Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.154953879C>A | CA10568387 | F8 | c.1903+13G>T (n.1903+13G>T) c.*1779+13G>T (n.*1779+13G>T) c.1798+13G>T (n.1798+13G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953879C= | CA2466844306 | F8 | c.1903+13G= (n.1903+13G=) c.*1779+13G= (n.*1779+13G=) c.1798+13G= (n.1798+13G=) | |
X | g.154953879C>T | CA2579744676 | F8 | c.1903+13G>A (n.1903+13G>A) c.*1779+13G>A (n.*1779+13G>A) c.1798+13G>A (n.1798+13G>A) | |
X | g.154953881G>A | CA873352167 | F8 | c.1903+11C>T (n.1903+11C>T) c.*1779+11C>T (n.*1779+11C>T) c.1798+11C>T (n.1798+11C>T) | dbSNP |
X | g.154953881G= | CA2466844307 | F8 | c.1903+11C= (n.1903+11C=) c.*1779+11C= (n.*1779+11C=) c.1798+11C= (n.1798+11C=) | |
X | g.154953887C>A | CA2695237226 | F8 | c.1903+5G>T (n.1903+5G>T) c.*1779+5G>T (n.*1779+5G>T) c.1798+5G>T (n.1798+5G>T) | |
X | g.154953887C>G | CA2695237225 | F8 | c.1903+5G>C (n.1903+5G>C) c.*1779+5G>C (n.*1779+5G>C) c.1798+5G>C (n.1798+5G>C) | |
X | g.154953887C>T | CA2573055184 | F8 | c.1903+5G>A (n.1903+5G>A) c.*1779+5G>A (n.*1779+5G>A) c.1798+5G>A (n.1798+5G>A) | ClinVar dbSNP |
X | g.154953889del | CA2695237228 | F8 | c.1903+3del (n.1903+3del) c.*1779+3del (n.*1779+3del) c.1798+3del (n.1798+3del) | |
X | g.154953889C>A | CA2579744677 | F8 | c.1903+3G>T (n.1903+3G>T) c.*1779+3G>T (n.*1779+3G>T) c.1798+3G>T (n.1798+3G>T) | |
X | g.154953890_154953891del | CA2695237227 | F8 | c.1903+2_1903+3del (n.1903+2_1903+3del) c.*1779+2_*1779+3del (n.*1779+2_*1779+3del) c.1798+2_1798+3del (n.1798+2_1798+3del) | |
X | g.154953890A>C | CA414910203 | F8 | c.1903+2T>G (n.1903+2T>G) c.*1779+2T>G (n.*1779+2T>G) c.1798+2T>G (n.1798+2T>G) | |
X | g.154953890A>G | CA414910206 | F8 | c.1903+2T>C (n.1903+2T>C) c.*1779+2T>C (n.*1779+2T>C) c.1798+2T>C (n.1798+2T>C) | COSMIC COSMIC |
X | g.154953890A>T | CA414910209 | F8 | c.1903+2T>A (n.1903+2T>A) c.*1779+2T>A (n.*1779+2T>A) c.1798+2T>A (n.1798+2T>A) | |
X | g.154953891C>A | CA414910212 | F8 | c.1903+1G>T (n.1903+1G>T) c.*1779+1G>T (n.*1779+1G>T) c.1798+1G>T (n.1798+1G>T) | |
X | g.154953891C>G | CA414910214 | F8 | c.1903+1G>C (n.1903+1G>C) c.*1779+1G>C (n.*1779+1G>C) c.1798+1G>C (n.1798+1G>C) | |
X | g.154953891C>T | CA414910215 | F8 | c.1903+1G>A (n.1903+1G>A) c.*1779+1G>A (n.*1779+1G>A) c.1798+1G>A (n.1798+1G>A) | |
X | g.154953892T>A | CA414910219 | F8 | c.1903A>T (p.Ser635Cys) c.*1779A>T (n.*1779A>T) c.1798A>T (p.Ser600Cys) | |
X | g.154953892T>C | CA414910221 | F8 | c.1903A>G (p.Ser635Gly) c.*1779A>G (n.*1779A>G) c.1798A>G (p.Ser600Gly) | |
X | g.154953892T>G | CA414910223 | F8 | c.1903A>C (p.Ser635Arg) c.*1779A>C (n.*1779A>C) c.1798A>C (p.Ser600Arg) | |
X | g.154953893G>A | CA519357710 | F8 | c.1902C>T (p.His634=) c.*1778C>T (n.*1778C>T) c.1797C>T (p.His599=) | dbSNP |
X | g.154953893G>C | CA414910225 | F8 | c.1902C>G (p.His634Gln) c.*1778C>G (n.*1778C>G) c.1797C>G (p.His599Gln) | |
X | g.154953893G= | CA2466844308 | F8 | c.1902C= (p.His634=) c.*1778C= (n.*1778C=) c.1797C= (p.His599=) | |
X | g.154953893G>T | CA414910228 | F8 | c.1902C>A (p.His634Gln) c.*1778C>A (n.*1778C>A) c.1797C>A (p.His599Gln) | |
X | g.154953894T>A | CA414910230 | F8 | c.1901A>T (p.His634Leu) c.*1777A>T (n.*1777A>T) c.1796A>T (p.His599Leu) | |
X | g.154953894T>C | CA414910235 | F8 | c.1901A>G (p.His634Arg) c.*1777A>G (n.*1777A>G) c.1796A>G (p.His599Arg) | |
X | g.154953894T>G | CA414910237 | F8 | c.1901A>C (p.His634Pro) c.*1777A>C (n.*1777A>C) c.1796A>C (p.His599Pro) | |
X | g.154953895G>A | CA414910240 | F8 | c.1900C>T (p.His634Tyr) c.*1776C>T (n.*1776C>T) c.1795C>T (p.His599Tyr) | |
X | g.154953895G>C | CA414910246 | F8 | c.1900C>G (p.His634Asp) c.*1776C>G (n.*1776C>G) c.1795C>G (p.His599Asp) | |
