c.1211G>C (n.1211G>C) c.1042G>C (p.Ala348Pro) c.874G>C (p.Ala292Pro) c.1930G>C (p.Ala644Pro) | gnomAD v4 |
17 | g.42543879G= | CA2260530494 | NAGLU | c.1873G= (p.Ala625=) c.1211G= (n.1211G=) c.1042G= (p.Ala348=) c.874G= (p.Ala292=) c.1930G= (p.Ala644=) | |
17 | g.42543879G>T | CA399605300 | NAGLU | c.1873G>T (p.Ala625Ser) c.1211G>T (n.1211G>T) c.1042G>T (p.Ala348Ser) c.874G>T (p.Ala292Ser) c.1930G>T (p.Ala644Ser) | |
17 | g.42543880C>A | CA399605304 | NAGLU | c.1874C>A (p.Ala625Asp) c.1212C>A (n.1212C>A) c.1043C>A (p.Ala348Asp) c.875C>A (p.Ala292Asp) c.1931C>A (p.Ala644Asp) | gnomAD v4 |
17 | g.42543880C>G | CA399605307 | NAGLU | c.1874C>G (p.Ala625Gly) c.1212C>G (n.1212C>G) c.1043C>G (p.Ala348Gly) c.875C>G (p.Ala292Gly) c.1931C>G (p.Ala644Gly) | |
17 | g.42543880C>T | CA399605309 | NAGLU | c.1874C>T (p.Ala625Val) c.1212C>T (n.1212C>T) c.1043C>T (p.Ala348Val) c.875C>T (p.Ala292Val) c.1931C>T (p.Ala644Val) | gnomAD v4 |
17 | g.42543881C>A | CA500218272 | NAGLU | c.1875C>A (p.Ala625=) c.1213C>A (n.1213C>A) c.1044C>A (p.Ala348=) c.876C>A (p.Ala292=) c.1932C>A (p.Ala644=) | |
17 | g.42543881C>G | CA500218271 | NAGLU | c.1875C>G (p.Ala625=) c.1213C>G (n.1213C>G) c.1044C>G (p.Ala348=) c.876C>G (p.Ala292=) c.1932C>G (p.Ala644=) | |
17 | g.42543881C>T | CA500218273 | NAGLU | c.1875C>T (p.Ala625=) c.1213C>T (n.1213C>T) c.1044C>T (p.Ala348=) c.876C>T (p.Ala292=) c.1932C>T (p.Ala644=) | |
17 | g.42543882C>A | CA500218278 | NAGLU | c.1876C>A (p.Arg626=) c.1214C>A (n.1214C>A) c.1045C>A (p.Arg349=) c.877C>A (p.Arg293=) c.1933C>A (p.Arg645=) | gnomAD v4 |
17 | g.42543882C= | CA2260530495 | NAGLU | c.1876C= (p.Arg626=) c.1214C= (n.1214C=) c.1045C= (p.Arg349=) c.877C= (p.Arg293=) c.1933C= (p.Arg645=) | |
17 | g.42543882C>G | CA8577109 | NAGLU | c.1876C>G (p.Arg626Gly) c.1214C>G (n.1214C>G) c.1045C>G (p.Arg349Gly) c.877C>G (p.Arg293Gly) c.1933C>G (p.Arg645Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543882C>T | CA115043 | NAGLU | c.1876C>T (p.Arg626Ter) c.1214C>T (n.1214C>T) c.1045C>T (p.Arg349Ter) c.877C>T (p.Arg293Ter) c.1933C>T (p.Arg645Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543883G>A | CA8577110 | NAGLU | c.1877G>A (p.Arg626Gln) c.1215G>A (n.1215G>A) c.1046G>A (p.Arg349Gln) c.878G>A (p.Arg293Gln) c.1934G>A (p.Arg645Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543883G>C | CA399605319 | NAGLU | c.1877G>C (p.Arg626Pro) c.1215G>C (n.1215G>C) c.1046G>C (p.Arg349Pro) c.878G>C (p.Arg293Pro) c.1934G>C (p.Arg645Pro) | |
17 | g.42543883G= | CA2260530496 | NAGLU | c.1877G= (p.Arg626=) c.1215G= (n.1215G=) c.1046G= (p.Arg349=) c.878G= (p.Arg293=) c.1934G= (p.Arg645=) | |
17 | g.42543883G>T | CA399605322 | NAGLU | c.1877G>T (p.Arg626Leu) c.1215G>T (n.1215G>T) c.1046G>T (p.Arg349Leu) c.878G>T (p.Arg293Leu) c.1934G>T (p.Arg645Leu) | dbSNP gnomAD v4 |
17 | g.42543884A= | CA2260530497 | NAGLU | c.1878A= (p.Arg626=) c.1216A= (n.1216A=) c.1047A= (p.Arg349=) c.879A= (p.Arg293=) c.1935A= (p.Arg645=) | |
17 | g.42543884A>C | CA500218291 | NAGLU | c.1878A>C (p.Arg626=) c.1216A>C (n.1216A>C) c.1047A>C (p.Arg349=) c.879A>C (p.Arg293=) c.1935A>C (p.Arg645=) | |
17 | g.42543884A>G | CA500218296 | NAGLU | c.1878A>G (p.Arg626=) c.1216A>G (n.1216A>G) c.1047A>G (p.Arg349=) c.879A>G (p.Arg293=) c.1935A>G (p.Arg645=) | dbSNP gnomAD v2 |
17 | g.42543884A>T | CA500218294 | NAGLU | c.1878A>T (p.Arg626=) c.1216A>T (n.1216A>T) c.1047A>T (p.Arg349=) c.879A>T (p.Arg293=) c.1935A>T (p.Arg645=) | |
17 | g.42543885G>A | CA399605325 | NAGLU | c.1879G>A (p.Ala627Thr) c.1217G>A (n.1217G>A) c.1048G>A (p.Ala350Thr) c.880G>A (p.Ala294Thr) c.1936G>A (p.Ala646Thr) | ClinVar |
17 | g.42543885G>C | CA399605327 | NAGLU | c.1879G>C (p.Ala627Pro) c.1217G>C (n.1217G>C) c.1048G>C (p.Ala350Pro) c.880G>C (p.Ala294Pro) c.1936G>C (p.Ala646Pro) | |
