UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49664880C>A | CA376713900 | CHAT | c.2081C>A (p.Ser694Tyr) c.*918C>A (n.*918C>A) n.878C>A c.944C>A (p.Ser315Tyr) c.1727C>A (p.Ser576Tyr) c.1835C>A (p.Ser612Tyr) c.*1812C>A (n.*1812C>A) | |
| 10 | g.49664880C= | CA1908838836 | CHAT | c.2081C= (p.Ser694=) c.*918C= (n.*918C=) n.878C= c.944C= (p.Ser315=) c.1727C= (p.Ser576=) c.1835C= (p.Ser612=) c.*1812C= (n.*1812C=) | |
| 10 | g.49664880C>G | CA206624072 | CHAT | c.2081C>G (p.Ser694Cys) c.*918C>G (n.*918C>G) n.878C>G c.944C>G (p.Ser315Cys) c.1727C>G (p.Ser576Cys) c.1835C>G (p.Ser612Cys) c.*1812C>G (n.*1812C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664880C>T | CA376713904 | CHAT | c.2081C>T (p.Ser694Phe) c.*918C>T (n.*918C>T) n.878C>T c.944C>T (p.Ser315Phe) c.1727C>T (p.Ser576Phe) c.1835C>T (p.Ser612Phe) c.*1812C>T (n.*1812C>T) | |
| 10 | g.49664881T>A | CA469792303 | CHAT | c.2082T>A (p.Ser694=) c.*919T>A (n.*919T>A) n.879T>A c.945T>A (p.Ser315=) c.1728T>A (p.Ser576=) c.1836T>A (p.Ser612=) c.*1813T>A (n.*1813T>A) | |
| 10 | g.49664881T>C | CA469792302 | CHAT | c.2082T>C (p.Ser694=) c.*919T>C (n.*919T>C) n.879T>C c.945T>C (p.Ser315=) c.1728T>C (p.Ser576=) c.1836T>C (p.Ser612=) c.*1813T>C (n.*1813T>C) | dbSNP gnomAD v4 |
| 10 | g.49664881T>G | CA469792301 | CHAT | c.2082T>G (p.Ser694=) c.*919T>G (n.*919T>G) n.879T>G c.945T>G (p.Ser315=) c.1728T>G (p.Ser576=) c.1836T>G (p.Ser612=) c.*1813T>G (n.*1813T>G) | |
| 10 | g.49664882A= | CA1908838837 | CHAT | c.2083A= (p.Ser695=) c.*920A= (n.*920A=) n.880A= c.946A= (p.Ser316=) c.1729A= (p.Ser577=) c.1837A= (p.Ser613=) c.*1814A= (n.*1814A=) | |
| 10 | g.49664882A>C | CA376713908 | CHAT | c.2083A>C (p.Ser695Arg) c.*920A>C (n.*920A>C) n.880A>C c.946A>C (p.Ser316Arg) c.1729A>C (p.Ser577Arg) c.1837A>C (p.Ser613Arg) c.*1814A>C (n.*1814A>C) | |
| 10 | g.49664882A>G | CA5497716 | CHAT | c.2083A>G (p.Ser695Gly) c.*920A>G (n.*920A>G) n.880A>G c.946A>G (p.Ser316Gly) c.1729A>G (p.Ser577Gly) c.1837A>G (p.Ser613Gly) c.*1814A>G (n.*1814A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664882A>T | CA376713912 | CHAT | c.2083A>T (p.Ser695Cys) c.*920A>T (n.*920A>T) n.880A>T c.946A>T (p.Ser316Cys) c.1729A>T (p.Ser577Cys) c.1837A>T (p.Ser613Cys) c.*1814A>T (n.*1814A>T) | |
| 10 | g.49664883G>A | CA376713925 | CHAT | c.2084G>A (p.Ser695Asn) c.*921G>A (n.*921G>A) n.881G>A c.947G>A (p.Ser316Asn) c.1730G>A (p.Ser577Asn) c.1838G>A (p.Ser613Asn) c.*1815G>A (n.*1815G>A) | |
| 10 | g.49664883G>C | CA5497717 | CHAT | c.2084G>C (p.Ser695Thr) c.*921G>C (n.*921G>C) n.881G>C c.947G>C (p.Ser316Thr) c.1730G>C (p.Ser577Thr) c.1838G>C (p.Ser613Thr) c.*1815G>C (n.*1815G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664883G= | CA1908838838 | CHAT | c.2084G= (p.Ser695=) c.*921G= (n.*921G=) n.881G= c.947G= (p.Ser316=) c.1730G= (p.Ser577=) c.1838G= (p.Ser613=) c.*1815G= (n.*1815G=) | |
| 10 | g.49664883G>T | CA376713918 | CHAT | c.2084G>T (p.Ser695Ile) c.*921G>T (n.*921G>T) n.881G>T c.947G>T (p.Ser316Ile) c.1730G>T (p.Ser577Ile) c.1838G>T (p.Ser613Ile) c.*1815G>T (n.*1815G>T) | |
| 10 | g.49664884C>A | CA376713927 | CHAT | c.2085C>A (p.Ser695Arg) c.*922C>A (n.*922C>A) n.882C>A c.948C>A (p.Ser316Arg) c.1731C>A (p.Ser577Arg) c.1839C>A (p.Ser613Arg) c.*1816C>A (n.*1816C>A) | |
| 10 | g.49664884C>G | CA376713930 | CHAT | c.2085C>G (p.Ser695Arg) c.*922C>G (n.*922C>G) n.882C>G c.948C>G (p.Ser316Arg) c.1731C>G (p.Ser577Arg) c.1839C>G (p.Ser613Arg) c.*1816C>G (n.*1816C>G) | |
| 10 | g.49664884C>T | CA469792304 | CHAT | c.2085C>T (p.Ser695=) c.*922C>T (n.*922C>T) n.882C>T c.948C>T (p.Ser316=) c.1731C>T (p.Ser577=) c.1839C>T (p.Ser613=) c.*1816C>T (n.*1816C>T) | |
| 10 | g.49664885T>A | CA376713935 | CHAT | c.2086T>A (p.Phe696Ile) c.*923T>A (n.*923T>A) n.883T>A c.949T>A (p.Phe317Ile) c.1732T>A (p.Phe578Ile) c.1840T>A (p.Phe614Ile) c.*1817T>A (n.*1817T>A) | |
| 10 | g.49664885T>C | CA376713937 | CHAT | c.2086T>C (p.Phe696Leu) c.*923T>C (n.*923T>C) n.883T>C c.949T>C (p.Phe317Leu) c.1732T>C (p.Phe578Leu) c.1840T>C (p.Phe614Leu) c.*1817T>C (n.*1817T>C) | |
| 10 | g.49664885T>G | CA376713939 | CHAT | c.2086T>G (p.Phe696Val) c.*923T>G (n.*923T>G) n.883T>G c.949T>G (p.Phe317Val) c.1732T>G (p.Phe578Val) c.1840T>G (p.Phe614Val) c.*1817T>G (n.*1817T>G) | |
| 10 | g.49664886T>A | CA376713940 | CHAT | c.2087T>A (p.Phe696Tyr) c.*924T>A (n.*924T>A) n.884T>A c.950T>A (p.Phe317Tyr) c.1733T>A (p.Phe578Tyr) c.1841T>A (p.Phe614Tyr) c.*1818T>A (n.*1818T>A) | |
| 10 | g.49664886T>C | CA376713943 | CHAT | c.2087T>C (p.Phe696Ser) c.*924T>C (n.*924T>C) n.884T>C c.950T>C (p.Phe317Ser) c.1733T>C (p.Phe578Ser) c.1841T>C (p.Phe614Ser) c.*1818T>C (n.*1818T>C) | |
| 10 | g.49664886T>G | CA376713946 | CHAT | c.2087T>G (p.Phe696Cys) c.*924T>G (n.*924T>G) n.884T>G c.950T>G (p.Phe317Cys) c.1733T>G (p.Phe578Cys) c.1841T>G (p.Phe614Cys) c.*1818T>G (n.*1818T>G) | |
| 10 | g.49664887T>A | CA376713950 | CHAT | c.2088T>A (p.Phe696Leu) c.*925T>A (n.*925T>A) n.885T>A c.951T>A (p.Phe317Leu) c.1734T>A (p.Phe578Leu) c.1842T>A (p.Phe614Leu) c.*1819T>A (n.*1819T>A) | |
| 10 | g.49664887T>C | CA469792311 | CHAT | c.2088T>C (p.Phe696=) c.*925T>C (n.*925T>C) n.885T>C c.951T>C (p.Phe317=) c.1734T>C (p.Phe578=) c.1842T>C (p.Phe614=) c.*1819T>C (n.*1819T>C) | |
| 10 | g.49664887T>G | CA376713951 | CHAT | c.2088T>G (p.Phe696Leu) c.*925T>G (n.*925T>G) n.885T>G c.951T>G (p.Phe317Leu) c.1734T>G (p.Phe578Leu) c.1842T>G (p.Phe614Leu) c.*1819T>G (n.*1819T>G) | |
| 10 | g.49664888C>A | CA376713953 | CHAT | c.2089C>A (p.His697Asn) c.*926C>A (n.*926C>A) n.886C>A c.952C>A (p.His318Asn) c.1735C>A (p.His579Asn) c.1843C>A (p.His615Asn) c.*1820C>A (n.*1820C>A) | |
| 10 | g.49664888C>G | CA376713956 | CHAT | c.2089C>G (p.His697Asp) c.*926C>G (n.*926C>G) n.886C>G c.952C>G (p.His318Asp) c.1735C>G (p.His579Asp) c.1843C>G (p.His615Asp) c.*1820C>G (n.*1820C>G) | |
| 10 | g.49664888C>T | CA376713958 | CHAT | c.2089C>T (p.His697Tyr) c.*926C>T (n.*926C>T) n.886C>T c.952C>T (p.His318Tyr) c.1735C>T (p.His579Tyr) c.1843C>T (p.His615Tyr) c.*1820C>T (n.*1820C>T) | |
| 10 | g.49664889A>C | CA376713962 | CHAT | c.2090A>C (p.His697Pro) c.*927A>C (n.*927A>C) n.887A>C c.953A>C (p.His318Pro) c.1736A>C (p.His579Pro) c.1844A>C (p.His615Pro) c.*1821A>C (n.*1821A>C) | |
| 10 | g.49664889A>G | CA376713967 | CHAT | c.2090A>G (p.His697Arg) c.*927A>G (n.*927A>G) n.887A>G c.953A>G (p.His318Arg) c.1736A>G (p.His579Arg) c.1844A>G (p.His615Arg) c.*1821A>G (n.*1821A>G) | |
| 10 | g.49664889A>T | CA376713960 | CHAT | c.2090A>T (p.His697Leu) c.*927A>T (n.*927A>T) n.887A>T c.953A>T (p.His318Leu) c.1736A>T (p.His579Leu) c.1844A>T (p.His615Leu) c.*1821A>T (n.*1821A>T) | |
| 10 | g.49664890C>A | CA376713971 | CHAT | c.2091C>A (p.His697Gln) c.*928C>A (n.*928C>A) n.888C>A c.954C>A (p.His318Gln) c.1737C>A (p.His579Gln) c.1845C>A (p.His615Gln) c.*1822C>A (n.*1822C>A) | |
| 10 | g.49664890C>G | CA376713973 | CHAT | c.2091C>G (p.His697Gln) c.*928C>G (n.*928C>G) n.888C>G c.954C>G (p.His318Gln) c.1737C>G (p.His579Gln) c.1845C>G (p.His615Gln) c.*1822C>G (n.*1822C>G) | |
| 10 | g.49664890C>T | CA469792320 | CHAT | c.2091C>T (p.His697=) c.*928C>T (n.*928C>T) n.888C>T c.954C>T (p.His318=) c.1737C>T (p.His579=) c.1845C>T (p.His615=) c.*1822C>T (n.*1822C>T) | gnomAD v4 |
| 10 | g.49664891A>C | CA376713978 | CHAT | c.2092A>C (p.Ser698Arg) c.*929A>C (n.*929A>C) n.889A>C c.955A>C (p.Ser319Arg) c.1738A>C (p.Ser580Arg) c.1846A>C (p.Ser616Arg) c.*1823A>C (n.*1823A>C) | |
| 10 | g.49664891A>G | CA376713981 | CHAT | c.2092A>G (p.Ser698Gly) c.*929A>G (n.*929A>G) n.889A>G c.955A>G (p.Ser319Gly) c.1738A>G (p.Ser580Gly) c.1846A>G (p.Ser616Gly) c.*1823A>G (n.*1823A>G) | |
| 10 | g.49664891A>T | CA376713984 | CHAT | c.2092A>T (p.Ser698Cys) c.*929A>T (n.*929A>T) n.889A>T c.955A>T (p.Ser319Cys) c.1738A>T (p.Ser580Cys) c.1846A>T (p.Ser616Cys) c.*1823A>T (n.*1823A>T) | |
| 10 | g.49664892G>A | CA376713988 | CHAT | c.2093G>A (p.Ser698Asn) c.*930G>A (n.*930G>A) n.890G>A c.956G>A (p.Ser319Asn) c.1739G>A (p.Ser580Asn) c.1847G>A (p.Ser616Asn) c.*1824G>A (n.*1824G>A) | gnomAD v4 |
| 10 | g.49664892G>C | CA376713992 | CHAT | c.2093G>C (p.Ser698Thr) c.*930G>C (n.*930G>C) n.890G>C c.956G>C (p.Ser319Thr) c.1739G>C (p.Ser580Thr) c.1847G>C (p.Ser616Thr) c.*1824G>C (n.*1824G>C) | gnomAD v4 |
| 10 | g.49664892G>T | CA376713997 | CHAT | c.2093G>T (p.Ser698Ile) c.*930G>T (n.*930G>T) n.890G>T c.956G>T (p.Ser319Ile) c.1739G>T (p.Ser580Ile) c.1847G>T (p.Ser616Ile) c.*1824G>T (n.*1824G>T) | gnomAD v4 |
| 10 | g.49664893C>A | CA376713999 | CHAT | c.2094C>A (p.Ser698Arg) c.*931C>A (n.*931C>A) n.891C>A c.957C>A (p.Ser319Arg) c.1740C>A (p.Ser580Arg) c.1848C>A (p.Ser616Arg) c.*1825C>A (n.*1825C>A) | |
| 10 | g.49664893C>G | CA376714000 | CHAT | c.2094C>G (p.Ser698Arg) c.*931C>G (n.*931C>G) n.891C>G c.957C>G (p.Ser319Arg) c.1740C>G (p.Ser580Arg) c.1848C>G (p.Ser616Arg) c.*1825C>G (n.*1825C>G) | |
