| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154930894_154933976del | CA2018007668 | F8 | c.2114-2298_2898del c.*1780-2298_*2564del c.2009-2298_2793del | |
| X | g.154931405_154931409del | CA2695238376 | F8 | c.2384_2388del (p.Arg795ThrfsTer4) c.*2050_*2054del (n.*2050_*2054del) c.2279_2283del (p.Arg760ThrfsTer4) | |
| X | g.154931407T>A | CA255140 | F8 | c.2383A>T (p.Arg795Ter) c.*2049A>T (n.*2049A>T) c.2278A>T (p.Arg760Ter) | ClinVar dbSNP |
| X | g.154931407T>C | CA10568332 | F8 | c.2383A>G (p.Arg795Gly) c.*2049A>G (n.*2049A>G) c.2278A>G (p.Arg760Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931407T>G | CA519719763 | F8 | c.2383A>C (p.Arg795=) c.*2049A>C (n.*2049A>C) c.2278A>C (p.Arg760=) | |
| X | g.154931407T= | CA2466836681 | F8 | c.2383A= (p.Arg795=) c.*2049A= (n.*2049A=) c.2278A= (p.Arg760=) | |
| X | g.154931408G>A | CA519719766 | F8 | c.2382C>T (p.His794=) c.*2048C>T (n.*2048C>T) c.2277C>T (p.His759=) | |
| X | g.154931408G>C | CA414901901 | F8 | c.2382C>G (p.His794Gln) c.*2048C>G (n.*2048C>G) c.2277C>G (p.His759Gln) | |
| X | g.154931408G>T | CA414901904 | F8 | c.2382C>A (p.His794Gln) c.*2048C>A (n.*2048C>A) c.2277C>A (p.His759Gln) | |
| X | g.154931409T>A | CA414901909 | F8 | c.2381A>T (p.His794Leu) c.*2047A>T (n.*2047A>T) c.2276A>T (p.His759Leu) | |
| X | g.154931409T>C | CA414901912 | F8 | c.2381A>G (p.His794Arg) c.*2047A>G (n.*2047A>G) c.2276A>G (p.His759Arg) | |
| X | g.154931409T>G | CA414901914 | F8 | c.2381A>C (p.His794Pro) c.*2047A>C (n.*2047A>C) c.2276A>C (p.His759Pro) | |
| X | g.154931410G>A | CA414901916 | F8 | c.2380C>T (p.His794Tyr) c.*2046C>T (n.*2046C>T) c.2275C>T (p.His759Tyr) | |
| X | g.154931410G>C | CA414901918 | F8 | c.2380C>G (p.His794Asp) c.*2046C>G (n.*2046C>G) c.2275C>G (p.His759Asp) | |
| X | g.154931410G>T | CA414901920 | F8 | c.2380C>A (p.His794Asn) c.*2046C>A (n.*2046C>A) c.2275C>A (p.His759Asn) | |
| X | g.154931411T>A | CA519719777 | F8 | c.2379A>T (p.Ala793=) c.*2045A>T (n.*2045A>T) c.2274A>T (p.Ala758=) | |
| X | g.154931411T>C | CA519719780 | F8 | c.2379A>G (p.Ala793=) c.*2045A>G (n.*2045A>G) c.2274A>G (p.Ala758=) | |
| X | g.154931411T>G | CA519719778 | F8 | c.2379A>C (p.Ala793=) c.*2045A>C (n.*2045A>C) c.2274A>C (p.Ala758=) | |
| X | g.154931412G>A | CA414901923 | F8 | c.2378C>T (p.Ala793Val) c.*2044C>T (n.*2044C>T) c.2273C>T (p.Ala758Val) | |
| X | g.154931412G>C | CA414901928 | F8 | c.2378C>G (p.Ala793Gly) c.*2044C>G (n.*2044C>G) c.2273C>G (p.Ala758Gly) | |
| X | g.154931412G>T | CA414901929 | F8 | c.2378C>A (p.Ala793Glu) c.*2044C>A (n.*2044C>A) c.2273C>A (p.Ala758Glu) | |
| X | g.154931413C>A | CA10568333 | F8 | c.2377G>T (p.Ala793Ser) c.*2043G>T (n.*2043G>T) c.2272G>T (p.Ala758Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931413C= | CA2466836682 | F8 | c.2377G= (p.Ala793=) c.*2043G= (n.*2043G=) c.2272G= (p.Ala758=) | |
| X | g.154931413C>G | CA414901940 | F8 | c.2377G>C (p.Ala793Pro) c.*2043G>C (n.*2043G>C) c.2272G>C (p.Ala758Pro) | |
| X | g.154931413C>T | CA414901932 | F8 | c.2377G>A (p.Ala793Thr) c.*2043G>A (n.*2043G>A) c.2272G>A (p.Ala758Thr) | COSMIC COSMIC |
| X | g.154931414A>C | CA414901943 | F8 | c.2376T>G (p.Phe792Leu) c.*2042T>G (n.*2042T>G) c.2271T>G (p.Phe757Leu) | gnomAD v4 |
| X | g.154931414A>G | CA519719787 | F8 | c.2376T>C (p.Phe792=) c.*2042T>C (n.*2042T>C) c.2271T>C (p.Phe757=) | |
| X | g.154931414A>T | CA414901945 | F8 | c.2376T>A (p.Phe792Leu) c.*2042T>A (n.*2042T>A) c.2271T>A (p.Phe757Leu) | |
| X | g.154931415A>C | CA414901947 | F8 | c.2375T>G (p.Phe792Cys) c.*2041T>G (n.*2041T>G) c.2270T>G (p.Phe757Cys) | |
| X | g.154931415A>G | CA414901949 | F8 | c.2375T>C (p.Phe792Ser) c.*2041T>C (n.*2041T>C) c.2270T>C (p.Phe757Ser) | |
| X | g.154931415A>T | CA414901952 | F8 | c.2375T>A (p.Phe792Tyr) c.*2041T>A (n.*2041T>A) c.2270T>A (p.Phe757Tyr) | gnomAD v4 |
| X | g.154931416A= | CA2466836683 | F8 | c.2374T= (p.Phe792=) c.*2040T= (n.*2040T=) c.2269T= (p.Phe757=) | |
| X | g.154931416A>C | CA414901955 | F8 | c.2374T>G (p.Phe792Val) c.*2040T>G (n.*2040T>G) c.2269T>G (p.Phe757Val) | |
| X | g.154931416A>G | CA10568334 | F8 | c.2374T>C (p.Phe792Leu) c.*2040T>C (n.*2040T>C) c.2269T>C (p.Phe757Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931416A>T | CA414901958 | F8 | c.2374T>A (p.Phe792Ile) c.*2040T>A (n.*2040T>A) c.2269T>A (p.Phe757Ile) | |
| X | g.154931417C>A | CA414901960 | F8 | c.2373G>T (p.Trp791Cys) c.*2039G>T (n.*2039G>T) c.2268G>T (p.Trp756Cys) | |
| X | g.154931417C= | CA2466836684 | F8 | c.2373G= (p.Trp791=) c.*2039G= (n.*2039G=) c.2268G= (p.Trp756=) | |
| X | g.154931417C>G | CA414901962 | F8 | c.2373G>C (p.Trp791Cys) c.*2039G>C (n.*2039G>C) c.2268G>C (p.Trp756Cys) | |
| X | g.154931417C>T | CA414901966 | F8 | c.2373G>A (p.Trp791Ter) c.*2039G>A (n.*2039G>A) c.2268G>A (p.Trp756Ter) | dbSNP |
| X | g.154931418dup | CA2695238377 | F8 | c.2373dup (p.Phe792ValfsTer9) c.*2039dup (n.*2039dup) c.2268dup (p.Phe757ValfsTer9) | |
| X | g.154931418C>A | CA414901972 | F8 | c.2372G>T (p.Trp791Leu) c.*2038G>T (n.*2038G>T) c.2267G>T (p.Trp756Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931418C= | CA2466836685 | F8 | c.2372G= (p.Trp791=) c.*2038G= (n.*2038G=) c.2267G= (p.Trp756=) | |