17 | g.42543885G>T | CA399605330 | NAGLU | c.1879G>T (p.Ala627Ser) c.1217G>T (n.1217G>T) c.1048G>T (p.Ala350Ser) c.880G>T (p.Ala294Ser) c.1936G>T (p.Ala646Ser) | |
17 | g.42543886C>A | CA399605337 | NAGLU | c.1880C>A (p.Ala627Glu) c.1218C>A (n.1218C>A) c.1049C>A (p.Ala350Glu) c.881C>A (p.Ala294Glu) c.1937C>A (p.Ala646Glu) | |
17 | g.42543886C= | CA2260530498 | NAGLU | c.1880C= (p.Ala627=) c.1218C= (n.1218C=) c.1049C= (p.Ala350=) c.881C= (p.Ala294=) c.1937C= (p.Ala646=) | |
17 | g.42543886C>G | CA399605333 | NAGLU | c.1880C>G (p.Ala627Gly) c.1218C>G (n.1218C>G) c.1049C>G (p.Ala350Gly) c.881C>G (p.Ala294Gly) c.1937C>G (p.Ala646Gly) | |
17 | g.42543886C>T | CA8577111 | NAGLU | c.1880C>T (p.Ala627Val) c.1218C>T (n.1218C>T) c.1049C>T (p.Ala350Val) c.881C>T (p.Ala294Val) c.1937C>T (p.Ala646Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543887A>C | CA500218307 | NAGLU | c.1881A>C (p.Ala627=) c.1219A>C (n.1219A>C) c.1050A>C (p.Ala350=) c.882A>C (p.Ala294=) c.1938A>C (p.Ala646=) | |
17 | g.42543887A>G | CA500218308 | NAGLU | c.1881A>G (p.Ala627=) c.1219A>G (n.1219A>G) c.1050A>G (p.Ala350=) c.882A>G (p.Ala294=) c.1938A>G (p.Ala646=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543887A>T | CA500218309 | NAGLU | c.1881A>T (p.Ala627=) c.1219A>T (n.1219A>T) c.1050A>T (p.Ala350=) c.882A>T (p.Ala294=) c.1938A>T (p.Ala646=) | |
17 | g.42543888G>A | CA399605340 | NAGLU | c.1882G>A (p.Ala628Thr) c.1220G>A (n.1220G>A) c.1051G>A (p.Ala351Thr) c.883G>A (p.Ala295Thr) c.1939G>A (p.Ala647Thr) | |
17 | g.42543888G>C | CA399605342 | NAGLU | c.1882G>C (p.Ala628Pro) c.1220G>C (n.1220G>C) c.1051G>C (p.Ala351Pro) c.883G>C (p.Ala295Pro) c.1939G>C (p.Ala647Pro) | |
17 | g.42543888G>T | CA399605344 | NAGLU | c.1882G>T (p.Ala628Ser) c.1220G>T (n.1220G>T) c.1051G>T (p.Ala351Ser) c.883G>T (p.Ala295Ser) c.1939G>T (p.Ala647Ser) | gnomAD v4 |
17 | g.42543889C>A | CA399605348 | NAGLU | c.1883C>A (p.Ala628Glu) c.1221C>A (n.1221C>A) c.1052C>A (p.Ala351Glu) c.884C>A (p.Ala295Glu) c.1940C>A (p.Ala647Glu) | gnomAD v4 |
17 | g.42543889C= | CA2260530499 | NAGLU | c.1883C= (p.Ala628=) c.1221C= (n.1221C=) c.1052C= (p.Ala351=) c.884C= (p.Ala295=) c.1940C= (p.Ala647=) | |
17 | g.42543889C>G | CA399605351 | NAGLU | c.1883C>G (p.Ala628Gly) c.1221C>G (n.1221C>G) c.1052C>G (p.Ala351Gly) c.884C>G (p.Ala295Gly) c.1940C>G (p.Ala647Gly) | |
17 | g.42543889C>T | CA8577112 | NAGLU | c.1883C>T (p.Ala628Val) c.1221C>T (n.1221C>T) c.1052C>T (p.Ala351Val) c.884C>T (p.Ala295Val) c.1940C>T (p.Ala647Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543890G>A | CA8577113 | NAGLU | c.1884G>A (p.Ala628=) c.1222G>A (n.1222G>A) c.1053G>A (p.Ala351=) c.885G>A (p.Ala295=) c.1941G>A (p.Ala647=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543890G>C | CA500218321 | NAGLU | c.1884G>C (p.Ala628=) c.1222G>C (n.1222G>C) c.1053G>C (p.Ala351=) c.885G>C (p.Ala295=) c.1941G>C (p.Ala647=) | |
17 | g.42543890G= | CA2260530500 | NAGLU | c.1884G= (p.Ala628=) c.1222G= (n.1222G=) c.1053G= (p.Ala351=) c.885G= (p.Ala295=) c.1941G= (p.Ala647=) | |
17 | g.42543890G>T | CA500218319 | NAGLU | c.1884G>T (p.Ala628=) c.1222G>T (n.1222G>T) c.1053G>T (p.Ala351=) c.885G>T (p.Ala295=) c.1941G>T (p.Ala647=) | gnomAD v4 |
17 | g.42543891G>A | CA399605358 | NAGLU | c.1885G>A (p.Ala629Thr) c.1223G>A (n.1223G>A) c.1054G>A (p.Ala352Thr) c.886G>A (p.Ala296Thr) c.1942G>A (p.Ala648Thr) | gnomAD v4 |
17 | g.42543891G>C | CA399605361 | NAGLU | c.1885G>C (p.Ala629Pro) c.1223G>C (n.1223G>C) c.1054G>C (p.Ala352Pro) c.886G>C (p.Ala296Pro) c.1942G>C (p.Ala648Pro) | |
17 | g.42543891G>T | CA399605364 | NAGLU | c.1885G>T (p.Ala629Ser) c.1223G>T (n.1223G>T) c.1054G>T (p.Ala352Ser) c.886G>T (p.Ala296Ser) c.1942G>T (p.Ala648Ser) | |
17 | g.42543892C>A | CA399605367 | NAGLU | c.1886C>A (p.Ala629Glu) c.1224C>A (n.1224C>A) c.1055C>A (p.Ala352Glu) c.887C>A (p.Ala296Glu) c.1943C>A (p.Ala648Glu) | gnomAD v4 |
