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 |
|---|---|---|---|---|---|
| X | g.154953954_154953957delinsGGAATATACAC | CA2695237236 | F8 | c.1838_1841delinsGTGTATATTCC (p.Phe613CysfsTer13) c.*1714_*1717delinsGTGTATATTCC (n.*1714_*1717delinsGTGTATATTCC) c.1733_1736delinsGTGTATATTCC (p.Phe578CysfsTer13) | |
| X | g.154953955G>A | CA414910737 | F8 | c.1840C>T (p.Leu614Phe) c.*1716C>T (n.*1716C>T) c.1735C>T (p.Leu579Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154953955G>C | CA414910735 | F8 | c.1840C>G (p.Leu614Val) c.*1716C>G (n.*1716C>G) c.1735C>G (p.Leu579Val) | |
| X | g.154953955G= | CA2466844333 | F8 | c.1840C= (p.Leu614=) c.*1716C= (n.*1716C=) c.1735C= (p.Leu579=) | |
| X | g.154953955G>T | CA414910736 | F8 | c.1840C>A (p.Leu614Ile) c.*1716C>A (n.*1716C>A) c.1735C>A (p.Leu579Ile) | |
| X | g.154953956A= | CA2466844334 | F8 | c.1839T= (p.Phe613=) c.*1715T= (n.*1715T=) c.1734T= (p.Phe578=) | |
| X | g.154953956A>C | CA414910741 | F8 | c.1839T>G (p.Phe613Leu) c.*1715T>G (n.*1715T>G) c.1734T>G (p.Phe578Leu) | |
| X | g.154953956A>G | CA519357753 | F8 | c.1839T>C (p.Phe613=) c.*1715T>C (n.*1715T>C) c.1734T>C (p.Phe578=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154953956A>T | CA414910746 | F8 | c.1839T>A (p.Phe613Leu) c.*1715T>A (n.*1715T>A) c.1734T>A (p.Phe578Leu) | |
| X | g.154953957A>C | CA414910749 | F8 | c.1838T>G (p.Phe613Cys) c.*1714T>G (n.*1714T>G) c.1733T>G (p.Phe578Cys) | |
| X | g.154953957A>G | CA414910754 | F8 | c.1838T>C (p.Phe613Ser) c.*1714T>C (n.*1714T>C) c.1733T>C (p.Phe578Ser) | |
| X | g.154953957A>T | CA414910756 | F8 | c.1838T>A (p.Phe613Tyr) c.*1714T>A (n.*1714T>A) c.1733T>A (p.Phe578Tyr) | |
| X | g.154953958A>C | CA414910760 | F8 | c.1837T>G (p.Phe613Val) c.*1713T>G (n.*1713T>G) c.1732T>G (p.Phe578Val) | |
| X | g.154953958A>G | CA414910764 | F8 | c.1837T>C (p.Phe613Leu) c.*1713T>C (n.*1713T>C) c.1732T>C (p.Phe578Leu) | |
| X | g.154953958A>T | CA414910771 | F8 | c.1837T>A (p.Phe613Ile) c.*1713T>A (n.*1713T>A) c.1732T>A (p.Phe578Ile) | |
| X | g.154953959G>A | CA519357754 | F8 | c.1836C>T (p.Arg612=) c.*1712C>T (n.*1712C>T) c.1731C>T (p.Arg577=) | |
| X | g.154953959G>C | CA519357755 | F8 | c.1836C>G (p.Arg612=) c.*1712C>G (n.*1712C>G) c.1731C>G (p.Arg577=) | |
| X | g.154953959G>T | CA519357756 | F8 | c.1836C>A (p.Arg612=) c.*1712C>A (n.*1712C>A) c.1731C>A (p.Arg577=) | gnomAD v4 COSMIC COSMIC |
| X | g.154953960C>A | CA414910774 | F8 | c.1835G>T (p.Arg612Leu) c.*1711G>T (n.*1711G>T) c.1730G>T (p.Arg577Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.154953960C= | CA2466844335 | F8 | c.1835G= (p.Arg612=) c.*1711G= (n.*1711G=) c.1730G= (p.Arg577=) | |
| X | g.154953960C>G | CA414910775 | F8 | c.1835G>C (p.Arg612Pro) c.*1711G>C (n.*1711G>C) c.1730G>C (p.Arg577Pro) | |
| X | g.154953960C>T | CA10568394 | F8 | c.1835G>A (p.Arg612His) c.*1711G>A (n.*1711G>A) c.1730G>A (p.Arg577His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154953961_154953973del | CA2695237237 | F8 | c.1823_1835del (p.Glu608AlafsTer?) c.*1699_*1711del (n.*1699_*1711del) c.1718_1730del (p.Glu573AlafsTer?) | |
| X | g.154953961G>A | CA255129 | F8 | c.1834C>T (p.Arg612Cys) c.*1710C>T (n.*1710C>T) c.1729C>T (p.Arg577Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154953961G>C | CA414910785 | F8 | c.1834C>G (p.Arg612Gly) c.*1710C>G (n.*1710C>G) c.1729C>G (p.Arg577Gly) | |
| X | g.154953961G= | CA2466844336 | F8 | c.1834C= (p.Arg612=) c.*1710C= (n.*1710C=) c.1729C= (p.Arg577=) | |
| X | g.154953961G>T | CA414910784 | F8 | c.1834C>A (p.Arg612Ser) c.*1710C>A (n.*1710C>A) c.1729C>A (p.Arg577Ser) | |
| X | g.154953963_154953965del | CA2695237238 | F8 | c.1832_1834del (p.Gln611del) c.*1708_*1710del (n.*1708_*1710del) c.1727_1729del (p.Gln576del) | |
| X | g.154953962T>A | CA414910798 | F8 | c.1833A>T (p.Gln611His) c.*1709A>T (n.*1709A>T) c.1728A>T (p.Gln576His) | |
| X | g.154953962T>C | CA10568395 | F8 | c.1833A>G (p.Gln611=) c.*1709A>G (n.*1709A>G) c.1728A>G (p.Gln576=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154953962T>G | CA414910799 | F8 | c.1833A>C (p.Gln611His) c.*1709A>C (n.*1709A>C) c.1728A>C (p.Gln576His) | |
| X | g.154953962T= | CA2466844337 | F8 | c.1833A= (p.Gln611=) c.*1709A= (n.*1709A=) c.1728A= (p.Gln576=) | |
| X | g.154953963T>A | CA414910802 | F8 | c.1832A>T (p.Gln611Leu) c.*1708A>T (n.*1708A>T) c.1727A>T (p.Gln576Leu) | |
| X | g.154953963T>C | CA414910804 | F8 | c.1832A>G (p.Gln611Arg) c.*1708A>G (n.*1708A>G) c.1727A>G (p.Gln576Arg) | |
| X | g.154953963T>G | CA414910810 | F8 | c.1832A>C (p.Gln611Pro) c.*1708A>C (n.*1708A>C) c.1727A>C (p.Gln576Pro) | |
| X | g.154953964G>A | CA414910814 | F8 | c.1831C>T (p.Gln611Ter) c.*1707C>T (n.*1707C>T) c.1726C>T (p.Gln576Ter) | |
| X | g.154953964G>C | CA414910818 | F8 | c.1831C>G (p.Gln611Glu) c.*1707C>G (n.*1707C>G) c.1726C>G (p.Gln576Glu) | |
| X | g.154953964G>T | CA414910820 | F8 | c.1831C>A (p.Gln611Lys) c.*1707C>A (n.*1707C>A) c.1726C>A (p.Gln576Lys) | |
| X | g.154953965T>A | CA519357760 | F8 | c.1830A>T (p.Ile610=) c.*1706A>T (n.*1706A>T) c.1725A>T (p.Ile575=) | |