| X | g.154931418C>G | CA414901970 | F8 | c.2372G>C (p.Trp791Ser) c.*2038G>C (n.*2038G>C) c.2267G>C (p.Trp756Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931418C>T | CA414901968 | F8 | c.2372G>A (p.Trp791Ter) c.*2038G>A (n.*2038G>A) c.2267G>A (p.Trp756Ter) | dbSNP |
| X | g.154931419A>C | CA414901978 | F8 | c.2371T>G (p.Trp791Gly) c.*2037T>G (n.*2037T>G) c.2266T>G (p.Trp756Gly) | |
| X | g.154931419A>G | CA414901980 | F8 | c.2371T>C (p.Trp791Arg) c.*2037T>C (n.*2037T>C) c.2266T>C (p.Trp756Arg) | |
| X | g.154931419A>T | CA414901982 | F8 | c.2371T>A (p.Trp791Arg) c.*2037T>A (n.*2037T>A) c.2266T>A (p.Trp756Arg) | |
| X | g.154931420A>C | CA519719807 | F8 | c.2370T>G (p.Pro790=) c.*2036T>G (n.*2036T>G) c.2265T>G (p.Pro755=) | |
| X | g.154931420A>G | CA519719809 | F8 | c.2370T>C (p.Pro790=) c.*2036T>C (n.*2036T>C) c.2265T>C (p.Pro755=) | |
| X | g.154931420A>T | CA519719811 | F8 | c.2370T>A (p.Pro790=) c.*2036T>A (n.*2036T>A) c.2265T>A (p.Pro755=) | |
| X | g.154931421G>A | CA414901985 | F8 | c.2369C>T (p.Pro790Leu) c.*2035C>T (n.*2035C>T) c.2264C>T (p.Pro755Leu) | dbSNP |
| X | g.154931421G>C | CA414901988 | F8 | c.2369C>G (p.Pro790Arg) c.*2035C>G (n.*2035C>G) c.2264C>G (p.Pro755Arg) | |
| X | g.154931421G= | CA2466836686 | F8 | c.2369C= (p.Pro790=) c.*2035C= (n.*2035C=) c.2264C= (p.Pro755=) | |
| X | g.154931421G>T | CA414901989 | F8 | c.2369C>A (p.Pro790His) c.*2035C>A (n.*2035C>A) c.2264C>A (p.Pro755His) | |
| X | g.154931423del | CA2695238378 | F8 | c.2369del (p.Pro790LeufsTer21) c.*2035del (n.*2035del) c.2264del (p.Pro755LeufsTer21) | |
| X | g.154931422G>A | CA414901992 | F8 | c.2368C>T (p.Pro790Ser) c.*2034C>T (n.*2034C>T) c.2263C>T (p.Pro755Ser) | dbSNP |
| X | g.154931422G>C | CA414901996 | F8 | c.2368C>G (p.Pro790Ala) c.*2034C>G (n.*2034C>G) c.2263C>G (p.Pro755Ala) | |
| X | g.154931422G= | CA2466836687 | F8 | c.2368C= (p.Pro790=) c.*2034C= (n.*2034C=) c.2263C= (p.Pro755=) | |
| X | g.154931422G>T | CA414901999 | F8 | c.2368C>A (p.Pro790Thr) c.*2034C>A (n.*2034C>A) c.2263C>A (p.Pro755Thr) | |
| X | g.154931423G>A | CA519719820 | F8 | c.2367C>T (p.Asp789=) c.*2033C>T (n.*2033C>T) c.2262C>T (p.Asp754=) | |
| X | g.154931423G>C | CA414902002 | F8 | c.2367C>G (p.Asp789Glu) c.*2033C>G (n.*2033C>G) c.2262C>G (p.Asp754Glu) | COSMIC COSMIC |
| X | g.154931423G>T | CA414902006 | F8 | c.2367C>A (p.Asp789Glu) c.*2033C>A (n.*2033C>A) c.2262C>A (p.Asp754Glu) | |
| X | g.154931424T>A | CA414902012 | F8 | c.2366A>T (p.Asp789Val) c.*2032A>T (n.*2032A>T) c.2261A>T (p.Asp754Val) | |
| X | g.154931424T>C | CA414902015 | F8 | c.2366A>G (p.Asp789Gly) c.*2032A>G (n.*2032A>G) c.2261A>G (p.Asp754Gly) | |
| X | g.154931424T>G | CA414902013 | F8 | c.2366A>C (p.Asp789Ala) c.*2032A>C (n.*2032A>C) c.2261A>C (p.Asp754Ala) | dbSNP |
| X | g.154931424T= | CA2466836688 | F8 | c.2366A= (p.Asp789=) c.*2032A= (n.*2032A=) c.2261A= (p.Asp754=) | |
| X | g.154931425C>A | CA414902023 | F8 | c.2365G>T (p.Asp789Tyr) c.*2031G>T (n.*2031G>T) c.2260G>T (p.Asp754Tyr) | |
| X | g.154931425C>G | CA414902031 | F8 | c.2365G>C (p.Asp789His) c.*2031G>C (n.*2031G>C) c.2260G>C (p.Asp754His) | gnomAD v4 |
| X | g.154931425C>T | CA414902026 | F8 | c.2365G>A (p.Asp789Asn) c.*2031G>A (n.*2031G>A) c.2260G>A (p.Asp754Asn) | COSMIC COSMIC |
| X | g.154931426A>C | CA519719826 | F8 | c.2364T>G (p.Thr788=) c.*2030T>G (n.*2030T>G) c.2259T>G (p.Thr753=) | |
| X | g.154931426A>G | CA519719828 | F8 | c.2364T>C (p.Thr788=) c.*2030T>C (n.*2030T>C) c.2259T>C (p.Thr753=) | |
| X | g.154931426A>T | CA519719829 | F8 | c.2364T>A (p.Thr788=) c.*2030T>A (n.*2030T>A) c.2259T>A (p.Thr753=) | |
| X | g.154931427G>A | CA414902037 | F8 | c.2363C>T (p.Thr788Ile) c.*2029C>T (n.*2029C>T) c.2258C>T (p.Thr753Ile) | |
| X | g.154931427G>C | CA414902040 | F8 | c.2363C>G (p.Thr788Ser) c.*2029C>G (n.*2029C>G) c.2258C>G (p.Thr753Ser) | |
| X | g.154931427G>T | CA414902042 | F8 | c.2363C>A (p.Thr788Asn) c.*2029C>A (n.*2029C>A) c.2258C>A (p.Thr753Asn) | |
| X | g.154931428T>A | CA414902044 | F8 | c.2362A>T (p.Thr788Ser) c.*2028A>T (n.*2028A>T) c.2257A>T (p.Thr753Ser) | |
| X | g.154931428T>C | CA414902046 | F8 | c.2362A>G (p.Thr788Ala) c.*2028A>G (n.*2028A>G) c.2257A>G (p.Thr753Ala) | |
| X | g.154931428T>G | CA414902049 | F8 | c.2362A>C (p.Thr788Pro) c.*2028A>C (n.*2028A>C) c.2257A>C (p.Thr753Pro) | |
| X | g.154931429C>A | CA414902056 | F8 | c.2361G>T (p.Lys787Asn) c.*2027G>T (n.*2027G>T) c.2256G>T (p.Lys752Asn) | |
| X | g.154931429C>G | CA414902058 | F8 | c.2361G>C (p.Lys787Asn) c.*2027G>C (n.*2027G>C) c.2256G>C (p.Lys752Asn) | |
| X | g.154931429C>T | CA519719838 | F8 | c.2361G>A (p.Lys787=) c.*2027G>A (n.*2027G>A) c.2256G>A (p.Lys752=) | |
| X | g.154931430T>A | CA414902060 | F8 | c.2360A>T (p.Lys787Met) c.*2026A>T (n.*2026A>T) c.2255A>T (p.Lys752Met) | |
| X | g.154931430T>C | CA414902062 | F8 | c.2360A>G (p.Lys787Arg) c.*2026A>G (n.*2026A>G) c.2255A>G (p.Lys752Arg) | |
| X | g.154931430T>G | CA414902064 | F8 | c.2360A>C (p.Lys787Thr) c.*2026A>C (n.*2026A>C) c.2255A>C (p.Lys752Thr) | |
| X | g.154931431del | CA2695238379 | F8 | c.2360del (p.Lys787ArgfsTer24) c.*2026del (n.*2026del) c.2255del (p.Lys752ArgfsTer24) | |
| X | g.154931431T>A | CA414902076 | F8 | c.2359A>T (p.Lys787Ter) c.*2025A>T (n.*2025A>T) c.2254A>T (p.Lys752Ter) | |
| X | g.154931431T>C | CA414902068 | F8 | c.2359A>G (p.Lys787Glu) c.*2025A>G (n.*2025A>G) c.2254A>G (p.Lys752Glu) | |