17 | g.42543892C= | CA2260530501 | NAGLU | c.1886C= (p.Ala629=) c.1224C= (n.1224C=) c.1055C= (p.Ala352=) c.887C= (p.Ala296=) c.1943C= (p.Ala648=) | |
17 | g.42543892C>G | CA399605370 | NAGLU | c.1886C>G (p.Ala629Gly) c.1224C>G (n.1224C>G) c.1055C>G (p.Ala352Gly) c.887C>G (p.Ala296Gly) c.1943C>G (p.Ala648Gly) | |
17 | g.42543892C>T | CA399605373 | NAGLU | c.1886C>T (p.Ala629Val) c.1224C>T (n.1224C>T) c.1055C>T (p.Ala352Val) c.887C>T (p.Ala296Val) c.1943C>T (p.Ala648Val) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543893A>C | CA500218337 | NAGLU | c.1887A>C (p.Ala629=) c.1225A>C (n.1225A>C) c.1056A>C (p.Ala352=) c.888A>C (p.Ala296=) c.1944A>C (p.Ala648=) | |
17 | g.42543893A>G | CA500218349 | NAGLU | c.1887A>G (p.Ala629=) c.1225A>G (n.1225A>G) c.1056A>G (p.Ala352=) c.888A>G (p.Ala296=) c.1944A>G (p.Ala648=) | |
17 | g.42543893A>T | CA500218352 | NAGLU | c.1887A>T (p.Ala629=) c.1225A>T (n.1225A>T) c.1056A>T (p.Ala352=) c.888A>T (p.Ala296=) c.1944A>T (p.Ala648=) | |
17 | g.42543894G>A | CA8577114 | NAGLU | c.1888G>A (p.Val630Ile) c.1226G>A (n.1226G>A) c.1057G>A (p.Val353Ile) c.889G>A (p.Val297Ile) c.1945G>A (p.Val649Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543894G>C | CA399605381 | NAGLU | c.1888G>C (p.Val630Leu) c.1226G>C (n.1226G>C) c.1057G>C (p.Val353Leu) c.889G>C (p.Val297Leu) c.1945G>C (p.Val649Leu) | gnomAD v4 |
17 | g.42543894G= | CA2260530502 | NAGLU | c.1888G= (p.Val630=) c.1226G= (n.1226G=) c.1057G= (p.Val353=) c.889G= (p.Val297=) c.1945G= (p.Val649=) | |
17 | g.42543894G>T | CA399605379 | NAGLU | c.1888G>T (p.Val630Phe) c.1226G>T (n.1226G>T) c.1057G>T (p.Val353Phe) c.889G>T (p.Val297Phe) c.1945G>T (p.Val649Phe) | ClinVar dbSNP |
17 | g.42543895T>A | CA399605383 | NAGLU | c.1889T>A (p.Val630Asp) c.1227T>A (n.1227T>A) c.1058T>A (p.Val353Asp) c.890T>A (p.Val297Asp) c.1946T>A (p.Val649Asp) | |
17 | g.42543895T>C | CA399605386 | NAGLU | c.1889T>C (p.Val630Ala) c.1227T>C (n.1227T>C) c.1058T>C (p.Val353Ala) c.890T>C (p.Val297Ala) c.1946T>C (p.Val649Ala) | |
17 | g.42543895T>G | CA8577115 | NAGLU | c.1889T>G (p.Val630Gly) c.1227T>G (n.1227T>G) c.1058T>G (p.Val353Gly) c.890T>G (p.Val297Gly) c.1946T>G (p.Val649Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543895T= | CA2260530503 | NAGLU | c.1889T= (p.Val630=) c.1227T= (n.1227T=) c.1058T= (p.Val353=) c.890T= (p.Val297=) c.1946T= (p.Val649=) | |
17 | g.42543896C>A | CA500218366 | NAGLU | c.1890C>A (p.Val630=) c.1228C>A (n.1228C>A) c.1059C>A (p.Val353=) c.891C>A (p.Val297=) c.1947C>A (p.Val649=) | |
17 | g.42543896C= | CA2260530505 | NAGLU | c.1890C= (p.Val630=) c.1228C= (n.1228C=) c.1059C= (p.Val353=) c.891C= (p.Val297=) c.1947C= (p.Val649=) | |
17 | g.42543896C>G | CA500218369 | NAGLU | c.1890C>G (p.Val630=) c.1228C>G (n.1228C>G) c.1059C>G (p.Val353=) c.891C>G (p.Val297=) c.1947C>G (p.Val649=) | ClinVar dbSNP gnomAD v4 |
17 | g.42543896C>T | CA500218370 | NAGLU | c.1890C>T (p.Val630=) c.1228C>T (n.1228C>T) c.1059C>T (p.Val353=) c.891C>T (p.Val297=) c.1947C>T (p.Val649=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543896_42543900delinsCAGTG | CA2260530504 | NAGLU | c.1890_1894delinsCAGTG (p.Val630=) c.1228_1232delinsCAGTG (n.1228_1232delinsCAGTG) c.1059_1063delinsCAGTG (p.Val353=) c.891_895delinsCAGTG (p.Val297=) c.1947_1951delinsCAGTG (p.Val649=) | |
17 | g.42543897A= | CA2260530506 | NAGLU | c.1891A= (p.Ser631=) c.1229A= (n.1229A=) c.1060A= (p.Ser354=) c.892A= (p.Ser298=) c.1948A= (p.Ser650=) | |
17 | g.42543897A>C | CA399605388 | NAGLU | c.1891A>C (p.Ser631Arg) c.1229A>C (n.1229A>C) c.1060A>C (p.Ser354Arg) c.892A>C (p.Ser298Arg) c.1948A>C (p.Ser650Arg) | |
17 | g.42543897A>G | CA399605389 | NAGLU | c.1891A>G (p.Ser631Gly) c.1229A>G (n.1229A>G) c.1060A>G (p.Ser354Gly) c.892A>G (p.Ser298Gly) c.1948A>G (p.Ser650Gly) | dbSNP gnomAD v2 |