| X | g.154953965T>C | CA337331951 | F8 | c.1830A>G (p.Ile610Met) c.*1706A>G (n.*1706A>G) c.1725A>G (p.Ile575Met) | ClinVar dbSNP gnomAD v4 |
| X | g.154953965T>G | CA519357762 | F8 | c.1830A>C (p.Ile610=) c.*1706A>C (n.*1706A>C) c.1725A>C (p.Ile575=) | |
| X | g.154953965T= | CA2466844338 | F8 | c.1830A= (p.Ile610=) c.*1706A= (n.*1706A=) c.1725A= (p.Ile575=) | |
| X | g.154953966A>C | CA414910824 | F8 | c.1829T>G (p.Ile610Arg) c.*1705T>G (n.*1705T>G) c.1724T>G (p.Ile575Arg) | |
| X | g.154953966A>G | CA414910828 | F8 | c.1829T>C (p.Ile610Thr) c.*1705T>C (n.*1705T>C) c.1724T>C (p.Ile575Thr) | |
| X | g.154953966A>T | CA414910831 | F8 | c.1829T>A (p.Ile610Lys) c.*1705T>A (n.*1705T>A) c.1724T>A (p.Ile575Lys) | |
| X | g.154953967T>A | CA414910835 | F8 | c.1828A>T (p.Ile610Leu) c.*1704A>T (n.*1704A>T) c.1723A>T (p.Ile575Leu) | |
| X | g.154953967T>C | CA414910836 | F8 | c.1828A>G (p.Ile610Val) c.*1704A>G (n.*1704A>G) c.1723A>G (p.Ile575Val) | gnomAD v4 |
| X | g.154953967T>G | CA414910838 | F8 | c.1828A>C (p.Ile610Leu) c.*1704A>C (n.*1704A>C) c.1723A>C (p.Ile575Leu) | |
| X | g.154953968A>C | CA414910844 | F8 | c.1827T>G (p.Asn609Lys) c.*1703T>G (n.*1703T>G) c.1722T>G (p.Asn574Lys) | |
| X | g.154953968A>G | CA519357764 | F8 | c.1827T>C (p.Asn609=) c.*1703T>C (n.*1703T>C) c.1722T>C (p.Asn574=) | |
| X | g.154953968A>T | CA414910846 | F8 | c.1827T>A (p.Asn609Lys) c.*1703T>A (n.*1703T>A) c.1722T>A (p.Asn574Lys) | |
| X | g.154953969T>A | CA414910848 | F8 | c.1826A>T (p.Asn609Ile) c.*1702A>T (n.*1702A>T) c.1721A>T (p.Asn574Ile) | dbSNP |
| X | g.154953969T>C | CA414910849 | F8 | c.1826A>G (p.Asn609Ser) c.*1702A>G (n.*1702A>G) c.1721A>G (p.Asn574Ser) | |
| X | g.154953969T>G | CA414910850 | F8 | c.1826A>C (p.Asn609Thr) c.*1702A>C (n.*1702A>C) c.1721A>C (p.Asn574Thr) | |
| X | g.154953969T= | CA2466844339 | F8 | c.1826A= (p.Asn609=) c.*1702A= (n.*1702A=) c.1721A= (p.Asn574=) | |
| X | g.154953970T>A | CA414910851 | F8 | c.1825A>T (p.Asn609Tyr) c.*1701A>T (n.*1701A>T) c.1720A>T (p.Asn574Tyr) | |
| X | g.154953970T>C | CA414910852 | F8 | c.1825A>G (p.Asn609Asp) c.*1701A>G (n.*1701A>G) c.1720A>G (p.Asn574Asp) | |
| X | g.154953970T>G | CA414910854 | F8 | c.1825A>C (p.Asn609His) c.*1701A>C (n.*1701A>C) c.1720A>C (p.Asn574His) | ClinVar dbSNP |
| X | g.154953970T= | CA2466844340 | F8 | c.1825A= (p.Asn609=) c.*1701A= (n.*1701A=) c.1720A= (p.Asn574=) | |
| X | g.154953971C>A | CA414910856 | F8 | c.1824G>T (p.Glu608Asp) c.*1700G>T (n.*1700G>T) c.1719G>T (p.Glu573Asp) | |
| X | g.154953971C= | CA2466844341 | F8 | c.1824G= (p.Glu608=) c.*1700G= (n.*1700G=) c.1719G= (p.Glu573=) | |
| X | g.154953971C>G | CA414910857 | F8 | c.1824G>C (p.Glu608Asp) c.*1700G>C (n.*1700G>C) c.1719G>C (p.Glu573Asp) | |
| X | g.154953971C>T | CA10568396 | F8 | c.1824G>A (p.Glu608=) c.*1700G>A (n.*1700G>A) c.1719G>A (p.Glu573=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154953972T>A | CA414910859 | F8 | c.1823A>T (p.Glu608Val) c.*1699A>T (n.*1699A>T) c.1718A>T (p.Glu573Val) | |
| X | g.154953972T>C | CA414910863 | F8 | c.1823A>G (p.Glu608Gly) c.*1699A>G (n.*1699A>G) c.1718A>G (p.Glu573Gly) | |
| X | g.154953972T>G | CA414910866 | F8 | c.1823A>C (p.Glu608Ala) c.*1699A>C (n.*1699A>C) c.1718A>C (p.Glu573Ala) | |
| X | g.154953973C>A | CA414910869 | F8 | c.1822G>T (p.Glu608Ter) c.*1698G>T (n.*1698G>T) c.1717G>T (p.Glu573Ter) | |
| X | g.154953973C>G | CA414910875 | F8 | c.1822G>C (p.Glu608Gln) c.*1698G>C (n.*1698G>C) c.1717G>C (p.Glu573Gln) | |
| X | g.154953973C>T | CA414910872 | F8 | c.1822G>A (p.Glu608Lys) c.*1698G>A (n.*1698G>A) c.1717G>A (p.Glu573Lys) | gnomAD v4 |
| X | g.154953974T>A | CA519357770 | F8 | c.1821A>T (p.Thr607=) c.*1697A>T (n.*1697A>T) c.1716A>T (p.Thr572=) | |
| X | g.154953974T>C | CA519357771 | F8 | c.1821A>G (p.Thr607=) c.*1697A>G (n.*1697A>G) c.1716A>G (p.Thr572=) | |
| X | g.154953974T>G | CA519357772 | F8 | c.1821A>C (p.Thr607=) c.*1697A>C (n.*1697A>C) c.1716A>C (p.Thr572=) | |
| X | g.154953976_154953977del | CA2695237239 | F8 | c.1820_1821del (p.Thr607ArgfsTer16) c.*1696_*1697del (n.*1696_*1697del) c.1715_1716del (p.Thr572ArgfsTer16) | |
| X | g.154953975G>A | CA414910883 | F8 | c.1820C>T (p.Thr607Ile) c.*1696C>T (n.*1696C>T) c.1715C>T (p.Thr572Ile) | gnomAD v4 |
| X | g.154953975G>C | CA414910885 | F8 | c.1820C>G (p.Thr607Arg) c.*1696C>G (n.*1696C>G) c.1715C>G (p.Thr572Arg) | |
| X | g.154953975G>T | CA414910887 | F8 | c.1820C>A (p.Thr607Lys) c.*1696C>A (n.*1696C>A) c.1715C>A (p.Thr572Lys) | |
| X | g.154953976T>A | CA414910889 | F8 | c.1819A>T (p.Thr607Ser) c.*1695A>T (n.*1695A>T) c.1714A>T (p.Thr572Ser) | |
| X | g.154953976T>C | CA414910891 | F8 | c.1819A>G (p.Thr607Ala) c.*1695A>G (n.*1695A>G) c.1714A>G (p.Thr572Ala) | |
| X | g.154953976T>G | CA414910895 | F8 | c.1819A>C (p.Thr607Pro) c.*1695A>C (n.*1695A>C) c.1714A>C (p.Thr572Pro) | |
| X | g.154953977G>A | CA519357775 | F8 | c.1818C>T (p.Leu606=) c.*1694C>T (n.*1694C>T) c.1713C>T (p.Leu571=) | gnomAD v4 |
| X | g.154953977G>C | CA519357773 | F8 | c.1818C>G (p.Leu606=) c.*1694C>G (n.*1694C>G) c.1713C>G (p.Leu571=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154953977G= | CA2466844342 | F8 | c.1818C= (p.Leu606=) c.*1694C= (n.*1694C=) c.1713C= (p.Leu571=) | |