X | g.154953895G>T | CA414910248 | F8 | c.1900C>A (p.His634Asn) c.*1776C>A (n.*1776C>A) c.1795C>A (p.His599Asn) | |
X | g.154953896C>A | CA414910251 | F8 | c.1899G>T (p.Met633Ile) c.*1775G>T (n.*1775G>T) c.1794G>T (p.Met598Ile) | ClinVar dbSNP |
X | g.154953896C= | CA2466844309 | F8 | c.1899G= (p.Met633=) c.*1775G= (n.*1775G=) c.1794G= (p.Met598=) | |
X | g.154953896C>G | CA414910253 | F8 | c.1899G>C (p.Met633Ile) c.*1775G>C (n.*1775G>C) c.1794G>C (p.Met598Ile) | |
X | g.154953896C>T | CA414910257 | F8 | c.1899G>A (p.Met633Ile) c.*1775G>A (n.*1775G>A) c.1794G>A (p.Met598Ile) | |
X | g.154953896_154953899delinsCATG | CA2466844310 | F8 | c.1896_1899delinsCATG (p.Ile632=) c.*1772_*1775delinsCATG (n.*1772_*1775delinsCATG) c.1791_1794delinsCATG (p.Ile597=) | |
X | g.154953897A= | CA2466844312 | F8 | c.1898T= (p.Met633=) c.*1774T= (n.*1774T=) c.1793T= (p.Met598=) | |
X | g.154953897A>C | CA414910260 | F8 | c.1898T>G (p.Met633Arg) c.*1774T>G (n.*1774T>G) c.1793T>G (p.Met598Arg) | ClinVar dbSNP |
X | g.154953897A>G | CA414910262 | F8 | c.1898T>C (p.Met633Thr) c.*1774T>C (n.*1774T>C) c.1793T>C (p.Met598Thr) | |
X | g.154953897A>T | CA414910263 | F8 | c.1898T>A (p.Met633Lys) c.*1774T>A (n.*1774T>A) c.1793T>A (p.Met598Lys) | |
X | g.154953900_154953902dup | CA2695237229 | F8 | c.1896_1898dup (p.Ile632_Met633insIle) c.*1772_*1774dup (n.*1772_*1774dup) c.1791_1793dup (p.Ile597_Met598insIle) | |
X | g.154953900_154953902del | CA2466844311 | F8 | c.1896_1898del (p.Ile632del) c.*1772_*1774del (n.*1772_*1774del) c.1791_1793del (p.Ile597del) | dbSNP |
X | g.154953898T>A | CA414910264 | F8 | c.1897A>T (p.Met633Leu) c.*1773A>T (n.*1773A>T) c.1792A>T (p.Met598Leu) | |
X | g.154953898T>C | CA414910266 | F8 | c.1897A>G (p.Met633Val) c.*1773A>G (n.*1773A>G) c.1792A>G (p.Met598Val) | |
X | g.154953898T>G | CA414910265 | F8 | c.1897A>C (p.Met633Leu) c.*1773A>C (n.*1773A>C) c.1792A>C (p.Met598Leu) | |
X | g.154953899G>A | CA519357714 | F8 | c.1896C>T (p.Ile632=) c.*1772C>T (n.*1772C>T) c.1791C>T (p.Ile597=) | dbSNP COSMIC COSMIC |
X | g.154953899G>C | CA414910268 | F8 | c.1896C>G (p.Ile632Met) c.*1772C>G (n.*1772C>G) c.1791C>G (p.Ile597Met) | |
X | g.154953899G= | CA2466844313 | F8 | c.1896C= (p.Ile632=) c.*1772C= (n.*1772C=) c.1791C= (p.Ile597=) | |
X | g.154953899G>T | CA519357712 | F8 | c.1896C>A (p.Ile632=) c.*1772C>A (n.*1772C>A) c.1791C>A (p.Ile597=) | |
X | g.154953900A>C | CA414910272 | F8 | c.1895T>G (p.Ile632Ser) c.*1771T>G (n.*1771T>G) c.1790T>G (p.Ile597Ser) | |
X | g.154953900A>G | CA414910274 | F8 | c.1895T>C (p.Ile632Thr) c.*1771T>C (n.*1771T>C) c.1790T>C (p.Ile597Thr) | |
X | g.154953900A>T | CA414910276 | F8 | c.1895T>A (p.Ile632Asn) c.*1771T>A (n.*1771T>A) c.1790T>A (p.Ile597Asn) | |
X | g.154953900_154953901delinsAT | CA2466844314 | F8 | c.1894_1895delinsAT (p.Ile632=) c.*1770_*1771delinsAT (n.*1770_*1771delinsAT) c.1789_1790delinsAT (p.Ile597=) | |
X | g.154953901del | CA915952188 | F8 | c.1894del (p.Ile632SerfsTer28) c.*1770del (n.*1770del) c.1789del (p.Ile597SerfsTer28) | ClinVar dbSNP |
X | g.154953901T>A | CA414910279 | F8 | c.1894A>T (p.Ile632Phe) c.*1770A>T (n.*1770A>T) c.1789A>T (p.Ile597Phe) | |
X | g.154953901T>C | CA10568388 | F8 | c.1894A>G (p.Ile632Val) c.*1770A>G (n.*1770A>G) c.1789A>G (p.Ile597Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154953901T>G | CA414910284 | F8 | c.1894A>C (p.Ile632Leu) c.*1770A>C (n.*1770A>C) c.1789A>C (p.Ile597Leu) | |
X | g.154953901T= | CA2466844315 | F8 | c.1894A= (p.Ile632=) c.*1770A= (n.*1770A=) c.1789A= (p.Ile597=) | |
