Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.53984938C>ACA413251526PHF8c.2116G>T (p.Ala706Ser)
c.2419G>T (p.Ala807Ser)
c.*874G>T (n.*874G>T)
c.*1861G>T (n.*1861G>T)
n.1783G>T
c.2368G>T (p.Ala790Ser)
c.2527G>T (p.Ala843Ser)
c.2130G>T
c.1709G>T
c.846G>T (p.Glu282Asp)
c.2224G>T (p.Ala742Ser)
Xg.53984938C>GCA413251527PHF8c.2116G>C (p.Ala706Pro)
c.2419G>C (p.Ala807Pro)
c.*874G>C (n.*874G>C)
c.*1861G>C (n.*1861G>C)
n.1783G>C
c.2368G>C (p.Ala790Pro)
c.2527G>C (p.Ala843Pro)
c.2130G>C
c.1709G>C
c.846G>C (p.Glu282Asp)
c.2224G>C (p.Ala742Pro)
Xg.53984938C>TCA413251528PHF8c.2116G>A (p.Ala706Thr)
c.2419G>A (p.Ala807Thr)
c.*874G>A (n.*874G>A)
c.*1861G>A (n.*1861G>A)
n.1783G>A
c.2368G>A (p.Ala790Thr)
c.2527G>A (p.Ala843Thr)
c.2130G>A
c.1709G>A
c.846G>A (p.Glu282=)
c.2224G>A (p.Ala742Thr)
Xg.53984939T>ACA413251529PHF8c.2115A>T (p.Gly705=)
c.2418A>T (p.Gly806=)
c.*873A>T (n.*873A>T)
c.*1860A>T (n.*1860A>T)
n.1782A>T
c.2367A>T (p.Gly789=)
c.2526A>T (p.Gly842=)
c.2129A>T
c.1708A>T
c.845A>T (p.Glu282Val)
c.2223A>T (p.Gly741=)
Xg.53984939T>CCA413251531PHF8c.2115A>G (p.Gly705=)
c.2418A>G (p.Gly806=)
c.*873A>G (n.*873A>G)
c.*1860A>G (n.*1860A>G)
n.1782A>G
c.2367A>G (p.Gly789=)
c.2526A>G (p.Gly842=)
c.2129A>G
c.1708A>G
c.845A>G (p.Glu282Gly)
c.2223A>G (p.Gly741=)
Xg.53984939T>GCA413251534PHF8c.2115A>C (p.Gly705=)
c.2418A>C (p.Gly806=)
c.*873A>C (n.*873A>C)
c.*1860A>C (n.*1860A>C)
n.1782A>C
c.2367A>C (p.Gly789=)
c.2526A>C (p.Gly842=)
c.2129A>C
c.1708A>C
c.845A>C (p.Glu282Ala)
c.2223A>C (p.Gly741=)
Xg.53984940C>ACA413251539PHF8c.2114G>T (p.Gly705Val)
c.2417G>T (p.Gly806Val)
c.*872G>T (n.*872G>T)
c.*1859G>T (n.*1859G>T)
n.1781G>T
c.2366G>T (p.Gly789Val)
c.2525G>T (p.Gly842Val)
c.2128G>T
c.1707G>T
c.844G>T (p.Glu282Ter)
c.2222G>T (p.Gly741Val)
Xg.53984940C>GCA413251541PHF8c.2114G>C (p.Gly705Ala)
c.2417G>C (p.Gly806Ala)
c.*872G>C (n.*872G>C)
c.*1859G>C (n.*1859G>C)
n.1781G>C
c.2366G>C (p.Gly789Ala)
c.2525G>C (p.Gly842Ala)
c.2128G>C
c.1707G>C
c.844G>C (p.Glu282Gln)
c.2222G>C (p.Gly741Ala)
Xg.53984940C>TCA413251542PHF8c.2114G>A (p.Gly705Glu)
c.2417G>A (p.Gly806Glu)
c.*872G>A (n.*872G>A)
c.*1859G>A (n.*1859G>A)
n.1781G>A
c.2366G>A (p.Gly789Glu)
c.2525G>A (p.Gly842Glu)
c.2128G>A
c.1707G>A
c.844G>A (p.Glu282Lys)
c.2222G>A (p.Gly741Glu)
Xg.53984941C>ACA413251544PHF8c.2113G>T (p.Gly705Ter)
c.2416G>T (p.Gly806Ter)
c.*871G>T (n.*871G>T)
c.*1858G>T (n.*1858G>T)
n.1780G>T
c.2365G>T (p.Gly789Ter)
c.2524G>T (p.Gly842Ter)
c.2127G>T
c.1706G>T
c.843G>T (p.Trp281Cys)
c.2221G>T (p.Gly741Ter)
Xg.53984941C>GCA413251547PHF8c.2113G>C (p.Gly705Arg)
c.2416G>C (p.Gly806Arg)
c.*871G>C (n.*871G>C)
c.*1858G>C (n.*1858G>C)
n.1780G>C
c.2365G>C (p.Gly789Arg)
c.2524G>C (p.Gly842Arg)
c.2127G>C
c.1706G>C
c.843G>C (p.Trp281Cys)
c.2221G>C (p.Gly741Arg)
Xg.53984941C>TCA413251549PHF8c.2113G>A (p.Gly705Arg)
c.2416G>A (p.Gly806Arg)
c.*871G>A (n.*871G>A)
c.*1858G>A (n.*1858G>A)
n.1780G>A
c.2365G>A (p.Gly789Arg)
c.2524G>A (p.Gly842Arg)
c.2127G>A
c.1706G>A
c.843G>A (p.Trp281Ter)
c.2221G>A (p.Gly741Arg)
Xg.53984942C>ACA413251556PHF8c.2112G>T (p.Leu704Phe)
c.2415G>T (p.Leu805Phe)
c.*870G>T (n.*870G>T)
c.*1857G>T (n.*1857G>T)
n.1779G>T
c.2364G>T (p.Leu788Phe)
c.2523G>T (p.Leu841Phe)
c.2126G>T
c.1705G>T
c.842G>T (p.Trp281Leu)
c.2220G>T (p.Leu740Phe)
Xg.53984942C>GCA413251552PHF8c.2112G>C (p.Leu704Phe)
c.2415G>C (p.Leu805Phe)
c.*870G>C (n.*870G>C)
c.*1857G>C (n.*1857G>C)
n.1779G>C
c.2364G>C (p.Leu788Phe)
c.2523G>C (p.Leu841Phe)
c.2126G>C
c.1705G>C
c.842G>C (p.Trp281Ser)
c.2220G>C (p.Leu740Phe)
Xg.53984942C>TCA413251554PHF8c.2112G>A (p.Leu704=)
c.2415G>A (p.Leu805=)
c.*870G>A (n.*870G>A)
c.*1857G>A (n.*1857G>A)
n.1779G>A
c.2364G>A (p.Leu788=)
c.2523G>A (p.Leu841=)
c.2126G>A
c.1705G>A
c.842G>A (p.Trp281Ter)
c.2220G>A (p.Leu740=)
Xg.53984943A>CCA413251558PHF8c.2111T>G (p.Leu704Trp)
c.2414T>G (p.Leu805Trp)
c.*869T>G (n.*869T>G)
c.*1856T>G (n.*1856T>G)
n.1778T>G
c.2363T>G (p.Leu788Trp)
c.2522T>G (p.Leu841Trp)
c.2125T>G
c.1704T>G
c.841T>G (p.Trp281Gly)
c.2219T>G (p.Leu740Trp)
Xg.53984943A>GCA413251560PHF8c.2111T>C (p.Leu704Ser)
c.2414T>C (p.Leu805Ser)
c.*869T>C (n.*869T>C)
c.*1856T>C (n.*1856T>C)
n.1778T>C
c.2363T>C (p.Leu788Ser)
c.2522T>C (p.Leu841Ser)
c.2125T>C
c.1704T>C
c.841T>C (p.Trp281Arg)
c.2219T>C (p.Leu740Ser)
Xg.53984943A>TCA413251563PHF8c.2111T>A (p.Leu704Ter)
c.2414T>A (p.Leu805Ter)
c.*869T>A (n.*869T>A)
c.*1856T>A (n.*1856T>A)
n.1778T>A
c.2363T>A (p.Leu788Ter)
c.2522T>A (p.Leu841Ter)
c.2125T>A
c.1704T>A
c.841T>A (p.Trp281Arg)
c.2219T>A (p.Leu740Ter)
Xg.53984944A>CCA413251566PHF8c.2110T>G (p.Leu704Val)
c.2413T>G (p.Leu805Val)
c.*868T>G (n.*868T>G)
c.*1855T>G (n.*1855T>G)
n.1777T>G
c.2362T>G (p.Leu788Val)
c.2521T>G (p.Leu841Val)
c.2124T>G
c.1703T>G
c.840T>G (p.Ala280=)
c.2218T>G (p.Leu740Val)
Xg.53984944A>GCA516688677PHF8c.2110T>C (p.Leu704=)
c.2413T>C (p.Leu805=)
c.*868T>C (n.*868T>C)
c.*1855T>C (n.*1855T>C)
n.1777T>C
c.2362T>C (p.Leu788=)
c.2521T>C (p.Leu841=)
c.2124T>C
c.1703T>C
c.840T>C (p.Ala280=)
c.2218T>C (p.Leu740=)
Xg.53984944A>TCA413251568PHF8c.2110T>A (p.Leu704Met)
c.2413T>A (p.Leu805Met)
c.*868T>A (n.*868T>A)
c.*1855T>A (n.*1855T>A)
n.1777T>A
c.2362T>A (p.Leu788Met)
c.2521T>A (p.Leu841Met)
c.2124T>A
c.1703T>A
c.840T>A (p.Ala280=)
c.2218T>A (p.Leu740Met)
Xg.53984945G>ACA413251572PHF8c.2109C>T (p.Ser703=)
c.2412C>T (p.Ser804=)
c.*867C>T (n.*867C>T)
c.*1854C>T (n.*1854C>T)
n.1776C>T
c.2361C>T (p.Ser787=)
c.2520C>T (p.Ser840=)
c.2123C>T
c.1702C>T
c.839C>T (p.Ala280Val)
c.2217C>T (p.Ser739=)
Xg.53984945G>CCA413251574PHF8c.2109C>G (p.Ser703Arg)
c.2412C>G (p.Ser804Arg)
c.*867C>G (n.*867C>G)
c.*1854C>G (n.*1854C>G)
n.1776C>G
c.2361C>G (p.Ser787Arg)
c.2520C>G (p.Ser840Arg)
c.2123C>G
c.1702C>G
c.839C>G (p.Ala280Gly)
c.2217C>G (p.Ser739Arg)
Xg.53984945G>TCA413251576PHF8c.2109C>A (p.Ser703Arg)
c.2412C>A (p.Ser804Arg)
c.*867C>A (n.*867C>A)
c.*1854C>A (n.*1854C>A)
n.1776C>A
c.2361C>A (p.Ser787Arg)
c.2520C>A (p.Ser840Arg)
c.2123C>A
c.1702C>A
c.839C>A (p.Ala280Asp)
c.2217C>A (p.Ser739Arg)
Xg.53984946C>ACA413251580PHF8c.2108G>T (p.Ser703Ile)
c.2411G>T (p.Ser804Ile)
c.*866G>T (n.*866G>T)
c.*1853G>T (n.*1853G>T)
n.1775G>T
c.2360G>T (p.Ser787Ile)
c.2519G>T (p.Ser840Ile)
c.2122G>T
c.1701G>T
c.838G>T (p.Ala280Ser)
c.2216G>T (p.Ser739Ile)
Xg.53984946C>GCA413251582PHF8c.2108G>C (p.Ser703Thr)
c.2411G>C (p.Ser804Thr)
c.*866G>C (n.*866G>C)
c.*1853G>C (n.*1853G>C)
n.1775G>C
c.2360G>C (p.Ser787Thr)
c.2519G>C (p.Ser840Thr)
c.2122G>C
c.1701G>C
c.838G>C (p.Ala280Pro)
c.2216G>C (p.Ser739Thr)
Xg.53984946C>TCA413251585PHF8c.2108G>A (p.Ser703Asn)
c.2411G>A (p.Ser804Asn)
c.*866G>A (n.*866G>A)
c.*1853G>A (n.*1853G>A)
n.1775G>A
c.2360G>A (p.Ser787Asn)
c.2519G>A (p.Ser840Asn)
c.2122G>A
c.1701G>A
c.838G>A (p.Ala280Thr)
c.2216G>A (p.Ser739Asn)
Xg.53984947T>ACA413251594PHF8c.2107A>T (p.Ser703Cys)
c.2410A>T (p.Ser804Cys)
c.*865A>T (n.*865A>T)
c.*1852A>T (n.*1852A>T)
n.1774A>T
c.2359A>T (p.Ser787Cys)
c.2518A>T (p.Ser840Cys)
c.2121A>T
c.1700A>T
c.837A>T (p.Thr279=)
c.2215A>T (p.Ser739Cys)
Xg.53984947T>CCA413251591PHF8c.2107A>G (p.Ser703Gly)
c.2410A>G (p.Ser804Gly)
c.*865A>G (n.*865A>G)
c.*1852A>G (n.*1852A>G)
n.1774A>G
c.2359A>G (p.Ser787Gly)
c.2518A>G (p.Ser840Gly)
c.2121A>G
c.1700A>G
c.837A>G (p.Thr279=)
c.2215A>G (p.Ser739Gly)
 gnomAD v4
Xg.53984947T>GCA413251588PHF8c.2107A>C (p.Ser703Arg)
c.2410A>C (p.Ser804Arg)
c.*865A>C (n.*865A>C)
c.*1852A>C (n.*1852A>C)
n.1774A>C
c.2359A>C (p.Ser787Arg)
c.2518A>C (p.Ser840Arg)
c.2121A>C
c.1700A>C
c.837A>C (p.Thr279=)
c.2215A>C (p.Ser739Arg)
Xg.53984948G>ACA413251596PHF8c.2106C>T (p.Asp702=)
c.2409C>T (p.Asp803=)
c.*864C>T (n.*864C>T)
c.*1851C>T (n.*1851C>T)
n.1773C>T
c.2358C>T (p.Asp786=)
c.2517C>T (p.Asp839=)
c.2120C>T
c.1699C>T
c.836C>T (p.Thr279Ile)
c.2214C>T (p.Asp738=)
Xg.53984948G>CCA413251599PHF8c.2106C>G (p.Asp702Glu)
c.2409C>G (p.Asp803Glu)
c.*864C>G (n.*864C>G)
c.*1851C>G (n.*1851C>G)
n.1773C>G
c.2358C>G (p.Asp786Glu)
c.2517C>G (p.Asp839Glu)
c.2120C>G
c.1699C>G
c.836C>G (p.Thr279Arg)
c.2214C>G (p.Asp738Glu)
Xg.53984948G>TCA413251601PHF8c.2106C>A (p.Asp702Glu)
c.2409C>A (p.Asp803Glu)
c.*864C>A (n.*864C>A)
c.*1851C>A (n.*1851C>A)
n.1773C>A
c.2358C>A (p.Asp786Glu)
c.2517C>A (p.Asp839Glu)
c.2120C>A
c.1699C>A
c.836C>A (p.Thr279Lys)
c.2214C>A (p.Asp738Glu)
Xg.53984949T>ACA413251603PHF8c.2105A>T (p.Asp702Val)
c.2408A>T (p.Asp803Val)
c.*863A>T (n.*863A>T)
c.*1850A>T (n.*1850A>T)
n.1772A>T
c.2357A>T (p.Asp786Val)
c.2516A>T (p.Asp839Val)
c.2119A>T
c.1698A>T
c.835A>T (p.Thr279Ser)
c.2213A>T (p.Asp738Val)
Xg.53984949T>CCA413251605PHF8c.2105A>G (p.Asp702Gly)
c.2408A>G (p.Asp803Gly)
c.*863A>G (n.*863A>G)
c.*1850A>G (n.*1850A>G)
n.1772A>G
c.2357A>G (p.Asp786Gly)
c.2516A>G (p.Asp839Gly)
c.2119A>G
c.1698A>G
c.835A>G (p.Thr279Ala)
c.2213A>G (p.Asp738Gly)
Xg.53984949T>GCA413251608PHF8c.2105A>C (p.Asp702Ala)
c.2408A>C (p.Asp803Ala)
c.*863A>C (n.*863A>C)
c.*1850A>C (n.*1850A>C)
n.1772A>C
c.2357A>C (p.Asp786Ala)
c.2516A>C (p.Asp839Ala)
c.2119A>C
c.1698A>C
c.835A>C (p.Thr279Pro)
c.2213A>C (p.Asp738Ala)
Xg.53984950C>ACA413251610PHF8c.2104G>T (p.Asp702Tyr)
c.2407G>T (p.Asp803Tyr)
c.*862G>T (n.*862G>T)
c.*1849G>T (n.*1849G>T)
n.1771G>T
c.2356G>T (p.Asp786Tyr)
c.2515G>T (p.Asp839Tyr)
c.2118G>T
c.1697G>T
c.834G>T (p.Arg278Ser)
c.2212G>T (p.Asp738Tyr)
Xg.53984950C>GCA413251612PHF8c.2104G>C (p.Asp702His)
c.2407G>C (p.Asp803His)
c.*862G>C (n.*862G>C)
c.*1849G>C (n.*1849G>C)
n.1771G>C
c.2356G>C (p.Asp786His)
c.2515G>C (p.Asp839His)
c.2118G>C
c.1697G>C
c.834G>C (p.Arg278Ser)
c.2212G>C (p.Asp738His)
Xg.53984950C>TCA413251615PHF8c.2104G>A (p.Asp702Asn)
c.2407G>A (p.Asp803Asn)
c.*862G>A (n.*862G>A)
c.*1849G>A (n.*1849G>A)
n.1771G>A
c.2356G>A (p.Asp786Asn)
c.2515G>A (p.Asp839Asn)
c.2118G>A
c.1697G>A
c.834G>A (p.Arg278=)
c.2212G>A (p.Asp738Asn)
 COSMIC COSMIC COSMIC COSMIC
Xg.53984951C>ACA413251619PHF8c.2103G>T (p.Gln701His)
c.2406G>T (p.Gln802His)
c.*861G>T (n.*861G>T)
c.*1848G>T (n.*1848G>T)
n.1770G>T
c.2355G>T (p.Gln785His)
c.2514G>T (p.Gln838His)
c.2117G>T
c.1696G>T
c.833G>T (p.Arg278Met)
c.2211G>T (p.Gln737His)
Xg.53984951C=CA2430030649PHF8c.2103G= (p.Gln701=)
c.2406G= (p.Gln802=)
c.*861G= (n.*861G=)
c.*1848G= (n.*1848G=)
n.1770G=
c.2355G= (p.Gln785=)
c.2514G= (p.Gln838=)
c.2117G=
c.1696G=
c.833G= (p.Arg278=)
c.2211G= (p.Gln737=)
Xg.53984951C>GCA413251621PHF8c.2103G>C (p.Gln701His)
c.2406G>C (p.Gln802His)
c.*861G>C (n.*861G>C)
c.*1848G>C (n.*1848G>C)
n.1770G>C
c.2355G>C (p.Gln785His)
c.2514G>C (p.Gln838His)
c.2117G>C
c.1696G>C
c.833G>C (p.Arg278Thr)
c.2211G>C (p.Gln737His)
Xg.53984951C>TCA413251622PHF8c.2103G>A (p.Gln701=)
c.2406G>A (p.Gln802=)
c.*861G>A (n.*861G>A)
c.*1848G>A (n.*1848G>A)
n.1770G>A
c.2355G>A (p.Gln785=)