| X | g.154953977G>T | CA519357774 | F8 | c.1818C>A (p.Leu606=) c.*1694C>A (n.*1694C>A) c.1713C>A (p.Leu571=) | |
| X | g.154953978A>C | CA414910898 | F8 | c.1817T>G (p.Leu606Arg) c.*1693T>G (n.*1693T>G) c.1712T>G (p.Leu571Arg) | |
| X | g.154953978A>G | CA414910901 | F8 | c.1817T>C (p.Leu606Pro) c.*1693T>C (n.*1693T>C) c.1712T>C (p.Leu571Pro) | |
| X | g.154953978A>T | CA414910906 | F8 | c.1817T>A (p.Leu606His) c.*1693T>A (n.*1693T>A) c.1712T>A (p.Leu571His) | |
| X | g.154953979G>A | CA10568397 | F8 | c.1816C>T (p.Leu606Phe) c.*1692C>T (n.*1692C>T) c.1711C>T (p.Leu571Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154953979G>C | CA414910909 | F8 | c.1816C>G (p.Leu606Val) c.*1692C>G (n.*1692C>G) c.1711C>G (p.Leu571Val) | |
| X | g.154953979G= | CA2466844343 | F8 | c.1816C= (p.Leu606=) c.*1692C= (n.*1692C=) c.1711C= (p.Leu571=) | |
| X | g.154953979G>T | CA414910911 | F8 | c.1816C>A (p.Leu606Ile) c.*1692C>A (n.*1692C>A) c.1711C>A (p.Leu571Ile) | COSMIC COSMIC |
| X | g.154953980G>A | CA519357776 | F8 | c.1815C>T (p.Tyr605=) c.*1691C>T (n.*1691C>T) c.1710C>T (p.Tyr570=) | |
| X | g.154953980G>C | CA414910919 | F8 | c.1815C>G (p.Tyr605Ter) c.*1691C>G (n.*1691C>G) c.1710C>G (p.Tyr570Ter) | |
| X | g.154953980G>T | CA414910914 | F8 | c.1815C>A (p.Tyr605Ter) c.*1691C>A (n.*1691C>A) c.1710C>A (p.Tyr570Ter) | |
| X | g.154953981T>A | CA414910921 | F8 | c.1814A>T (p.Tyr605Phe) c.*1690A>T (n.*1690A>T) c.1709A>T (p.Tyr570Phe) | COSMIC COSMIC |
| X | g.154953981T>C | CA414910923 | F8 | c.1814A>G (p.Tyr605Cys) c.*1690A>G (n.*1690A>G) c.1709A>G (p.Tyr570Cys) | dbSNP |
| X | g.154953981T>G | CA255128 | F8 | c.1814A>C (p.Tyr605Ser) c.*1690A>C (n.*1690A>C) c.1709A>C (p.Tyr570Ser) | ClinVar dbSNP |
| X | g.154953981T= | CA2466844344 | F8 | c.1814A= (p.Tyr605=) c.*1690A= (n.*1690A=) c.1709A= (p.Tyr570=) | |
| X | g.154953982A= | CA2466844345 | F8 | c.1813T= (p.Tyr605=) c.*1689T= (n.*1689T=) c.1708T= (p.Tyr570=) | |
| X | g.154953982A>C | CA414910927 | F8 | c.1813T>G (p.Tyr605Asp) c.*1689T>G (n.*1689T>G) c.1708T>G (p.Tyr570Asp) | |
| X | g.154953982A>G | CA414910928 | F8 | c.1813T>C (p.Tyr605His) c.*1689T>C (n.*1689T>C) c.1708T>C (p.Tyr570His) | dbSNP |
| X | g.154953982A>T | CA414910929 | F8 | c.1813T>A (p.Tyr605Asn) c.*1689T>A (n.*1689T>A) c.1708T>A (p.Tyr570Asn) | |
| X | g.154953982_154953983delinsAC | CA2466844346 | F8 | c.1812_1813delinsGT (p.Trp604=) c.*1688_*1689delinsGT (n.*1688_*1689delinsGT) c.1707_1708delinsGT (p.Trp569=) | |
| X | g.154953983C>A | CA414910930 | F8 | c.1812G>T (p.Trp604Cys) c.*1688G>T (n.*1688G>T) c.1707G>T (p.Trp569Cys) | |
| X | g.154953983C= | CA2466844348 | F8 | c.1812G= (p.Trp604=) c.*1688G= (n.*1688G=) c.1707G= (p.Trp569=) | |
| X | g.154953983C>G | CA255127 | F8 | c.1812G>C (p.Trp604Cys) c.*1688G>C (n.*1688G>C) c.1707G>C (p.Trp569Cys) | ClinVar dbSNP |
| X | g.154953983C>T | CA414910931 | F8 | c.1812G>A (p.Trp604Ter) c.*1688G>A (n.*1688G>A) c.1707G>A (p.Trp569Ter) | ClinVar dbSNP |
| X | g.154953984del | CA2466844347 | F8 | c.1812del (p.Trp604CysfsTer?) c.*1688del (n.*1688del) c.1707del (p.Trp569CysfsTer?) | dbSNP |
| X | g.154953984C>A | CA414910933 | F8 | c.1811G>T (p.Trp604Leu) c.*1687G>T (n.*1687G>T) c.1706G>T (p.Trp569Leu) | |
| X | g.154953984C>G | CA414910934 | F8 | c.1811G>C (p.Trp604Ser) c.*1687G>C (n.*1687G>C) c.1706G>C (p.Trp569Ser) | |
| X | g.154953984C>T | CA414910939 | F8 | c.1811G>A (p.Trp604Ter) c.*1687G>A (n.*1687G>A) c.1706G>A (p.Trp569Ter) | |
| X | g.154953985A>C | CA414910942 | F8 | c.1810T>G (p.Trp604Gly) c.*1686T>G (n.*1686T>G) c.1705T>G (p.Trp569Gly) | |
| X | g.154953985A>G | CA414910947 | F8 | c.1810T>C (p.Trp604Arg) c.*1686T>C (n.*1686T>C) c.1705T>C (p.Trp569Arg) | |
| X | g.154953985A>T | CA414910945 | F8 | c.1810T>A (p.Trp604Arg) c.*1686T>A (n.*1686T>A) c.1705T>A (p.Trp569Arg) | |
| X | g.154953986G>A | CA519357779 | F8 | c.1809C>T (p.Ser603=) c.*1685C>T (n.*1685C>T) c.1704C>T (p.Ser568=) | |
| X | g.154953986G>C | CA414910951 | F8 | c.1809C>G (p.Ser603Arg) c.*1685C>G (n.*1685C>G) c.1704C>G (p.Ser568Arg) | |
| X | g.154953986G>T | CA414910953 | F8 | c.1809C>A (p.Ser603Arg) c.*1685C>A (n.*1685C>A) c.1704C>A (p.Ser568Arg) | |
| X | g.154953987C>A | CA255126 | F8 | c.1808G>T (p.Ser603Ile) c.*1684G>T (n.*1684G>T) c.1703G>T (p.Ser568Ile) | ClinVar dbSNP |
| X | g.154953987C= | CA2466844349 | F8 | c.1808G= (p.Ser603=) c.*1684G= (n.*1684G=) c.1703G= (p.Ser568=) | |
| X | g.154953987C>G | CA414910960 | F8 | c.1808G>C (p.Ser603Thr) c.*1684G>C (n.*1684G>C) c.1703G>C (p.Ser568Thr) | |
| X | g.154953987C>T | CA414910963 | F8 | c.1808G>A (p.Ser603Asn) c.*1684G>A (n.*1684G>A) c.1703G>A (p.Ser568Asn) | ClinVar |
| X | g.154953988T>A | CA414910966 | F8 | c.1807A>T (p.Ser603Cys) c.*1683A>T (n.*1683A>T) c.1702A>T (p.Ser568Cys) | dbSNP |
| X | g.154953988T>C | CA414910969 | F8 | c.1807A>G (p.Ser603Gly) c.*1683A>G (n.*1683A>G) c.1702A>G (p.Ser568Gly) | |
| X | g.154953988T>G | CA414910971 | F8 | c.1807A>C (p.Ser603Arg) c.*1683A>C (n.*1683A>C) c.1702A>C (p.Ser568Arg) | |
