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 |
|---|---|---|---|---|---|
| 19 | g.18784963T>A | CA404878121 | COMP | c.1847A>T (p.Gln616Leu) c.1688A>T (p.Gln563Leu) c.1748A>T (p.Gln583Leu) | |
| 19 | g.18784963T>C | CA404878122 | COMP | c.1847A>G (p.Gln616Arg) c.1688A>G (p.Gln563Arg) c.1748A>G (p.Gln583Arg) | |
| 19 | g.18784963T>G | CA404878124 | COMP | c.1847A>C (p.Gln616Pro) c.1688A>C (p.Gln563Pro) c.1748A>C (p.Gln583Pro) | |
| 19 | g.18784964G>A | CA404878127 | COMP | c.1846C>T (p.Gln616Ter) c.1687C>T (p.Gln563Ter) c.1747C>T (p.Gln583Ter) | |
| 19 | g.18784964G>C | CA404878128 | COMP | c.1846C>G (p.Gln616Glu) c.1687C>G (p.Gln563Glu) c.1747C>G (p.Gln583Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18784964G= | CA2326524895 | COMP | c.1846C= (p.Gln616=) c.1687C= (p.Gln563=) c.1747C= (p.Gln583=) | |
| 19 | g.18784964G>T | CA404878129 | COMP | c.1846C>A (p.Gln616Lys) c.1687C>A (p.Gln563Lys) c.1747C>A (p.Gln583Lys) | |
| 19 | g.18784965C>A | CA404878131 | COMP | c.1845G>T (p.Lys615Asn) c.1686G>T (p.Lys562Asn) c.1746G>T (p.Lys582Asn) | |
| 19 | g.18784965C= | CA2326524896 | COMP | c.1845G= (p.Lys615=) c.1686G= (p.Lys562=) c.1746G= (p.Lys582=) | |
| 19 | g.18784965C>G | CA404878133 | COMP | c.1845G>C (p.Lys615Asn) c.1686G>C (p.Lys562Asn) c.1746G>C (p.Lys582Asn) | |
| 19 | g.18784965C>T | CA506052366 | COMP | c.1845G>A (p.Lys615=) c.1686G>A (p.Lys562=) c.1746G>A (p.Lys582=) | dbSNP gnomAD v4 |
| 19 | g.18784966T>A | CA404878137 | COMP | c.1844A>T (p.Lys615Met) c.1685A>T (p.Lys562Met) c.1745A>T (p.Lys582Met) | |
| 19 | g.18784966T>C | CA9316261 | COMP | c.1844A>G (p.Lys615Arg) c.1685A>G (p.Lys562Arg) c.1745A>G (p.Lys582Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18784966T>G | CA404878135 | COMP | c.1844A>C (p.Lys615Thr) c.1685A>C (p.Lys562Thr) c.1745A>C (p.Lys582Thr) | |
| 19 | g.18784966T= | CA2326524897 | COMP | c.1844A= (p.Lys615=) c.1685A= (p.Lys562=) c.1745A= (p.Lys582=) | |
| 19 | g.18784967T>A | CA404878142 | COMP | c.1843A>T (p.Lys615Ter) c.1684A>T (p.Lys562Ter) c.1744A>T (p.Lys582Ter) | |
| 19 | g.18784967T>C | CA404878145 | COMP | c.1843A>G (p.Lys615Glu) c.1684A>G (p.Lys562Glu) c.1744A>G (p.Lys582Glu) | dbSNP |
| 19 | g.18784967T>G | CA404878143 | COMP | c.1843A>C (p.Lys615Gln) c.1684A>C (p.Lys562Gln) c.1744A>C (p.Lys582Gln) | |
| 19 | g.18784967T= | CA2326524898 | COMP | c.1843A= (p.Lys615=) c.1684A= (p.Lys562=) c.1744A= (p.Lys582=) | |
| 19 | g.18784968C>A | CA404878148 | COMP | c.1842G>T (p.Trp614Cys) c.1683G>T (p.Trp561Cys) c.1743G>T (p.Trp581Cys) | |
| 19 | g.18784968C>G | CA404878149 | COMP | c.1842G>C (p.Trp614Cys) c.1683G>C (p.Trp561Cys) c.1743G>C (p.Trp581Cys) | |
| 19 | g.18784968C>T | CA404878151 | COMP | c.1842G>A (p.Trp614Ter) c.1683G>A (p.Trp561Ter) c.1743G>A (p.Trp581Ter) | |
| 19 | g.18784969C>A | CA404878154 | COMP | c.1841G>T (p.Trp614Leu) c.1682G>T (p.Trp561Leu) c.1742G>T (p.Trp581Leu) | |
| 19 | g.18784969C>G | CA404878155 | COMP | c.1841G>C (p.Trp614Ser) c.1682G>C (p.Trp561Ser) c.1742G>C (p.Trp581Ser) | |
| 19 | g.18784969C>T | CA404878157 | COMP | c.1841G>A (p.Trp614Ter) c.1682G>A (p.Trp561Ter) c.1742G>A (p.Trp581Ter) | |
| 19 | g.18784970A>C | CA404878159 | COMP | c.1840T>G (p.Trp614Gly) c.1681T>G (p.Trp561Gly) c.1741T>G (p.Trp581Gly) | |
| 19 | g.18784970A>G | CA404878160 | COMP | c.1840T>C (p.Trp614Arg) c.1681T>C (p.Trp561Arg) c.1741T>C (p.Trp581Arg) | |
| 19 | g.18784970A>T | CA404878162 | COMP | c.1840T>A (p.Trp614Arg) c.1681T>A (p.Trp561Arg) c.1741T>A (p.Trp581Arg) | |
| 19 | g.18784971C>A | CA404878164 | COMP | c.1839G>T (p.Met613Ile) c.1680G>T (p.Met560Ile) c.1740G>T (p.Met580Ile) | |
| 19 | g.18784971C= | CA2326524899 | COMP | c.1839G= (p.Met613=) c.1680G= (p.Met560=) c.1740G= (p.Met580=) | |
| 19 | g.18784971C>G | CA404878166 | COMP | c.1839G>C (p.Met613Ile) c.1680G>C (p.Met560Ile) c.1740G>C (p.Met580Ile) | |
| 19 | g.18784971C>T | CA404878168 | COMP | c.1839G>A (p.Met613Ile) c.1680G>A (p.Met560Ile) c.1740G>A (p.Met580Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18784972A= | CA2326524900 | COMP | c.1838T= (p.Met613=) c.1679T= (p.Met560=) c.1739T= (p.Met580=) | |
| 19 | g.18784972A>C | CA404878169 | COMP | c.1838T>G (p.Met613Arg) c.1679T>G (p.Met560Arg) c.1739T>G (p.Met580Arg) | |
| 19 | g.18784972A>G | CA404878171 | COMP | c.1838T>C (p.Met613Thr) c.1679T>C (p.Met560Thr) c.1739T>C (p.Met580Thr) | dbSNP |
| 19 | g.18784972A>T | CA404878170 | COMP | c.1838T>A (p.Met613Lys) c.1679T>A (p.Met560Lys) c.1739T>A (p.Met580Lys) | |
| 19 | g.18784973T>A | CA404878172 | COMP | c.1837A>T (p.Met613Leu) c.1678A>T (p.Met560Leu) c.1738A>T (p.Met580Leu) | |
| 19 | g.18784973T>C | CA404878173 | COMP | c.1837A>G (p.Met613Val) c.1678A>G (p.Met560Val) c.1738A>G (p.Met580Val) | |
| 19 | g.18784973T>G | CA404878174 | COMP | c.1837A>C (p.Met613Leu) c.1678A>C (p.Met560Leu) c.1738A>C (p.Met580Leu) | |
| 19 | g.18784974G>A | CA506052367 | COMP | c.1836C>T (p.Val612=) c.1677C>T (p.Val559=) c.1737C>T (p.Val579=) | |
| 19 | g.18784974G>C | CA10642486 | COMP | c.1836C>G (p.Val612=) c.1677C>G (p.Val559=) c.1737C>G (p.Val579=) | ClinVar dbSNP |
| 19 | g.18784974G= | CA2326524901 | COMP | c.1836C= (p.Val612=) c.1677C= (p.Val559=) c.1737C= (p.Val579=) | |
| 19 | g.18784974G>T | CA506052368 | COMP | c.1836C>A (p.Val612=) c.1677C>A (p.Val559=) c.1737C>A (p.Val579=) | |
| 19 | g.18784975A= | CA2326524902 | COMP | c.1835T= (p.Val612=) c.1676T= (p.Val559=) c.1736T= (p.Val579=) | |