c.2514G>A (p.Gln838=)
c.2117G>A
c.1696G>A
c.833G>A (p.Arg278Lys)
c.2211G>A (p.Gln737=)
 dbSNP
Xg.53984952T>ACA413251631PHF8c.2102A>T (p.Gln701Leu)
c.2405A>T (p.Gln802Leu)
c.*860A>T (n.*860A>T)
c.*1847A>T (n.*1847A>T)
n.1769A>T
c.2354A>T (p.Gln785Leu)
c.2513A>T (p.Gln838Leu)
c.2116A>T
c.1695A>T
c.832A>T (p.Arg278Trp)
c.2210A>T (p.Gln737Leu)
Xg.53984952T>CCA413251629PHF8c.2102A>G (p.Gln701Arg)
c.2405A>G (p.Gln802Arg)
c.*860A>G (n.*860A>G)
c.*1847A>G (n.*1847A>G)
n.1769A>G
c.2354A>G (p.Gln785Arg)
c.2513A>G (p.Gln838Arg)
c.2116A>G
c.1695A>G
c.832A>G (p.Arg278Gly)
c.2210A>G (p.Gln737Arg)
Xg.53984952T>GCA413251626PHF8c.2102A>C (p.Gln701Pro)
c.2405A>C (p.Gln802Pro)
c.*860A>C (n.*860A>C)
c.*1847A>C (n.*1847A>C)
n.1769A>C
c.2354A>C (p.Gln785Pro)
c.2513A>C (p.Gln838Pro)
c.2116A>C
c.1695A>C
c.832A>C (p.Arg278=)
c.2210A>C (p.Gln737Pro)
 ClinVar dbSNP
Xg.53984952T=CA2430030650PHF8c.2102A= (p.Gln701=)
c.2405A= (p.Gln802=)
c.*860A= (n.*860A=)
c.*1847A= (n.*1847A=)
n.1769A=
c.2354A= (p.Gln785=)
c.2513A= (p.Gln838=)
c.2116A=
c.1695A=
c.832A= (p.Arg278=)
c.2210A= (p.Gln737=)
Xg.53984953G>ACA413251633PHF8c.2101C>T (p.Gln701Ter)
c.2404C>T (p.Gln802Ter)
c.*859C>T (n.*859C>T)
c.*1846C>T (n.*1846C>T)
n.1768C>T
c.2353C>T (p.Gln785Ter)
c.2512C>T (p.Gln838Ter)
c.2115C>T
c.1694C>T
c.831C>T (p.Asn277=)
c.2209C>T (p.Gln737Ter)
Xg.53984953G>CCA413251634PHF8c.2101C>G (p.Gln701Glu)
c.2404C>G (p.Gln802Glu)
c.*859C>G (n.*859C>G)
c.*1846C>G (n.*1846C>G)
n.1768C>G
c.2353C>G (p.Gln785Glu)
c.2512C>G (p.Gln838Glu)
c.2115C>G
c.1694C>G
c.831C>G (p.Asn277Lys)
c.2209C>G (p.Gln737Glu)
Xg.53984953G>TCA413251635PHF8c.2101C>A (p.Gln701Lys)
c.2404C>A (p.Gln802Lys)
c.*859C>A (n.*859C>A)
c.*1846C>A (n.*1846C>A)
n.1768C>A
c.2353C>A (p.Gln785Lys)
c.2512C>A (p.Gln838Lys)
c.2115C>A
c.1694C>A
c.831C>A (p.Asn277Lys)
c.2209C>A (p.Gln737Lys)
Xg.53984954T>ACA413251638PHF8c.2100A>T (p.Glu700Asp)
c.2403A>T (p.Glu801Asp)
c.*858A>T (n.*858A>T)
c.*1845A>T (n.*1845A>T)
n.1767A>T
c.2352A>T (p.Glu784Asp)
c.2511A>T (p.Glu837Asp)
c.2114A>T
c.1693A>T
c.830A>T (p.Asn277Ile)
c.2208A>T (p.Glu736Asp)
Xg.53984954T>CCA413251640PHF8c.2100A>G (p.Glu700=)
c.2403A>G (p.Glu801=)
c.*858A>G (n.*858A>G)
c.*1845A>G (n.*1845A>G)
n.1767A>G
c.2352A>G (p.Glu784=)
c.2511A>G (p.Glu837=)
c.2114A>G
c.1693A>G
c.830A>G (p.Asn277Ser)
c.2208A>G (p.Glu736=)
Xg.53984954T>GCA413251641PHF8c.2100A>C (p.Glu700Asp)
c.2403A>C (p.Glu801Asp)
c.*858A>C (n.*858A>C)
c.*1845A>C (n.*1845A>C)
n.1767A>C
c.2352A>C (p.Glu784Asp)
c.2511A>C (p.Glu837Asp)
c.2114A>C
c.1693A>C
c.830A>C (p.Asn277Thr)
c.2208A>C (p.Glu736Asp)
Xg.53984955T>ACA413251645PHF8c.2099A>T (p.Glu700Val)
c.2402A>T (p.Glu801Val)
c.*857A>T (n.*857A>T)
c.*1844A>T (n.*1844A>T)
n.1766A>T
c.2351A>T (p.Glu784Val)
c.2510A>T (p.Glu837Val)
c.2113A>T
c.1692A>T
c.829A>T (p.Asn277Tyr)
c.2207A>T (p.Glu736Val)
Xg.53984955T>CCA413251648PHF8c.2099A>G (p.Glu700Gly)
c.2402A>G (p.Glu801Gly)
c.*857A>G (n.*857A>G)
c.*1844A>G (n.*1844A>G)
n.1766A>G
c.2351A>G (p.Glu784Gly)
c.2510A>G (p.Glu837Gly)
c.2113A>G
c.1692A>G
c.829A>G (p.Asn277Asp)
c.2207A>G (p.Glu736Gly)
Xg.53984955T>GCA413251650PHF8c.2099A>C (p.Glu700Ala)
c.2402A>C (p.Glu801Ala)
c.*857A>C (n.*857A>C)
c.*1844A>C (n.*1844A>C)
n.1766A>C
c.2351A>C (p.Glu784Ala)
c.2510A>C (p.Glu837Ala)
c.2113A>C
c.1692A>C
c.829A>C (p.Asn277His)
c.2207A>C (p.Glu736Ala)
Xg.53984956C>ACA413251653PHF8c.2098G>T (p.Glu700Ter)
c.2401G>T (p.Glu801Ter)
c.*856G>T (n.*856G>T)
c.*1843G>T (n.*1843G>T)
n.1765G>T
c.2350G>T (p.Glu784Ter)
c.2509G>T (p.Glu837Ter)
c.2112G>T
c.1691G>T
c.828G>T (p.Met276Ile)
c.2206G>T (p.Glu736Ter)
Xg.53984956C>GCA413251655PHF8c.2098G>C (p.Glu700Gln)
c.2401G>C (p.Glu801Gln)
c.*856G>C (n.*856G>C)
c.*1843G>C (n.*1843G>C)
n.1765G>C
c.2350G>C (p.Glu784Gln)
c.2509G>C (p.Glu837Gln)
c.2112G>C
c.1691G>C
c.828G>C (p.Met276Ile)
c.2206G>C (p.Glu736Gln)
Xg.53984956C>TCA413251657PHF8c.2098G>A (p.Glu700Lys)
c.2401G>A (p.Glu801Lys)
c.*856G>A (n.*856G>A)
c.*1843G>A (n.*1843G>A)
n.1765G>A
c.2350G>A (p.Glu784Lys)
c.2509G>A (p.Glu837Lys)
c.2112G>A
c.1691G>A
c.828G>A (p.Met276Ile)
c.2206G>A (p.Glu736Lys)
Xg.53984957A=CA2430030651PHF8c.2097T= (p.Asp699=)
c.2400T= (p.Asp800=)
c.*855T= (n.*855T=)
c.*1842T= (n.*1842T=)
n.1764T=
c.2349T= (p.Asp783=)
c.2508T= (p.Asp836=)
c.2111T=
c.1690T=
c.827T= (p.Met276=)
c.2205T= (p.Asp735=)
Xg.53984957A>CCA413251664PHF8c.2097T>G (p.Asp699Glu)
c.2400T>G (p.Asp800Glu)
c.*855T>G (n.*855T>G)
c.*1842T>G (n.*1842T>G)
n.1764T>G
c.2349T>G (p.Asp783Glu)
c.2508T>G (p.Asp836Glu)
c.2111T>G
c.1690T>G
c.827T>G (p.Met276Arg)
c.2205T>G (p.Asp735Glu)
Xg.53984957A>GCA413251662PHF8c.2097T>C (p.Asp699=)
c.2400T>C (p.Asp800=)
c.*855T>C (n.*855T>C)
c.*1842T>C (n.*1842T>C)
n.1764T>C
c.2349T>C (p.Asp783=)
c.2508T>C (p.Asp836=)
c.2111T>C
c.1690T>C
c.827T>C (p.Met276Thr)
c.2205T>C (p.Asp735=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53984957A>TCA413251660PHF8c.2097T>A (p.Asp699Glu)
c.2400T>A (p.Asp800Glu)
c.*855T>A (n.*855T>A)
c.*1842T>A (n.*1842T>A)
n.1764T>A
c.2349T>A (p.Asp783Glu)
c.2508T>A (p.Asp836Glu)
c.2111T>A
c.1690T>A
c.827T>A (p.Met276Lys)
c.2205T>A (p.Asp735Glu)
Xg.53984958T>ACA413251668PHF8c.2096A>T (p.Asp699Val)
c.2399A>T (p.Asp800Val)
c.*854A>T (n.*854A>T)
c.*1841A>T (n.*1841A>T)
n.1763A>T
c.2348A>T (p.Asp783Val)
c.2507A>T (p.Asp836Val)
c.2110A>T
c.1689A>T
c.826A>T (p.Met276Leu)
c.2204A>T (p.Asp735Val)
Xg.53984958T>CCA413251673PHF8c.2096A>G (p.Asp699Gly)
c.2399A>G (p.Asp800Gly)
c.*854A>G (n.*854A>G)
c.*1841A>G (n.*1841A>G)
n.1763A>G
c.2348A>G (p.Asp783Gly)
c.2507A>G (p.Asp836Gly)
c.2110A>G
c.1689A>G
c.826A>G (p.Met276Val)
c.2204A>G (p.Asp735Gly)
 COSMIC COSMIC COSMIC COSMIC
Xg.53984958T>GCA413251671PHF8c.2096A>C (p.Asp699Ala)
c.2399A>C (p.Asp800Ala)
c.*854A>C (n.*854A>C)
c.*1841A>C (n.*1841A>C)
n.1763A>C
c.2348A>C (p.Asp783Ala)
c.2507A>C (p.Asp836Ala)
c.2110A>C
c.1689A>C
c.826A>C (p.Met276Leu)
c.2204A>C (p.Asp735Ala)
 gnomAD v4
Xg.53984959C>ACA413251676PHF8c.2095G>T (p.Asp699Tyr)
c.2398G>T (p.Asp800Tyr)
c.*853G>T (n.*853G>T)
c.*1840G>T (n.*1840G>T)
n.1762G>T
c.2347G>T (p.Asp783Tyr)
c.2506G>T (p.Asp836Tyr)
c.2109G>T
c.1688G>T
c.825G>T (p.Trp275Cys)
c.2203G>T (p.Asp735Tyr)
Xg.53984959C>GCA413251678PHF8c.2095G>C (p.Asp699His)
c.2398G>C (p.Asp800His)
c.*853G>C (n.*853G>C)
c.*1840G>C (n.*1840G>C)
n.1762G>C
c.2347G>C (p.Asp783His)
c.2506G>C (p.Asp836His)
c.2109G>C
c.1688G>C
c.825G>C (p.Trp275Cys)
c.2203G>C (p.Asp735His)
Xg.53984959C>TCA413251680PHF8c.2095G>A (p.Asp699Asn)
c.2398G>A (p.Asp800Asn)
c.*853G>A (n.*853G>A)
c.*1840G>A (n.*1840G>A)
n.1762G>A
c.2347G>A (p.Asp783Asn)
c.2506G>A (p.Asp836Asn)
c.2109G>A
c.1688G>A
c.825G>A (p.Trp275Ter)
c.2203G>A (p.Asp735Asn)
Xg.53984960C>ACA413251684PHF8c.2094G>T (p.Leu698=)
c.2397G>T (p.Leu799=)
c.*852G>T (n.*852G>T)
c.*1839G>T (n.*1839G>T)
n.1761G>T
c.2346G>T (p.Leu782=)
c.2505G>T (p.Leu835=)
c.2108G>T
c.1687G>T
c.824G>T (p.Trp275Leu)
c.2202G>T (p.Leu734=)
Xg.53984960C>GCA413251686PHF8c.2094G>C (p.Leu698=)
c.2397G>C (p.Leu799=)
c.*852G>C (n.*852G>C)
c.*1839G>C (n.*1839G>C)
n.1761G>C
c.2346G>C (p.Leu782=)
c.2505G>C (p.Leu835=)
c.2108G>C
c.1687G>C
c.824G>C (p.Trp275Ser)
c.2202G>C (p.Leu734=)
Xg.53984960C>TCA413251688PHF8c.2094G>A (p.Leu698=)
c.2397G>A (p.Leu799=)
c.*852G>A (n.*852G>A)
c.*1839G>A (n.*1839G>A)
n.1761G>A
c.2346G>A (p.Leu782=)
c.2505G>A (p.Leu835=)
c.2108G>A
c.1687G>A
c.824G>A (p.Trp275Ter)
c.2202G>A (p.Leu734=)
 gnomAD v4
Xg.53984961A>CCA413251691PHF8c.2093T>G (p.Leu698Arg)
c.2396T>G (p.Leu799Arg)
c.*851T>G (n.*851T>G)
c.*1838T>G (n.*1838T>G)
n.1760T>G
c.2345T>G (p.Leu782Arg)
c.2504T>G (p.Leu835Arg)
c.2107T>G
c.1686T>G
c.823T>G (p.Trp275Gly)
c.2201T>G (p.Leu734Arg)
Xg.53984961A>GCA413251693PHF8c.2093T>C (p.Leu698Pro)
c.2396T>C (p.Leu799Pro)
c.*851T>C (n.*851T>C)
c.*1838T>C (n.*1838T>C)
n.1760T>C
c.2345T>C (p.Leu782Pro)
c.2504T>C (p.Leu835Pro)
c.2107T>C
c.1686T>C
c.823T>C (p.Trp275Arg)
c.2201T>C (p.Leu734Pro)
Xg.53984961A>TCA413251695PHF8c.2093T>A (p.Leu698Gln)
c.2396T>A (p.Leu799Gln)
c.*851T>A (n.*851T>A)
c.*1838T>A (n.*1838T>A)
n.1760T>A
c.2345T>A (p.Leu782Gln)
c.2504T>A (p.Leu835Gln)
c.2107T>A
c.1686T>A
c.823T>A (p.Trp275Arg)
c.2201T>A (p.Leu734Gln)
Xg.53984962G>ACA516688693PHF8c.2092C>T (p.Leu698=)
c.2395C>T (p.Leu799=)
c.*850C>T (n.*850C>T)
c.*1837C>T (n.*1837C>T)
n.1759C>T
c.2344C>T (p.Leu782=)
c.2503C>T (p.Leu835=)
c.2106C>T
c.1685C>T
c.822C>T (p.Val274=)
c.2200C>T (p.Leu734=)
Xg.53984962G>CCA413251698PHF8c.2092C>G (p.Leu698Val)
c.2395C>G (p.Leu799Val)
c.*850C>G (n.*850C>G)
c.*1837C>G (n.*1837C>G)
n.1759C>G
c.2344C>G (p.Leu782Val)
c.2503C>G (p.Leu835Val)
c.2106C>G
c.1685C>G
c.822C>G (p.Val274=)
c.2200C>G (p.Leu734Val)
 gnomAD v4
Xg.53984962G=CA2430030652PHF8c.2092C= (p.Leu698=)
c.2395C= (p.Leu799=)
c.*850C= (n.*850C=)
c.*1837C= (n.*1837C=)
n.1759C=
c.2344C= (p.Leu782=)
c.2503C= (p.Leu835=)
c.2106C=
c.1685C=
c.822C= (p.Val274=)
c.2200C= (p.Leu734=)
Xg.53984962G>TCA413251700PHF8c.2092C>A (p.Leu698Met)
c.2395C>A (p.Leu799Met)
c.*850C>A (n.*850C>A)
c.*1837C>A (n.*1837C>A)
n.1759C>A
c.2344C>A (p.Leu782Met)
c.2503C>A (p.Leu835Met)
c.2106C>A
c.1685C>A
c.822C>A (p.Val274=)
c.2200C>A (p.Leu734Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984963A=CA2430030653PHF8c.2091T= (p.Ser697=)
c.2394T= (p.Ser798=)
c.*849T= (n.*849T=)
c.*1836T= (n.*1836T=)
n.1758T=
c.2343T= (p.Ser781=)
c.2502T= (p.Ser834=)
c.2105T=
c.1684T=
c.821T= (p.Val274=)
c.2199T= (p.Ser733=)
Xg.53984963A>CCA413251706PHF8c.2091T>G (p.Ser697Arg)
c.2394T>G (p.Ser798Arg)
c.*849T>G (n.*849T>G)
c.*1836T>G (n.*1836T>G)
n.1758T>G
c.2343T>G (p.Ser781Arg)
c.2502T>G (p.Ser834Arg)
c.2105T>G
c.1684T>G
c.821T>G (p.Val274Gly)
c.2199T>G (p.Ser733Arg)
Xg.53984963A>GCA10423295PHF8c.2091T>C (p.Ser697=)
c.2394T>C (p.Ser798=)
c.*849T>C (n.*849T>C)
c.*1836T>C (n.*1836T>C)
n.1758T>C
c.2343T>C (p.Ser781=)
c.2502T>C (p.Ser834=)
c.2105T>C
c.1684T>C
c.821T>C (p.Val274Ala)
c.2199T>C (p.Ser733=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53984963A>TCA413251703PHF8c.2091T>A (p.Ser697Arg)
c.2394T>A (p.Ser798Arg)
c.*849T>A (n.*849T>A)
c.*1836T>A (n.*1836T>A)
n.1758T>A
c.2343T>A (p.Ser781Arg)
c.2502T>A (p.Ser834Arg)
c.2105T>A
c.1684T>A
c.821T>A (p.Val274Asp)
c.2199T>A (p.Ser733Arg)
Xg.53984964C>ACA10423296PHF8c.2090G>T (p.Ser697Ile)
c.2393G>T (p.Ser798Ile)
c.*848G>T (n.*848G>T)
c.*1835G>T (n.*1835G>T)
n.1757G>T
c.2342G>T (p.Ser781Ile)
c.2501G>T (p.Ser834Ile)
c.2104G>T
c.1683G>T
c.820G>T (p.Val274Phe)
c.2198G>T (p.Ser733Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53984964C=CA2430030654PHF8c.2090G= (p.Ser697=)
c.2393G= (p.Ser798=)
c.*848G= (n.*848G=)
c.*1835G= (n.*1835G=)
n.1757G=
c.2342G= (p.Ser781=)
c.2501G= (p.Ser834=)
c.2104G=
c.1683G=
c.820G= (p.Val274=)