| 10 | g.49664893C>T | CA469792326 | CHAT | c.2094C>T (p.Ser698=) c.*931C>T (n.*931C>T) n.891C>T c.957C>T (p.Ser319=) c.1740C>T (p.Ser580=) c.1848C>T (p.Ser616=) c.*1825C>T (n.*1825C>T) | ClinVar gnomAD v4 |
| 10 | g.49664894T>A | CA376714005 | CHAT | c.2095T>A (p.Cys699Ser) c.*932T>A (n.*932T>A) n.892T>A c.958T>A (p.Cys320Ser) c.1741T>A (p.Cys581Ser) c.1849T>A (p.Cys617Ser) c.*1826T>A (n.*1826T>A) | |
| 10 | g.49664894T>C | CA376714013 | CHAT | c.2095T>C (p.Cys699Arg) c.*932T>C (n.*932T>C) n.892T>C c.958T>C (p.Cys320Arg) c.1741T>C (p.Cys581Arg) c.1849T>C (p.Cys617Arg) c.*1826T>C (n.*1826T>C) | |
| 10 | g.49664894T>G | CA376714017 | CHAT | c.2095T>G (p.Cys699Gly) c.*932T>G (n.*932T>G) n.892T>G c.958T>G (p.Cys320Gly) c.1741T>G (p.Cys581Gly) c.1849T>G (p.Cys617Gly) c.*1826T>G (n.*1826T>G) | |
| 10 | g.49664895G>A | CA206624077 | CHAT | c.2096G>A (p.Cys699Tyr) c.*933G>A (n.*933G>A) n.893G>A c.959G>A (p.Cys320Tyr) c.1742G>A (p.Cys581Tyr) c.1850G>A (p.Cys617Tyr) c.*1827G>A (n.*1827G>A) | dbSNP |
| 10 | g.49664895G>C | CA376714025 | CHAT | c.2096G>C (p.Cys699Ser) c.*933G>C (n.*933G>C) n.893G>C c.959G>C (p.Cys320Ser) c.1742G>C (p.Cys581Ser) c.1850G>C (p.Cys617Ser) c.*1827G>C (n.*1827G>C) | |
| 10 | g.49664895G= | CA1908838839 | CHAT | c.2096G= (p.Cys699=) c.*933G= (n.*933G=) n.893G= c.959G= (p.Cys320=) c.1742G= (p.Cys581=) c.1850G= (p.Cys617=) c.*1827G= (n.*1827G=) | |
| 10 | g.49664895G>T | CA376714022 | CHAT | c.2096G>T (p.Cys699Phe) c.*933G>T (n.*933G>T) n.893G>T c.959G>T (p.Cys320Phe) c.1742G>T (p.Cys581Phe) c.1850G>T (p.Cys617Phe) c.*1827G>T (n.*1827G>T) | |
| 10 | g.49664896C>A | CA376714028 | CHAT | c.2097C>A (p.Cys699Ter) c.*934C>A (n.*934C>A) n.894C>A c.960C>A (p.Cys320Ter) c.1743C>A (p.Cys581Ter) c.1851C>A (p.Cys617Ter) c.*1828C>A (n.*1828C>A) | |
| 10 | g.49664896C>G | CA376714029 | CHAT | c.2097C>G (p.Cys699Trp) c.*934C>G (n.*934C>G) n.894C>G c.960C>G (p.Cys320Trp) c.1743C>G (p.Cys581Trp) c.1851C>G (p.Cys617Trp) c.*1828C>G (n.*1828C>G) | |
| 10 | g.49664896C>T | CA469792333 | CHAT | c.2097C>T (p.Cys699=) c.*934C>T (n.*934C>T) n.894C>T c.960C>T (p.Cys320=) c.1743C>T (p.Cys581=) c.1851C>T (p.Cys617=) c.*1828C>T (n.*1828C>T) | |
| 10 | g.49664897A>C | CA376714033 | CHAT | c.2098A>C (p.Lys700Gln) c.*935A>C (n.*935A>C) n.895A>C c.961A>C (p.Lys321Gln) c.1744A>C (p.Lys582Gln) c.1852A>C (p.Lys618Gln) c.*1829A>C (n.*1829A>C) | |
| 10 | g.49664897A>G | CA376714036 | CHAT | c.2098A>G (p.Lys700Glu) c.*935A>G (n.*935A>G) n.895A>G c.961A>G (p.Lys321Glu) c.1744A>G (p.Lys582Glu) c.1852A>G (p.Lys618Glu) c.*1829A>G (n.*1829A>G) | |
| 10 | g.49664897A>T | CA376714038 | CHAT | c.2098A>T (p.Lys700Ter) c.*935A>T (n.*935A>T) n.895A>T c.961A>T (p.Lys321Ter) c.1744A>T (p.Lys582Ter) c.1852A>T (p.Lys618Ter) c.*1829A>T (n.*1829A>T) | |
| 10 | g.49664898A>C | CA376714044 | CHAT | c.2099A>C (p.Lys700Thr) c.*936A>C (n.*936A>C) n.896A>C c.962A>C (p.Lys321Thr) c.1745A>C (p.Lys582Thr) c.1853A>C (p.Lys618Thr) c.*1830A>C (n.*1830A>C) | |
| 10 | g.49664898A>G | CA376714047 | CHAT | c.2099A>G (p.Lys700Arg) c.*936A>G (n.*936A>G) n.896A>G c.962A>G (p.Lys321Arg) c.1745A>G (p.Lys582Arg) c.1853A>G (p.Lys618Arg) c.*1830A>G (n.*1830A>G) | |
| 10 | g.49664898A>T | CA376714050 | CHAT | c.2099A>T (p.Lys700Ile) c.*936A>T (n.*936A>T) n.896A>T c.962A>T (p.Lys321Ile) c.1745A>T (p.Lys582Ile) c.1853A>T (p.Lys618Ile) c.*1830A>T (n.*1830A>T) | |
| 10 | g.49664899A= | CA1908838840 | CHAT | c.2100A= (p.Lys700=) c.*937A= (n.*937A=) n.897A= c.963A= (p.Lys321=) c.1746A= (p.Lys582=) c.1854A= (p.Lys618=) c.*1831A= (n.*1831A=) | |
| 10 | g.49664899A>C | CA376714053 | CHAT | c.2100A>C (p.Lys700Asn) c.*937A>C (n.*937A>C) n.897A>C c.963A>C (p.Lys321Asn) c.1746A>C (p.Lys582Asn) c.1854A>C (p.Lys618Asn) c.*1831A>C (n.*1831A>C) | |
| 10 | g.49664899A>G | CA469792342 | CHAT | c.2100A>G (p.Lys700=) c.*937A>G (n.*937A>G) n.897A>G c.963A>G (p.Lys321=) c.1746A>G (p.Lys582=) c.1854A>G (p.Lys618=) c.*1831A>G (n.*1831A>G) | dbSNP |
| 10 | g.49664899A>T | CA376714055 | CHAT | c.2100A>T (p.Lys700Asn) c.*937A>T (n.*937A>T) n.897A>T c.963A>T (p.Lys321Asn) c.1746A>T (p.Lys582Asn) c.1854A>T (p.Lys618Asn) c.*1831A>T (n.*1831A>T) | |
| 10 | g.49664900del | CA2609143297 | CHAT | c.2101del (p.Glu701ArgfsTer18) c.*938del (n.*938del) n.898del c.964del (p.Glu322ArgfsTer18) c.1747del (p.Glu583ArgfsTer18) c.1855del (p.Glu619ArgfsTer18) c.*1832del (n.*1832del) | gnomAD v4 |
| 10 | g.49664900G>A | CA376714067 | CHAT | c.2101G>A (p.Glu701Lys) c.*938G>A (n.*938G>A) n.898G>A c.964G>A (p.Glu322Lys) c.1747G>A (p.Glu583Lys) c.1855G>A (p.Glu619Lys) c.*1832G>A (n.*1832G>A) | gnomAD v4 |
| 10 | g.49664900G>C | CA376714064 | CHAT | c.2101G>C (p.Glu701Gln) c.*938G>C (n.*938G>C) n.898G>C c.964G>C (p.Glu322Gln) c.1747G>C (p.Glu583Gln) c.1855G>C (p.Glu619Gln) c.*1832G>C (n.*1832G>C) | |
| 10 | g.49664900G>T | CA376714061 | CHAT | c.2101G>T (p.Glu701Ter) c.*938G>T (n.*938G>T) n.898G>T c.964G>T (p.Glu322Ter) c.1747G>T (p.Glu583Ter) c.1855G>T (p.Glu619Ter) c.*1832G>T (n.*1832G>T) | |
| 10 | g.49664901A>C | CA376714074 | CHAT | c.2102A>C (p.Glu701Ala) c.*939A>C (n.*939A>C) n.899A>C c.965A>C (p.Glu322Ala) c.1748A>C (p.Glu583Ala) c.1856A>C (p.Glu619Ala) c.*1833A>C (n.*1833A>C) | |
| 10 | g.49664901A>G | CA376714071 | CHAT | c.2102A>G (p.Glu701Gly) c.*939A>G (n.*939A>G) n.899A>G c.965A>G (p.Glu322Gly) c.1748A>G (p.Glu583Gly) c.1856A>G (p.Glu619Gly) c.*1833A>G (n.*1833A>G) | |
| 10 | g.49664901A>T | CA376714077 | CHAT | c.2102A>T (p.Glu701Val) c.*939A>T (n.*939A>T) n.899A>T c.965A>T (p.Glu322Val) c.1748A>T (p.Glu583Val) c.1856A>T (p.Glu619Val) c.*1833A>T (n.*1833A>T) | |
| 10 | g.49664902G>A | CA469792346 | CHAT | c.2103G>A (p.Glu701=) c.*940G>A (n.*940G>A) n.900G>A c.966G>A (p.Glu322=) c.1749G>A (p.Glu583=) c.1857G>A (p.Glu619=) c.*1834G>A (n.*1834G>A) | |
| 10 | g.49664902G>C | CA376714080 | CHAT | c.2103G>C (p.Glu701Asp) c.*940G>C (n.*940G>C) n.900G>C c.966G>C (p.Glu322Asp) c.1749G>C (p.Glu583Asp) c.1857G>C (p.Glu619Asp) c.*1834G>C (n.*1834G>C) | |
| 10 | g.49664902G>T | CA376714082 | CHAT | c.2103G>T (p.Glu701Asp) c.*940G>T (n.*940G>T) n.900G>T c.966G>T (p.Glu322Asp) c.1749G>T (p.Glu583Asp) c.1857G>T (p.Glu619Asp) c.*1834G>T (n.*1834G>T) | |
| 10 | g.49664903A>C | CA376714086 | CHAT | c.2104A>C (p.Thr702Pro) c.*941A>C (n.*941A>C) n.901A>C c.967A>C (p.Thr323Pro) c.1750A>C (p.Thr584Pro) c.1858A>C (p.Thr620Pro) c.*1835A>C (n.*1835A>C) | |
| 10 | g.49664903A>G | CA376714088 | CHAT | c.2104A>G (p.Thr702Ala) c.*941A>G (n.*941A>G) n.901A>G c.967A>G (p.Thr323Ala) c.1750A>G (p.Thr584Ala) c.1858A>G (p.Thr620Ala) c.*1835A>G (n.*1835A>G) | |
| 10 | g.49664903A>T | CA376714091 | CHAT | c.2104A>T (p.Thr702Ser) c.*941A>T (n.*941A>T) n.901A>T c.967A>T (p.Thr323Ser) c.1750A>T (p.Thr584Ser) c.1858A>T (p.Thr620Ser) c.*1835A>T (n.*1835A>T) | |
| 10 | g.49664903_49664906delinsACTT | CA1908838841 | CHAT | c.2104_2107delinsACTT (p.Thr702=) c.*941_*944delinsACTT (n.*941_*944delinsACTT) n.901_904delinsACTT c.967_970delinsACTT (p.Thr323=) c.1750_1753delinsACTT (p.Thr584=) c.1858_1861delinsACTT (p.Thr620=) c.*1835_*1838delinsACTT (n.*1835_*1838delinsACTT) | |
| 10 | g.49664904C>A | CA376714096 | CHAT | c.2105C>A (p.Thr702Asn) c.*942C>A (n.*942C>A) n.902C>A c.968C>A (p.Thr323Asn) c.1751C>A (p.Thr584Asn) c.1859C>A (p.Thr620Asn) c.*1836C>A (n.*1836C>A) | |
| 10 | g.49664904C>G | CA376714099 | CHAT | c.2105C>G (p.Thr702Ser) c.*942C>G (n.*942C>G) n.902C>G c.968C>G (p.Thr323Ser) c.1751C>G (p.Thr584Ser) c.1859C>G (p.Thr620Ser) c.*1836C>G (n.*1836C>G) | gnomAD v4 |
| 10 | g.49664904C>T | CA376714101 | CHAT | c.2105C>T (p.Thr702Ile) c.*942C>T (n.*942C>T) n.902C>T c.968C>T (p.Thr323Ile) c.1751C>T (p.Thr584Ile) c.1859C>T (p.Thr620Ile) c.*1836C>T (n.*1836C>T) | |
| 10 | g.49664909_49664911del | CA5497718 | CHAT | c.2110_2112del (p.Ser704del) c.*947_*949del (n.*947_*949del) n.907_909del c.973_975del (p.Ser325del) c.1756_1758del (p.Ser586del) c.1864_1866del (p.Ser622del) c.*1841_*1843del (n.*1841_*1843del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664905T>A | CA469792359 | CHAT | c.2106T>A (p.Thr702=) c.*943T>A (n.*943T>A) n.903T>A c.969T>A (p.Thr323=) c.1752T>A (p.Thr584=) c.1860T>A (p.Thr620=) c.*1837T>A (n.*1837T>A) | |
| 10 | g.49664905T>C | CA469792358 | CHAT | c.2106T>C (p.Thr702=) c.*943T>C (n.*943T>C) n.903T>C c.969T>C (p.Thr323=) c.1752T>C (p.Thr584=) c.1860T>C (p.Thr620=) c.*1837T>C (n.*1837T>C) | |
| 10 | g.49664905T>G | CA469792357 | CHAT | c.2106T>G (p.Thr702=) c.*943T>G (n.*943T>G) n.903T>G c.969T>G (p.Thr323=) c.1752T>G (p.Thr584=) c.1860T>G (p.Thr620=) c.*1837T>G (n.*1837T>G) | gnomAD v4 |
| 10 | g.49664906T>A | CA376714107 | CHAT | c.2107T>A (p.Ser703Thr) c.*944T>A (n.*944T>A) n.904T>A c.970T>A (p.Ser324Thr) c.1753T>A (p.Ser585Thr) c.1861T>A (p.Ser621Thr) c.*1838T>A (n.*1838T>A) | gnomAD v4 |
