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.49664780C>A | CA376713103 | CHAT | c.1981C>A (p.Pro661Thr) c.*818C>A (n.*818C>A) n.778C>A c.844C>A (p.Pro282Thr) c.1627C>A (p.Pro543Thr) c.1735C>A (p.Pro579Thr) c.*1712C>A (n.*1712C>A) | |
| 10 | g.49664780C= | CA1908838805 | CHAT | c.1981C= (p.Pro661=) c.*818C= (n.*818C=) n.778C= c.844C= (p.Pro282=) c.1627C= (p.Pro543=) c.1735C= (p.Pro579=) c.*1712C= (n.*1712C=) | |
| 10 | g.49664780C>G | CA376713107 | CHAT | c.1981C>G (p.Pro661Ala) c.*818C>G (n.*818C>G) n.778C>G c.844C>G (p.Pro282Ala) c.1627C>G (p.Pro543Ala) c.1735C>G (p.Pro579Ala) c.*1712C>G (n.*1712C>G) | |
| 10 | g.49664780C>T | CA376713113 | CHAT | c.1981C>T (p.Pro661Ser) c.*818C>T (n.*818C>T) n.778C>T c.844C>T (p.Pro282Ser) c.1627C>T (p.Pro543Ser) c.1735C>T (p.Pro579Ser) c.*1712C>T (n.*1712C>T) | dbSNP |
| 10 | g.49664781C>A | CA376713116 | CHAT | c.1982C>A (p.Pro661His) c.*819C>A (n.*819C>A) n.779C>A c.845C>A (p.Pro282His) c.1628C>A (p.Pro543His) c.1736C>A (p.Pro579His) c.*1713C>A (n.*1713C>A) | gnomAD v4 |
| 10 | g.49664781C>G | CA376713118 | CHAT | c.1982C>G (p.Pro661Arg) c.*819C>G (n.*819C>G) n.779C>G c.845C>G (p.Pro282Arg) c.1628C>G (p.Pro543Arg) c.1736C>G (p.Pro579Arg) c.*1713C>G (n.*1713C>G) | |
| 10 | g.49664781C>T | CA376713120 | CHAT | c.1982C>T (p.Pro661Leu) c.*819C>T (n.*819C>T) n.779C>T c.845C>T (p.Pro282Leu) c.1628C>T (p.Pro543Leu) c.1736C>T (p.Pro579Leu) c.*1713C>T (n.*1713C>T) | |
| 10 | g.49664782C>A | CA469606006 | CHAT | c.1983C>A (p.Pro661=) c.*820C>A (n.*820C>A) n.780C>A c.846C>A (p.Pro282=) c.1629C>A (p.Pro543=) c.1737C>A (p.Pro579=) c.*1714C>A (n.*1714C>A) | |
| 10 | g.49664782C>G | CA469606005 | CHAT | c.1983C>G (p.Pro661=) c.*820C>G (n.*820C>G) n.780C>G c.846C>G (p.Pro282=) c.1629C>G (p.Pro543=) c.1737C>G (p.Pro579=) c.*1714C>G (n.*1714C>G) | |
| 10 | g.49664782C>T | CA469606004 | CHAT | c.1983C>T (p.Pro661=) c.*820C>T (n.*820C>T) n.780C>T c.846C>T (p.Pro282=) c.1629C>T (p.Pro543=) c.1737C>T (p.Pro579=) c.*1714C>T (n.*1714C>T) | |
| 10 | g.49664783A>C | CA376713129 | CHAT | c.1984A>C (p.Thr662Pro) c.*821A>C (n.*821A>C) n.781A>C c.847A>C (p.Thr283Pro) c.1630A>C (p.Thr544Pro) c.1738A>C (p.Thr580Pro) c.*1715A>C (n.*1715A>C) | |
| 10 | g.49664783A>G | CA376713125 | CHAT | c.1984A>G (p.Thr662Ala) c.*821A>G (n.*821A>G) n.781A>G c.847A>G (p.Thr283Ala) c.1630A>G (p.Thr544Ala) c.1738A>G (p.Thr580Ala) c.*1715A>G (n.*1715A>G) | |
| 10 | g.49664783A>T | CA376713124 | CHAT | c.1984A>T (p.Thr662Ser) c.*821A>T (n.*821A>T) n.781A>T c.847A>T (p.Thr283Ser) c.1630A>T (p.Thr544Ser) c.1738A>T (p.Thr580Ser) c.*1715A>T (n.*1715A>T) | |
| 10 | g.49664784C>A | CA376713132 | CHAT | c.1985C>A (p.Thr662Lys) c.*822C>A (n.*822C>A) n.782C>A c.848C>A (p.Thr283Lys) c.1631C>A (p.Thr544Lys) c.1739C>A (p.Thr580Lys) c.*1716C>A (n.*1716C>A) | |
| 10 | g.49664784C>G | CA376713155 | CHAT | c.1985C>G (p.Thr662Arg) c.*822C>G (n.*822C>G) n.782C>G c.848C>G (p.Thr283Arg) c.1631C>G (p.Thr544Arg) c.1739C>G (p.Thr580Arg) c.*1716C>G (n.*1716C>G) | |
| 10 | g.49664784C>T | CA376713157 | CHAT | c.1985C>T (p.Thr662Ile) c.*822C>T (n.*822C>T) n.782C>T c.848C>T (p.Thr283Ile) c.1631C>T (p.Thr544Ile) c.1739C>T (p.Thr580Ile) c.*1716C>T (n.*1716C>T) | |
| 10 | g.49664785A>C | CA469606012 | CHAT | c.1986A>C (p.Thr662=) c.*823A>C (n.*823A>C) n.783A>C c.849A>C (p.Thr283=) c.1632A>C (p.Thr544=) c.1740A>C (p.Thr580=) c.*1717A>C (n.*1717A>C) | |
| 10 | g.49664785A>G | CA469606011 | CHAT | c.1986A>G (p.Thr662=) c.*823A>G (n.*823A>G) n.783A>G c.849A>G (p.Thr283=) c.1632A>G (p.Thr544=) c.1740A>G (p.Thr580=) c.*1717A>G (n.*1717A>G) | |
| 10 | g.49664785A>T | CA469606010 | CHAT | c.1986A>T (p.Thr662=) c.*823A>T (n.*823A>T) n.783A>T c.849A>T (p.Thr283=) c.1632A>T (p.Thr544=) c.1740A>T (p.Thr580=) c.*1717A>T (n.*1717A>T) | |
| 10 | g.49664786A>C | CA376713160 | CHAT | c.1987A>C (p.Thr663Pro) c.*824A>C (n.*824A>C) n.784A>C c.850A>C (p.Thr284Pro) c.1633A>C (p.Thr545Pro) c.1741A>C (p.Thr581Pro) c.*1718A>C (n.*1718A>C) | |
| 10 | g.49664786A>G | CA376713161 | CHAT | c.1987A>G (p.Thr663Ala) c.*824A>G (n.*824A>G) n.784A>G c.850A>G (p.Thr284Ala) c.1633A>G (p.Thr545Ala) c.1741A>G (p.Thr581Ala) c.*1718A>G (n.*1718A>G) | |
| 10 | g.49664786A>T | CA376713163 | CHAT | c.1987A>T (p.Thr663Ser) c.*824A>T (n.*824A>T) n.784A>T c.850A>T (p.Thr284Ser) c.1633A>T (p.Thr545Ser) c.1741A>T (p.Thr581Ser) c.*1718A>T (n.*1718A>T) | |
| 10 | g.49664787C>A | CA376713168 | CHAT | c.1988C>A (p.Thr663Asn) c.*825C>A (n.*825C>A) n.785C>A c.851C>A (p.Thr284Asn) c.1634C>A (p.Thr545Asn) c.1742C>A (p.Thr581Asn) c.*1719C>A (n.*1719C>A) | |
| 10 | g.49664787C>G | CA376713170 | CHAT | c.1988C>G (p.Thr663Ser) c.*825C>G (n.*825C>G) n.785C>G c.851C>G (p.Thr284Ser) c.1634C>G (p.Thr545Ser) c.1742C>G (p.Thr581Ser) c.*1719C>G (n.*1719C>G) | gnomAD v4 |
| 10 | g.49664787C>T | CA376713176 | CHAT | c.1988C>T (p.Thr663Ile) c.*825C>T (n.*825C>T) n.785C>T c.851C>T (p.Thr284Ile) c.1634C>T (p.Thr545Ile) c.1742C>T (p.Thr581Ile) c.*1719C>T (n.*1719C>T) | |
| 10 | g.49664788C>A | CA469606015 | CHAT | c.1989C>A (p.Thr663=) c.*826C>A (n.*826C>A) n.786C>A c.852C>A (p.Thr284=) c.1635C>A (p.Thr545=) c.1743C>A (p.Thr581=) c.*1720C>A (n.*1720C>A) | |
| 10 | g.49664788C>G | CA469606014 | CHAT | c.1989C>G (p.Thr663=) c.*826C>G (n.*826C>G) n.786C>G c.852C>G (p.Thr284=) c.1635C>G (p.Thr545=) c.1743C>G (p.Thr581=) c.*1720C>G (n.*1720C>G) | |
| 10 | g.49664788C>T | CA469606013 | CHAT | c.1989C>T (p.Thr663=) c.*826C>T (n.*826C>T) n.786C>T c.852C>T (p.Thr284=) c.1635C>T (p.Thr545=) c.1743C>T (p.Thr581=) c.*1720C>T (n.*1720C>T) | |
| 10 | g.49664789A>C | CA376713179 | CHAT | c.1990A>C (p.Thr664Pro) c.*827A>C (n.*827A>C) n.787A>C c.853A>C (p.Thr285Pro) c.1636A>C (p.Thr546Pro) c.1744A>C (p.Thr582Pro) c.*1721A>C (n.*1721A>C) | |
| 10 | g.49664789A>G | CA376713182 | CHAT | c.1990A>G (p.Thr664Ala) c.*827A>G (n.*827A>G) n.787A>G c.853A>G (p.Thr285Ala) c.1636A>G (p.Thr546Ala) c.1744A>G (p.Thr582Ala) c.*1721A>G (n.*1721A>G) | |
| 10 | g.49664789A>T | CA376713184 | CHAT | c.1990A>T (p.Thr664Ser) c.*827A>T (n.*827A>T) n.787A>T c.853A>T (p.Thr285Ser) c.1636A>T (p.Thr546Ser) c.1744A>T (p.Thr582Ser) c.*1721A>T (n.*1721A>T) | |
| 10 | g.49664790C>A | CA206624037 | CHAT | c.1991C>A (p.Thr664Lys) c.*828C>A (n.*828C>A) n.788C>A c.854C>A (p.Thr285Lys) c.1637C>A (p.Thr546Lys) c.1745C>A (p.Thr582Lys) c.*1722C>A (n.*1722C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664790C= | CA1908838806 | CHAT | c.1991C= (p.Thr664=) c.*828C= (n.*828C=) n.788C= c.854C= (p.Thr285=) c.1637C= (p.Thr546=) c.1745C= (p.Thr582=) c.*1722C= (n.*1722C=) | |
| 10 | g.49664790C>G | CA376713191 | CHAT | c.1991C>G (p.Thr664Arg) c.*828C>G (n.*828C>G) n.788C>G c.854C>G (p.Thr285Arg) c.1637C>G (p.Thr546Arg) c.1745C>G (p.Thr582Arg) c.*1722C>G (n.*1722C>G) | |
| 10 | g.49664790C>T | CA206624040 | CHAT | c.1991C>T (p.Thr664Met) c.*828C>T (n.*828C>T) n.788C>T c.854C>T (p.Thr285Met) c.1637C>T (p.Thr546Met) c.1745C>T (p.Thr582Met) c.*1722C>T (n.*1722C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664791G>A | CA5497706 | CHAT | c.1992G>A (p.Thr664=) c.*829G>A (n.*829G>A) n.789G>A c.855G>A (p.Thr285=) c.1638G>A (p.Thr546=) c.1746G>A (p.Thr582=) c.*1723G>A (n.*1723G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664791G>C | CA469606017 | CHAT | c.1992G>C (p.Thr664=) c.*829G>C (n.*829G>C) n.789G>C c.855G>C (p.Thr285=) c.1638G>C (p.Thr546=) c.1746G>C (p.Thr582=) c.*1723G>C (n.*1723G>C) | |
| 10 | g.49664791G= | CA1908838807 | CHAT | c.1992G= (p.Thr664=) c.*829G= (n.*829G=) n.789G= c.855G= (p.Thr285=) c.1638G= (p.Thr546=) c.1746G= (p.Thr582=) c.*1723G= (n.*1723G=) | |
| 10 | g.49664791G>T | CA469606016 | CHAT | c.1992G>T (p.Thr664=) c.*829G>T (n.*829G>T) n.789G>T c.855G>T (p.Thr285=) c.1638G>T (p.Thr546=) c.1746G>T (p.Thr582=) c.*1723G>T (n.*1723G>T) | |
| 10 | g.49664792G>A | CA376713198 | CHAT | c.1993G>A (p.Glu665Lys) c.*830G>A (n.*830G>A) n.790G>A c.856G>A (p.Glu286Lys) c.1639G>A (p.Glu547Lys) c.1747G>A (p.Glu583Lys) c.*1724G>A (n.*1724G>A) | gnomAD v4 |
| 10 | g.49664792G>C | CA376713199 | CHAT | c.1993G>C (p.Glu665Gln) c.*830G>C (n.*830G>C) n.790G>C c.856G>C (p.Glu286Gln) c.1639G>C (p.Glu547Gln) c.1747G>C (p.Glu583Gln) c.*1724G>C (n.*1724G>C) | |
| 10 | g.49664792G>T | CA376713203 | CHAT | c.1993G>T (p.Glu665Ter) c.*830G>T (n.*830G>T) n.790G>T c.856G>T (p.Glu286Ter) c.1639G>T (p.Glu547Ter) c.1747G>T (p.Glu583Ter) c.*1724G>T (n.*1724G>T) | |