| X | g.154953988T= | CA2466844350 | F8 | c.1807A= (p.Ser603=) c.*1683A= (n.*1683A=) c.1702A= (p.Ser568=) | |
| X | g.154953988_154953989dup | CA2695237240 | F8 | c.1806_1807dup (p.Ser603LysfsTer?) c.*1682_*1683dup (n.*1682_*1683dup) c.1701_1702dup (p.Ser568LysfsTer?) | |
| X | g.154953989T>A | CA519357783 | F8 | c.1806A>T (p.Arg602=) c.*1682A>T (n.*1682A>T) c.1701A>T (p.Arg567=) | |
| X | g.154953989T>C | CA519357785 | F8 | c.1806A>G (p.Arg602=) c.*1682A>G (n.*1682A>G) c.1701A>G (p.Arg567=) | |
| X | g.154953989T>G | CA519357786 | F8 | c.1806A>C (p.Arg602=) c.*1682A>C (n.*1682A>C) c.1701A>C (p.Arg567=) | |
| X | g.154953990C>A | CA414910972 | F8 | c.1805G>T (p.Arg602Leu) c.*1681G>T (n.*1681G>T) c.1700G>T (p.Arg567Leu) | |
| X | g.154953990C= | CA2466844351 | F8 | c.1805G= (p.Arg602=) c.*1681G= (n.*1681G=) c.1700G= (p.Arg567=) | |
| X | g.154953990C>G | CA414910975 | F8 | c.1805G>C (p.Arg602Pro) c.*1681G>C (n.*1681G>C) c.1700G>C (p.Arg567Pro) | |
| X | g.154953990C>T | CA10568398 | F8 | c.1805G>A (p.Arg602Gln) c.*1681G>A (n.*1681G>A) c.1700G>A (p.Arg567Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154953991G>A | CA255124 | F8 | c.1804C>T (p.Arg602Ter) c.*1680C>T (n.*1680C>T) c.1699C>T (p.Arg567Ter) | ClinVar dbSNP |
| X | g.154953991G>C | CA414910979 | F8 | c.1804C>G (p.Arg602Gly) c.*1680C>G (n.*1680C>G) c.1699C>G (p.Arg567Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.154953991G= | CA2466844352 | F8 | c.1804C= (p.Arg602=) c.*1680C= (n.*1680C=) c.1699C= (p.Arg567=) | |
| X | g.154953991G>T | CA10568399 | F8 | c.1804C>A (p.Arg602=) c.*1680C>A (n.*1680C>A) c.1699C>A (p.Arg567=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154953992G>A | CA519357791 | F8 | c.1803C>T (p.Asn601=) c.*1679C>T (n.*1679C>T) c.1698C>T (p.Asn566=) | |
| X | g.154953992G>C | CA414910984 | F8 | c.1803C>G (p.Asn601Lys) c.*1679C>G (n.*1679C>G) c.1698C>G (p.Asn566Lys) | |
| X | g.154953992G= | CA2466844353 | F8 | c.1803C= (p.Asn601=) c.*1679C= (n.*1679C=) c.1698C= (p.Asn566=) | |
| X | g.154953992G>T | CA414910987 | F8 | c.1803C>A (p.Asn601Lys) c.*1679C>A (n.*1679C>A) c.1698C>A (p.Asn566Lys) | dbSNP |
| X | g.154953993T>A | CA414910990 | F8 | c.1802A>T (p.Asn601Ile) c.*1678A>T (n.*1678A>T) c.1697A>T (p.Asn566Ile) | |
| X | g.154953993T>C | CA414910992 | F8 | c.1802A>G (p.Asn601Ser) c.*1678A>G (n.*1678A>G) c.1697A>G (p.Asn566Ser) | |
| X | g.154953993T>G | CA414910993 | F8 | c.1802A>C (p.Asn601Thr) c.*1678A>C (n.*1678A>C) c.1697A>C (p.Asn566Thr) | dbSNP |
| X | g.154953993T= | CA2466844354 | F8 | c.1802A= (p.Asn601=) c.*1678A= (n.*1678A=) c.1697A= (p.Asn566=) | |
| X | g.154953994T>A | CA414910996 | F8 | c.1801A>T (p.Asn601Tyr) c.*1677A>T (n.*1677A>T) c.1696A>T (p.Asn566Tyr) | |
| X | g.154953994T>C | CA414910999 | F8 | c.1801A>G (p.Asn601Asp) c.*1677A>G (n.*1677A>G) c.1696A>G (p.Asn566Asp) | dbSNP |
| X | g.154953994T>G | CA414911001 | F8 | c.1801A>C (p.Asn601His) c.*1677A>C (n.*1677A>C) c.1696A>C (p.Asn566His) | |
| X | g.154953994T= | CA2466844355 | F8 | c.1801A= (p.Asn601=) c.*1677A= (n.*1677A=) c.1696A= (p.Asn566=) | |
| X | g.154953995C>A | CA414911003 | F8 | c.1800G>T (p.Glu600Asp) c.*1676G>T (n.*1676G>T) c.1695G>T (p.Glu565Asp) | |
| X | g.154953995C= | CA2466844356 | F8 | c.1800G= (p.Glu600=) c.*1676G= (n.*1676G=) c.1695G= (p.Glu565=) | |
| X | g.154953995C>G | CA414911005 | F8 | c.1800G>C (p.Glu600Asp) c.*1676G>C (n.*1676G>C) c.1695G>C (p.Glu565Asp) | |
| X | g.154953995C>T | CA519357795 | F8 | c.1800G>A (p.Glu600=) c.*1676G>A (n.*1676G>A) c.1695G>A (p.Glu565=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.154953996T>A | CA414911008 | F8 | c.1799A>T (p.Glu600Val) c.*1675A>T (n.*1675A>T) c.1694A>T (p.Glu565Val) | |
| X | g.154953996T>C | CA414911013 | F8 | c.1799A>G (p.Glu600Gly) c.*1675A>G (n.*1675A>G) c.1694A>G (p.Glu565Gly) | |
| X | g.154953996T>G | CA414911016 | F8 | c.1799A>C (p.Glu600Ala) c.*1675A>C (n.*1675A>C) c.1694A>C (p.Glu565Ala) | |
| X | g.154953997C>A | CA414911019 | F8 | c.1798G>T (p.Glu600Ter) c.*1674G>T (n.*1674G>T) c.1693G>T (p.Glu565Ter) | COSMIC COSMIC |
| X | g.154953997C= | CA2466844357 | F8 | c.1798G= (p.Glu600=) c.*1674G= (n.*1674G=) c.1693G= (p.Glu565=) | |
| X | g.154953997C>G | CA414911021 | F8 | c.1798G>C (p.Glu600Gln) c.*1674G>C (n.*1674G>C) c.1693G>C (p.Glu565Gln) | dbSNP |
| X | g.154953997C>T | CA414911020 | F8 | c.1798G>A (p.Glu600Lys) c.*1674G>A (n.*1674G>A) c.1693G>A (p.Glu565Lys) | dbSNP |
| X | g.154953998A>C | CA414911023 | F8 | c.1797T>G (p.Asp599Glu) c.*1673T>G (n.*1673T>G) c.1692T>G (p.Asp564Glu) | gnomAD v4 |
| X | g.154953998A>G | CA519357796 | F8 | c.1797T>C (p.Asp599=) c.*1673T>C (n.*1673T>C) c.1692T>C (p.Asp564=) | |
| X | g.154953998A>T | CA414911025 | F8 | c.1797T>A (p.Asp599Glu) c.*1673T>A (n.*1673T>A) c.1692T>A (p.Asp564Glu) | |
| X | g.154953999T>A | CA414911027 | F8 | c.1796A>T (p.Asp599Val) c.*1672A>T (n.*1672A>T) c.1691A>T (p.Asp564Val) | |
| X | g.154953999T>C | CA414911029 | F8 | c.1796A>G (p.Asp599Gly) c.*1672A>G (n.*1672A>G) c.1691A>G (p.Asp564Gly) | |
| X | g.154953999T>G | CA414911032 | F8 | c.1796A>C (p.Asp599Ala) c.*1672A>C (n.*1672A>C) c.1691A>C (p.Asp564Ala) | |