| 19 | g.18784975A>C | CA404878176 | COMP | c.1835T>G (p.Val612Gly) c.1676T>G (p.Val559Gly) c.1736T>G (p.Val579Gly) | dbSNP |
| 19 | g.18784975A>G | CA404878179 | COMP | c.1835T>C (p.Val612Ala) c.1676T>C (p.Val559Ala) c.1736T>C (p.Val579Ala) | |
| 19 | g.18784975A>T | CA404878181 | COMP | c.1835T>A (p.Val612Asp) c.1676T>A (p.Val559Asp) c.1736T>A (p.Val579Asp) | |
| 19 | g.18784976C>A | CA404878183 | COMP | c.1834G>T (p.Val612Phe) c.1675G>T (p.Val559Phe) c.1735G>T (p.Val579Phe) | |
| 19 | g.18784976C>G | CA404878184 | COMP | c.1834G>C (p.Val612Leu) c.1675G>C (p.Val559Leu) c.1735G>C (p.Val579Leu) | gnomAD v4 |
| 19 | g.18784976C>T | CA404878185 | COMP | c.1834G>A (p.Val612Ile) c.1675G>A (p.Val559Ile) c.1735G>A (p.Val579Ile) | |
| 19 | g.18784977C>A | CA506052369 | COMP | c.1833G>T (p.Val611=) c.1674G>T (p.Val558=) c.1734G>T (p.Val578=) | |
| 19 | g.18784977C= | CA2326524903 | COMP | c.1833G= (p.Val611=) c.1674G= (p.Val558=) c.1734G= (p.Val578=) | |
| 19 | g.18784977C>G | CA506052370 | COMP | c.1833G>C (p.Val611=) c.1674G>C (p.Val558=) c.1734G>C (p.Val578=) | |
| 19 | g.18784977C>T | CA306253618 | COMP | c.1833G>A (p.Val611=) c.1674G>A (p.Val558=) c.1734G>A (p.Val578=) | dbSNP |
| 19 | g.18784978A= | CA2326524904 | COMP | c.1832T= (p.Val611=) c.1673T= (p.Val558=) c.1733T= (p.Val578=) | |
| 19 | g.18784978A>C | CA404878187 | COMP | c.1832T>G (p.Val611Gly) c.1673T>G (p.Val558Gly) c.1733T>G (p.Val578Gly) | |
| 19 | g.18784978A>G | CA404878188 | COMP | c.1832T>C (p.Val611Ala) c.1673T>C (p.Val558Ala) c.1733T>C (p.Val578Ala) | dbSNP |
| 19 | g.18784978A>T | CA404878186 | COMP | c.1832T>A (p.Val611Glu) c.1673T>A (p.Val558Glu) c.1733T>A (p.Val578Glu) | |
| 19 | g.18784979C>A | CA404878191 | COMP | c.1831G>T (p.Val611Leu) c.1672G>T (p.Val558Leu) c.1732G>T (p.Val578Leu) | |
| 19 | g.18784979C>G | CA404878195 | COMP | c.1831G>C (p.Val611Leu) c.1672G>C (p.Val558Leu) c.1732G>C (p.Val578Leu) | |
| 19 | g.18784979C>T | CA404878198 | COMP | c.1831G>A (p.Val611Met) c.1672G>A (p.Val558Met) c.1732G>A (p.Val578Met) | |
| 19 | g.18784980G>A | CA9316262 | COMP | c.1830C>T (p.Tyr610=) c.1671C>T (p.Tyr557=) c.1731C>T (p.Tyr577=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18784980G>C | CA404878202 | COMP | c.1830C>G (p.Tyr610Ter) c.1671C>G (p.Tyr557Ter) c.1731C>G (p.Tyr577Ter) | |
| 19 | g.18784980G= | CA2326524905 | COMP | c.1830C= (p.Tyr610=) c.1671C= (p.Tyr557=) c.1731C= (p.Tyr577=) | |
| 19 | g.18784980G>T | CA404878206 | COMP | c.1830C>A (p.Tyr610Ter) c.1671C>A (p.Tyr557Ter) c.1731C>A (p.Tyr577Ter) | |
| 19 | g.18784981T>A | CA9316263 | COMP | c.1829A>T (p.Tyr610Phe) c.1670A>T (p.Tyr557Phe) c.1730A>T (p.Tyr577Phe) | dbSNP ExAC gnomAD v2 |
| 19 | g.18784981T>C | CA404878213 | COMP | c.1829A>G (p.Tyr610Cys) c.1670A>G (p.Tyr557Cys) c.1730A>G (p.Tyr577Cys) | ClinVar dbSNP |
| 19 | g.18784981T>G | CA404878217 | COMP | c.1829A>C (p.Tyr610Ser) c.1670A>C (p.Tyr557Ser) c.1730A>C (p.Tyr577Ser) | |
| 19 | g.18784981T= | CA2326524906 | COMP | c.1829A= (p.Tyr610=) c.1670A= (p.Tyr557=) c.1730A= (p.Tyr577=) | |
| 19 | g.18784982A= | CA2326524907 | COMP | c.1828T= (p.Tyr610=) c.1669T= (p.Tyr557=) c.1729T= (p.Tyr577=) | |
| 19 | g.18784982A>C | CA404878220 | COMP | c.1828T>G (p.Tyr610Asp) c.1669T>G (p.Tyr557Asp) c.1729T>G (p.Tyr577Asp) | |
| 19 | g.18784982A>G | CA404878222 | COMP | c.1828T>C (p.Tyr610His) c.1669T>C (p.Tyr557His) c.1729T>C (p.Tyr577His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18784982A>T | CA404878226 | COMP | c.1828T>A (p.Tyr610Asn) c.1669T>A (p.Tyr557Asn) c.1729T>A (p.Tyr577Asn) | |
| 19 | g.18784982dup | CA2739276625 | COMP | c.1828dup (p.Tyr610LeufsTer?) c.1669dup (p.Tyr557LeufsTer?) c.1729dup (p.Tyr577LeufsTer?) | ClinVar |
| 19 | g.18784983G>A | CA506052371 | COMP | c.1827C>T (p.Phe609=) c.1668C>T (p.Phe556=) c.1728C>T (p.Phe576=) | |
| 19 | g.18784983G>C | CA404878233 | COMP | c.1827C>G (p.Phe609Leu) c.1668C>G (p.Phe556Leu) c.1728C>G (p.Phe576Leu) | |
| 19 | g.18784983G>T | CA404878235 | COMP | c.1827C>A (p.Phe609Leu) c.1668C>A (p.Phe556Leu) c.1728C>A (p.Phe576Leu) | |
| 19 | g.18784984A>C | CA404878238 | COMP | c.1826T>G (p.Phe609Cys) c.1667T>G (p.Phe556Cys) c.1727T>G (p.Phe576Cys) | |
| 19 | g.18784984A>G | CA404878245 | COMP | c.1826T>C (p.Phe609Ser) c.1667T>C (p.Phe556Ser) c.1727T>C (p.Phe576Ser) | |
| 19 | g.18784984A>T | CA404878243 | COMP | c.1826T>A (p.Phe609Tyr) c.1667T>A (p.Phe556Tyr) c.1727T>A (p.Phe576Tyr) | |
| 19 | g.18784985A= | CA2326524908 | COMP | c.1825T= (p.Phe609=) c.1666T= (p.Phe556=) c.1726T= (p.Phe576=) | |
| 19 | g.18784985A>C | CA404878251 | COMP | c.1825T>G (p.Phe609Val) c.1666T>G (p.Phe556Val) c.1726T>G (p.Phe576Val) | |
| 19 | g.18784985A>G | CA9316264 | COMP | c.1825T>C (p.Phe609Leu) c.1666T>C (p.Phe556Leu) c.1726T>C (p.Phe576Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18784985A>T | CA404878256 | COMP | c.1825T>A (p.Phe609Ile) c.1666T>A (p.Phe556Ile) c.1726T>A (p.Phe576Ile) | |
| 19 | g.18784986G>A | CA506052372 | COMP | c.1824C>T (p.Ser608=) c.1665C>T (p.Ser555=) c.1725C>T (p.Ser575=) | COSMIC |
| 19 | g.18784986G>C | CA404878261 | COMP | c.1824C>G (p.Ser608Arg) c.1665C>G (p.Ser555Arg) c.1725C>G (p.Ser575Arg) | |
| 19 | g.18784986G>T | CA404878265 | COMP | c.1824C>A (p.Ser608Arg) c.1665C>A (p.Ser555Arg) c.1725C>A (p.Ser575Arg) | |
| 19 | g.18784987C>A | CA404878269 | COMP | c.1823G>T (p.Ser608Ile) c.1664G>T (p.Ser555Ile) c.1724G>T (p.Ser575Ile) | |
| 19 | g.18784987C>G | CA404878273 | COMP | c.1823G>C (p.Ser608Thr) c.1664G>C (p.Ser555Thr) c.1724G>C (p.Ser575Thr) | |