| 10 | g.49664793A>C | CA376713207 | CHAT | c.1994A>C (p.Glu665Ala) c.*831A>C (n.*831A>C) n.791A>C c.857A>C (p.Glu286Ala) c.1640A>C (p.Glu547Ala) c.1748A>C (p.Glu583Ala) c.*1725A>C (n.*1725A>C) | |
| 10 | g.49664793A>G | CA376713210 | CHAT | c.1994A>G (p.Glu665Gly) c.*831A>G (n.*831A>G) n.791A>G c.857A>G (p.Glu286Gly) c.1640A>G (p.Glu547Gly) c.1748A>G (p.Glu583Gly) c.*1725A>G (n.*1725A>G) | |
| 10 | g.49664793A>T | CA376713213 | CHAT | c.1994A>T (p.Glu665Val) c.*831A>T (n.*831A>T) n.791A>T c.857A>T (p.Glu286Val) c.1640A>T (p.Glu547Val) c.1748A>T (p.Glu583Val) c.*1725A>T (n.*1725A>T) | |
| 10 | g.49664794G>A | CA5497708 | CHAT | c.1995G>A (p.Glu665=) c.*832G>A (n.*832G>A) n.792G>A c.858G>A (p.Glu286=) c.1641G>A (p.Glu547=) c.1749G>A (p.Glu583=) c.*1726G>A (n.*1726G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664794G>C | CA376713222 | CHAT | c.1995G>C (p.Glu665Asp) c.*832G>C (n.*832G>C) n.792G>C c.858G>C (p.Glu286Asp) c.1641G>C (p.Glu547Asp) c.1749G>C (p.Glu583Asp) c.*1726G>C (n.*1726G>C) | |
| 10 | g.49664794G= | CA1908838808 | CHAT | c.1995G= (p.Glu665=) c.*832G= (n.*832G=) n.792G= c.858G= (p.Glu286=) c.1641G= (p.Glu547=) c.1749G= (p.Glu583=) c.*1726G= (n.*1726G=) | |
| 10 | g.49664794G>T | CA5497707 | CHAT | c.1995G>T (p.Glu665Asp) c.*832G>T (n.*832G>T) n.792G>T c.858G>T (p.Glu286Asp) c.1641G>T (p.Glu547Asp) c.1749G>T (p.Glu583Asp) c.*1726G>T (n.*1726G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664795A>C | CA376713223 | CHAT | c.1996A>C (p.Met666Leu) c.*833A>C (n.*833A>C) n.793A>C c.859A>C (p.Met287Leu) c.1642A>C (p.Met548Leu) c.1750A>C (p.Met584Leu) c.*1727A>C (n.*1727A>C) | |
| 10 | g.49664795A>G | CA376713224 | CHAT | c.1996A>G (p.Met666Val) c.*833A>G (n.*833A>G) n.793A>G c.859A>G (p.Met287Val) c.1642A>G (p.Met548Val) c.1750A>G (p.Met584Val) c.*1727A>G (n.*1727A>G) | gnomAD v4 |
| 10 | g.49664795A>T | CA376713225 | CHAT | c.1996A>T (p.Met666Leu) c.*833A>T (n.*833A>T) n.793A>T c.859A>T (p.Met287Leu) c.1642A>T (p.Met548Leu) c.1750A>T (p.Met584Leu) c.*1727A>T (n.*1727A>T) | |
| 10 | g.49664796T>A | CA376713234 | CHAT | c.1997T>A (p.Met666Lys) c.*834T>A (n.*834T>A) n.794T>A c.860T>A (p.Met287Lys) c.1643T>A (p.Met548Lys) c.1751T>A (p.Met584Lys) c.*1728T>A (n.*1728T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664796T>C | CA376713231 | CHAT | c.1997T>C (p.Met666Thr) c.*834T>C (n.*834T>C) n.794T>C c.860T>C (p.Met287Thr) c.1643T>C (p.Met548Thr) c.1751T>C (p.Met584Thr) c.*1728T>C (n.*1728T>C) | ClinVar dbSNP |
| 10 | g.49664796T>G | CA376713228 | CHAT | c.1997T>G (p.Met666Arg) c.*834T>G (n.*834T>G) n.794T>G c.860T>G (p.Met287Arg) c.1643T>G (p.Met548Arg) c.1751T>G (p.Met584Arg) c.*1728T>G (n.*1728T>G) | |
| 10 | g.49664796T= | CA1908838809 | CHAT | c.1997T= (p.Met666=) c.*834T= (n.*834T=) n.794T= c.860T= (p.Met287=) c.1643T= (p.Met548=) c.1751T= (p.Met584=) c.*1728T= (n.*1728T=) | |
| 10 | g.49664797G>A | CA376713242 | CHAT | c.1998G>A (p.Met666Ile) c.*835G>A (n.*835G>A) n.795G>A c.861G>A (p.Met287Ile) c.1644G>A (p.Met548Ile) c.1752G>A (p.Met584Ile) c.*1729G>A (n.*1729G>A) | |
| 10 | g.49664797G>C | CA376713238 | CHAT | c.1998G>C (p.Met666Ile) c.*835G>C (n.*835G>C) n.795G>C c.861G>C (p.Met287Ile) c.1644G>C (p.Met548Ile) c.1752G>C (p.Met584Ile) c.*1729G>C (n.*1729G>C) | |
| 10 | g.49664797G>T | CA376713245 | CHAT | c.1998G>T (p.Met666Ile) c.*835G>T (n.*835G>T) n.795G>T c.861G>T (p.Met287Ile) c.1644G>T (p.Met548Ile) c.1752G>T (p.Met584Ile) c.*1729G>T (n.*1729G>T) | |
| 10 | g.49664798T>A | CA376713248 | CHAT | c.1999T>A (p.Phe667Ile) c.*836T>A (n.*836T>A) n.796T>A c.862T>A (p.Phe288Ile) c.1645T>A (p.Phe549Ile) c.1753T>A (p.Phe585Ile) c.*1730T>A (n.*1730T>A) | |
| 10 | g.49664798T>C | CA376713249 | CHAT | c.1999T>C (p.Phe667Leu) c.*836T>C (n.*836T>C) n.796T>C c.862T>C (p.Phe288Leu) c.1645T>C (p.Phe549Leu) c.1753T>C (p.Phe585Leu) c.*1730T>C (n.*1730T>C) | |
| 10 | g.49664798T>G | CA376713251 | CHAT | c.1999T>G (p.Phe667Val) c.*836T>G (n.*836T>G) n.796T>G c.862T>G (p.Phe288Val) c.1645T>G (p.Phe549Val) c.1753T>G (p.Phe585Val) c.*1730T>G (n.*1730T>G) | |
| 10 | g.49664799T>A | CA376713253 | CHAT | c.2000T>A (p.Phe667Tyr) c.*837T>A (n.*837T>A) n.797T>A c.863T>A (p.Phe288Tyr) c.1646T>A (p.Phe549Tyr) c.1754T>A (p.Phe585Tyr) c.*1731T>A (n.*1731T>A) | |
| 10 | g.49664799T>C | CA376713255 | CHAT | c.2000T>C (p.Phe667Ser) c.*837T>C (n.*837T>C) n.797T>C c.863T>C (p.Phe288Ser) c.1646T>C (p.Phe549Ser) c.1754T>C (p.Phe585Ser) c.*1731T>C (n.*1731T>C) | gnomAD v4 |
| 10 | g.49664799T>G | CA376713256 | CHAT | c.2000T>G (p.Phe667Cys) c.*837T>G (n.*837T>G) n.797T>G c.863T>G (p.Phe288Cys) c.1646T>G (p.Phe549Cys) c.1754T>G (p.Phe585Cys) c.*1731T>G (n.*1731T>G) | |
| 10 | g.49664800C>A | CA376713260 | CHAT | c.2001C>A (p.Phe667Leu) c.*838C>A (n.*838C>A) n.798C>A c.864C>A (p.Phe288Leu) c.1647C>A (p.Phe549Leu) c.1755C>A (p.Phe585Leu) c.*1732C>A (n.*1732C>A) | |
| 10 | g.49664800C>G | CA376713263 | CHAT | c.2001C>G (p.Phe667Leu) c.*838C>G (n.*838C>G) n.798C>G c.864C>G (p.Phe288Leu) c.1647C>G (p.Phe549Leu) c.1755C>G (p.Phe585Leu) c.*1732C>G (n.*1732C>G) | |
| 10 | g.49664800C>T | CA469792254 | CHAT | c.2001C>T (p.Phe667=) c.*838C>T (n.*838C>T) n.798C>T c.864C>T (p.Phe288=) c.1647C>T (p.Phe549=) c.1755C>T (p.Phe585=) c.*1732C>T (n.*1732C>T) | |
| 10 | g.49664801T>A | CA376713265 | CHAT | c.2002T>A (p.Cys668Ser) c.*839T>A (n.*839T>A) n.799T>A c.865T>A (p.Cys289Ser) c.1648T>A (p.Cys550Ser) c.1756T>A (p.Cys586Ser) c.*1733T>A (n.*1733T>A) | |
| 10 | g.49664801T>C | CA376713268 | CHAT | c.2002T>C (p.Cys668Arg) c.*839T>C (n.*839T>C) n.799T>C c.865T>C (p.Cys289Arg) c.1648T>C (p.Cys550Arg) c.1756T>C (p.Cys586Arg) c.*1733T>C (n.*1733T>C) | |
| 10 | g.49664801T>G | CA376713270 | CHAT | c.2002T>G (p.Cys668Gly) c.*839T>G (n.*839T>G) n.799T>G c.865T>G (p.Cys289Gly) c.1648T>G (p.Cys550Gly) c.1756T>G (p.Cys586Gly) c.*1733T>G (n.*1733T>G) | |
| 10 | g.49664802G>A | CA5497709 | CHAT | c.2003G>A (p.Cys668Tyr) c.*840G>A (n.*840G>A) n.800G>A c.866G>A (p.Cys289Tyr) c.1649G>A (p.Cys550Tyr) c.1757G>A (p.Cys586Tyr) c.*1734G>A (n.*1734G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664802G>C | CA376713273 | CHAT | c.2003G>C (p.Cys668Ser) c.*840G>C (n.*840G>C) n.800G>C c.866G>C (p.Cys289Ser) c.1649G>C (p.Cys550Ser) c.1757G>C (p.Cys586Ser) c.*1734G>C (n.*1734G>C) | |
| 10 | g.49664802G= | CA1908838810 | CHAT | c.2003G= (p.Cys668=) c.*840G= (n.*840G=) n.800G= c.866G= (p.Cys289=) c.1649G= (p.Cys550=) c.1757G= (p.Cys586=) c.*1734G= (n.*1734G=) | |
| 10 | g.49664802G>T | CA376713274 | CHAT | c.2003G>T (p.Cys668Phe) c.*840G>T (n.*840G>T) n.800G>T c.866G>T (p.Cys289Phe) c.1649G>T (p.Cys550Phe) c.1757G>T (p.Cys586Phe) c.*1734G>T (n.*1734G>T) | |
| 10 | g.49664803C>A | CA376713277 | CHAT | c.2004C>A (p.Cys668Ter) c.*841C>A (n.*841C>A) n.801C>A c.867C>A (p.Cys289Ter) c.1650C>A (p.Cys550Ter) c.1758C>A (p.Cys586Ter) c.*1735C>A (n.*1735C>A) | |
| 10 | g.49664803C= | CA1908838811 | CHAT | c.2004C= (p.Cys668=) c.*841C= (n.*841C=) n.801C= c.867C= (p.Cys289=) c.1650C= (p.Cys550=) c.1758C= (p.Cys586=) c.*1735C= (n.*1735C=) | |
| 10 | g.49664803C>G | CA376713279 | CHAT | c.2004C>G (p.Cys668Trp) c.*841C>G (n.*841C>G) n.801C>G c.867C>G (p.Cys289Trp) c.1650C>G (p.Cys550Trp) c.1758C>G (p.Cys586Trp) c.*1735C>G (n.*1735C>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664803C>T | CA469792255 | CHAT | c.2004C>T (p.Cys668=) c.*841C>T (n.*841C>T) n.801C>T c.867C>T (p.Cys289=) c.1650C>T (p.Cys550=) c.1758C>T (p.Cys586=) c.*1735C>T (n.*1735C>T) | |
| 10 | g.49664804T>A | CA376713282 | CHAT | c.2005T>A (p.Cys669Ser) c.*842T>A (n.*842T>A) n.802T>A c.868T>A (p.Cys290Ser) c.1651T>A (p.Cys551Ser) c.1759T>A (p.Cys587Ser) c.*1736T>A (n.*1736T>A) | COSMIC COSMIC |
| 10 | g.49664804T>C | CA376713284 | CHAT | c.2005T>C (p.Cys669Arg) c.*842T>C (n.*842T>C) n.802T>C c.868T>C (p.Cys290Arg) c.1651T>C (p.Cys551Arg) c.1759T>C (p.Cys587Arg) c.*1736T>C (n.*1736T>C) | |
| 10 | g.49664804T>G | CA376713288 | CHAT | c.2005T>G (p.Cys669Gly) c.*842T>G (n.*842T>G) n.802T>G c.868T>G (p.Cys290Gly) c.1651T>G (p.Cys551Gly) c.1759T>G (p.Cys587Gly) c.*1736T>G (n.*1736T>G) | |
| 10 | g.49664805G>A | CA376713291 | CHAT | c.2006G>A (p.Cys669Tyr) c.*843G>A (n.*843G>A) n.803G>A c.869G>A (p.Cys290Tyr) c.1652G>A (p.Cys551Tyr) c.1760G>A (p.Cys587Tyr) c.*1737G>A (n.*1737G>A) | |