X | g.154953902G>A | CA519357715 | F8 | c.1893C>T (p.Asn631=) c.*1769C>T (n.*1769C>T) c.1788C>T (p.Asn596=) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.154953902G>C | CA414910288 | F8 | c.1893C>G (p.Asn631Lys) c.*1769C>G (n.*1769C>G) c.1788C>G (p.Asn596Lys) | |
X | g.154953902G= | CA2466844316 | F8 | c.1893C= (p.Asn631=) c.*1769C= (n.*1769C=) c.1788C= (p.Asn596=) | |
X | g.154953902G>T | CA414910291 | F8 | c.1893C>A (p.Asn631Lys) c.*1769C>A (n.*1769C>A) c.1788C>A (p.Asn596Lys) | |
X | g.154953903T>A | CA414910296 | F8 | c.1892A>T (p.Asn631Ile) c.*1768A>T (n.*1768A>T) c.1787A>T (p.Asn596Ile) | |
X | g.154953903T>C | CA255130 | F8 | c.1892A>G (p.Asn631Ser) c.*1768A>G (n.*1768A>G) c.1787A>G (p.Asn596Ser) | ClinVar dbSNP |
X | g.154953903T>G | CA414910316 | F8 | c.1892A>C (p.Asn631Thr) c.*1768A>C (n.*1768A>C) c.1787A>C (p.Asn596Thr) | |
X | g.154953903T= | CA2466844317 | F8 | c.1892A= (p.Asn631=) c.*1768A= (n.*1768A=) c.1787A= (p.Asn596=) | |
X | g.154953904T>A | CA414910318 | F8 | c.1891A>T (p.Asn631Tyr) c.*1767A>T (n.*1767A>T) c.1786A>T (p.Asn596Tyr) | |
X | g.154953904T>C | CA414910320 | F8 | c.1891A>G (p.Asn631Asp) c.*1767A>G (n.*1767A>G) c.1786A>G (p.Asn596Asp) | dbSNP |
X | g.154953904T>G | CA414910319 | F8 | c.1891A>C (p.Asn631His) c.*1767A>C (n.*1767A>C) c.1786A>C (p.Asn596His) | |
X | g.154953904T= | CA2466844318 | F8 | c.1891A= (p.Asn631=) c.*1767A= (n.*1767A=) c.1786A= (p.Asn596=) | |
X | g.154953905G>A | CA519357716 | F8 | c.1890C>T (p.Ser630=) c.*1766C>T (n.*1766C>T) c.1785C>T (p.Ser595=) | gnomAD v4 |
X | g.154953905G>C | CA519357717 | F8 | c.1890C>G (p.Ser630=) c.*1766C>G (n.*1766C>G) c.1785C>G (p.Ser595=) | |
X | g.154953905G>T | CA519357718 | F8 | c.1890C>A (p.Ser630=) c.*1766C>A (n.*1766C>A) c.1785C>A (p.Ser595=) | |
X | g.154953906G>A | CA414910321 | F8 | c.1889C>T (p.Ser630Phe) c.*1765C>T (n.*1765C>T) c.1784C>T (p.Ser595Phe) | |
X | g.154953906G>C | CA414910323 | F8 | c.1889C>G (p.Ser630Cys) c.*1765C>G (n.*1765C>G) c.1784C>G (p.Ser595Cys) | |
X | g.154953906G>T | CA414910325 | F8 | c.1889C>A (p.Ser630Tyr) c.*1765C>A (n.*1765C>A) c.1784C>A (p.Ser595Tyr) | |
X | g.154953907A>C | CA414910327 | F8 | c.1888T>G (p.Ser630Ala) c.*1764T>G (n.*1764T>G) c.1783T>G (p.Ser595Ala) | |
X | g.154953907A>G | CA414910336 | F8 | c.1888T>C (p.Ser630Pro) c.*1764T>C (n.*1764T>C) c.1783T>C (p.Ser595Pro) | |
X | g.154953907A>T | CA414910346 | F8 | c.1888T>A (p.Ser630Thr) c.*1764T>A (n.*1764T>A) c.1783T>A (p.Ser595Thr) | |
X | g.154953908G>A | CA519357720 | F8 | c.1887C>T (p.Ala629=) c.*1763C>T (n.*1763C>T) c.1782C>T (p.Ala594=) | |
X | g.154953908G>C | CA519357721 | F8 | c.1887C>G (p.Ala629=) c.*1763C>G (n.*1763C>G) c.1782C>G (p.Ala594=) | |
X | g.154953908G>T | CA519357719 | F8 | c.1887C>A (p.Ala629=) c.*1763C>A (n.*1763C>A) c.1782C>A (p.Ala594=) | |
X | g.154953909G>A | CA414910347 | F8 | c.1886C>T (p.Ala629Val) c.*1762C>T (n.*1762C>T) c.1781C>T (p.Ala594Val) | |
X | g.154953909G>C | CA10568389 | F8 | c.1886C>G (p.Ala629Gly) c.*1762C>G (n.*1762C>G) c.1781C>G (p.Ala594Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154953909G= | CA2466844319 | F8 | c.1886C= (p.Ala629=) c.*1762C= (n.*1762C=) c.1781C= (p.Ala594=) | |
X | g.154953909G>T | CA414910348 | F8 | c.1886C>A (p.Ala629Asp) c.*1762C>A (n.*1762C>A) c.1781C>A (p.Ala594Asp) | |
X | g.154953910C>A | CA414910369 | F8 | c.1885G>T (p.Ala629Ser) c.*1761G>T (n.*1761G>T) c.1780G>T (p.Ala594Ser) | |
X | g.154953910C>G | CA414910366 | F8 | c.1885G>C (p.Ala629Pro) c.*1761G>C (n.*1761G>C) c.1780G>C (p.Ala594Pro) | |
X | g.154953910C>T | CA414910352 | F8 | c.1885G>A (p.Ala629Thr) c.*1761G>A (n.*1761G>A) c.1780G>A (p.Ala594Thr) | COSMIC COSMIC |
X | g.154953911T>A | CA414910372 | F8 | c.1884A>T (p.Gln628His) c.*1760A>T (n.*1760A>T) c.1779A>T (p.Gln593His) | |