c.2198G= (p.Ser733=)
Xg.53984964C>GCA413251711PHF8c.2090G>C (p.Ser697Thr)
c.2393G>C (p.Ser798Thr)
c.*848G>C (n.*848G>C)
c.*1835G>C (n.*1835G>C)
n.1757G>C
c.2342G>C (p.Ser781Thr)
c.2501G>C (p.Ser834Thr)
c.2104G>C
c.1683G>C
c.820G>C (p.Val274Leu)
c.2198G>C (p.Ser733Thr)
Xg.53984964C>TCA413251713PHF8c.2090G>A (p.Ser697Asn)
c.2393G>A (p.Ser798Asn)
c.*848G>A (n.*848G>A)
c.*1835G>A (n.*1835G>A)
n.1757G>A
c.2342G>A (p.Ser781Asn)
c.2501G>A (p.Ser834Asn)
c.2104G>A
c.1683G>A
c.820G>A (p.Val274Ile)
c.2198G>A (p.Ser733Asn)
Xg.53984965T>ACA413251717PHF8c.2089A>T (p.Ser697Cys)
c.2392A>T (p.Ser798Cys)
c.*847A>T (n.*847A>T)
c.*1834A>T (n.*1834A>T)
n.1756A>T
c.2341A>T (p.Ser781Cys)
c.2500A>T (p.Ser834Cys)
c.2103A>T
c.1682A>T
c.819A>T (p.Pro273=)
c.2197A>T (p.Ser733Cys)
Xg.53984965T>CCA413251719PHF8c.2089A>G (p.Ser697Gly)
c.2392A>G (p.Ser798Gly)
c.*847A>G (n.*847A>G)
c.*1834A>G (n.*1834A>G)
n.1756A>G
c.2341A>G (p.Ser781Gly)
c.2500A>G (p.Ser834Gly)
c.2103A>G
c.1682A>G
c.819A>G (p.Pro273=)
c.2197A>G (p.Ser733Gly)
Xg.53984965T>GCA413251721PHF8c.2089A>C (p.Ser697Arg)
c.2392A>C (p.Ser798Arg)
c.*847A>C (n.*847A>C)
c.*1834A>C (n.*1834A>C)
n.1756A>C
c.2341A>C (p.Ser781Arg)
c.2500A>C (p.Ser834Arg)
c.2103A>C
c.1682A>C
c.819A>C (p.Pro273=)
c.2197A>C (p.Ser733Arg)
Xg.53984966G>ACA413251723PHF8c.2088C>T (p.Ala696=)
c.2391C>T (p.Ala797=)
c.*846C>T (n.*846C>T)
c.*1833C>T (n.*1833C>T)
n.1755C>T
c.2340C>T (p.Ala780=)
c.2499C>T (p.Ala833=)
c.2102C>T
c.1681C>T
c.818C>T (p.Pro273Leu)
c.2196C>T (p.Ala732=)
Xg.53984966G>CCA413251726PHF8c.2088C>G (p.Ala696=)
c.2391C>G (p.Ala797=)
c.*846C>G (n.*846C>G)
c.*1833C>G (n.*1833C>G)
n.1755C>G
c.2340C>G (p.Ala780=)
c.2499C>G (p.Ala833=)
c.2102C>G
c.1681C>G
c.818C>G (p.Pro273Arg)
c.2196C>G (p.Ala732=)
Xg.53984966G>TCA413251728PHF8c.2088C>A (p.Ala696=)
c.2391C>A (p.Ala797=)
c.*846C>A (n.*846C>A)
c.*1833C>A (n.*1833C>A)
n.1755C>A
c.2340C>A (p.Ala780=)
c.2499C>A (p.Ala833=)
c.2102C>A
c.1681C>A
c.818C>A (p.Pro273Gln)
c.2196C>A (p.Ala732=)
Xg.53984967G>ACA413251731PHF8c.2087C>T (p.Ala696Val)
c.2390C>T (p.Ala797Val)
c.*845C>T (n.*845C>T)
c.*1832C>T (n.*1832C>T)
n.1754C>T
c.2339C>T (p.Ala780Val)
c.2498C>T (p.Ala833Val)
c.2101C>T
c.1680C>T
c.817C>T (p.Pro273Ser)
c.2195C>T (p.Ala732Val)
 gnomAD v4
Xg.53984967G>CCA413251733PHF8c.2087C>G (p.Ala696Gly)
c.2390C>G (p.Ala797Gly)
c.*845C>G (n.*845C>G)
c.*1832C>G (n.*1832C>G)
n.1754C>G
c.2339C>G (p.Ala780Gly)
c.2498C>G (p.Ala833Gly)
c.2101C>G
c.1680C>G
c.817C>G (p.Pro273Ala)
c.2195C>G (p.Ala732Gly)
Xg.53984967G>TCA413251735PHF8c.2087C>A (p.Ala696Asp)
c.2390C>A (p.Ala797Asp)
c.*845C>A (n.*845C>A)
c.*1832C>A (n.*1832C>A)
n.1754C>A
c.2339C>A (p.Ala780Asp)
c.2498C>A (p.Ala833Asp)
c.2101C>A
c.1680C>A
c.817C>A (p.Pro273Thr)
c.2195C>A (p.Ala732Asp)
Xg.53984968C>ACA413251742PHF8c.2086G>T (p.Ala696Ser)
c.2389G>T (p.Ala797Ser)
c.*844G>T (n.*844G>T)
c.*1831G>T (n.*1831G>T)
n.1753G>T
c.2338G>T (p.Ala780Ser)
c.2497G>T (p.Ala833Ser)
c.2100G>T
c.1679G>T
c.816G>T (p.Thr272=)
c.2194G>T (p.Ala732Ser)
Xg.53984968C=CA2430030655PHF8c.2086G= (p.Ala696=)
c.2389G= (p.Ala797=)
c.*844G= (n.*844G=)
c.*1831G= (n.*1831G=)
n.1753G=
c.2338G= (p.Ala780=)
c.2497G= (p.Ala833=)
c.2100G=
c.1679G=
c.816G= (p.Thr272=)
c.2194G= (p.Ala732=)
Xg.53984968C>GCA413251740PHF8c.2086G>C (p.Ala696Pro)
c.2389G>C (p.Ala797Pro)
c.*844G>C (n.*844G>C)
c.*1831G>C (n.*1831G>C)
n.1753G>C
c.2338G>C (p.Ala780Pro)
c.2497G>C (p.Ala833Pro)
c.2100G>C
c.1679G>C
c.816G>C (p.Thr272=)
c.2194G>C (p.Ala732Pro)
Xg.53984968C>TCA10423297PHF8c.2086G>A (p.Ala696Thr)
c.2389G>A (p.Ala797Thr)
c.*844G>A (n.*844G>A)
c.*1831G>A (n.*1831G>A)
n.1753G>A
c.2338G>A (p.Ala780Thr)
c.2497G>A (p.Ala833Thr)
c.2100G>A
c.1679G>A
c.816G>A (p.Thr272=)
c.2194G>A (p.Ala732Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984969G>ACA10423298PHF8c.2085C>T (p.Asn695=)
c.2388C>T (p.Asn796=)
c.*843C>T (n.*843C>T)
c.*1830C>T (n.*1830C>T)
n.1752C>T
c.2337C>T (p.Asn779=)
c.2496C>T (p.Asn832=)
c.2099C>T
c.1678C>T
c.815C>T (p.Thr272Met)
c.2193C>T (p.Asn731=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53984969G>CCA413251746PHF8c.2085C>G (p.Asn695Lys)
c.2388C>G (p.Asn796Lys)
c.*843C>G (n.*843C>G)
c.*1830C>G (n.*1830C>G)
n.1752C>G
c.2337C>G (p.Asn779Lys)
c.2496C>G (p.Asn832Lys)
c.2099C>G
c.1678C>G
c.815C>G (p.Thr272Arg)
c.2193C>G (p.Asn731Lys)
Xg.53984969G=CA2430030656PHF8c.2085C= (p.Asn695=)
c.2388C= (p.Asn796=)
c.*843C= (n.*843C=)
c.*1830C= (n.*1830C=)
n.1752C=
c.2337C= (p.Asn779=)
c.2496C= (p.Asn832=)
c.2099C=
c.1678C=
c.815C= (p.Thr272=)
c.2193C= (p.Asn731=)
Xg.53984969G>TCA10423299PHF8c.2085C>A (p.Asn695Lys)
c.2388C>A (p.Asn796Lys)
c.*843C>A (n.*843C>A)
c.*1830C>A (n.*1830C>A)
n.1752C>A
c.2337C>A (p.Asn779Lys)
c.2496C>A (p.Asn832Lys)
c.2099C>A
c.1678C>A
c.815C>A (p.Thr272Lys)
c.2193C>A (p.Asn731Lys)
 dbSNP ExAC gnomAD v2
Xg.53984970T>ACA413251751PHF8c.2084A>T (p.Asn695Ile)
c.2387A>T (p.Asn796Ile)
c.*842A>T (n.*842A>T)
c.*1829A>T (n.*1829A>T)
n.1751A>T
c.2336A>T (p.Asn779Ile)
c.2495A>T (p.Asn832Ile)
c.2098A>T
c.1677A>T
c.814A>T (p.Thr272Ser)
c.2192A>T (p.Asn731Ile)
Xg.53984970T>CCA413251753PHF8c.2084A>G (p.Asn695Ser)
c.2387A>G (p.Asn796Ser)
c.*842A>G (n.*842A>G)
c.*1829A>G (n.*1829A>G)
n.1751A>G
c.2336A>G (p.Asn779Ser)
c.2495A>G (p.Asn832Ser)
c.2098A>G
c.1677A>G
c.814A>G (p.Thr272Ala)
c.2192A>G (p.Asn731Ser)
Xg.53984970T>GCA413251756PHF8c.2084A>C (p.Asn695Thr)
c.2387A>C (p.Asn796Thr)
c.*842A>C (n.*842A>C)
c.*1829A>C (n.*1829A>C)
n.1751A>C
c.2336A>C (p.Asn779Thr)
c.2495A>C (p.Asn832Thr)
c.2098A>C
c.1677A>C
c.814A>C (p.Thr272Pro)
c.2192A>C (p.Asn731Thr)
Xg.53984971T>ACA413251759PHF8c.2083A>T (p.Asn695Tyr)
c.2386A>T (p.Asn796Tyr)
c.*841A>T (n.*841A>T)
c.*1828A>T (n.*1828A>T)
n.1750A>T
c.2335A>T (p.Asn779Tyr)
c.2494A>T (p.Asn832Tyr)
c.2097A>T
c.1676A>T
c.813A>T (p.Arg271Ser)
c.2191A>T (p.Asn731Tyr)
Xg.53984971T>CCA413251761PHF8c.2083A>G (p.Asn695Asp)
c.2386A>G (p.Asn796Asp)
c.*841A>G (n.*841A>G)
c.*1828A>G (n.*1828A>G)
n.1750A>G
c.2335A>G (p.Asn779Asp)
c.2494A>G (p.Asn832Asp)
c.2097A>G
c.1676A>G
c.813A>G (p.Arg271=)
c.2191A>G (p.Asn731Asp)
Xg.53984971T>GCA413251763PHF8c.2083A>C (p.Asn695His)
c.2386A>C (p.Asn796His)
c.*841A>C (n.*841A>C)
c.*1828A>C (n.*1828A>C)
n.1750A>C
c.2335A>C (p.Asn779His)
c.2494A>C (p.Asn832His)
c.2097A>C
c.1676A>C
c.813A>C (p.Arg271Ser)
c.2191A>C (p.Asn731His)
Xg.53984971_53984974delinsTCTCCA2430030657PHF8c.2080_2083delinsGAGA (p.Glu694=)
c.2383_2386delinsGAGA (p.Glu795=)
c.*838_*841delinsGAGA (n.*838_*841delinsGAGA)
c.*1825_*1828delinsGAGA (n.*1825_*1828delinsGAGA)
n.1747_1750delinsGAGA
c.2332_2335delinsGAGA (p.Glu778=)
c.2491_2494delinsGAGA (p.Glu831=)
c.2094_2097delinsGAGA
c.1673_1676delinsGAGA
c.810_813delinsGAGA (p.Arg270=)
c.2188_2191delinsGAGA (p.Glu730=)
Xg.53984972C>ACA413251769PHF8c.2082G>T (p.Glu694Asp)
c.2385G>T (p.Glu795Asp)
c.*840G>T (n.*840G>T)
c.*1827G>T (n.*1827G>T)
n.1749G>T
c.2334G>T (p.Glu778Asp)
c.2493G>T (p.Glu831Asp)
c.2096G>T
c.1675G>T
c.812G>T (p.Arg271Ile)
c.2190G>T (p.Glu730Asp)
Xg.53984972C>GCA413251770PHF8c.2082G>C (p.Glu694Asp)
c.2385G>C (p.Glu795Asp)
c.*840G>C (n.*840G>C)
c.*1827G>C (n.*1827G>C)
n.1749G>C
c.2334G>C (p.Glu778Asp)
c.2493G>C (p.Glu831Asp)
c.2096G>C
c.1675G>C
c.812G>C (p.Arg271Thr)
c.2190G>C (p.Glu730Asp)
Xg.53984972C>TCA413251772PHF8c.2082G>A (p.Glu694=)
c.2385G>A (p.Glu795=)
c.*840G>A (n.*840G>A)
c.*1827G>A (n.*1827G>A)
n.1749G>A
c.2334G>A (p.Glu778=)
c.2493G>A (p.Glu831=)
c.2096G>A
c.1675G>A
c.812G>A (p.Arg271Lys)
c.2190G>A (p.Glu730=)
Xg.53984984_53984986dupCA10423301PHF8c.2080_2082dup (p.Glu694_Asn695insGlu)
c.2383_2385dup (p.Glu795_Asn796insGlu)
c.*838_*840dup (n.*838_*840dup)
c.*1825_*1827dup (n.*1825_*1827dup)
n.1747_1749dup
c.2332_2334dup (p.Glu778_Asn779insGlu)
c.2491_2493dup (p.Glu831_Asn832insGlu)
c.2094_2096dup
c.1673_1675dup
c.810_812dup (p.Arg271_Thr272insArg)
c.2188_2190dup (p.Glu730_Asn731insGlu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984984_53984986delCA10423300PHF8c.2080_2082del (p.Glu694del)
c.2383_2385del (p.Glu795del)
c.*838_*840del (n.*838_*840del)
c.*1825_*1827del (n.*1825_*1827del)
n.1747_1749del
c.2332_2334del (p.Glu778del)
c.2491_2493del (p.Glu831del)
c.2094_2096del
c.1673_1675del
c.810_812del (p.Arg271del)
c.2188_2190del (p.Glu730del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53984981_53984986delCA2521958049PHF8c.2077_2082del (p.Glu693_Glu694del)
c.2380_2385del (p.Glu794_Glu795del)
c.*835_*840del (n.*835_*840del)
c.*1822_*1827del (n.*1822_*1827del)
n.1744_1749del
c.2329_2334del (p.Glu777_Glu778del)
c.2488_2493del (p.Glu830_Glu831del)
c.2091_2096del
c.1670_1675del
c.807_812del (p.Arg270_Arg271del)
c.2185_2190del (p.Glu729_Glu730del)
Xg.53984973T>ACA413251778PHF8c.2081A>T (p.Glu694Val)
c.2384A>T (p.Glu795Val)
c.*839A>T (n.*839A>T)
c.*1826A>T (n.*1826A>T)
n.1748A>T
c.2333A>T (p.Glu778Val)
c.2492A>T (p.Glu831Val)
c.2095A>T
c.1674A>T
c.811A>T (p.Arg271Ter)
c.2189A>T (p.Glu730Val)
Xg.53984973T>CCA413251774PHF8c.2081A>G (p.Glu694Gly)
c.2384A>G (p.Glu795Gly)
c.*839A>G (n.*839A>G)
c.*1826A>G (n.*1826A>G)
n.1748A>G
c.2333A>G (p.Glu778Gly)
c.2492A>G (p.Glu831Gly)
c.2095A>G
c.1674A>G
c.811A>G (p.Arg271Gly)
c.2189A>G (p.Glu730Gly)
Xg.53984973T>GCA413251776PHF8c.2081A>C (p.Glu694Ala)
c.2384A>C (p.Glu795Ala)
c.*839A>C (n.*839A>C)
c.*1826A>C (n.*1826A>C)
n.1748A>C
c.2333A>C (p.Glu778Ala)
c.2492A>C (p.Glu831Ala)
c.2095A>C
c.1674A>C
c.811A>C (p.Arg271=)
c.2189A>C (p.Glu730Ala)
Xg.53984974C>ACA413251781PHF8c.2080G>T (p.Glu694Ter)
c.2383G>T (p.Glu795Ter)
c.*838G>T (n.*838G>T)
c.*1825G>T (n.*1825G>T)
n.1747G>T
c.2332G>T (p.Glu778Ter)
c.2491G>T (p.Glu831Ter)
c.2094G>T
c.1673G>T
c.810G>T (p.Arg270Ser)
c.2188G>T (p.Glu730Ter)
Xg.53984974C>GCA413251784PHF8c.2080G>C (p.Glu694Gln)
c.2383G>C (p.Glu795Gln)
c.*838G>C (n.*838G>C)
c.*1825G>C (n.*1825G>C)
n.1747G>C
c.2332G>C (p.Glu778Gln)
c.2491G>C (p.Glu831Gln)
c.2094G>C
c.1673G>C
c.810G>C (p.Arg270Ser)
c.2188G>C (p.Glu730Gln)
Xg.53984974C>TCA413251786PHF8c.2080G>A (p.Glu694Lys)
c.2383G>A (p.Glu795Lys)
c.*838G>A (n.*838G>A)
c.*1825G>A (n.*1825G>A)
n.1747G>A
c.2332G>A (p.Glu778Lys)
c.2491G>A (p.Glu831Lys)
c.2094G>A
c.1673G>A
c.810G>A (p.Arg270=)
c.2188G>A (p.Glu730Lys)
Xg.53984975C>ACA413251789PHF8c.2079G>T (p.Glu693Asp)
c.2382G>T (p.Glu794Asp)
c.*837G>T (n.*837G>T)
c.*1824G>T (n.*1824G>T)
n.1746G>T
c.2331G>T (p.Glu777Asp)
c.2490G>T (p.Glu830Asp)
c.2093G>T
c.1672G>T
c.809G>T (p.Arg270Met)
c.2187G>T (p.Glu729Asp)
Xg.53984975C>GCA413251792PHF8c.2079G>C (p.Glu693Asp)
c.2382G>C (p.Glu794Asp)
c.*837G>C (n.*837G>C)
c.*1824G>C (n.*1824G>C)
n.1746G>C
c.2331G>C (p.Glu777Asp)
c.2490G>C (p.Glu830Asp)
c.2093G>C
c.1672G>C
c.809G>C (p.Arg270Thr)
c.2187G>C (p.Glu729Asp)