| 10 | g.49664805G>C | CA376713292 | CHAT | c.2006G>C (p.Cys669Ser) c.*843G>C (n.*843G>C) n.803G>C c.869G>C (p.Cys290Ser) c.1652G>C (p.Cys551Ser) c.1760G>C (p.Cys587Ser) c.*1737G>C (n.*1737G>C) | |
| 10 | g.49664805G>T | CA376713296 | CHAT | c.2006G>T (p.Cys669Phe) c.*843G>T (n.*843G>T) n.803G>T c.869G>T (p.Cys290Phe) c.1652G>T (p.Cys551Phe) c.1760G>T (p.Cys587Phe) c.*1737G>T (n.*1737G>T) | |
| 10 | g.49664806C>A | CA376713299 | CHAT | c.2007C>A (p.Cys669Ter) c.*844C>A (n.*844C>A) n.804C>A c.870C>A (p.Cys290Ter) c.1653C>A (p.Cys551Ter) c.1761C>A (p.Cys587Ter) c.*1738C>A (n.*1738C>A) | |
| 10 | g.49664806C>G | CA376713306 | CHAT | c.2007C>G (p.Cys669Trp) c.*844C>G (n.*844C>G) n.804C>G c.870C>G (p.Cys290Trp) c.1653C>G (p.Cys551Trp) c.1761C>G (p.Cys587Trp) c.*1738C>G (n.*1738C>G) | |
| 10 | g.49664806C>T | CA469792256 | CHAT | c.2007C>T (p.Cys669=) c.*844C>T (n.*844C>T) n.804C>T c.870C>T (p.Cys290=) c.1653C>T (p.Cys551=) c.1761C>T (p.Cys587=) c.*1738C>T (n.*1738C>T) | gnomAD v4 |
| 10 | g.49664807T>A | CA376713310 | CHAT | c.2008T>A (p.Tyr670Asn) c.*845T>A (n.*845T>A) n.805T>A c.871T>A (p.Tyr291Asn) c.1654T>A (p.Tyr552Asn) c.1762T>A (p.Tyr588Asn) c.*1739T>A (n.*1739T>A) | |
| 10 | g.49664807T>C | CA376713313 | CHAT | c.2008T>C (p.Tyr670His) c.*845T>C (n.*845T>C) n.805T>C c.871T>C (p.Tyr291His) c.1654T>C (p.Tyr552His) c.1762T>C (p.Tyr588His) c.*1739T>C (n.*1739T>C) | |
| 10 | g.49664807T>G | CA376713315 | CHAT | c.2008T>G (p.Tyr670Asp) c.*845T>G (n.*845T>G) n.805T>G c.871T>G (p.Tyr291Asp) c.1654T>G (p.Tyr552Asp) c.1762T>G (p.Tyr588Asp) c.*1739T>G (n.*1739T>G) | |
| 10 | g.49664808A>C | CA376713320 | CHAT | c.2009A>C (p.Tyr670Ser) c.*846A>C (n.*846A>C) n.806A>C c.872A>C (p.Tyr291Ser) c.1655A>C (p.Tyr552Ser) c.1763A>C (p.Tyr588Ser) c.*1740A>C (n.*1740A>C) | |
| 10 | g.49664808A>G | CA376713319 | CHAT | c.2009A>G (p.Tyr670Cys) c.*846A>G (n.*846A>G) n.806A>G c.872A>G (p.Tyr291Cys) c.1655A>G (p.Tyr552Cys) c.1763A>G (p.Tyr588Cys) c.*1740A>G (n.*1740A>G) | |
| 10 | g.49664808A>T | CA376713317 | CHAT | c.2009A>T (p.Tyr670Phe) c.*846A>T (n.*846A>T) n.806A>T c.872A>T (p.Tyr291Phe) c.1655A>T (p.Tyr552Phe) c.1763A>T (p.Tyr588Phe) c.*1740A>T (n.*1740A>T) | |
| 10 | g.49664809T>A | CA376713324 | CHAT | c.2010T>A (p.Tyr670Ter) c.*847T>A (n.*847T>A) n.807T>A c.873T>A (p.Tyr291Ter) c.1656T>A (p.Tyr552Ter) c.1764T>A (p.Tyr588Ter) c.*1741T>A (n.*1741T>A) | |
| 10 | g.49664809T>C | CA469792257 | CHAT | c.2010T>C (p.Tyr670=) c.*847T>C (n.*847T>C) n.807T>C c.873T>C (p.Tyr291=) c.1656T>C (p.Tyr552=) c.1764T>C (p.Tyr588=) c.*1741T>C (n.*1741T>C) | ClinVar gnomAD v4 |
| 10 | g.49664809T>G | CA376713325 | CHAT | c.2010T>G (p.Tyr670Ter) c.*847T>G (n.*847T>G) n.807T>G c.873T>G (p.Tyr291Ter) c.1656T>G (p.Tyr552Ter) c.1764T>G (p.Tyr588Ter) c.*1741T>G (n.*1741T>G) | |
| 10 | g.49664810G>A | CA376713331 | CHAT | c.2011G>A (p.Gly671Ser) c.*848G>A (n.*848G>A) n.808G>A c.874G>A (p.Gly292Ser) c.1657G>A (p.Gly553Ser) c.1765G>A (p.Gly589Ser) c.*1742G>A (n.*1742G>A) | |
| 10 | g.49664810G>C | CA376713336 | CHAT | c.2011G>C (p.Gly671Arg) c.*848G>C (n.*848G>C) n.808G>C c.874G>C (p.Gly292Arg) c.1657G>C (p.Gly553Arg) c.1765G>C (p.Gly589Arg) c.*1742G>C (n.*1742G>C) | |
| 10 | g.49664810G>T | CA376713338 | CHAT | c.2011G>T (p.Gly671Cys) c.*848G>T (n.*848G>T) n.808G>T c.874G>T (p.Gly292Cys) c.1657G>T (p.Gly553Cys) c.1765G>T (p.Gly589Cys) c.*1742G>T (n.*1742G>T) | |
| 10 | g.49664811G>A | CA376713350 | CHAT | c.2012G>A (p.Gly671Asp) c.*849G>A (n.*849G>A) n.809G>A c.875G>A (p.Gly292Asp) c.1658G>A (p.Gly553Asp) c.1766G>A (p.Gly589Asp) c.*1743G>A (n.*1743G>A) | |
| 10 | g.49664811G>C | CA376713348 | CHAT | c.2012G>C (p.Gly671Ala) c.*849G>C (n.*849G>C) n.809G>C c.875G>C (p.Gly292Ala) c.1658G>C (p.Gly553Ala) c.1766G>C (p.Gly589Ala) c.*1743G>C (n.*1743G>C) | |
| 10 | g.49664811G>T | CA376713345 | CHAT | c.2012G>T (p.Gly671Val) c.*849G>T (n.*849G>T) n.809G>T c.875G>T (p.Gly292Val) c.1658G>T (p.Gly553Val) c.1766G>T (p.Gly589Val) c.*1743G>T (n.*1743G>T) | |
| 10 | g.49664812T>A | CA469792260 | CHAT | c.2013T>A (p.Gly671=) c.*850T>A (n.*850T>A) n.810T>A c.876T>A (p.Gly292=) c.1659T>A (p.Gly553=) c.1767T>A (p.Gly589=) c.*1744T>A (n.*1744T>A) | |
| 10 | g.49664812T>C | CA469792259 | CHAT | c.2013T>C (p.Gly671=) c.*850T>C (n.*850T>C) n.810T>C c.876T>C (p.Gly292=) c.1659T>C (p.Gly553=) c.1767T>C (p.Gly589=) c.*1744T>C (n.*1744T>C) | ClinVar |
| 10 | g.49664812T>G | CA469792258 | CHAT | c.2013T>G (p.Gly671=) c.*850T>G (n.*850T>G) n.810T>G c.876T>G (p.Gly292=) c.1659T>G (p.Gly553=) c.1767T>G (p.Gly589=) c.*1744T>G (n.*1744T>G) | |
| 10 | g.49664813C>A | CA376713353 | CHAT | c.2014C>A (p.Pro672Thr) c.*851C>A (n.*851C>A) n.811C>A c.877C>A (p.Pro293Thr) c.1660C>A (p.Pro554Thr) c.1768C>A (p.Pro590Thr) c.*1745C>A (n.*1745C>A) | |
| 10 | g.49664813C>G | CA376713356 | CHAT | c.2014C>G (p.Pro672Ala) c.*851C>G (n.*851C>G) n.811C>G c.877C>G (p.Pro293Ala) c.1660C>G (p.Pro554Ala) c.1768C>G (p.Pro590Ala) c.*1745C>G (n.*1745C>G) | |
| 10 | g.49664813C>T | CA376713360 | CHAT | c.2014C>T (p.Pro672Ser) c.*851C>T (n.*851C>T) n.811C>T c.877C>T (p.Pro293Ser) c.1660C>T (p.Pro554Ser) c.1768C>T (p.Pro590Ser) c.*1745C>T (n.*1745C>T) | gnomAD v4 |
| 10 | g.49664814C>A | CA376713363 | CHAT | c.2015C>A (p.Pro672His) c.*852C>A (n.*852C>A) n.812C>A c.878C>A (p.Pro293His) c.1661C>A (p.Pro554His) c.1769C>A (p.Pro590His) c.*1746C>A (n.*1746C>A) | |
| 10 | g.49664814C= | CA1908838812 | CHAT | c.2015C= (p.Pro672=) c.*852C= (n.*852C=) n.812C= c.878C= (p.Pro293=) c.1661C= (p.Pro554=) c.1769C= (p.Pro590=) c.*1746C= (n.*1746C=) | |
| 10 | g.49664814C>G | CA376713366 | CHAT | c.2015C>G (p.Pro672Arg) c.*852C>G (n.*852C>G) n.812C>G c.878C>G (p.Pro293Arg) c.1661C>G (p.Pro554Arg) c.1769C>G (p.Pro590Arg) c.*1746C>G (n.*1746C>G) | |
| 10 | g.49664814C>T | CA206624049 | CHAT | c.2015C>T (p.Pro672Leu) c.*852C>T (n.*852C>T) n.812C>T c.878C>T (p.Pro293Leu) c.1661C>T (p.Pro554Leu) c.1769C>T (p.Pro590Leu) c.*1746C>T (n.*1746C>T) | dbSNP |
| 10 | g.49664815T>A | CA469792263 | CHAT | c.2016T>A (p.Pro672=) c.*853T>A (n.*853T>A) n.813T>A c.879T>A (p.Pro293=) c.1662T>A (p.Pro554=) c.1770T>A (p.Pro590=) c.*1747T>A (n.*1747T>A) | |
| 10 | g.49664815T>C | CA469792262 | CHAT | c.2016T>C (p.Pro672=) c.*853T>C (n.*853T>C) n.813T>C c.879T>C (p.Pro293=) c.1662T>C (p.Pro554=) c.1770T>C (p.Pro590=) c.*1747T>C (n.*1747T>C) | ClinVar |
| 10 | g.49664815T>G | CA469792261 | CHAT | c.2016T>G (p.Pro672=) c.*853T>G (n.*853T>G) n.813T>G c.879T>G (p.Pro293=) c.1662T>G (p.Pro554=) c.1770T>G (p.Pro590=) c.*1747T>G (n.*1747T>G) | |
| 10 | g.49664816G>A | CA376713374 | CHAT | c.2017G>A (p.Val673Met) c.*854G>A (n.*854G>A) n.814G>A c.880G>A (p.Val294Met) c.1663G>A (p.Val555Met) c.1771G>A (p.Val591Met) c.*1748G>A (n.*1748G>A) | |
| 10 | g.49664816G>C | CA376713379 | CHAT | c.2017G>C (p.Val673Leu) c.*854G>C (n.*854G>C) n.814G>C c.880G>C (p.Val294Leu) c.1663G>C (p.Val555Leu) c.1771G>C (p.Val591Leu) c.*1748G>C (n.*1748G>C) | |
| 10 | g.49664816G>T | CA376713376 | CHAT | c.2017G>T (p.Val673Leu) c.*854G>T (n.*854G>T) n.814G>T c.880G>T (p.Val294Leu) c.1663G>T (p.Val555Leu) c.1771G>T (p.Val591Leu) c.*1748G>T (n.*1748G>T) | |
| 10 | g.49664817T>A | CA376713384 | CHAT | c.2018T>A (p.Val673Glu) c.*855T>A (n.*855T>A) n.815T>A c.881T>A (p.Val294Glu) c.1664T>A (p.Val555Glu) c.1772T>A (p.Val591Glu) c.*1749T>A (n.*1749T>A) | |
| 10 | g.49664817T>C | CA376713389 | CHAT | c.2018T>C (p.Val673Ala) c.*855T>C (n.*855T>C) n.815T>C c.881T>C (p.Val294Ala) c.1664T>C (p.Val555Ala) c.1772T>C (p.Val591Ala) c.*1749T>C (n.*1749T>C) | dbSNP |
| 10 | g.49664817T>G | CA376713391 | CHAT | c.2018T>G (p.Val673Gly) c.*855T>G (n.*855T>G) n.815T>G c.881T>G (p.Val294Gly) c.1664T>G (p.Val555Gly) c.1772T>G (p.Val591Gly) c.*1749T>G (n.*1749T>G) | |
| 10 | g.49664817T= | CA1908838813 | CHAT | c.2018T= (p.Val673=) c.*855T= (n.*855T=) n.815T= c.881T= (p.Val294=) c.1664T= (p.Val555=) c.1772T= (p.Val591=) c.*1749T= (n.*1749T=) | |
| 10 | g.49664818G>A | CA469792265 | CHAT | c.2019G>A (p.Val673=) c.*856G>A (n.*856G>A) n.816G>A c.882G>A (p.Val294=) c.1665G>A (p.Val555=) c.1773G>A (p.Val591=) c.*1750G>A (n.*1750G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664818G>C | CA469792264 | CHAT | c.2019G>C (p.Val673=) c.*856G>C (n.*856G>C) n.816G>C c.882G>C (p.Val294=) c.1665G>C (p.Val555=) c.1773G>C (p.Val591=) c.*1750G>C (n.*1750G>C) | |