| 19 | g.18784987C>T | CA404878283 | COMP | c.1823G>A (p.Ser608Asn) c.1664G>A (p.Ser555Asn) c.1724G>A (p.Ser575Asn) | |
| 19 | g.18784988T>A | CA404878293 | COMP | c.1822A>T (p.Ser608Cys) c.1663A>T (p.Ser555Cys) c.1723A>T (p.Ser575Cys) | |
| 19 | g.18784988T>C | CA404878295 | COMP | c.1822A>G (p.Ser608Gly) c.1663A>G (p.Ser555Gly) c.1723A>G (p.Ser575Gly) | |
| 19 | g.18784988T>G | CA404878297 | COMP | c.1822A>C (p.Ser608Arg) c.1663A>C (p.Ser555Arg) c.1723A>C (p.Ser575Arg) | |
| 19 | g.18784989G>A | CA506052373 | COMP | c.1821C>T (p.Ser607=) c.1662C>T (p.Ser554=) c.1722C>T (p.Ser574=) | |
| 19 | g.18784989G>C | CA506052374 | COMP | c.1821C>G (p.Ser607=) c.1662C>G (p.Ser554=) c.1722C>G (p.Ser574=) | |
| 19 | g.18784989G>T | CA506052375 | COMP | c.1821C>A (p.Ser607=) c.1662C>A (p.Ser554=) c.1722C>A (p.Ser574=) | |
| 19 | g.18784990G>A | CA404878302 | COMP | c.1820C>T (p.Ser607Phe) c.1661C>T (p.Ser554Phe) c.1721C>T (p.Ser574Phe) | |
| 19 | g.18784990G>C | CA404878307 | COMP | c.1820C>G (p.Ser607Cys) c.1661C>G (p.Ser554Cys) c.1721C>G (p.Ser574Cys) | |
| 19 | g.18784990G>T | CA404878304 | COMP | c.1820C>A (p.Ser607Tyr) c.1661C>A (p.Ser554Tyr) c.1721C>A (p.Ser574Tyr) | |
| 19 | g.18784991_18784992del | CA2583621577 | COMP | c.1819_1820del (p.Ser607GlnfsTer?) c.1660_1661del (p.Ser554GlnfsTer?) c.1720_1721del (p.Ser574GlnfsTer?) | gnomAD v4 |
| 19 | g.18784991A>C | CA404878311 | COMP | c.1819T>G (p.Ser607Ala) c.1660T>G (p.Ser554Ala) c.1720T>G (p.Ser574Ala) | |
| 19 | g.18784991A>G | CA404878320 | COMP | c.1819T>C (p.Ser607Pro) c.1660T>C (p.Ser554Pro) c.1720T>C (p.Ser574Pro) | |
| 19 | g.18784991A>T | CA404878317 | COMP | c.1819T>A (p.Ser607Thr) c.1660T>A (p.Ser554Thr) c.1720T>A (p.Ser574Thr) | |
| 19 | g.18784992G>A | CA506052376 | COMP | c.1818C>T (p.Ser606=) c.1659C>T (p.Ser553=) c.1719C>T (p.Ser573=) | |
| 19 | g.18784992G>C | CA404878321 | COMP | c.1818C>G (p.Ser606Arg) c.1659C>G (p.Ser553Arg) c.1719C>G (p.Ser573Arg) | |
| 19 | g.18784992G= | CA2326524909 | COMP | c.1818C= (p.Ser606=) c.1659C= (p.Ser553=) c.1719C= (p.Ser573=) | |
| 19 | g.18784992G>T | CA404878322 | COMP | c.1818C>A (p.Ser606Arg) c.1659C>A (p.Ser553Arg) c.1719C>A (p.Ser573Arg) | |
| 19 | g.18784993C>A | CA404878325 | COMP | c.1817G>T (p.Ser606Ile) c.1658G>T (p.Ser553Ile) c.1718G>T (p.Ser573Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18784993C= | CA2326524910 | COMP | c.1817G= (p.Ser606=) c.1658G= (p.Ser553=) c.1718G= (p.Ser573=) | |
| 19 | g.18784993C>G | CA404878354 | COMP | c.1817G>C (p.Ser606Thr) c.1658G>C (p.Ser553Thr) c.1718G>C (p.Ser573Thr) | |
| 19 | g.18784993C>T | CA404878339 | COMP | c.1817G>A (p.Ser606Asn) c.1658G>A (p.Ser553Asn) c.1718G>A (p.Ser573Asn) | |
| 19 | g.18784993dup | CA632626796 | COMP | c.1817dup (p.Ser606ArgfsTer?) c.1658dup (p.Ser553ArgfsTer?) c.1718dup (p.Ser573ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18784994T>A | CA404878358 | COMP | c.1816A>T (p.Ser606Cys) c.1657A>T (p.Ser553Cys) c.1717A>T (p.Ser573Cys) | gnomAD v4 |
| 19 | g.18784994T>C | CA404878359 | COMP | c.1816A>G (p.Ser606Gly) c.1657A>G (p.Ser553Gly) c.1717A>G (p.Ser573Gly) | |
| 19 | g.18784994T>G | CA404878360 | COMP | c.1816A>C (p.Ser606Arg) c.1657A>C (p.Ser553Arg) c.1717A>C (p.Ser573Arg) | |
| 19 | g.18784995G>A | CA506052379 | COMP | c.1815C>T (p.Asp605=) c.1656C>T (p.Asp552=) c.1716C>T (p.Asp572=) | gnomAD v4 |
| 19 | g.18784995G>C | CA404878365 | COMP | c.1815C>G (p.Asp605Glu) c.1656C>G (p.Asp552Glu) c.1716C>G (p.Asp572Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18784995G= | CA2326524911 | COMP | c.1815C= (p.Asp605=) c.1656C= (p.Asp552=) c.1716C= (p.Asp572=) | |
| 19 | g.18784995G>T | CA404878367 | COMP | c.1815C>A (p.Asp605Glu) c.1656C>A (p.Asp552Glu) c.1716C>A (p.Asp572Glu) | |
| 19 | g.18784996T>A | CA404878370 | COMP | c.1814A>T (p.Asp605Val) c.1655A>T (p.Asp552Val) c.1715A>T (p.Asp572Val) | |
| 19 | g.18784996T>C | CA404878373 | COMP | c.1814A>G (p.Asp605Gly) c.1655A>G (p.Asp552Gly) c.1715A>G (p.Asp572Gly) | |
| 19 | g.18784996T>G | CA404878377 | COMP | c.1814A>C (p.Asp605Ala) c.1655A>C (p.Asp552Ala) c.1715A>C (p.Asp572Ala) | |
| 19 | g.18784997C>A | CA404878380 | COMP | c.1813G>T (p.Asp605Tyr) c.1654G>T (p.Asp552Tyr) c.1714G>T (p.Asp572Tyr) | |
| 19 | g.18784997C= | CA2326524912 | COMP | c.1813G= (p.Asp605=) c.1654G= (p.Asp552=) c.1714G= (p.Asp572=) | |
| 19 | g.18784997C>G | CA404878381 | COMP | c.1813G>C (p.Asp605His) c.1654G>C (p.Asp552His) c.1714G>C (p.Asp572His) | |
| 19 | g.18784997C>T | CA344888 | COMP | c.1813G>A (p.Asp605Asn) c.1654G>A (p.Asp552Asn) c.1714G>A (p.Asp572Asn) | ClinVar dbSNP |
| 19 | g.18784998C>A | CA404878400 | COMP | c.1812G>T (p.Gln604His) c.1653G>T (p.Gln551His) c.1713G>T (p.Gln571His) | |
| 19 | g.18784998C>G | CA404878383 | COMP | c.1812G>C (p.Gln604His) c.1653G>C (p.Gln551His) c.1713G>C (p.Gln571His) | |
| 19 | g.18784998C>T | CA506052380 | COMP | c.1812G>A (p.Gln604=) c.1653G>A (p.Gln551=) c.1713G>A (p.Gln571=) | |
| 19 | g.18784999T>A | CA404878409 | COMP | c.1811A>T (p.Gln604Leu) c.1652A>T (p.Gln551Leu) c.1712A>T (p.Gln571Leu) | |
| 19 | g.18784999T>C | CA404878412 | COMP | c.1811A>G (p.Gln604Arg) c.1652A>G (p.Gln551Arg) c.1712A>G (p.Gln571Arg) | ClinVar dbSNP |
| 19 | g.18784999T>G | CA404878417 | COMP | c.1811A>C (p.Gln604Pro) c.1652A>C (p.Gln551Pro) c.1712A>C (p.Gln571Pro) | dbSNP |
| 19 | g.18784999T= | CA2326524913 | COMP | c.1811A= (p.Gln604=) c.1652A= (p.Gln551=) c.1712A= (p.Gln571=) | |