| X | g.154931431T>G | CA414902073 | F8 | c.2359A>C (p.Lys787Gln) c.*2025A>C (n.*2025A>C) c.2254A>C (p.Lys752Gln) | |
| X | g.154931434_154931435del | CA2695238380 | F8 | c.2358_2359del (p.Lys787AspfsTer2) c.*2024_*2025del (n.*2024_*2025del) c.2253_2254del (p.Lys752AspfsTer2) | |
| X | g.154931432C>A | CA414902079 | F8 | c.2358G>T (p.Glu786Asp) c.*2024G>T (n.*2024G>T) c.2253G>T (p.Glu751Asp) | gnomAD v4 |
| X | g.154931432C>G | CA414902080 | F8 | c.2358G>C (p.Glu786Asp) c.*2024G>C (n.*2024G>C) c.2253G>C (p.Glu751Asp) | |
| X | g.154931432C>T | CA519719846 | F8 | c.2358G>A (p.Glu786=) c.*2024G>A (n.*2024G>A) c.2253G>A (p.Glu751=) | |
| X | g.154931433T>A | CA414902085 | F8 | c.2357A>T (p.Glu786Val) c.*2023A>T (n.*2023A>T) c.2252A>T (p.Glu751Val) | |
| X | g.154931433T>C | CA414902088 | F8 | c.2357A>G (p.Glu786Gly) c.*2023A>G (n.*2023A>G) c.2252A>G (p.Glu751Gly) | |
| X | g.154931433T>G | CA414902090 | F8 | c.2357A>C (p.Glu786Ala) c.*2023A>C (n.*2023A>C) c.2252A>C (p.Glu751Ala) | |
| X | g.154931434C>A | CA414902092 | F8 | c.2356G>T (p.Glu786Ter) c.*2022G>T (n.*2022G>T) c.2251G>T (p.Glu751Ter) | |
| X | g.154931434C>G | CA414902095 | F8 | c.2356G>C (p.Glu786Gln) c.*2022G>C (n.*2022G>C) c.2251G>C (p.Glu751Gln) | |
| X | g.154931434C>T | CA414902098 | F8 | c.2356G>A (p.Glu786Lys) c.*2022G>A (n.*2022G>A) c.2251G>A (p.Glu751Lys) | COSMIC COSMIC |
| X | g.154931435T>A | CA519719854 | F8 | c.2355A>T (p.Ile785=) c.*2021A>T (n.*2021A>T) c.2250A>T (p.Ile750=) | |
| X | g.154931435T>C | CA414902101 | F8 | c.2355A>G (p.Ile785Met) c.*2021A>G (n.*2021A>G) c.2250A>G (p.Ile750Met) | gnomAD v4 |
| X | g.154931435T>G | CA519719855 | F8 | c.2355A>C (p.Ile785=) c.*2021A>C (n.*2021A>C) c.2250A>C (p.Ile750=) | |
| X | g.154931436_154931437del | CA2695238381 | F8 | c.2354_2355del (p.Ile785ArgfsTer4) c.*2020_*2021del (n.*2020_*2021del) c.2249_2250del (p.Ile750ArgfsTer4) | |
| X | g.154931436A= | CA2466836689 | F8 | c.2354T= (p.Ile785=) c.*2020T= (n.*2020T=) c.2249T= (p.Ile750=) | |
| X | g.154931436A>C | CA414902109 | F8 | c.2354T>G (p.Ile785Arg) c.*2020T>G (n.*2020T>G) c.2249T>G (p.Ile750Arg) | |
| X | g.154931436A>G | CA414902108 | F8 | c.2354T>C (p.Ile785Thr) c.*2020T>C (n.*2020T>C) c.2249T>C (p.Ile750Thr) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931436A>T | CA414902105 | F8 | c.2354T>A (p.Ile785Lys) c.*2020T>A (n.*2020T>A) c.2249T>A (p.Ile750Lys) | |
| X | g.154931436_154931437delinsAT | CA2466836690 | F8 | c.2353_2354delinsAT (p.Ile785=) c.*2019_*2020delinsAT (n.*2019_*2020delinsAT) c.2248_2249delinsAT (p.Ile750=) | |
| X | g.154931437del | CA873344285 | F8 | c.2353del (p.Ile785Ter) c.*2019del (n.*2019del) c.2248del (p.Ile750Ter) | dbSNP |
| X | g.154931437T>A | CA414902113 | F8 | c.2353A>T (p.Ile785Leu) c.*2019A>T (n.*2019A>T) c.2248A>T (p.Ile750Leu) | |
| X | g.154931437T>C | CA414902116 | F8 | c.2353A>G (p.Ile785Val) c.*2019A>G (n.*2019A>G) c.2248A>G (p.Ile750Val) | |
| X | g.154931437T>G | CA414902118 | F8 | c.2353A>C (p.Ile785Leu) c.*2019A>C (n.*2019A>C) c.2248A>C (p.Ile750Leu) | |
| X | g.154931438del | CA2695238382 | F8 | c.2352del (p.Asp784GlufsTer2) c.*2018del (n.*2018del) c.2247del (p.Asp749GlufsTer2) | |
| X | g.154931438G>A | CA519719864 | F8 | c.2352C>T (p.Asp784=) c.*2018C>T (n.*2018C>T) c.2247C>T (p.Asp749=) | |
| X | g.154931438G>C | CA414902122 | F8 | c.2352C>G (p.Asp784Glu) c.*2018C>G (n.*2018C>G) c.2247C>G (p.Asp749Glu) | |
| X | g.154931438G>T | CA414902123 | F8 | c.2352C>A (p.Asp784Glu) c.*2018C>A (n.*2018C>A) c.2247C>A (p.Asp749Glu) | gnomAD v4 |
| X | g.154931439T>A | CA414902126 | F8 | c.2351A>T (p.Asp784Val) c.*2017A>T (n.*2017A>T) c.2246A>T (p.Asp749Val) | |
| X | g.154931439T>C | CA414902129 | F8 | c.2351A>G (p.Asp784Gly) c.*2017A>G (n.*2017A>G) c.2246A>G (p.Asp749Gly) | |
| X | g.154931439T>G | CA414902131 | F8 | c.2351A>C (p.Asp784Ala) c.*2017A>C (n.*2017A>C) c.2246A>C (p.Asp749Ala) | |
| X | g.154931440C>A | CA414902134 | F8 | c.2350G>T (p.Asp784Tyr) c.*2016G>T (n.*2016G>T) c.2245G>T (p.Asp749Tyr) | |
| X | g.154931440C= | CA2466836691 | F8 | c.2350G= (p.Asp784=) c.*2016G= (n.*2016G=) c.2245G= (p.Asp749=) | |
| X | g.154931440C>G | CA414902137 | F8 | c.2350G>C (p.Asp784His) c.*2016G>C (n.*2016G>C) c.2245G>C (p.Asp749His) | |
| X | g.154931440C>T | CA414902139 | F8 | c.2350G>A (p.Asp784Asn) c.*2016G>A (n.*2016G>A) c.2245G>A (p.Asp749Asn) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.154931441A>C | CA414902143 | F8 | c.2349T>G (p.Asn783Lys) c.*2015T>G (n.*2015T>G) c.2244T>G (p.Asn748Lys) | |
| X | g.154931441A>G | CA519719872 | F8 | c.2349T>C (p.Asn783=) c.*2015T>C (n.*2015T>C) c.2244T>C (p.Asn748=) | |
| X | g.154931441A>T | CA414902141 | F8 | c.2349T>A (p.Asn783Lys) c.*2015T>A (n.*2015T>A) c.2244T>A (p.Asn748Lys) | |
| X | g.154931442T>A | CA414902146 | F8 | c.2348A>T (p.Asn783Ile) c.*2014A>T (n.*2014A>T) c.2243A>T (p.Asn748Ile) | |
| X | g.154931442T>C | CA414902148 | F8 | c.2348A>G (p.Asn783Ser) c.*2014A>G (n.*2014A>G) c.2243A>G (p.Asn748Ser) | |
| X | g.154931442T>G | CA414902150 | F8 | c.2348A>C (p.Asn783Thr) c.*2014A>C (n.*2014A>C) c.2243A>C (p.Asn748Thr) | |
| X | g.154931445del | CA2544963622 | F8 | c.2348del (p.Asn783MetfsTer3) c.*2014del (n.*2014del) c.2243del (p.Asn748MetfsTer3) | |
| X | g.154931444_154931445del | CA2695238383 | F8 | c.2347_2348del (p.Asn783Ter) c.*2013_*2014del (n.*2013_*2014del) c.2242_2243del (p.Asn748Ter) | |