Xg.53984975C>TCA413251794PHF8c.2079G>A (p.Glu693=)
c.2382G>A (p.Glu794=)
c.*837G>A (n.*837G>A)
c.*1824G>A (n.*1824G>A)
n.1746G>A
c.2331G>A (p.Glu777=)
c.2490G>A (p.Glu830=)
c.2093G>A
c.1672G>A
c.809G>A (p.Arg270Lys)
c.2187G>A (p.Glu729=)
Xg.53984976T>ACA413251797PHF8c.2078A>T (p.Glu693Val)
c.2381A>T (p.Glu794Val)
c.*836A>T (n.*836A>T)
c.*1823A>T (n.*1823A>T)
n.1745A>T
c.2330A>T (p.Glu777Val)
c.2489A>T (p.Glu830Val)
c.2092A>T
c.1671A>T
c.808A>T (p.Arg270Trp)
c.2186A>T (p.Glu729Val)
Xg.53984976T>CCA413251799PHF8c.2078A>G (p.Glu693Gly)
c.2381A>G (p.Glu794Gly)
c.*836A>G (n.*836A>G)
c.*1823A>G (n.*1823A>G)
n.1745A>G
c.2330A>G (p.Glu777Gly)
c.2489A>G (p.Glu830Gly)
c.2092A>G
c.1671A>G
c.808A>G (p.Arg270Gly)
c.2186A>G (p.Glu729Gly)
Xg.53984976T>GCA413251802PHF8c.2078A>C (p.Glu693Ala)
c.2381A>C (p.Glu794Ala)
c.*836A>C (n.*836A>C)
c.*1823A>C (n.*1823A>C)
n.1745A>C
c.2330A>C (p.Glu777Ala)
c.2489A>C (p.Glu830Ala)
c.2092A>C
c.1671A>C
c.808A>C (p.Arg270=)
c.2186A>C (p.Glu729Ala)
Xg.53984977C>ACA413251804PHF8c.2077G>T (p.Glu693Ter)
c.2380G>T (p.Glu794Ter)
c.*835G>T (n.*835G>T)
c.*1822G>T (n.*1822G>T)
n.1744G>T
c.2329G>T (p.Glu777Ter)
c.2488G>T (p.Glu830Ter)
c.2091G>T
c.1670G>T
c.807G>T (p.Arg269Ser)
c.2185G>T (p.Glu729Ter)
Xg.53984977C>GCA413251806PHF8c.2077G>C (p.Glu693Gln)
c.2380G>C (p.Glu794Gln)
c.*835G>C (n.*835G>C)
c.*1822G>C (n.*1822G>C)
n.1744G>C
c.2329G>C (p.Glu777Gln)
c.2488G>C (p.Glu830Gln)
c.2091G>C
c.1670G>C
c.807G>C (p.Arg269Ser)
c.2185G>C (p.Glu729Gln)
Xg.53984977C>TCA413251809PHF8c.2077G>A (p.Glu693Lys)
c.2380G>A (p.Glu794Lys)
c.*835G>A (n.*835G>A)
c.*1822G>A (n.*1822G>A)
n.1744G>A
c.2329G>A (p.Glu777Lys)
c.2488G>A (p.Glu830Lys)
c.2091G>A
c.1670G>A
c.807G>A (p.Arg269=)
c.2185G>A (p.Glu729Lys)
Xg.53984978C>ACA413251816PHF8c.2076G>T (p.Glu692Asp)
c.2379G>T (p.Glu793Asp)
c.*834G>T (n.*834G>T)
c.*1821G>T (n.*1821G>T)
n.1743G>T
c.2328G>T (p.Glu776Asp)
c.2487G>T (p.Glu829Asp)
c.2090G>T
c.1669G>T
c.806G>T (p.Arg269Met)
c.2184G>T (p.Glu728Asp)
Xg.53984978C>GCA413251814PHF8c.2076G>C (p.Glu692Asp)
c.2379G>C (p.Glu793Asp)
c.*834G>C (n.*834G>C)
c.*1821G>C (n.*1821G>C)
n.1743G>C
c.2328G>C (p.Glu776Asp)
c.2487G>C (p.Glu829Asp)
c.2090G>C
c.1669G>C
c.806G>C (p.Arg269Thr)
c.2184G>C (p.Glu728Asp)
Xg.53984978C>TCA413251812PHF8c.2076G>A (p.Glu692=)
c.2379G>A (p.Glu793=)
c.*834G>A (n.*834G>A)
c.*1821G>A (n.*1821G>A)
n.1743G>A
c.2328G>A (p.Glu776=)
c.2487G>A (p.Glu829=)
c.2090G>A
c.1669G>A
c.806G>A (p.Arg269Lys)
c.2184G>A (p.Glu728=)
Xg.53984979T>ACA413251819PHF8c.2075A>T (p.Glu692Val)
c.2378A>T (p.Glu793Val)
c.*833A>T (n.*833A>T)
c.*1820A>T (n.*1820A>T)
n.1742A>T
c.2327A>T (p.Glu776Val)
c.2486A>T (p.Glu829Val)
c.2089A>T
c.1668A>T
c.805A>T (p.Arg269Trp)
c.2183A>T (p.Glu728Val)
Xg.53984979T>CCA413251823PHF8c.2075A>G (p.Glu692Gly)
c.2378A>G (p.Glu793Gly)
c.*833A>G (n.*833A>G)
c.*1820A>G (n.*1820A>G)
n.1742A>G
c.2327A>G (p.Glu776Gly)
c.2486A>G (p.Glu829Gly)
c.2089A>G
c.1668A>G
c.805A>G (p.Arg269Gly)
c.2183A>G (p.Glu728Gly)
Xg.53984979T>GCA413251821PHF8c.2075A>C (p.Glu692Ala)
c.2378A>C (p.Glu793Ala)
c.*833A>C (n.*833A>C)
c.*1820A>C (n.*1820A>C)
n.1742A>C
c.2327A>C (p.Glu776Ala)
c.2486A>C (p.Glu829Ala)
c.2089A>C
c.1668A>C
c.805A>C (p.Arg269=)
c.2183A>C (p.Glu728Ala)
Xg.53984980C>ACA413251826PHF8c.2074G>T (p.Glu692Ter)
c.2377G>T (p.Glu793Ter)
c.*832G>T (n.*832G>T)
c.*1819G>T (n.*1819G>T)
n.1741G>T
c.2326G>T (p.Glu776Ter)
c.2485G>T (p.Glu829Ter)
c.2088G>T
c.1667G>T
c.804G>T (p.Arg268Ser)
c.2182G>T (p.Glu728Ter)
Xg.53984980C>GCA413251828PHF8c.2074G>C (p.Glu692Gln)
c.2377G>C (p.Glu793Gln)
c.*832G>C (n.*832G>C)
c.*1819G>C (n.*1819G>C)
n.1741G>C
c.2326G>C (p.Glu776Gln)
c.2485G>C (p.Glu829Gln)
c.2088G>C
c.1667G>C
c.804G>C (p.Arg268Ser)
c.2182G>C (p.Glu728Gln)
Xg.53984980C>TCA413251831PHF8c.2074G>A (p.Glu692Lys)
c.2377G>A (p.Glu793Lys)
c.*832G>A (n.*832G>A)
c.*1819G>A (n.*1819G>A)
n.1741G>A
c.2326G>A (p.Glu776Lys)
c.2485G>A (p.Glu829Lys)
c.2088G>A
c.1667G>A
c.804G>A (p.Arg268=)
c.2182G>A (p.Glu728Lys)
Xg.53984981C>ACA413251834PHF8c.2073G>T (p.Glu691Asp)
c.2376G>T (p.Glu792Asp)
c.*831G>T (n.*831G>T)
c.*1818G>T (n.*1818G>T)
n.1740G>T
c.2325G>T (p.Glu775Asp)
c.2484G>T (p.Glu828Asp)
c.2087G>T
c.1666G>T
c.803G>T (p.Arg268Met)
c.2181G>T (p.Glu727Asp)
Xg.53984981C=CA2430030658PHF8c.2073G= (p.Glu691=)
c.2376G= (p.Glu792=)
c.*831G= (n.*831G=)
c.*1818G= (n.*1818G=)
n.1740G=
c.2325G= (p.Glu775=)
c.2484G= (p.Glu828=)
c.2087G=
c.1666G=
c.803G= (p.Arg268=)
c.2181G= (p.Glu727=)
Xg.53984981C>GCA413251836PHF8c.2073G>C (p.Glu691Asp)
c.2376G>C (p.Glu792Asp)
c.*831G>C (n.*831G>C)
c.*1818G>C (n.*1818G>C)
n.1740G>C
c.2325G>C (p.Glu775Asp)
c.2484G>C (p.Glu828Asp)
c.2087G>C
c.1666G>C
c.803G>C (p.Arg268Thr)
c.2181G>C (p.Glu727Asp)
Xg.53984981C>TCA413251838PHF8c.2073G>A (p.Glu691=)
c.2376G>A (p.Glu792=)
c.*831G>A (n.*831G>A)
c.*1818G>A (n.*1818G>A)
n.1740G>A
c.2325G>A (p.Glu775=)
c.2484G>A (p.Glu828=)
c.2087G>A
c.1666G>A
c.803G>A (p.Arg268Lys)
c.2181G>A (p.Glu727=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53984982T>ACA413251846PHF8c.2072A>T (p.Glu691Val)
c.2375A>T (p.Glu792Val)
c.*830A>T (n.*830A>T)
c.*1817A>T (n.*1817A>T)
n.1739A>T
c.2324A>T (p.Glu775Val)
c.2483A>T (p.Glu828Val)
c.2086A>T
c.1665A>T
c.802A>T (p.Arg268Trp)
c.2180A>T (p.Glu727Val)
Xg.53984982T>CCA413251844PHF8c.2072A>G (p.Glu691Gly)
c.2375A>G (p.Glu792Gly)
c.*830A>G (n.*830A>G)
c.*1817A>G (n.*1817A>G)
n.1739A>G
c.2324A>G (p.Glu775Gly)
c.2483A>G (p.Glu828Gly)
c.2086A>G
c.1665A>G
c.802A>G (p.Arg268Gly)
c.2180A>G (p.Glu727Gly)
Xg.53984982T>GCA413251842PHF8c.2072A>C (p.Glu691Ala)
c.2375A>C (p.Glu792Ala)
c.*830A>C (n.*830A>C)
c.*1817A>C (n.*1817A>C)
n.1739A>C
c.2324A>C (p.Glu775Ala)
c.2483A>C (p.Glu828Ala)
c.2086A>C
c.1665A>C
c.802A>C (p.Arg268=)
c.2180A>C (p.Glu727Ala)
Xg.53984983C>ACA413251849PHF8c.2071G>T (p.Glu691Ter)
c.2374G>T (p.Glu792Ter)
c.*829G>T (n.*829G>T)
c.*1816G>T (n.*1816G>T)
n.1738G>T
c.2323G>T (p.Glu775Ter)
c.2482G>T (p.Glu828Ter)
c.2085G>T
c.1664G>T
c.801G>T (p.Arg267Ser)
c.2179G>T (p.Glu727Ter)
Xg.53984983C>GCA413251851PHF8c.2071G>C (p.Glu691Gln)
c.2374G>C (p.Glu792Gln)
c.*829G>C (n.*829G>C)
c.*1816G>C (n.*1816G>C)
n.1738G>C
c.2323G>C (p.Glu775Gln)
c.2482G>C (p.Glu828Gln)
c.2085G>C
c.1664G>C
c.801G>C (p.Arg267Ser)
c.2179G>C (p.Glu727Gln)
Xg.53984983C>TCA413251853PHF8c.2071G>A (p.Glu691Lys)
c.2374G>A (p.Glu792Lys)
c.*829G>A (n.*829G>A)
c.*1816G>A (n.*1816G>A)
n.1738G>A
c.2323G>A (p.Glu775Lys)
c.2482G>A (p.Glu828Lys)
c.2085G>A
c.1664G>A
c.801G>A (p.Arg267=)
c.2179G>A (p.Glu727Lys)
Xg.53984984C>ACA413251856PHF8c.2070G>T (p.Glu690Asp)
c.2373G>T (p.Glu791Asp)
c.*828G>T (n.*828G>T)
c.*1815G>T (n.*1815G>T)
n.1737G>T
c.2322G>T (p.Glu774Asp)
c.2481G>T (p.Glu827Asp)
c.2084G>T
c.1663G>T
c.800G>T (p.Arg267Met)
c.2178G>T (p.Glu726Asp)
Xg.53984984C>GCA413251858PHF8c.2070G>C (p.Glu690Asp)
c.2373G>C (p.Glu791Asp)
c.*828G>C (n.*828G>C)
c.*1815G>C (n.*1815G>C)
n.1737G>C
c.2322G>C (p.Glu774Asp)
c.2481G>C (p.Glu827Asp)
c.2084G>C
c.1663G>C
c.800G>C (p.Arg267Thr)
c.2178G>C (p.Glu726Asp)
Xg.53984984C>TCA413251860PHF8c.2070G>A (p.Glu690=)
c.2373G>A (p.Glu791=)
c.*828G>A (n.*828G>A)
c.*1815G>A (n.*1815G>A)
n.1737G>A
c.2322G>A (p.Glu774=)
c.2481G>A (p.Glu827=)
c.2084G>A
c.1663G>A
c.800G>A (p.Arg267Lys)
c.2178G>A (p.Glu726=)
Xg.53984985T>ACA413251863PHF8c.2069A>T (p.Glu690Val)
c.2372A>T (p.Glu791Val)
c.*827A>T (n.*827A>T)
c.*1814A>T (n.*1814A>T)
n.1736A>T
c.2321A>T (p.Glu774Val)
c.2480A>T (p.Glu827Val)
c.2083A>T
c.1662A>T
c.799A>T (p.Arg267Trp)
c.2177A>T (p.Glu726Val)
Xg.53984985T>CCA413251867PHF8c.2069A>G (p.Glu690Gly)
c.2372A>G (p.Glu791Gly)
c.*827A>G (n.*827A>G)
c.*1814A>G (n.*1814A>G)
n.1736A>G
c.2321A>G (p.Glu774Gly)
c.2480A>G (p.Glu827Gly)
c.2083A>G
c.1662A>G
c.799A>G (p.Arg267Gly)
c.2177A>G (p.Glu726Gly)
Xg.53984985T>GCA413251864PHF8c.2069A>C (p.Glu690Ala)
c.2372A>C (p.Glu791Ala)
c.*827A>C (n.*827A>C)
c.*1814A>C (n.*1814A>C)
n.1736A>C
c.2321A>C (p.Glu774Ala)
c.2480A>C (p.Glu827Ala)
c.2083A>C
c.1662A>C
c.799A>C (p.Arg267=)
c.2177A>C (p.Glu726Ala)
Xg.53984986C>ACA413251869PHF8c.2068G>T (p.Glu690Ter)
c.2371G>T (p.Glu791Ter)
c.*826G>T (n.*826G>T)
c.*1813G>T (n.*1813G>T)
n.1735G>T
c.2320G>T (p.Glu774Ter)
c.2479G>T (p.Glu827Ter)
c.2082G>T
c.1661G>T
c.798G>T (p.Ala266=)
c.2176G>T (p.Glu726Ter)
Xg.53984986C=CA2430030659PHF8c.2068G= (p.Glu690=)
c.2371G= (p.Glu791=)
c.*826G= (n.*826G=)
c.*1813G= (n.*1813G=)
n.1735G=
c.2320G= (p.Glu774=)
c.2479G= (p.Glu827=)
c.2082G=
c.1661G=
c.798G= (p.Ala266=)
c.2176G= (p.Glu726=)
Xg.53984986C>GCA413251871PHF8c.2068G>C (p.Glu690Gln)
c.2371G>C (p.Glu791Gln)
c.*826G>C (n.*826G>C)
c.*1813G>C (n.*1813G>C)
n.1735G>C
c.2320G>C (p.Glu774Gln)
c.2479G>C (p.Glu827Gln)
c.2082G>C
c.1661G>C
c.798G>C (p.Ala266=)
c.2176G>C (p.Glu726Gln)
Xg.53984986C>TCA413251873PHF8c.2068G>A (p.Glu690Lys)
c.2371G>A (p.Glu791Lys)
c.*826G>A (n.*826G>A)
c.*1813G>A (n.*1813G>A)
n.1735G>A
c.2320G>A (p.Glu774Lys)
c.2479G>A (p.Glu827Lys)
c.2082G>A
c.1661G>A
c.798G>A (p.Ala266=)
c.2176G>A (p.Glu726Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.53984987G>ACA413251876PHF8c.2067C>T (p.Ser689=)
c.2370C>T (p.Ser790=)
c.*825C>T (n.*825C>T)
c.*1812C>T (n.*1812C>T)
n.1734C>T
c.2319C>T (p.Ser773=)
c.2478C>T (p.Ser826=)
c.2081C>T
c.1660C>T
c.797C>T (p.Ala266Val)
c.2175C>T (p.Ser725=)
 dbSNP gnomAD v4
Xg.53984987G>CCA413251878PHF8c.2067C>G (p.Ser689Arg)
c.2370C>G (p.Ser790Arg)
c.*825C>G (n.*825C>G)
c.*1812C>G (n.*1812C>G)
n.1734C>G
c.2319C>G (p.Ser773Arg)
c.2478C>G (p.Ser826Arg)
c.2081C>G
c.1660C>G
c.797C>G (p.Ala266Gly)
c.2175C>G (p.Ser725Arg)
Xg.53984987G=CA2430030660PHF8c.2067C= (p.Ser689=)
c.2370C= (p.Ser790=)
c.*825C= (n.*825C=)
c.*1812C= (n.*1812C=)
n.1734C=
c.2319C= (p.Ser773=)
c.2478C= (p.Ser826=)
c.2081C=
c.1660C=
c.797C= (p.Ala266=)
c.2175C= (p.Ser725=)
Xg.53984987G>TCA413251880PHF8c.2067C>A (p.Ser689Arg)
c.2370C>A (p.Ser790Arg)
c.*825C>A (n.*825C>A)
c.*1812C>A (n.*1812C>A)
n.1734C>A
c.2319C>A (p.Ser773Arg)
c.2478C>A (p.Ser826Arg)
c.2081C>A
c.1660C>A
c.797C>A (p.Ala266Glu)
c.2175C>A (p.Ser725Arg)
Xg.53984988C>ACA413251884PHF8c.2066G>T (p.Ser689Ile)
c.2369G>T (p.Ser790Ile)
c.*824G>T (n.*824G>T)
c.*1811G>T (n.*1811G>T)
n.1733G>T
c.2318G>T (p.Ser773Ile)
c.2477G>T (p.Ser826Ile)
c.2080G>T
c.1659G>T
c.796G>T (p.Ala266Ser)
c.2174G>T (p.Ser725Ile)
Xg.53984988C>GCA413251886PHF8c.2066G>C (p.Ser689Thr)
c.2369G>C (p.Ser790Thr)
c.*824G>C (n.*824G>C)
c.*1811G>C (n.*1811G>C)
n.1733G>C
c.2318G>C (p.Ser773Thr)
c.2477G>C (p.Ser826Thr)
c.2080G>C
c.1659G>C
c.796G>C (p.Ala266Pro)
c.2174G>C (p.Ser725Thr)
Xg.53984988C>TCA413251888PHF8c.2066G>A (p.Ser689Asn)
c.2369G>A (p.Ser790Asn)
c.*824G>A (n.*824G>A)
c.*1811G>A (n.*1811G>A)
n.1733G>A
c.2318G>A (p.Ser773Asn)
c.2477G>A (p.Ser826Asn)
