Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.91313568G>A | CA487829918 | CCDC88C | c.2248C>T (p.Leu750=) c.2140C>T (p.Leu714=) n.2376C>T n.2374C>T | |
14 | g.91313568G>C | CA390630754 | CCDC88C | c.2248C>G (p.Leu750Val) c.2140C>G (p.Leu714Val) n.2376C>G n.2374C>G | |
14 | g.91313568G>T | CA390630756 | CCDC88C | c.2248C>A (p.Leu750Met) c.2140C>A (p.Leu714Met) n.2376C>A n.2374C>A | gnomAD v4 |
14 | g.91313569C>A | CA487829919 | CCDC88C | c.2247G>T (p.Ala749=) c.2139G>T (p.Ala713=) n.2375G>T n.2373G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313569C= | CA2154879061 | CCDC88C | c.2247G= (p.Ala749=) c.2139G= (p.Ala713=) n.2375G= n.2373G= | |
14 | g.91313569C>G | CA487829920 | CCDC88C | c.2247G>C (p.Ala749=) c.2139G>C (p.Ala713=) n.2375G>C n.2373G>C | |
14 | g.91313569C>T | CA7309707 | CCDC88C | c.2247G>A (p.Ala749=) c.2139G>A (p.Ala713=) n.2375G>A n.2373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313570G>A | CA7309708 | CCDC88C | c.2246C>T (p.Ala749Val) c.2138C>T (p.Ala713Val) n.2374C>T n.2372C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313570G>C | CA7309709 | CCDC88C | c.2246C>G (p.Ala749Gly) c.2138C>G (p.Ala713Gly) n.2374C>G n.2372C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313570G= | CA2154879063 | CCDC88C | c.2246C= (p.Ala749=) c.2138C= (p.Ala713=) n.2374C= n.2372C= | |
14 | g.91313570G>T | CA390630761 | CCDC88C | c.2246C>A (p.Ala749Glu) c.2138C>A (p.Ala713Glu) n.2374C>A n.2372C>A | gnomAD v4 |
14 | g.91313571C>A | CA390630763 | CCDC88C | c.2245G>T (p.Ala749Ser) c.2137G>T (p.Ala713Ser) n.2373G>T n.2371G>T | |
14 | g.91313571C>G | CA390630765 | CCDC88C | c.2245G>C (p.Ala749Pro) c.2137G>C (p.Ala713Pro) n.2373G>C n.2371G>C | |
14 | g.91313571C>T | CA390630767 | CCDC88C | c.2245G>A (p.Ala749Thr) c.2137G>A (p.Ala713Thr) n.2373G>A n.2371G>A | |
14 | g.91313572C>A | CA390630769 | CCDC88C | c.2244G>T (p.Lys748Asn) c.2136G>T (p.Lys712Asn) n.2372G>T n.2370G>T | |
14 | g.91313572C= | CA2154879066 | CCDC88C | c.2244G= (p.Lys748=) c.2136G= (p.Lys712=) n.2372G= n.2370G= | |
14 | g.91313572C>G | CA390630770 | CCDC88C | c.2244G>C (p.Lys748Asn) c.2136G>C (p.Lys712Asn) n.2372G>C n.2370G>C | |
14 | g.91313572C>T | CA487829921 | CCDC88C | c.2244G>A (p.Lys748=) c.2136G>A (p.Lys712=) n.2372G>A n.2370G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313573T>A | CA390630771 | CCDC88C | c.2243A>T (p.Lys748Met) c.2135A>T (p.Lys712Met) n.2371A>T n.2369A>T | |
14 | g.91313573T>C | CA390630773 | CCDC88C | c.2243A>G (p.Lys748Arg) c.2135A>G (p.Lys712Arg) n.2371A>G n.2369A>G | |
14 | g.91313573T>G | CA390630774 | CCDC88C | c.2243A>C (p.Lys748Thr) c.2135A>C (p.Lys712Thr) n.2371A>C n.2369A>C | |
14 | g.91313574T>A | CA390630777 | CCDC88C | c.2242A>T (p.Lys748Ter) c.2134A>T (p.Lys712Ter) n.2370A>T n.2368A>T | |
14 | g.91313574T>C | CA390630778 | CCDC88C | c.2242A>G (p.Lys748Glu) c.2134A>G (p.Lys712Glu) n.2370A>G n.2368A>G | gnomAD v4 |
14 | g.91313574T>G | CA390630780 | CCDC88C | c.2242A>C (p.Lys748Gln) c.2134A>C (p.Lys712Gln) n.2370A>C n.2368A>C | gnomAD v4 |
14 | g.91313575G>A | CA487829922 | CCDC88C | c.2241C>T (p.Leu747=) c.2133C>T (p.Leu711=) n.2369C>T n.2367C>T | |
14 | g.91313575G>C | CA265570052 | CCDC88C | c.2241C>G (p.Leu747=) c.2133C>G (p.Leu711=) n.2369C>G n.2367C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313575G= | CA2154879068 | CCDC88C | c.2241C= (p.Leu747=) c.2133C= (p.Leu711=) n.2369C= n.2367C= | |