| X | g.154931443T>A | CA414902153 | F8 | c.2347A>T (p.Asn783Tyr) c.*2013A>T (n.*2013A>T) c.2242A>T (p.Asn748Tyr) | |
| X | g.154931443T>C | CA414902156 | F8 | c.2347A>G (p.Asn783Asp) c.*2013A>G (n.*2013A>G) c.2242A>G (p.Asn748Asp) | |
| X | g.154931443T>G | CA414902160 | F8 | c.2347A>C (p.Asn783His) c.*2013A>C (n.*2013A>C) c.2242A>C (p.Asn748His) | |
| X | g.154931444T>A | CA414902163 | F8 | c.2346A>T (p.Glu782Asp) c.*2012A>T (n.*2012A>T) c.2241A>T (p.Glu747Asp) | |
| X | g.154931444T>C | CA519719881 | F8 | c.2346A>G (p.Glu782=) c.*2012A>G (n.*2012A>G) c.2241A>G (p.Glu747=) | |
| X | g.154931444T>G | CA414902166 | F8 | c.2346A>C (p.Glu782Asp) c.*2012A>C (n.*2012A>C) c.2241A>C (p.Glu747Asp) | |
| X | g.154931445T>A | CA414902173 | F8 | c.2345A>T (p.Glu782Val) c.*2011A>T (n.*2011A>T) c.2240A>T (p.Glu747Val) | |
| X | g.154931445T>C | CA414902179 | F8 | c.2345A>G (p.Glu782Gly) c.*2011A>G (n.*2011A>G) c.2240A>G (p.Glu747Gly) | |
| X | g.154931445T>G | CA414902182 | F8 | c.2345A>C (p.Glu782Ala) c.*2011A>C (n.*2011A>C) c.2240A>C (p.Glu747Ala) | |
| X | g.154931446C>A | CA414902190 | F8 | c.2344G>T (p.Glu782Ter) c.*2010G>T (n.*2010G>T) c.2239G>T (p.Glu747Ter) | |
| X | g.154931446C>G | CA414902188 | F8 | c.2344G>C (p.Glu782Gln) c.*2010G>C (n.*2010G>C) c.2239G>C (p.Glu747Gln) | |
| X | g.154931446C>T | CA414902186 | F8 | c.2344G>A (p.Glu782Lys) c.*2010G>A (n.*2010G>A) c.2239G>A (p.Glu747Lys) | gnomAD v4 |
| X | g.154931447T>A | CA519719888 | F8 | c.2343A>T (p.Pro781=) c.*2009A>T (n.*2009A>T) c.2238A>T (p.Pro746=) | |
| X | g.154931447T>C | CA519719889 | F8 | c.2343A>G (p.Pro781=) c.*2009A>G (n.*2009A>G) c.2238A>G (p.Pro746=) | |
| X | g.154931447T>G | CA519719890 | F8 | c.2343A>C (p.Pro781=) c.*2009A>C (n.*2009A>C) c.2238A>C (p.Pro746=) | |
| X | g.154931448G>A | CA414902193 | F8 | c.2342C>T (p.Pro781Leu) c.*2008C>T (n.*2008C>T) c.2237C>T (p.Pro746Leu) | |
| X | g.154931448G>C | CA414902197 | F8 | c.2342C>G (p.Pro781Arg) c.*2008C>G (n.*2008C>G) c.2237C>G (p.Pro746Arg) | |
| X | g.154931448G>T | CA414902196 | F8 | c.2342C>A (p.Pro781Gln) c.*2008C>A (n.*2008C>A) c.2237C>A (p.Pro746Gln) | |
| X | g.154931449del | CA2579744617 | F8 | c.2342del (p.Pro781GlnfsTer5) c.*2008del (n.*2008del) c.2237del (p.Pro746GlnfsTer5) | |
| X | g.154931449G>A | CA414902199 | F8 | c.2341C>T (p.Pro781Ser) c.*2007C>T (n.*2007C>T) c.2236C>T (p.Pro746Ser) | COSMIC COSMIC |
| X | g.154931449G>C | CA414902202 | F8 | c.2341C>G (p.Pro781Ala) c.*2007C>G (n.*2007C>G) c.2236C>G (p.Pro746Ala) | |
| X | g.154931449G= | CA2466836692 | F8 | c.2341C= (p.Pro781=) c.*2007C= (n.*2007C=) c.2236C= (p.Pro746=) | |
| X | g.154931449G>T | CA414902200 | F8 | c.2341C>A (p.Pro781Thr) c.*2007C>A (n.*2007C>A) c.2236C>A (p.Pro746Thr) | dbSNP gnomAD v4 |
| X | g.154931450A>C | CA414902205 | F8 | c.2340T>G (p.Ile780Met) c.*2006T>G (n.*2006T>G) c.2235T>G (p.Ile745Met) | |
| X | g.154931450A>G | CA519719898 | F8 | c.2340T>C (p.Ile780=) c.*2006T>C (n.*2006T>C) c.2235T>C (p.Ile745=) | |
| X | g.154931450A>T | CA519719899 | F8 | c.2340T>A (p.Ile780=) c.*2006T>A (n.*2006T>A) c.2235T>A (p.Ile745=) | |
| X | g.154931451A>C | CA414902208 | F8 | c.2339T>G (p.Ile780Ser) c.*2005T>G (n.*2005T>G) c.2234T>G (p.Ile745Ser) | |
| X | g.154931451A>G | CA414902210 | F8 | c.2339T>C (p.Ile780Thr) c.*2005T>C (n.*2005T>C) c.2234T>C (p.Ile745Thr) | |
| X | g.154931451A>T | CA414902212 | F8 | c.2339T>A (p.Ile780Asn) c.*2005T>A (n.*2005T>A) c.2234T>A (p.Ile745Asn) | |
| X | g.154931452T>A | CA414902216 | F8 | c.2338A>T (p.Ile780Phe) c.*2004A>T (n.*2004A>T) c.2233A>T (p.Ile745Phe) | |
| X | g.154931452T>C | CA414902219 | F8 | c.2338A>G (p.Ile780Val) c.*2004A>G (n.*2004A>G) c.2233A>G (p.Ile745Val) | |
| X | g.154931452T>G | CA414902220 | F8 | c.2338A>C (p.Ile780Leu) c.*2004A>C (n.*2004A>C) c.2233A>C (p.Ile745Leu) | COSMIC COSMIC |
| X | g.154931453T>A | CA519719908 | F8 | c.2337A>T (p.Thr779=) c.*2003A>T (n.*2003A>T) c.2232A>T (p.Thr744=) | |
| X | g.154931453T>C | CA519719910 | F8 | c.2337A>G (p.Thr779=) c.*2003A>G (n.*2003A>G) c.2232A>G (p.Thr744=) | |
| X | g.154931453T>G | CA519719911 | F8 | c.2337A>C (p.Thr779=) c.*2003A>C (n.*2003A>C) c.2232A>C (p.Thr744=) | |
| X | g.154931454G>A | CA414902223 | F8 | c.2336C>T (p.Thr779Ile) c.*2002C>T (n.*2002C>T) c.2231C>T (p.Thr744Ile) | |
| X | g.154931454G>C | CA10568335 | F8 | c.2336C>G (p.Thr779Arg) c.*2002C>G (n.*2002C>G) c.2231C>G (p.Thr744Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931454G= | CA2466836693 | F8 | c.2336C= (p.Thr779=) c.*2002C= (n.*2002C=) c.2231C= (p.Thr744=) | |
| X | g.154931454G>T | CA414902227 | F8 | c.2336C>A (p.Thr779Lys) c.*2002C>A (n.*2002C>A) c.2231C>A (p.Thr744Lys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.154931455T>A | CA414902233 | F8 | c.2335A>T (p.Thr779Ser) c.*2001A>T (n.*2001A>T) c.2230A>T (p.Thr744Ser) | |
| X | g.154931455T>C | CA414902230 | F8 | c.2335A>G (p.Thr779Ala) c.*2001A>G (n.*2001A>G) c.2230A>G (p.Thr744Ala) | COSMIC COSMIC |
| X | g.154931455T>G | CA414902232 | F8 | c.2335A>C (p.Thr779Pro) c.*2001A>C (n.*2001A>C) c.2230A>C (p.Thr744Pro) | |
| X | g.154931456G>A | CA519719920 | F8 | c.2334C>T (p.Thr778=) c.*2000C>T (n.*2000C>T) c.2229C>T (p.Thr743=) | |
| X | g.154931456G>C | CA519719923 | F8 | c.2334C>G (p.Thr778=) c.*2000C>G (n.*2000C>G) c.2229C>G (p.Thr743=) | |