| 10 | g.49664818G>T | CA469792266 | CHAT | c.2019G>T (p.Val673=) c.*856G>T (n.*856G>T) n.816G>T c.882G>T (p.Val294=) c.1665G>T (p.Val555=) c.1773G>T (p.Val591=) c.*1750G>T (n.*1750G>T) | COSMIC COSMIC |
| 10 | g.49664819G>A | CA376713394 | CHAT | c.2020G>A (p.Val674Ile) c.*857G>A (n.*857G>A) n.817G>A c.883G>A (p.Val295Ile) c.1666G>A (p.Val556Ile) c.1774G>A (p.Val592Ile) c.*1751G>A (n.*1751G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664819G>C | CA376713397 | CHAT | c.2020G>C (p.Val674Leu) c.*857G>C (n.*857G>C) n.817G>C c.883G>C (p.Val295Leu) c.1666G>C (p.Val556Leu) c.1774G>C (p.Val592Leu) c.*1751G>C (n.*1751G>C) | |
| 10 | g.49664819G= | CA1908838814 | CHAT | c.2020G= (p.Val674=) c.*857G= (n.*857G=) n.817G= c.883G= (p.Val295=) c.1666G= (p.Val556=) c.1774G= (p.Val592=) c.*1751G= (n.*1751G=) | |
| 10 | g.49664819G>T | CA376713400 | CHAT | c.2020G>T (p.Val674Phe) c.*857G>T (n.*857G>T) n.817G>T c.883G>T (p.Val295Phe) c.1666G>T (p.Val556Phe) c.1774G>T (p.Val592Phe) c.*1751G>T (n.*1751G>T) | |
| 10 | g.49664820T>A | CA376713403 | CHAT | c.2021T>A (p.Val674Asp) c.*858T>A (n.*858T>A) n.818T>A c.884T>A (p.Val295Asp) c.1667T>A (p.Val556Asp) c.1775T>A (p.Val592Asp) c.*1752T>A (n.*1752T>A) | gnomAD v4 |
| 10 | g.49664820T>C | CA376713406 | CHAT | c.2021T>C (p.Val674Ala) c.*858T>C (n.*858T>C) n.818T>C c.884T>C (p.Val295Ala) c.1667T>C (p.Val556Ala) c.1775T>C (p.Val592Ala) c.*1752T>C (n.*1752T>C) | |
| 10 | g.49664820T>G | CA376713410 | CHAT | c.2021T>G (p.Val674Gly) c.*858T>G (n.*858T>G) n.818T>G c.884T>G (p.Val295Gly) c.1667T>G (p.Val556Gly) c.1775T>G (p.Val592Gly) c.*1752T>G (n.*1752T>G) | |
| 10 | g.49664821C>A | CA469792268 | CHAT | c.2022C>A (p.Val674=) c.*859C>A (n.*859C>A) n.819C>A c.885C>A (p.Val295=) c.1668C>A (p.Val556=) c.1776C>A (p.Val592=) c.*1753C>A (n.*1753C>A) | |
| 10 | g.49664821C= | CA1908838815 | CHAT | c.2022C= (p.Val674=) c.*859C= (n.*859C=) n.819C= c.885C= (p.Val295=) c.1668C= (p.Val556=) c.1776C= (p.Val592=) c.*1753C= (n.*1753C=) | |
| 10 | g.49664821C>G | CA469792269 | CHAT | c.2022C>G (p.Val674=) c.*859C>G (n.*859C>G) n.819C>G c.885C>G (p.Val295=) c.1668C>G (p.Val556=) c.1776C>G (p.Val592=) c.*1753C>G (n.*1753C>G) | |
| 10 | g.49664821C>T | CA469792267 | CHAT | c.2022C>T (p.Val674=) c.*859C>T (n.*859C>T) n.819C>T c.885C>T (p.Val295=) c.1668C>T (p.Val556=) c.1776C>T (p.Val592=) c.*1753C>T (n.*1753C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664822C>A | CA376713414 | CHAT | c.2023C>A (p.Pro675Thr) c.*860C>A (n.*860C>A) n.820C>A c.886C>A (p.Pro296Thr) c.1669C>A (p.Pro557Thr) c.1777C>A (p.Pro593Thr) c.*1754C>A (n.*1754C>A) | dbSNP |
| 10 | g.49664822C= | CA1908838816 | CHAT | c.2023C= (p.Pro675=) c.*860C= (n.*860C=) n.820C= c.886C= (p.Pro296=) c.1669C= (p.Pro557=) c.1777C= (p.Pro593=) c.*1754C= (n.*1754C=) | |
| 10 | g.49664822C>G | CA376713416 | CHAT | c.2023C>G (p.Pro675Ala) c.*860C>G (n.*860C>G) n.820C>G c.886C>G (p.Pro296Ala) c.1669C>G (p.Pro557Ala) c.1777C>G (p.Pro593Ala) c.*1754C>G (n.*1754C>G) | dbSNP gnomAD v4 |
| 10 | g.49664822C>T | CA376713420 | CHAT | c.2023C>T (p.Pro675Ser) c.*860C>T (n.*860C>T) n.820C>T c.886C>T (p.Pro296Ser) c.1669C>T (p.Pro557Ser) c.1777C>T (p.Pro593Ser) c.*1754C>T (n.*1754C>T) | |
| 10 | g.49664823C>A | CA376713424 | CHAT | c.2024C>A (p.Pro675Gln) c.*861C>A (n.*861C>A) n.821C>A c.887C>A (p.Pro296Gln) c.1670C>A (p.Pro557Gln) c.1778C>A (p.Pro593Gln) c.*1755C>A (n.*1755C>A) | |
| 10 | g.49664823C>G | CA376713425 | CHAT | c.2024C>G (p.Pro675Arg) c.*861C>G (n.*861C>G) n.821C>G c.887C>G (p.Pro296Arg) c.1670C>G (p.Pro557Arg) c.1778C>G (p.Pro593Arg) c.*1755C>G (n.*1755C>G) | |
| 10 | g.49664823C>T | CA376713422 | CHAT | c.2024C>T (p.Pro675Leu) c.*861C>T (n.*861C>T) n.821C>T c.887C>T (p.Pro296Leu) c.1670C>T (p.Pro557Leu) c.1778C>T (p.Pro593Leu) c.*1755C>T (n.*1755C>T) | |
| 10 | g.49664824A= | CA1908838817 | CHAT | c.2025A= (p.Pro675=) c.*862A= (n.*862A=) n.822A= c.888A= (p.Pro296=) c.1671A= (p.Pro557=) c.1779A= (p.Pro593=) c.*1756A= (n.*1756A=) | |
| 10 | g.49664824A>C | CA469792271 | CHAT | c.2025A>C (p.Pro675=) c.*862A>C (n.*862A>C) n.822A>C c.888A>C (p.Pro296=) c.1671A>C (p.Pro557=) c.1779A>C (p.Pro593=) c.*1756A>C (n.*1756A>C) | |
| 10 | g.49664824A>G | CA469792270 | CHAT | c.2025A>G (p.Pro675=) c.*862A>G (n.*862A>G) n.822A>G c.888A>G (p.Pro296=) c.1671A>G (p.Pro557=) c.1779A>G (p.Pro593=) c.*1756A>G (n.*1756A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49664824A>T | CA469792272 | CHAT | c.2025A>T (p.Pro675=) c.*862A>T (n.*862A>T) n.822A>T c.888A>T (p.Pro296=) c.1671A>T (p.Pro557=) c.1779A>T (p.Pro593=) c.*1756A>T (n.*1756A>T) | |
| 10 | g.49664825A>C | CA376713426 | CHAT | c.2026A>C (p.Asn676His) c.*863A>C (n.*863A>C) n.823A>C c.889A>C (p.Asn297His) c.1672A>C (p.Asn558His) c.1780A>C (p.Asn594His) c.*1757A>C (n.*1757A>C) | |
| 10 | g.49664825A>G | CA376713432 | CHAT | c.2026A>G (p.Asn676Asp) c.*863A>G (n.*863A>G) n.823A>G c.889A>G (p.Asn297Asp) c.1672A>G (p.Asn558Asp) c.1780A>G (p.Asn594Asp) c.*1757A>G (n.*1757A>G) | |
| 10 | g.49664825A>T | CA376713430 | CHAT | c.2026A>T (p.Asn676Tyr) c.*863A>T (n.*863A>T) n.823A>T c.889A>T (p.Asn297Tyr) c.1672A>T (p.Asn558Tyr) c.1780A>T (p.Asn594Tyr) c.*1757A>T (n.*1757A>T) | |
| 10 | g.49664826A>C | CA376713434 | CHAT | c.2027A>C (p.Asn676Thr) c.*864A>C (n.*864A>C) n.824A>C c.890A>C (p.Asn297Thr) c.1673A>C (p.Asn558Thr) c.1781A>C (p.Asn594Thr) c.*1758A>C (n.*1758A>C) | |
| 10 | g.49664826A>G | CA376713436 | CHAT | c.2027A>G (p.Asn676Ser) c.*864A>G (n.*864A>G) n.824A>G c.890A>G (p.Asn297Ser) c.1673A>G (p.Asn558Ser) c.1781A>G (p.Asn594Ser) c.*1758A>G (n.*1758A>G) | gnomAD v4 |
| 10 | g.49664826A>T | CA376713439 | CHAT | c.2027A>T (p.Asn676Ile) c.*864A>T (n.*864A>T) n.824A>T c.890A>T (p.Asn297Ile) c.1673A>T (p.Asn558Ile) c.1781A>T (p.Asn594Ile) c.*1758A>T (n.*1758A>T) | |
| 10 | g.49664827T>A | CA376713458 | CHAT | c.2028T>A (p.Asn676Lys) c.*865T>A (n.*865T>A) n.825T>A c.891T>A (p.Asn297Lys) c.1674T>A (p.Asn558Lys) c.1782T>A (p.Asn594Lys) c.*1759T>A (n.*1759T>A) | |
| 10 | g.49664827T>C | CA469792273 | CHAT | c.2028T>C (p.Asn676=) c.*865T>C (n.*865T>C) n.825T>C c.891T>C (p.Asn297=) c.1674T>C (p.Asn558=) c.1782T>C (p.Asn594=) c.*1759T>C (n.*1759T>C) | COSMIC COSMIC |
| 10 | g.49664827T>G | CA376713464 | CHAT | c.2028T>G (p.Asn676Lys) c.*865T>G (n.*865T>G) n.825T>G c.891T>G (p.Asn297Lys) c.1674T>G (p.Asn558Lys) c.1782T>G (p.Asn594Lys) c.*1759T>G (n.*1759T>G) | |
| 10 | g.49664828G>A | CA376713467 | CHAT | c.2029G>A (p.Gly677Arg) c.*866G>A (n.*866G>A) n.826G>A c.892G>A (p.Gly298Arg) c.1675G>A (p.Gly559Arg) c.1783G>A (p.Gly595Arg) c.*1760G>A (n.*1760G>A) | dbSNP |
| 10 | g.49664828G>C | CA376713470 | CHAT | c.2029G>C (p.Gly677Arg) c.*866G>C (n.*866G>C) n.826G>C c.892G>C (p.Gly298Arg) c.1675G>C (p.Gly559Arg) c.1783G>C (p.Gly595Arg) c.*1760G>C (n.*1760G>C) | |
| 10 | g.49664828G= | CA1908838818 | CHAT | c.2029G= (p.Gly677=) c.*866G= (n.*866G=) n.826G= c.892G= (p.Gly298=) c.1675G= (p.Gly559=) c.1783G= (p.Gly595=) c.*1760G= (n.*1760G=) | |
| 10 | g.49664828G>T | CA376713472 | CHAT | c.2029G>T (p.Gly677Trp) c.*866G>T (n.*866G>T) n.826G>T c.892G>T (p.Gly298Trp) c.1675G>T (p.Gly559Trp) c.1783G>T (p.Gly595Trp) c.*1760G>T (n.*1760G>T) | gnomAD v4 |
| 10 | g.49664829G>A | CA376713474 | CHAT | c.2030G>A (p.Gly677Glu) c.*867G>A (n.*867G>A) n.827G>A c.893G>A (p.Gly298Glu) c.1676G>A (p.Gly559Glu) c.1784G>A (p.Gly595Glu) c.*1761G>A (n.*1761G>A) | |
| 10 | g.49664829G>C | CA376713478 | CHAT | c.2030G>C (p.Gly677Ala) c.*867G>C (n.*867G>C) n.827G>C c.893G>C (p.Gly298Ala) c.1676G>C (p.Gly559Ala) c.1784G>C (p.Gly595Ala) c.*1761G>C (n.*1761G>C) | |
| 10 | g.49664829G>T | CA376713480 | CHAT | c.2030G>T (p.Gly677Val) c.*867G>T (n.*867G>T) n.827G>T c.893G>T (p.Gly298Val) c.1676G>T (p.Gly559Val) c.1784G>T (p.Gly595Val) c.*1761G>T (n.*1761G>T) | |
| 10 | g.49664830G>A | CA469792276 | CHAT | c.2031G>A (p.Gly677=) c.*868G>A (n.*868G>A) n.828G>A c.894G>A (p.Gly298=) c.1677G>A (p.Gly559=) c.1785G>A (p.Gly595=) c.*1762G>A (n.*1762G>A) | |
| 10 | g.49664830G>C | CA469792275 | CHAT | c.2031G>C (p.Gly677=) c.*868G>C (n.*868G>C) n.828G>C c.894G>C (p.Gly298=) c.1677G>C (p.Gly559=) c.1785G>C (p.Gly595=) c.*1762G>C (n.*1762G>C) | |