| X | g.154954000C>A | CA414911035 | F8 | c.1795G>T (p.Asp599Tyr) c.*1671G>T (n.*1671G>T) c.1690G>T (p.Asp564Tyr) | |
| X | g.154954000C= | CA2466844358 | F8 | c.1795G= (p.Asp599=) c.*1671G= (n.*1671G=) c.1690G= (p.Asp564=) | |
| X | g.154954000C>G | CA414911037 | F8 | c.1795G>C (p.Asp599His) c.*1671G>C (n.*1671G>C) c.1690G>C (p.Asp564His) | |
| X | g.154954000C>T | CA10568400 | F8 | c.1795G>A (p.Asp599Asn) c.*1671G>A (n.*1671G>A) c.1690G>A (p.Asp564Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154954001A>C | CA414911042 | F8 | c.1794T>G (p.Phe598Leu) c.*1670T>G (n.*1670T>G) c.1689T>G (p.Phe563Leu) | |
| X | g.154954001A>G | CA519357803 | F8 | c.1794T>C (p.Phe598=) c.*1670T>C (n.*1670T>C) c.1689T>C (p.Phe563=) | |
| X | g.154954001A>T | CA414911048 | F8 | c.1794T>A (p.Phe598Leu) c.*1670T>A (n.*1670T>A) c.1689T>A (p.Phe563Leu) | |
| X | g.154954002A>C | CA414911054 | F8 | c.1793T>G (p.Phe598Cys) c.*1669T>G (n.*1669T>G) c.1688T>G (p.Phe563Cys) | |
| X | g.154954002A>G | CA414911053 | F8 | c.1793T>C (p.Phe598Ser) c.*1669T>C (n.*1669T>C) c.1688T>C (p.Phe563Ser) | |
| X | g.154954002A>T | CA414911050 | F8 | c.1793T>A (p.Phe598Tyr) c.*1669T>A (n.*1669T>A) c.1688T>A (p.Phe563Tyr) | |
| X | g.154954003A>C | CA414911055 | F8 | c.1792T>G (p.Phe598Val) c.*1668T>G (n.*1668T>G) c.1687T>G (p.Phe563Val) | |
| X | g.154954003A>G | CA414911056 | F8 | c.1792T>C (p.Phe598Leu) c.*1668T>C (n.*1668T>C) c.1687T>C (p.Phe563Leu) | |
| X | g.154954003A>T | CA414911058 | F8 | c.1792T>A (p.Phe598Ile) c.*1668T>A (n.*1668T>A) c.1687T>A (p.Phe563Ile) | |
| X | g.154954004T>A | CA519357806 | F8 | c.1791A>T (p.Val597=) c.*1667A>T (n.*1667A>T) c.1686A>T (p.Val562=) | |
| X | g.154954004T>C | CA519357807 | F8 | c.1791A>G (p.Val597=) c.*1667A>G (n.*1667A>G) c.1686A>G (p.Val562=) | |
| X | g.154954004T>G | CA519357808 | F8 | c.1791A>C (p.Val597=) c.*1667A>C (n.*1667A>C) c.1686A>C (p.Val562=) | |
| X | g.154954005A>C | CA414911060 | F8 | c.1790T>G (p.Val597Gly) c.*1666T>G (n.*1666T>G) c.1685T>G (p.Val562Gly) | |
| X | g.154954005A>G | CA414911062 | F8 | c.1790T>C (p.Val597Ala) c.*1666T>C (n.*1666T>C) c.1685T>C (p.Val562Ala) | |
| X | g.154954005A>T | CA414911064 | F8 | c.1790T>A (p.Val597Glu) c.*1666T>A (n.*1666T>A) c.1685T>A (p.Val562Glu) | |
| X | g.154954005_154954012del | CA2695237241 | F8 | c.1783_1790del (p.Phe595IlefsTer2) c.*1659_*1666del (n.*1659_*1666del) c.1678_1685del (p.Phe560IlefsTer2) | |
| X | g.154954006C>A | CA414911066 | F8 | c.1789G>T (p.Val597Leu) c.*1665G>T (n.*1665G>T) c.1684G>T (p.Val562Leu) | |
| X | g.154954006C>G | CA414911068 | F8 | c.1789G>C (p.Val597Leu) c.*1665G>C (n.*1665G>C) c.1684G>C (p.Val562Leu) | |
| X | g.154954006C>T | CA414911073 | F8 | c.1789G>A (p.Val597Ile) c.*1665G>A (n.*1665G>A) c.1684G>A (p.Val562Ile) | gnomAD v4 |
| X | g.154954007A>C | CA519357810 | F8 | c.1788T>G (p.Ser596=) c.*1664T>G (n.*1664T>G) c.1683T>G (p.Ser561=) | |
| X | g.154954007A>G | CA519357814 | F8 | c.1788T>C (p.Ser596=) c.*1664T>C (n.*1664T>C) c.1683T>C (p.Ser561=) | |
| X | g.154954007A>T | CA519357815 | F8 | c.1788T>A (p.Ser596=) c.*1664T>A (n.*1664T>A) c.1683T>A (p.Ser561=) | |
| X | g.154954008G>A | CA414911075 | F8 | c.1787C>T (p.Ser596Phe) c.*1663C>T (n.*1663C>T) c.1682C>T (p.Ser561Phe) | |
| X | g.154954008G>C | CA414911077 | F8 | c.1787C>G (p.Ser596Cys) c.*1663C>G (n.*1663C>G) c.1682C>G (p.Ser561Cys) | |
| X | g.154954008G>T | CA414911084 | F8 | c.1787C>A (p.Ser596Tyr) c.*1663C>A (n.*1663C>A) c.1682C>A (p.Ser561Tyr) | |
| X | g.154954009A= | CA2466844359 | F8 | c.1786T= (p.Ser596=) c.*1662T= (n.*1662T=) c.1681T= (p.Ser561=) | |
| X | g.154954009A>C | CA414911091 | F8 | c.1786T>G (p.Ser596Ala) c.*1662T>G (n.*1662T>G) c.1681T>G (p.Ser561Ala) | |
| X | g.154954009A>G | CA337331983 | F8 | c.1786T>C (p.Ser596Pro) c.*1662T>C (n.*1662T>C) c.1681T>C (p.Ser561Pro) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154954009A>T | CA414911088 | F8 | c.1786T>A (p.Ser596Thr) c.*1662T>A (n.*1662T>A) c.1681T>A (p.Ser561Thr) | |
| X | g.154954012del | CA2695237242 | F8 | c.1786del (p.Ser596LeufsTer?) c.*1662del (n.*1662del) c.1681del (p.Ser561LeufsTer?) | |
| X | g.154954010A>C | CA414911093 | F8 | c.1785T>G (p.Phe595Leu) c.*1661T>G (n.*1661T>G) c.1680T>G (p.Phe560Leu) | |
| X | g.154954010A>G | CA519357817 | F8 | c.1785T>C (p.Phe595=) c.*1661T>C (n.*1661T>C) c.1680T>C (p.Phe560=) | |
| X | g.154954010A>T | CA414911094 | F8 | c.1785T>A (p.Phe595Leu) c.*1661T>A (n.*1661T>A) c.1680T>A (p.Phe560Leu) | |
| X | g.154954011A= | CA2466844360 | F8 | c.1784T= (p.Phe595=) c.*1660T= (n.*1660T=) c.1679T= (p.Phe560=) | |
| X | g.154954011A>C | CA414911095 | F8 | c.1784T>G (p.Phe595Cys) c.*1660T>G (n.*1660T>G) c.1679T>G (p.Phe560Cys) | |
| X | g.154954011A>G | CA414911103 | F8 | c.1784T>C (p.Phe595Ser) c.*1660T>C (n.*1660T>C) c.1679T>C (p.Phe560Ser) | ClinVar dbSNP |
| X | g.154954011A>T | CA414911102 | F8 | c.1784T>A (p.Phe595Tyr) c.*1660T>A (n.*1660T>A) c.1679T>A (p.Phe560Tyr) | |
| X | g.154954012A= | CA2466844361 | F8 | c.1783T= (p.Phe595=) c.*1659T= (n.*1659T=) c.1678T= (p.Phe560=) | |