| 10 | g.49664906T>C | CA376714110 | CHAT | c.2107T>C (p.Ser703Pro) c.*944T>C (n.*944T>C) n.904T>C c.970T>C (p.Ser324Pro) c.1753T>C (p.Ser585Pro) c.1861T>C (p.Ser621Pro) c.*1838T>C (n.*1838T>C) | |
| 10 | g.49664906T>G | CA376714112 | CHAT | c.2107T>G (p.Ser703Ala) c.*944T>G (n.*944T>G) n.904T>G c.970T>G (p.Ser324Ala) c.1753T>G (p.Ser585Ala) c.1861T>G (p.Ser621Ala) c.*1838T>G (n.*1838T>G) | |
| 10 | g.49664907C>A | CA376714120 | CHAT | c.2108C>A (p.Ser703Tyr) c.*945C>A (n.*945C>A) n.905C>A c.971C>A (p.Ser324Tyr) c.1754C>A (p.Ser585Tyr) c.1862C>A (p.Ser621Tyr) c.*1839C>A (n.*1839C>A) | dbSNP gnomAD v4 |
| 10 | g.49664907C= | CA1908838842 | CHAT | c.2108C= (p.Ser703=) c.*945C= (n.*945C=) n.905C= c.971C= (p.Ser324=) c.1754C= (p.Ser585=) c.1862C= (p.Ser621=) c.*1839C= (n.*1839C=) | |
| 10 | g.49664907C>G | CA376714114 | CHAT | c.2108C>G (p.Ser703Cys) c.*945C>G (n.*945C>G) n.905C>G c.971C>G (p.Ser324Cys) c.1754C>G (p.Ser585Cys) c.1862C>G (p.Ser621Cys) c.*1839C>G (n.*1839C>G) | |
| 10 | g.49664907C>T | CA376714117 | CHAT | c.2108C>T (p.Ser703Phe) c.*945C>T (n.*945C>T) n.905C>T c.971C>T (p.Ser324Phe) c.1754C>T (p.Ser585Phe) c.1862C>T (p.Ser621Phe) c.*1839C>T (n.*1839C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664908T>A | CA469792369 | CHAT | c.2109T>A (p.Ser703=) c.*946T>A (n.*946T>A) n.906T>A c.972T>A (p.Ser324=) c.1755T>A (p.Ser585=) c.1863T>A (p.Ser621=) c.*1840T>A (n.*1840T>A) | |
| 10 | g.49664908T>C | CA469792367 | CHAT | c.2109T>C (p.Ser703=) c.*946T>C (n.*946T>C) n.906T>C c.972T>C (p.Ser324=) c.1755T>C (p.Ser585=) c.1863T>C (p.Ser621=) c.*1840T>C (n.*1840T>C) | |
| 10 | g.49664908T>G | CA469792364 | CHAT | c.2109T>G (p.Ser703=) c.*946T>G (n.*946T>G) n.906T>G c.972T>G (p.Ser324=) c.1755T>G (p.Ser585=) c.1863T>G (p.Ser621=) c.*1840T>G (n.*1840T>G) | |
| 10 | g.49664909T>A | CA376714124 | CHAT | c.2110T>A (p.Ser704Thr) c.*947T>A (n.*947T>A) n.907T>A c.973T>A (p.Ser325Thr) c.1756T>A (p.Ser586Thr) c.1864T>A (p.Ser622Thr) c.*1841T>A (n.*1841T>A) | |
| 10 | g.49664909T>C | CA376714127 | CHAT | c.2110T>C (p.Ser704Pro) c.*947T>C (n.*947T>C) n.907T>C c.973T>C (p.Ser325Pro) c.1756T>C (p.Ser586Pro) c.1864T>C (p.Ser622Pro) c.*1841T>C (n.*1841T>C) | gnomAD v4 |
| 10 | g.49664909T>G | CA376714129 | CHAT | c.2110T>G (p.Ser704Ala) c.*947T>G (n.*947T>G) n.907T>G c.973T>G (p.Ser325Ala) c.1756T>G (p.Ser586Ala) c.1864T>G (p.Ser622Ala) c.*1841T>G (n.*1841T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664909T= | CA1908838843 | CHAT | c.2110T= (p.Ser704=) c.*947T= (n.*947T=) n.907T= c.973T= (p.Ser325=) c.1756T= (p.Ser586=) c.1864T= (p.Ser622=) c.*1841T= (n.*1841T=) | |
| 10 | g.49664910C>A | CA376714131 | CHAT | c.2111C>A (p.Ser704Tyr) c.*948C>A (n.*948C>A) n.908C>A c.974C>A (p.Ser325Tyr) c.1757C>A (p.Ser586Tyr) c.1865C>A (p.Ser622Tyr) c.*1842C>A (n.*1842C>A) | |
| 10 | g.49664910C>G | CA376714134 | CHAT | c.2111C>G (p.Ser704Cys) c.*948C>G (n.*948C>G) n.908C>G c.974C>G (p.Ser325Cys) c.1757C>G (p.Ser586Cys) c.1865C>G (p.Ser622Cys) c.*1842C>G (n.*1842C>G) | |
| 10 | g.49664910C>T | CA376714139 | CHAT | c.2111C>T (p.Ser704Phe) c.*948C>T (n.*948C>T) n.908C>T c.974C>T (p.Ser325Phe) c.1757C>T (p.Ser586Phe) c.1865C>T (p.Ser622Phe) c.*1842C>T (n.*1842C>T) | |
| 10 | g.49664911T>A | CA469792377 | CHAT | c.2112T>A (p.Ser704=) c.*949T>A (n.*949T>A) n.909T>A c.975T>A (p.Ser325=) c.1758T>A (p.Ser586=) c.1866T>A (p.Ser622=) c.*1843T>A (n.*1843T>A) | |
| 10 | g.49664911T>C | CA469792376 | CHAT | c.2112T>C (p.Ser704=) c.*949T>C (n.*949T>C) n.909T>C c.975T>C (p.Ser325=) c.1758T>C (p.Ser586=) c.1866T>C (p.Ser622=) c.*1843T>C (n.*1843T>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664911T>G | CA469792378 | CHAT | c.2112T>G (p.Ser704=) c.*949T>G (n.*949T>G) n.909T>G c.975T>G (p.Ser325=) c.1758T>G (p.Ser586=) c.1866T>G (p.Ser622=) c.*1843T>G (n.*1843T>G) | |
| 10 | g.49664911T= | CA1908838844 | CHAT | c.2112T= (p.Ser704=) c.*949T= (n.*949T=) n.909T= c.975T= (p.Ser325=) c.1758T= (p.Ser586=) c.1866T= (p.Ser622=) c.*1843T= (n.*1843T=) | |
| 10 | g.49664912A= | CA1908838845 | CHAT | c.2113A= (p.Ser705=) c.*950A= (n.*950A=) n.910A= c.976A= (p.Ser326=) c.1759A= (p.Ser587=) c.1867A= (p.Ser623=) c.*1844A= (n.*1844A=) | |
| 10 | g.49664912A>C | CA376714142 | CHAT | c.2113A>C (p.Ser705Arg) c.*950A>C (n.*950A>C) n.910A>C c.976A>C (p.Ser326Arg) c.1759A>C (p.Ser587Arg) c.1867A>C (p.Ser623Arg) c.*1844A>C (n.*1844A>C) | |
| 10 | g.49664912A>G | CA376714144 | CHAT | c.2113A>G (p.Ser705Gly) c.*950A>G (n.*950A>G) n.910A>G c.976A>G (p.Ser326Gly) c.1759A>G (p.Ser587Gly) c.1867A>G (p.Ser623Gly) c.*1844A>G (n.*1844A>G) | |
| 10 | g.49664912A>T | CA376714146 | CHAT | c.2113A>T (p.Ser705Cys) c.*950A>T (n.*950A>T) n.910A>T c.976A>T (p.Ser326Cys) c.1759A>T (p.Ser587Cys) c.1867A>T (p.Ser623Cys) c.*1844A>T (n.*1844A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664913G>A | CA376714150 | CHAT | c.2114G>A (p.Ser705Asn) c.*951G>A (n.*951G>A) n.911G>A c.977G>A (p.Ser326Asn) c.1760G>A (p.Ser587Asn) c.1868G>A (p.Ser623Asn) c.*1845G>A (n.*1845G>A) | |
| 10 | g.49664913G>C | CA376714153 | CHAT | c.2114G>C (p.Ser705Thr) c.*951G>C (n.*951G>C) n.911G>C c.977G>C (p.Ser326Thr) c.1760G>C (p.Ser587Thr) c.1868G>C (p.Ser623Thr) c.*1845G>C (n.*1845G>C) | |
| 10 | g.49664913G>T | CA376714155 | CHAT | c.2114G>T (p.Ser705Ile) c.*951G>T (n.*951G>T) n.911G>T c.977G>T (p.Ser326Ile) c.1760G>T (p.Ser587Ile) c.1868G>T (p.Ser623Ile) c.*1845G>T (n.*1845G>T) | |
| 10 | g.49664914C>A | CA376714161 | CHAT | c.2115C>A (p.Ser705Arg) c.*952C>A (n.*952C>A) n.912C>A c.978C>A (p.Ser326Arg) c.1761C>A (p.Ser587Arg) c.1869C>A (p.Ser623Arg) c.*1846C>A (n.*1846C>A) | gnomAD v4 |
| 10 | g.49664914C= | CA1908838846 | CHAT | c.2115C= (p.Ser705=) c.*952C= (n.*952C=) n.912C= c.978C= (p.Ser326=) c.1761C= (p.Ser587=) c.1869C= (p.Ser623=) c.*1846C= (n.*1846C=) | |
| 10 | g.49664914C>G | CA376714158 | CHAT | c.2115C>G (p.Ser705Arg) c.*952C>G (n.*952C>G) n.912C>G c.978C>G (p.Ser326Arg) c.1761C>G (p.Ser587Arg) c.1869C>G (p.Ser623Arg) c.*1846C>G (n.*1846C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664914C>T | CA469792386 | CHAT | c.2115C>T (p.Ser705=) c.*952C>T (n.*952C>T) n.912C>T c.978C>T (p.Ser326=) c.1761C>T (p.Ser587=) c.1869C>T (p.Ser623=) c.*1846C>T (n.*1846C>T) | |
| 10 | g.49664915A>C | CA376714164 | CHAT | c.2116A>C (p.Lys706Gln) c.*953A>C (n.*953A>C) n.913A>C c.979A>C (p.Lys327Gln) c.1762A>C (p.Lys588Gln) c.1870A>C (p.Lys624Gln) c.*1847A>C (n.*1847A>C) | |
| 10 | g.49664915A>G | CA376714168 | CHAT | c.2116A>G (p.Lys706Glu) c.*953A>G (n.*953A>G) n.913A>G c.979A>G (p.Lys327Glu) c.1762A>G (p.Lys588Glu) c.1870A>G (p.Lys624Glu) c.*1847A>G (n.*1847A>G) | |
| 10 | g.49664915A>T | CA376714173 | CHAT | c.2116A>T (p.Lys706Ter) c.*953A>T (n.*953A>T) n.913A>T c.979A>T (p.Lys327Ter) c.1762A>T (p.Lys588Ter) c.1870A>T (p.Lys624Ter) c.*1847A>T (n.*1847A>T) | |
| 10 | g.49664916A= | CA1908838847 | CHAT | c.2117A= (p.Lys706=) c.*954A= (n.*954A=) n.914A= c.980A= (p.Lys327=) c.1763A= (p.Lys588=) c.1871A= (p.Lys624=) c.*1848A= (n.*1848A=) | |
| 10 | g.49664916A>C | CA376714177 | CHAT | c.2117A>C (p.Lys706Thr) c.*954A>C (n.*954A>C) n.914A>C c.980A>C (p.Lys327Thr) c.1763A>C (p.Lys588Thr) c.1871A>C (p.Lys624Thr) c.*1848A>C (n.*1848A>C) | |
| 10 | g.49664916A>G | CA376714178 | CHAT | c.2117A>G (p.Lys706Arg) c.*954A>G (n.*954A>G) n.914A>G c.980A>G (p.Lys327Arg) c.1763A>G (p.Lys588Arg) c.1871A>G (p.Lys624Arg) c.*1848A>G (n.*1848A>G) | ClinVar dbSNP |
| 10 | g.49664916A>T | CA376714179 | CHAT | c.2117A>T (p.Lys706Met) c.*954A>T (n.*954A>T) n.914A>T c.980A>T (p.Lys327Met) c.1763A>T (p.Lys588Met) c.1871A>T (p.Lys624Met) c.*1848A>T (n.*1848A>T) | COSMIC COSMIC |
| 10 | g.49664917G>A | CA469792392 | CHAT | c.2118G>A (p.Lys706=) c.*955G>A (n.*955G>A) n.915G>A c.981G>A (p.Lys327=) c.1764G>A (p.Lys588=) c.1872G>A (p.Lys624=) c.*1849G>A (n.*1849G>A) | |
| 10 | g.49664917G>C | CA376714181 | CHAT | c.2118G>C (p.Lys706Asn) c.*955G>C (n.*955G>C) n.915G>C c.981G>C (p.Lys327Asn) c.1764G>C (p.Lys588Asn) c.1872G>C (p.Lys624Asn) c.*1849G>C (n.*1849G>C) | |
| 10 | g.49664917G>T | CA376714185 | CHAT | c.2118G>T (p.Lys706Asn) c.*955G>T (n.*955G>T) n.915G>T c.981G>T (p.Lys327Asn) c.1764G>T (p.Lys588Asn) c.1872G>T (p.Lys624Asn) c.*1849G>T (n.*1849G>T) | |
| 10 | g.49664918T>A | CA376714188 | CHAT | c.2119T>A (p.Phe707Ile) c.*956T>A (n.*956T>A) n.916T>A c.982T>A (p.Phe328Ile) c.1765T>A (p.Phe589Ile) c.1873T>A (p.Phe625Ile) c.*1850T>A (n.*1850T>A) | |
| 10 | g.49664918T>C | CA376714192 | CHAT | c.2119T>C (p.Phe707Leu) c.*956T>C (n.*956T>C) n.916T>C c.982T>C (p.Phe328Leu) c.1765T>C (p.Phe589Leu) c.1873T>C (p.Phe625Leu) c.*1850T>C (n.*1850T>C) | |
| 10 | g.49664918T>G | CA376714195 | CHAT | c.2119T>G (p.Phe707Val) c.*956T>G (n.*956T>G) n.916T>G c.982T>G (p.Phe328Val) c.1765T>G (p.Phe589Val) c.1873T>G (p.Phe625Val) c.*1850T>G (n.*1850T>G) | |