| X | g.154931456G= | CA2466836694 | F8 | c.2334C= (p.Thr778=) c.*2000C= (n.*2000C=) c.2229C= (p.Thr743=) | |
| X | g.154931456G>T | CA519719921 | F8 | c.2334C>A (p.Thr778=) c.*2000C>A (n.*2000C>A) c.2229C>A (p.Thr743=) | dbSNP |
| X | g.154931456_154931457insTTGG | CA2824314933 | F8 | c.2334_2335insCAAC (p.Thr779GlnfsTer7) c.*2000_*2001insCAAC (n.*2000_*2001insCAAC) c.2229_2230insCAAC (p.Thr744GlnfsTer7) | |
| X | g.154931457G>A | CA414902236 | F8 | c.2333C>T (p.Thr778Ile) c.*1999C>T (n.*1999C>T) c.2228C>T (p.Thr743Ile) | |
| X | g.154931457G>C | CA414902239 | F8 | c.2333C>G (p.Thr778Ser) c.*1999C>G (n.*1999C>G) c.2228C>G (p.Thr743Ser) | |
| X | g.154931457G>T | CA414902241 | F8 | c.2333C>A (p.Thr778Asn) c.*1999C>A (n.*1999C>A) c.2228C>A (p.Thr743Asn) | |
| X | g.154931458T>A | CA414902245 | F8 | c.2332A>T (p.Thr778Ser) c.*1998A>T (n.*1998A>T) c.2227A>T (p.Thr743Ser) | |
| X | g.154931458T>C | CA414902247 | F8 | c.2332A>G (p.Thr778Ala) c.*1998A>G (n.*1998A>G) c.2227A>G (p.Thr743Ala) | |
| X | g.154931458T>G | CA414902250 | F8 | c.2332A>C (p.Thr778Pro) c.*1998A>C (n.*1998A>C) c.2227A>C (p.Thr743Pro) | |
| X | g.154931458_154931459delinsTG | CA2466836695 | F8 | c.2331_2332delinsCA (p.Ala777=) c.*1997_*1998delinsCA (n.*1997_*1998delinsCA) c.2226_2227delinsCA (p.Ala742=) | |
| X | g.154931459G>A | CA519719926 | F8 | c.2331C>T (p.Ala777=) c.*1997C>T (n.*1997C>T) c.2226C>T (p.Ala742=) | |
| X | g.154931459G>C | CA519719928 | F8 | c.2331C>G (p.Ala777=) c.*1997C>G (n.*1997C>G) c.2226C>G (p.Ala742=) | |
| X | g.154931459G>T | CA519719929 | F8 | c.2331C>A (p.Ala777=) c.*1997C>A (n.*1997C>A) c.2226C>A (p.Ala742=) | |
| X | g.154931460del | CA873344286 | F8 | c.2331del (p.Thr778ProfsTer8) c.*1997del (n.*1997del) c.2226del (p.Thr743ProfsTer8) | dbSNP |
| X | g.154931460G>A | CA414902253 | F8 | c.2330C>T (p.Ala777Val) c.*1996C>T (n.*1996C>T) c.2225C>T (p.Ala742Val) | |
| X | g.154931460G>C | CA414902254 | F8 | c.2330C>G (p.Ala777Gly) c.*1996C>G (n.*1996C>G) c.2225C>G (p.Ala742Gly) | |
| X | g.154931460G>T | CA414902257 | F8 | c.2330C>A (p.Ala777Asp) c.*1996C>A (n.*1996C>A) c.2225C>A (p.Ala742Asp) | |
| X | g.154931460_154931468del | CA2824314934 | F8 | c.2322_2330del (p.Gln774_Ala777delinsHis) c.*1988_*1996del (n.*1988_*1996del) c.2217_2225del (p.Gln739_Ala742delinsHis) | |
| X | g.154931461C>A | CA414902266 | F8 | c.2329G>T (p.Ala777Ser) c.*1995G>T (n.*1995G>T) c.2224G>T (p.Ala742Ser) | |
| X | g.154931461C>G | CA414902264 | F8 | c.2329G>C (p.Ala777Pro) c.*1995G>C (n.*1995G>C) c.2224G>C (p.Ala742Pro) | |
| X | g.154931461C>T | CA414902261 | F8 | c.2329G>A (p.Ala777Thr) c.*1995G>A (n.*1995G>A) c.2224G>A (p.Ala742Thr) | |
| X | g.154931462A= | CA2466836696 | F8 | c.2328T= (p.Asn776=) c.*1994T= (n.*1994T=) c.2223T= (p.Asn741=) | |
| X | g.154931462A>C | CA414902269 | F8 | c.2328T>G (p.Asn776Lys) c.*1994T>G (n.*1994T>G) c.2223T>G (p.Asn741Lys) | |
| X | g.154931462A>G | CA10568336 | F8 | c.2328T>C (p.Asn776=) c.*1994T>C (n.*1994T>C) c.2223T>C (p.Asn741=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931462A>T | CA414902274 | F8 | c.2328T>A (p.Asn776Lys) c.*1994T>A (n.*1994T>A) c.2223T>A (p.Asn741Lys) | |
| X | g.154931463T>A | CA414902277 | F8 | c.2327A>T (p.Asn776Ile) c.*1993A>T (n.*1993A>T) c.2222A>T (p.Asn741Ile) | |
| X | g.154931463T>C | CA414902280 | F8 | c.2327A>G (p.Asn776Ser) c.*1993A>G (n.*1993A>G) c.2222A>G (p.Asn741Ser) | |
| X | g.154931463T>G | CA414902283 | F8 | c.2327A>C (p.Asn776Thr) c.*1993A>C (n.*1993A>C) c.2222A>C (p.Asn741Thr) | gnomAD v4 |
| X | g.154931464T>A | CA414902286 | F8 | c.2326A>T (p.Asn776Tyr) c.*1992A>T (n.*1992A>T) c.2221A>T (p.Asn741Tyr) | |
| X | g.154931464T>C | CA414902288 | F8 | c.2326A>G (p.Asn776Asp) c.*1992A>G (n.*1992A>G) c.2221A>G (p.Asn741Asp) | |
| X | g.154931464T>G | CA414902290 | F8 | c.2326A>C (p.Asn776His) c.*1992A>C (n.*1992A>C) c.2221A>C (p.Asn741His) | |
| X | g.154931465A>C | CA414902292 | F8 | c.2325T>G (p.Phe775Leu) c.*1991T>G (n.*1991T>G) c.2220T>G (p.Phe740Leu) | |
| X | g.154931465A>G | CA519719949 | F8 | c.2325T>C (p.Phe775=) c.*1991T>C (n.*1991T>C) c.2220T>C (p.Phe740=) | |
| X | g.154931465A>T | CA414902295 | F8 | c.2325T>A (p.Phe775Leu) c.*1991T>A (n.*1991T>A) c.2220T>A (p.Phe740Leu) | |
| X | g.154931466A>C | CA414902301 | F8 | c.2324T>G (p.Phe775Cys) c.*1990T>G (n.*1990T>G) c.2219T>G (p.Phe740Cys) | |
| X | g.154931466A>G | CA414902297 | F8 | c.2324T>C (p.Phe775Ser) c.*1990T>C (n.*1990T>C) c.2219T>C (p.Phe740Ser) | |
| X | g.154931466A>T | CA414902300 | F8 | c.2324T>A (p.Phe775Tyr) c.*1990T>A (n.*1990T>A) c.2219T>A (p.Phe740Tyr) | |
| X | g.154931467A>C | CA414902302 | F8 | c.2323T>G (p.Phe775Val) c.*1989T>G (n.*1989T>G) c.2218T>G (p.Phe740Val) | |
| X | g.154931467A>G | CA414902303 | F8 | c.2323T>C (p.Phe775Leu) c.*1989T>C (n.*1989T>C) c.2218T>C (p.Phe740Leu) | |
| X | g.154931467A>T | CA414902304 | F8 | c.2323T>A (p.Phe775Ile) c.*1989T>A (n.*1989T>A) c.2218T>A (p.Phe740Ile) | |
| X | g.154931468T>A | CA414902306 | F8 | c.2322A>T (p.Gln774His) c.*1988A>T (n.*1988A>T) c.2217A>T (p.Gln739His) | |
| X | g.154931468T>C | CA519719954 | F8 | c.2322A>G (p.Gln774=) c.*1988A>G (n.*1988A>G) c.2217A>G (p.Gln739=) | |
| X | g.154931468T>G | CA414902308 | F8 | c.2322A>C (p.Gln774His) c.*1988A>C (n.*1988A>C) c.2217A>C (p.Gln739His) | |