c.2080G>A
c.1659G>A
c.796G>A (p.Ala266Thr)
c.2174G>A (p.Ser725Asn)
 gnomAD v4
Xg.53984989T>ACA413251891PHF8c.2065A>T (p.Ser689Cys)
c.2368A>T (p.Ser790Cys)
c.*823A>T (n.*823A>T)
c.*1810A>T (n.*1810A>T)
n.1732A>T
c.2317A>T (p.Ser773Cys)
c.2476A>T (p.Ser826Cys)
c.2079A>T
c.1658A>T
c.795A>T (p.Arg265Ser)
c.2173A>T (p.Ser725Cys)
Xg.53984989T>CCA10423302PHF8c.2065A>G (p.Ser689Gly)
c.2368A>G (p.Ser790Gly)
c.*823A>G (n.*823A>G)
c.*1810A>G (n.*1810A>G)
n.1732A>G
c.2317A>G (p.Ser773Gly)
c.2476A>G (p.Ser826Gly)
c.2079A>G
c.1658A>G
c.795A>G (p.Arg265=)
c.2173A>G (p.Ser725Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53984989T>GCA413251895PHF8c.2065A>C (p.Ser689Arg)
c.2368A>C (p.Ser790Arg)
c.*823A>C (n.*823A>C)
c.*1810A>C (n.*1810A>C)
n.1732A>C
c.2317A>C (p.Ser773Arg)
c.2476A>C (p.Ser826Arg)
c.2079A>C
c.1658A>C
c.795A>C (p.Arg265Ser)
c.2173A>C (p.Ser725Arg)
Xg.53984989T=CA2430030661PHF8c.2065A= (p.Ser689=)
c.2368A= (p.Ser790=)
c.*823A= (n.*823A=)
c.*1810A= (n.*1810A=)
n.1732A=
c.2317A= (p.Ser773=)
c.2476A= (p.Ser826=)
c.2079A=
c.1658A=
c.795A= (p.Arg265=)
c.2173A= (p.Ser725=)
Xg.53984990C>ACA413251898PHF8c.2064G>T (p.Glu688Asp)
c.2367G>T (p.Glu789Asp)
c.*822G>T (n.*822G>T)
c.*1809G>T (n.*1809G>T)
n.1731G>T
c.2316G>T (p.Glu772Asp)
c.2475G>T (p.Glu825Asp)
c.2078G>T
c.1657G>T
c.794G>T (p.Arg265Ile)
c.2172G>T (p.Glu724Asp)
Xg.53984990C=CA2430030662PHF8c.2064G= (p.Glu688=)
c.2367G= (p.Glu789=)
c.*822G= (n.*822G=)
c.*1809G= (n.*1809G=)
n.1731G=
c.2316G= (p.Glu772=)
c.2475G= (p.Glu825=)
c.2078G=
c.1657G=
c.794G= (p.Arg265=)
c.2172G= (p.Glu724=)
Xg.53984990C>GCA413251902PHF8c.2064G>C (p.Glu688Asp)
c.2367G>C (p.Glu789Asp)
c.*822G>C (n.*822G>C)
c.*1809G>C (n.*1809G>C)
n.1731G>C
c.2316G>C (p.Glu772Asp)
c.2475G>C (p.Glu825Asp)
c.2078G>C
c.1657G>C
c.794G>C (p.Arg265Thr)
c.2172G>C (p.Glu724Asp)
 dbSNP gnomAD v4
Xg.53984990C>TCA413251900PHF8c.2064G>A (p.Glu688=)
c.2367G>A (p.Glu789=)
c.*822G>A (n.*822G>A)
c.*1809G>A (n.*1809G>A)
n.1731G>A
c.2316G>A (p.Glu772=)
c.2475G>A (p.Glu825=)
c.2078G>A
c.1657G>A
c.794G>A (p.Arg265Lys)
c.2172G>A (p.Glu724=)
 gnomAD v4
Xg.53984991T>ACA413251905PHF8c.2063A>T (p.Glu688Val)
c.2366A>T (p.Glu789Val)
c.*821A>T (n.*821A>T)
c.*1808A>T (n.*1808A>T)
n.1730A>T
c.2315A>T (p.Glu772Val)
c.2474A>T (p.Glu825Val)
c.2077A>T
c.1656A>T
c.793A>T (p.Arg265Ter)
c.2171A>T (p.Glu724Val)
Xg.53984991T>CCA413251907PHF8c.2063A>G (p.Glu688Gly)
c.2366A>G (p.Glu789Gly)
c.*821A>G (n.*821A>G)
c.*1808A>G (n.*1808A>G)
n.1730A>G
c.2315A>G (p.Glu772Gly)
c.2474A>G (p.Glu825Gly)
c.2077A>G
c.1656A>G
c.793A>G (p.Arg265Gly)
c.2171A>G (p.Glu724Gly)
Xg.53984991T>GCA413251909PHF8c.2063A>C (p.Glu688Ala)
c.2366A>C (p.Glu789Ala)
c.*821A>C (n.*821A>C)
c.*1808A>C (n.*1808A>C)
n.1730A>C
c.2315A>C (p.Glu772Ala)
c.2474A>C (p.Glu825Ala)
c.2077A>C
c.1656A>C
c.793A>C (p.Arg265=)
c.2171A>C (p.Glu724Ala)
Xg.53984992C>ACA413251912PHF8c.2062G>T (p.Glu688Ter)
c.2365G>T (p.Glu789Ter)
c.*820G>T (n.*820G>T)
c.*1807G>T (n.*1807G>T)
n.1729G>T
c.2314G>T (p.Glu772Ter)
c.2473G>T (p.Glu825Ter)
c.2076G>T
c.1655G>T
c.792G>T (p.Pro264=)
c.2170G>T (p.Glu724Ter)
Xg.53984992C=CA2430030663PHF8c.2062G= (p.Glu688=)
c.2365G= (p.Glu789=)
c.*820G= (n.*820G=)
c.*1807G= (n.*1807G=)
n.1729G=
c.2314G= (p.Glu772=)
c.2473G= (p.Glu825=)
c.2076G=
c.1655G=
c.792G= (p.Pro264=)
c.2170G= (p.Glu724=)
Xg.53984992C>GCA413251914PHF8c.2062G>C (p.Glu688Gln)
c.2365G>C (p.Glu789Gln)
c.*820G>C (n.*820G>C)
c.*1807G>C (n.*1807G>C)
n.1729G>C
c.2314G>C (p.Glu772Gln)
c.2473G>C (p.Glu825Gln)
c.2076G>C
c.1655G>C
c.792G>C (p.Pro264=)
c.2170G>C (p.Glu724Gln)
Xg.53984992C>TCA10423303PHF8c.2062G>A (p.Glu688Lys)
c.2365G>A (p.Glu789Lys)
c.*820G>A (n.*820G>A)
c.*1807G>A (n.*1807G>A)
n.1729G>A
c.2314G>A (p.Glu772Lys)
c.2473G>A (p.Glu825Lys)
c.2076G>A
c.1655G>A
c.792G>A (p.Pro264=)
c.2170G>A (p.Glu724Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
Xg.53984993G>ACA413251918PHF8c.2061C>T (p.Thr687=)
c.2364C>T (p.Thr788=)
c.*819C>T (n.*819C>T)
c.*1806C>T (n.*1806C>T)
n.1728C>T
c.2313C>T (p.Thr771=)
c.2472C>T (p.Thr824=)
c.2075C>T
c.1654C>T
c.791C>T (p.Pro264Leu)
c.2169C>T (p.Thr723=)
 ClinVar gnomAD v4
Xg.53984993G>CCA413251920PHF8c.2061C>G (p.Thr687=)
c.2364C>G (p.Thr788=)
c.*819C>G (n.*819C>G)
c.*1806C>G (n.*1806C>G)
n.1728C>G
c.2313C>G (p.Thr771=)
c.2472C>G (p.Thr824=)
c.2075C>G
c.1654C>G
c.791C>G (p.Pro264Arg)
c.2169C>G (p.Thr723=)
Xg.53984993G>TCA413251923PHF8c.2061C>A (p.Thr687=)
c.2364C>A (p.Thr788=)
c.*819C>A (n.*819C>A)
c.*1806C>A (n.*1806C>A)
n.1728C>A
c.2313C>A (p.Thr771=)
c.2472C>A (p.Thr824=)
c.2075C>A
c.1654C>A
c.791C>A (p.Pro264Gln)
c.2169C>A (p.Thr723=)
Xg.53984994G>ACA413251925PHF8c.2060C>T (p.Thr687Ile)
c.2363C>T (p.Thr788Ile)
c.*818C>T (n.*818C>T)
c.*1805C>T (n.*1805C>T)
n.1727C>T
c.2312C>T (p.Thr771Ile)
c.2471C>T (p.Thr824Ile)
c.2074C>T
c.1653C>T
c.790C>T (p.Pro264Ser)
c.2168C>T (p.Thr723Ile)
Xg.53984994G>CCA413251928PHF8c.2060C>G (p.Thr687Ser)
c.2363C>G (p.Thr788Ser)
c.*818C>G (n.*818C>G)
c.*1805C>G (n.*1805C>G)
n.1727C>G
c.2312C>G (p.Thr771Ser)
c.2471C>G (p.Thr824Ser)
c.2074C>G
c.1653C>G
c.790C>G (p.Pro264Ala)
c.2168C>G (p.Thr723Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.53984994G=CA2430030664PHF8c.2060C= (p.Thr687=)
c.2363C= (p.Thr788=)
c.*818C= (n.*818C=)
c.*1805C= (n.*1805C=)
n.1727C=
c.2312C= (p.Thr771=)
c.2471C= (p.Thr824=)
c.2074C=
c.1653C=
c.790C= (p.Pro264=)
c.2168C= (p.Thr723=)
Xg.53984994G>TCA413251930PHF8c.2060C>A (p.Thr687Asn)
c.2363C>A (p.Thr788Asn)
c.*818C>A (n.*818C>A)
c.*1805C>A (n.*1805C>A)
n.1727C>A
c.2312C>A (p.Thr771Asn)
c.2471C>A (p.Thr824Asn)
c.2074C>A
c.1653C>A
c.790C>A (p.Pro264Thr)
c.2168C>A (p.Thr723Asn)
Xg.53984995T>ACA413251939PHF8c.2059A>T (p.Thr687Ser)
c.2362A>T (p.Thr788Ser)
c.*817A>T (n.*817A>T)
c.*1804A>T (n.*1804A>T)
n.1726A>T
c.2311A>T (p.Thr771Ser)
c.2470A>T (p.Thr824Ser)
c.2073A>T
c.1652A>T
c.789A>T (p.Glu263Asp)
c.2167A>T (p.Thr723Ser)
Xg.53984995T>CCA413251934PHF8c.2059A>G (p.Thr687Ala)
c.2362A>G (p.Thr788Ala)
c.*817A>G (n.*817A>G)
c.*1804A>G (n.*1804A>G)
n.1726A>G
c.2311A>G (p.Thr771Ala)
c.2470A>G (p.Thr824Ala)
c.2073A>G
c.1652A>G
c.789A>G (p.Glu263=)
c.2167A>G (p.Thr723Ala)
Xg.53984995T>GCA413251936PHF8c.2059A>C (p.Thr687Pro)
c.2362A>C (p.Thr788Pro)
c.*817A>C (n.*817A>C)
c.*1804A>C (n.*1804A>C)
n.1726A>C
c.2311A>C (p.Thr771Pro)
c.2470A>C (p.Thr824Pro)
c.2073A>C
c.1652A>C
c.789A>C (p.Glu263Asp)
c.2167A>C (p.Thr723Pro)
Xg.53984996T>ACA413251941PHF8c.2058A>T (p.Arg686Ser)
c.2361A>T (p.Arg787Ser)
c.*816A>T (n.*816A>T)
c.*1803A>T (n.*1803A>T)
n.1725A>T
c.2310A>T (p.Arg770Ser)
c.2469A>T (p.Arg823Ser)
c.2072A>T
c.1651A>T
c.788A>T (p.Glu263Val)
c.2166A>T (p.Arg722Ser)
Xg.53984996T>CCA413251943PHF8c.2058A>G (p.Arg686=)
c.2361A>G (p.Arg787=)
c.*816A>G (n.*816A>G)
c.*1803A>G (n.*1803A>G)
n.1725A>G
c.2310A>G (p.Arg770=)
c.2469A>G (p.Arg823=)
c.2072A>G
c.1651A>G
c.788A>G (p.Glu263Gly)
c.2166A>G (p.Arg722=)
Xg.53984996T>GCA413251946PHF8c.2058A>C (p.Arg686Ser)
c.2361A>C (p.Arg787Ser)
c.*816A>C (n.*816A>C)
c.*1803A>C (n.*1803A>C)
n.1725A>C
c.2310A>C (p.Arg770Ser)
c.2469A>C (p.Arg823Ser)
c.2072A>C
c.1651A>C
c.788A>C (p.Glu263Ala)
c.2166A>C (p.Arg722Ser)
Xg.53984997C>ACA413251948PHF8c.2057G>T (p.Arg686Ile)
c.2360G>T (p.Arg787Ile)
c.*815G>T (n.*815G>T)
c.*1802G>T (n.*1802G>T)
n.1724G>T
c.2309G>T (p.Arg770Ile)
c.2468G>T (p.Arg823Ile)
c.2071G>T
c.1650G>T
c.787G>T (p.Glu263Ter)
c.2165G>T (p.Arg722Ile)
Xg.53984997C>GCA413251951PHF8c.2057G>C (p.Arg686Thr)
c.2360G>C (p.Arg787Thr)
c.*815G>C (n.*815G>C)
c.*1802G>C (n.*1802G>C)
n.1724G>C
c.2309G>C (p.Arg770Thr)
c.2468G>C (p.Arg823Thr)
c.2071G>C
c.1650G>C
c.787G>C (p.Glu263Gln)
c.2165G>C (p.Arg722Thr)
Xg.53984997C>TCA413251953PHF8c.2057G>A (p.Arg686Lys)
c.2360G>A (p.Arg787Lys)
c.*815G>A (n.*815G>A)
c.*1802G>A (n.*1802G>A)
n.1724G>A
c.2309G>A (p.Arg770Lys)
c.2468G>A (p.Arg823Lys)
c.2071G>A
c.1650G>A
c.787G>A (p.Glu263Lys)
c.2165G>A (p.Arg722Lys)
Xg.53984998T>ACA413251956PHF8c.2056A>T (p.Arg686Ter)
c.2359A>T (p.Arg787Ter)
c.*814A>T (n.*814A>T)
c.*1801A>T (n.*1801A>T)
n.1723A>T
c.2308A>T (p.Arg770Ter)
c.2467A>T (p.Arg823Ter)
c.2070A>T
c.1649A>T
c.786A>T (p.Gly262=)
c.2164A>T (p.Arg722Ter)
Xg.53984998T>CCA413251958PHF8c.2056A>G (p.Arg686Gly)
c.2359A>G (p.Arg787Gly)
c.*814A>G (n.*814A>G)
c.*1801A>G (n.*1801A>G)
n.1723A>G
c.2308A>G (p.Arg770Gly)
c.2467A>G (p.Arg823Gly)
c.2070A>G
c.1649A>G
c.786A>G (p.Gly262=)
c.2164A>G (p.Arg722Gly)
Xg.53984998T>GCA516688822PHF8c.2056A>C (p.Arg686=)
c.2359A>C (p.Arg787=)
c.*814A>C (n.*814A>C)
c.*1801A>C (n.*1801A>C)
n.1723A>C
c.2308A>C (p.Arg770=)
c.2467A>C (p.Arg823=)
c.2070A>C
c.1649A>C
c.786A>C (p.Gly262=)
c.2164A>C (p.Arg722=)
Xg.53984999C>ACA413251960PHF8c.2055G>T (p.Trp685Cys)
c.2358G>T (p.Trp786Cys)
c.*813G>T (n.*813G>T)
c.*1800G>T (n.*1800G>T)
n.1722G>T
c.2307G>T (p.Trp769Cys)
c.2466G>T (p.Trp822Cys)
c.2069G>T
c.1648G>T
c.785G>T (p.Gly262Val)
c.2163G>T (p.Trp721Cys)
Xg.53984999C>GCA413251962PHF8c.2055G>C (p.Trp685Cys)
c.2358G>C (p.Trp786Cys)
c.*813G>C (n.*813G>C)
c.*1800G>C (n.*1800G>C)
n.1722G>C
c.2307G>C (p.Trp769Cys)
c.2466G>C (p.Trp822Cys)
c.2069G>C
c.1648G>C
c.785G>C (p.Gly262Ala)
c.2163G>C (p.Trp721Cys)
 COSMIC
Xg.53984999C>TCA413251964PHF8c.2055G>A (p.Trp685Ter)
c.2358G>A (p.Trp786Ter)
c.*813G>A (n.*813G>A)
c.*1800G>A (n.*1800G>A)
n.1722G>A
c.2307G>A (p.Trp769Ter)
c.2466G>A (p.Trp822Ter)
c.2069G>A
c.1648G>A
c.785G>A (p.Gly262Glu)
c.2163G>A (p.Trp721Ter)
Xg.53985000C>ACA413251971PHF8c.2054G>T (p.Trp685Leu)
c.2357G>T (p.Trp786Leu)
c.*812G>T (n.*812G>T)
c.*1799G>T (n.*1799G>T)
n.1721G>T
c.2306G>T (p.Trp769Leu)
c.2465G>T (p.Trp822Leu)
c.2068G>T
c.1647G>T
c.784G>T (p.Gly262Ter)
c.2162G>T (p.Trp721Leu)
Xg.53985000C>GCA413251968PHF8c.2054G>C (p.Trp685Ser)
c.2357G>C (p.Trp786Ser)
c.*812G>C (n.*812G>C)
c.*1799G>C (n.*1799G>C)
n.1721G>C
c.2306G>C (p.Trp769Ser)
c.2465G>C (p.Trp822Ser)
c.2068G>C
c.1647G>C
c.784G>C (p.Gly262Arg)
c.2162G>C (p.Trp721Ser)
Xg.53985000C>TCA413251967PHF8c.2054G>A (p.Trp685Ter)
c.2357G>A (p.Trp786Ter)
c.*812G>A (n.*812G>A)
c.*1799G>A (n.*1799G>A)
n.1721G>A
c.2306G>A (p.Trp769Ter)
c.2465G>A (p.Trp822Ter)
c.2068G>A
c.1647G>A
c.784G>A (p.Gly262Arg)
c.2162G>A (p.Trp721Ter)
Xg.53985001A>CCA413251974PHF8c.2053T>G (p.Trp685Gly)
c.2356T>G (p.Trp786Gly)
c.*811T>G (n.*811T>G)
c.*1798T>G (n.*1798T>G)
n.1720T>G
c.2305T>G (p.Trp769Gly)
c.2464T>G (p.Trp822Gly)
c.2067T>G
c.1646T>G
c.783T>G (p.Thr261=)
c.2161T>G (p.Trp721Gly)
 gnomAD v4
Xg.53985001A>GCA413251975PHF8c.2053T>C (p.Trp685Arg)
c.2356T>C (p.Trp786Arg)
c.*811T>C (n.*811T>C)
c.*1798T>C (n.*1798T>C)
n.1720T>C
c.2305T>C (p.Trp769Arg)
c.2464T>C (p.Trp822Arg)
c.2067T>C
c.1646T>C
c.783T>C (p.Thr261=)
c.2161T>C (p.Trp721Arg)