| 10 | g.49664830G>T | CA469792274 | CHAT | c.2031G>T (p.Gly677=) c.*868G>T (n.*868G>T) n.828G>T c.894G>T (p.Gly298=) c.1677G>T (p.Gly559=) c.1785G>T (p.Gly595=) c.*1762G>T (n.*1762G>T) | gnomAD v4 |
| 10 | g.49664831T>A | CA376713491 | CHAT | c.2032T>A (p.Tyr678Asn) c.*869T>A (n.*869T>A) n.829T>A c.895T>A (p.Tyr299Asn) c.1678T>A (p.Tyr560Asn) c.1786T>A (p.Tyr596Asn) c.*1763T>A (n.*1763T>A) | |
| 10 | g.49664831T>C | CA376713488 | CHAT | c.2032T>C (p.Tyr678His) c.*869T>C (n.*869T>C) n.829T>C c.895T>C (p.Tyr299His) c.1678T>C (p.Tyr560His) c.1786T>C (p.Tyr596His) c.*1763T>C (n.*1763T>C) | |
| 10 | g.49664831T>G | CA376713485 | CHAT | c.2032T>G (p.Tyr678Asp) c.*869T>G (n.*869T>G) n.829T>G c.895T>G (p.Tyr299Asp) c.1678T>G (p.Tyr560Asp) c.1786T>G (p.Tyr596Asp) c.*1763T>G (n.*1763T>G) | |
| 10 | g.49664832A>C | CA376713494 | CHAT | c.2033A>C (p.Tyr678Ser) c.*870A>C (n.*870A>C) n.830A>C c.896A>C (p.Tyr299Ser) c.1679A>C (p.Tyr560Ser) c.1787A>C (p.Tyr596Ser) c.*1764A>C (n.*1764A>C) | |
| 10 | g.49664832A>G | CA376713497 | CHAT | c.2033A>G (p.Tyr678Cys) c.*870A>G (n.*870A>G) n.830A>G c.896A>G (p.Tyr299Cys) c.1679A>G (p.Tyr560Cys) c.1787A>G (p.Tyr596Cys) c.*1764A>G (n.*1764A>G) | |
| 10 | g.49664832A>T | CA376713499 | CHAT | c.2033A>T (p.Tyr678Phe) c.*870A>T (n.*870A>T) n.830A>T c.896A>T (p.Tyr299Phe) c.1679A>T (p.Tyr560Phe) c.1787A>T (p.Tyr596Phe) c.*1764A>T (n.*1764A>T) | |
| 10 | g.49664833T>A | CA376713501 | CHAT | c.2034T>A (p.Tyr678Ter) c.*871T>A (n.*871T>A) n.831T>A c.897T>A (p.Tyr299Ter) c.1680T>A (p.Tyr560Ter) c.1788T>A (p.Tyr596Ter) c.*1765T>A (n.*1765T>A) | |
| 10 | g.49664833T>C | CA5497710 | CHAT | c.2034T>C (p.Tyr678=) c.*871T>C (n.*871T>C) n.831T>C c.897T>C (p.Tyr299=) c.1680T>C (p.Tyr560=) c.1788T>C (p.Tyr596=) c.*1765T>C (n.*1765T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664833T>G | CA376713504 | CHAT | c.2034T>G (p.Tyr678Ter) c.*871T>G (n.*871T>G) n.831T>G c.897T>G (p.Tyr299Ter) c.1680T>G (p.Tyr560Ter) c.1788T>G (p.Tyr596Ter) c.*1765T>G (n.*1765T>G) | |
| 10 | g.49664833T= | CA1908838819 | CHAT | c.2034T= (p.Tyr678=) c.*871T= (n.*871T=) n.831T= c.897T= (p.Tyr299=) c.1680T= (p.Tyr560=) c.1788T= (p.Tyr596=) c.*1765T= (n.*1765T=) | |
| 10 | g.49664834G>A | CA376713508 | CHAT | c.2035G>A (p.Gly679Ser) c.*872G>A (n.*872G>A) n.832G>A c.898G>A (p.Gly300Ser) c.1681G>A (p.Gly561Ser) c.1789G>A (p.Gly597Ser) c.*1766G>A (n.*1766G>A) | |
| 10 | g.49664834G>C | CA376713511 | CHAT | c.2035G>C (p.Gly679Arg) c.*872G>C (n.*872G>C) n.832G>C c.898G>C (p.Gly300Arg) c.1681G>C (p.Gly561Arg) c.1789G>C (p.Gly597Arg) c.*1766G>C (n.*1766G>C) | |
| 10 | g.49664834G>T | CA376713514 | CHAT | c.2035G>T (p.Gly679Cys) c.*872G>T (n.*872G>T) n.832G>T c.898G>T (p.Gly300Cys) c.1681G>T (p.Gly561Cys) c.1789G>T (p.Gly597Cys) c.*1766G>T (n.*1766G>T) | |
| 10 | g.49664835G>A | CA376713517 | CHAT | c.2036G>A (p.Gly679Asp) c.*873G>A (n.*873G>A) n.833G>A c.899G>A (p.Gly300Asp) c.1682G>A (p.Gly561Asp) c.1790G>A (p.Gly597Asp) c.*1767G>A (n.*1767G>A) | |
| 10 | g.49664835G>C | CA376713537 | CHAT | c.2036G>C (p.Gly679Ala) c.*873G>C (n.*873G>C) n.833G>C c.899G>C (p.Gly300Ala) c.1682G>C (p.Gly561Ala) c.1790G>C (p.Gly597Ala) c.*1767G>C (n.*1767G>C) | |
| 10 | g.49664835G>T | CA376713540 | CHAT | c.2036G>T (p.Gly679Val) c.*873G>T (n.*873G>T) n.833G>T c.899G>T (p.Gly300Val) c.1682G>T (p.Gly561Val) c.1790G>T (p.Gly597Val) c.*1767G>T (n.*1767G>T) | |
| 10 | g.49664836T>A | CA469792279 | CHAT | c.2037T>A (p.Gly679=) c.*874T>A (n.*874T>A) n.834T>A c.900T>A (p.Gly300=) c.1683T>A (p.Gly561=) c.1791T>A (p.Gly597=) c.*1768T>A (n.*1768T>A) | |
| 10 | g.49664836T>C | CA469792278 | CHAT | c.2037T>C (p.Gly679=) c.*874T>C (n.*874T>C) n.834T>C c.900T>C (p.Gly300=) c.1683T>C (p.Gly561=) c.1791T>C (p.Gly597=) c.*1768T>C (n.*1768T>C) | |
| 10 | g.49664836T>G | CA469792277 | CHAT | c.2037T>G (p.Gly679=) c.*874T>G (n.*874T>G) n.834T>G c.900T>G (p.Gly300=) c.1683T>G (p.Gly561=) c.1791T>G (p.Gly597=) c.*1768T>G (n.*1768T>G) | |
| 10 | g.49664837G>A | CA376713550 | CHAT | c.2038G>A (p.Ala680Thr) c.*875G>A (n.*875G>A) n.835G>A c.901G>A (p.Ala301Thr) c.1684G>A (p.Ala562Thr) c.1792G>A (p.Ala598Thr) c.*1769G>A (n.*1769G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664837G>C | CA376713547 | CHAT | c.2038G>C (p.Ala680Pro) c.*875G>C (n.*875G>C) n.835G>C c.901G>C (p.Ala301Pro) c.1684G>C (p.Ala562Pro) c.1792G>C (p.Ala598Pro) c.*1769G>C (n.*1769G>C) | |
| 10 | g.49664837G= | CA1908838820 | CHAT | c.2038G= (p.Ala680=) c.*875G= (n.*875G=) n.835G= c.901G= (p.Ala301=) c.1684G= (p.Ala562=) c.1792G= (p.Ala598=) c.*1769G= (n.*1769G=) | |
| 10 | g.49664837G>T | CA376713544 | CHAT | c.2038G>T (p.Ala680Ser) c.*875G>T (n.*875G>T) n.835G>T c.901G>T (p.Ala301Ser) c.1684G>T (p.Ala562Ser) c.1792G>T (p.Ala598Ser) c.*1769G>T (n.*1769G>T) | |
| 10 | g.49664838C>A | CA376713560 | CHAT | c.2039C>A (p.Ala680Asp) c.*876C>A (n.*876C>A) n.836C>A c.902C>A (p.Ala301Asp) c.1685C>A (p.Ala562Asp) c.1793C>A (p.Ala598Asp) c.*1770C>A (n.*1770C>A) | |
| 10 | g.49664838C= | CA1908838821 | CHAT | c.2039C= (p.Ala680=) c.*876C= (n.*876C=) n.836C= c.902C= (p.Ala301=) c.1685C= (p.Ala562=) c.1793C= (p.Ala598=) c.*1770C= (n.*1770C=) | |
| 10 | g.49664838C>G | CA376713556 | CHAT | c.2039C>G (p.Ala680Gly) c.*876C>G (n.*876C>G) n.836C>G c.902C>G (p.Ala301Gly) c.1685C>G (p.Ala562Gly) c.1793C>G (p.Ala598Gly) c.*1770C>G (n.*1770C>G) | |
| 10 | g.49664838C>T | CA206624054 | CHAT | c.2039C>T (p.Ala680Val) c.*876C>T (n.*876C>T) n.836C>T c.902C>T (p.Ala301Val) c.1685C>T (p.Ala562Val) c.1793C>T (p.Ala598Val) c.*1770C>T (n.*1770C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664839C>A | CA469792281 | CHAT | c.2040C>A (p.Ala680=) c.*877C>A (n.*877C>A) n.837C>A c.903C>A (p.Ala301=) c.1686C>A (p.Ala562=) c.1794C>A (p.Ala598=) c.*1771C>A (n.*1771C>A) | |
| 10 | g.49664839C= | CA1908838822 | CHAT | c.2040C= (p.Ala680=) c.*877C= (n.*877C=) n.837C= c.903C= (p.Ala301=) c.1686C= (p.Ala562=) c.1794C= (p.Ala598=) c.*1771C= (n.*1771C=) | |
| 10 | g.49664839C>G | CA5497711 | CHAT | c.2040C>G (p.Ala680=) c.*877C>G (n.*877C>G) n.837C>G c.903C>G (p.Ala301=) c.1686C>G (p.Ala562=) c.1794C>G (p.Ala598=) c.*1771C>G (n.*1771C>G) | ClinVar dbSNP ExAC gnomAD v2 |
| 10 | g.49664839C>T | CA469792280 | CHAT | c.2040C>T (p.Ala680=) c.*877C>T (n.*877C>T) n.837C>T c.903C>T (p.Ala301=) c.1686C>T (p.Ala562=) c.1794C>T (p.Ala598=) c.*1771C>T (n.*1771C>T) | |
| 10 | g.49664840T>A | CA376713566 | CHAT | c.2041T>A (p.Cys681Ser) c.*878T>A (n.*878T>A) n.838T>A c.904T>A (p.Cys302Ser) c.1687T>A (p.Cys563Ser) c.1795T>A (p.Cys599Ser) c.*1772T>A (n.*1772T>A) | |
| 10 | g.49664840T>C | CA376713568 | CHAT | c.2041T>C (p.Cys681Arg) c.*878T>C (n.*878T>C) n.838T>C c.904T>C (p.Cys302Arg) c.1687T>C (p.Cys563Arg) c.1795T>C (p.Cys599Arg) c.*1772T>C (n.*1772T>C) | |
| 10 | g.49664840T>G | CA376713571 | CHAT | c.2041T>G (p.Cys681Gly) c.*878T>G (n.*878T>G) n.838T>G c.904T>G (p.Cys302Gly) c.1687T>G (p.Cys563Gly) c.1795T>G (p.Cys599Gly) c.*1772T>G (n.*1772T>G) | |
| 10 | g.49664841del | CA645563098 | CHAT | c.2042del (p.Cys681SerfsTer?) c.*879del (n.*879del) n.839del c.905del (p.Cys302SerfsTer?) c.1688del (p.Cys563SerfsTer?) c.1796del (p.Cys599SerfsTer?) c.*1773del (n.*1773del) | COSMIC COSMIC |
| 10 | g.49664841G>A | CA376713580 | CHAT | c.2042G>A (p.Cys681Tyr) c.*879G>A (n.*879G>A) n.839G>A c.905G>A (p.Cys302Tyr) c.1688G>A (p.Cys563Tyr) c.1796G>A (p.Cys599Tyr) c.*1773G>A (n.*1773G>A) | dbSNP |
| 10 | g.49664841G>C | CA376713574 | CHAT | c.2042G>C (p.Cys681Ser) c.*879G>C (n.*879G>C) n.839G>C c.905G>C (p.Cys302Ser) c.1688G>C (p.Cys563Ser) c.1796G>C (p.Cys599Ser) c.*1773G>C (n.*1773G>C) | |
| 10 | g.49664841G= | CA1908838823 | CHAT | c.2042G= (p.Cys681=) c.*879G= (n.*879G=) n.839G= c.905G= (p.Cys302=) c.1688G= (p.Cys563=) c.1796G= (p.Cys599=) c.*1773G= (n.*1773G=) | |
| 10 | g.49664841G>T | CA376713576 | CHAT | c.2042G>T (p.Cys681Phe) c.*879G>T (n.*879G>T) n.839G>T c.905G>T (p.Cys302Phe) c.1688G>T (p.Cys563Phe) c.1796G>T (p.Cys599Phe) c.*1773G>T (n.*1773G>T) | |
| 10 | g.49664842C>A | CA376713582 | CHAT | c.2043C>A (p.Cys681Ter) c.*880C>A (n.*880C>A) n.840C>A c.906C>A (p.Cys302Ter) c.1689C>A (p.Cys563Ter) c.1797C>A (p.Cys599Ter) c.*1774C>A (n.*1774C>A) | COSMIC COSMIC |
| 10 | g.49664842C>G | CA376713584 | CHAT | c.2043C>G (p.Cys681Trp) c.*880C>G (n.*880C>G) n.840C>G c.906C>G (p.Cys302Trp) c.1689C>G (p.Cys563Trp) c.1797C>G (p.Cys599Trp) c.*1774C>G (n.*1774C>G) | gnomAD v4 |