| 19 | g.18785000G>A | CA404878418 | COMP | c.1810C>T (p.Gln604Ter) c.1651C>T (p.Gln551Ter) c.1711C>T (p.Gln571Ter) | |
| 19 | g.18785000G>C | CA404878422 | COMP | c.1810C>G (p.Gln604Glu) c.1651C>G (p.Gln551Glu) c.1711C>G (p.Gln571Glu) | |
| 19 | g.18785000G>T | CA404878429 | COMP | c.1810C>A (p.Gln604Lys) c.1651C>A (p.Gln551Lys) c.1711C>A (p.Gln571Lys) | |
| 19 | g.18785001del | CA2583621578 | COMP | c.1810del (p.Gln604ArgfsTer?) c.1651del (p.Gln551ArgfsTer?) c.1711del (p.Gln571ArgfsTer?) | gnomAD v4 |
| 19 | g.18785001G>A | CA506052381 | COMP | c.1809C>T (p.Tyr603=) c.1650C>T (p.Tyr550=) c.1710C>T (p.Tyr570=) | |
| 19 | g.18785001G>C | CA404878437 | COMP | c.1809C>G (p.Tyr603Ter) c.1650C>G (p.Tyr550Ter) c.1710C>G (p.Tyr570Ter) | |
| 19 | g.18785001G>T | CA404878438 | COMP | c.1809C>A (p.Tyr603Ter) c.1650C>A (p.Tyr550Ter) c.1710C>A (p.Tyr570Ter) | |
| 19 | g.18785002T>A | CA404878442 | COMP | c.1808A>T (p.Tyr603Phe) c.1649A>T (p.Tyr550Phe) c.1709A>T (p.Tyr570Phe) | |
| 19 | g.18785002T>C | CA404878450 | COMP | c.1808A>G (p.Tyr603Cys) c.1649A>G (p.Tyr550Cys) c.1709A>G (p.Tyr570Cys) | |
| 19 | g.18785002T>G | CA404878453 | COMP | c.1808A>C (p.Tyr603Ser) c.1649A>C (p.Tyr550Ser) c.1709A>C (p.Tyr570Ser) | |
| 19 | g.18785003A= | CA2326524914 | COMP | c.1807T= (p.Tyr603=) c.1648T= (p.Tyr550=) c.1708T= (p.Tyr570=) | |
| 19 | g.18785003A>C | CA404878467 | COMP | c.1807T>G (p.Tyr603Asp) c.1648T>G (p.Tyr550Asp) c.1708T>G (p.Tyr570Asp) | |
| 19 | g.18785003A>G | CA404878462 | COMP | c.1807T>C (p.Tyr603His) c.1648T>C (p.Tyr550His) c.1708T>C (p.Tyr570His) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18785003A>T | CA404878459 | COMP | c.1807T>A (p.Tyr603Asn) c.1648T>A (p.Tyr550Asn) c.1708T>A (p.Tyr570Asn) | |
| 19 | g.18785004G>A | CA9316265 | COMP | c.1806C>T (p.Gly602=) c.1647C>T (p.Gly549=) c.1707C>T (p.Gly569=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18785004G>C | CA506052383 | COMP | c.1806C>G (p.Gly602=) c.1647C>G (p.Gly549=) c.1707C>G (p.Gly569=) | |
| 19 | g.18785004G= | CA2326524915 | COMP | c.1806C= (p.Gly602=) c.1647C= (p.Gly549=) c.1707C= (p.Gly569=) | |
| 19 | g.18785004G>T | CA506052382 | COMP | c.1806C>A (p.Gly602=) c.1647C>A (p.Gly549=) c.1707C>A (p.Gly569=) | |
| 19 | g.18785005C>A | CA404878469 | COMP | c.1805G>T (p.Gly602Val) c.1646G>T (p.Gly549Val) c.1706G>T (p.Gly569Val) | |
| 19 | g.18785005C>G | CA404878472 | COMP | c.1805G>C (p.Gly602Ala) c.1646G>C (p.Gly549Ala) c.1706G>C (p.Gly569Ala) | |
| 19 | g.18785005C>T | CA404878483 | COMP | c.1805G>A (p.Gly602Asp) c.1646G>A (p.Gly549Asp) c.1706G>A (p.Gly569Asp) | gnomAD v4 |
| 19 | g.18785006C>A | CA404878489 | COMP | c.1804G>T (p.Gly602Cys) c.1645G>T (p.Gly549Cys) c.1705G>T (p.Gly569Cys) | |
| 19 | g.18785006C>G | CA404878493 | COMP | c.1804G>C (p.Gly602Arg) c.1645G>C (p.Gly549Arg) c.1705G>C (p.Gly569Arg) | |
| 19 | g.18785006C>T | CA404878501 | COMP | c.1804G>A (p.Gly602Ser) c.1645G>A (p.Gly549Ser) c.1705G>A (p.Gly569Ser) | |
| 19 | g.18785007A= | CA2326524916 | COMP | c.1803T= (p.Phe601=) c.1644T= (p.Phe548=) c.1704T= (p.Phe568=) | |
| 19 | g.18785007A>C | CA404878502 | COMP | c.1803T>G (p.Phe601Leu) c.1644T>G (p.Phe548Leu) c.1704T>G (p.Phe568Leu) | |
| 19 | g.18785007A>G | CA9316266 | COMP | c.1803T>C (p.Phe601=) c.1644T>C (p.Phe548=) c.1704T>C (p.Phe568=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785007A>T | CA404878503 | COMP | c.1803T>A (p.Phe601Leu) c.1644T>A (p.Phe548Leu) c.1704T>A (p.Phe568Leu) | COSMIC |
| 19 | g.18785008A>C | CA404878507 | COMP | c.1802T>G (p.Phe601Cys) c.1643T>G (p.Phe548Cys) c.1703T>G (p.Phe568Cys) | |
| 19 | g.18785008A>G | CA404878509 | COMP | c.1802T>C (p.Phe601Ser) c.1643T>C (p.Phe548Ser) c.1703T>C (p.Phe568Ser) | gnomAD v4 |
| 19 | g.18785008A>T | CA404878526 | COMP | c.1802T>A (p.Phe601Tyr) c.1643T>A (p.Phe548Tyr) c.1703T>A (p.Phe568Tyr) | |
| 19 | g.18785009A>C | CA404878541 | COMP | c.1801T>G (p.Phe601Val) c.1642T>G (p.Phe548Val) c.1702T>G (p.Phe568Val) | |
| 19 | g.18785009A>G | CA404878566 | COMP | c.1801T>C (p.Phe601Leu) c.1642T>C (p.Phe548Leu) c.1702T>C (p.Phe568Leu) | |
| 19 | g.18785009A>T | CA404878562 | COMP | c.1801T>A (p.Phe601Ile) c.1642T>A (p.Phe548Ile) c.1702T>A (p.Phe568Ile) | |
| 19 | g.18785010G>A | CA9316267 | COMP | c.1800C>T (p.Ile600=) c.1641C>T (p.Ile547=) c.1701C>T (p.Ile567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18785010G>C | CA306253652 | COMP | c.1800C>G (p.Ile600Met) c.1641C>G (p.Ile547Met) c.1701C>G (p.Ile567Met) | dbSNP |
| 19 | g.18785010G= | CA2326524917 | COMP | c.1800C= (p.Ile600=) c.1641C= (p.Ile547=) c.1701C= (p.Ile567=) | |
| 19 | g.18785010G>T | CA506052385 | COMP | c.1800C>A (p.Ile600=) c.1641C>A (p.Ile547=) c.1701C>A (p.Ile567=) | |
| 19 | g.18785011A>C | CA404878579 | COMP | c.1799T>G (p.Ile600Ser) c.1640T>G (p.Ile547Ser) c.1700T>G (p.Ile567Ser) | |
| 19 | g.18785011A>G | CA404878584 | COMP | c.1799T>C (p.Ile600Thr) c.1640T>C (p.Ile547Thr) c.1700T>C (p.Ile567Thr) | dbSNP gnomAD v4 |
| 19 | g.18785011A>T | CA404878585 | COMP | c.1799T>A (p.Ile600Asn) c.1640T>A (p.Ile547Asn) c.1700T>A (p.Ile567Asn) | |
| 19 | g.18785012T>A | CA404878586 | COMP | c.1798A>T (p.Ile600Phe) c.1639A>T (p.Ile547Phe) c.1699A>T (p.Ile567Phe) | |
| 19 | g.18785012T>C | CA404878587 | COMP | c.1798A>G (p.Ile600Val) c.1639A>G (p.Ile547Val) c.1699A>G (p.Ile567Val) | |
| 19 | g.18785012T>G | CA404878589 | COMP | c.1798A>C (p.Ile600Leu) c.1639A>C (p.Ile547Leu) c.1699A>C (p.Ile567Leu) | |
| 19 | g.18785013G>A | CA506052389 | COMP | c.1797C>T (p.Phe599=) c.1638C>T (p.Phe546=) c.1698C>T (p.Phe566=) | |