Xg.53985001A>TCA413251977PHF8c.2053T>A (p.Trp685Arg)
c.2356T>A (p.Trp786Arg)
c.*811T>A (n.*811T>A)
c.*1798T>A (n.*1798T>A)
n.1720T>A
c.2305T>A (p.Trp769Arg)
c.2464T>A (p.Trp822Arg)
c.2067T>A
c.1646T>A
c.783T>A (p.Thr261=)
c.2161T>A (p.Trp721Arg)
Xg.53985002G>ACA413251980PHF8c.2052C>T (p.Tyr684=)
c.2355C>T (p.Tyr785=)
c.*810C>T (n.*810C>T)
c.*1797C>T (n.*1797C>T)
n.1719C>T
c.2304C>T (p.Tyr768=)
c.2463C>T (p.Tyr821=)
c.2066C>T
c.1645C>T
c.782C>T (p.Thr261Ile)
c.2160C>T (p.Tyr720=)
 gnomAD v4
Xg.53985002G>CCA413251982PHF8c.2052C>G (p.Tyr684Ter)
c.2355C>G (p.Tyr785Ter)
c.*810C>G (n.*810C>G)
c.*1797C>G (n.*1797C>G)
n.1719C>G
c.2304C>G (p.Tyr768Ter)
c.2463C>G (p.Tyr821Ter)
c.2066C>G
c.1645C>G
c.782C>G (p.Thr261Ser)
c.2160C>G (p.Tyr720Ter)
Xg.53985002G>TCA413251984PHF8c.2052C>A (p.Tyr684Ter)
c.2355C>A (p.Tyr785Ter)
c.*810C>A (n.*810C>A)
c.*1797C>A (n.*1797C>A)
n.1719C>A
c.2304C>A (p.Tyr768Ter)
c.2463C>A (p.Tyr821Ter)
c.2066C>A
c.1645C>A
c.782C>A (p.Thr261Asn)
c.2160C>A (p.Tyr720Ter)
Xg.53985003T>ACA413251992PHF8c.2051A>T (p.Tyr684Phe)
c.2354A>T (p.Tyr785Phe)
c.*809A>T (n.*809A>T)
c.*1796A>T (n.*1796A>T)
n.1718A>T
c.2303A>T (p.Tyr768Phe)
c.2462A>T (p.Tyr821Phe)
c.2065A>T
c.1644A>T
c.781A>T (p.Thr261Ser)
c.2159A>T (p.Tyr720Phe)
Xg.53985003T>CCA413251990PHF8c.2051A>G (p.Tyr684Cys)
c.2354A>G (p.Tyr785Cys)
c.*809A>G (n.*809A>G)
c.*1796A>G (n.*1796A>G)
n.1718A>G
c.2303A>G (p.Tyr768Cys)
c.2462A>G (p.Tyr821Cys)
c.2065A>G
c.1644A>G
c.781A>G (p.Thr261Ala)
c.2159A>G (p.Tyr720Cys)
Xg.53985003T>GCA413251988PHF8c.2051A>C (p.Tyr684Ser)
c.2354A>C (p.Tyr785Ser)
c.*809A>C (n.*809A>C)
c.*1796A>C (n.*1796A>C)
n.1718A>C
c.2303A>C (p.Tyr768Ser)
c.2462A>C (p.Tyr821Ser)
c.2065A>C
c.1644A>C
c.781A>C (p.Thr261Pro)
c.2159A>C (p.Tyr720Ser)
Xg.53985004A>CCA413251995PHF8c.2050T>G (p.Tyr684Asp)
c.2353T>G (p.Tyr785Asp)
c.*808T>G (n.*808T>G)
c.*1795T>G (n.*1795T>G)
n.1717T>G
c.2302T>G (p.Tyr768Asp)
c.2461T>G (p.Tyr821Asp)
c.2064T>G
c.1643T>G
c.780T>G (p.His260Gln)
c.2158T>G (p.Tyr720Asp)
Xg.53985004A>GCA413251998PHF8c.2050T>C (p.Tyr684His)
c.2353T>C (p.Tyr785His)
c.*808T>C (n.*808T>C)
c.*1795T>C (n.*1795T>C)
n.1717T>C
c.2302T>C (p.Tyr768His)
c.2461T>C (p.Tyr821His)
c.2064T>C
c.1643T>C
c.780T>C (p.His260=)
c.2158T>C (p.Tyr720His)
Xg.53985004A>TCA413252000PHF8c.2050T>A (p.Tyr684Asn)
c.2353T>A (p.Tyr785Asn)
c.*808T>A (n.*808T>A)
c.*1795T>A (n.*1795T>A)
n.1717T>A
c.2302T>A (p.Tyr768Asn)
c.2461T>A (p.Tyr821Asn)
c.2064T>A
c.1643T>A
c.780T>A (p.His260Gln)
c.2158T>A (p.Tyr720Asn)
Xg.53985005T>ACA413252003PHF8c.2049A>T (p.Ala683=)
c.2352A>T (p.Ala784=)
c.*807A>T (n.*807A>T)
c.*1794A>T (n.*1794A>T)
n.1716A>T
c.2301A>T (p.Ala767=)
c.2460A>T (p.Ala820=)
c.2063A>T
c.1642A>T
c.779A>T (p.His260Leu)
c.2157A>T (p.Ala719=)
Xg.53985005T>CCA413252005PHF8c.2049A>G (p.Ala683=)
c.2352A>G (p.Ala784=)
c.*807A>G (n.*807A>G)
c.*1794A>G (n.*1794A>G)
n.1716A>G
c.2301A>G (p.Ala767=)
c.2460A>G (p.Ala820=)
c.2063A>G
c.1642A>G
c.779A>G (p.His260Arg)
c.2157A>G (p.Ala719=)
Xg.53985005T>GCA413252006PHF8c.2049A>C (p.Ala683=)
c.2352A>C (p.Ala784=)
c.*807A>C (n.*807A>C)
c.*1794A>C (n.*1794A>C)
n.1716A>C
c.2301A>C (p.Ala767=)
c.2460A>C (p.Ala820=)
c.2063A>C
c.1642A>C
c.779A>C (p.His260Pro)
c.2157A>C (p.Ala719=)
Xg.53985006G>ACA413252009PHF8c.2048C>T (p.Ala683Val)
c.2351C>T (p.Ala784Val)
c.*806C>T (n.*806C>T)
c.*1793C>T (n.*1793C>T)
n.1715C>T
c.2300C>T (p.Ala767Val)
c.2459C>T (p.Ala820Val)
c.2062C>T
c.1641C>T
c.778C>T (p.His260Tyr)
c.2156C>T (p.Ala719Val)
Xg.53985006G>CCA413252013PHF8c.2048C>G (p.Ala683Gly)
c.2351C>G (p.Ala784Gly)
c.*806C>G (n.*806C>G)
c.*1793C>G (n.*1793C>G)
n.1715C>G
c.2300C>G (p.Ala767Gly)
c.2459C>G (p.Ala820Gly)
c.2062C>G
c.1641C>G
c.778C>G (p.His260Asp)
c.2156C>G (p.Ala719Gly)
Xg.53985006G>TCA413252011PHF8c.2048C>A (p.Ala683Glu)
c.2351C>A (p.Ala784Glu)
c.*806C>A (n.*806C>A)
c.*1793C>A (n.*1793C>A)
n.1715C>A
c.2300C>A (p.Ala767Glu)
c.2459C>A (p.Ala820Glu)
c.2062C>A
c.1641C>A
c.778C>A (p.His260Asn)
c.2156C>A (p.Ala719Glu)
Xg.53985007C>ACA413252015PHF8c.2047G>T (p.Ala683Ser)
c.2350G>T (p.Ala784Ser)
c.*805G>T (n.*805G>T)
c.*1792G>T (n.*1792G>T)
n.1714G>T
c.2299G>T (p.Ala767Ser)
c.2458G>T (p.Ala820Ser)
c.2061G>T
c.1640G>T
c.777G>T (p.Gln259His)
c.2155G>T (p.Ala719Ser)
 dbSNP
Xg.53985007C=CA2430030665PHF8c.2047G= (p.Ala683=)
c.2350G= (p.Ala784=)
c.*805G= (n.*805G=)
c.*1792G= (n.*1792G=)
n.1714G=
c.2299G= (p.Ala767=)
c.2458G= (p.Ala820=)
c.2061G=
c.1640G=
c.777G= (p.Gln259=)
c.2155G= (p.Ala719=)
Xg.53985007C>GCA413252017PHF8c.2047G>C (p.Ala683Pro)
c.2350G>C (p.Ala784Pro)
c.*805G>C (n.*805G>C)
c.*1792G>C (n.*1792G>C)
n.1714G>C
c.2299G>C (p.Ala767Pro)
c.2458G>C (p.Ala820Pro)
c.2061G>C
c.1640G>C
c.777G>C (p.Gln259His)
c.2155G>C (p.Ala719Pro)
Xg.53985007C>TCA413252019PHF8c.2047G>A (p.Ala683Thr)
c.2350G>A (p.Ala784Thr)
c.*805G>A (n.*805G>A)
c.*1792G>A (n.*1792G>A)
n.1714G>A
c.2299G>A (p.Ala767Thr)
c.2458G>A (p.Ala820Thr)
c.2061G>A
c.1640G>A
c.777G>A (p.Gln259=)
c.2155G>A (p.Ala719Thr)
Xg.53985008T>ACA413252021PHF8c.2046A>T (p.Pro682=)
c.2349A>T (p.Pro783=)
c.*804A>T (n.*804A>T)
c.*1791A>T (n.*1791A>T)
n.1713A>T
c.2298A>T (p.Pro766=)
c.2457A>T (p.Pro819=)
c.2060A>T
c.1639A>T
c.776A>T (p.Gln259Leu)
c.2154A>T (p.Pro718=)
Xg.53985008T>CCA413252023PHF8c.2046A>G (p.Pro682=)
c.2349A>G (p.Pro783=)
c.*804A>G (n.*804A>G)
c.*1791A>G (n.*1791A>G)
n.1713A>G
c.2298A>G (p.Pro766=)
c.2457A>G (p.Pro819=)
c.2060A>G
c.1639A>G
c.776A>G (p.Gln259Arg)
c.2154A>G (p.Pro718=)
 gnomAD v4
Xg.53985008T>GCA413252025PHF8c.2046A>C (p.Pro682=)
c.2349A>C (p.Pro783=)
c.*804A>C (n.*804A>C)
c.*1791A>C (n.*1791A>C)
n.1713A>C
c.2298A>C (p.Pro766=)
c.2457A>C (p.Pro819=)
c.2060A>C
c.1639A>C
c.776A>C (p.Gln259Pro)
c.2154A>C (p.Pro718=)
Xg.53985009G>ACA413252028PHF8c.2045C>T (p.Pro682Leu)
c.2348C>T (p.Pro783Leu)
c.*803C>T (n.*803C>T)
c.*1790C>T (n.*1790C>T)
n.1712C>T
c.2297C>T (p.Pro766Leu)
c.2456C>T (p.Pro819Leu)
c.2059C>T
c.1638C>T
c.775C>T (p.Gln259Ter)
c.2153C>T (p.Pro718Leu)
 dbSNP gnomAD v2
Xg.53985009G>CCA413252031PHF8c.2045C>G (p.Pro682Arg)
c.2348C>G (p.Pro783Arg)
c.*803C>G (n.*803C>G)
c.*1790C>G (n.*1790C>G)
n.1712C>G
c.2297C>G (p.Pro766Arg)
c.2456C>G (p.Pro819Arg)
c.2059C>G
c.1638C>G
c.775C>G (p.Gln259Glu)
c.2153C>G (p.Pro718Arg)
Xg.53985009G=CA2430030666PHF8c.2045C= (p.Pro682=)
c.2348C= (p.Pro783=)
c.*803C= (n.*803C=)
c.*1790C= (n.*1790C=)
n.1712C=
c.2297C= (p.Pro766=)
c.2456C= (p.Pro819=)
c.2059C=
c.1638C=
c.775C= (p.Gln259=)
c.2153C= (p.Pro718=)
Xg.53985009G>TCA10423304PHF8c.2045C>A (p.Pro682Gln)
c.2348C>A (p.Pro783Gln)
c.*803C>A (n.*803C>A)
c.*1790C>A (n.*1790C>A)
n.1712C>A
c.2297C>A (p.Pro766Gln)
c.2456C>A (p.Pro819Gln)
c.2059C>A
c.1638C>A
c.775C>A (p.Gln259Lys)
c.2153C>A (p.Pro718Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985017_53985028delCA2693828082PHF8c.2034_2045del (p.Ile679_Pro682del)
c.2337_2348del (p.Ile780_Pro783del)
c.*792_*803del (n.*792_*803del)
c.*1779_*1790del (n.*1779_*1790del)
n.1701_1712del
c.2286_2297del (p.Ile763_Pro766del)
c.2445_2456del (p.Ile816_Pro819del)
c.2048_2059del
c.1627_1638del
c.764_775del (p.Pro255_Gly258del)
c.2142_2153del (p.Ile715_Pro718del)
 gnomAD v4
Xg.53985010G>ACA329924347PHF8c.2044C>T (p.Pro682Ser)
c.2347C>T (p.Pro783Ser)
c.*802C>T (n.*802C>T)
c.*1789C>T (n.*1789C>T)
n.1711C>T
c.2296C>T (p.Pro766Ser)
c.2455C>T (p.Pro819Ser)
c.2058C>T
c.1637C>T
c.774C>T (p.Gly258=)
c.2152C>T (p.Pro718Ser)
 dbSNP
Xg.53985010G>CCA413252037PHF8c.2044C>G (p.Pro682Ala)
c.2347C>G (p.Pro783Ala)
c.*802C>G (n.*802C>G)
c.*1789C>G (n.*1789C>G)
n.1711C>G
c.2296C>G (p.Pro766Ala)
c.2455C>G (p.Pro819Ala)
c.2058C>G
c.1637C>G
c.774C>G (p.Gly258=)
c.2152C>G (p.Pro718Ala)
Xg.53985010G=CA2430030667PHF8c.2044C= (p.Pro682=)
c.2347C= (p.Pro783=)
c.*802C= (n.*802C=)
c.*1789C= (n.*1789C=)
n.1711C=
c.2296C= (p.Pro766=)
c.2455C= (p.Pro819=)
c.2058C=
c.1637C=
c.774C= (p.Gly258=)
c.2152C= (p.Pro718=)
Xg.53985010G>TCA413252038PHF8c.2044C>A (p.Pro682Thr)
c.2347C>A (p.Pro783Thr)
c.*802C>A (n.*802C>A)
c.*1789C>A (n.*1789C>A)
n.1711C>A
c.2296C>A (p.Pro766Thr)
c.2455C>A (p.Pro819Thr)
c.2058C>A
c.1637C>A
c.774C>A (p.Gly258=)
c.2152C>A (p.Pro718Thr)
Xg.53985011C>ACA413252042PHF8c.2043G>T (p.Arg681=)
c.2346G>T (p.Arg782=)
c.*801G>T (n.*801G>T)
c.*1788G>T (n.*1788G>T)
n.1710G>T
c.2295G>T (p.Arg765=)
c.2454G>T (p.Arg818=)
c.2057G>T
c.1636G>T
c.773G>T (p.Gly258Val)
c.2151G>T (p.Arg717=)
 gnomAD v4
Xg.53985011C>GCA413252047PHF8c.2043G>C (p.Arg681=)
c.2346G>C (p.Arg782=)
c.*801G>C (n.*801G>C)
c.*1788G>C (n.*1788G>C)
n.1710G>C
c.2295G>C (p.Arg765=)
c.2454G>C (p.Arg818=)
c.2057G>C
c.1636G>C
c.773G>C (p.Gly258Ala)
c.2151G>C (p.Arg717=)
Xg.53985011C>TCA413252044PHF8c.2043G>A (p.Arg681=)
c.2346G>A (p.Arg782=)
c.*801G>A (n.*801G>A)
c.*1788G>A (n.*1788G>A)
n.1710G>A
c.2295G>A (p.Arg765=)
c.2454G>A (p.Arg818=)
c.2057G>A
c.1636G>A
c.773G>A (p.Gly258Asp)
c.2151G>A (p.Arg717=)
Xg.53985012C>ACA413252050PHF8c.2042G>T (p.Arg681Leu)
c.2345G>T (p.Arg782Leu)
c.*800G>T (n.*800G>T)
c.*1787G>T (n.*1787G>T)
n.1709G>T
c.2294G>T (p.Arg765Leu)
c.2453G>T (p.Arg818Leu)
c.2056G>T
c.1635G>T
c.772G>T (p.Gly258Cys)
c.2150G>T (p.Arg717Leu)
Xg.53985012C=CA2430030668PHF8c.2042G= (p.Arg681=)
c.2345G= (p.Arg782=)
c.*800G= (n.*800G=)
c.*1787G= (n.*1787G=)
n.1709G=
c.2294G= (p.Arg765=)
c.2453G= (p.Arg818=)
c.2056G=
c.1635G=
c.772G= (p.Gly258=)
c.2150G= (p.Arg717=)
Xg.53985012C>GCA413252052PHF8c.2042G>C (p.Arg681Pro)
c.2345G>C (p.Arg782Pro)
c.*800G>C (n.*800G>C)
c.*1787G>C (n.*1787G>C)
n.1709G>C
c.2294G>C (p.Arg765Pro)
c.2453G>C (p.Arg818Pro)
c.2056G>C
c.1635G>C
c.772G>C (p.Gly258Arg)
c.2150G>C (p.Arg717Pro)
 ClinVar dbSNP gnomAD v4
Xg.53985012C>TCA10423305PHF8c.2042G>A (p.Arg681Gln)
c.2345G>A (p.Arg782Gln)
c.*800G>A (n.*800G>A)
c.*1787G>A (n.*1787G>A)
n.1709G>A
c.2294G>A (p.Arg765Gln)
c.2453G>A (p.Arg818Gln)
c.2056G>A
c.1635G>A
c.772G>A (p.Gly258Ser)
c.2150G>A (p.Arg717Gln)
 ClinVar dbSNP ExAC gnomAD v4
Xg.53985013G>ACA413252057PHF8c.2041C>T (p.Arg681Trp)
c.2344C>T (p.Arg782Trp)
c.*799C>T (n.*799C>T)
c.*1786C>T (n.*1786C>T)
n.1708C>T
c.2293C>T (p.Arg765Trp)
c.2452C>T (p.Arg818Trp)
c.2055C>T
c.1634C>T
c.771C>T (p.Ser257=)
c.2149C>T (p.Arg717Trp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985013G>CCA413252059PHF8c.2041C>G (p.Arg681Gly)
c.2344C>G (p.Arg782Gly)
c.*799C>G (n.*799C>G)
c.*1786C>G (n.*1786C>G)
n.1708C>G
c.2293C>G (p.Arg765Gly)
c.2452C>G (p.Arg818Gly)
c.2055C>G
c.1634C>G
c.771C>G (p.Ser257Arg)
c.2149C>G (p.Arg717Gly)
Xg.53985013G=CA2430030669PHF8c.2041C= (p.Arg681=)
c.2344C= (p.Arg782=)
c.*799C= (n.*799C=)
c.*1786C= (n.*1786C=)
n.1708C=
c.2293C= (p.Arg765=)
c.2452C= (p.Arg818=)
c.2055C=
c.1634C=
c.771C= (p.Ser257=)
c.2149C= (p.Arg717=)
Xg.53985013G>TCA413252060PHF8c.2041C>A (p.Arg681=)