| 10 | g.49664842C>T | CA469792282 | CHAT | c.2043C>T (p.Cys681=) c.*880C>T (n.*880C>T) n.840C>T c.906C>T (p.Cys302=) c.1689C>T (p.Cys563=) c.1797C>T (p.Cys599=) c.*1774C>T (n.*1774C>T) | |
| 10 | g.49664843T>A | CA376713589 | CHAT | c.2044T>A (p.Tyr682Asn) c.*881T>A (n.*881T>A) n.841T>A c.907T>A (p.Tyr303Asn) c.1690T>A (p.Tyr564Asn) c.1798T>A (p.Tyr600Asn) c.*1775T>A (n.*1775T>A) | |
| 10 | g.49664843T>C | CA376713592 | CHAT | c.2044T>C (p.Tyr682His) c.*881T>C (n.*881T>C) n.841T>C c.907T>C (p.Tyr303His) c.1690T>C (p.Tyr564His) c.1798T>C (p.Tyr600His) c.*1775T>C (n.*1775T>C) | |
| 10 | g.49664843T>G | CA376713596 | CHAT | c.2044T>G (p.Tyr682Asp) c.*881T>G (n.*881T>G) n.841T>G c.907T>G (p.Tyr303Asp) c.1690T>G (p.Tyr564Asp) c.1798T>G (p.Tyr600Asp) c.*1775T>G (n.*1775T>G) | |
| 10 | g.49664844A>C | CA376713599 | CHAT | c.2045A>C (p.Tyr682Ser) c.*882A>C (n.*882A>C) n.842A>C c.908A>C (p.Tyr303Ser) c.1691A>C (p.Tyr564Ser) c.1799A>C (p.Tyr600Ser) c.*1776A>C (n.*1776A>C) | |
| 10 | g.49664844A>G | CA376713607 | CHAT | c.2045A>G (p.Tyr682Cys) c.*882A>G (n.*882A>G) n.842A>G c.908A>G (p.Tyr303Cys) c.1691A>G (p.Tyr564Cys) c.1799A>G (p.Tyr600Cys) c.*1776A>G (n.*1776A>G) | |
| 10 | g.49664844A>T | CA376713603 | CHAT | c.2045A>T (p.Tyr682Phe) c.*882A>T (n.*882A>T) n.842A>T c.908A>T (p.Tyr303Phe) c.1691A>T (p.Tyr564Phe) c.1799A>T (p.Tyr600Phe) c.*1776A>T (n.*1776A>T) | |
| 10 | g.49664845C>A | CA376713611 | CHAT | c.2046C>A (p.Tyr682Ter) c.*883C>A (n.*883C>A) n.843C>A c.909C>A (p.Tyr303Ter) c.1692C>A (p.Tyr564Ter) c.1800C>A (p.Tyr600Ter) c.*1777C>A (n.*1777C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664845C= | CA1908838824 | CHAT | c.2046C= (p.Tyr682=) c.*883C= (n.*883C=) n.843C= c.909C= (p.Tyr303=) c.1692C= (p.Tyr564=) c.1800C= (p.Tyr600=) c.*1777C= (n.*1777C=) | |
| 10 | g.49664845C>G | CA376713614 | CHAT | c.2046C>G (p.Tyr682Ter) c.*883C>G (n.*883C>G) n.843C>G c.909C>G (p.Tyr303Ter) c.1692C>G (p.Tyr564Ter) c.1800C>G (p.Tyr600Ter) c.*1777C>G (n.*1777C>G) | ClinVar |
| 10 | g.49664845C>T | CA5497712 | CHAT | c.2046C>T (p.Tyr682=) c.*883C>T (n.*883C>T) n.843C>T c.909C>T (p.Tyr303=) c.1692C>T (p.Tyr564=) c.1800C>T (p.Tyr600=) c.*1777C>T (n.*1777C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664846A>C | CA376713620 | CHAT | c.2047A>C (p.Asn683His) c.*884A>C (n.*884A>C) n.844A>C c.910A>C (p.Asn304His) c.1693A>C (p.Asn565His) c.1801A>C (p.Asn601His) c.*1778A>C (n.*1778A>C) | |
| 10 | g.49664846A>G | CA376713622 | CHAT | c.2047A>G (p.Asn683Asp) c.*884A>G (n.*884A>G) n.844A>G c.910A>G (p.Asn304Asp) c.1693A>G (p.Asn565Asp) c.1801A>G (p.Asn601Asp) c.*1778A>G (n.*1778A>G) | |
| 10 | g.49664846A>T | CA376713626 | CHAT | c.2047A>T (p.Asn683Tyr) c.*884A>T (n.*884A>T) n.844A>T c.910A>T (p.Asn304Tyr) c.1693A>T (p.Asn565Tyr) c.1801A>T (p.Asn601Tyr) c.*1778A>T (n.*1778A>T) | |
| 10 | g.49664847A= | CA1908838825 | CHAT | c.2048A= (p.Asn683=) c.*885A= (n.*885A=) n.845A= c.911A= (p.Asn304=) c.1694A= (p.Asn565=) c.1802A= (p.Asn601=) c.*1779A= (n.*1779A=) | |
| 10 | g.49664847A>C | CA376713628 | CHAT | c.2048A>C (p.Asn683Thr) c.*885A>C (n.*885A>C) n.845A>C c.911A>C (p.Asn304Thr) c.1694A>C (p.Asn565Thr) c.1802A>C (p.Asn601Thr) c.*1779A>C (n.*1779A>C) | dbSNP |
| 10 | g.49664847A>G | CA376713632 | CHAT | c.2048A>G (p.Asn683Ser) c.*885A>G (n.*885A>G) n.845A>G c.911A>G (p.Asn304Ser) c.1694A>G (p.Asn565Ser) c.1802A>G (p.Asn601Ser) c.*1779A>G (n.*1779A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664847A>T | CA376713636 | CHAT | c.2048A>T (p.Asn683Ile) c.*885A>T (n.*885A>T) n.845A>T c.911A>T (p.Asn304Ile) c.1694A>T (p.Asn565Ile) c.1802A>T (p.Asn601Ile) c.*1779A>T (n.*1779A>T) | COSMIC COSMIC |
| 10 | g.49664848C>A | CA376713639 | CHAT | c.2049C>A (p.Asn683Lys) c.*886C>A (n.*886C>A) n.846C>A c.912C>A (p.Asn304Lys) c.1695C>A (p.Asn565Lys) c.1803C>A (p.Asn601Lys) c.*1780C>A (n.*1780C>A) | |
| 10 | g.49664848C= | CA1908838826 | CHAT | c.2049C= (p.Asn683=) c.*886C= (n.*886C=) n.846C= c.912C= (p.Asn304=) c.1695C= (p.Asn565=) c.1803C= (p.Asn601=) c.*1780C= (n.*1780C=) | |
| 10 | g.49664848C>G | CA376713643 | CHAT | c.2049C>G (p.Asn683Lys) c.*886C>G (n.*886C>G) n.846C>G c.912C>G (p.Asn304Lys) c.1695C>G (p.Asn565Lys) c.1803C>G (p.Asn601Lys) c.*1780C>G (n.*1780C>G) | gnomAD v4 |
| 10 | g.49664848C>T | CA206624059 | CHAT | c.2049C>T (p.Asn683=) c.*886C>T (n.*886C>T) n.846C>T c.912C>T (p.Asn304=) c.1695C>T (p.Asn565=) c.1803C>T (p.Asn601=) c.*1780C>T (n.*1780C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664849C>A | CA376713648 | CHAT | c.2050C>A (p.Pro684Thr) c.*887C>A (n.*887C>A) n.847C>A c.913C>A (p.Pro305Thr) c.1696C>A (p.Pro566Thr) c.1804C>A (p.Pro602Thr) c.*1781C>A (n.*1781C>A) | |
| 10 | g.49664849C= | CA1908838827 | CHAT | c.2050C= (p.Pro684=) c.*887C= (n.*887C=) n.847C= c.913C= (p.Pro305=) c.1696C= (p.Pro566=) c.1804C= (p.Pro602=) c.*1781C= (n.*1781C=) | |
| 10 | g.49664849C>G | CA376713652 | CHAT | c.2050C>G (p.Pro684Ala) c.*887C>G (n.*887C>G) n.847C>G c.913C>G (p.Pro305Ala) c.1696C>G (p.Pro566Ala) c.1804C>G (p.Pro602Ala) c.*1781C>G (n.*1781C>G) | |
| 10 | g.49664849C>T | CA5497713 | CHAT | c.2050C>T (p.Pro684Ser) c.*887C>T (n.*887C>T) n.847C>T c.913C>T (p.Pro305Ser) c.1696C>T (p.Pro566Ser) c.1804C>T (p.Pro602Ser) c.*1781C>T (n.*1781C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664850C>A | CA376713654 | CHAT | c.2051C>A (p.Pro684His) c.*888C>A (n.*888C>A) n.848C>A c.914C>A (p.Pro305His) c.1697C>A (p.Pro566His) c.1805C>A (p.Pro602His) c.*1782C>A (n.*1782C>A) | |
| 10 | g.49664850C>G | CA376713663 | CHAT | c.2051C>G (p.Pro684Arg) c.*888C>G (n.*888C>G) n.848C>G c.914C>G (p.Pro305Arg) c.1697C>G (p.Pro566Arg) c.1805C>G (p.Pro602Arg) c.*1782C>G (n.*1782C>G) | gnomAD v4 |
| 10 | g.49664850C>T | CA376713659 | CHAT | c.2051C>T (p.Pro684Leu) c.*888C>T (n.*888C>T) n.848C>T c.914C>T (p.Pro305Leu) c.1697C>T (p.Pro566Leu) c.1805C>T (p.Pro602Leu) c.*1782C>T (n.*1782C>T) | |
| 10 | g.49664851C>A | CA469792285 | CHAT | c.2052C>A (p.Pro684=) c.*889C>A (n.*889C>A) n.849C>A c.915C>A (p.Pro305=) c.1698C>A (p.Pro566=) c.1806C>A (p.Pro602=) c.*1783C>A (n.*1783C>A) | |
| 10 | g.49664851C>G | CA469792284 | CHAT | c.2052C>G (p.Pro684=) c.*889C>G (n.*889C>G) n.849C>G c.915C>G (p.Pro305=) c.1698C>G (p.Pro566=) c.1806C>G (p.Pro602=) c.*1783C>G (n.*1783C>G) | |
| 10 | g.49664851C>T | CA469792283 | CHAT | c.2052C>T (p.Pro684=) c.*889C>T (n.*889C>T) n.849C>T c.915C>T (p.Pro305=) c.1698C>T (p.Pro566=) c.1806C>T (p.Pro602=) c.*1783C>T (n.*1783C>T) | |
| 10 | g.49664852C>A | CA376713668 | CHAT | c.2053C>A (p.Gln685Lys) c.*890C>A (n.*890C>A) n.850C>A c.916C>A (p.Gln306Lys) c.1699C>A (p.Gln567Lys) c.1807C>A (p.Gln603Lys) c.*1784C>A (n.*1784C>A) | COSMIC COSMIC |
| 10 | g.49664852C= | CA1908838828 | CHAT | c.2053C= (p.Gln685=) c.*890C= (n.*890C=) n.850C= c.916C= (p.Gln306=) c.1699C= (p.Gln567=) c.1807C= (p.Gln603=) c.*1784C= (n.*1784C=) | |
| 10 | g.49664852C>G | CA376713671 | CHAT | c.2053C>G (p.Gln685Glu) c.*890C>G (n.*890C>G) n.850C>G c.916C>G (p.Gln306Glu) c.1699C>G (p.Gln567Glu) c.1807C>G (p.Gln603Glu) c.*1784C>G (n.*1784C>G) | |
| 10 | g.49664852C>T | CA376713675 | CHAT | c.2053C>T (p.Gln685Ter) c.*890C>T (n.*890C>T) n.850C>T c.916C>T (p.Gln306Ter) c.1699C>T (p.Gln567Ter) c.1807C>T (p.Gln603Ter) c.*1784C>T (n.*1784C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 10 | g.49664853A>C | CA376713679 | CHAT | c.2054A>C (p.Gln685Pro) c.*891A>C (n.*891A>C) n.851A>C c.917A>C (p.Gln306Pro) c.1700A>C (p.Gln567Pro) c.1808A>C (p.Gln603Pro) c.*1785A>C (n.*1785A>C) | |
| 10 | g.49664853A>G | CA376713683 | CHAT | c.2054A>G (p.Gln685Arg) c.*891A>G (n.*891A>G) n.851A>G c.917A>G (p.Gln306Arg) c.1700A>G (p.Gln567Arg) c.1808A>G (p.Gln603Arg) c.*1785A>G (n.*1785A>G) | |
| 10 | g.49664853A>T | CA376713685 | CHAT | c.2054A>T (p.Gln685Leu) c.*891A>T (n.*891A>T) n.851A>T c.917A>T (p.Gln306Leu) c.1700A>T (p.Gln567Leu) c.1808A>T (p.Gln603Leu) c.*1785A>T (n.*1785A>T) | |
| 10 | g.49664854G>A | CA469792286 | CHAT | c.2055G>A (p.Gln685=) c.*892G>A (n.*892G>A) n.852G>A c.918G>A (p.Gln306=) c.1701G>A (p.Gln567=) c.1809G>A (p.Gln603=) c.*1786G>A (n.*1786G>A) | gnomAD v4 |
| 10 | g.49664854G>C | CA376713687 | CHAT | c.2055G>C (p.Gln685His) c.*892G>C (n.*892G>C) n.852G>C c.918G>C (p.Gln306His) c.1701G>C (p.Gln567His) c.1809G>C (p.Gln603His) c.*1786G>C (n.*1786G>C) | |