| 19 | g.18785013G>C | CA404878595 | COMP | c.1797C>G (p.Phe599Leu) c.1638C>G (p.Phe546Leu) c.1698C>G (p.Phe566Leu) | |
| 19 | g.18785013G>T | CA404878610 | COMP | c.1797C>A (p.Phe599Leu) c.1638C>A (p.Phe546Leu) c.1698C>A (p.Phe566Leu) | |
| 19 | g.18785014A>C | CA404878616 | COMP | c.1796T>G (p.Phe599Cys) c.1637T>G (p.Phe546Cys) c.1697T>G (p.Phe566Cys) | |
| 19 | g.18785014A>G | CA404878620 | COMP | c.1796T>C (p.Phe599Ser) c.1637T>C (p.Phe546Ser) c.1697T>C (p.Phe566Ser) | |
| 19 | g.18785014A>T | CA404878614 | COMP | c.1796T>A (p.Phe599Tyr) c.1637T>A (p.Phe546Tyr) c.1697T>A (p.Phe566Tyr) | |
| 19 | g.18785015A>C | CA404878624 | COMP | c.1795T>G (p.Phe599Val) c.1636T>G (p.Phe546Val) c.1696T>G (p.Phe566Val) | |
| 19 | g.18785015A>G | CA404878625 | COMP | c.1795T>C (p.Phe599Leu) c.1636T>C (p.Phe546Leu) c.1696T>C (p.Phe566Leu) | |
| 19 | g.18785015A>T | CA404878626 | COMP | c.1795T>A (p.Phe599Ile) c.1636T>A (p.Phe546Ile) c.1696T>A (p.Phe566Ile) | |
| 19 | g.18785016G>A | CA506052394 | COMP | c.1794C>T (p.Gly598=) c.1635C>T (p.Gly545=) c.1695C>T (p.Gly565=) | gnomAD v4 |
| 19 | g.18785016G>C | CA506052395 | COMP | c.1794C>G (p.Gly598=) c.1635C>G (p.Gly545=) c.1695C>G (p.Gly565=) | gnomAD v4 |
| 19 | g.18785016G>T | CA506052396 | COMP | c.1794C>A (p.Gly598=) c.1635C>A (p.Gly545=) c.1695C>A (p.Gly565=) | |
| 19 | g.18785017C>A | CA404878629 | COMP | c.1793G>T (p.Gly598Val) c.1634G>T (p.Gly545Val) c.1694G>T (p.Gly565Val) | |
| 19 | g.18785017C>G | CA404878632 | COMP | c.1793G>C (p.Gly598Ala) c.1634G>C (p.Gly545Ala) c.1694G>C (p.Gly565Ala) | |
| 19 | g.18785017C>T | CA404878636 | COMP | c.1793G>A (p.Gly598Asp) c.1634G>A (p.Gly545Asp) c.1694G>A (p.Gly565Asp) | ClinVar |
| 19 | g.18785019dup | CA2583621579 | COMP | c.1793dup (p.Phe599LeufsTer?) c.1634dup (p.Phe546LeufsTer?) c.1694dup (p.Phe566LeufsTer?) | gnomAD v4 |
| 19 | g.18785018C>A | CA404878647 | COMP | c.1792G>T (p.Gly598Cys) c.1633G>T (p.Gly545Cys) c.1693G>T (p.Gly565Cys) | |
| 19 | g.18785018C= | CA2326524918 | COMP | c.1792G= (p.Gly598=) c.1633G= (p.Gly545=) c.1693G= (p.Gly565=) | |
| 19 | g.18785018C>G | CA404878651 | COMP | c.1792G>C (p.Gly598Arg) c.1633G>C (p.Gly545Arg) c.1693G>C (p.Gly565Arg) | |
| 19 | g.18785018C>T | CA404878659 | COMP | c.1792G>A (p.Gly598Ser) c.1633G>A (p.Gly545Ser) c.1693G>A (p.Gly565Ser) | dbSNP |
| 19 | g.18785019C>A | CA506052400 | COMP | c.1791G>T (p.Ala597=) c.1632G>T (p.Ala544=) c.1692G>T (p.Ala564=) | gnomAD v4 |
| 19 | g.18785019C= | CA2326524919 | COMP | c.1791G= (p.Ala597=) c.1632G= (p.Ala544=) c.1692G= (p.Ala564=) | |
| 19 | g.18785019C>G | CA506052401 | COMP | c.1791G>C (p.Ala597=) c.1632G>C (p.Ala544=) c.1692G>C (p.Ala564=) | |
| 19 | g.18785019C>T | CA506052405 | COMP | c.1791G>A (p.Ala597=) c.1632G>A (p.Ala544=) c.1692G>A (p.Ala564=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18785020G>A | CA404878663 | COMP | c.1790C>T (p.Ala597Val) c.1631C>T (p.Ala544Val) c.1691C>T (p.Ala564Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785020G>C | CA404878669 | COMP | c.1790C>G (p.Ala597Gly) c.1631C>G (p.Ala544Gly) c.1691C>G (p.Ala564Gly) | |
| 19 | g.18785020G= | CA2326524920 | COMP | c.1790C= (p.Ala597=) c.1631C= (p.Ala544=) c.1691C= (p.Ala564=) | |
| 19 | g.18785020G>T | CA404878671 | COMP | c.1790C>A (p.Ala597Glu) c.1631C>A (p.Ala544Glu) c.1691C>A (p.Ala564Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18785021C>A | CA404878689 | COMP | c.1789G>T (p.Ala597Ser) c.1630G>T (p.Ala544Ser) c.1690G>T (p.Ala564Ser) | |
| 19 | g.18785021C>G | CA404878687 | COMP | c.1789G>C (p.Ala597Pro) c.1630G>C (p.Ala544Pro) c.1690G>C (p.Ala564Pro) | |
| 19 | g.18785021C>T | CA404878680 | COMP | c.1789G>A (p.Ala597Thr) c.1630G>A (p.Ala544Thr) c.1690G>A (p.Ala564Thr) | gnomAD v4 |
| 19 | g.18785022A= | CA2326524921 | COMP | c.1788T= (p.Tyr596=) c.1629T= (p.Tyr543=) c.1689T= (p.Tyr563=) | |
| 19 | g.18785022A>C | CA404878693 | COMP | c.1788T>G (p.Tyr596Ter) c.1629T>G (p.Tyr543Ter) c.1689T>G (p.Tyr563Ter) | gnomAD v4 |
| 19 | g.18785022A>G | CA9316268 | COMP | c.1788T>C (p.Tyr596=) c.1629T>C (p.Tyr543=) c.1689T>C (p.Tyr563=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18785022A>T | CA404878711 | COMP | c.1788T>A (p.Tyr596Ter) c.1629T>A (p.Tyr543Ter) c.1689T>A (p.Tyr563Ter) | |
| 19 | g.18785023T>A | CA404878716 | COMP | c.1787A>T (p.Tyr596Phe) c.1628A>T (p.Tyr543Phe) c.1688A>T (p.Tyr563Phe) | |
| 19 | g.18785023T>C | CA404878717 | COMP | c.1787A>G (p.Tyr596Cys) c.1628A>G (p.Tyr543Cys) c.1688A>G (p.Tyr563Cys) | |
| 19 | g.18785023T>G | CA404878718 | COMP | c.1787A>C (p.Tyr596Ser) c.1628A>C (p.Tyr543Ser) c.1688A>C (p.Tyr563Ser) | |
| 19 | g.18785024A>C | CA404878723 | COMP | c.1786T>G (p.Tyr596Asp) c.1627T>G (p.Tyr543Asp) c.1687T>G (p.Tyr563Asp) | gnomAD v4 |
| 19 | g.18785024A>G | CA404878730 | COMP | c.1786T>C (p.Tyr596His) c.1627T>C (p.Tyr543His) c.1687T>C (p.Tyr563His) | gnomAD v4 |
| 19 | g.18785024A>T | CA404878736 | COMP | c.1786T>A (p.Tyr596Asn) c.1627T>A (p.Tyr543Asn) c.1687T>A (p.Tyr563Asn) | |
| 19 | g.18785025G>A | CA506052413 | COMP | c.1785C>T (p.Asp595=) c.1626C>T (p.Asp542=) c.1686C>T (p.Asp562=) | |
| 19 | g.18785025G>C | CA404878741 | COMP | c.1785C>G (p.Asp595Glu) c.1626C>G (p.Asp542Glu) c.1686C>G (p.Asp562Glu) | |
| 19 | g.18785025G>T | CA404878742 | COMP | c.1785C>A (p.Asp595Glu) c.1626C>A (p.Asp542Glu) c.1686C>A (p.Asp562Glu) | |
| 19 | g.18785026T>A | CA404878743 | COMP | c.1784A>T (p.Asp595Val) c.1625A>T (p.Asp542Val) c.1685A>T (p.Asp562Val) | |