c.2344C>A (p.Arg782=)
c.*799C>A (n.*799C>A)
c.*1786C>A (n.*1786C>A)
n.1708C>A
c.2293C>A (p.Arg765=)
c.2452C>A (p.Arg818=)
c.2055C>A
c.1634C>A
c.771C>A (p.Ser257Arg)
c.2149C>A (p.Arg717=)
 dbSNP
Xg.53985014C>ACA413252062PHF8c.2040G>T (p.Lys680Asn)
c.2343G>T (p.Lys781Asn)
c.*798G>T (n.*798G>T)
c.*1785G>T (n.*1785G>T)
n.1707G>T
c.2292G>T (p.Lys764Asn)
c.2451G>T (p.Lys817Asn)
c.2054G>T
c.1633G>T
c.770G>T (p.Ser257Ile)
c.2148G>T (p.Lys716Asn)
Xg.53985014C>GCA413252064PHF8c.2040G>C (p.Lys680Asn)
c.2343G>C (p.Lys781Asn)
c.*798G>C (n.*798G>C)
c.*1785G>C (n.*1785G>C)
n.1707G>C
c.2292G>C (p.Lys764Asn)
c.2451G>C (p.Lys817Asn)
c.2054G>C
c.1633G>C
c.770G>C (p.Ser257Thr)
c.2148G>C (p.Lys716Asn)
Xg.53985014C>TCA413252067PHF8c.2040G>A (p.Lys680=)
c.2343G>A (p.Lys781=)
c.*798G>A (n.*798G>A)
c.*1785G>A (n.*1785G>A)
n.1707G>A
c.2292G>A (p.Lys764=)
c.2451G>A (p.Lys817=)
c.2054G>A
c.1633G>A
c.770G>A (p.Ser257Asn)
c.2148G>A (p.Lys716=)
Xg.53985015T>ACA413252069PHF8c.2039A>T (p.Lys680Met)
c.2342A>T (p.Lys781Met)
c.*797A>T (n.*797A>T)
c.*1784A>T (n.*1784A>T)
n.1706A>T
c.2291A>T (p.Lys764Met)
c.2450A>T (p.Lys817Met)
c.2053A>T
c.1632A>T
c.769A>T (p.Ser257Cys)
c.2147A>T (p.Lys716Met)
Xg.53985015T>CCA413252070PHF8c.2039A>G (p.Lys680Arg)
c.2342A>G (p.Lys781Arg)
c.*797A>G (n.*797A>G)
c.*1784A>G (n.*1784A>G)
n.1706A>G
c.2291A>G (p.Lys764Arg)
c.2450A>G (p.Lys817Arg)
c.2053A>G
c.1632A>G
c.769A>G (p.Ser257Gly)
c.2147A>G (p.Lys716Arg)
Xg.53985015T>GCA413252071PHF8c.2039A>C (p.Lys680Thr)
c.2342A>C (p.Lys781Thr)
c.*797A>C (n.*797A>C)
c.*1784A>C (n.*1784A>C)
n.1706A>C
c.2291A>C (p.Lys764Thr)
c.2450A>C (p.Lys817Thr)
c.2053A>C
c.1632A>C
c.769A>C (p.Ser257Arg)
c.2147A>C (p.Lys716Thr)
Xg.53985016T>ACA413252074PHF8c.2038A>T (p.Lys680Ter)
c.2341A>T (p.Lys781Ter)
c.*796A>T (n.*796A>T)
c.*1783A>T (n.*1783A>T)
n.1705A>T
c.2290A>T (p.Lys764Ter)
c.2449A>T (p.Lys817Ter)
c.2052A>T
c.1631A>T
c.768A>T (p.Ser256=)
c.2146A>T (p.Lys716Ter)
Xg.53985016T>CCA413252073PHF8c.2038A>G (p.Lys680Glu)
c.2341A>G (p.Lys781Glu)
c.*796A>G (n.*796A>G)
c.*1783A>G (n.*1783A>G)
n.1705A>G
c.2290A>G (p.Lys764Glu)
c.2449A>G (p.Lys817Glu)
c.2052A>G
c.1631A>G
c.768A>G (p.Ser256=)
c.2146A>G (p.Lys716Glu)
Xg.53985016T>GCA413252072PHF8c.2038A>C (p.Lys680Gln)
c.2341A>C (p.Lys781Gln)
c.*796A>C (n.*796A>C)
c.*1783A>C (n.*1783A>C)
n.1705A>C
c.2290A>C (p.Lys764Gln)
c.2449A>C (p.Lys817Gln)
c.2052A>C
c.1631A>C
c.768A>C (p.Ser256=)
c.2146A>C (p.Lys716Gln)
Xg.53985017G>ACA413252076PHF8c.2037C>T (p.Ile679=)
c.2340C>T (p.Ile780=)
c.*795C>T (n.*795C>T)
c.*1782C>T (n.*1782C>T)
n.1704C>T
c.2289C>T (p.Ile763=)
c.2448C>T (p.Ile816=)
c.2051C>T
c.1630C>T
c.767C>T (p.Ser256Leu)
c.2145C>T (p.Ile715=)
 gnomAD v4
Xg.53985017G>CCA413252078PHF8c.2037C>G (p.Ile679Met)
c.2340C>G (p.Ile780Met)
c.*795C>G (n.*795C>G)
c.*1782C>G (n.*1782C>G)
n.1704C>G
c.2289C>G (p.Ile763Met)
c.2448C>G (p.Ile816Met)
c.2051C>G
c.1630C>G
c.767C>G (p.Ser256Ter)
c.2145C>G (p.Ile715Met)
Xg.53985017G>TCA413252080PHF8c.2037C>A (p.Ile679=)
c.2340C>A (p.Ile780=)
c.*795C>A (n.*795C>A)
c.*1782C>A (n.*1782C>A)
n.1704C>A
c.2289C>A (p.Ile763=)
c.2448C>A (p.Ile816=)
c.2051C>A
c.1630C>A
c.767C>A (p.Ser256Ter)
c.2145C>A (p.Ile715=)
Xg.53985018A>CCA413252081PHF8c.2036T>G (p.Ile679Ser)
c.2339T>G (p.Ile780Ser)
c.*794T>G (n.*794T>G)
c.*1781T>G (n.*1781T>G)
n.1703T>G
c.2288T>G (p.Ile763Ser)
c.2447T>G (p.Ile816Ser)
c.2050T>G
c.1629T>G
c.766T>G (p.Ser256Ala)
c.2144T>G (p.Ile715Ser)
Xg.53985018A>GCA413252082PHF8c.2036T>C (p.Ile679Thr)
c.2339T>C (p.Ile780Thr)
c.*794T>C (n.*794T>C)
c.*1781T>C (n.*1781T>C)
n.1703T>C
c.2288T>C (p.Ile763Thr)
c.2447T>C (p.Ile816Thr)
c.2050T>C
c.1629T>C
c.766T>C (p.Ser256Pro)
c.2144T>C (p.Ile715Thr)
Xg.53985018A>TCA413252083PHF8c.2036T>A (p.Ile679Asn)
c.2339T>A (p.Ile780Asn)
c.*794T>A (n.*794T>A)
c.*1781T>A (n.*1781T>A)
n.1703T>A
c.2288T>A (p.Ile763Asn)
c.2447T>A (p.Ile816Asn)
c.2050T>A
c.1629T>A
c.766T>A (p.Ser256Thr)
c.2144T>A (p.Ile715Asn)
Xg.53985019T>ACA413252086PHF8c.2035A>T (p.Ile679Phe)
c.2338A>T (p.Ile780Phe)
c.*793A>T (n.*793A>T)
c.*1780A>T (n.*1780A>T)
n.1702A>T
c.2287A>T (p.Ile763Phe)
c.2446A>T (p.Ile816Phe)
c.2049A>T
c.1628A>T
c.765A>T (p.Pro255=)
c.2143A>T (p.Ile715Phe)
 dbSNP
Xg.53985019T>CCA413252092PHF8c.2035A>G (p.Ile679Val)
c.2338A>G (p.Ile780Val)
c.*793A>G (n.*793A>G)
c.*1780A>G (n.*1780A>G)
n.1702A>G
c.2287A>G (p.Ile763Val)
c.2446A>G (p.Ile816Val)
c.2049A>G
c.1628A>G
c.765A>G (p.Pro255=)
c.2143A>G (p.Ile715Val)
 dbSNP gnomAD v4
Xg.53985019T>GCA413252094PHF8c.2035A>C (p.Ile679Leu)
c.2338A>C (p.Ile780Leu)
c.*793A>C (n.*793A>C)
c.*1780A>C (n.*1780A>C)
n.1702A>C
c.2287A>C (p.Ile763Leu)
c.2446A>C (p.Ile816Leu)
c.2049A>C
c.1628A>C
c.765A>C (p.Pro255=)
c.2143A>C (p.Ile715Leu)
Xg.53985020G>ACA413252097PHF8c.2034C>T (p.Pro678=)
c.2337C>T (p.Pro779=)
c.*792C>T (n.*792C>T)
c.*1779C>T (n.*1779C>T)
n.1701C>T
c.2286C>T (p.Pro762=)
c.2445C>T (p.Pro815=)
c.2048C>T
c.1627C>T
c.764C>T (p.Pro255Leu)
c.2142C>T (p.Pro714=)
 gnomAD v4
Xg.53985020G>CCA413252099PHF8c.2034C>G (p.Pro678=)
c.2337C>G (p.Pro779=)
c.*792C>G (n.*792C>G)
c.*1779C>G (n.*1779C>G)
n.1701C>G
c.2286C>G (p.Pro762=)
c.2445C>G (p.Pro815=)
c.2048C>G
c.1627C>G
c.764C>G (p.Pro255Arg)
c.2142C>G (p.Pro714=)
Xg.53985020G>TCA413252101PHF8c.2034C>A (p.Pro678=)
c.2337C>A (p.Pro779=)
c.*792C>A (n.*792C>A)
c.*1779C>A (n.*1779C>A)
n.1701C>A
c.2286C>A (p.Pro762=)
c.2445C>A (p.Pro815=)
c.2048C>A
c.1627C>A
c.764C>A (p.Pro255Gln)
c.2142C>A (p.Pro714=)
Xg.53985021G>ACA413252104PHF8c.2033C>T (p.Pro678Leu)
c.2336C>T (p.Pro779Leu)
c.*791C>T (n.*791C>T)
c.*1778C>T (n.*1778C>T)
n.1700C>T
c.2285C>T (p.Pro762Leu)
c.2444C>T (p.Pro815Leu)
c.2047C>T
c.1626C>T
c.763C>T (p.Pro255Ser)
c.2141C>T (p.Pro714Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985021G>CCA413252107PHF8c.2033C>G (p.Pro678Arg)
c.2336C>G (p.Pro779Arg)
c.*791C>G (n.*791C>G)
c.*1778C>G (n.*1778C>G)
n.1700C>G
c.2285C>G (p.Pro762Arg)
c.2444C>G (p.Pro815Arg)
c.2047C>G
c.1626C>G
c.763C>G (p.Pro255Ala)
c.2141C>G (p.Pro714Arg)
Xg.53985021G=CA2430030670PHF8c.2033C= (p.Pro678=)
c.2336C= (p.Pro779=)
c.*791C= (n.*791C=)
c.*1778C= (n.*1778C=)
n.1700C=
c.2285C= (p.Pro762=)
c.2444C= (p.Pro815=)
c.2047C=
c.1626C=
c.763C= (p.Pro255=)
c.2141C= (p.Pro714=)
Xg.53985021G>TCA413252105PHF8c.2033C>A (p.Pro678His)
c.2336C>A (p.Pro779His)
c.*791C>A (n.*791C>A)
c.*1778C>A (n.*1778C>A)
n.1700C>A
c.2285C>A (p.Pro762His)
c.2444C>A (p.Pro815His)
c.2047C>A
c.1626C>A
c.763C>A (p.Pro255Thr)
c.2141C>A (p.Pro714His)
Xg.53985022G>ACA413252115PHF8c.2032C>T (p.Pro678Ser)
c.2335C>T (p.Pro779Ser)
c.*790C>T (n.*790C>T)
c.*1777C>T (n.*1777C>T)
n.1699C>T
c.2284C>T (p.Pro762Ser)
c.2443C>T (p.Pro815Ser)
c.2046C>T
c.1625C>T
c.762C>T (p.Gly254=)
c.2140C>T (p.Pro714Ser)
Xg.53985022G>CCA413252120PHF8c.2032C>G (p.Pro678Ala)
c.2335C>G (p.Pro779Ala)
c.*790C>G (n.*790C>G)
c.*1777C>G (n.*1777C>G)
n.1699C>G
c.2284C>G (p.Pro762Ala)
c.2443C>G (p.Pro815Ala)
c.2046C>G
c.1625C>G
c.762C>G (p.Gly254=)
c.2140C>G (p.Pro714Ala)
Xg.53985022G>TCA413252117PHF8c.2032C>A (p.Pro678Thr)
c.2335C>A (p.Pro779Thr)
c.*790C>A (n.*790C>A)
c.*1777C>A (n.*1777C>A)
n.1699C>A
c.2284C>A (p.Pro762Thr)
c.2443C>A (p.Pro815Thr)
c.2046C>A
c.1625C>A
c.762C>A (p.Gly254=)
c.2140C>A (p.Pro714Thr)
Xg.53985023C>ACA413252122PHF8c.2031G>T (p.Arg677=)
c.2334G>T (p.Arg778=)
c.*789G>T (n.*789G>T)
c.*1776G>T (n.*1776G>T)
n.1698G>T
c.2283G>T (p.Arg761=)
c.2442G>T (p.Arg814=)
c.2045G>T
c.1624G>T
c.761G>T (p.Gly254Val)
c.2139G>T (p.Arg713=)
Xg.53985023C=CA2430030671PHF8c.2031G= (p.Arg677=)
c.2334G= (p.Arg778=)
c.*789G= (n.*789G=)
c.*1776G= (n.*1776G=)
n.1698G=
c.2283G= (p.Arg761=)
c.2442G= (p.Arg814=)
c.2045G=
c.1624G=
c.761G= (p.Gly254=)
c.2139G= (p.Arg713=)
Xg.53985023C>GCA413252125PHF8c.2031G>C (p.Arg677=)
c.2334G>C (p.Arg778=)
c.*789G>C (n.*789G>C)
c.*1776G>C (n.*1776G>C)
n.1698G>C
c.2283G>C (p.Arg761=)
c.2442G>C (p.Arg814=)
c.2045G>C
c.1624G>C
c.761G>C (p.Gly254Ala)
c.2139G>C (p.Arg713=)
Xg.53985023C>TCA10423306PHF8c.2031G>A (p.Arg677=)
c.2334G>A (p.Arg778=)
c.*789G>A (n.*789G>A)
c.*1776G>A (n.*1776G>A)
n.1698G>A
c.2283G>A (p.Arg761=)
c.2442G>A (p.Arg814=)
c.2045G>A
c.1624G>A
c.761G>A (p.Gly254Asp)
c.2139G>A (p.Arg713=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985024C>ACA413252129PHF8c.2030G>T (p.Arg677Leu)
c.2333G>T (p.Arg778Leu)
c.*788G>T (n.*788G>T)
c.*1775G>T (n.*1775G>T)
n.1697G>T
c.2282G>T (p.Arg761Leu)
c.2441G>T (p.Arg814Leu)
c.2044G>T
c.1623G>T
c.760G>T (p.Gly254Cys)
c.2138G>T (p.Arg713Leu)
Xg.53985024C=CA2430030672PHF8c.2030G= (p.Arg677=)
c.2333G= (p.Arg778=)
c.*788G= (n.*788G=)
c.*1775G= (n.*1775G=)
n.1697G=
c.2282G= (p.Arg761=)
c.2441G= (p.Arg814=)
c.2044G=
c.1623G=
c.760G= (p.Gly254=)
c.2138G= (p.Arg713=)
Xg.53985024C>GCA413252131PHF8c.2030G>C (p.Arg677Pro)
c.2333G>C (p.Arg778Pro)
c.*788G>C (n.*788G>C)
c.*1775G>C (n.*1775G>C)
n.1697G>C
c.2282G>C (p.Arg761Pro)
c.2441G>C (p.Arg814Pro)
c.2044G>C
c.1623G>C
c.760G>C (p.Gly254Arg)
c.2138G>C (p.Arg713Pro)
Xg.53985024C>TCA10423307PHF8c.2030G>A (p.Arg677Gln)
c.2333G>A (p.Arg778Gln)
c.*788G>A (n.*788G>A)
c.*1775G>A (n.*1775G>A)
n.1697G>A
c.2282G>A (p.Arg761Gln)
c.2441G>A (p.Arg814Gln)
c.2044G>A
c.1623G>A
c.760G>A (p.Gly254Ser)
c.2138G>A (p.Arg713Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.53985025G>ACA329924348PHF8c.2029C>T (p.Arg677Trp)
c.2332C>T (p.Arg778Trp)
c.*787C>T (n.*787C>T)
c.*1774C>T (n.*1774C>T)
n.1696C>T
c.2281C>T (p.Arg761Trp)
c.2440C>T (p.Arg814Trp)
c.2043C>T
c.1622C>T
c.759C>T (p.Ser253=)
c.2137C>T (p.Arg713Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.53985025G>CCA413252137PHF8c.2029C>G (p.Arg677Gly)
c.2332C>G (p.Arg778Gly)
c.*787C>G (n.*787C>G)
c.*1774C>G (n.*1774C>G)
n.1696C>G
c.2281C>G (p.Arg761Gly)
c.2440C>G (p.Arg814Gly)
c.2043C>G
c.1622C>G
c.759C>G (p.Ser253Arg)
c.2137C>G (p.Arg713Gly)
Xg.53985025G=CA2430030673PHF8c.2029C= (p.Arg677=)
c.2332C= (p.Arg778=)
c.*787C= (n.*787C=)
c.*1774C= (n.*1774C=)
n.1696C=
c.2281C= (p.Arg761=)
c.2440C= (p.Arg814=)
c.2043C=
c.1622C=
c.759C= (p.Ser253=)
c.2137C= (p.Arg713=)
Xg.53985025G>TCA413252140PHF8c.2029C>A (p.Arg677=)
c.2332C>A (p.Arg778=)
c.*787C>A (n.*787C>A)
c.*1774C>A (n.*1774C>A)
n.1696C>A
c.2281C>A (p.Arg761=)
c.2440C>A (p.Arg814=)
c.2043C>A
c.1622C>A
c.759C>A (p.Ser253Arg)
c.2137C>A (p.Arg713=)
Xg.53985026C>ACA413252143PHF8c.2028G>T (p.Lys676Asn)
c.2331G>T (p.Lys777Asn)
c.*786G>T (n.*786G>T)
c.*1773G>T (n.*1773G>T)
n.1695G>T
c.2280G>T (p.Lys760Asn)
c.2439G>T (p.Lys813Asn)
c.2042G>T
c.1621G>T
c.758G>T (p.Ser253Ile)
c.2136G>T (p.Lys712Asn)
Xg.53985026C>GCA413252146PHF8c.2028G>C (p.Lys676Asn)
c.2331G>C (p.Lys777Asn)
c.*786G>C (n.*786G>C)
c.*1773G>C (n.*1773G>C)
n.1695G>C
c.2280G>C (p.Lys760Asn)
c.2439G>C (p.Lys813Asn)