| 10 | g.49664919T>A | CA376714198 | CHAT | c.2120T>A (p.Phe707Tyr) c.*957T>A (n.*957T>A) n.917T>A c.983T>A (p.Phe328Tyr) c.1766T>A (p.Phe589Tyr) c.1874T>A (p.Phe625Tyr) c.*1851T>A (n.*1851T>A) | |
| 10 | g.49664919T>C | CA376714201 | CHAT | c.2120T>C (p.Phe707Ser) c.*957T>C (n.*957T>C) n.917T>C c.983T>C (p.Phe328Ser) c.1766T>C (p.Phe589Ser) c.1874T>C (p.Phe625Ser) c.*1851T>C (n.*1851T>C) | |
| 10 | g.49664919T>G | CA206624081 | CHAT | c.2120T>G (p.Phe707Cys) c.*957T>G (n.*957T>G) n.917T>G c.983T>G (p.Phe328Cys) c.1766T>G (p.Phe589Cys) c.1874T>G (p.Phe625Cys) c.*1851T>G (n.*1851T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664919T= | CA1908838848 | CHAT | c.2120T= (p.Phe707=) c.*957T= (n.*957T=) n.917T= c.983T= (p.Phe328=) c.1766T= (p.Phe589=) c.1874T= (p.Phe625=) c.*1851T= (n.*1851T=) | |
| 10 | g.49664920T>A | CA376714210 | CHAT | c.2121T>A (p.Phe707Leu) c.*958T>A (n.*958T>A) n.918T>A c.984T>A (p.Phe328Leu) c.1767T>A (p.Phe589Leu) c.1875T>A (p.Phe625Leu) c.*1852T>A (n.*1852T>A) | |
| 10 | g.49664920T>C | CA469792394 | CHAT | c.2121T>C (p.Phe707=) c.*958T>C (n.*958T>C) n.918T>C c.984T>C (p.Phe328=) c.1767T>C (p.Phe589=) c.1875T>C (p.Phe625=) c.*1852T>C (n.*1852T>C) | |
| 10 | g.49664920T>G | CA376714208 | CHAT | c.2121T>G (p.Phe707Leu) c.*958T>G (n.*958T>G) n.918T>G c.984T>G (p.Phe328Leu) c.1767T>G (p.Phe589Leu) c.1875T>G (p.Phe625Leu) c.*1852T>G (n.*1852T>G) | |
| 10 | g.49664921G>A | CA376714213 | CHAT | c.2122G>A (p.Ala708Thr) c.*959G>A (n.*959G>A) n.919G>A c.985G>A (p.Ala329Thr) c.1768G>A (p.Ala590Thr) c.1876G>A (p.Ala626Thr) c.*1853G>A (n.*1853G>A) | |
| 10 | g.49664921G>C | CA376714217 | CHAT | c.2122G>C (p.Ala708Pro) c.*959G>C (n.*959G>C) n.919G>C c.985G>C (p.Ala329Pro) c.1768G>C (p.Ala590Pro) c.1876G>C (p.Ala626Pro) c.*1853G>C (n.*1853G>C) | dbSNP |
| 10 | g.49664921G= | CA1908838849 | CHAT | c.2122G= (p.Ala708=) c.*959G= (n.*959G=) n.919G= c.985G= (p.Ala329=) c.1768G= (p.Ala590=) c.1876G= (p.Ala626=) c.*1853G= (n.*1853G=) | |
| 10 | g.49664921G>T | CA376714221 | CHAT | c.2122G>T (p.Ala708Ser) c.*959G>T (n.*959G>T) n.919G>T c.985G>T (p.Ala329Ser) c.1768G>T (p.Ala590Ser) c.1876G>T (p.Ala626Ser) c.*1853G>T (n.*1853G>T) | |
| 10 | g.49664922C>A | CA376714224 | CHAT | c.2123C>A (p.Ala708Glu) c.*960C>A (n.*960C>A) n.920C>A c.986C>A (p.Ala329Glu) c.1769C>A (p.Ala590Glu) c.1877C>A (p.Ala626Glu) c.*1854C>A (n.*1854C>A) | |
| 10 | g.49664922C>G | CA376714227 | CHAT | c.2123C>G (p.Ala708Gly) c.*960C>G (n.*960C>G) n.920C>G c.986C>G (p.Ala329Gly) c.1769C>G (p.Ala590Gly) c.1877C>G (p.Ala626Gly) c.*1854C>G (n.*1854C>G) | |
| 10 | g.49664922C>T | CA376714230 | CHAT | c.2123C>T (p.Ala708Val) c.*960C>T (n.*960C>T) n.920C>T c.986C>T (p.Ala329Val) c.1769C>T (p.Ala590Val) c.1877C>T (p.Ala626Val) c.*1854C>T (n.*1854C>T) | |
| 10 | g.49664923A>C | CA469792399 | CHAT | c.2124A>C (p.Ala708=) c.*961A>C (n.*961A>C) n.921A>C c.987A>C (p.Ala329=) c.1770A>C (p.Ala590=) c.1878A>C (p.Ala626=) c.*1855A>C (n.*1855A>C) | dbSNP |
| 10 | g.49664923A>G | CA469792398 | CHAT | c.2124A>G (p.Ala708=) c.*961A>G (n.*961A>G) n.921A>G c.987A>G (p.Ala329=) c.1770A>G (p.Ala590=) c.1878A>G (p.Ala626=) c.*1855A>G (n.*1855A>G) | |
| 10 | g.49664923A>T | CA469792400 | CHAT | c.2124A>T (p.Ala708=) c.*961A>T (n.*961A>T) n.921A>T c.987A>T (p.Ala329=) c.1770A>T (p.Ala590=) c.1878A>T (p.Ala626=) c.*1855A>T (n.*1855A>T) | |
| 10 | g.49664924A>C | CA376714234 | CHAT | c.2125A>C (p.Lys709Gln) c.*962A>C (n.*962A>C) n.922A>C c.988A>C (p.Lys330Gln) c.1771A>C (p.Lys591Gln) c.1879A>C (p.Lys627Gln) c.*1856A>C (n.*1856A>C) | |
| 10 | g.49664924A>G | CA376714238 | CHAT | c.2125A>G (p.Lys709Glu) c.*962A>G (n.*962A>G) n.922A>G c.988A>G (p.Lys330Glu) c.1771A>G (p.Lys591Glu) c.1879A>G (p.Lys627Glu) c.*1856A>G (n.*1856A>G) | |
| 10 | g.49664924A>T | CA376714241 | CHAT | c.2125A>T (p.Lys709Ter) c.*962A>T (n.*962A>T) n.922A>T c.988A>T (p.Lys330Ter) c.1771A>T (p.Lys591Ter) c.1879A>T (p.Lys627Ter) c.*1856A>T (n.*1856A>T) | |
| 10 | g.49664925A= | CA1908838850 | CHAT | c.2126A= (p.Lys709=) c.*963A= (n.*963A=) n.923A= c.989A= (p.Lys330=) c.1772A= (p.Lys591=) c.1880A= (p.Lys627=) c.*1857A= (n.*1857A=) | |
| 10 | g.49664925A>C | CA376714246 | CHAT | c.2126A>C (p.Lys709Thr) c.*963A>C (n.*963A>C) n.923A>C c.989A>C (p.Lys330Thr) c.1772A>C (p.Lys591Thr) c.1880A>C (p.Lys627Thr) c.*1857A>C (n.*1857A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664925A>G | CA376714249 | CHAT | c.2126A>G (p.Lys709Arg) c.*963A>G (n.*963A>G) n.923A>G c.989A>G (p.Lys330Arg) c.1772A>G (p.Lys591Arg) c.1880A>G (p.Lys627Arg) c.*1857A>G (n.*1857A>G) | |
| 10 | g.49664925A>T | CA376714251 | CHAT | c.2126A>T (p.Lys709Ile) c.*963A>T (n.*963A>T) n.923A>T c.989A>T (p.Lys330Ile) c.1772A>T (p.Lys591Ile) c.1880A>T (p.Lys627Ile) c.*1857A>T (n.*1857A>T) | |
| 10 | g.49664926A= | CA1908838851 | CHAT | c.2127A= (p.Lys709=) c.*964A= (n.*964A=) n.924A= c.990A= (p.Lys330=) c.1773A= (p.Lys591=) c.1881A= (p.Lys627=) c.*1858A= (n.*1858A=) | |
| 10 | g.49664926A>C | CA5497719 | CHAT | c.2127A>C (p.Lys709Asn) c.*964A>C (n.*964A>C) n.924A>C c.990A>C (p.Lys330Asn) c.1773A>C (p.Lys591Asn) c.1881A>C (p.Lys627Asn) c.*1858A>C (n.*1858A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664926A>G | CA469792403 | CHAT | c.2127A>G (p.Lys709=) c.*964A>G (n.*964A>G) n.924A>G c.990A>G (p.Lys330=) c.1773A>G (p.Lys591=) c.1881A>G (p.Lys627=) c.*1858A>G (n.*1858A>G) | |
| 10 | g.49664926A>T | CA376714265 | CHAT | c.2127A>T (p.Lys709Asn) c.*964A>T (n.*964A>T) n.924A>T c.990A>T (p.Lys330Asn) c.1773A>T (p.Lys591Asn) c.1881A>T (p.Lys627Asn) c.*1858A>T (n.*1858A>T) | |
| 10 | g.49664927del | CA2559775615 | CHAT | c.2128del (p.Ala710LeufsTer9) c.*965del (n.*965del) n.925del c.991del (p.Ala331LeufsTer9) c.1774del (p.Ala592LeufsTer9) c.1882del (p.Ala628LeufsTer9) c.*1859del (n.*1859del) | |
| 10 | g.49664927G>A | CA376714280 | CHAT | c.2128G>A (p.Ala710Thr) c.*965G>A (n.*965G>A) n.925G>A c.991G>A (p.Ala331Thr) c.1774G>A (p.Ala592Thr) c.1882G>A (p.Ala628Thr) c.*1859G>A (n.*1859G>A) | |
| 10 | g.49664927G>C | CA376714277 | CHAT | c.2128G>C (p.Ala710Pro) c.*965G>C (n.*965G>C) n.925G>C c.991G>C (p.Ala331Pro) c.1774G>C (p.Ala592Pro) c.1882G>C (p.Ala628Pro) c.*1859G>C (n.*1859G>C) | |
| 10 | g.49664927G>T | CA376714275 | CHAT | c.2128G>T (p.Ala710Ser) c.*965G>T (n.*965G>T) n.925G>T c.991G>T (p.Ala331Ser) c.1774G>T (p.Ala592Ser) c.1882G>T (p.Ala628Ser) c.*1859G>T (n.*1859G>T) | |
| 10 | g.49664928C>A | CA376714285 | CHAT | c.2129C>A (p.Ala710Asp) c.*966C>A (n.*966C>A) n.926C>A c.992C>A (p.Ala331Asp) c.1775C>A (p.Ala592Asp) c.1883C>A (p.Ala628Asp) c.*1860C>A (n.*1860C>A) | |
| 10 | g.49664928C>G | CA376714291 | CHAT | c.2129C>G (p.Ala710Gly) c.*966C>G (n.*966C>G) n.926C>G c.992C>G (p.Ala331Gly) c.1775C>G (p.Ala592Gly) c.1883C>G (p.Ala628Gly) c.*1860C>G (n.*1860C>G) | |
| 10 | g.49664928C>T | CA376714287 | CHAT | c.2129C>T (p.Ala710Val) c.*966C>T (n.*966C>T) n.926C>T c.992C>T (p.Ala331Val) c.1775C>T (p.Ala592Val) c.1883C>T (p.Ala628Val) c.*1860C>T (n.*1860C>T) | |
| 10 | g.49664929T>A | CA469792409 | CHAT | c.2130T>A (p.Ala710=) c.*967T>A (n.*967T>A) n.927T>A c.993T>A (p.Ala331=) c.1776T>A (p.Ala592=) c.1884T>A (p.Ala628=) c.*1861T>A (n.*1861T>A) | |
| 10 | g.49664929T>C | CA469792408 | CHAT | c.2130T>C (p.Ala710=) c.*967T>C (n.*967T>C) n.927T>C c.993T>C (p.Ala331=) c.1776T>C (p.Ala592=) c.1884T>C (p.Ala628=) c.*1861T>C (n.*1861T>C) | gnomAD v4 |
| 10 | g.49664929T>G | CA469792407 | CHAT | c.2130T>G (p.Ala710=) c.*967T>G (n.*967T>G) n.927T>G c.993T>G (p.Ala331=) c.1776T>G (p.Ala592=) c.1884T>G (p.Ala628=) c.*1861T>G (n.*1861T>G) | |
| 10 | g.49664930G>A | CA376714297 | CHAT | c.2131G>A (p.Val711Met) c.*968G>A (n.*968G>A) n.928G>A c.994G>A (p.Val332Met) c.1777G>A (p.Val593Met) c.1885G>A (p.Val629Met) c.*1862G>A (n.*1862G>A) | dbSNP |
| 10 | g.49664930G>C | CA376714299 | CHAT | c.2131G>C (p.Val711Leu) c.*968G>C (n.*968G>C) n.928G>C c.994G>C (p.Val332Leu) c.1777G>C (p.Val593Leu) c.1885G>C (p.Val629Leu) c.*1862G>C (n.*1862G>C) | |
| 10 | g.49664930G= | CA1908838852 | CHAT | c.2131G= (p.Val711=) c.*968G= (n.*968G=) n.928G= c.994G= (p.Val332=) c.1777G= (p.Val593=) c.1885G= (p.Val629=) c.*1862G= (n.*1862G=) | |
| 10 | g.49664930G>T | CA376714302 | CHAT | c.2131G>T (p.Val711Leu) c.*968G>T (n.*968G>T) n.928G>T c.994G>T (p.Val332Leu) c.1777G>T (p.Val593Leu) c.1885G>T (p.Val629Leu) c.*1862G>T (n.*1862G>T) | |
| 10 | g.49664931T>A | CA376714307 | CHAT | c.2132T>A (p.Val711Glu) c.*969T>A (n.*969T>A) n.929T>A c.995T>A (p.Val332Glu) c.1778T>A (p.Val593Glu) c.1886T>A (p.Val629Glu) c.*1863T>A (n.*1863T>A) | |