X | g.154953911T>C | CA519357722 | F8 | c.1884A>G (p.Gln628=) c.*1760A>G (n.*1760A>G) c.1779A>G (p.Gln593=) | |
X | g.154953911T>G | CA414910373 | F8 | c.1884A>C (p.Gln628His) c.*1760A>C (n.*1760A>C) c.1779A>C (p.Gln593His) | |
X | g.154953911_154953912insA | CA2602719975 | F8 | c.1883_1884insT (p.Gln628HisfsTer15) c.*1759_*1760insT (n.*1759_*1760insT) c.1778_1779insT (p.Gln593HisfsTer15) | gnomAD v3 gnomAD v4 |
X | g.154953912T>A | CA414910376 | F8 | c.1883A>T (p.Gln628Leu) c.*1759A>T (n.*1759A>T) c.1778A>T (p.Gln593Leu) | |
X | g.154953912T>C | CA414910384 | F8 | c.1883A>G (p.Gln628Arg) c.*1759A>G (n.*1759A>G) c.1778A>G (p.Gln593Arg) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154953912T>G | CA414910380 | F8 | c.1883A>C (p.Gln628Pro) c.*1759A>C (n.*1759A>C) c.1778A>C (p.Gln593Pro) | |
X | g.154953912T= | CA2466844320 | F8 | c.1883A= (p.Gln628=) c.*1759A= (n.*1759A=) c.1778A= (p.Gln593=) | |
X | g.154953913G>A | CA414910390 | F8 | c.1882C>T (p.Gln628Ter) c.*1758C>T (n.*1758C>T) c.1777C>T (p.Gln593Ter) | |
X | g.154953913G>C | CA414910392 | F8 | c.1882C>G (p.Gln628Glu) c.*1758C>G (n.*1758C>G) c.1777C>G (p.Gln593Glu) | |
X | g.154953913G>T | CA414910397 | F8 | c.1882C>A (p.Gln628Lys) c.*1758C>A (n.*1758C>A) c.1777C>A (p.Gln593Lys) | |
X | g.154953914G>A | CA519357723 | F8 | c.1881C>T (p.Phe627=) c.*1757C>T (n.*1757C>T) c.1776C>T (p.Phe592=) | gnomAD v4 |
X | g.154953914G>C | CA414910403 | F8 | c.1881C>G (p.Phe627Leu) c.*1757C>G (n.*1757C>G) c.1776C>G (p.Phe592Leu) | |
X | g.154953914G>T | CA414910411 | F8 | c.1881C>A (p.Phe627Leu) c.*1757C>A (n.*1757C>A) c.1776C>A (p.Phe592Leu) | |
X | g.154953915A>C | CA414910423 | F8 | c.1880T>G (p.Phe627Cys) c.*1756T>G (n.*1756T>G) c.1775T>G (p.Phe592Cys) | |
X | g.154953915A>G | CA414910431 | F8 | c.1880T>C (p.Phe627Ser) c.*1756T>C (n.*1756T>C) c.1775T>C (p.Phe592Ser) | |
X | g.154953915A>T | CA414910434 | F8 | c.1880T>A (p.Phe627Tyr) c.*1756T>A (n.*1756T>A) c.1775T>A (p.Phe592Tyr) | |
X | g.154953916A>C | CA414910439 | F8 | c.1879T>G (p.Phe627Val) c.*1755T>G (n.*1755T>G) c.1774T>G (p.Phe592Val) | |
X | g.154953916A>G | CA414910442 | F8 | c.1879T>C (p.Phe627Leu) c.*1755T>C (n.*1755T>C) c.1774T>C (p.Phe592Leu) | |
X | g.154953916A>T | CA414910445 | F8 | c.1879T>A (p.Phe627Ile) c.*1755T>A (n.*1755T>A) c.1774T>A (p.Phe592Ile) | COSMIC COSMIC |
X | g.154953917C>A | CA414910448 | F8 | c.1878G>T (p.Glu626Asp) c.*1754G>T (n.*1754G>T) c.1773G>T (p.Glu591Asp) | |
X | g.154953917C>G | CA414910451 | F8 | c.1878G>C (p.Glu626Asp) c.*1754G>C (n.*1754G>C) c.1773G>C (p.Glu591Asp) | |
X | g.154953917C>T | CA519357724 | F8 | c.1878G>A (p.Glu626=) c.*1754G>A (n.*1754G>A) c.1773G>A (p.Glu591=) | |
X | g.154953918T>A | CA414910471 | F8 | c.1877A>T (p.Glu626Val) c.*1753A>T (n.*1753A>T) c.1772A>T (p.Glu591Val) | |
X | g.154953918T>C | CA414910465 | F8 | c.1877A>G (p.Glu626Gly) c.*1753A>G (n.*1753A>G) c.1772A>G (p.Glu591Gly) | |
X | g.154953918T>G | CA414910469 | F8 | c.1877A>C (p.Glu626Ala) c.*1753A>C (n.*1753A>C) c.1772A>C (p.Glu591Ala) | |
X | g.154953919C>A | CA414910474 | F8 | c.1876G>T (p.Glu626Ter) c.*1752G>T (n.*1752G>T) c.1771G>T (p.Glu591Ter) | |
X | g.154953919C>G | CA414910477 | F8 | c.1876G>C (p.Glu626Gln) c.*1752G>C (n.*1752G>C) c.1771G>C (p.Glu591Gln) | |
X | g.154953919C>T | CA414910480 | F8 | c.1876G>A (p.Glu626Lys) c.*1752G>A (n.*1752G>A) c.1771G>A (p.Glu591Lys) | |
X | g.154953920T>A | CA519357726 | F8 | c.1875A>T (p.Pro625=) c.*1751A>T (n.*1751A>T) c.1770A>T (p.Pro590=) | |
X | g.154953920T>C | CA519357725 | F8 | c.1875A>G (p.Pro625=) c.*1751A>G (n.*1751A>G) c.1770A>G (p.Pro590=) | |