| X | g.154931469del | CA2695238384 | F8 | c.2322del (p.Gln774HisfsTer12) c.*1988del (n.*1988del) c.2217del (p.Gln739HisfsTer12) | |
| X | g.154931469T>A | CA414902312 | F8 | c.2321A>T (p.Gln774Leu) c.*1987A>T (n.*1987A>T) c.2216A>T (p.Gln739Leu) | |
| X | g.154931469T>C | CA414902313 | F8 | c.2321A>G (p.Gln774Arg) c.*1987A>G (n.*1987A>G) c.2216A>G (p.Gln739Arg) | |
| X | g.154931469T>G | CA414902315 | F8 | c.2321A>C (p.Gln774Pro) c.*1987A>C (n.*1987A>C) c.2216A>C (p.Gln739Pro) | |
| X | g.154931470G>A | CA414902317 | F8 | c.2320C>T (p.Gln774Ter) c.*1986C>T (n.*1986C>T) c.2215C>T (p.Gln739Ter) | |
| X | g.154931470G>C | CA414902319 | F8 | c.2320C>G (p.Gln774Glu) c.*1986C>G (n.*1986C>G) c.2215C>G (p.Gln739Glu) | |
| X | g.154931470G>T | CA414902322 | F8 | c.2320C>A (p.Gln774Lys) c.*1986C>A (n.*1986C>A) c.2215C>A (p.Gln739Lys) | |
| X | g.154931471C>A | CA414902328 | F8 | c.2319G>T (p.Lys773Asn) c.*1985G>T (n.*1985G>T) c.2214G>T (p.Lys738Asn) | |
| X | g.154931471C>G | CA414902325 | F8 | c.2319G>C (p.Lys773Asn) c.*1985G>C (n.*1985G>C) c.2214G>C (p.Lys738Asn) | |
| X | g.154931471C>T | CA519719960 | F8 | c.2319G>A (p.Lys773=) c.*1985G>A (n.*1985G>A) c.2214G>A (p.Lys738=) | gnomAD v4 |
| X | g.154931472T>A | CA414902329 | F8 | c.2318A>T (p.Lys773Met) c.*1984A>T (n.*1984A>T) c.2213A>T (p.Lys738Met) | |
| X | g.154931472T>C | CA414902334 | F8 | c.2318A>G (p.Lys773Arg) c.*1984A>G (n.*1984A>G) c.2213A>G (p.Lys738Arg) | |
| X | g.154931472T>G | CA414902331 | F8 | c.2318A>C (p.Lys773Thr) c.*1984A>C (n.*1984A>C) c.2213A>C (p.Lys738Thr) | |
| X | g.154931474_154931475del | CA2695238385 | F8 | c.2317_2318del (p.Lys773AlafsTer3) c.*1983_*1984del (n.*1983_*1984del) c.2212_2213del (p.Lys738AlafsTer3) | |
| X | g.154931473T>A | CA414902338 | F8 | c.2317A>T (p.Lys773Ter) c.*1983A>T (n.*1983A>T) c.2212A>T (p.Lys738Ter) | |
| X | g.154931473T>C | CA414902339 | F8 | c.2317A>G (p.Lys773Glu) c.*1983A>G (n.*1983A>G) c.2212A>G (p.Lys738Glu) | |
| X | g.154931473T>G | CA414902340 | F8 | c.2317A>C (p.Lys773Gln) c.*1983A>C (n.*1983A>C) c.2212A>C (p.Lys738Gln) | |
| X | g.154931473_154931474insGGT | CA2824314935 | F8 | c.2317_2318insCCA (p.Gln772_Lys773insThr) c.*1983_*1984insCCA (n.*1983_*1984insCCA) c.2212_2213insCCA (p.Gln737_Lys738insThr) | |
| X | g.154931474T>A | CA414902343 | F8 | c.2316A>T (p.Gln772His) c.*1982A>T (n.*1982A>T) c.2211A>T (p.Gln737His) | |
| X | g.154931474T>C | CA519719971 | F8 | c.2316A>G (p.Gln772=) c.*1982A>G (n.*1982A>G) c.2211A>G (p.Gln737=) | |
| X | g.154931474T>G | CA414902345 | F8 | c.2316A>C (p.Gln772His) c.*1982A>C (n.*1982A>C) c.2211A>C (p.Gln737His) | |
| X | g.154931475T>A | CA414902350 | F8 | c.2315A>T (p.Gln772Leu) c.*1981A>T (n.*1981A>T) c.2210A>T (p.Gln737Leu) | |
| X | g.154931475T>C | CA414902352 | F8 | c.2315A>G (p.Gln772Arg) c.*1981A>G (n.*1981A>G) c.2210A>G (p.Gln737Arg) | |
| X | g.154931475T>G | CA414902354 | F8 | c.2315A>C (p.Gln772Pro) c.*1981A>C (n.*1981A>C) c.2210A>C (p.Gln737Pro) | |
| X | g.154931476G>A | CA414902359 | F8 | c.2314C>T (p.Gln772Ter) c.*1980C>T (n.*1980C>T) c.2209C>T (p.Gln737Ter) | |
| X | g.154931476G>C | CA414902362 | F8 | c.2314C>G (p.Gln772Glu) c.*1980C>G (n.*1980C>G) c.2209C>G (p.Gln737Glu) | |
| X | g.154931476G>T | CA414902364 | F8 | c.2314C>A (p.Gln772Lys) c.*1980C>A (n.*1980C>A) c.2209C>A (p.Gln737Lys) | gnomAD v4 |
| X | g.154931477C>A | CA414902368 | F8 | c.2313G>T (p.Arg771Ser) c.*1979G>T (n.*1979G>T) c.2208G>T (p.Arg736Ser) | |
| X | g.154931477C= | CA2466836697 | F8 | c.2313G= (p.Arg771=) c.*1979G= (n.*1979G=) c.2208G= (p.Arg736=) | |
| X | g.154931477C>G | CA414902367 | F8 | c.2313G>C (p.Arg771Ser) c.*1979G>C (n.*1979G>C) c.2208G>C (p.Arg736Ser) | |
| X | g.154931477C>T | CA519719977 | F8 | c.2313G>A (p.Arg771=) c.*1979G>A (n.*1979G>A) c.2208G>A (p.Arg736=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931478C>A | CA414902371 | F8 | c.2312G>T (p.Arg771Met) c.*1978G>T (n.*1978G>T) c.2207G>T (p.Arg736Met) | |
| X | g.154931478C>G | CA414902373 | F8 | c.2312G>C (p.Arg771Thr) c.*1978G>C (n.*1978G>C) c.2207G>C (p.Arg736Thr) | |
| X | g.154931478C>T | CA414902376 | F8 | c.2312G>A (p.Arg771Lys) c.*1978G>A (n.*1978G>A) c.2207G>A (p.Arg736Lys) | |
| X | g.154931479T>A | CA414902378 | F8 | c.2311A>T (p.Arg771Trp) c.*1977A>T (n.*1977A>T) c.2206A>T (p.Arg736Trp) | |
| X | g.154931479T>C | CA414902380 | F8 | c.2311A>G (p.Arg771Gly) c.*1977A>G (n.*1977A>G) c.2206A>G (p.Arg736Gly) | |
| X | g.154931479T>G | CA519719980 | F8 | c.2311A>C (p.Arg771=) c.*1977A>C (n.*1977A>C) c.2206A>C (p.Arg736=) | |
| X | g.154931480A>C | CA519719984 | F8 | c.2310T>G (p.Thr770=) c.*1976T>G (n.*1976T>G) c.2205T>G (p.Thr735=) | |
| X | g.154931480A>G | CA519719981 | F8 | c.2310T>C (p.Thr770=) c.*1976T>C (n.*1976T>C) c.2205T>C (p.Thr735=) | |
| X | g.154931480A>T | CA519719983 | F8 | c.2310T>A (p.Thr770=) c.*1976T>A (n.*1976T>A) c.2205T>A (p.Thr735=) | |
| X | g.154931481G>A | CA414902381 | F8 | c.2309C>T (p.Thr770Ile) c.*1975C>T (n.*1975C>T) c.2204C>T (p.Thr735Ile) | dbSNP |
| X | g.154931481G>C | CA337325785 | F8 | c.2309C>G (p.Thr770Ser) c.*1975C>G (n.*1975C>G) c.2204C>G (p.Thr735Ser) | dbSNP gnomAD v4 |
| X | g.154931481G= | CA2466836698 | F8 | c.2309C= (p.Thr770=) c.*1975C= (n.*1975C=) c.2204C= (p.Thr735=) | |
| X | g.154931481G>T | CA414902385 | F8 | c.2309C>A (p.Thr770Asn) c.*1975C>A (n.*1975C>A) c.2204C>A (p.Thr735Asn) | |