| 10 | g.49664931T>C | CA206624086 | CHAT | c.2132T>C (p.Val711Ala) c.*969T>C (n.*969T>C) n.929T>C c.995T>C (p.Val332Ala) c.1778T>C (p.Val593Ala) c.1886T>C (p.Val629Ala) c.*1863T>C (n.*1863T>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664931T>G | CA376714313 | CHAT | c.2132T>G (p.Val711Gly) c.*969T>G (n.*969T>G) n.929T>G c.995T>G (p.Val332Gly) c.1778T>G (p.Val593Gly) c.1886T>G (p.Val629Gly) c.*1863T>G (n.*1863T>G) | |
| 10 | g.49664931T= | CA1908838853 | CHAT | c.2132T= (p.Val711=) c.*969T= (n.*969T=) n.929T= c.995T= (p.Val332=) c.1778T= (p.Val593=) c.1886T= (p.Val629=) c.*1863T= (n.*1863T=) | |
| 10 | g.49664932G>A | CA206624091 | CHAT | c.2133G>A (p.Val711=) c.*970G>A (n.*970G>A) n.930G>A c.996G>A (p.Val332=) c.1779G>A (p.Val593=) c.1887G>A (p.Val629=) c.*1864G>A (n.*1864G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664932G>C | CA469792412 | CHAT | c.2133G>C (p.Val711=) c.*970G>C (n.*970G>C) n.930G>C c.996G>C (p.Val332=) c.1779G>C (p.Val593=) c.1887G>C (p.Val629=) c.*1864G>C (n.*1864G>C) | |
| 10 | g.49664932G= | CA1908838854 | CHAT | c.2133G= (p.Val711=) c.*970G= (n.*970G=) n.930G= c.996G= (p.Val332=) c.1779G= (p.Val593=) c.1887G= (p.Val629=) c.*1864G= (n.*1864G=) | |
| 10 | g.49664932G>T | CA469792411 | CHAT | c.2133G>T (p.Val711=) c.*970G>T (n.*970G>T) n.930G>T c.996G>T (p.Val332=) c.1779G>T (p.Val593=) c.1887G>T (p.Val629=) c.*1864G>T (n.*1864G>T) | |
| 10 | g.49664933G>A | CA376714317 | CHAT | c.2134G>A (p.Glu712Lys) c.*971G>A (n.*971G>A) n.931G>A c.997G>A (p.Glu333Lys) c.1780G>A (p.Glu594Lys) c.1888G>A (p.Glu630Lys) c.*1865G>A (n.*1865G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664933G>C | CA376714321 | CHAT | c.2134G>C (p.Glu712Gln) c.*971G>C (n.*971G>C) n.931G>C c.997G>C (p.Glu333Gln) c.1780G>C (p.Glu594Gln) c.1888G>C (p.Glu630Gln) c.*1865G>C (n.*1865G>C) | |
| 10 | g.49664933G= | CA1908838855 | CHAT | c.2134G= (p.Glu712=) c.*971G= (n.*971G=) n.931G= c.997G= (p.Glu333=) c.1780G= (p.Glu594=) c.1888G= (p.Glu630=) c.*1865G= (n.*1865G=) | |
| 10 | g.49664933G>T | CA376714325 | CHAT | c.2134G>T (p.Glu712Ter) c.*971G>T (n.*971G>T) n.931G>T c.997G>T (p.Glu333Ter) c.1780G>T (p.Glu594Ter) c.1888G>T (p.Glu630Ter) c.*1865G>T (n.*1865G>T) | |
| 10 | g.49664934A>C | CA376714329 | CHAT | c.2135A>C (p.Glu712Ala) c.*972A>C (n.*972A>C) n.932A>C c.998A>C (p.Glu333Ala) c.1781A>C (p.Glu594Ala) c.1889A>C (p.Glu630Ala) c.*1866A>C (n.*1866A>C) | |
| 10 | g.49664934A>G | CA376714331 | CHAT | c.2135A>G (p.Glu712Gly) c.*972A>G (n.*972A>G) n.932A>G c.998A>G (p.Glu333Gly) c.1781A>G (p.Glu594Gly) c.1889A>G (p.Glu630Gly) c.*1866A>G (n.*1866A>G) | |
| 10 | g.49664934A>T | CA376714334 | CHAT | c.2135A>T (p.Glu712Val) c.*972A>T (n.*972A>T) n.932A>T c.998A>T (p.Glu333Val) c.1781A>T (p.Glu594Val) c.1889A>T (p.Glu630Val) c.*1866A>T (n.*1866A>T) | |
| 10 | g.49664935A>C | CA376714339 | CHAT | c.2136A>C (p.Glu712Asp) c.*973A>C (n.*973A>C) n.933A>C c.999A>C (p.Glu333Asp) c.1782A>C (p.Glu594Asp) c.1890A>C (p.Glu630Asp) c.*1867A>C (n.*1867A>C) | |
| 10 | g.49664935A>G | CA469792417 | CHAT | c.2136A>G (p.Glu712=) c.*973A>G (n.*973A>G) n.933A>G c.999A>G (p.Glu333=) c.1782A>G (p.Glu594=) c.1890A>G (p.Glu630=) c.*1867A>G (n.*1867A>G) | |
| 10 | g.49664935A>T | CA376714341 | CHAT | c.2136A>T (p.Glu712Asp) c.*973A>T (n.*973A>T) n.933A>T c.999A>T (p.Glu333Asp) c.1782A>T (p.Glu594Asp) c.1890A>T (p.Glu630Asp) c.*1867A>T (n.*1867A>T) | |
| 10 | g.49664936G>A | CA376714344 | CHAT | c.2137G>A (p.Glu713Lys) c.*974G>A (n.*974G>A) n.934G>A c.1000G>A (p.Glu334Lys) c.1783G>A (p.Glu595Lys) c.1891G>A (p.Glu631Lys) c.*1868G>A (n.*1868G>A) | |
| 10 | g.49664936G>C | CA376714347 | CHAT | c.2137G>C (p.Glu713Gln) c.*974G>C (n.*974G>C) n.934G>C c.1000G>C (p.Glu334Gln) c.1783G>C (p.Glu595Gln) c.1891G>C (p.Glu631Gln) c.*1868G>C (n.*1868G>C) | |
| 10 | g.49664936G>T | CA376714349 | CHAT | c.2137G>T (p.Glu713Ter) c.*974G>T (n.*974G>T) n.934G>T c.1000G>T (p.Glu334Ter) c.1783G>T (p.Glu595Ter) c.1891G>T (p.Glu631Ter) c.*1868G>T (n.*1868G>T) | |
| 10 | g.49664937A>C | CA376714357 | CHAT | c.2138A>C (p.Glu713Ala) c.*975A>C (n.*975A>C) n.935A>C c.1001A>C (p.Glu334Ala) c.1784A>C (p.Glu595Ala) c.1892A>C (p.Glu631Ala) c.*1869A>C (n.*1869A>C) | |
| 10 | g.49664937A>G | CA376714360 | CHAT | c.2138A>G (p.Glu713Gly) c.*975A>G (n.*975A>G) n.935A>G c.1001A>G (p.Glu334Gly) c.1784A>G (p.Glu595Gly) c.1892A>G (p.Glu631Gly) c.*1869A>G (n.*1869A>G) | |
| 10 | g.49664937A>T | CA376714363 | CHAT | c.2138A>T (p.Glu713Val) c.*975A>T (n.*975A>T) n.935A>T c.1001A>T (p.Glu334Val) c.1784A>T (p.Glu595Val) c.1892A>T (p.Glu631Val) c.*1869A>T (n.*1869A>T) | |
| 10 | g.49664938A= | CA1908838856 | CHAT | c.2139A= (p.Glu713=) c.*976A= (n.*976A=) n.936A= c.1002A= (p.Glu334=) c.1785A= (p.Glu595=) c.1893A= (p.Glu631=) c.*1870A= (n.*1870A=) | |
| 10 | g.49664938A>C | CA5497720 | CHAT | c.2139A>C (p.Glu713Asp) c.*976A>C (n.*976A>C) n.936A>C c.1002A>C (p.Glu334Asp) c.1785A>C (p.Glu595Asp) c.1893A>C (p.Glu631Asp) c.*1870A>C (n.*1870A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664938A>G | CA469792425 | CHAT | c.2139A>G (p.Glu713=) c.*976A>G (n.*976A>G) n.936A>G c.1002A>G (p.Glu334=) c.1785A>G (p.Glu595=) c.1893A>G (p.Glu631=) c.*1870A>G (n.*1870A>G) | |
| 10 | g.49664938A>T | CA376714368 | CHAT | c.2139A>T (p.Glu713Asp) c.*976A>T (n.*976A>T) n.936A>T c.1002A>T (p.Glu334Asp) c.1785A>T (p.Glu595Asp) c.1893A>T (p.Glu631Asp) c.*1870A>T (n.*1870A>T) | |
| 10 | g.49664939A>C | CA376714373 | CHAT | c.2140A>C (p.Ser714Arg) c.*977A>C (n.*977A>C) n.937A>C c.1003A>C (p.Ser335Arg) c.1786A>C (p.Ser596Arg) c.1894A>C (p.Ser632Arg) c.*1871A>C (n.*1871A>C) | |
| 10 | g.49664939A>G | CA376714375 | CHAT | c.2140A>G (p.Ser714Gly) c.*977A>G (n.*977A>G) n.937A>G c.1003A>G (p.Ser335Gly) c.1786A>G (p.Ser596Gly) c.1894A>G (p.Ser632Gly) c.*1871A>G (n.*1871A>G) | |
| 10 | g.49664939A>T | CA376714379 | CHAT | c.2140A>T (p.Ser714Cys) c.*977A>T (n.*977A>T) n.937A>T c.1003A>T (p.Ser335Cys) c.1786A>T (p.Ser596Cys) c.1894A>T (p.Ser632Cys) c.*1871A>T (n.*1871A>T) | |
| 10 | g.49664940G>A | CA5497721 | CHAT | c.2141G>A (p.Ser714Asn) c.*978G>A (n.*978G>A) n.938G>A c.1004G>A (p.Ser335Asn) c.1787G>A (p.Ser596Asn) c.1895G>A (p.Ser632Asn) c.*1872G>A (n.*1872G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664940G>C | CA376714386 | CHAT | c.2141G>C (p.Ser714Thr) c.*978G>C (n.*978G>C) n.938G>C c.1004G>C (p.Ser335Thr) c.1787G>C (p.Ser596Thr) c.1895G>C (p.Ser632Thr) c.*1872G>C (n.*1872G>C) | |
| 10 | g.49664940G= | CA1908838857 | CHAT | c.2141G= (p.Ser714=) c.*978G= (n.*978G=) n.938G= c.1004G= (p.Ser335=) c.1787G= (p.Ser596=) c.1895G= (p.Ser632=) c.*1872G= (n.*1872G=) | |
| 10 | g.49664940G>T | CA376714382 | CHAT | c.2141G>T (p.Ser714Ile) c.*978G>T (n.*978G>T) n.938G>T c.1004G>T (p.Ser335Ile) c.1787G>T (p.Ser596Ile) c.1895G>T (p.Ser632Ile) c.*1872G>T (n.*1872G>T) | |
| 10 | g.49664941C>A | CA206624099 | CHAT | c.2142C>A (p.Ser714Arg) c.*979C>A (n.*979C>A) n.939C>A c.1005C>A (p.Ser335Arg) c.1788C>A (p.Ser596Arg) c.1896C>A (p.Ser632Arg) c.*1873C>A (n.*1873C>A) | dbSNP |
| 10 | g.49664941C= | CA1908838858 | CHAT | c.2142C= (p.Ser714=) c.*979C= (n.*979C=) n.939C= c.1005C= (p.Ser335=) c.1788C= (p.Ser596=) c.1896C= (p.Ser632=) c.*1873C= (n.*1873C=) | |
| 10 | g.49664941C>G | CA376714388 | CHAT | c.2142C>G (p.Ser714Arg) c.*979C>G (n.*979C>G) n.939C>G c.1005C>G (p.Ser335Arg) c.1788C>G (p.Ser596Arg) c.1896C>G (p.Ser632Arg) c.*1873C>G (n.*1873C>G) | |
| 10 | g.49664941C>T | CA469792427 | CHAT | c.2142C>T (p.Ser714=) c.*979C>T (n.*979C>T) n.939C>T c.1005C>T (p.Ser335=) c.1788C>T (p.Ser596=) c.1896C>T (p.Ser632=) c.*1873C>T (n.*1873C>T) | dbSNP |
| 10 | g.49664942C>A | CA376714394 | CHAT | c.2143C>A (p.Leu715Ile) c.*980C>A (n.*980C>A) n.940C>A c.1006C>A (p.Leu336Ile) c.1789C>A (p.Leu597Ile) c.1897C>A (p.Leu633Ile) c.*1874C>A (n.*1874C>A) | |
| 10 | g.49664942C= | CA1908838859 | CHAT | c.2143C= (p.Leu715=) c.*980C= (n.*980C=) n.940C= c.1006C= (p.Leu336=) c.1789C= (p.Leu597=) c.1897C= (p.Leu633=) c.*1874C= (n.*1874C=) | |
| 10 | g.49664942C>G | CA376714398 | CHAT | c.2143C>G (p.Leu715Val) c.*980C>G (n.*980C>G) n.940C>G c.1006C>G (p.Leu336Val) c.1789C>G (p.Leu597Val) c.1897C>G (p.Leu633Val) c.*1874C>G (n.*1874C>G) | |
| 10 | g.49664942C>T | CA376714399 | CHAT | c.2143C>T (p.Leu715Phe) c.*980C>T (n.*980C>T) n.940C>T c.1006C>T (p.Leu336Phe) c.1789C>T (p.Leu597Phe) c.1897C>T (p.Leu633Phe) c.*1874C>T (n.*1874C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664943T>A | CA376714410 | CHAT | c.2144T>A (p.Leu715His) c.*981T>A (n.*981T>A) n.941T>A c.1007T>A (p.Leu336His) c.1790T>A (p.Leu597His) c.1898T>A (p.Leu633His) c.*1875T>A (n.*1875T>A) | |
| 10 | g.49664943T>C | CA376714424 | CHAT | c.2144T>C (p.Leu715Pro) c.*981T>C (n.*981T>C) n.941T>C c.1007T>C (p.Leu336Pro) c.1790T>C (p.Leu597Pro) c.1898T>C (p.Leu633Pro) c.*1875T>C (n.*1875T>C) | dbSNP gnomAD v4 |