X | g.154953920T>G | CA519357727 | F8 | c.1875A>C (p.Pro625=) c.*1751A>C (n.*1751A>C) c.1770A>C (p.Pro590=) | |
X | g.154953920_154953921del | CA2695237230 | F8 | c.1874_1875del (p.Pro625ArgfsTer17) c.*1750_*1751del (n.*1750_*1751del) c.1769_1770del (p.Pro590ArgfsTer17) | |
X | g.154953921G>A | CA414910484 | F8 | c.1874C>T (p.Pro625Leu) c.*1750C>T (n.*1750C>T) c.1769C>T (p.Pro590Leu) | |
X | g.154953921G>C | CA414910487 | F8 | c.1874C>G (p.Pro625Arg) c.*1750C>G (n.*1750C>G) c.1769C>G (p.Pro590Arg) | |
X | g.154953921G>T | CA414910491 | F8 | c.1874C>A (p.Pro625Gln) c.*1750C>A (n.*1750C>A) c.1769C>A (p.Pro590Gln) | |
X | g.154953922G>A | CA414910494 | F8 | c.1873C>T (p.Pro625Ser) c.*1749C>T (n.*1749C>T) c.1768C>T (p.Pro590Ser) | |
X | g.154953922G>C | CA414910496 | F8 | c.1873C>G (p.Pro625Ala) c.*1749C>G (n.*1749C>G) c.1768C>G (p.Pro590Ala) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154953922G= | CA2466844321 | F8 | c.1873C= (p.Pro625=) c.*1749C= (n.*1749C=) c.1768C= (p.Pro590=) | |
X | g.154953922G>T | CA414910499 | F8 | c.1873C>A (p.Pro625Thr) c.*1749C>A (n.*1749C>A) c.1768C>A (p.Pro590Thr) | |
X | g.154953923A>C | CA414910504 | F8 | c.1872T>G (p.Asp624Glu) c.*1748T>G (n.*1748T>G) c.1767T>G (p.Asp589Glu) | gnomAD v4 |
X | g.154953923A>G | CA519357728 | F8 | c.1872T>C (p.Asp624=) c.*1748T>C (n.*1748T>C) c.1767T>C (p.Asp589=) | |
X | g.154953923A>T | CA414910506 | F8 | c.1872T>A (p.Asp624Glu) c.*1748T>A (n.*1748T>A) c.1767T>A (p.Asp589Glu) | |
X | g.154953924T>A | CA414910511 | F8 | c.1871A>T (p.Asp624Val) c.*1747A>T (n.*1747A>T) c.1766A>T (p.Asp589Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154953924T>C | CA414910513 | F8 | c.1871A>G (p.Asp624Gly) c.*1747A>G (n.*1747A>G) c.1766A>G (p.Asp589Gly) | |
X | g.154953924T>G | CA414910512 | F8 | c.1871A>C (p.Asp624Ala) c.*1747A>C (n.*1747A>C) c.1766A>C (p.Asp589Ala) | |
X | g.154953924T= | CA2466844322 | F8 | c.1871A= (p.Asp624=) c.*1747A= (n.*1747A=) c.1766A= (p.Asp589=) | |
X | g.154953925C>A | CA414910514 | F8 | c.1870G>T (p.Asp624Tyr) c.*1746G>T (n.*1746G>T) c.1765G>T (p.Asp589Tyr) | |
X | g.154953925C>G | CA414910515 | F8 | c.1870G>C (p.Asp624His) c.*1746G>C (n.*1746G>C) c.1765G>C (p.Asp589His) | |
X | g.154953925C>T | CA414910517 | F8 | c.1870G>A (p.Asp624Asn) c.*1746G>A (n.*1746G>A) c.1765G>A (p.Asp589Asn) | |
X | g.154953926del | CA2695237231 | F8 | c.1870del (p.Asp624IlefsTer?) c.*1746del (n.*1746del) c.1765del (p.Asp589IlefsTer?) | |
X | g.154953926C>A | CA414910520 | F8 | c.1869G>T (p.Glu623Asp) c.*1745G>T (n.*1745G>T) c.1764G>T (p.Glu588Asp) | |
X | g.154953926C>G | CA414910522 | F8 | c.1869G>C (p.Glu623Asp) c.*1745G>C (n.*1745G>C) c.1764G>C (p.Glu588Asp) | gnomAD v4 |
X | g.154953926C>T | CA519357729 | F8 | c.1869G>A (p.Glu623=) c.*1745G>A (n.*1745G>A) c.1764G>A (p.Glu588=) | COSMIC COSMIC |
X | g.154953927T>A | CA414910526 | F8 | c.1868A>T (p.Glu623Val) c.*1744A>T (n.*1744A>T) c.1763A>T (p.Glu588Val) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154953927T>C | CA414910528 | F8 | c.1868A>G (p.Glu623Gly) c.*1744A>G (n.*1744A>G) c.1763A>G (p.Glu588Gly) | |
X | g.154953927T>G | CA414910531 | F8 | c.1868A>C (p.Glu623Ala) c.*1744A>C (n.*1744A>C) c.1763A>C (p.Glu588Ala) | |
X | g.154953927T= | CA2466844323 | F8 | c.1868A= (p.Glu623=) c.*1744A= (n.*1744A=) c.1763A= (p.Glu588=) | |
X | g.154953928C>A | CA414910534 | F8 | c.1867G>T (p.Glu623Ter) c.*1743G>T (n.*1743G>T) c.1762G>T (p.Glu588Ter) | |
X | g.154953928C>G | CA414910536 | F8 | c.1867G>C (p.Glu623Gln) c.*1743G>C (n.*1743G>C) c.1762G>C (p.Glu588Gln) | |
X | g.154953928C>T | CA414910539 | F8 | c.1867G>A (p.Glu623Lys) c.*1743G>A (n.*1743G>A) c.1762G>A (p.Glu588Lys) | |