17 | g.42543897A>T | CA399605391 | NAGLU | c.1891A>T (p.Ser631Cys) c.1229A>T (n.1229A>T) c.1060A>T (p.Ser354Cys) c.892A>T (p.Ser298Cys) c.1948A>T (p.Ser650Cys) | dbSNP |
17 | g.42543899_42543902del | CA626218633 | NAGLU | c.1893_1896del (p.Ser631ArgfsTer15) c.1231_1234del (n.1231_1234del) c.1062_1065del (p.Ser354ArgfsTer15) c.894_897del (p.Ser298ArgfsTer15) c.1950_1953del (p.Ser650ArgfsTer15) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543897_42543908del | CA913012294 | NAGLU | c.1891_1902del (p.Ser631_Glu634del) c.1229_1240del (n.1229_1240del) c.1060_1071del (p.Ser354_Glu357del) c.892_903del (p.Ser298_Glu301del) c.1948_1959del (p.Ser650_Glu653del) | |
17 | g.42543897_42543908delinsAGTGAGGCCGAG | CA2260530507 | NAGLU | c.1891_1902delinsAGTGAGGCCGAG (p.Ser631=) c.1229_1240delinsAGTGAGGCCGAG (n.1229_1240delinsAGTGAGGCCGAG) c.1060_1071delinsAGTGAGGCCGAG (p.Ser354=) c.892_903delinsAGTGAGGCCGAG (p.Ser298=) c.1948_1959delinsAGTGAGGCCGAG (p.Ser650=) | |
17 | g.42543898G>A | CA399605393 | NAGLU | c.1892G>A (p.Ser631Asn) c.1230G>A (n.1230G>A) c.1061G>A (p.Ser354Asn) c.893G>A (p.Ser298Asn) c.1949G>A (p.Ser650Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543898G>C | CA399605395 | NAGLU | c.1892G>C (p.Ser631Thr) c.1230G>C (n.1230G>C) c.1061G>C (p.Ser354Thr) c.893G>C (p.Ser298Thr) c.1949G>C (p.Ser650Thr) | |
17 | g.42543898G= | CA2260530508 | NAGLU | c.1892G= (p.Ser631=) c.1230G= (n.1230G=) c.1061G= (p.Ser354=) c.893G= (p.Ser298=) c.1949G= (p.Ser650=) | |
17 | g.42543898G>T | CA399605396 | NAGLU | c.1892G>T (p.Ser631Ile) c.1230G>T (n.1230G>T) c.1061G>T (p.Ser354Ile) c.893G>T (p.Ser298Ile) c.1949G>T (p.Ser650Ile) | ClinVar dbSNP gnomAD v4 |
17 | g.42543899_42543909del | CA658823965 | NAGLU | c.1893_1903del (p.Glu632ArgfsTer?) c.1231_1241del (n.1231_1241del) c.1062_1072del (p.Glu355ArgfsTer?) c.894_904del (p.Glu299ArgfsTer?) c.1950_1960del (p.Glu651ArgfsTer?) | ClinVar dbSNP |
17 | g.42543899T>A | CA399605397 | NAGLU | c.1893T>A (p.Ser631Arg) c.1231T>A (n.1231T>A) c.1062T>A (p.Ser354Arg) c.894T>A (p.Ser298Arg) c.1950T>A (p.Ser650Arg) | |
17 | g.42543899T>C | CA500218375 | NAGLU | c.1893T>C (p.Ser631=) c.1231T>C (n.1231T>C) c.1062T>C (p.Ser354=) c.894T>C (p.Ser298=) c.1950T>C (p.Ser650=) | |
17 | g.42543899T>G | CA399605399 | NAGLU | c.1893T>G (p.Ser631Arg) c.1231T>G (n.1231T>G) c.1062T>G (p.Ser354Arg) c.894T>G (p.Ser298Arg) c.1950T>G (p.Ser650Arg) | |
17 | g.42543900G>A | CA399605401 | NAGLU | c.1894G>A (p.Glu632Lys) c.1232G>A (n.1232G>A) c.1063G>A (p.Glu355Lys) c.895G>A (p.Glu299Lys) c.1951G>A (p.Glu651Lys) | gnomAD v4 |
17 | g.42543900G>C | CA399605402 | NAGLU | c.1894G>C (p.Glu632Gln) c.1232G>C (n.1232G>C) c.1063G>C (p.Glu355Gln) c.895G>C (p.Glu299Gln) c.1951G>C (p.Glu651Gln) | |
17 | g.42543900G>T | CA399605405 | NAGLU | c.1894G>T (p.Glu632Ter) c.1232G>T (n.1232G>T) c.1063G>T (p.Glu355Ter) c.895G>T (p.Glu299Ter) c.1951G>T (p.Glu651Ter) | |
17 | g.42543908_42543913dup | CA2637971728 | NAGLU | c.1902_1907dup (p.Ala635_Asp636insGluAla) c.1240_1245dup (n.1240_1245dup) c.1071_1076dup (p.Ala358_Asp359insGluAla) c.903_908dup (p.Ala302_Asp303insGluAla) c.1959_1964dup (p.Ala654_Asp655insGluAla) | gnomAD v4 |
17 | g.42543901A>C | CA399605411 | NAGLU | c.1895A>C (p.Glu632Ala) c.1233A>C (n.1233A>C) c.1064A>C (p.Glu355Ala) c.896A>C (p.Glu299Ala) c.1952A>C (p.Glu651Ala) | |
17 | g.42543901A>G | CA399605409 | NAGLU | c.1895A>G (p.Glu632Gly) c.1233A>G (n.1233A>G) c.1064A>G (p.Glu355Gly) c.896A>G (p.Glu299Gly) c.1952A>G (p.Glu651Gly) | gnomAD v4 |
17 | g.42543901A>T | CA399605407 | NAGLU | c.1895A>T (p.Glu632Val) c.1233A>T (n.1233A>T) c.1064A>T (p.Glu355Val) c.896A>T (p.Glu299Val) c.1952A>T (p.Glu651Val) | |
17 | g.42543902G>A | CA500218392 | NAGLU | c.1896G>A (p.Glu632=) c.1234G>A (n.1234G>A) c.1065G>A (p.Glu355=) c.897G>A (p.Glu299=) c.1953G>A (p.Glu651=) | ClinVar dbSNP |