| 10 | g.49664943T>G | CA376714425 | CHAT | c.2144T>G (p.Leu715Arg) c.*981T>G (n.*981T>G) n.941T>G c.1007T>G (p.Leu336Arg) c.1790T>G (p.Leu597Arg) c.1898T>G (p.Leu633Arg) c.*1875T>G (n.*1875T>G) | |
| 10 | g.49664943T= | CA1908838860 | CHAT | c.2144T= (p.Leu715=) c.*981T= (n.*981T=) n.941T= c.1007T= (p.Leu336=) c.1790T= (p.Leu597=) c.1898T= (p.Leu633=) c.*1875T= (n.*1875T=) | |
| 10 | g.49664944C>A | CA469792430 | CHAT | c.2145C>A (p.Leu715=) c.*982C>A (n.*982C>A) n.942C>A c.1008C>A (p.Leu336=) c.1791C>A (p.Leu597=) c.1899C>A (p.Leu633=) c.*1876C>A (n.*1876C>A) | |
| 10 | g.49664944C= | CA1908838861 | CHAT | c.2145C= (p.Leu715=) c.*982C= (n.*982C=) n.942C= c.1008C= (p.Leu336=) c.1791C= (p.Leu597=) c.1899C= (p.Leu633=) c.*1876C= (n.*1876C=) | |
| 10 | g.49664944C>G | CA469792428 | CHAT | c.2145C>G (p.Leu715=) c.*982C>G (n.*982C>G) n.942C>G c.1008C>G (p.Leu336=) c.1791C>G (p.Leu597=) c.1899C>G (p.Leu633=) c.*1876C>G (n.*1876C>G) | |
| 10 | g.49664944C>T | CA5497722 | CHAT | c.2145C>T (p.Leu715=) c.*982C>T (n.*982C>T) n.942C>T c.1008C>T (p.Leu336=) c.1791C>T (p.Leu597=) c.1899C>T (p.Leu633=) c.*1876C>T (n.*1876C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664945A>C | CA376714429 | CHAT | c.2146A>C (p.Ile716Leu) c.*983A>C (n.*983A>C) n.943A>C c.1009A>C (p.Ile337Leu) c.1792A>C (p.Ile598Leu) c.1900A>C (p.Ile634Leu) c.*1877A>C (n.*1877A>C) | |
| 10 | g.49664945A>G | CA376714431 | CHAT | c.2146A>G (p.Ile716Val) c.*983A>G (n.*983A>G) n.943A>G c.1009A>G (p.Ile337Val) c.1792A>G (p.Ile598Val) c.1900A>G (p.Ile634Val) c.*1877A>G (n.*1877A>G) | |
| 10 | g.49664945A>T | CA376714433 | CHAT | c.2146A>T (p.Ile716Phe) c.*983A>T (n.*983A>T) n.943A>T c.1009A>T (p.Ile337Phe) c.1792A>T (p.Ile598Phe) c.1900A>T (p.Ile634Phe) c.*1877A>T (n.*1877A>T) | |
| 10 | g.49664946T>A | CA376714436 | CHAT | c.2147T>A (p.Ile716Asn) c.*984T>A (n.*984T>A) n.944T>A c.1010T>A (p.Ile337Asn) c.1793T>A (p.Ile598Asn) c.1901T>A (p.Ile634Asn) c.*1878T>A (n.*1878T>A) | |
| 10 | g.49664946T>C | CA376714438 | CHAT | c.2147T>C (p.Ile716Thr) c.*984T>C (n.*984T>C) n.944T>C c.1010T>C (p.Ile337Thr) c.1793T>C (p.Ile598Thr) c.1901T>C (p.Ile634Thr) c.*1878T>C (n.*1878T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664946T>G | CA376714442 | CHAT | c.2147T>G (p.Ile716Ser) c.*984T>G (n.*984T>G) n.944T>G c.1010T>G (p.Ile337Ser) c.1793T>G (p.Ile598Ser) c.1901T>G (p.Ile634Ser) c.*1878T>G (n.*1878T>G) | |
| 10 | g.49664946T= | CA1908838862 | CHAT | c.2147T= (p.Ile716=) c.*984T= (n.*984T=) n.944T= c.1010T= (p.Ile337=) c.1793T= (p.Ile598=) c.1901T= (p.Ile634=) c.*1878T= (n.*1878T=) | |
| 10 | g.49664947T>A | CA469792436 | CHAT | c.2148T>A (p.Ile716=) c.*985T>A (n.*985T>A) n.945T>A c.1011T>A (p.Ile337=) c.1794T>A (p.Ile598=) c.1902T>A (p.Ile634=) c.*1879T>A (n.*1879T>A) | |
| 10 | g.49664947T>C | CA469792434 | CHAT | c.2148T>C (p.Ile716=) c.*985T>C (n.*985T>C) n.945T>C c.1011T>C (p.Ile337=) c.1794T>C (p.Ile598=) c.1902T>C (p.Ile634=) c.*1879T>C (n.*1879T>C) | |
| 10 | g.49664947T>G | CA376714445 | CHAT | c.2148T>G (p.Ile716Met) c.*985T>G (n.*985T>G) n.945T>G c.1011T>G (p.Ile337Met) c.1794T>G (p.Ile598Met) c.1902T>G (p.Ile634Met) c.*1879T>G (n.*1879T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664947T= | CA1908838863 | CHAT | c.2148T= (p.Ile716=) c.*985T= (n.*985T=) n.945T= c.1011T= (p.Ile337=) c.1794T= (p.Ile598=) c.1902T= (p.Ile634=) c.*1879T= (n.*1879T=) | |
| 10 | g.49664948G>A | CA376714448 | CHAT | c.2149G>A (p.Asp717Asn) c.*986G>A (n.*986G>A) n.946G>A c.1012G>A (p.Asp338Asn) c.1795G>A (p.Asp599Asn) c.1903G>A (p.Asp635Asn) c.*1880G>A (n.*1880G>A) | gnomAD v4 |
| 10 | g.49664948G>C | CA376714450 | CHAT | c.2149G>C (p.Asp717His) c.*986G>C (n.*986G>C) n.946G>C c.1012G>C (p.Asp338His) c.1795G>C (p.Asp599His) c.1903G>C (p.Asp635His) c.*1880G>C (n.*1880G>C) | |
| 10 | g.49664948G>T | CA376714451 | CHAT | c.2149G>T (p.Asp717Tyr) c.*986G>T (n.*986G>T) n.946G>T c.1012G>T (p.Asp338Tyr) c.1795G>T (p.Asp599Tyr) c.1903G>T (p.Asp635Tyr) c.*1880G>T (n.*1880G>T) | dbSNP |
| 10 | g.49664949A>C | CA376714455 | CHAT | c.2150A>C (p.Asp717Ala) c.*987A>C (n.*987A>C) n.947A>C c.1013A>C (p.Asp338Ala) c.1796A>C (p.Asp599Ala) c.1904A>C (p.Asp635Ala) c.*1881A>C (n.*1881A>C) | |
| 10 | g.49664949A>G | CA376714458 | CHAT | c.2150A>G (p.Asp717Gly) c.*987A>G (n.*987A>G) n.947A>G c.1013A>G (p.Asp338Gly) c.1796A>G (p.Asp599Gly) c.1904A>G (p.Asp635Gly) c.*1881A>G (n.*1881A>G) | |
| 10 | g.49664949A>T | CA376714462 | CHAT | c.2150A>T (p.Asp717Val) c.*987A>T (n.*987A>T) n.947A>T c.1013A>T (p.Asp338Val) c.1796A>T (p.Asp599Val) c.1904A>T (p.Asp635Val) c.*1881A>T (n.*1881A>T) | |
| 10 | g.49664950C>A | CA376714464 | CHAT | c.2151C>A (p.Asp717Glu) c.*988C>A (n.*988C>A) n.948C>A c.1014C>A (p.Asp338Glu) c.1797C>A (p.Asp599Glu) c.1905C>A (p.Asp635Glu) c.*1882C>A (n.*1882C>A) | |
| 10 | g.49664950C>G | CA376714465 | CHAT | c.2151C>G (p.Asp717Glu) c.*988C>G (n.*988C>G) n.948C>G c.1014C>G (p.Asp338Glu) c.1797C>G (p.Asp599Glu) c.1905C>G (p.Asp635Glu) c.*1882C>G (n.*1882C>G) | |
| 10 | g.49664950C>T | CA469792437 | CHAT | c.2151C>T (p.Asp717=) c.*988C>T (n.*988C>T) n.948C>T c.1014C>T (p.Asp338=) c.1797C>T (p.Asp599=) c.1905C>T (p.Asp635=) c.*1882C>T (n.*1882C>T) | ClinVar |
| 10 | g.49664951A= | CA1908838864 | CHAT | c.2152A= (p.Met718=) c.*989A= (n.*989A=) n.949A= c.1015A= (p.Met339=) c.1798A= (p.Met600=) c.1906A= (p.Met636=) c.*1883A= (n.*1883A=) | |
| 10 | g.49664951A>C | CA376714470 | CHAT | c.2152A>C (p.Met718Leu) c.*989A>C (n.*989A>C) n.949A>C c.1015A>C (p.Met339Leu) c.1798A>C (p.Met600Leu) c.1906A>C (p.Met636Leu) c.*1883A>C (n.*1883A>C) | gnomAD v4 |
| 10 | g.49664951A>G | CA376714477 | CHAT | c.2152A>G (p.Met718Val) c.*989A>G (n.*989A>G) n.949A>G c.1015A>G (p.Met339Val) c.1798A>G (p.Met600Val) c.1906A>G (p.Met636Val) c.*1883A>G (n.*1883A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664951A>T | CA376714478 | CHAT | c.2152A>T (p.Met718Leu) c.*989A>T (n.*989A>T) n.949A>T c.1015A>T (p.Met339Leu) c.1798A>T (p.Met600Leu) c.1906A>T (p.Met636Leu) c.*1883A>T (n.*1883A>T) | gnomAD v4 |
| 10 | g.49664952T>A | CA376714485 | CHAT | c.2153T>A (p.Met718Lys) c.*990T>A (n.*990T>A) n.950T>A c.1016T>A (p.Met339Lys) c.1799T>A (p.Met600Lys) c.1907T>A (p.Met636Lys) c.*1884T>A (n.*1884T>A) | |
| 10 | g.49664952T>C | CA376714486 | CHAT | c.2153T>C (p.Met718Thr) c.*990T>C (n.*990T>C) n.950T>C c.1016T>C (p.Met339Thr) c.1799T>C (p.Met600Thr) c.1907T>C (p.Met636Thr) c.*1884T>C (n.*1884T>C) | |
| 10 | g.49664952T>G | CA376714488 | CHAT | c.2153T>G (p.Met718Arg) c.*990T>G (n.*990T>G) n.950T>G c.1016T>G (p.Met339Arg) c.1799T>G (p.Met600Arg) c.1907T>G (p.Met636Arg) c.*1884T>G (n.*1884T>G) | |
| 10 | g.49664953G>A | CA376714497 | CHAT | c.2154G>A (p.Met718Ile) c.*991G>A (n.*991G>A) n.951G>A c.1017G>A (p.Met339Ile) c.1800G>A (p.Met600Ile) c.1908G>A (p.Met636Ile) c.*1885G>A (n.*1885G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664953G>C | CA376714501 | CHAT | c.2154G>C (p.Met718Ile) c.*991G>C (n.*991G>C) n.951G>C c.1017G>C (p.Met339Ile) c.1800G>C (p.Met600Ile) c.1908G>C (p.Met636Ile) c.*1885G>C (n.*1885G>C) | |
| 10 | g.49664953G= | CA1908838865 | CHAT | c.2154G= (p.Met718=) c.*991G= (n.*991G=) n.951G= c.1017G= (p.Met339=) c.1800G= (p.Met600=) c.1908G= (p.Met636=) c.*1885G= (n.*1885G=) | |
| 10 | g.49664953G>T | CA376714493 | CHAT | c.2154G>T (p.Met718Ile) c.*991G>T (n.*991G>T) n.951G>T c.1017G>T (p.Met339Ile) c.1800G>T (p.Met600Ile) c.1908G>T (p.Met636Ile) c.*1885G>T (n.*1885G>T) | |
| 10 | g.49664957_49664958del | CA2580615468 | CHAT | c.2158_2159del (p.Asp720ProfsTer9) c.*995_*996del (n.*995_*996del) n.955_956del c.1021_1022del (p.Asp341ProfsTer9) c.1804_1805del (p.Asp602ProfsTer9) c.1912_1913del (p.Asp638ProfsTer9) c.*1889_*1890del (n.*1889_*1890del) | ClinVar dbSNP |
| 10 | g.49664954A>C | CA469792442 | CHAT | c.2155A>C (p.Arg719=) c.*992A>C (n.*992A>C) n.952A>C c.1018A>C (p.Arg340=) c.1801A>C (p.Arg601=) c.1909A>C (p.Arg637=) c.*1886A>C (n.*1886A>C) | |
| 10 | g.49664954A>G | CA376714504 | CHAT | c.2155A>G (p.Arg719Gly) c.*992A>G (n.*992A>G) n.952A>G c.1018A>G (p.Arg340Gly) c.1801A>G (p.Arg601Gly) c.1909A>G (p.Arg637Gly) c.*1886A>G (n.*1886A>G) | |
| 10 | g.49664954A>T | CA376714506 | CHAT | c.2155A>T (p.Arg719Ter) c.*992A>T (n.*992A>T) n.952A>T c.1018A>T (p.Arg340Ter) c.1801A>T (p.Arg601Ter) c.1909A>T (p.Arg637Ter) c.*1886A>T (n.*1886A>T) | |
| 10 | g.49664955G>A | CA376714511 | CHAT | c.2156G>A (p.Arg719Lys) c.*993G>A (n.*993G>A) n.953G>A c.1019G>A (p.Arg340Lys) c.1802G>A (p.Arg601Lys) c.1910G>A (p.Arg637Lys) c.*1887G>A (n.*1887G>A) | |
| 10 | g.49664955G>C | CA376714513 | CHAT | c.2156G>C (p.Arg719Thr) c.*993G>C (n.*993G>C) n.953G>C c.1019G>C (p.Arg340Thr) c.1802G>C (p.Arg601Thr) c.1910G>C (p.Arg637Thr) c.*1887G>C (n.*1887G>C) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664955G= | CA1908838866 | CHAT | c.2156G= (p.Arg719=) c.*993G= (n.*993G=) n.953G= c.1019G= (p.Arg340=) c.1802G= (p.Arg601=) c.1910G= (p.Arg637=) c.*1887G= (n.*1887G=) | |