X | g.154953929A= | CA2466844324 | F8 | c.1866T= (p.Leu622=) c.*1742T= (n.*1742T=) c.1761T= (p.Leu587=) | |
X | g.154953929A>C | CA519357730 | F8 | c.1866T>G (p.Leu622=) c.*1742T>G (n.*1742T>G) c.1761T>G (p.Leu587=) | |
X | g.154953929A>G | CA10568390 | F8 | c.1866T>C (p.Leu622=) c.*1742T>C (n.*1742T>C) c.1761T>C (p.Leu587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953929A>T | CA519357731 | F8 | c.1866T>A (p.Leu622=) c.*1742T>A (n.*1742T>A) c.1761T>A (p.Leu587=) | |
X | g.154953930A>C | CA414910546 | F8 | c.1865T>G (p.Leu622Arg) c.*1741T>G (n.*1741T>G) c.1760T>G (p.Leu587Arg) | |
X | g.154953930A>G | CA414910554 | F8 | c.1865T>C (p.Leu622Pro) c.*1741T>C (n.*1741T>C) c.1760T>C (p.Leu587Pro) | |
X | g.154953930A>T | CA414910550 | F8 | c.1865T>A (p.Leu622His) c.*1741T>A (n.*1741T>A) c.1760T>A (p.Leu587His) | |
X | g.154953931G>A | CA414910558 | F8 | c.1864C>T (p.Leu622Phe) c.*1740C>T (n.*1740C>T) c.1759C>T (p.Leu587Phe) | |
X | g.154953931G>C | CA414910562 | F8 | c.1864C>G (p.Leu622Val) c.*1740C>G (n.*1740C>G) c.1759C>G (p.Leu587Val) | |
X | g.154953931G>T | CA414910566 | F8 | c.1864C>A (p.Leu622Ile) c.*1740C>A (n.*1740C>A) c.1759C>A (p.Leu587Ile) | |
X | g.154953931_154953934dup | CA2695237232 | F8 | c.1861_1864dup (p.Leu622ProfsTer3) c.*1737_*1740dup (n.*1737_*1740dup) c.1756_1759dup (p.Leu587ProfsTer3) | |
X | g.154953932C>A | CA414910572 | F8 | c.1863G>T (p.Gln621His) c.*1739G>T (n.*1739G>T) c.1758G>T (p.Gln586His) | |
X | g.154953932C>G | CA414910574 | F8 | c.1863G>C (p.Gln621His) c.*1739G>C (n.*1739G>C) c.1758G>C (p.Gln586His) | |
X | g.154953932C>T | CA519357732 | F8 | c.1863G>A (p.Gln621=) c.*1739G>A (n.*1739G>A) c.1758G>A (p.Gln586=) | |
X | g.154953933T>A | CA414910576 | F8 | c.1862A>T (p.Gln621Leu) c.*1738A>T (n.*1738A>T) c.1757A>T (p.Gln586Leu) | |
X | g.154953933T>C | CA414910579 | F8 | c.1862A>G (p.Gln621Arg) c.*1738A>G (n.*1738A>G) c.1757A>G (p.Gln586Arg) | |
X | g.154953933T>G | CA414910582 | F8 | c.1862A>C (p.Gln621Pro) c.*1738A>C (n.*1738A>C) c.1757A>C (p.Gln586Pro) | |
X | g.154953934del | CA2695237234 | F8 | c.1861del (p.Gln621SerfsTer?) c.*1737del (n.*1737del) c.1756del (p.Gln586SerfsTer?) | |
X | g.154953934G>A | CA414910596 | F8 | c.1861C>T (p.Gln621Ter) c.*1737C>T (n.*1737C>T) c.1756C>T (p.Gln586Ter) | |
X | g.154953934G>C | CA414910593 | F8 | c.1861C>G (p.Gln621Glu) c.*1737C>G (n.*1737C>G) c.1756C>G (p.Gln586Glu) | dbSNP gnomAD v4 |
X | g.154953934G>T | CA414910585 | F8 | c.1861C>A (p.Gln621Lys) c.*1737C>A (n.*1737C>A) c.1756C>A (p.Gln586Lys) | |
X | g.154953935_154953952del | CA2695237233 | F8 | c.1844_1861del (p.Pro615_Val620del) c.*1720_*1737del (n.*1720_*1737del) c.1739_1756del (p.Pro580_Val585del) | |
X | g.154953935C>A | CA519357735 | F8 | c.1860G>T (p.Val620=) c.*1736G>T (n.*1736G>T) c.1755G>T (p.Val585=) | |
X | g.154953935C>G | CA519357733 | F8 | c.1860G>C (p.Val620=) c.*1736G>C (n.*1736G>C) c.1755G>C (p.Val585=) | |
X | g.154953935C>T | CA519357734 | F8 | c.1860G>A (p.Val620=) c.*1736G>A (n.*1736G>A) c.1755G>A (p.Val585=) | dbSNP gnomAD v4 |
X | g.154953936A>C | CA414910601 | F8 | c.1859T>G (p.Val620Gly) c.*1735T>G (n.*1735T>G) c.1754T>G (p.Val585Gly) | |
X | g.154953936A>G | CA414910608 | F8 | c.1859T>C (p.Val620Ala) c.*1735T>C (n.*1735T>C) c.1754T>C (p.Val585Ala) | |
X | g.154953936A>T | CA414910605 | F8 | c.1859T>A (p.Val620Glu) c.*1735T>A (n.*1735T>A) c.1754T>A (p.Val585Glu) | |
X | g.154953937C>A | CA414910610 | F8 | c.1858G>T (p.Val620Leu) c.*1734G>T (n.*1734G>T) c.1753G>T (p.Val585Leu) | |
X | g.154953937C>G | CA414910612 | F8 | c.1858G>C (p.Val620Leu) c.*1734G>C (n.*1734G>C) c.1753G>C (p.Val585Leu) | |