| X | g.154954012A>C | CA414911105 | F8 | c.1783T>G (p.Phe595Val) c.*1659T>G (n.*1659T>G) c.1678T>G (p.Phe560Val) | |
| X | g.154954012A>G | CA414911107 | F8 | c.1783T>C (p.Phe595Leu) c.*1659T>C (n.*1659T>C) c.1678T>C (p.Phe560Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154954012A>T | CA414911110 | F8 | c.1783T>A (p.Phe595Ile) c.*1659T>A (n.*1659T>A) c.1678T>A (p.Phe560Ile) | COSMIC COSMIC |
| X | g.154954013C>A | CA519357821 | F8 | c.1782G>T (p.Leu594=) c.*1658G>T (n.*1658G>T) c.1677G>T (p.Leu559=) | |
| X | g.154954013C= | CA2466844362 | F8 | c.1782G= (p.Leu594=) c.*1658G= (n.*1658G=) c.1677G= (p.Leu559=) | |
| X | g.154954013C>G | CA519357822 | F8 | c.1782G>C (p.Leu594=) c.*1658G>C (n.*1658G>C) c.1677G>C (p.Leu559=) | dbSNP gnomAD v2 |
| X | g.154954013C>T | CA519357823 | F8 | c.1782G>A (p.Leu594=) c.*1658G>A (n.*1658G>A) c.1677G>A (p.Leu559=) | |
| X | g.154954014A>C | CA414911112 | F8 | c.1781T>G (p.Leu594Arg) c.*1657T>G (n.*1657T>G) c.1676T>G (p.Leu559Arg) | |
| X | g.154954014A>G | CA414911113 | F8 | c.1781T>C (p.Leu594Pro) c.*1657T>C (n.*1657T>C) c.1676T>C (p.Leu559Pro) | ClinVar |
| X | g.154954014A>T | CA414911115 | F8 | c.1781T>A (p.Leu594Gln) c.*1657T>A (n.*1657T>A) c.1676T>A (p.Leu559Gln) | |
| X | g.154954015G>A | CA519357824 | F8 | c.1780C>T (p.Leu594=) c.*1656C>T (n.*1656C>T) c.1675C>T (p.Leu559=) | |
| X | g.154954015G>C | CA414911123 | F8 | c.1780C>G (p.Leu594Val) c.*1656C>G (n.*1656C>G) c.1675C>G (p.Leu559Val) | |
| X | g.154954015G>T | CA414911128 | F8 | c.1780C>A (p.Leu594Met) c.*1656C>A (n.*1656C>A) c.1675C>A (p.Leu559Met) | COSMIC COSMIC |
| X | g.154954016del | CA2695237243 | F8 | c.1780del (p.Leu594CysfsTer?) c.*1656del (n.*1656del) c.1675del (p.Leu559CysfsTer?) | |
| X | g.154954016G>A | CA519357825 | F8 | c.1779C>T (p.Ile593=) c.*1655C>T (n.*1655C>T) c.1674C>T (p.Ile558=) | COSMIC COSMIC |
| X | g.154954016G>C | CA414911130 | F8 | c.1779C>G (p.Ile593Met) c.*1655C>G (n.*1655C>G) c.1674C>G (p.Ile558Met) | |
| X | g.154954016G>T | CA519357826 | F8 | c.1779C>A (p.Ile593=) c.*1655C>A (n.*1655C>A) c.1674C>A (p.Ile558=) | |
| X | g.154954017A= | CA2466844363 | F8 | c.1778T= (p.Ile593=) c.*1654T= (n.*1654T=) c.1673T= (p.Ile558=) | |
| X | g.154954017A>C | CA414911133 | F8 | c.1778T>G (p.Ile593Ser) c.*1654T>G (n.*1654T>G) c.1673T>G (p.Ile558Ser) | |
| X | g.154954017A>G | CA414911136 | F8 | c.1778T>C (p.Ile593Thr) c.*1654T>C (n.*1654T>C) c.1673T>C (p.Ile558Thr) | |
| X | g.154954017A>T | CA414911137 | F8 | c.1778T>A (p.Ile593Asn) c.*1654T>A (n.*1654T>A) c.1673T>A (p.Ile558Asn) | ClinVar dbSNP |
| X | g.154954018T>A | CA414911143 | F8 | c.1777A>T (p.Ile593Phe) c.*1653A>T (n.*1653A>T) c.1672A>T (p.Ile558Phe) | |
| X | g.154954018T>C | CA414911140 | F8 | c.1777A>G (p.Ile593Val) c.*1653A>G (n.*1653A>G) c.1672A>G (p.Ile558Val) | |
| X | g.154954018T>G | CA414911141 | F8 | c.1777A>C (p.Ile593Leu) c.*1653A>C (n.*1653A>C) c.1672A>C (p.Ile558Leu) | |
| X | g.154954025_154954040dup | CA873352512 | F8 | c.1762_1777dup (p.Ile593ArgfsTer12) c.*1638_*1653dup (n.*1638_*1653dup) c.1657_1672dup (p.Ile558ArgfsTer12) | dbSNP |
| X | g.154954019G>A | CA519357831 | F8 | c.1776C>T (p.Val592=) c.*1652C>T (n.*1652C>T) c.1671C>T (p.Val557=) | |
| X | g.154954019G>C | CA519357829 | F8 | c.1776C>G (p.Val592=) c.*1652C>G (n.*1652C>G) c.1671C>G (p.Val557=) | |
| X | g.154954019G>T | CA519357827 | F8 | c.1776C>A (p.Val592=) c.*1652C>A (n.*1652C>A) c.1671C>A (p.Val557=) | |
| X | g.154954020del | CA2695237244 | F8 | c.1775del (p.Val592AlafsTer?) c.*1651del (n.*1651del) c.1670del (p.Val557AlafsTer?) | |
| X | g.154954020A= | CA2466844364 | F8 | c.1775T= (p.Val592=) c.*1651T= (n.*1651T=) c.1670T= (p.Val557=) | |
| X | g.154954020A>C | CA414911144 | F8 | c.1775T>G (p.Val592Gly) c.*1651T>G (n.*1651T>G) c.1670T>G (p.Val557Gly) | |
| X | g.154954020A>G | CA10568401 | F8 | c.1775T>C (p.Val592Ala) c.*1651T>C (n.*1651T>C) c.1670T>C (p.Val557Ala) | dbSNP ExAC gnomAD v4 |
| X | g.154954020A>T | CA414911145 | F8 | c.1775T>A (p.Val592Asp) c.*1651T>A (n.*1651T>A) c.1670T>A (p.Val557Asp) | |
| X | g.154954021C>A | CA414911146 | F8 | c.1774G>T (p.Val592Phe) c.*1650G>T (n.*1650G>T) c.1669G>T (p.Val557Phe) | |
| X | g.154954021C>G | CA414911148 | F8 | c.1774G>C (p.Val592Leu) c.*1650G>C (n.*1650G>C) c.1669G>C (p.Val557Leu) | |
| X | g.154954021C>T | CA414911150 | F8 | c.1774G>A (p.Val592Ile) c.*1650G>A (n.*1650G>A) c.1669G>A (p.Val557Ile) | gnomAD v4 |
| X | g.154954022A>C | CA414911157 | F8 | c.1773T>G (p.Asn591Lys) c.*1649T>G (n.*1649T>G) c.1668T>G (p.Asn556Lys) | |
| X | g.154954022A>G | CA519357833 | F8 | c.1773T>C (p.Asn591=) c.*1649T>C (n.*1649T>C) c.1668T>C (p.Asn556=) | |
| X | g.154954022A>T | CA414911159 | F8 | c.1773T>A (p.Asn591Lys) c.*1649T>A (n.*1649T>A) c.1668T>A (p.Asn556Lys) | |
| X | g.154954023T>A | CA414911161 | F8 | c.1772A>T (p.Asn591Ile) c.*1648A>T (n.*1648A>T) c.1667A>T (p.Asn556Ile) | |
| X | g.154954023T>C | CA414911166 | F8 | c.1772A>G (p.Asn591Ser) c.*1648A>G (n.*1648A>G) c.1667A>G (p.Asn556Ser) | |
| X | g.154954023T>G | CA414911169 | F8 | c.1772A>C (p.Asn591Thr) c.*1648A>C (n.*1648A>C) c.1667A>C (p.Asn556Thr) | |