17 | g.42543902G>C | CA399605412 | NAGLU | c.1896G>C (p.Glu632Asp) c.1234G>C (n.1234G>C) c.1065G>C (p.Glu355Asp) c.897G>C (p.Glu299Asp) c.1953G>C (p.Glu651Asp) | gnomAD v4 |
17 | g.42543902G>T | CA399605414 | NAGLU | c.1896G>T (p.Glu632Asp) c.1234G>T (n.1234G>T) c.1065G>T (p.Glu355Asp) c.897G>T (p.Glu299Asp) c.1953G>T (p.Glu651Asp) | gnomAD v4 |
17 | g.42543903G>A | CA399605416 | NAGLU | c.1897G>A (p.Ala633Thr) c.1235G>A (n.1235G>A) c.1066G>A (p.Ala356Thr) c.898G>A (p.Ala300Thr) c.1954G>A (p.Ala652Thr) | dbSNP gnomAD v4 |
17 | g.42543903G>C | CA399605417 | NAGLU | c.1897G>C (p.Ala633Pro) c.1235G>C (n.1235G>C) c.1066G>C (p.Ala356Pro) c.898G>C (p.Ala300Pro) c.1954G>C (p.Ala652Pro) | |
17 | g.42543903G= | CA2260530509 | NAGLU | c.1897G= (p.Ala633=) c.1235G= (n.1235G=) c.1066G= (p.Ala356=) c.898G= (p.Ala300=) c.1954G= (p.Ala652=) | |
17 | g.42543903G>T | CA399605418 | NAGLU | c.1897G>T (p.Ala633Ser) c.1235G>T (n.1235G>T) c.1066G>T (p.Ala356Ser) c.898G>T (p.Ala300Ser) c.1954G>T (p.Ala652Ser) | dbSNP |
17 | g.42543904C>A | CA290781121 | NAGLU | c.1898C>A (p.Ala633Asp) c.1236C>A (n.1236C>A) c.1067C>A (p.Ala356Asp) c.899C>A (p.Ala300Asp) c.1955C>A (p.Ala652Asp) | dbSNP gnomAD v4 |
17 | g.42543904C= | CA2260530510 | NAGLU | c.1898C= (p.Ala633=) c.1236C= (n.1236C=) c.1067C= (p.Ala356=) c.899C= (p.Ala300=) c.1955C= (p.Ala652=) | |
17 | g.42543904C>G | CA8577116 | NAGLU | c.1898C>G (p.Ala633Gly) c.1236C>G (n.1236C>G) c.1067C>G (p.Ala356Gly) c.899C>G (p.Ala300Gly) c.1955C>G (p.Ala652Gly) | dbSNP ExAC |
17 | g.42543904C>T | CA399605419 | NAGLU | c.1898C>T (p.Ala633Val) c.1236C>T (n.1236C>T) c.1067C>T (p.Ala356Val) c.899C>T (p.Ala300Val) c.1955C>T (p.Ala652Val) | dbSNP gnomAD v2 |
17 | g.42543905C>A | CA500218410 | NAGLU | c.1899C>A (p.Ala633=) c.1237C>A (n.1237C>A) c.1068C>A (p.Ala356=) c.900C>A (p.Ala300=) c.1956C>A (p.Ala652=) | gnomAD v4 |
17 | g.42543905C= | CA2260530511 | NAGLU | c.1899C= (p.Ala633=) c.1237C= (n.1237C=) c.1068C= (p.Ala356=) c.900C= (p.Ala300=) c.1956C= (p.Ala652=) | |
17 | g.42543905C>G | CA500218406 | NAGLU | c.1899C>G (p.Ala633=) c.1237C>G (n.1237C>G) c.1068C>G (p.Ala356=) c.900C>G (p.Ala300=) c.1956C>G (p.Ala652=) | |
17 | g.42543905C>T | CA8577117 | NAGLU | c.1899C>T (p.Ala633=) c.1237C>T (n.1237C>T) c.1068C>T (p.Ala356=) c.900C>T (p.Ala300=) c.1956C>T (p.Ala652=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543906G>A | CA290781124 | NAGLU | c.1900G>A (p.Glu634Lys) c.1238G>A (n.1238G>A) c.1069G>A (p.Glu357Lys) c.901G>A (p.Glu301Lys) c.1957G>A (p.Glu653Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543906G>C | CA399605420 | NAGLU | c.1900G>C (p.Glu634Gln) c.1238G>C (n.1238G>C) c.1069G>C (p.Glu357Gln) c.901G>C (p.Glu301Gln) c.1957G>C (p.Glu653Gln) | |
17 | g.42543906G= | CA2260530512 | NAGLU | c.1900G= (p.Glu634=) c.1238G= (n.1238G=) c.1069G= (p.Glu357=) c.901G= (p.Glu301=) c.1957G= (p.Glu653=) | |
17 | g.42543906G>T | CA399605421 | NAGLU | c.1900G>T (p.Glu634Ter) c.1238G>T (n.1238G>T) c.1069G>T (p.Glu357Ter) c.901G>T (p.Glu301Ter) c.1957G>T (p.Glu653Ter) | |
17 | g.42543907A>C | CA399605424 | NAGLU | c.1901A>C (p.Glu634Ala) c.1239A>C (n.1239A>C) c.1070A>C (p.Glu357Ala) c.902A>C (p.Glu301Ala) c.1958A>C (p.Glu653Ala) | |
17 | g.42543907A>G | CA399605423 | NAGLU | c.1901A>G (p.Glu634Gly) c.1239A>G (n.1239A>G) c.1070A>G (p.Glu357Gly) c.902A>G (p.Glu301Gly) c.1958A>G (p.Glu653Gly) | gnomAD v4 |
17 | g.42543907A>T | CA399605422 | NAGLU | c.1901A>T (p.Glu634Val) c.1239A>T (n.1239A>T) c.1070A>T (p.Glu357Val) c.902A>T (p.Glu301Val) c.1958A>T (p.Glu653Val) | |
17 | g.42543908G>A | CA500218426 | NAGLU | c.1902G>A (p.Glu634=) c.1240G>A (n.1240G>A) c.1071G>A (p.Glu357=) c.903G>A (p.Glu301=) c.1959G>A (p.Glu653=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.42543908G>C | CA399605425 | NAGLU | c.1902G>C (p.Glu634Asp) c.1240G>C (n.1240G>C) c.1071G>C (p.Glu357Asp) c.903G>C (p.Glu301Asp) c.1959G>C (p.Glu653Asp) | |