X | g.154953937C>T | CA414910616 | F8 | c.1858G>A (p.Val620Met) c.*1734G>A (n.*1734G>A) c.1753G>A (p.Val585Met) | |
X | g.154953938T>A | CA519357737 | F8 | c.1857A>T (p.Gly619=) c.*1733A>T (n.*1733A>T) c.1752A>T (p.Gly584=) | |
X | g.154953938T>C | CA519357738 | F8 | c.1857A>G (p.Gly619=) c.*1733A>G (n.*1733A>G) c.1752A>G (p.Gly584=) | |
X | g.154953938T>G | CA519357739 | F8 | c.1857A>C (p.Gly619=) c.*1733A>C (n.*1733A>C) c.1752A>C (p.Gly584=) | |
X | g.154953939C>A | CA414910627 | F8 | c.1856G>T (p.Gly619Val) c.*1732G>T (n.*1732G>T) c.1751G>T (p.Gly584Val) | |
X | g.154953939C>G | CA414910629 | F8 | c.1856G>C (p.Gly619Ala) c.*1732G>C (n.*1732G>C) c.1751G>C (p.Gly584Ala) | |
X | g.154953939C>T | CA414910634 | F8 | c.1856G>A (p.Gly619Glu) c.*1732G>A (n.*1732G>A) c.1751G>A (p.Gly584Glu) | |
X | g.154953940C>A | CA414910636 | F8 | c.1855G>T (p.Gly619Ter) c.*1731G>T (n.*1731G>T) c.1750G>T (p.Gly584Ter) | |
X | g.154953940C>G | CA414910644 | F8 | c.1855G>C (p.Gly619Arg) c.*1731G>C (n.*1731G>C) c.1750G>C (p.Gly584Arg) | |
X | g.154953940C>T | CA414910649 | F8 | c.1855G>A (p.Gly619Arg) c.*1731G>A (n.*1731G>A) c.1750G>A (p.Gly584Arg) | |
X | g.154953941A= | CA2466844325 | F8 | c.1854T= (p.Ala618=) c.*1730T= (n.*1730T=) c.1749T= (p.Ala583=) | |
X | g.154953941A>C | CA519357742 | F8 | c.1854T>G (p.Ala618=) c.*1730T>G (n.*1730T>G) c.1749T>G (p.Ala583=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953941A>G | CA519357740 | F8 | c.1854T>C (p.Ala618=) c.*1730T>C (n.*1730T>C) c.1749T>C (p.Ala583=) | |
X | g.154953941A>T | CA519357741 | F8 | c.1854T>A (p.Ala618=) c.*1730T>A (n.*1730T>A) c.1749T>A (p.Ala583=) | |
X | g.154953942G>A | CA414910653 | F8 | c.1853C>T (p.Ala618Val) c.*1729C>T (n.*1729C>T) c.1748C>T (p.Ala583Val) | |
X | g.154953942G>C | CA414910657 | F8 | c.1853C>G (p.Ala618Gly) c.*1729C>G (n.*1729C>G) c.1748C>G (p.Ala583Gly) | |
X | g.154953942G>T | CA414910658 | F8 | c.1853C>A (p.Ala618Asp) c.*1729C>A (n.*1729C>A) c.1748C>A (p.Ala583Asp) | |
X | g.154953943C>A | CA10568391 | F8 | c.1852G>T (p.Ala618Ser) c.*1728G>T (n.*1728G>T) c.1747G>T (p.Ala583Ser) | dbSNP ExAC gnomAD v2 |
X | g.154953943C= | CA2466844326 | F8 | c.1852G= (p.Ala618=) c.*1728G= (n.*1728G=) c.1747G= (p.Ala583=) | |
X | g.154953943C>G | CA414910670 | F8 | c.1852G>C (p.Ala618Pro) c.*1728G>C (n.*1728G>C) c.1747G>C (p.Ala583Pro) | |
X | g.154953943C>T | CA414910666 | F8 | c.1852G>A (p.Ala618Thr) c.*1728G>A (n.*1728G>A) c.1747G>A (p.Ala583Thr) | dbSNP gnomAD v2 gnomAD v4 |
X | g.154953944T>A | CA519357743 | F8 | c.1851A>T (p.Pro617=) c.*1727A>T (n.*1727A>T) c.1746A>T (p.Pro582=) | |
X | g.154953944T>C | CA10568392 | F8 | c.1851A>G (p.Pro617=) c.*1727A>G (n.*1727A>G) c.1746A>G (p.Pro582=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.154953944T>G | CA519357744 | F8 | c.1851A>C (p.Pro617=) c.*1727A>C (n.*1727A>C) c.1746A>C (p.Pro582=) | |
X | g.154953944T= | CA2466844327 | F8 | c.1851A= (p.Pro617=) c.*1727A= (n.*1727A=) c.1746A= (p.Pro582=) | |
X | g.154953945G>A | CA414910673 | F8 | c.1850C>T (p.Pro617Leu) c.*1726C>T (n.*1726C>T) c.1745C>T (p.Pro582Leu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.154953945G>C | CA414910676 | F8 | c.1850C>G (p.Pro617Arg) c.*1726C>G (n.*1726C>G) c.1745C>G (p.Pro582Arg) | |
X | g.154953945G= | CA2466844328 | F8 | c.1850C= (p.Pro617=) c.*1726C= (n.*1726C=) c.1745C= (p.Pro582=) | |
X | g.154953945G>T | CA414910679 | F8 | c.1850C>A (p.Pro617Gln) c.*1726C>A (n.*1726C>A) c.1745C>A (p.Pro582Gln) | |
X | g.154953946G>A | CA414910683 | F8 | c.1849C>T (p.Pro617Ser) c.*1725C>T (n.*1725C>T) c.1744C>T (p.Pro582Ser) | gnomAD v4 |
X | g.154953946G>C | CA414910685 | F8 | c.1849C>G (p.Pro617Ala) c.*1725C>G (n.*1725C>G) c.1744C>G (p.Pro582Ala) | gnomAD v4 |