| X | g.154931482T>A | CA414902387 | F8 | c.2308A>T (p.Thr770Ser) c.*1974A>T (n.*1974A>T) c.2203A>T (p.Thr735Ser) | |
| X | g.154931482T>C | CA414902389 | F8 | c.2308A>G (p.Thr770Ala) c.*1974A>G (n.*1974A>G) c.2203A>G (p.Thr735Ala) | gnomAD v4 |
| X | g.154931482T>G | CA414902391 | F8 | c.2308A>C (p.Thr770Pro) c.*1974A>C (n.*1974A>C) c.2203A>C (p.Thr735Pro) | |
| X | g.154931483G>A | CA519719987 | F8 | c.2307C>T (p.Ser769=) c.*1973C>T (n.*1973C>T) c.2202C>T (p.Ser734=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931483G>C | CA414902395 | F8 | c.2307C>G (p.Ser769Arg) c.*1973C>G (n.*1973C>G) c.2202C>G (p.Ser734Arg) | |
| X | g.154931483G= | CA2466836699 | F8 | c.2307C= (p.Ser769=) c.*1973C= (n.*1973C=) c.2202C= (p.Ser734=) | |
| X | g.154931483G>T | CA414902393 | F8 | c.2307C>A (p.Ser769Arg) c.*1973C>A (n.*1973C>A) c.2202C>A (p.Ser734Arg) | |
| X | g.154931484C>A | CA414902400 | F8 | c.2306G>T (p.Ser769Ile) c.*1972G>T (n.*1972G>T) c.2201G>T (p.Ser734Ile) | |
| X | g.154931484C= | CA2466836700 | F8 | c.2306G= (p.Ser769=) c.*1972G= (n.*1972G=) c.2201G= (p.Ser734=) | |
| X | g.154931484C>G | CA414902402 | F8 | c.2306G>C (p.Ser769Thr) c.*1972G>C (n.*1972G>C) c.2201G>C (p.Ser734Thr) | |
| X | g.154931484C>T | CA10568337 | F8 | c.2306G>A (p.Ser769Asn) c.*1972G>A (n.*1972G>A) c.2201G>A (p.Ser734Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.154931485T>A | CA414902407 | F8 | c.2305A>T (p.Ser769Cys) c.*1971A>T (n.*1971A>T) c.2200A>T (p.Ser734Cys) | |
| X | g.154931485T>C | CA414902408 | F8 | c.2305A>G (p.Ser769Gly) c.*1971A>G (n.*1971A>G) c.2200A>G (p.Ser734Gly) | |
| X | g.154931485T>G | CA414902410 | F8 | c.2305A>C (p.Ser769Arg) c.*1971A>C (n.*1971A>C) c.2200A>C (p.Ser734Arg) | |
| X | g.154931486A>C | CA519719993 | F8 | c.2304T>G (p.Pro768=) c.*1970T>G (n.*1970T>G) c.2199T>G (p.Pro733=) | gnomAD v4 |
| X | g.154931486A>G | CA519719994 | F8 | c.2304T>C (p.Pro768=) c.*1970T>C (n.*1970T>C) c.2199T>C (p.Pro733=) | |
| X | g.154931486A>T | CA519719996 | F8 | c.2304T>A (p.Pro768=) c.*1970T>A (n.*1970T>A) c.2199T>A (p.Pro733=) | |
| X | g.154931487G>A | CA414902412 | F8 | c.2303C>T (p.Pro768Leu) c.*1969C>T (n.*1969C>T) c.2198C>T (p.Pro733Leu) | |
| X | g.154931487G>C | CA414902414 | F8 | c.2303C>G (p.Pro768Arg) c.*1969C>G (n.*1969C>G) c.2198C>G (p.Pro733Arg) | |
| X | g.154931487G>T | CA414902417 | F8 | c.2303C>A (p.Pro768His) c.*1969C>A (n.*1969C>A) c.2198C>A (p.Pro733His) | dbSNP |
| X | g.154931488G>A | CA414902418 | F8 | c.2302C>T (p.Pro768Ser) c.*1968C>T (n.*1968C>T) c.2197C>T (p.Pro733Ser) | |
| X | g.154931488G>C | CA414902424 | F8 | c.2302C>G (p.Pro768Ala) c.*1968C>G (n.*1968C>G) c.2197C>G (p.Pro733Ala) | |
| X | g.154931488G>T | CA414902426 | F8 | c.2302C>A (p.Pro768Thr) c.*1968C>A (n.*1968C>A) c.2197C>A (p.Pro733Thr) | |
| X | g.154931489G>A | CA519720000 | F8 | c.2301C>T (p.His767=) c.*1967C>T (n.*1967C>T) c.2196C>T (p.His732=) | dbSNP |
| X | g.154931489G>C | CA414902429 | F8 | c.2301C>G (p.His767Gln) c.*1967C>G (n.*1967C>G) c.2196C>G (p.His732Gln) | |
| X | g.154931489G= | CA2466836701 | F8 | c.2301C= (p.His767=) c.*1967C= (n.*1967C=) c.2196C= (p.His732=) | |
| X | g.154931489G>T | CA414902428 | F8 | c.2301C>A (p.His767Gln) c.*1967C>A (n.*1967C>A) c.2196C>A (p.His732Gln) | |
| X | g.154931490T>A | CA414902432 | F8 | c.2300A>T (p.His767Leu) c.*1966A>T (n.*1966A>T) c.2195A>T (p.His732Leu) | |
| X | g.154931490T>C | CA10568338 | F8 | c.2300A>G (p.His767Arg) c.*1966A>G (n.*1966A>G) c.2195A>G (p.His732Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931490T>G | CA414902433 | F8 | c.2300A>C (p.His767Pro) c.*1966A>C (n.*1966A>C) c.2195A>C (p.His732Pro) | |
| X | g.154931490T= | CA2466836702 | F8 | c.2300A= (p.His767=) c.*1966A= (n.*1966A=) c.2195A= (p.His732=) | |
| X | g.154931491G>A | CA10568339 | F8 | c.2299C>T (p.His767Tyr) c.*1965C>T (n.*1965C>T) c.2194C>T (p.His732Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154931491G>C | CA414902435 | F8 | c.2299C>G (p.His767Asp) c.*1965C>G (n.*1965C>G) c.2194C>G (p.His732Asp) | |
| X | g.154931491G= | CA2466836703 | F8 | c.2299C= (p.His767=) c.*1965C= (n.*1965C=) c.2194C= (p.His732=) | |
| X | g.154931491G>T | CA414902437 | F8 | c.2299C>A (p.His767Asn) c.*1965C>A (n.*1965C>A) c.2194C>A (p.His732Asn) | |
| X | g.154931491_154931492delinsGT | CA2466836704 | F8 | c.2298_2299delinsAC (p.Arg766=) c.*1964_*1965delinsAC (n.*1964_*1965delinsAC) c.2193_2194delinsAC (p.Arg731=) | |
| X | g.154931492del | CA2466836705 | F8 | c.2298del (p.Arg766SerfsTer20) c.*1964del (n.*1964del) c.2193del (p.Arg731SerfsTer20) | dbSNP |
| X | g.154931492T>A | CA414902439 | F8 | c.2298A>T (p.Arg766Ser) c.*1964A>T (n.*1964A>T) c.2193A>T (p.Arg731Ser) | |
| X | g.154931492T>C | CA519720004 | F8 | c.2298A>G (p.Arg766=) c.*1964A>G (n.*1964A>G) c.2193A>G (p.Arg731=) | |
| X | g.154931492T>G | CA414902442 | F8 | c.2298A>C (p.Arg766Ser) c.*1964A>C (n.*1964A>C) c.2193A>C (p.Arg731Ser) | |
| X | g.154931493C>A | CA414902444 | F8 | c.2297G>T (p.Arg766Ile) c.*1963G>T (n.*1963G>T) c.2192G>T (p.Arg731Ile) | COSMIC COSMIC |
| X | g.154931493C>G | CA414902447 | F8 | c.2297G>C (p.Arg766Thr) c.*1963G>C (n.*1963G>C) c.2192G>C (p.Arg731Thr) | |
| X | g.154931493C>T | CA414902448 | F8 | c.2297G>A (p.Arg766Lys) c.*1963G>A (n.*1963G>A) c.2192G>A (p.Arg731Lys) | |