17 | g.42543908G= | CA2260530513 | NAGLU | c.1902G= (p.Glu634=) c.1240G= (n.1240G=) c.1071G= (p.Glu357=) c.903G= (p.Glu301=) c.1959G= (p.Glu653=) | |
17 | g.42543908G>T | CA399605426 | NAGLU | c.1902G>T (p.Glu634Asp) c.1240G>T (n.1240G>T) c.1071G>T (p.Glu357Asp) c.903G>T (p.Glu301Asp) c.1959G>T (p.Glu653Asp) | |
17 | g.42543909G>A | CA399605427 | NAGLU | c.1903G>A (p.Ala635Thr) c.1241G>A (n.1241G>A) c.1072G>A (p.Ala358Thr) c.904G>A (p.Ala302Thr) c.1960G>A (p.Ala654Thr) | ClinVar dbSNP gnomAD v2 |
17 | g.42543909G>C | CA399605428 | NAGLU | c.1903G>C (p.Ala635Pro) c.1241G>C (n.1241G>C) c.1072G>C (p.Ala358Pro) c.904G>C (p.Ala302Pro) c.1960G>C (p.Ala654Pro) | |
17 | g.42543909G= | CA2260530514 | NAGLU | c.1903G= (p.Ala635=) c.1241G= (n.1241G=) c.1072G= (p.Ala358=) c.904G= (p.Ala302=) c.1960G= (p.Ala654=) | |
17 | g.42543909G>T | CA399605429 | NAGLU | c.1903G>T (p.Ala635Ser) c.1241G>T (n.1241G>T) c.1072G>T (p.Ala358Ser) c.904G>T (p.Ala302Ser) c.1960G>T (p.Ala654Ser) | |
17 | g.42543910C>A | CA399605430 | NAGLU | c.1904C>A (p.Ala635Asp) c.1242C>A (n.1242C>A) c.1073C>A (p.Ala358Asp) c.905C>A (p.Ala302Asp) c.1961C>A (p.Ala654Asp) | gnomAD v4 |
17 | g.42543910C>G | CA399605431 | NAGLU | c.1904C>G (p.Ala635Gly) c.1242C>G (n.1242C>G) c.1073C>G (p.Ala358Gly) c.905C>G (p.Ala302Gly) c.1961C>G (p.Ala654Gly) | |
17 | g.42543910C>T | CA399605432 | NAGLU | c.1904C>T (p.Ala635Val) c.1242C>T (n.1242C>T) c.1073C>T (p.Ala358Val) c.905C>T (p.Ala302Val) c.1961C>T (p.Ala654Val) | COSMIC |
17 | g.42543911C>A | CA500218442 | NAGLU | c.1905C>A (p.Ala635=) c.1243C>A (n.1243C>A) c.1074C>A (p.Ala358=) c.906C>A (p.Ala302=) c.1962C>A (p.Ala654=) | |
17 | g.42543911C= | CA2260530515 | NAGLU | c.1905C= (p.Ala635=) c.1243C= (n.1243C=) c.1074C= (p.Ala358=) c.906C= (p.Ala302=) c.1962C= (p.Ala654=) | |
17 | g.42543911C>G | CA500218438 | NAGLU | c.1905C>G (p.Ala635=) c.1243C>G (n.1243C>G) c.1074C>G (p.Ala358=) c.906C>G (p.Ala302=) c.1962C>G (p.Ala654=) | |
17 | g.42543911C>T | CA8577118 | NAGLU | c.1905C>T (p.Ala635=) c.1243C>T (n.1243C>T) c.1074C>T (p.Ala358=) c.906C>T (p.Ala302=) c.1962C>T (p.Ala654=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543912G>A | CA8577119 | NAGLU | c.1906G>A (p.Asp636Asn) c.1244G>A (n.1244G>A) c.1075G>A (p.Asp359Asn) c.907G>A (p.Asp303Asn) c.1963G>A (p.Asp655Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543912G>C | CA399605433 | NAGLU | c.1906G>C (p.Asp636His) c.1244G>C (n.1244G>C) c.1075G>C (p.Asp359His) c.907G>C (p.Asp303His) c.1963G>C (p.Asp655His) | |
17 | g.42543912G= | CA2260530516 | NAGLU | c.1906G= (p.Asp636=) c.1244G= (n.1244G=) c.1075G= (p.Asp359=) c.907G= (p.Asp303=) c.1963G= (p.Asp655=) | |
17 | g.42543912G>T | CA399605434 | NAGLU | c.1906G>T (p.Asp636Tyr) c.1244G>T (n.1244G>T) c.1075G>T (p.Asp359Tyr) c.907G>T (p.Asp303Tyr) c.1963G>T (p.Asp655Tyr) | gnomAD v4 |
17 | g.42543913A= | CA2260530517 | NAGLU | c.1907A= (p.Asp636=) c.1245A= (n.1245A=) c.1076A= (p.Asp359=) c.908A= (p.Asp303=) c.1964A= (p.Asp655=) | |
17 | g.42543913A>C | CA399605437 | NAGLU | c.1907A>C (p.Asp636Ala) c.1245A>C (n.1245A>C) c.1076A>C (p.Asp359Ala) c.908A>C (p.Asp303Ala) c.1964A>C (p.Asp655Ala) | |
17 | g.42543913A>G | CA399605436 | NAGLU | c.1907A>G (p.Asp636Gly) c.1245A>G (n.1245A>G) c.1076A>G (p.Asp359Gly) c.908A>G (p.Asp303Gly) c.1964A>G (p.Asp655Gly) | dbSNP |
17 | g.42543913A>T | CA399605435 | NAGLU | c.1907A>T (p.Asp636Val) c.1245A>T (n.1245A>T) c.1076A>T (p.Asp359Val) c.908A>T (p.Asp303Val) c.1964A>T (p.Asp655Val) | |
17 | g.42543914T>A | CA399605438 | NAGLU | c.1908T>A (p.Asp636Glu) c.1246T>A (n.1246T>A) c.1077T>A (p.Asp359Glu) c.909T>A (p.Asp303Glu) c.1965T>A (p.Asp655Glu) | |