| 10 | g.49664854G>T | CA376713692 | CHAT | c.2055G>T (p.Gln685His) c.*892G>T (n.*892G>T) n.852G>T c.918G>T (p.Gln306His) c.1701G>T (p.Gln567His) c.1809G>T (p.Gln603His) c.*1786G>T (n.*1786G>T) | |
| 10 | g.49664855C>A | CA376713694 | CHAT | c.2056C>A (p.Pro686Thr) c.*893C>A (n.*893C>A) n.853C>A c.919C>A (p.Pro307Thr) c.1702C>A (p.Pro568Thr) c.1810C>A (p.Pro604Thr) c.*1787C>A (n.*1787C>A) | |
| 10 | g.49664855C>G | CA376713697 | CHAT | c.2056C>G (p.Pro686Ala) c.*893C>G (n.*893C>G) n.853C>G c.919C>G (p.Pro307Ala) c.1702C>G (p.Pro568Ala) c.1810C>G (p.Pro604Ala) c.*1787C>G (n.*1787C>G) | |
| 10 | g.49664855C>T | CA376713698 | CHAT | c.2056C>T (p.Pro686Ser) c.*893C>T (n.*893C>T) n.853C>T c.919C>T (p.Pro307Ser) c.1702C>T (p.Pro568Ser) c.1810C>T (p.Pro604Ser) c.*1787C>T (n.*1787C>T) | gnomAD v4 |
| 10 | g.49664856C>A | CA376713702 | CHAT | c.2057C>A (p.Pro686Gln) c.*894C>A (n.*894C>A) n.854C>A c.920C>A (p.Pro307Gln) c.1703C>A (p.Pro568Gln) c.1811C>A (p.Pro604Gln) c.*1788C>A (n.*1788C>A) | |
| 10 | g.49664856C>G | CA376713699 | CHAT | c.2057C>G (p.Pro686Arg) c.*894C>G (n.*894C>G) n.854C>G c.920C>G (p.Pro307Arg) c.1703C>G (p.Pro568Arg) c.1811C>G (p.Pro604Arg) c.*1788C>G (n.*1788C>G) | |
| 10 | g.49664856C>T | CA376713700 | CHAT | c.2057C>T (p.Pro686Leu) c.*894C>T (n.*894C>T) n.854C>T c.920C>T (p.Pro307Leu) c.1703C>T (p.Pro568Leu) c.1811C>T (p.Pro604Leu) c.*1788C>T (n.*1788C>T) | gnomAD v4 |
| 10 | g.49664857A>C | CA469792289 | CHAT | c.2058A>C (p.Pro686=) c.*895A>C (n.*895A>C) n.855A>C c.921A>C (p.Pro307=) c.1704A>C (p.Pro568=) c.1812A>C (p.Pro604=) c.*1789A>C (n.*1789A>C) | |
| 10 | g.49664857A>G | CA469792288 | CHAT | c.2058A>G (p.Pro686=) c.*895A>G (n.*895A>G) n.855A>G c.921A>G (p.Pro307=) c.1704A>G (p.Pro568=) c.1812A>G (p.Pro604=) c.*1789A>G (n.*1789A>G) | |
| 10 | g.49664857A>T | CA469792287 | CHAT | c.2058A>T (p.Pro686=) c.*895A>T (n.*895A>T) n.855A>T c.921A>T (p.Pro307=) c.1704A>T (p.Pro568=) c.1812A>T (p.Pro604=) c.*1789A>T (n.*1789A>T) | |
| 10 | g.49664858G>A | CA376713716 | CHAT | c.2059G>A (p.Glu687Lys) c.*896G>A (n.*896G>A) n.856G>A c.922G>A (p.Glu308Lys) c.1705G>A (p.Glu569Lys) c.1813G>A (p.Glu605Lys) c.*1790G>A (n.*1790G>A) | |
| 10 | g.49664858G>C | CA376713720 | CHAT | c.2059G>C (p.Glu687Gln) c.*896G>C (n.*896G>C) n.856G>C c.922G>C (p.Glu308Gln) c.1705G>C (p.Glu569Gln) c.1813G>C (p.Glu605Gln) c.*1790G>C (n.*1790G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664858G= | CA1908838829 | CHAT | c.2059G= (p.Glu687=) c.*896G= (n.*896G=) n.856G= c.922G= (p.Glu308=) c.1705G= (p.Glu569=) c.1813G= (p.Glu605=) c.*1790G= (n.*1790G=) | |
| 10 | g.49664858G>T | CA376713722 | CHAT | c.2059G>T (p.Glu687Ter) c.*896G>T (n.*896G>T) n.856G>T c.922G>T (p.Glu308Ter) c.1705G>T (p.Glu569Ter) c.1813G>T (p.Glu605Ter) c.*1790G>T (n.*1790G>T) | |
| 10 | g.49664859A>C | CA376713725 | CHAT | c.2060A>C (p.Glu687Ala) c.*897A>C (n.*897A>C) n.857A>C c.923A>C (p.Glu308Ala) c.1706A>C (p.Glu569Ala) c.1814A>C (p.Glu605Ala) c.*1791A>C (n.*1791A>C) | |
| 10 | g.49664859A>G | CA376713728 | CHAT | c.2060A>G (p.Glu687Gly) c.*897A>G (n.*897A>G) n.857A>G c.923A>G (p.Glu308Gly) c.1706A>G (p.Glu569Gly) c.1814A>G (p.Glu605Gly) c.*1791A>G (n.*1791A>G) | |
| 10 | g.49664859A>T | CA376713731 | CHAT | c.2060A>T (p.Glu687Val) c.*897A>T (n.*897A>T) n.857A>T c.923A>T (p.Glu308Val) c.1706A>T (p.Glu569Val) c.1814A>T (p.Glu605Val) c.*1791A>T (n.*1791A>T) | |
| 10 | g.49664860G>A | CA469792290 | CHAT | c.2061G>A (p.Glu687=) c.*898G>A (n.*898G>A) n.858G>A c.924G>A (p.Glu308=) c.1707G>A (p.Glu569=) c.1815G>A (p.Glu605=) c.*1792G>A (n.*1792G>A) | |
| 10 | g.49664860G>C | CA376713735 | CHAT | c.2061G>C (p.Glu687Asp) c.*898G>C (n.*898G>C) n.858G>C c.924G>C (p.Glu308Asp) c.1707G>C (p.Glu569Asp) c.1815G>C (p.Glu605Asp) c.*1792G>C (n.*1792G>C) | |
| 10 | g.49664860G>T | CA376713737 | CHAT | c.2061G>T (p.Glu687Asp) c.*898G>T (n.*898G>T) n.858G>T c.924G>T (p.Glu308Asp) c.1707G>T (p.Glu569Asp) c.1815G>T (p.Glu605Asp) c.*1792G>T (n.*1792G>T) | |
| 10 | g.49664861A>C | CA376713740 | CHAT | c.2062A>C (p.Thr688Pro) c.*899A>C (n.*899A>C) n.859A>C c.925A>C (p.Thr309Pro) c.1708A>C (p.Thr570Pro) c.1816A>C (p.Thr606Pro) c.*1793A>C (n.*1793A>C) | |
| 10 | g.49664861A>G | CA376713745 | CHAT | c.2062A>G (p.Thr688Ala) c.*899A>G (n.*899A>G) n.859A>G c.925A>G (p.Thr309Ala) c.1708A>G (p.Thr570Ala) c.1816A>G (p.Thr606Ala) c.*1793A>G (n.*1793A>G) | |
| 10 | g.49664861A>T | CA376713746 | CHAT | c.2062A>T (p.Thr688Ser) c.*899A>T (n.*899A>T) n.859A>T c.925A>T (p.Thr309Ser) c.1708A>T (p.Thr570Ser) c.1816A>T (p.Thr606Ser) c.*1793A>T (n.*1793A>T) | |
| 10 | g.49664862C>A | CA376713748 | CHAT | c.2063C>A (p.Thr688Asn) c.*900C>A (n.*900C>A) n.860C>A c.926C>A (p.Thr309Asn) c.1709C>A (p.Thr570Asn) c.1817C>A (p.Thr606Asn) c.*1794C>A (n.*1794C>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.49664862C= | CA1908838830 | CHAT | c.2063C= (p.Thr688=) c.*900C= (n.*900C=) n.860C= c.926C= (p.Thr309=) c.1709C= (p.Thr570=) c.1817C= (p.Thr606=) c.*1794C= (n.*1794C=) | |
| 10 | g.49664862C>G | CA376713751 | CHAT | c.2063C>G (p.Thr688Ser) c.*900C>G (n.*900C>G) n.860C>G c.926C>G (p.Thr309Ser) c.1709C>G (p.Thr570Ser) c.1817C>G (p.Thr606Ser) c.*1794C>G (n.*1794C>G) | |
| 10 | g.49664862C>T | CA376713747 | CHAT | c.2063C>T (p.Thr688Ile) c.*900C>T (n.*900C>T) n.860C>T c.926C>T (p.Thr309Ile) c.1709C>T (p.Thr570Ile) c.1817C>T (p.Thr606Ile) c.*1794C>T (n.*1794C>T) | |
| 10 | g.49664863C>A | CA469792293 | CHAT | c.2064C>A (p.Thr688=) c.*901C>A (n.*901C>A) n.861C>A c.927C>A (p.Thr309=) c.1710C>A (p.Thr570=) c.1818C>A (p.Thr606=) c.*1795C>A (n.*1795C>A) | |
| 10 | g.49664863C>G | CA469792292 | CHAT | c.2064C>G (p.Thr688=) c.*901C>G (n.*901C>G) n.861C>G c.927C>G (p.Thr309=) c.1710C>G (p.Thr570=) c.1818C>G (p.Thr606=) c.*1795C>G (n.*1795C>G) | |
| 10 | g.49664863C>T | CA469792291 | CHAT | c.2064C>T (p.Thr688=) c.*901C>T (n.*901C>T) n.861C>T c.927C>T (p.Thr309=) c.1710C>T (p.Thr570=) c.1818C>T (p.Thr606=) c.*1795C>T (n.*1795C>T) | |
| 10 | g.49664864A>C | CA376713755 | CHAT | c.2065A>C (p.Ile689Leu) c.*902A>C (n.*902A>C) n.862A>C c.928A>C (p.Ile310Leu) c.1711A>C (p.Ile571Leu) c.1819A>C (p.Ile607Leu) c.*1796A>C (n.*1796A>C) | |
| 10 | g.49664864A>G | CA376713757 | CHAT | c.2065A>G (p.Ile689Val) c.*902A>G (n.*902A>G) n.862A>G c.928A>G (p.Ile310Val) c.1711A>G (p.Ile571Val) c.1819A>G (p.Ile607Val) c.*1796A>G (n.*1796A>G) | |
| 10 | g.49664864A>T | CA376713760 | CHAT | c.2065A>T (p.Ile689Phe) c.*902A>T (n.*902A>T) n.862A>T c.928A>T (p.Ile310Phe) c.1711A>T (p.Ile571Phe) c.1819A>T (p.Ile607Phe) c.*1796A>T (n.*1796A>T) | |
| 10 | g.49664865T>A | CA5497714 | CHAT | c.2066T>A (p.Ile689Asn) c.*903T>A (n.*903T>A) n.863T>A c.929T>A (p.Ile310Asn) c.1712T>A (p.Ile571Asn) c.1820T>A (p.Ile607Asn) c.*1797T>A (n.*1797T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49664865T>C | CA376713764 | CHAT | c.2066T>C (p.Ile689Thr) c.*903T>C (n.*903T>C) n.863T>C c.929T>C (p.Ile310Thr) c.1712T>C (p.Ile571Thr) c.1820T>C (p.Ile607Thr) c.*1797T>C (n.*1797T>C) | |
| 10 | g.49664865T>G | CA376713767 | CHAT | c.2066T>G (p.Ile689Ser) c.*903T>G (n.*903T>G) n.863T>G c.929T>G (p.Ile310Ser) c.1712T>G (p.Ile571Ser) c.1820T>G (p.Ile607Ser) c.*1797T>G (n.*1797T>G) | |
| 10 | g.49664865T= | CA1908838831 | CHAT | c.2066T= (p.Ile689=) c.*903T= (n.*903T=) n.863T= c.929T= (p.Ile310=) c.1712T= (p.Ile571=) c.1820T= (p.Ile607=) c.*1797T= (n.*1797T=) | |
| 10 | g.49664866C>A | CA469792294 | CHAT | c.2067C>A (p.Ile689=) c.*904C>A (n.*904C>A) n.864C>A c.930C>A (p.Ile310=) c.1713C>A (p.Ile571=) c.1821C>A (p.Ile607=) c.*1798C>A (n.*1798C>A) | ClinVar |
| 10 | g.49664866C= | CA1908838832 | CHAT | c.2067C= (p.Ile689=) c.*904C= (n.*904C=) n.864C= c.930C= (p.Ile310=) c.1713C= (p.Ile571=) c.1821C= (p.Ile607=) c.*1798C= (n.*1798C=) | |
| 10 | g.49664866C>G | CA376713781 | CHAT | c.2067C>G (p.Ile689Met) c.*904C>G (n.*904C>G) n.864C>G c.930C>G (p.Ile310Met) c.1713C>G (p.Ile571Met) c.1821C>G (p.Ile607Met) c.*1798C>G (n.*1798C>G) | |
| 10 | g.49664866C>T | CA152349 | CHAT | c.2067C>T (p.Ile689=) c.*904C>T (n.*904C>T) n.864C>T c.930C>T (p.Ile310=) c.1713C>T (p.Ile571=) c.1821C>T (p.Ile607=) c.*1798C>T (n.*1798C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664867C>A | CA376713792 | CHAT | c.2068C>A (p.Leu690Ile) c.*905C>A (n.*905C>A) n.865C>A c.931C>A (p.Leu311Ile) c.1714C>A (p.Leu572Ile) c.1822C>A (p.Leu608Ile) c.*1799C>A (n.*1799C>A) | |