c.2042G>C
c.1621G>C
c.758G>C (p.Ser253Thr)
c.2136G>C (p.Lys712Asn)
Xg.53985026C>TCA413252148PHF8c.2028G>A (p.Lys676=)
c.2331G>A (p.Lys777=)
c.*786G>A (n.*786G>A)
c.*1773G>A (n.*1773G>A)
n.1695G>A
c.2280G>A (p.Lys760=)
c.2439G>A (p.Lys813=)
c.2042G>A
c.1621G>A
c.758G>A (p.Ser253Asn)
c.2136G>A (p.Lys712=)
 gnomAD v4
Xg.53985027T>ACA413252149PHF8c.2027A>T (p.Lys676Met)
c.2330A>T (p.Lys777Met)
c.*785A>T (n.*785A>T)
c.*1772A>T (n.*1772A>T)
n.1694A>T
c.2279A>T (p.Lys760Met)
c.2438A>T (p.Lys813Met)
c.2041A>T
c.1620A>T
c.757A>T (p.Ser253Cys)
c.2135A>T (p.Lys712Met)
Xg.53985027T>CCA413252150PHF8c.2027A>G (p.Lys676Arg)
c.2330A>G (p.Lys777Arg)
c.*785A>G (n.*785A>G)
c.*1772A>G (n.*1772A>G)
n.1694A>G
c.2279A>G (p.Lys760Arg)
c.2438A>G (p.Lys813Arg)
c.2041A>G
c.1620A>G
c.757A>G (p.Ser253Gly)
c.2135A>G (p.Lys712Arg)
Xg.53985027T>GCA413252151PHF8c.2027A>C (p.Lys676Thr)
c.2330A>C (p.Lys777Thr)
c.*785A>C (n.*785A>C)
c.*1772A>C (n.*1772A>C)
n.1694A>C
c.2279A>C (p.Lys760Thr)
c.2438A>C (p.Lys813Thr)
c.2041A>C
c.1620A>C
c.757A>C (p.Ser253Arg)
c.2135A>C (p.Lys712Thr)
Xg.53985028T>ACA413252157PHF8c.2026A>T (p.Lys676Ter)
c.2329A>T (p.Lys777Ter)
c.*784A>T (n.*784A>T)
c.*1771A>T (n.*1771A>T)
n.1693A>T
c.2278A>T (p.Lys760Ter)
c.2437A>T (p.Lys813Ter)
c.2040A>T
c.1619A>T
c.756A>T (p.Gly252=)
c.2134A>T (p.Lys712Ter)
Xg.53985028T>CCA413252153PHF8c.2026A>G (p.Lys676Glu)
c.2329A>G (p.Lys777Glu)
c.*784A>G (n.*784A>G)
c.*1771A>G (n.*1771A>G)
n.1693A>G
c.2278A>G (p.Lys760Glu)
c.2437A>G (p.Lys813Glu)
c.2040A>G
c.1619A>G
c.756A>G (p.Gly252=)
c.2134A>G (p.Lys712Glu)
Xg.53985028T>GCA413252155PHF8c.2026A>C (p.Lys676Gln)
c.2329A>C (p.Lys777Gln)
c.*784A>C (n.*784A>C)
c.*1771A>C (n.*1771A>C)
n.1693A>C
c.2278A>C (p.Lys760Gln)
c.2437A>C (p.Lys813Gln)
c.2040A>C
c.1619A>C
c.756A>C (p.Gly252=)
c.2134A>C (p.Lys712Gln)
Xg.53985029C>ACA413252160PHF8c.2025G>T (p.Gly675=)
c.2328G>T (p.Gly776=)
c.*783G>T (n.*783G>T)
c.*1770G>T (n.*1770G>T)
n.1692G>T
c.2277G>T (p.Gly759=)
c.2436G>T (p.Gly812=)
c.2039G>T
c.1618G>T
c.755G>T (p.Gly252Val)
c.2133G>T (p.Gly711=)
Xg.53985029C>GCA413252162PHF8c.2025G>C (p.Gly675=)
c.2328G>C (p.Gly776=)
c.*783G>C (n.*783G>C)
c.*1770G>C (n.*1770G>C)
n.1692G>C
c.2277G>C (p.Gly759=)
c.2436G>C (p.Gly812=)
c.2039G>C
c.1618G>C
c.755G>C (p.Gly252Ala)
c.2133G>C (p.Gly711=)
Xg.53985029C>TCA413252165PHF8c.2025G>A (p.Gly675=)
c.2328G>A (p.Gly776=)
c.*783G>A (n.*783G>A)
c.*1770G>A (n.*1770G>A)
n.1692G>A
c.2277G>A (p.Gly759=)
c.2436G>A (p.Gly812=)
c.2039G>A
c.1618G>A
c.755G>A (p.Gly252Glu)
c.2133G>A (p.Gly711=)
Xg.53985030C>ACA413252168PHF8c.2024G>T (p.Gly675Val)
c.2327G>T (p.Gly776Val)
c.*782G>T (n.*782G>T)
c.*1769G>T (n.*1769G>T)
n.1691G>T
c.2276G>T (p.Gly759Val)
c.2435G>T (p.Gly812Val)
c.2038G>T
c.1617G>T
c.754G>T (p.Gly252Ter)
c.2132G>T (p.Gly711Val)
Xg.53985030C>GCA413252170PHF8c.2024G>C (p.Gly675Ala)
c.2327G>C (p.Gly776Ala)
c.*782G>C (n.*782G>C)
c.*1769G>C (n.*1769G>C)
n.1691G>C
c.2276G>C (p.Gly759Ala)
c.2435G>C (p.Gly812Ala)
c.2038G>C
c.1617G>C
c.754G>C (p.Gly252Arg)
c.2132G>C (p.Gly711Ala)
Xg.53985030C>TCA413252172PHF8c.2024G>A (p.Gly675Glu)
c.2327G>A (p.Gly776Glu)
c.*782G>A (n.*782G>A)
c.*1769G>A (n.*1769G>A)
n.1691G>A
c.2276G>A (p.Gly759Glu)
c.2435G>A (p.Gly812Glu)
c.2038G>A
c.1617G>A
c.754G>A (p.Gly252Arg)
c.2132G>A (p.Gly711Glu)
 gnomAD v4
Xg.53985031C>ACA413252175PHF8c.2023G>T (p.Gly675Trp)
c.2326G>T (p.Gly776Trp)
c.*781G>T (n.*781G>T)
c.*1768G>T (n.*1768G>T)
n.1690G>T
c.2275G>T (p.Gly759Trp)
c.2434G>T (p.Gly812Trp)
c.2037G>T
c.1616G>T
c.753G>T (p.Gln251His)
c.2131G>T (p.Gly711Trp)
Xg.53985031C>GCA413252176PHF8c.2023G>C (p.Gly675Arg)
c.2326G>C (p.Gly776Arg)
c.*781G>C (n.*781G>C)
c.*1768G>C (n.*1768G>C)
n.1690G>C
c.2275G>C (p.Gly759Arg)
c.2434G>C (p.Gly812Arg)
c.2037G>C
c.1616G>C
c.753G>C (p.Gln251His)
c.2131G>C (p.Gly711Arg)
Xg.53985031C>TCA413252183PHF8c.2023G>A (p.Gly675Arg)
c.2326G>A (p.Gly776Arg)
c.*781G>A (n.*781G>A)
c.*1768G>A (n.*1768G>A)
n.1690G>A
c.2275G>A (p.Gly759Arg)
c.2434G>A (p.Gly812Arg)
c.2037G>A
c.1616G>A
c.753G>A (p.Gln251=)
c.2131G>A (p.Gly711Arg)
Xg.53985032T>ACA413252186PHF8c.2022A>T (p.Pro674=)
c.2325A>T (p.Pro775=)
c.*780A>T (n.*780A>T)
c.*1767A>T (n.*1767A>T)
n.1689A>T
c.2274A>T (p.Pro758=)
c.2433A>T (p.Pro811=)
c.2036A>T
c.1615A>T
c.752A>T (p.Gln251Leu)
c.2130A>T (p.Pro710=)
Xg.53985032T>CCA413252188PHF8c.2022A>G (p.Pro674=)
c.2325A>G (p.Pro775=)
c.*780A>G (n.*780A>G)
c.*1767A>G (n.*1767A>G)
n.1689A>G
c.2274A>G (p.Pro758=)
c.2433A>G (p.Pro811=)
c.2036A>G
c.1615A>G
c.752A>G (p.Gln251Arg)
c.2130A>G (p.Pro710=)
 gnomAD v4
Xg.53985032T>GCA413252190PHF8c.2022A>C (p.Pro674=)
c.2325A>C (p.Pro775=)
c.*780A>C (n.*780A>C)
c.*1767A>C (n.*1767A>C)
n.1689A>C
c.2274A>C (p.Pro758=)
c.2433A>C (p.Pro811=)
c.2036A>C
c.1615A>C
c.752A>C (p.Gln251Pro)
c.2130A>C (p.Pro710=)
Xg.53985033G>ACA413252195PHF8c.2021C>T (p.Pro674Leu)
c.2324C>T (p.Pro775Leu)
c.*779C>T (n.*779C>T)
c.*1766C>T (n.*1766C>T)
n.1688C>T
c.2273C>T (p.Pro758Leu)
c.2432C>T (p.Pro811Leu)
c.2035C>T
c.1614C>T
c.751C>T (p.Gln251Ter)
c.2129C>T (p.Pro710Leu)
Xg.53985033G>CCA413252194PHF8c.2021C>G (p.Pro674Arg)
c.2324C>G (p.Pro775Arg)
c.*779C>G (n.*779C>G)
c.*1766C>G (n.*1766C>G)
n.1688C>G
c.2273C>G (p.Pro758Arg)
c.2432C>G (p.Pro811Arg)
c.2035C>G
c.1614C>G
c.751C>G (p.Gln251Glu)
c.2129C>G (p.Pro710Arg)
 gnomAD v4
Xg.53985033G>TCA413252193PHF8c.2021C>A (p.Pro674Gln)
c.2324C>A (p.Pro775Gln)
c.*779C>A (n.*779C>A)
c.*1766C>A (n.*1766C>A)
n.1688C>A
c.2273C>A (p.Pro758Gln)
c.2432C>A (p.Pro811Gln)
c.2035C>A
c.1614C>A
c.751C>A (p.Gln251Lys)
c.2129C>A (p.Pro710Gln)
Xg.53985033_53985039delinsGGGGTGCCA2430030674PHF8c.2015_2021delinsGCACCCC (p.Arg672=)
c.2318_2324delinsGCACCCC (p.Arg773=)
c.*773_*779delinsGCACCCC (n.*773_*779delinsGCACCCC)
c.*1760_*1766delinsGCACCCC (n.*1760_*1766delinsGCACCCC)
n.1682_1688delinsGCACCCC
c.2267_2273delinsGCACCCC (p.Arg756=)
c.2426_2432delinsGCACCCC (p.Arg809=)
c.2029_2035delinsGCACCCC
c.1608_1614delinsGCACCCC
c.745_751delinsGCACCCC (p.Ala249=)
c.2123_2129delinsGCACCCC (p.Arg708=)
Xg.53985034G>ACA413252209PHF8c.2020C>T (p.Pro674Ser)
c.2323C>T (p.Pro775Ser)
c.*778C>T (n.*778C>T)
c.*1765C>T (n.*1765C>T)
n.1687C>T
c.2272C>T (p.Pro758Ser)
c.2431C>T (p.Pro811Ser)
c.2034C>T
c.1613C>T
c.750C>T (p.Pro250=)
c.2128C>T (p.Pro710Ser)
 gnomAD v4
Xg.53985034G>CCA413252198PHF8c.2020C>G (p.Pro674Ala)
c.2323C>G (p.Pro775Ala)
c.*778C>G (n.*778C>G)
c.*1765C>G (n.*1765C>G)
n.1687C>G
c.2272C>G (p.Pro758Ala)
c.2431C>G (p.Pro811Ala)
c.2034C>G
c.1613C>G
c.750C>G (p.Pro250=)
c.2128C>G (p.Pro710Ala)
Xg.53985034G=CA2430030676PHF8c.2020C= (p.Pro674=)
c.2323C= (p.Pro775=)
c.*778C= (n.*778C=)
c.*1765C= (n.*1765C=)
n.1687C=
c.2272C= (p.Pro758=)
c.2431C= (p.Pro811=)
c.2034C=
c.1613C=
c.750C= (p.Pro250=)
c.2128C= (p.Pro710=)
Xg.53985034G>TCA413252203PHF8c.2020C>A (p.Pro674Thr)
c.2323C>A (p.Pro775Thr)
c.*778C>A (n.*778C>A)
c.*1765C>A (n.*1765C>A)
n.1687C>A
c.2272C>A (p.Pro758Thr)
c.2431C>A (p.Pro811Thr)
c.2034C>A
c.1613C>A
c.750C>A (p.Pro250=)
c.2128C>A (p.Pro710Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.53985035_53985040delCA2430030675PHF8c.2015_2020del (p.Arg672_Thr673del)
c.2318_2323del (p.Arg773_Thr774del)
c.*773_*778del (n.*773_*778del)
c.*1760_*1765del (n.*1760_*1765del)
n.1682_1687del
c.2267_2272del (p.Arg756_Thr757del)
c.2426_2431del (p.Arg809_Thr810del)
c.2029_2034del
c.1608_1613del
c.745_750del (p.Ala249_Pro250del)
c.2123_2128del (p.Arg708_Thr709del)
 dbSNP
Xg.53985035G>ACA329924349PHF8c.2019C>T (p.Thr673=)
c.2322C>T (p.Thr774=)
c.*777C>T (n.*777C>T)
c.*1764C>T (n.*1764C>T)
n.1686C>T
c.2271C>T (p.Thr757=)
c.2430C>T (p.Thr810=)
c.2033C>T
c.1612C>T
c.749C>T (p.Pro250Leu)
c.2127C>T (p.Thr709=)
 dbSNP gnomAD v3 gnomAD v4
Xg.53985035G>CCA413252216PHF8c.2019C>G (p.Thr673=)
c.2322C>G (p.Thr774=)
c.*777C>G (n.*777C>G)
c.*1764C>G (n.*1764C>G)
n.1686C>G
c.2271C>G (p.Thr757=)
c.2430C>G (p.Thr810=)
c.2033C>G
c.1612C>G
c.749C>G (p.Pro250Arg)
c.2127C>G (p.Thr709=)
Xg.53985035G=CA2430030677PHF8c.2019C= (p.Thr673=)
c.2322C= (p.Thr774=)
c.*777C= (n.*777C=)
c.*1764C= (n.*1764C=)
n.1686C=
c.2271C= (p.Thr757=)
c.2430C= (p.Thr810=)
c.2033C=
c.1612C=
c.749C= (p.Pro250=)
c.2127C= (p.Thr709=)
Xg.53985035G>TCA413252218PHF8c.2019C>A (p.Thr673=)
c.2322C>A (p.Thr774=)
c.*777C>A (n.*777C>A)
c.*1764C>A (n.*1764C>A)
n.1686C>A
c.2271C>A (p.Thr757=)
c.2430C>A (p.Thr810=)
c.2033C>A
c.1612C>A
c.749C>A (p.Pro250His)
c.2127C>A (p.Thr709=)
Xg.53985036G>ACA413252223PHF8c.2018C>T (p.Thr673Ile)
c.2321C>T (p.Thr774Ile)
c.*776C>T (n.*776C>T)
c.*1763C>T (n.*1763C>T)
n.1685C>T
c.2270C>T (p.Thr757Ile)
c.2429C>T (p.Thr810Ile)
c.2032C>T
c.1611C>T
c.748C>T (p.Pro250Ser)
c.2126C>T (p.Thr709Ile)
Xg.53985036G>CCA413252221PHF8c.2018C>G (p.Thr673Ser)
c.2321C>G (p.Thr774Ser)
c.*776C>G (n.*776C>G)
c.*1763C>G (n.*1763C>G)
n.1685C>G
c.2270C>G (p.Thr757Ser)
c.2429C>G (p.Thr810Ser)
c.2032C>G
c.1611C>G
c.748C>G (p.Pro250Ala)
c.2126C>G (p.Thr709Ser)
Xg.53985036G>TCA413252219PHF8c.2018C>A (p.Thr673Asn)
c.2321C>A (p.Thr774Asn)
c.*776C>A (n.*776C>A)
c.*1763C>A (n.*1763C>A)
n.1685C>A
c.2270C>A (p.Thr757Asn)
c.2429C>A (p.Thr810Asn)
c.2032C>A
c.1611C>A
c.748C>A (p.Pro250Thr)
c.2126C>A (p.Thr709Asn)
 gnomAD v4
Xg.53985037T>ACA413252227PHF8c.2017A>T (p.Thr673Ser)
c.2320A>T (p.Thr774Ser)
c.*775A>T (n.*775A>T)
c.*1762A>T (n.*1762A>T)
n.1684A>T
c.2269A>T (p.Thr757Ser)
c.2428A>T (p.Thr810Ser)
c.2031A>T
c.1610A>T
c.747A>T (p.Ala249=)
c.2125A>T (p.Thr709Ser)
 dbSNP
Xg.53985037T>CCA413252228PHF8c.2017A>G (p.Thr673Ala)
c.2320A>G (p.Thr774Ala)
c.*775A>G (n.*775A>G)
c.*1762A>G (n.*1762A>G)
n.1684A>G
c.2269A>G (p.Thr757Ala)
c.2428A>G (p.Thr810Ala)
c.2031A>G
c.1610A>G
c.747A>G (p.Ala249=)
c.2125A>G (p.Thr709Ala)
Xg.53985037T>GCA413252231PHF8c.2017A>C (p.Thr673Pro)
c.2320A>C (p.Thr774Pro)
c.*775A>C (n.*775A>C)
c.*1762A>C (n.*1762A>C)
n.1684A>C
c.2269A>C (p.Thr757Pro)
c.2428A>C (p.Thr810Pro)
c.2031A>C
c.1610A>C
c.747A>C (p.Ala249=)
c.2125A>C (p.Thr709Pro)
Xg.53985038G>ACA413252234PHF8c.2016C>T (p.Arg672=)
c.2319C>T (p.Arg773=)
c.*774C>T (n.*774C>T)
c.*1761C>T (n.*1761C>T)
n.1683C>T
c.2268C>T (p.Arg756=)
c.2427C>T (p.Arg809=)
c.2030C>T
c.1609C>T
c.746C>T (p.Ala249Val)
c.2124C>T (p.Arg708=)
Xg.53985038G>CCA413252235PHF8c.2016C>G (p.Arg672=)
c.2319C>G (p.Arg773=)
c.*774C>G (n.*774C>G)
c.*1761C>G (n.*1761C>G)
n.1683C>G
c.2268C>G (p.Arg756=)
c.2427C>G (p.Arg809=)
c.2030C>G
c.1609C>G
c.746C>G (p.Ala249Gly)
c.2124C>G (p.Arg708=)
Xg.53985038G>TCA413252236PHF8c.2016C>A (p.Arg672=)
c.2319C>A (p.Arg773=)
c.*774C>A (n.*774C>A)
c.*1761C>A (n.*1761C>A)
n.1683C>A
c.2268C>A (p.Arg756=)
c.2427C>A (p.Arg809=)
c.2030C>A
c.1609C>A
c.746C>A (p.Ala249Glu)
c.2124C>A (p.Arg708=)

Number of alleles fetched