17 | g.42543914T>C | CA500218457 | NAGLU | c.1908T>C (p.Asp636=) c.1246T>C (n.1246T>C) c.1077T>C (p.Asp359=) c.909T>C (p.Asp303=) c.1965T>C (p.Asp655=) | |
17 | g.42543914T>G | CA399605439 | NAGLU | c.1908T>G (p.Asp636Glu) c.1246T>G (n.1246T>G) c.1077T>G (p.Asp359Glu) c.909T>G (p.Asp303Glu) c.1965T>G (p.Asp655Glu) | |
17 | g.42543915T>A | CA399605440 | NAGLU | c.1909T>A (p.Phe637Ile) c.1247T>A (n.1247T>A) c.1078T>A (p.Phe360Ile) c.910T>A (p.Phe304Ile) c.1966T>A (p.Phe656Ile) | |
17 | g.42543915T>C | CA399605441 | NAGLU | c.1909T>C (p.Phe637Leu) c.1247T>C (n.1247T>C) c.1078T>C (p.Phe360Leu) c.910T>C (p.Phe304Leu) c.1966T>C (p.Phe656Leu) | ClinVar |
17 | g.42543915T>G | CA399605442 | NAGLU | c.1909T>G (p.Phe637Val) c.1247T>G (n.1247T>G) c.1078T>G (p.Phe360Val) c.910T>G (p.Phe304Val) c.1966T>G (p.Phe656Val) | |
17 | g.42543916_42543918del | CA2695225867 | NAGLU | c.1910_1912del (p.Phe637del) c.1248_1250del (n.1248_1250del) c.1079_1081del (p.Phe360del) c.911_913del (p.Phe304del) c.1967_1969del (p.Phe656del) | |
17 | g.42543916T>A | CA399605443 | NAGLU | c.1910T>A (p.Phe637Tyr) c.1248T>A (n.1248T>A) c.1079T>A (p.Phe360Tyr) c.911T>A (p.Phe304Tyr) c.1967T>A (p.Phe656Tyr) | |
17 | g.42543916T>C | CA399605444 | NAGLU | c.1910T>C (p.Phe637Ser) c.1248T>C (n.1248T>C) c.1079T>C (p.Phe360Ser) c.911T>C (p.Phe304Ser) c.1967T>C (p.Phe656Ser) | |
17 | g.42543916T>G | CA399605445 | NAGLU | c.1910T>G (p.Phe637Cys) c.1248T>G (n.1248T>G) c.1079T>G (p.Phe360Cys) c.911T>G (p.Phe304Cys) c.1967T>G (p.Phe656Cys) | |
17 | g.42543917C>A | CA399605446 | NAGLU | c.1911C>A (p.Phe637Leu) c.1249C>A (n.1249C>A) c.1080C>A (p.Phe360Leu) c.912C>A (p.Phe304Leu) c.1968C>A (p.Phe656Leu) | gnomAD v4 |
17 | g.42543917C= | CA2260530518 | NAGLU | c.1911C= (p.Phe637=) c.1249C= (n.1249C=) c.1080C= (p.Phe360=) c.912C= (p.Phe304=) c.1968C= (p.Phe656=) | |
17 | g.42543917C>G | CA399605447 | NAGLU | c.1911C>G (p.Phe637Leu) c.1249C>G (n.1249C>G) c.1080C>G (p.Phe360Leu) c.912C>G (p.Phe304Leu) c.1968C>G (p.Phe656Leu) | ClinVar |
17 | g.42543917C>T | CA500218490 | NAGLU | c.1911C>T (p.Phe637=) c.1249C>T (n.1249C>T) c.1080C>T (p.Phe360=) c.912C>T (p.Phe304=) c.1968C>T (p.Phe656=) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
17 | g.42543918T>A | CA399605448 | NAGLU | c.1912T>A (p.Tyr638Asn) c.1250T>A (n.1250T>A) c.1081T>A (p.Tyr361Asn) c.913T>A (p.Tyr305Asn) c.1969T>A (p.Tyr657Asn) | |
17 | g.42543918T>C | CA399605449 | NAGLU | c.1912T>C (p.Tyr638His) c.1250T>C (n.1250T>C) c.1081T>C (p.Tyr361His) c.913T>C (p.Tyr305His) c.1969T>C (p.Tyr657His) | |
17 | g.42543918T>G | CA399605450 | NAGLU | c.1912T>G (p.Tyr638Asp) c.1250T>G (n.1250T>G) c.1081T>G (p.Tyr361Asp) c.913T>G (p.Tyr305Asp) c.1969T>G (p.Tyr657Asp) | |
17 | g.42543919A>C | CA399605452 | NAGLU | c.1913A>C (p.Tyr638Ser) c.1251A>C (n.1251A>C) c.1082A>C (p.Tyr361Ser) c.914A>C (p.Tyr305Ser) c.1970A>C (p.Tyr657Ser) | |
17 | g.42543919A>G | CA399605453 | NAGLU | c.1913A>G (p.Tyr638Cys) c.1251A>G (n.1251A>G) c.1082A>G (p.Tyr361Cys) c.914A>G (p.Tyr305Cys) c.1970A>G (p.Tyr657Cys) | ClinVar dbSNP |
17 | g.42543919A>T | CA399605451 | NAGLU | c.1913A>T (p.Tyr638Phe) c.1251A>T (n.1251A>T) c.1082A>T (p.Tyr361Phe) c.914A>T (p.Tyr305Phe) c.1970A>T (p.Tyr657Phe) | |
17 | g.42543920C>A | CA399605454 | NAGLU | c.1914C>A (p.Tyr638Ter) c.1252C>A (n.1252C>A) c.1083C>A (p.Tyr361Ter) c.915C>A (p.Tyr305Ter) c.1971C>A (p.Tyr657Ter) | |
17 | g.42543920C= | CA2260530519 | NAGLU | c.1914C= (p.Tyr638=) c.1252C= (n.1252C=) c.1083C= (p.Tyr361=) c.915C= (p.Tyr305=) c.1971C= (p.Tyr657=) | |
17 | g.42543920C>G | CA399605455 | NAGLU | c.1914C>G (p.Tyr638Ter) c.1252C>G (n.1252C>G) c.1083C>G (p.Tyr361Ter) c.915C>G (p.Tyr305Ter) c.1971C>G (p.Tyr657Ter) | |