| 10 | g.49664867C>G | CA376713795 | CHAT | c.2068C>G (p.Leu690Val) c.*905C>G (n.*905C>G) n.865C>G c.931C>G (p.Leu311Val) c.1714C>G (p.Leu572Val) c.1822C>G (p.Leu608Val) c.*1799C>G (n.*1799C>G) | gnomAD v4 |
| 10 | g.49664867C>T | CA376713797 | CHAT | c.2068C>T (p.Leu690Phe) c.*905C>T (n.*905C>T) n.865C>T c.931C>T (p.Leu311Phe) c.1714C>T (p.Leu572Phe) c.1822C>T (p.Leu608Phe) c.*1799C>T (n.*1799C>T) | COSMIC COSMIC |
| 10 | g.49664868T>A | CA376713800 | CHAT | c.2069T>A (p.Leu690His) c.*906T>A (n.*906T>A) n.866T>A c.932T>A (p.Leu311His) c.1715T>A (p.Leu572His) c.1823T>A (p.Leu608His) c.*1800T>A (n.*1800T>A) | |
| 10 | g.49664868T>C | CA376713801 | CHAT | c.2069T>C (p.Leu690Pro) c.*906T>C (n.*906T>C) n.866T>C c.932T>C (p.Leu311Pro) c.1715T>C (p.Leu572Pro) c.1823T>C (p.Leu608Pro) c.*1800T>C (n.*1800T>C) | |
| 10 | g.49664868T>G | CA376713803 | CHAT | c.2069T>G (p.Leu690Arg) c.*906T>G (n.*906T>G) n.866T>G c.932T>G (p.Leu311Arg) c.1715T>G (p.Leu572Arg) c.1823T>G (p.Leu608Arg) c.*1800T>G (n.*1800T>G) | |
| 10 | g.49664869T>A | CA469792296 | CHAT | c.2070T>A (p.Leu690=) c.*907T>A (n.*907T>A) n.867T>A c.933T>A (p.Leu311=) c.1716T>A (p.Leu572=) c.1824T>A (p.Leu608=) c.*1801T>A (n.*1801T>A) | |
| 10 | g.49664869T>C | CA469792297 | CHAT | c.2070T>C (p.Leu690=) c.*907T>C (n.*907T>C) n.867T>C c.933T>C (p.Leu311=) c.1716T>C (p.Leu572=) c.1824T>C (p.Leu608=) c.*1801T>C (n.*1801T>C) | |
| 10 | g.49664869T>G | CA469792295 | CHAT | c.2070T>G (p.Leu690=) c.*907T>G (n.*907T>G) n.867T>G c.933T>G (p.Leu311=) c.1716T>G (p.Leu572=) c.1824T>G (p.Leu608=) c.*1801T>G (n.*1801T>G) | |
| 10 | g.49664870T>A | CA376713808 | CHAT | c.2071T>A (p.Phe691Ile) c.*908T>A (n.*908T>A) n.868T>A c.934T>A (p.Phe312Ile) c.1717T>A (p.Phe573Ile) c.1825T>A (p.Phe609Ile) c.*1802T>A (n.*1802T>A) | |
| 10 | g.49664870T>C | CA376713814 | CHAT | c.2071T>C (p.Phe691Leu) c.*908T>C (n.*908T>C) n.868T>C c.934T>C (p.Phe312Leu) c.1717T>C (p.Phe573Leu) c.1825T>C (p.Phe609Leu) c.*1802T>C (n.*1802T>C) | |
| 10 | g.49664870T>G | CA376713811 | CHAT | c.2071T>G (p.Phe691Val) c.*908T>G (n.*908T>G) n.868T>G c.934T>G (p.Phe312Val) c.1717T>G (p.Phe573Val) c.1825T>G (p.Phe609Val) c.*1802T>G (n.*1802T>G) | |
| 10 | g.49664871T>A | CA376713826 | CHAT | c.2072T>A (p.Phe691Tyr) c.*909T>A (n.*909T>A) n.869T>A c.935T>A (p.Phe312Tyr) c.1718T>A (p.Phe573Tyr) c.1826T>A (p.Phe609Tyr) c.*1803T>A (n.*1803T>A) | |
| 10 | g.49664871T>C | CA376713828 | CHAT | c.2072T>C (p.Phe691Ser) c.*909T>C (n.*909T>C) n.869T>C c.935T>C (p.Phe312Ser) c.1718T>C (p.Phe573Ser) c.1826T>C (p.Phe609Ser) c.*1803T>C (n.*1803T>C) | |
| 10 | g.49664871T>G | CA376713833 | CHAT | c.2072T>G (p.Phe691Cys) c.*909T>G (n.*909T>G) n.869T>G c.935T>G (p.Phe312Cys) c.1718T>G (p.Phe573Cys) c.1826T>G (p.Phe609Cys) c.*1803T>G (n.*1803T>G) | |
| 10 | g.49664872C>A | CA376713835 | CHAT | c.2073C>A (p.Phe691Leu) c.*910C>A (n.*910C>A) n.870C>A c.936C>A (p.Phe312Leu) c.1719C>A (p.Phe573Leu) c.1827C>A (p.Phe609Leu) c.*1804C>A (n.*1804C>A) | |
| 10 | g.49664872C>G | CA376713839 | CHAT | c.2073C>G (p.Phe691Leu) c.*910C>G (n.*910C>G) n.870C>G c.936C>G (p.Phe312Leu) c.1719C>G (p.Phe573Leu) c.1827C>G (p.Phe609Leu) c.*1804C>G (n.*1804C>G) | |
| 10 | g.49664872C>T | CA469792298 | CHAT | c.2073C>T (p.Phe691=) c.*910C>T (n.*910C>T) n.870C>T c.936C>T (p.Phe312=) c.1719C>T (p.Phe573=) c.1827C>T (p.Phe609=) c.*1804C>T (n.*1804C>T) | |
| 10 | g.49664873T>A | CA376713843 | CHAT | c.2074T>A (p.Cys692Ser) c.*911T>A (n.*911T>A) n.871T>A c.937T>A (p.Cys313Ser) c.1720T>A (p.Cys574Ser) c.1828T>A (p.Cys610Ser) c.*1805T>A (n.*1805T>A) | |
| 10 | g.49664873T>C | CA376713845 | CHAT | c.2074T>C (p.Cys692Arg) c.*911T>C (n.*911T>C) n.871T>C c.937T>C (p.Cys313Arg) c.1720T>C (p.Cys574Arg) c.1828T>C (p.Cys610Arg) c.*1805T>C (n.*1805T>C) | |
| 10 | g.49664873T>G | CA376713849 | CHAT | c.2074T>G (p.Cys692Gly) c.*911T>G (n.*911T>G) n.871T>G c.937T>G (p.Cys313Gly) c.1720T>G (p.Cys574Gly) c.1828T>G (p.Cys610Gly) c.*1805T>G (n.*1805T>G) | |
| 10 | g.49664874G>A | CA376713852 | CHAT | c.2075G>A (p.Cys692Tyr) c.*912G>A (n.*912G>A) n.872G>A c.938G>A (p.Cys313Tyr) c.1721G>A (p.Cys574Tyr) c.1829G>A (p.Cys610Tyr) c.*1806G>A (n.*1806G>A) | |
| 10 | g.49664874G>C | CA376713855 | CHAT | c.2075G>C (p.Cys692Ser) c.*912G>C (n.*912G>C) n.872G>C c.938G>C (p.Cys313Ser) c.1721G>C (p.Cys574Ser) c.1829G>C (p.Cys610Ser) c.*1806G>C (n.*1806G>C) | |
| 10 | g.49664874G>T | CA376713858 | CHAT | c.2075G>T (p.Cys692Phe) c.*912G>T (n.*912G>T) n.872G>T c.938G>T (p.Cys313Phe) c.1721G>T (p.Cys574Phe) c.1829G>T (p.Cys610Phe) c.*1806G>T (n.*1806G>T) | |
| 10 | g.49664875C>A | CA376713868 | CHAT | c.2076C>A (p.Cys692Ter) c.*913C>A (n.*913C>A) n.873C>A c.939C>A (p.Cys313Ter) c.1722C>A (p.Cys574Ter) c.1830C>A (p.Cys610Ter) c.*1807C>A (n.*1807C>A) | |
| 10 | g.49664875C= | CA1908838833 | CHAT | c.2076C= (p.Cys692=) c.*913C= (n.*913C=) n.873C= c.939C= (p.Cys313=) c.1722C= (p.Cys574=) c.1830C= (p.Cys610=) c.*1807C= (n.*1807C=) | |
| 10 | g.49664875C>G | CA376713861 | CHAT | c.2076C>G (p.Cys692Trp) c.*913C>G (n.*913C>G) n.873C>G c.939C>G (p.Cys313Trp) c.1722C>G (p.Cys574Trp) c.1830C>G (p.Cys610Trp) c.*1807C>G (n.*1807C>G) | |
| 10 | g.49664875C>T | CA5497715 | CHAT | c.2076C>T (p.Cys692=) c.*913C>T (n.*913C>T) n.873C>T c.939C>T (p.Cys313=) c.1722C>T (p.Cys574=) c.1830C>T (p.Cys610=) c.*1807C>T (n.*1807C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49664876A= | CA1908838834 | CHAT | c.2077A= (p.Ile693=) c.*914A= (n.*914A=) n.874A= c.940A= (p.Ile314=) c.1723A= (p.Ile575=) c.1831A= (p.Ile611=) c.*1808A= (n.*1808A=) | |
| 10 | g.49664876A>C | CA376713871 | CHAT | c.2077A>C (p.Ile693Leu) c.*914A>C (n.*914A>C) n.874A>C c.940A>C (p.Ile314Leu) c.1723A>C (p.Ile575Leu) c.1831A>C (p.Ile611Leu) c.*1808A>C (n.*1808A>C) | |
| 10 | g.49664876A>G | CA206624070 | CHAT | c.2077A>G (p.Ile693Val) c.*914A>G (n.*914A>G) n.874A>G c.940A>G (p.Ile314Val) c.1723A>G (p.Ile575Val) c.1831A>G (p.Ile611Val) c.*1808A>G (n.*1808A>G) | dbSNP gnomAD v4 |
| 10 | g.49664876A>T | CA376713874 | CHAT | c.2077A>T (p.Ile693Phe) c.*914A>T (n.*914A>T) n.874A>T c.940A>T (p.Ile314Phe) c.1723A>T (p.Ile575Phe) c.1831A>T (p.Ile611Phe) c.*1808A>T (n.*1808A>T) | |
| 10 | g.49664877T>A | CA376713878 | CHAT | c.2078T>A (p.Ile693Asn) c.*915T>A (n.*915T>A) n.875T>A c.941T>A (p.Ile314Asn) c.1724T>A (p.Ile575Asn) c.1832T>A (p.Ile611Asn) c.*1809T>A (n.*1809T>A) | |
| 10 | g.49664877T>C | CA376713881 | CHAT | c.2078T>C (p.Ile693Thr) c.*915T>C (n.*915T>C) n.875T>C c.941T>C (p.Ile314Thr) c.1724T>C (p.Ile575Thr) c.1832T>C (p.Ile611Thr) c.*1809T>C (n.*1809T>C) | |
| 10 | g.49664877T>G | CA376713885 | CHAT | c.2078T>G (p.Ile693Ser) c.*915T>G (n.*915T>G) n.875T>G c.941T>G (p.Ile314Ser) c.1724T>G (p.Ile575Ser) c.1832T>G (p.Ile611Ser) c.*1809T>G (n.*1809T>G) | |
| 10 | g.49664878C>A | CA469792300 | CHAT | c.2079C>A (p.Ile693=) c.*916C>A (n.*916C>A) n.876C>A c.942C>A (p.Ile314=) c.1725C>A (p.Ile575=) c.1833C>A (p.Ile611=) c.*1810C>A (n.*1810C>A) | |
| 10 | g.49664878C= | CA1908838835 | CHAT | c.2079C= (p.Ile693=) c.*916C= (n.*916C=) n.876C= c.942C= (p.Ile314=) c.1725C= (p.Ile575=) c.1833C= (p.Ile611=) c.*1810C= (n.*1810C=) | |
| 10 | g.49664878C>G | CA376713886 | CHAT | c.2079C>G (p.Ile693Met) c.*916C>G (n.*916C>G) n.876C>G c.942C>G (p.Ile314Met) c.1725C>G (p.Ile575Met) c.1833C>G (p.Ile611Met) c.*1810C>G (n.*1810C>G) | |
| 10 | g.49664878C>T | CA469792299 | CHAT | c.2079C>T (p.Ile693=) c.*916C>T (n.*916C>T) n.876C>T c.942C>T (p.Ile314=) c.1725C>T (p.Ile575=) c.1833C>T (p.Ile611=) c.*1810C>T (n.*1810C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49664879T>A | CA376713891 | CHAT | c.2080T>A (p.Ser694Thr) c.*917T>A (n.*917T>A) n.877T>A c.943T>A (p.Ser315Thr) c.1726T>A (p.Ser576Thr) c.1834T>A (p.Ser612Thr) c.*1811T>A (n.*1811T>A) | |
| 10 | g.49664879T>C | CA376713893 | CHAT | c.2080T>C (p.Ser694Pro) c.*917T>C (n.*917T>C) n.877T>C c.943T>C (p.Ser315Pro) c.1726T>C (p.Ser576Pro) c.1834T>C (p.Ser612Pro) c.*1811T>C (n.*1811T>C) | |
| 10 | g.49664879T>G | CA376713896 | CHAT | c.2080T>G (p.Ser694Ala) c.*917T>G (n.*917T>G) n.877T>G c.943T>G (p.Ser315Ala) c.1726T>G (p.Ser576Ala) c.1834T>G (p.Ser612Ala) c.*1811T>G (n.*1811T>G) | |
| 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) |