X | g.154953946G>T | CA414910686 | F8 | c.1849C>A (p.Pro617Thr) c.*1725C>A (n.*1725C>A) c.1744C>A (p.Pro582Thr) | |
X | g.154953947A= | CA2466844329 | F8 | c.1848T= (p.Asn616=) c.*1724T= (n.*1724T=) c.1743T= (p.Asn581=) | |
X | g.154953947A>C | CA414910688 | F8 | c.1848T>G (p.Asn616Lys) c.*1724T>G (n.*1724T>G) c.1743T>G (p.Asn581Lys) | |
X | g.154953947A>G | CA519357745 | F8 | c.1848T>C (p.Asn616=) c.*1724T>C (n.*1724T>C) c.1743T>C (p.Asn581=) | ClinVar dbSNP |
X | g.154953947A>T | CA414910691 | F8 | c.1848T>A (p.Asn616Lys) c.*1724T>A (n.*1724T>A) c.1743T>A (p.Asn581Lys) | |
X | g.154953948T>A | CA414910700 | F8 | c.1847A>T (p.Asn616Ile) c.*1723A>T (n.*1723A>T) c.1742A>T (p.Asn581Ile) | |
X | g.154953948T>C | CA10568393 | F8 | c.1847A>G (p.Asn616Ser) c.*1723A>G (n.*1723A>G) c.1742A>G (p.Asn581Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.154953948T>G | CA414910697 | F8 | c.1847A>C (p.Asn616Thr) c.*1723A>C (n.*1723A>C) c.1742A>C (p.Asn581Thr) | |
X | g.154953948T= | CA2466844330 | F8 | c.1847A= (p.Asn616=) c.*1723A= (n.*1723A=) c.1742A= (p.Asn581=) | |
X | g.154953949T>A | CA414910702 | F8 | c.1846A>T (p.Asn616Tyr) c.*1722A>T (n.*1722A>T) c.1741A>T (p.Asn581Tyr) | |
X | g.154953949T>C | CA414910705 | F8 | c.1846A>G (p.Asn616Asp) c.*1722A>G (n.*1722A>G) c.1741A>G (p.Asn581Asp) | |
X | g.154953949T>G | CA414910710 | F8 | c.1846A>C (p.Asn616His) c.*1722A>C (n.*1722A>C) c.1741A>C (p.Asn581His) | |
X | g.154953950G>A | CA519357747 | F8 | c.1845C>T (p.Pro615=) c.*1721C>T (n.*1721C>T) c.1740C>T (p.Pro580=) | |
X | g.154953950G>C | CA519357748 | F8 | c.1845C>G (p.Pro615=) c.*1721C>G (n.*1721C>G) c.1740C>G (p.Pro580=) | |
X | g.154953950G>T | CA519357746 | F8 | c.1845C>A (p.Pro615=) c.*1721C>A (n.*1721C>A) c.1740C>A (p.Pro580=) | COSMIC COSMIC |
X | g.154953953del | CA2695237235 | F8 | c.1845del (p.Asn616IlefsTer?) c.*1721del (n.*1721del) c.1740del (p.Asn581IlefsTer?) | |
X | g.154953951G>A | CA414910713 | F8 | c.1844C>T (p.Pro615Leu) c.*1720C>T (n.*1720C>T) c.1739C>T (p.Pro580Leu) | COSMIC COSMIC |
X | g.154953951G>C | CA414910716 | F8 | c.1844C>G (p.Pro615Arg) c.*1720C>G (n.*1720C>G) c.1739C>G (p.Pro580Arg) | |
X | g.154953951G>T | CA414910721 | F8 | c.1844C>A (p.Pro615His) c.*1720C>A (n.*1720C>A) c.1739C>A (p.Pro580His) | |
X | g.154953952G>A | CA414910724 | F8 | c.1843C>T (p.Pro615Ser) c.*1719C>T (n.*1719C>T) c.1738C>T (p.Pro580Ser) | |
X | g.154953952G>C | CA414910725 | F8 | c.1843C>G (p.Pro615Ala) c.*1719C>G (n.*1719C>G) c.1738C>G (p.Pro580Ala) | dbSNP |
X | g.154953952G= | CA2466844331 | F8 | c.1843C= (p.Pro615=) c.*1719C= (n.*1719C=) c.1738C= (p.Pro580=) | |
X | g.154953952G>T | CA414910727 | F8 | c.1843C>A (p.Pro615Thr) c.*1719C>A (n.*1719C>A) c.1738C>A (p.Pro580Thr) | |
X | g.154953953G>A | CA519357750 | F8 | c.1842C>T (p.Leu614=) c.*1718C>T (n.*1718C>T) c.1737C>T (p.Leu579=) | gnomAD v4 |
X | g.154953953G>C | CA519357751 | F8 | c.1842C>G (p.Leu614=) c.*1718C>G (n.*1718C>G) c.1737C>G (p.Leu579=) | |
X | g.154953953G>T | CA519357752 | F8 | c.1842C>A (p.Leu614=) c.*1718C>A (n.*1718C>A) c.1737C>A (p.Leu579=) | |
X | g.154953954A= | CA2466844332 | F8 | c.1841T= (p.Leu614=) c.*1717T= (n.*1717T=) c.1736T= (p.Leu579=) | |
X | g.154953954A>C | CA414910730 | F8 | c.1841T>G (p.Leu614Arg) c.*1717T>G (n.*1717T>G) c.1736T>G (p.Leu579Arg) | dbSNP |
X | g.154953954A>G | CA414910733 | F8 | c.1841T>C (p.Leu614Pro) c.*1717T>C (n.*1717T>C) c.1736T>C (p.Leu579Pro) | |
X | g.154953954A>T | CA414910734 | F8 | c.1841T>A (p.Leu614His) c.*1717T>A (n.*1717T>A) c.1736T>A (p.Leu579His) | |
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 |