17 | g.42543920C>T | CA8577120 | NAGLU | c.1914C>T (p.Tyr638=) c.1252C>T (n.1252C>T) c.1083C>T (p.Tyr361=) c.915C>T (p.Tyr305=) c.1971C>T (p.Tyr657=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G>A | CA399605456 | NAGLU | c.1915G>A (p.Glu639Lys) c.1253G>A (n.1253G>A) c.1084G>A (p.Glu362Lys) c.916G>A (p.Glu306Lys) c.1972G>A (p.Glu658Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G>C | CA290781130 | NAGLU | c.1915G>C (p.Glu639Gln) c.1253G>C (n.1253G>C) c.1084G>C (p.Glu362Gln) c.916G>C (p.Glu306Gln) c.1972G>C (p.Glu658Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.42543921G= | CA2260530520 | NAGLU | c.1915G= (p.Glu639=) c.1253G= (n.1253G=) c.1084G= (p.Glu362=) c.916G= (p.Glu306=) c.1972G= (p.Glu658=) | |
17 | g.42543921G>T | CA399605457 | NAGLU | c.1915G>T (p.Glu639Ter) c.1253G>T (n.1253G>T) c.1084G>T (p.Glu362Ter) c.916G>T (p.Glu306Ter) c.1972G>T (p.Glu658Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.42543921delinsTT | CA2580093761 | NAGLU | c.1915delinsTT (p.Glu639LeufsTer?) c.1253delinsTT (n.1253delinsTT) c.1084delinsTT (p.Glu362LeufsTer?) c.916delinsTT (p.Glu306LeufsTer?) c.1972delinsTT (p.Glu658LeufsTer?) | ClinVar |
17 | g.42543922A= | CA2260530521 | NAGLU | c.1916A= (p.Glu639=) c.1254A= (n.1254A=) c.1085A= (p.Glu362=) c.917A= (p.Glu306=) c.1973A= (p.Glu658=) | |
17 | g.42543922A>C | CA399605460 | NAGLU | c.1916A>C (p.Glu639Ala) c.1254A>C (n.1254A>C) c.1085A>C (p.Glu362Ala) c.917A>C (p.Glu306Ala) c.1973A>C (p.Glu658Ala) | |
17 | g.42543922A>G | CA399605463 | NAGLU | c.1916A>G (p.Glu639Gly) c.1254A>G (n.1254A>G) c.1085A>G (p.Glu362Gly) c.917A>G (p.Glu306Gly) c.1973A>G (p.Glu658Gly) | dbSNP gnomAD v4 |
17 | g.42543922A>T | CA399605462 | NAGLU | c.1916A>T (p.Glu639Val) c.1254A>T (n.1254A>T) c.1085A>T (p.Glu362Val) c.917A>T (p.Glu306Val) c.1973A>T (p.Glu658Val) | |
17 | g.42543923G>A | CA500218516 | NAGLU | c.1917G>A (p.Glu639=) c.1255G>A (n.1255G>A) c.1086G>A (p.Glu362=) c.918G>A (p.Glu306=) c.1974G>A (p.Glu658=) | |
17 | g.42543923G>C | CA399605466 | NAGLU | c.1917G>C (p.Glu639Asp) c.1255G>C (n.1255G>C) c.1086G>C (p.Glu362Asp) c.918G>C (p.Glu306Asp) c.1974G>C (p.Glu658Asp) | dbSNP gnomAD v2 |
17 | g.42543923G= | CA2260530522 | NAGLU | c.1917G= (p.Glu639=) c.1255G= (n.1255G=) c.1086G= (p.Glu362=) c.918G= (p.Glu306=) c.1974G= (p.Glu658=) | |
17 | g.42543923G>T | CA399605467 | NAGLU | c.1917G>T (p.Glu639Asp) c.1255G>T (n.1255G>T) c.1086G>T (p.Glu362Asp) c.918G>T (p.Glu306Asp) c.1974G>T (p.Glu658Asp) | |
17 | g.42543924C>A | CA399605469 | NAGLU | c.1918C>A (p.Gln640Lys) c.1256C>A (n.1256C>A) c.1087C>A (p.Gln363Lys) c.919C>A (p.Gln307Lys) c.1975C>A (p.Gln659Lys) | gnomAD v4 |
17 | g.42543924C= | CA2260530523 | NAGLU | c.1918C= (p.Gln640=) c.1256C= (n.1256C=) c.1087C= (p.Gln363=) c.919C= (p.Gln307=) c.1975C= (p.Gln659=) | |
17 | g.42543924C>G | CA399605471 | NAGLU | c.1918C>G (p.Gln640Glu) c.1256C>G (n.1256C>G) c.1087C>G (p.Gln363Glu) c.919C>G (p.Gln307Glu) c.1975C>G (p.Gln659Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543924C>T | CA8577121 | NAGLU | c.1918C>T (p.Gln640Ter) c.1256C>T (n.1256C>T) c.1087C>T (p.Gln363Ter) c.919C>T (p.Gln307Ter) c.1975C>T (p.Gln659Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543925A= | CA2260530524 | NAGLU | c.1919A= (p.Gln640=) c.1257A= (n.1257A=) c.1088A= (p.Gln363=) c.920A= (p.Gln307=) c.1976A= (p.Gln659=) | |
17 | g.42543925A>C | CA399605474 | NAGLU | c.1919A>C (p.Gln640Pro) c.1257A>C (n.1257A>C) c.1088A>C (p.Gln363Pro) c.920A>C (p.Gln307Pro) c.1976A>C (p.Gln659Pro) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.42543925A>G | CA8577122 | NAGLU | c.1919A>G (p.Gln640Arg) c.1257A>G (n.1257A>G) c.1088A>G (p.Gln363Arg) c.920A>G (p.Gln307Arg) c.1976A>G (p.Gln659Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.42543925A>T | CA399605477 | NAGLU | c.1919A>T (p.Gln640Leu) c.1257A>T (n.1257A>T) c.1088A>T (p.Gln363Leu) c.920A>T (p.Gln307Leu) c.1976A>T (p.Gln659Leu) | gnomAD v4 |