| 19 | g.18785026T>C | CA404878746 | COMP | c.1784A>G (p.Asp595Gly) c.1625A>G (p.Asp542Gly) c.1685A>G (p.Asp562Gly) | |
| 19 | g.18785026T>G | CA404878749 | COMP | c.1784A>C (p.Asp595Ala) c.1625A>C (p.Asp542Ala) c.1685A>C (p.Asp562Ala) | |
| 19 | g.18785027C>A | CA404878778 | COMP | c.1783G>T (p.Asp595Tyr) c.1624G>T (p.Asp542Tyr) c.1684G>T (p.Asp562Tyr) | gnomAD v4 COSMIC |
| 19 | g.18785027C= | CA2326524922 | COMP | c.1783G= (p.Asp595=) c.1624G= (p.Asp542=) c.1684G= (p.Asp562=) | |
| 19 | g.18785027C>G | CA404878779 | COMP | c.1783G>C (p.Asp595His) c.1624G>C (p.Asp542His) c.1684G>C (p.Asp562His) | |
| 19 | g.18785027C>T | CA404878759 | COMP | c.1783G>A (p.Asp595Asn) c.1624G>A (p.Asp542Asn) c.1684G>A (p.Asp562Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.18785028G>A | CA9316269 | COMP | c.1782C>T (p.Asp594=) c.1623C>T (p.Asp541=) c.1683C>T (p.Asp561=) | dbSNP ExAC gnomAD v4 |
| 19 | g.18785028G>C | CA404878783 | COMP | c.1782C>G (p.Asp594Glu) c.1623C>G (p.Asp541Glu) c.1683C>G (p.Asp561Glu) | gnomAD v4 |
| 19 | g.18785028G= | CA2326524923 | COMP | c.1782C= (p.Asp594=) c.1623C= (p.Asp541=) c.1683C= (p.Asp561=) | |
| 19 | g.18785028G>T | CA404878785 | COMP | c.1782C>A (p.Asp594Glu) c.1623C>A (p.Asp541Glu) c.1683C>A (p.Asp561Glu) | |
| 19 | g.18785029T>A | CA404878791 | COMP | c.1781A>T (p.Asp594Val) c.1622A>T (p.Asp541Val) c.1682A>T (p.Asp561Val) | |
| 19 | g.18785029T>C | CA404878794 | COMP | c.1781A>G (p.Asp594Gly) c.1622A>G (p.Asp541Gly) c.1682A>G (p.Asp561Gly) | |
| 19 | g.18785029T>G | CA404878800 | COMP | c.1781A>C (p.Asp594Ala) c.1622A>C (p.Asp541Ala) c.1682A>C (p.Asp561Ala) | |
| 19 | g.18785030C>A | CA404878806 | COMP | c.1780G>T (p.Asp594Tyr) c.1621G>T (p.Asp541Tyr) c.1681G>T (p.Asp561Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18785030C= | CA2326524924 | COMP | c.1780G= (p.Asp594=) c.1621G= (p.Asp541=) c.1681G= (p.Asp561=) | |
| 19 | g.18785030C>G | CA404878810 | COMP | c.1780G>C (p.Asp594His) c.1621G>C (p.Asp541His) c.1681G>C (p.Asp561His) | |
| 19 | g.18785030C>T | CA404878811 | COMP | c.1780G>A (p.Asp594Asn) c.1621G>A (p.Asp541Asn) c.1681G>A (p.Asp561Asn) | gnomAD v4 |
| 19 | g.18785031A>C | CA404878813 | COMP | c.1779T>G (p.Asp593Glu) c.1620T>G (p.Asp540Glu) c.1680T>G (p.Asp560Glu) | |
| 19 | g.18785031A>G | CA506052420 | COMP | c.1779T>C (p.Asp593=) c.1620T>C (p.Asp540=) c.1680T>C (p.Asp560=) | gnomAD v4 |
| 19 | g.18785031A>T | CA404878816 | COMP | c.1779T>A (p.Asp593Glu) c.1620T>A (p.Asp540Glu) c.1680T>A (p.Asp560Glu) | |
| 19 | g.18785032T>A | CA404878834 | COMP | c.1778A>T (p.Asp593Val) c.1619A>T (p.Asp540Val) c.1679A>T (p.Asp560Val) | |
| 19 | g.18785032T>C | CA404878831 | COMP | c.1778A>G (p.Asp593Gly) c.1619A>G (p.Asp540Gly) c.1679A>G (p.Asp560Gly) | gnomAD v4 |
| 19 | g.18785032T>G | CA404878828 | COMP | c.1778A>C (p.Asp593Ala) c.1619A>C (p.Asp540Ala) c.1679A>C (p.Asp560Ala) | |
| 19 | g.18785033C>A | CA404878838 | COMP | c.1777G>T (p.Asp593Tyr) c.1618G>T (p.Asp540Tyr) c.1678G>T (p.Asp560Tyr) | |
| 19 | g.18785033C>G | CA404878842 | COMP | c.1777G>C (p.Asp593His) c.1618G>C (p.Asp540His) c.1678G>C (p.Asp560His) | |
| 19 | g.18785033C>T | CA404878845 | COMP | c.1777G>A (p.Asp593Asn) c.1618G>A (p.Asp540Asn) c.1678G>A (p.Asp560Asn) | |
| 19 | g.18785034C>A | CA506052421 | COMP | c.1776G>T (p.Thr592=) c.1617G>T (p.Thr539=) c.1677G>T (p.Thr559=) | |
| 19 | g.18785034C= | CA2326524925 | COMP | c.1776G= (p.Thr592=) c.1617G= (p.Thr539=) c.1677G= (p.Thr559=) | |
| 19 | g.18785034C>G | CA506052422 | COMP | c.1776G>C (p.Thr592=) c.1617G>C (p.Thr539=) c.1677G>C (p.Thr559=) | |
| 19 | g.18785034C>T | CA9316270 | COMP | c.1776G>A (p.Thr592=) c.1617G>A (p.Thr539=) c.1677G>A (p.Thr559=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785035G>A | CA404878846 | COMP | c.1775C>T (p.Thr592Met) c.1616C>T (p.Thr539Met) c.1676C>T (p.Thr559Met) | ClinVar |
| 19 | g.18785035G>C | CA404878848 | COMP | c.1775C>G (p.Thr592Arg) c.1616C>G (p.Thr539Arg) c.1676C>G (p.Thr559Arg) | ClinVar |
| 19 | g.18785035G>T | CA404878850 | COMP | c.1775C>A (p.Thr592Lys) c.1616C>A (p.Thr539Lys) c.1676C>A (p.Thr559Lys) | |
| 19 | g.18785036T>A | CA404878853 | COMP | c.1774A>T (p.Thr592Ser) c.1615A>T (p.Thr539Ser) c.1675A>T (p.Thr559Ser) | |
| 19 | g.18785036T>C | CA404878859 | COMP | c.1774A>G (p.Thr592Ala) c.1615A>G (p.Thr539Ala) c.1675A>G (p.Thr559Ala) | |
| 19 | g.18785036T>G | CA404878861 | COMP | c.1774A>C (p.Thr592Pro) c.1615A>C (p.Thr539Pro) c.1675A>C (p.Thr559Pro) | |
| 19 | g.18785037G>A | CA506052424 | COMP | c.1773C>T (p.Val591=) c.1614C>T (p.Val538=) c.1674C>T (p.Val558=) | |
| 19 | g.18785037G>C | CA506052426 | COMP | c.1773C>G (p.Val591=) c.1614C>G (p.Val538=) c.1674C>G (p.Val558=) | gnomAD v4 |
| 19 | g.18785037G>T | CA506052425 | COMP | c.1773C>A (p.Val591=) c.1614C>A (p.Val538=) c.1674C>A (p.Val558=) | |
| 19 | g.18785038A>C | CA404878864 | COMP | c.1772T>G (p.Val591Gly) c.1613T>G (p.Val538Gly) c.1673T>G (p.Val558Gly) | |
| 19 | g.18785038A>G | CA404878865 | COMP | c.1772T>C (p.Val591Ala) c.1613T>C (p.Val538Ala) c.1673T>C (p.Val558Ala) | |
| 19 | g.18785038A>T | CA404878867 | COMP | c.1772T>A (p.Val591Asp) c.1613T>A (p.Val538Asp) c.1673T>A (p.Val558Asp) | |
| 19 | g.18785039C>A | CA404878870 | COMP | c.1771G>T (p.Val591Phe) c.1612G>T (p.Val538Phe) c.1672G>T (p.Val558Phe) | |
| 19 | g.18785039C= | CA2326524926 | COMP | c.1771G= (p.Val591=) c.1612G= (p.Val538=) c.1672G= (p.Val558=) | |