| X | g.154931494T>A | CA414902451 | F8 | c.2296A>T (p.Arg766Ter) c.*1962A>T (n.*1962A>T) c.2191A>T (p.Arg731Ter) | |
| X | g.154931494T>C | CA414902453 | F8 | c.2296A>G (p.Arg766Gly) c.*1962A>G (n.*1962A>G) c.2191A>G (p.Arg731Gly) | |
| X | g.154931494T>G | CA519720011 | F8 | c.2296A>C (p.Arg766=) c.*1962A>C (n.*1962A>C) c.2191A>C (p.Arg731=) | |
| X | g.154931495T>A | CA519720012 | F8 | c.2295A>T (p.Ser765=) c.*1961A>T (n.*1961A>T) c.2190A>T (p.Ser730=) | |
| X | g.154931495T>C | CA519720013 | F8 | c.2295A>G (p.Ser765=) c.*1961A>G (n.*1961A>G) c.2190A>G (p.Ser730=) | dbSNP gnomAD v4 |
| X | g.154931495T>G | CA519720015 | F8 | c.2295A>C (p.Ser765=) c.*1961A>C (n.*1961A>C) c.2190A>C (p.Ser730=) | gnomAD v4 |
| X | g.154931495T= | CA2466836706 | F8 | c.2295A= (p.Ser765=) c.*1961A= (n.*1961A=) c.2190A= (p.Ser730=) | |
| X | g.154931496G>A | CA414902456 | F8 | c.2294C>T (p.Ser765Leu) c.*1960C>T (n.*1960C>T) c.2189C>T (p.Ser730Leu) | |
| X | g.154931496G>C | CA414902458 | F8 | c.2294C>G (p.Ser765Ter) c.*1960C>G (n.*1960C>G) c.2189C>G (p.Ser730Ter) | dbSNP |
| X | g.154931496G= | CA2466836707 | F8 | c.2294C= (p.Ser765=) c.*1960C= (n.*1960C=) c.2189C= (p.Ser730=) | |
| X | g.154931496G>T | CA414902455 | F8 | c.2294C>A (p.Ser765Ter) c.*1960C>A (n.*1960C>A) c.2189C>A (p.Ser730Ter) | |
| X | g.154931497A>C | CA414902461 | F8 | c.2293T>G (p.Ser765Ala) c.*1959T>G (n.*1959T>G) c.2188T>G (p.Ser730Ala) | |
| X | g.154931497A>G | CA414902459 | F8 | c.2293T>C (p.Ser765Pro) c.*1959T>C (n.*1959T>C) c.2188T>C (p.Ser730Pro) | |
| X | g.154931497A>T | CA414902463 | F8 | c.2293T>A (p.Ser765Thr) c.*1959T>A (n.*1959T>A) c.2188T>A (p.Ser730Thr) | |
| X | g.154931498A>C | CA414902465 | F8 | c.2292T>G (p.Asn764Lys) c.*1958T>G (n.*1958T>G) c.2187T>G (p.Asn729Lys) | |
| X | g.154931498A>G | CA519720024 | F8 | c.2292T>C (p.Asn764=) c.*1958T>C (n.*1958T>C) c.2187T>C (p.Asn729=) | |
| X | g.154931498A>T | CA414902466 | F8 | c.2292T>A (p.Asn764Lys) c.*1958T>A (n.*1958T>A) c.2187T>A (p.Asn729Lys) | |
| X | g.154931499T>A | CA414902468 | F8 | c.2291A>T (p.Asn764Ile) c.*1957A>T (n.*1957A>T) c.2186A>T (p.Asn729Ile) | |
| X | g.154931499T>C | CA414902470 | F8 | c.2291A>G (p.Asn764Ser) c.*1957A>G (n.*1957A>G) c.2186A>G (p.Asn729Ser) | |
| X | g.154931499T>G | CA414902471 | F8 | c.2291A>C (p.Asn764Thr) c.*1957A>C (n.*1957A>C) c.2186A>C (p.Asn729Thr) | |
| X | g.154931500T>A | CA414902472 | F8 | c.2290A>T (p.Asn764Tyr) c.*1956A>T (n.*1956A>T) c.2185A>T (p.Asn729Tyr) | |
| X | g.154931500T>C | CA414902473 | F8 | c.2290A>G (p.Asn764Asp) c.*1956A>G (n.*1956A>G) c.2185A>G (p.Asn729Asp) | |
| X | g.154931500T>G | CA414902474 | F8 | c.2290A>C (p.Asn764His) c.*1956A>C (n.*1956A>C) c.2185A>C (p.Asn729His) | |
| X | g.154931501C>A | CA337325823 | F8 | c.2289G>T (p.Gln763His) c.*1955G>T (n.*1955G>T) c.2184G>T (p.Gln728His) | dbSNP gnomAD v4 |
| X | g.154931501C= | CA2466836708 | F8 | c.2289G= (p.Gln763=) c.*1955G= (n.*1955G=) c.2184G= (p.Gln728=) | |
| X | g.154931501C>G | CA414902479 | F8 | c.2289G>C (p.Gln763His) c.*1955G>C (n.*1955G>C) c.2184G>C (p.Gln728His) | |
| X | g.154931501C>T | CA519720034 | F8 | c.2289G>A (p.Gln763=) c.*1955G>A (n.*1955G>A) c.2184G>A (p.Gln728=) | COSMIC COSMIC |
| X | g.154931502T>A | CA414902480 | F8 | c.2288A>T (p.Gln763Leu) c.*1954A>T (n.*1954A>T) c.2183A>T (p.Gln728Leu) | |
| X | g.154931502T>C | CA414902483 | F8 | c.2288A>G (p.Gln763Arg) c.*1954A>G (n.*1954A>G) c.2183A>G (p.Gln728Arg) | |
| X | g.154931502T>G | CA414902485 | F8 | c.2288A>C (p.Gln763Pro) c.*1954A>C (n.*1954A>C) c.2183A>C (p.Gln728Pro) | |
| X | g.154931503G>A | CA414902492 | F8 | c.2287C>T (p.Gln763Ter) c.*1953C>T (n.*1953C>T) c.2182C>T (p.Gln728Ter) | |
| X | g.154931503G>C | CA414902490 | F8 | c.2287C>G (p.Gln763Glu) c.*1953C>G (n.*1953C>G) c.2182C>G (p.Gln728Glu) | gnomAD v4 |
| X | g.154931503G>T | CA414902491 | F8 | c.2287C>A (p.Gln763Lys) c.*1953C>A (n.*1953C>A) c.2182C>A (p.Gln728Lys) | |
| X | g.154931504G>A | CA519720041 | F8 | c.2286C>T (p.Ser762=) c.*1952C>T (n.*1952C>T) c.2181C>T (p.Ser727=) | |
| X | g.154931504G>C | CA519720042 | F8 | c.2286C>G (p.Ser762=) c.*1952C>G (n.*1952C>G) c.2181C>G (p.Ser727=) | |
| X | g.154931504G>T | CA519720043 | F8 | c.2286C>A (p.Ser762=) c.*1952C>A (n.*1952C>A) c.2181C>A (p.Ser727=) | |
| X | g.154931505G>A | CA414902496 | F8 | c.2285C>T (p.Ser762Phe) c.*1951C>T (n.*1951C>T) c.2180C>T (p.Ser727Phe) | |
| X | g.154931505G>C | CA414902498 | F8 | c.2285C>G (p.Ser762Cys) c.*1951C>G (n.*1951C>G) c.2180C>G (p.Ser727Cys) | gnomAD v4 |
| X | g.154931505G>T | CA414902499 | F8 | c.2285C>A (p.Ser762Tyr) c.*1951C>A (n.*1951C>A) c.2180C>A (p.Ser727Tyr) | |
| X | g.154931506A>C | CA414902505 | F8 | c.2284T>G (p.Ser762Ala) c.*1950T>G (n.*1950T>G) c.2179T>G (p.Ser727Ala) | |
| X | g.154931506A>G | CA414902508 | F8 | c.2284T>C (p.Ser762Pro) c.*1950T>C (n.*1950T>C) c.2179T>C (p.Ser727Pro) | |
| X | g.154931506A>T | CA414902509 | F8 | c.2284T>A (p.Ser762Thr) c.*1950T>A (n.*1950T>A) c.2179T>A (p.Ser727Thr) | |
| X | g.154931507G>A | CA519720050 | F8 | c.2283C>T (p.Phe761=) c.*1949C>T (n.*1949C>T) c.2178C>T (p.Phe726=) | |
| X | g.154931507G>C | CA414902511 | F8 | c.2283C>G (p.Phe761Leu) c.*1949C>G (n.*1949C>G) c.2178C>G (p.Phe726Leu) | |
| X | g.154931507G>T | CA414902514 | F8 | c.2283C>A (p.Phe761Leu) c.*1949C>A (n.*1949C>A) c.2178C>A (p.Phe726Leu) | gnomAD v4 |