| X | g.154954024T>A | CA414911173 | F8 | c.1771A>T (p.Asn591Tyr) c.*1647A>T (n.*1647A>T) c.1666A>T (p.Asn556Tyr) | |
| X | g.154954024T>C | CA414911175 | F8 | c.1771A>G (p.Asn591Asp) c.*1647A>G (n.*1647A>G) c.1666A>G (p.Asn556Asp) | |
| X | g.154954024T>G | CA414911174 | F8 | c.1771A>C (p.Asn591His) c.*1647A>C (n.*1647A>C) c.1666A>C (p.Asn556His) | |
| X | g.154954025C>A | CA414911176 | F8 | c.1770G>T (p.Arg590Ser) c.*1646G>T (n.*1646G>T) c.1665G>T (p.Arg555Ser) | |
| X | g.154954025C>G | CA414911177 | F8 | c.1770G>C (p.Arg590Ser) c.*1646G>C (n.*1646G>C) c.1665G>C (p.Arg555Ser) | |
| X | g.154954025C>T | CA519357838 | F8 | c.1770G>A (p.Arg590=) c.*1646G>A (n.*1646G>A) c.1665G>A (p.Arg555=) | |
| X | g.154954026C>A | CA414911183 | F8 | c.1769G>T (p.Arg590Met) c.*1645G>T (n.*1645G>T) c.1664G>T (p.Arg555Met) | |
| X | g.154954026C>G | CA414911187 | F8 | c.1769G>C (p.Arg590Thr) c.*1645G>C (n.*1645G>C) c.1664G>C (p.Arg555Thr) | |
| X | g.154954026C>T | CA414911191 | F8 | c.1769G>A (p.Arg590Lys) c.*1645G>A (n.*1645G>A) c.1664G>A (p.Arg555Lys) | |
| X | g.154954027T>A | CA414911193 | F8 | c.1768A>T (p.Arg590Trp) c.*1644A>T (n.*1644A>T) c.1663A>T (p.Arg555Trp) | |
| X | g.154954027T>C | CA414911197 | F8 | c.1768A>G (p.Arg590Gly) c.*1644A>G (n.*1644A>G) c.1663A>G (p.Arg555Gly) | gnomAD v4 |
| X | g.154954027T>G | CA519357839 | F8 | c.1768A>C (p.Arg590=) c.*1644A>C (n.*1644A>C) c.1663A>C (p.Arg555=) | |
| X | g.154954028C>A | CA414911200 | F8 | c.1767G>T (p.Lys589Asn) c.*1643G>T (n.*1643G>T) c.1662G>T (p.Lys554Asn) | |
| X | g.154954028C>G | CA414911202 | F8 | c.1767G>C (p.Lys589Asn) c.*1643G>C (n.*1643G>C) c.1662G>C (p.Lys554Asn) | |
| X | g.154954028C>T | CA519357842 | F8 | c.1767G>A (p.Lys589=) c.*1643G>A (n.*1643G>A) c.1662G>A (p.Lys554=) | |
| X | g.154954029T>A | CA414911210 | F8 | c.1766A>T (p.Lys589Met) c.*1642A>T (n.*1642A>T) c.1661A>T (p.Lys554Met) | |
| X | g.154954029T>C | CA414911206 | F8 | c.1766A>G (p.Lys589Arg) c.*1642A>G (n.*1642A>G) c.1661A>G (p.Lys554Arg) | |
| X | g.154954029T>G | CA414911204 | F8 | c.1766A>C (p.Lys589Thr) c.*1642A>C (n.*1642A>C) c.1661A>C (p.Lys554Thr) | |
| X | g.154954030T>A | CA414911223 | F8 | c.1765A>T (p.Lys589Ter) c.*1641A>T (n.*1641A>T) c.1660A>T (p.Lys554Ter) | |
| X | g.154954030T>C | CA414911226 | F8 | c.1765A>G (p.Lys589Glu) c.*1641A>G (n.*1641A>G) c.1660A>G (p.Lys554Glu) | dbSNP |
| X | g.154954030T>G | CA414911227 | F8 | c.1765A>C (p.Lys589Gln) c.*1641A>C (n.*1641A>C) c.1660A>C (p.Lys554Gln) | |
| X | g.154954030T= | CA2466844365 | F8 | c.1765A= (p.Lys589=) c.*1641A= (n.*1641A=) c.1660A= (p.Lys554=) | |
| X | g.154954031G>A | CA519357847 | F8 | c.1764C>T (p.Asp588=) c.*1640C>T (n.*1640C>T) c.1659C>T (p.Asp553=) | |
| X | g.154954031G>C | CA414911228 | F8 | c.1764C>G (p.Asp588Glu) c.*1640C>G (n.*1640C>G) c.1659C>G (p.Asp553Glu) | |
| X | g.154954031G= | CA2466844366 | F8 | c.1764C= (p.Asp588=) c.*1640C= (n.*1640C=) c.1659C= (p.Asp553=) | |
| X | g.154954031G>T | CA414911229 | F8 | c.1764C>A (p.Asp588Glu) c.*1640C>A (n.*1640C>A) c.1659C>A (p.Asp553Glu) | dbSNP |
| X | g.154954032T>A | CA414911232 | F8 | c.1763A>T (p.Asp588Val) c.*1639A>T (n.*1639A>T) c.1658A>T (p.Asp553Val) | |
| X | g.154954032T>C | CA414911234 | F8 | c.1763A>G (p.Asp588Gly) c.*1639A>G (n.*1639A>G) c.1658A>G (p.Asp553Gly) | |
| X | g.154954032T>G | CA414911242 | F8 | c.1763A>C (p.Asp588Ala) c.*1639A>C (n.*1639A>C) c.1658A>C (p.Asp553Ala) | |
| X | g.154954033C>A | CA414911245 | F8 | c.1762G>T (p.Asp588Tyr) c.*1638G>T (n.*1638G>T) c.1657G>T (p.Asp553Tyr) | |
| X | g.154954033C= | CA2466844367 | F8 | c.1762G= (p.Asp588=) c.*1638G= (n.*1638G=) c.1657G= (p.Asp553=) | |
| X | g.154954033C>G | CA414911248 | F8 | c.1762G>C (p.Asp588His) c.*1638G>C (n.*1638G>C) c.1657G>C (p.Asp553His) | dbSNP |
| X | g.154954033C>T | CA414911252 | F8 | c.1762G>A (p.Asp588Asn) c.*1638G>A (n.*1638G>A) c.1657G>A (p.Asp553Asn) | gnomAD v4 |
| X | g.154954034T>A | CA519357852 | F8 | c.1761A>T (p.Ser587=) c.*1637A>T (n.*1637A>T) c.1656A>T (p.Ser552=) | |
| X | g.154954034T>C | CA519357853 | F8 | c.1761A>G (p.Ser587=) c.*1637A>G (n.*1637A>G) c.1656A>G (p.Ser552=) | |
| X | g.154954034T>G | CA519357851 | F8 | c.1761A>C (p.Ser587=) c.*1637A>C (n.*1637A>C) c.1656A>C (p.Ser552=) | |
| X | g.154954035G>A | CA414911255 | F8 | c.1760C>T (p.Ser587Leu) c.*1636C>T (n.*1636C>T) c.1655C>T (p.Ser552Leu) | gnomAD v4 |
| X | g.154954035G>C | CA414911256 | F8 | c.1760C>G (p.Ser587Ter) c.*1636C>G (n.*1636C>G) c.1655C>G (p.Ser552Ter) | |
| X | g.154954035G>T | CA414911254 | F8 | c.1760C>A (p.Ser587Ter) c.*1636C>A (n.*1636C>A) c.1655C>A (p.Ser552Ter) | |
| X | g.154954036A>C | CA414911261 | F8 | c.1759T>G (p.Ser587Ala) c.*1635T>G (n.*1635T>G) c.1654T>G (p.Ser552Ala) | |
| X | g.154954036A>G | CA414911257 | F8 | c.1759T>C (p.Ser587Pro) c.*1635T>C (n.*1635T>C) c.1654T>C (p.Ser552Pro) | |
| X | g.154954036A>T | CA414911258 | F8 | c.1759T>A (p.Ser587Thr) c.*1635T>A (n.*1635T>A) c.1654T>A (p.Ser552Thr) | |
| X | g.154954037C>A | CA414911263 | F8 | c.1758G>T (p.Met586Ile) c.*1634G>T (n.*1634G>T) c.1653G>T (p.Met551Ile) | COSMIC COSMIC |