| 19 | g.18785039C>G | CA404878872 | COMP | c.1771G>C (p.Val591Leu) c.1612G>C (p.Val538Leu) c.1672G>C (p.Val558Leu) | |
| 19 | g.18785039C>T | CA9316271 | COMP | c.1771G>A (p.Val591Ile) c.1612G>A (p.Val538Ile) c.1672G>A (p.Val558Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785040C>A | CA506052428 | COMP | c.1770G>T (p.Thr590=) c.1611G>T (p.Thr537=) c.1671G>T (p.Thr557=) | |
| 19 | g.18785040C= | CA2326524927 | COMP | c.1770G= (p.Thr590=) c.1611G= (p.Thr537=) c.1671G= (p.Thr557=) | |
| 19 | g.18785040C>G | CA506052429 | COMP | c.1770G>C (p.Thr590=) c.1611G>C (p.Thr537=) c.1671G>C (p.Thr557=) | dbSNP |
| 19 | g.18785040C>T | CA9316272 | COMP | c.1770G>A (p.Thr590=) c.1611G>A (p.Thr537=) c.1671G>A (p.Thr557=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785041G>A | CA9316273 | COMP | c.1769C>T (p.Thr590Met) c.1610C>T (p.Thr537Met) c.1670C>T (p.Thr557Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.18785041G>C | CA404878878 | COMP | c.1769C>G (p.Thr590Arg) c.1610C>G (p.Thr537Arg) c.1670C>G (p.Thr557Arg) | |
| 19 | g.18785041G= | CA2326524928 | COMP | c.1769C= (p.Thr590=) c.1610C= (p.Thr537=) c.1670C= (p.Thr557=) | |
| 19 | g.18785041G>T | CA404878881 | COMP | c.1769C>A (p.Thr590Lys) c.1610C>A (p.Thr537Lys) c.1670C>A (p.Thr557Lys) | |
| 19 | g.18785042T>A | CA404878889 | COMP | c.1768A>T (p.Thr590Ser) c.1609A>T (p.Thr537Ser) c.1669A>T (p.Thr557Ser) | gnomAD v4 |
| 19 | g.18785042T>C | CA404878892 | COMP | c.1768A>G (p.Thr590Ala) c.1609A>G (p.Thr537Ala) c.1669A>G (p.Thr557Ala) | gnomAD v4 |
| 19 | g.18785042T>G | CA404878895 | COMP | c.1768A>C (p.Thr590Pro) c.1609A>C (p.Thr537Pro) c.1669A>C (p.Thr557Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.18785042T= | CA2326524929 | COMP | c.1768A= (p.Thr590=) c.1609A= (p.Thr537=) c.1669A= (p.Thr557=) | |
| 19 | g.18785043G>A | CA506052431 | COMP | c.1767C>T (p.Asn589=) c.1608C>T (p.Asn536=) c.1668C>T (p.Asn556=) | gnomAD v4 |
| 19 | g.18785043G>C | CA404878905 | COMP | c.1767C>G (p.Asn589Lys) c.1608C>G (p.Asn536Lys) c.1668C>G (p.Asn556Lys) | |
| 19 | g.18785043G= | CA2326524930 | COMP | c.1767C= (p.Asn589=) c.1608C= (p.Asn536=) c.1668C= (p.Asn556=) | |
| 19 | g.18785043G>T | CA306253686 | COMP | c.1767C>A (p.Asn589Lys) c.1608C>A (p.Asn536Lys) c.1668C>A (p.Asn556Lys) | dbSNP gnomAD v4 |
| 19 | g.18785044T>A | CA404878907 | COMP | c.1766A>T (p.Asn589Ile) c.1607A>T (p.Asn536Ile) c.1667A>T (p.Asn556Ile) | |
| 19 | g.18785044T>C | CA404878910 | COMP | c.1766A>G (p.Asn589Ser) c.1607A>G (p.Asn536Ser) c.1667A>G (p.Asn556Ser) | |
| 19 | g.18785044T>G | CA404878912 | COMP | c.1766A>C (p.Asn589Thr) c.1607A>C (p.Asn536Thr) c.1667A>C (p.Asn556Thr) | gnomAD v4 |
| 19 | g.18785045T>A | CA404878917 | COMP | c.1765A>T (p.Asn589Tyr) c.1606A>T (p.Asn536Tyr) c.1666A>T (p.Asn556Tyr) | |
| 19 | g.18785045T>C | CA404878922 | COMP | c.1765A>G (p.Asn589Asp) c.1606A>G (p.Asn536Asp) c.1666A>G (p.Asn556Asp) | |
| 19 | g.18785045T>G | CA404878931 | COMP | c.1765A>C (p.Asn589His) c.1606A>C (p.Asn536His) c.1666A>C (p.Asn556His) | gnomAD v4 |
| 19 | g.18785046C>A | CA506052437 | COMP | c.1764G>T (p.Val588=) c.1605G>T (p.Val535=) c.1665G>T (p.Val555=) | |
| 19 | g.18785046C>G | CA506052435 | COMP | c.1764G>C (p.Val588=) c.1605G>C (p.Val535=) c.1665G>C (p.Val555=) | |
| 19 | g.18785046C>T | CA506052436 | COMP | c.1764G>A (p.Val588=) c.1605G>A (p.Val535=) c.1665G>A (p.Val555=) | |
| 19 | g.18785047A>C | CA404878945 | COMP | c.1763T>G (p.Val588Gly) c.1604T>G (p.Val535Gly) c.1664T>G (p.Val555Gly) | |
| 19 | g.18785047A>G | CA404878935 | COMP | c.1763T>C (p.Val588Ala) c.1604T>C (p.Val535Ala) c.1664T>C (p.Val555Ala) | gnomAD v4 |
| 19 | g.18785047A>T | CA404878942 | COMP | c.1763T>A (p.Val588Glu) c.1604T>A (p.Val535Glu) c.1664T>A (p.Val555Glu) | |
| 19 | g.18785048C>A | CA404878947 | COMP | c.1762G>T (p.Val588Leu) c.1603G>T (p.Val535Leu) c.1663G>T (p.Val555Leu) | gnomAD v4 |
| 19 | g.18785048C= | CA2326524931 | COMP | c.1762G= (p.Val588=) c.1603G= (p.Val535=) c.1663G= (p.Val555=) | |
| 19 | g.18785048C>G | CA404878948 | COMP | c.1762G>C (p.Val588Leu) c.1603G>C (p.Val535Leu) c.1663G>C (p.Val555Leu) | |
| 19 | g.18785048C>T | CA404878949 | COMP | c.1762G>A (p.Val588Met) c.1603G>A (p.Val535Met) c.1663G>A (p.Val555Met) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.18785049A>C | CA404878951 | COMP | c.1761T>G (p.His587Gln) c.1602T>G (p.His534Gln) c.1662T>G (p.His554Gln) | |
| 19 | g.18785049A>G | CA506052439 | COMP | c.1761T>C (p.His587=) c.1602T>C (p.His534=) c.1662T>C (p.His554=) | |
| 19 | g.18785049A>T | CA404878973 | COMP | c.1761T>A (p.His587Gln) c.1602T>A (p.His534Gln) c.1662T>A (p.His554Gln) | |
| 19 | g.18785050T>A | CA404878978 | COMP | c.1760A>T (p.His587Leu) c.1601A>T (p.His534Leu) c.1661A>T (p.His554Leu) | ClinVar |
| 19 | g.18785050T>C | CA343862 | COMP | c.1760A>G (p.His587Arg) c.1601A>G (p.His534Arg) c.1661A>G (p.His554Arg) | ClinVar dbSNP |
| 19 | g.18785050T>G | CA404878985 | COMP | c.1760A>C (p.His587Pro) c.1601A>C (p.His534Pro) c.1661A>C (p.His554Pro) | |
| 19 | g.18785050T= | CA2326524932 | COMP | c.1760A= (p.His587=) c.1601A= (p.His534=) c.1661A= (p.His554=) | |
| 19 | g.18785051G>A | CA404878989 | COMP | c.1759C>T (p.His587Tyr) c.1600C>T (p.His534Tyr) c.1660C>T (p.His554Tyr) | |
| 19 | g.18785051G>C | CA404878993 | COMP | c.1759C>G (p.His587Asp) c.1600C>G (p.His534Asp) c.1660C>G (p.His554Asp) | |
| 19 | g.18785051G>T | CA404878996 | COMP | c.1759C>A (p.His587Asn) c.1600C>A (p.His534Asn) c.1660C>A (p.His554Asn) | |