| 10 | g.49664955G>T | CA376714516 | CHAT | c.2156G>T (p.Arg719Ile) c.*993G>T (n.*993G>T) n.953G>T c.1019G>T (p.Arg340Ile) c.1802G>T (p.Arg601Ile) c.1910G>T (p.Arg637Ile) c.*1887G>T (n.*1887G>T) | |
| 10 | g.49664956A>C | CA376714520 | CHAT | c.2157A>C (p.Arg719Ser) c.*994A>C (n.*994A>C) n.954A>C c.1020A>C (p.Arg340Ser) c.1803A>C (p.Arg601Ser) c.1911A>C (p.Arg637Ser) c.*1888A>C (n.*1888A>C) | |
| 10 | g.49664956A>G | CA469792444 | CHAT | c.2157A>G (p.Arg719=) c.*994A>G (n.*994A>G) n.954A>G c.1020A>G (p.Arg340=) c.1803A>G (p.Arg601=) c.1911A>G (p.Arg637=) c.*1888A>G (n.*1888A>G) | |
| 10 | g.49664956A>T | CA376714523 | CHAT | c.2157A>T (p.Arg719Ser) c.*994A>T (n.*994A>T) n.954A>T c.1020A>T (p.Arg340Ser) c.1803A>T (p.Arg601Ser) c.1911A>T (p.Arg637Ser) c.*1888A>T (n.*1888A>T) | |
| 10 | g.49664957G>A | CA376714528 | CHAT | c.2158G>A (p.Asp720Asn) c.*995G>A (n.*995G>A) n.955G>A c.1021G>A (p.Asp341Asn) c.1804G>A (p.Asp602Asn) c.1912G>A (p.Asp638Asn) c.*1889G>A (n.*1889G>A) | COSMIC COSMIC |
| 10 | g.49664957G>C | CA376714531 | CHAT | c.2158G>C (p.Asp720His) c.*995G>C (n.*995G>C) n.955G>C c.1021G>C (p.Asp341His) c.1804G>C (p.Asp602His) c.1912G>C (p.Asp638His) c.*1889G>C (n.*1889G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664957G= | CA1908838867 | CHAT | c.2158G= (p.Asp720=) c.*995G= (n.*995G=) n.955G= c.1021G= (p.Asp341=) c.1804G= (p.Asp602=) c.1912G= (p.Asp638=) c.*1889G= (n.*1889G=) | |
| 10 | g.49664957G>T | CA376714535 | CHAT | c.2158G>T (p.Asp720Tyr) c.*995G>T (n.*995G>T) n.955G>T c.1021G>T (p.Asp341Tyr) c.1804G>T (p.Asp602Tyr) c.1912G>T (p.Asp638Tyr) c.*1889G>T (n.*1889G>T) | |
| 10 | g.49664958A>C | CA376714540 | CHAT | c.2159A>C (p.Asp720Ala) c.*996A>C (n.*996A>C) n.956A>C c.1022A>C (p.Asp341Ala) c.1805A>C (p.Asp602Ala) c.1913A>C (p.Asp638Ala) c.*1890A>C (n.*1890A>C) | |
| 10 | g.49664958A>G | CA376714542 | CHAT | c.2159A>G (p.Asp720Gly) c.*996A>G (n.*996A>G) n.956A>G c.1022A>G (p.Asp341Gly) c.1805A>G (p.Asp602Gly) c.1913A>G (p.Asp638Gly) c.*1890A>G (n.*1890A>G) | |
| 10 | g.49664958A>T | CA376714544 | CHAT | c.2159A>T (p.Asp720Val) c.*996A>T (n.*996A>T) n.956A>T c.1022A>T (p.Asp341Val) c.1805A>T (p.Asp602Val) c.1913A>T (p.Asp638Val) c.*1890A>T (n.*1890A>T) | |
| 10 | g.49664959C>A | CA376714547 | CHAT | c.2160C>A (p.Asp720Glu) c.*997C>A (n.*997C>A) n.957C>A c.1023C>A (p.Asp341Glu) c.1806C>A (p.Asp602Glu) c.1914C>A (p.Asp638Glu) c.*1891C>A (n.*1891C>A) | |
| 10 | g.49664959C>G | CA376714548 | CHAT | c.2160C>G (p.Asp720Glu) c.*997C>G (n.*997C>G) n.957C>G c.1023C>G (p.Asp341Glu) c.1806C>G (p.Asp602Glu) c.1914C>G (p.Asp638Glu) c.*1891C>G (n.*1891C>G) | |
| 10 | g.49664959C>T | CA469792447 | CHAT | c.2160C>T (p.Asp720=) c.*997C>T (n.*997C>T) n.957C>T c.1023C>T (p.Asp341=) c.1806C>T (p.Asp602=) c.1914C>T (p.Asp638=) c.*1891C>T (n.*1891C>T) | |
| 10 | g.49664960C>A | CA376714558 | CHAT | c.2161C>A (p.Leu721Ile) c.*998C>A (n.*998C>A) n.958C>A c.1024C>A (p.Leu342Ile) c.1807C>A (p.Leu603Ile) c.1915C>A (p.Leu639Ile) c.*1892C>A (n.*1892C>A) | |
| 10 | g.49664960C>G | CA376714553 | CHAT | c.2161C>G (p.Leu721Val) c.*998C>G (n.*998C>G) n.958C>G c.1024C>G (p.Leu342Val) c.1807C>G (p.Leu603Val) c.1915C>G (p.Leu639Val) c.*1892C>G (n.*1892C>G) | |
| 10 | g.49664960C>T | CA376714556 | CHAT | c.2161C>T (p.Leu721Phe) c.*998C>T (n.*998C>T) n.958C>T c.1024C>T (p.Leu342Phe) c.1807C>T (p.Leu603Phe) c.1915C>T (p.Leu639Phe) c.*1892C>T (n.*1892C>T) | gnomAD v4 |
| 10 | g.49664961T>A | CA376714564 | CHAT | c.2162T>A (p.Leu721His) c.*999T>A (n.*999T>A) n.959T>A c.1025T>A (p.Leu342His) c.1808T>A (p.Leu603His) c.1916T>A (p.Leu639His) c.*1893T>A (n.*1893T>A) | |
| 10 | g.49664961T>C | CA376714568 | CHAT | c.2162T>C (p.Leu721Pro) c.*999T>C (n.*999T>C) n.959T>C c.1025T>C (p.Leu342Pro) c.1808T>C (p.Leu603Pro) c.1916T>C (p.Leu639Pro) c.*1893T>C (n.*1893T>C) | |
| 10 | g.49664961T>G | CA376714569 | CHAT | c.2162T>G (p.Leu721Arg) c.*999T>G (n.*999T>G) n.959T>G c.1025T>G (p.Leu342Arg) c.1808T>G (p.Leu603Arg) c.1916T>G (p.Leu639Arg) c.*1893T>G (n.*1893T>G) | |
| 10 | g.49664962C>A | CA469792451 | CHAT | c.2163C>A (p.Leu721=) c.*1000C>A (n.*1000C>A) n.960C>A c.1026C>A (p.Leu342=) c.1809C>A (p.Leu603=) c.1917C>A (p.Leu639=) c.*1894C>A (n.*1894C>A) | |
| 10 | g.49664962C>G | CA469792452 | CHAT | c.2163C>G (p.Leu721=) c.*1000C>G (n.*1000C>G) n.960C>G c.1026C>G (p.Leu342=) c.1809C>G (p.Leu603=) c.1917C>G (p.Leu639=) c.*1894C>G (n.*1894C>G) | |
| 10 | g.49664962C>T | CA469792450 | CHAT | c.2163C>T (p.Leu721=) c.*1000C>T (n.*1000C>T) n.960C>T c.1026C>T (p.Leu342=) c.1809C>T (p.Leu603=) c.1917C>T (p.Leu639=) c.*1894C>T (n.*1894C>T) | gnomAD v4 |
| 10 | g.49664963T>A | CA376714570 | CHAT | c.2164T>A (p.Cys722Ser) c.*1001T>A (n.*1001T>A) n.961T>A c.1027T>A (p.Cys343Ser) c.1810T>A (p.Cys604Ser) c.1918T>A (p.Cys640Ser) c.*1895T>A (n.*1895T>A) | |
| 10 | g.49664963T>C | CA376714571 | CHAT | c.2164T>C (p.Cys722Arg) c.*1001T>C (n.*1001T>C) n.961T>C c.1027T>C (p.Cys343Arg) c.1810T>C (p.Cys604Arg) c.1918T>C (p.Cys640Arg) c.*1895T>C (n.*1895T>C) | COSMIC COSMIC |
| 10 | g.49664963T>G | CA376714573 | CHAT | c.2164T>G (p.Cys722Gly) c.*1001T>G (n.*1001T>G) n.961T>G c.1027T>G (p.Cys343Gly) c.1810T>G (p.Cys604Gly) c.1918T>G (p.Cys640Gly) c.*1895T>G (n.*1895T>G) | |
| 10 | g.49664964G>A | CA376714575 | CHAT | c.2165G>A (p.Cys722Tyr) c.*1002G>A (n.*1002G>A) n.962G>A c.1028G>A (p.Cys343Tyr) c.1811G>A (p.Cys604Tyr) c.1919G>A (p.Cys640Tyr) c.*1896G>A (n.*1896G>A) | |
| 10 | g.49664964G>C | CA376714577 | CHAT | c.2165G>C (p.Cys722Ser) c.*1002G>C (n.*1002G>C) n.962G>C c.1028G>C (p.Cys343Ser) c.1811G>C (p.Cys604Ser) c.1919G>C (p.Cys640Ser) c.*1896G>C (n.*1896G>C) | |
| 10 | g.49664964G>T | CA376714580 | CHAT | c.2165G>T (p.Cys722Phe) c.*1002G>T (n.*1002G>T) n.962G>T c.1028G>T (p.Cys343Phe) c.1811G>T (p.Cys604Phe) c.1919G>T (p.Cys640Phe) c.*1896G>T (n.*1896G>T) | |
| 10 | g.49664965C>A | CA376714583 | CHAT | c.2166C>A (p.Cys722Ter) c.*1003C>A (n.*1003C>A) n.963C>A c.1029C>A (p.Cys343Ter) c.1812C>A (p.Cys604Ter) c.1920C>A (p.Cys640Ter) c.*1897C>A (n.*1897C>A) | gnomAD v4 |
| 10 | g.49664965C= | CA1908838868 | CHAT | c.2166C= (p.Cys722=) c.*1003C= (n.*1003C=) n.963C= c.1029C= (p.Cys343=) c.1812C= (p.Cys604=) c.1920C= (p.Cys640=) c.*1897C= (n.*1897C=) | |
| 10 | g.49664965C>G | CA376714590 | CHAT | c.2166C>G (p.Cys722Trp) c.*1003C>G (n.*1003C>G) n.963C>G c.1029C>G (p.Cys343Trp) c.1812C>G (p.Cys604Trp) c.1920C>G (p.Cys640Trp) c.*1897C>G (n.*1897C>G) | |
| 10 | g.49664965C>T | CA469792456 | CHAT | c.2166C>T (p.Cys722=) c.*1003C>T (n.*1003C>T) n.963C>T c.1029C>T (p.Cys343=) c.1812C>T (p.Cys604=) c.1920C>T (p.Cys640=) c.*1897C>T (n.*1897C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664965_49664966del | CA2609145132 | CHAT | c.2166_2167del (p.Cys722TrpfsTer7) c.*1003_*1004del (n.*1003_*1004del) n.963_964del c.1029_1030del (p.Cys343TrpfsTer7) c.1812_1813del (p.Cys604TrpfsTer7) c.1920_1921del (p.Cys640TrpfsTer7) c.*1897_*1898del (n.*1897_*1898del) | gnomAD v4 |
| 10 | g.49664966A>C | CA376714600 | CHAT | c.2167A>C (p.Ser723Arg) c.*1004A>C (n.*1004A>C) n.964A>C c.1030A>C (p.Ser344Arg) c.1813A>C (p.Ser605Arg) c.1921A>C (p.Ser641Arg) c.*1898A>C (n.*1898A>C) | |
| 10 | g.49664966A>G | CA376714597 | CHAT | c.2167A>G (p.Ser723Gly) c.*1004A>G (n.*1004A>G) n.964A>G c.1030A>G (p.Ser344Gly) c.1813A>G (p.Ser605Gly) c.1921A>G (p.Ser641Gly) c.*1898A>G (n.*1898A>G) | gnomAD v4 |
| 10 | g.49664966A>T | CA376714594 | CHAT | c.2167A>T (p.Ser723Cys) c.*1004A>T (n.*1004A>T) n.964A>T c.1030A>T (p.Ser344Cys) c.1813A>T (p.Ser605Cys) c.1921A>T (p.Ser641Cys) c.*1898A>T (n.*1898A>T) | |
| 10 | g.49664967G>A | CA376714603 | CHAT | c.2168G>A (p.Ser723Asn) c.*1005G>A (n.*1005G>A) n.965G>A c.1031G>A (p.Ser344Asn) c.1814G>A (p.Ser605Asn) c.1922G>A (p.Ser641Asn) c.*1899G>A (n.*1899G>A) | |
| 10 | g.49664967G>C | CA376714605 | CHAT | c.2168G>C (p.Ser723Thr) c.*1005G>C (n.*1005G>C) n.965G>C c.1031G>C (p.Ser344Thr) c.1814G>C (p.Ser605Thr) c.1922G>C (p.Ser641Thr) c.*1899G>C (n.*1899G>C) | |
| 10 | g.49664967G>T | CA376714607 | CHAT | c.2168G>T (p.Ser723Ile) c.*1005G>T (n.*1005G>T) n.965G>T c.1031G>T (p.Ser344Ile) c.1814G>T (p.Ser605Ile) c.1922G>T (p.Ser641Ile) c.*1899G>T (n.*1899G>T) | |
| 10 | g.49664968T>A | CA376714608 | CHAT | c.2169T>A (p.Ser723Arg) c.*1006T>A (n.*1006T>A) n.966T>A c.1032T>A (p.Ser344Arg) c.1815T>A (p.Ser605Arg) c.1923T>A (p.Ser641Arg) c.*1900T>A (n.*1900T>A) | |
| 10 | g.49664968T>C | CA5497723 | CHAT | c.2169T>C (p.Ser723=) c.*1006T>C (n.*1006T>C) n.966T>C c.1032T>C (p.Ser344=) c.1815T>C (p.Ser605=) c.1923T>C (p.Ser641=) c.*1900T>C (n.*1900T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664968T>G | CA376714611 | CHAT | c.2169T>G (p.Ser723Arg) c.*1006T>G (n.*1006T>G) n.966T>G c.1032T>G (p.Ser344Arg) c.1815T>G (p.Ser605Arg) c.1923T>G (p.Ser641Arg) c.*1900T>G (n.*1900T>G) | |