| X | g.154954037C>G | CA414911268 | F8 | c.1758G>C (p.Met586Ile) c.*1634G>C (n.*1634G>C) c.1653G>C (p.Met551Ile) | |
| X | g.154954037C>T | CA414911269 | F8 | c.1758G>A (p.Met586Ile) c.*1634G>A (n.*1634G>A) c.1653G>A (p.Met551Ile) | gnomAD v4 |
| X | g.154954038A>C | CA414911272 | F8 | c.1757T>G (p.Met586Arg) c.*1633T>G (n.*1633T>G) c.1652T>G (p.Met551Arg) | |
| X | g.154954038A>G | CA414911273 | F8 | c.1757T>C (p.Met586Thr) c.*1633T>C (n.*1633T>C) c.1652T>C (p.Met551Thr) | |
| X | g.154954038A>T | CA414911278 | F8 | c.1757T>A (p.Met586Lys) c.*1633T>A (n.*1633T>A) c.1652T>A (p.Met551Lys) | |
| X | g.154954039T>A | CA414911289 | F8 | c.1756A>T (p.Met586Leu) c.*1632A>T (n.*1632A>T) c.1651A>T (p.Met551Leu) | |
| X | g.154954039T>C | CA414911300 | F8 | c.1756A>G (p.Met586Val) c.*1632A>G (n.*1632A>G) c.1651A>G (p.Met551Val) | |
| X | g.154954039T>G | CA414911303 | F8 | c.1756A>C (p.Met586Leu) c.*1632A>C (n.*1632A>C) c.1651A>C (p.Met551Leu) | |
| X | g.154954040T>A | CA519357860 | F8 | c.1755A>T (p.Ile585=) c.*1631A>T (n.*1631A>T) c.1650A>T (p.Ile550=) | |
| X | g.154954040T>C | CA414911306 | F8 | c.1755A>G (p.Ile585Met) c.*1631A>G (n.*1631A>G) c.1650A>G (p.Ile550Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154954040T>G | CA519357861 | F8 | c.1755A>C (p.Ile585=) c.*1631A>C (n.*1631A>C) c.1650A>C (p.Ile550=) | |
| X | g.154954040T= | CA2466844368 | F8 | c.1755A= (p.Ile585=) c.*1631A= (n.*1631A=) c.1650A= (p.Ile550=) | |
| X | g.154954041A= | CA2466844369 | F8 | c.1754T= (p.Ile585=) c.*1630T= (n.*1630T=) c.1649T= (p.Ile550=) | |
| X | g.154954041A>C | CA414911312 | F8 | c.1754T>G (p.Ile585Arg) c.*1630T>G (n.*1630T>G) c.1649T>G (p.Ile550Arg) | |
| X | g.154954041A>G | CA255043 | F8 | c.1754T>C (p.Ile585Thr) c.*1630T>C (n.*1630T>C) c.1649T>C (p.Ile550Thr) | ClinVar dbSNP |
| X | g.154954041A>T | CA414911311 | F8 | c.1754T>A (p.Ile585Lys) c.*1630T>A (n.*1630T>A) c.1649T>A (p.Ile550Lys) | |
| X | g.154954042T>A | CA414911313 | F8 | c.1753A>T (p.Ile585Leu) c.*1629A>T (n.*1629A>T) c.1648A>T (p.Ile550Leu) | |
| X | g.154954042T>C | CA414911314 | F8 | c.1753A>G (p.Ile585Val) c.*1629A>G (n.*1629A>G) c.1648A>G (p.Ile550Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154954042T>G | CA414911315 | F8 | c.1753A>C (p.Ile585Leu) c.*1629A>C (n.*1629A>C) c.1648A>C (p.Ile550Leu) | |
| X | g.154954042T= | CA2466844370 | F8 | c.1753A= (p.Ile585=) c.*1629A= (n.*1629A=) c.1648A= (p.Ile550=) | |
| X | g.154954043C>A | CA414911320 | F8 | c.1753-1G>T (n.1753-1G>T) c.*1629-1G>T (n.*1629-1G>T) c.1648-1G>T (n.1648-1G>T) | |
| X | g.154954043C= | CA2466844371 | F8 | c.1753-1G= (n.1753-1G=) c.*1629-1G= (n.*1629-1G=) c.1648-1G= (n.1648-1G=) | |
| X | g.154954043C>G | CA414911325 | F8 | c.1753-1G>C (n.1753-1G>C) c.*1629-1G>C (n.*1629-1G>C) c.1648-1G>C (n.1648-1G>C) | dbSNP |
| X | g.154954043C>T | CA414911340 | F8 | c.1753-1G>A (n.1753-1G>A) c.*1629-1G>A (n.*1629-1G>A) c.1648-1G>A (n.1648-1G>A) | |
| X | g.154954044T>A | CA414911349 | F8 | c.1753-2A>T (n.1753-2A>T) c.*1629-2A>T (n.*1629-2A>T) c.1648-2A>T (n.1648-2A>T) | |
| X | g.154954044T>C | CA414911351 | F8 | c.1753-2A>G (n.1753-2A>G) c.*1629-2A>G (n.*1629-2A>G) c.1648-2A>G (n.1648-2A>G) | |
| X | g.154954044T>G | CA414911353 | F8 | c.1753-2A>C (n.1753-2A>C) c.*1629-2A>C (n.*1629-2A>C) c.1648-2A>C (n.1648-2A>C) | |
| X | g.154954045G>A | CA2824315508 | F8 | c.1753-3C>T (n.1753-3C>T) c.*1629-3C>T (n.*1629-3C>T) c.1648-3C>T (n.1648-3C>T) | |
| X | g.154954047T>C | CA645616775 | F8 | c.1753-5A>G (n.1753-5A>G) c.*1629-5A>G (n.*1629-5A>G) c.1648-5A>G (n.1648-5A>G) | COSMIC COSMIC |
| X | g.154954048A= | CA2466844372 | F8 | c.1753-6T= (n.1753-6T=) c.*1629-6T= (n.*1629-6T=) c.1648-6T= (n.1648-6T=) | |
| X | g.154954048A>C | CA1138601331 | F8 | c.1753-6T>G (n.1753-6T>G) c.*1629-6T>G (n.*1629-6T>G) c.1648-6T>G (n.1648-6T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154954048A>G | CA2579744678 | F8 | c.1753-6T>C (n.1753-6T>C) c.*1629-6T>C (n.*1629-6T>C) c.1648-6T>C (n.1648-6T>C) | gnomAD v4 |
| X | g.154954050T>C | CA645243573 | F8 | c.1753-8A>G (n.1753-8A>G) c.*1629-8A>G (n.*1629-8A>G) c.1648-8A>G (n.1648-8A>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154954050T= | CA2466844373 | F8 | c.1753-8A= (n.1753-8A=) c.*1629-8A= (n.*1629-8A=) c.1648-8A= (n.1648-8A=) | |
| X | g.154954051_154954052insG | CA2695169054 | F8 | c.1753-10_1753-9insC (n.1753-10_1753-9insC) c.*1629-10_*1629-9insC (n.*1629-10_*1629-9insC) c.1648-10_1648-9insC (n.1648-10_1648-9insC) | gnomAD v4 |
| X | g.154954054A= | CA2466844374 | F8 | c.1753-12T= (n.1753-12T=) c.*1629-12T= (n.*1629-12T=) c.1648-12T= (n.1648-12T=) | |
| X | g.154954054A>G | CA10568402 | F8 | c.1753-12T>C (n.1753-12T>C) c.*1629-12T>C (n.*1629-12T>C) c.1648-12T>C (n.1648-12T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154954055T>C | CA10568403 | F8 | c.1753-13A>G (n.1753-13A>G) c.*1629-13A>G (n.*1629-13A>G) c.1648-13A>G (n.1648-13A>G) | dbSNP ExAC gnomAD v2 |
| X | g.154954055T= | CA2466844375 | F8 | c.1753-13A= (n.1753-13A=) c.*1629-13A= (n.*1629-13A=) c.1648-13A= (n.1648-13A=) |