| 19 | g.18785052G>A | CA506052440 | COMP | c.1758C>T (p.Phe586=) c.1599C>T (p.Phe533=) c.1659C>T (p.Phe553=) | ClinVar |
| 19 | g.18785052G>C | CA404878998 | COMP | c.1758C>G (p.Phe586Leu) c.1599C>G (p.Phe533Leu) c.1659C>G (p.Phe553Leu) | |
| 19 | g.18785052G>T | CA404878999 | COMP | c.1758C>A (p.Phe586Leu) c.1599C>A (p.Phe533Leu) c.1659C>A (p.Phe553Leu) | |
| 19 | g.18785053A>C | CA404879003 | COMP | c.1757T>G (p.Phe586Cys) c.1598T>G (p.Phe533Cys) c.1658T>G (p.Phe553Cys) | |
| 19 | g.18785053A>G | CA404879005 | COMP | c.1757T>C (p.Phe586Ser) c.1598T>C (p.Phe533Ser) c.1658T>C (p.Phe553Ser) | |
| 19 | g.18785053A>T | CA404879004 | COMP | c.1757T>A (p.Phe586Tyr) c.1598T>A (p.Phe533Tyr) c.1658T>A (p.Phe553Tyr) | |
| 19 | g.18785054A>C | CA404879006 | COMP | c.1756T>G (p.Phe586Val) c.1597T>G (p.Phe533Val) c.1657T>G (p.Phe553Val) | |
| 19 | g.18785054A>G | CA404879009 | COMP | c.1756T>C (p.Phe586Leu) c.1597T>C (p.Phe533Leu) c.1657T>C (p.Phe553Leu) | |
| 19 | g.18785054A>T | CA404879012 | COMP | c.1756T>A (p.Phe586Ile) c.1597T>A (p.Phe533Ile) c.1657T>A (p.Phe553Ile) | |
| 19 | g.18785055C>A | CA10587298 | COMP | c.1755G>T (p.Thr585=) c.1596G>T (p.Thr532=) c.1656G>T (p.Thr552=) | ClinVar dbSNP |
| 19 | g.18785055C= | CA2326524933 | COMP | c.1755G= (p.Thr585=) c.1596G= (p.Thr532=) c.1656G= (p.Thr552=) | |
| 19 | g.18785055C>G | CA506052443 | COMP | c.1755G>C (p.Thr585=) c.1596G>C (p.Thr532=) c.1656G>C (p.Thr552=) | |
| 19 | g.18785055C>T | CA9316274 | COMP | c.1755G>A (p.Thr585=) c.1596G>A (p.Thr532=) c.1656G>A (p.Thr552=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785056G>A | CA343861 | COMP | c.1754C>T (p.Thr585Met) c.1595C>T (p.Thr532Met) c.1655C>T (p.Thr552Met) | ClinVar dbSNP |
| 19 | g.18785056G>C | CA343860 | COMP | c.1754C>G (p.Thr585Arg) c.1595C>G (p.Thr532Arg) c.1655C>G (p.Thr552Arg) | ClinVar dbSNP |
| 19 | g.18785056G= | CA2326524934 | COMP | c.1754C= (p.Thr585=) c.1595C= (p.Thr532=) c.1655C= (p.Thr552=) | |
| 19 | g.18785056G>T | CA343858 | COMP | c.1754C>A (p.Thr585Lys) c.1595C>A (p.Thr532Lys) c.1655C>A (p.Thr552Lys) | ClinVar dbSNP |
| 19 | g.18785057T>A | CA404879045 | COMP | c.1753A>T (p.Thr585Ser) c.1594A>T (p.Thr532Ser) c.1654A>T (p.Thr552Ser) | |
| 19 | g.18785057T>C | CA404879046 | COMP | c.1753A>G (p.Thr585Ala) c.1594A>G (p.Thr532Ala) c.1654A>G (p.Thr552Ala) | dbSNP gnomAD v4 |
| 19 | g.18785057T>G | CA404879051 | COMP | c.1753A>C (p.Thr585Pro) c.1594A>C (p.Thr532Pro) c.1654A>C (p.Thr552Pro) | |
| 19 | g.18785057T= | CA2326524935 | COMP | c.1753A= (p.Thr585=) c.1594A= (p.Thr532=) c.1654A= (p.Thr552=) | |
| 19 | g.18785058G>A | CA306253730 | COMP | c.1752C>T (p.Gly584=) c.1593C>T (p.Gly531=) c.1653C>T (p.Gly551=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.18785058G>C | CA506052446 | COMP | c.1752C>G (p.Gly584=) c.1593C>G (p.Gly531=) c.1653C>G (p.Gly551=) | |
| 19 | g.18785058G= | CA2326524936 | COMP | c.1752C= (p.Gly584=) c.1593C= (p.Gly531=) c.1653C= (p.Gly551=) | |
| 19 | g.18785058G>T | CA506052447 | COMP | c.1752C>A (p.Gly584=) c.1593C>A (p.Gly531=) c.1653C>A (p.Gly551=) | gnomAD v4 |
| 19 | g.18785058_18785066delinsGCCCTCGAA | CA2326524937 | COMP | c.1744_1752delinsTTCGAGGGC (p.Phe582=) c.1585_1593delinsTTCGAGGGC (p.Phe529=) c.1645_1653delinsTTCGAGGGC (p.Phe549=) | |
| 19 | g.18785059C>A | CA404879057 | COMP | c.1751G>T (p.Gly584Val) c.1592G>T (p.Gly531Val) c.1652G>T (p.Gly551Val) | |
| 19 | g.18785059C>G | CA404879060 | COMP | c.1751G>C (p.Gly584Ala) c.1592G>C (p.Gly531Ala) c.1652G>C (p.Gly551Ala) | |
| 19 | g.18785059C>T | CA404879070 | COMP | c.1751G>A (p.Gly584Asp) c.1592G>A (p.Gly531Asp) c.1652G>A (p.Gly551Asp) | gnomAD v4 |
| 19 | g.18785059_18785066del | CA2326524938 | COMP | c.1744_1751del (p.Phe582HisfsTer10) c.1585_1592del (p.Phe529HisfsTer10) c.1645_1652del (p.Phe549HisfsTer10) | dbSNP |
| 19 | g.18785060C>A | CA404879076 | COMP | c.1750G>T (p.Gly584Cys) c.1591G>T (p.Gly531Cys) c.1651G>T (p.Gly551Cys) | |
| 19 | g.18785060C>G | CA404879095 | COMP | c.1750G>C (p.Gly584Arg) c.1591G>C (p.Gly531Arg) c.1651G>C (p.Gly551Arg) | gnomAD v4 |
| 19 | g.18785060C>T | CA404879079 | COMP | c.1750G>A (p.Gly584Ser) c.1591G>A (p.Gly531Ser) c.1651G>A (p.Gly551Ser) | |
| 19 | g.18785061C>A | CA404879102 | COMP | c.1749G>T (p.Glu583Asp) c.1590G>T (p.Glu530Asp) c.1650G>T (p.Glu550Asp) | |
| 19 | g.18785061C= | CA2326524939 | COMP | c.1749G= (p.Glu583=) c.1590G= (p.Glu530=) c.1650G= (p.Glu550=) | |
| 19 | g.18785061C>G | CA404879104 | COMP | c.1749G>C (p.Glu583Asp) c.1590G>C (p.Glu530Asp) c.1650G>C (p.Glu550Asp) | |
| 19 | g.18785061C>T | CA506052449 | COMP | c.1749G>A (p.Glu583=) c.1590G>A (p.Glu530=) c.1650G>A (p.Glu550=) | dbSNP gnomAD v4 |
| 19 | g.18785062T>A | CA404879110 | COMP | c.1748A>T (p.Glu583Val) c.1589A>T (p.Glu530Val) c.1649A>T (p.Glu550Val) | |
| 19 | g.18785062T>C | CA404879116 | COMP | c.1748A>G (p.Glu583Gly) c.1589A>G (p.Glu530Gly) c.1649A>G (p.Glu550Gly) | |
| 19 | g.18785062T>G | CA404879118 | COMP | c.1748A>C (p.Glu583Ala) c.1589A>C (p.Glu530Ala) c.1649A>C (p.Glu550Ala) | |
| 19 | g.18785063C>A | CA404879126 | COMP | c.1747G>T (p.Glu583Ter) c.1588G>T (p.Glu530Ter) c.1648G>T (p.Glu550Ter) | |
| 19 | g.18785063C= | CA2326524940 | COMP | c.1747G= (p.Glu583=) c.1588G= (p.Glu530=) c.1648G= (p.Glu550=) | |
| 19 | g.18785063C>G | CA306253731 | COMP | c.1747G>C (p.Glu583Gln) c.1588G>C (p.Glu530Gln) c.1648G>C (p.Glu550Gln) | dbSNP gnomAD v4 COSMIC |
| 19 | g.18785063C>T | CA343856 | COMP | c.1747G>A (p.Glu583Lys) c.1588G>A (p.Glu530Lys) c.1648G>A (p.Glu550Lys) | ClinVar dbSNP |