| 10 | g.49664968T= | CA1908838869 | CHAT | c.2169T= (p.Ser723=) c.*1006T= (n.*1006T=) n.966T= c.1032T= (p.Ser344=) c.1815T= (p.Ser605=) c.1923T= (p.Ser641=) c.*1900T= (n.*1900T=) | |
| 10 | g.49664969C>A | CA5497724 | CHAT | c.2170C>A (p.Leu724Met) c.*1007C>A (n.*1007C>A) n.967C>A c.1033C>A (p.Leu345Met) c.1816C>A (p.Leu606Met) c.1924C>A (p.Leu642Met) c.*1901C>A (n.*1901C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664969C= | CA1908838870 | CHAT | c.2170C= (p.Leu724=) c.*1007C= (n.*1007C=) n.967C= c.1033C= (p.Leu345=) c.1816C= (p.Leu606=) c.1924C= (p.Leu642=) c.*1901C= (n.*1901C=) | |
| 10 | g.49664969C>G | CA376714614 | CHAT | c.2170C>G (p.Leu724Val) c.*1007C>G (n.*1007C>G) n.967C>G c.1033C>G (p.Leu345Val) c.1816C>G (p.Leu606Val) c.1924C>G (p.Leu642Val) c.*1901C>G (n.*1901C>G) | |
| 10 | g.49664969C>T | CA469792457 | CHAT | c.2170C>T (p.Leu724=) c.*1007C>T (n.*1007C>T) n.967C>T c.1033C>T (p.Leu345=) c.1816C>T (p.Leu606=) c.1924C>T (p.Leu642=) c.*1901C>T (n.*1901C>T) | |
| 10 | g.49664970T>A | CA376714618 | CHAT | c.2171T>A (p.Leu724Gln) c.*1008T>A (n.*1008T>A) n.968T>A c.1034T>A (p.Leu345Gln) c.1817T>A (p.Leu606Gln) c.1925T>A (p.Leu642Gln) c.*1902T>A (n.*1902T>A) | |
| 10 | g.49664970T>C | CA376714620 | CHAT | c.2171T>C (p.Leu724Pro) c.*1008T>C (n.*1008T>C) n.968T>C c.1034T>C (p.Leu345Pro) c.1817T>C (p.Leu606Pro) c.1925T>C (p.Leu642Pro) c.*1902T>C (n.*1902T>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664970T>G | CA5497725 | CHAT | c.2171T>G (p.Leu724Arg) c.*1008T>G (n.*1008T>G) n.968T>G c.1034T>G (p.Leu345Arg) c.1817T>G (p.Leu606Arg) c.1925T>G (p.Leu642Arg) c.*1902T>G (n.*1902T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664970T= | CA1908838871 | CHAT | c.2171T= (p.Leu724=) c.*1008T= (n.*1008T=) n.968T= c.1034T= (p.Leu345=) c.1817T= (p.Leu606=) c.1925T= (p.Leu642=) c.*1902T= (n.*1902T=) | |
| 10 | g.49664971G>A | CA206624107 | CHAT | c.2172G>A (p.Leu724=) c.*1009G>A (n.*1009G>A) n.969G>A c.1035G>A (p.Leu345=) c.1818G>A (p.Leu606=) c.1926G>A (p.Leu642=) c.*1903G>A (n.*1903G>A) | dbSNP |
| 10 | g.49664971G>C | CA469792461 | CHAT | c.2172G>C (p.Leu724=) c.*1009G>C (n.*1009G>C) n.969G>C c.1035G>C (p.Leu345=) c.1818G>C (p.Leu606=) c.1926G>C (p.Leu642=) c.*1903G>C (n.*1903G>C) | |
| 10 | g.49664971G= | CA1908838872 | CHAT | c.2172G= (p.Leu724=) c.*1009G= (n.*1009G=) n.969G= c.1035G= (p.Leu345=) c.1818G= (p.Leu606=) c.1926G= (p.Leu642=) c.*1903G= (n.*1903G=) | |
| 10 | g.49664971G>T | CA469792462 | CHAT | c.2172G>T (p.Leu724=) c.*1009G>T (n.*1009G>T) n.969G>T c.1035G>T (p.Leu345=) c.1818G>T (p.Leu606=) c.1926G>T (p.Leu642=) c.*1903G>T (n.*1903G>T) | ClinVar |
| 10 | g.49664972C>A | CA376714631 | CHAT | c.2173C>A (p.Leu725Met) c.*1010C>A (n.*1010C>A) n.970C>A c.1036C>A (p.Leu346Met) c.1819C>A (p.Leu607Met) c.1927C>A (p.Leu643Met) c.*1904C>A (n.*1904C>A) | |
| 10 | g.49664972C>G | CA376714644 | CHAT | c.2173C>G (p.Leu725Val) c.*1010C>G (n.*1010C>G) n.970C>G c.1036C>G (p.Leu346Val) c.1819C>G (p.Leu607Val) c.1927C>G (p.Leu643Val) c.*1904C>G (n.*1904C>G) | |
| 10 | g.49664972C>T | CA469792463 | CHAT | c.2173C>T (p.Leu725=) c.*1010C>T (n.*1010C>T) n.970C>T c.1036C>T (p.Leu346=) c.1819C>T (p.Leu607=) c.1927C>T (p.Leu643=) c.*1904C>T (n.*1904C>T) | |
| 10 | g.49664973T>A | CA376714650 | CHAT | c.2174T>A (p.Leu725Gln) c.*1011T>A (n.*1011T>A) n.971T>A c.1037T>A (p.Leu346Gln) c.1820T>A (p.Leu607Gln) c.1928T>A (p.Leu643Gln) c.*1905T>A (n.*1905T>A) | |
| 10 | g.49664973T>C | CA376714656 | CHAT | c.2174T>C (p.Leu725Pro) c.*1011T>C (n.*1011T>C) n.971T>C c.1037T>C (p.Leu346Pro) c.1820T>C (p.Leu607Pro) c.1928T>C (p.Leu643Pro) c.*1905T>C (n.*1905T>C) | gnomAD v4 |
| 10 | g.49664973T>G | CA376714652 | CHAT | c.2174T>G (p.Leu725Arg) c.*1011T>G (n.*1011T>G) n.971T>G c.1037T>G (p.Leu346Arg) c.1820T>G (p.Leu607Arg) c.1928T>G (p.Leu643Arg) c.*1905T>G (n.*1905T>G) | |
| 10 | g.49664974G>A | CA469792469 | CHAT | c.2175G>A (p.Leu725=) c.*1012G>A (n.*1012G>A) n.972G>A c.1038G>A (p.Leu346=) c.1821G>A (p.Leu607=) c.1929G>A (p.Leu643=) c.*1906G>A (n.*1906G>A) | |
| 10 | g.49664974G>C | CA469792468 | CHAT | c.2175G>C (p.Leu725=) c.*1012G>C (n.*1012G>C) n.972G>C c.1038G>C (p.Leu346=) c.1821G>C (p.Leu607=) c.1929G>C (p.Leu643=) c.*1906G>C (n.*1906G>C) | |
| 10 | g.49664974G>T | CA469792467 | CHAT | c.2175G>T (p.Leu725=) c.*1012G>T (n.*1012G>T) n.972G>T c.1038G>T (p.Leu346=) c.1821G>T (p.Leu607=) c.1929G>T (p.Leu643=) c.*1906G>T (n.*1906G>T) | |
| 10 | g.49664975C>A | CA376714658 | CHAT | c.2176C>A (p.Pro726Thr) c.*1013C>A (n.*1013C>A) n.973C>A c.1039C>A (p.Pro347Thr) c.1822C>A (p.Pro608Thr) c.1930C>A (p.Pro644Thr) c.*1907C>A (n.*1907C>A) | |
| 10 | g.49664975C>G | CA376714660 | CHAT | c.2176C>G (p.Pro726Ala) c.*1013C>G (n.*1013C>G) n.973C>G c.1039C>G (p.Pro347Ala) c.1822C>G (p.Pro608Ala) c.1930C>G (p.Pro644Ala) c.*1907C>G (n.*1907C>G) | |
| 10 | g.49664975C>T | CA376714661 | CHAT | c.2176C>T (p.Pro726Ser) c.*1013C>T (n.*1013C>T) n.973C>T c.1039C>T (p.Pro347Ser) c.1822C>T (p.Pro608Ser) c.1930C>T (p.Pro644Ser) c.*1907C>T (n.*1907C>T) | gnomAD v4 |
| 10 | g.49664976C>A | CA376714662 | CHAT | c.2177C>A (p.Pro726Gln) c.*1014C>A (n.*1014C>A) n.974C>A c.1040C>A (p.Pro347Gln) c.1823C>A (p.Pro608Gln) c.1931C>A (p.Pro644Gln) c.*1908C>A (n.*1908C>A) | |
| 10 | g.49664976C= | CA1908838873 | CHAT | c.2177C= (p.Pro726=) c.*1014C= (n.*1014C=) n.974C= c.1040C= (p.Pro347=) c.1823C= (p.Pro608=) c.1931C= (p.Pro644=) c.*1908C= (n.*1908C=) | |
| 10 | g.49664976C>G | CA5497727 | CHAT | c.2177C>G (p.Pro726Arg) c.*1014C>G (n.*1014C>G) n.974C>G c.1040C>G (p.Pro347Arg) c.1823C>G (p.Pro608Arg) c.1931C>G (p.Pro644Arg) c.*1908C>G (n.*1908C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664976C>T | CA5497726 | CHAT | c.2177C>T (p.Pro726Leu) c.*1014C>T (n.*1014C>T) n.974C>T c.1040C>T (p.Pro347Leu) c.1823C>T (p.Pro608Leu) c.1931C>T (p.Pro644Leu) c.*1908C>T (n.*1908C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664977G>A | CA5497728 | CHAT | c.2178G>A (p.Pro726=) c.*1015G>A (n.*1015G>A) n.975G>A c.1041G>A (p.Pro347=) c.1824G>A (p.Pro608=) c.1932G>A (p.Pro644=) c.*1909G>A (n.*1909G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664977G>C | CA469792472 | CHAT | c.2178G>C (p.Pro726=) c.*1015G>C (n.*1015G>C) n.975G>C c.1041G>C (p.Pro347=) c.1824G>C (p.Pro608=) c.1932G>C (p.Pro644=) c.*1909G>C (n.*1909G>C) | |
| 10 | g.49664977G= | CA1908838874 | CHAT | c.2178G= (p.Pro726=) c.*1015G= (n.*1015G=) n.975G= c.1041G= (p.Pro347=) c.1824G= (p.Pro608=) c.1932G= (p.Pro644=) c.*1909G= (n.*1909G=) | |
| 10 | g.49664977G>T | CA469792471 | CHAT | c.2178G>T (p.Pro726=) c.*1015G>T (n.*1015G>T) n.975G>T c.1041G>T (p.Pro347=) c.1824G>T (p.Pro608=) c.1932G>T (p.Pro644=) c.*1909G>T (n.*1909G>T) | |
| 10 | g.49664978C>A | CA376714671 | CHAT | c.2179C>A (p.Pro727Thr) c.*1016C>A (n.*1016C>A) n.976C>A c.1042C>A (p.Pro348Thr) c.1825C>A (p.Pro609Thr) c.1933C>A (p.Pro645Thr) c.*1910C>A (n.*1910C>A) | |
| 10 | g.49664978C>G | CA376714675 | CHAT | c.2179C>G (p.Pro727Ala) c.*1016C>G (n.*1016C>G) n.976C>G c.1042C>G (p.Pro348Ala) c.1825C>G (p.Pro609Ala) c.1933C>G (p.Pro645Ala) c.*1910C>G (n.*1910C>G) | |
| 10 | g.49664978C>T | CA376714678 | CHAT | c.2179C>T (p.Pro727Ser) c.*1016C>T (n.*1016C>T) n.976C>T c.1042C>T (p.Pro348Ser) c.1825C>T (p.Pro609Ser) c.1933C>T (p.Pro645Ser) c.*1910C>T (n.*1910C>T) | |
| 10 | g.49664979C>A | CA376714681 | CHAT | c.2180C>A (p.Pro727His) c.*1017C>A (n.*1017C>A) n.977C>A c.1043C>A (p.Pro348His) c.1826C>A (p.Pro609His) c.1934C>A (p.Pro645His) c.*1911C>A (n.*1911C>A) | ClinVar dbSNP |
| 10 | g.49664979C= | CA1908838875 | CHAT | c.2180C= (p.Pro727=) c.*1017C= (n.*1017C=) n.977C= c.1043C= (p.Pro348=) c.1826C= (p.Pro609=) c.1934C= (p.Pro645=) c.*1911C= (n.*1911C=) | |
| 10 | g.49664979C>G | CA376714686 | CHAT | c.2180C>G (p.Pro727Arg) c.*1017C>G (n.*1017C>G) n.977C>G c.1043C>G (p.Pro348Arg) c.1826C>G (p.Pro609Arg) c.1934C>G (p.Pro645Arg) c.*1911C>G (n.*1911C>G) | |
| 10 | g.49664979C>T | CA376714684 | CHAT | c.2180C>T (p.Pro727Leu) c.*1017C>T (n.*1017C>T) n.977C>T c.1043C>T (p.Pro348Leu) c.1826C>T (p.Pro609Leu) c.1934C>T (p.Pro645Leu) c.*1911C>T (n.*1911C>T) | |
| 10 | g.49664980T>A | CA469792478 | CHAT | c.2181T>A (p.Pro727=) c.*1018T>A (n.*1018T>A) n.978T>A c.1044T>A (p.Pro348=) c.1827T>A (p.Pro609=) c.1935T>A (p.Pro645=) c.*1912T>A (n.*1912T>A) | |
| 10 | g.49664980T>C | CA469792477 | CHAT | c.2181T>C (p.Pro727=) c.*1018T>C (n.*1018T>C) n.978T>C c.1044T>C (p.Pro348=) c.1827T>C (p.Pro609=) c.1935T>C (p.Pro645=) c.*1912T>C (n.*1912T>C) | |
| 10 | g.49664980T>G | CA469792476 | CHAT | c.2181T>G (p.Pro727=) c.*1018T>G (n.*1018T>G) n.978T>G c.1044T>G (p.Pro348=) c.1827T>G (p.Pro609=) c.1935T>G (p.Pro645=) c.*1912T>G (n.*1912T>G) |