14 | g.91313575G>T | CA487829923 | CCDC88C | c.2241C>A (p.Leu747=) c.2133C>A (p.Leu711=) n.2369C>A n.2367C>A | gnomAD v4 |
14 | g.91313576A= | CA2154879070 | CCDC88C | c.2240T= (p.Leu747=) c.2132T= (p.Leu711=) n.2368T= n.2366T= | |
14 | g.91313576A>C | CA390630782 | CCDC88C | c.2240T>G (p.Leu747Arg) c.2132T>G (p.Leu711Arg) n.2368T>G n.2366T>G | |
14 | g.91313576A>G | CA390630783 | CCDC88C | c.2240T>C (p.Leu747Pro) c.2132T>C (p.Leu711Pro) n.2368T>C n.2366T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313576A>T | CA390630785 | CCDC88C | c.2240T>A (p.Leu747His) c.2132T>A (p.Leu711His) n.2368T>A n.2366T>A | |
14 | g.91313577G>A | CA390630792 | CCDC88C | c.2239C>T (p.Leu747Phe) c.2131C>T (p.Leu711Phe) n.2367C>T n.2365C>T | |
14 | g.91313577G>C | CA390630790 | CCDC88C | c.2239C>G (p.Leu747Val) c.2131C>G (p.Leu711Val) n.2367C>G n.2365C>G | |
14 | g.91313577G>T | CA390630788 | CCDC88C | c.2239C>A (p.Leu747Ile) c.2131C>A (p.Leu711Ile) n.2367C>A n.2365C>A | |
14 | g.91313578C>A | CA487829924 | CCDC88C | c.2238G>T (p.Leu746=) c.2130G>T (p.Leu710=) n.2366G>T n.2364G>T | gnomAD v4 |
14 | g.91313578C= | CA2154879072 | CCDC88C | c.2238G= (p.Leu746=) c.2130G= (p.Leu710=) n.2366G= n.2364G= | |
14 | g.91313578C>G | CA487829925 | CCDC88C | c.2238G>C (p.Leu746=) c.2130G>C (p.Leu710=) n.2366G>C n.2364G>C | |
14 | g.91313578C>T | CA7309710 | CCDC88C | c.2238G>A (p.Leu746=) c.2130G>A (p.Leu710=) n.2366G>A n.2364G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313579A>C | CA390630793 | CCDC88C | c.2237T>G (p.Leu746Arg) c.2129T>G (p.Leu710Arg) n.2365T>G n.2363T>G | |
14 | g.91313579A>G | CA390630794 | CCDC88C | c.2237T>C (p.Leu746Pro) c.2129T>C (p.Leu710Pro) n.2365T>C n.2363T>C | |
14 | g.91313579A>T | CA390630796 | CCDC88C | c.2237T>A (p.Leu746Gln) c.2129T>A (p.Leu710Gln) n.2365T>A n.2363T>A | |
14 | g.91313580G>A | CA487829926 | CCDC88C | c.2236C>T (p.Leu746=) c.2128C>T (p.Leu710=) n.2364C>T n.2362C>T | |
14 | g.91313580G>C | CA390630799 | CCDC88C | c.2236C>G (p.Leu746Val) c.2128C>G (p.Leu710Val) n.2364C>G n.2362C>G | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313580G= | CA2154879075 | CCDC88C | c.2236C= (p.Leu746=) c.2128C= (p.Leu710=) n.2364C= n.2362C= | |
14 | g.91313580G>T | CA390630800 | CCDC88C | c.2236C>A (p.Leu746Met) c.2128C>A (p.Leu710Met) n.2364C>A n.2362C>A | gnomAD v4 |
14 | g.91313581A>C | CA390630802 | CCDC88C | c.2235T>G (p.Asp745Glu) c.2127T>G (p.Asp709Glu) n.2363T>G n.2361T>G | |
14 | g.91313581A>G | CA487829927 | CCDC88C | c.2235T>C (p.Asp745=) c.2127T>C (p.Asp709=) n.2363T>C n.2361T>C | |
14 | g.91313581A>T | CA390630804 | CCDC88C | c.2235T>A (p.Asp745Glu) c.2127T>A (p.Asp709Glu) n.2363T>A n.2361T>A | |
14 | g.91313582T>A | CA390630806 | CCDC88C | c.2234A>T (p.Asp745Val) c.2126A>T (p.Asp709Val) n.2362A>T n.2360A>T | |
14 | g.91313582T>C | CA390630807 | CCDC88C | c.2234A>G (p.Asp745Gly) c.2126A>G (p.Asp709Gly) n.2362A>G n.2360A>G | |
14 | g.91313582T>G | CA390630808 | CCDC88C | c.2234A>C (p.Asp745Ala) c.2126A>C (p.Asp709Ala) n.2362A>C n.2360A>C | |
14 | g.91313583C>A | CA390630810 | CCDC88C | c.2233G>T (p.Asp745Tyr) c.2125G>T (p.Asp709Tyr) n.2361G>T n.2359G>T | gnomAD v4 |
14 | g.91313583C= | CA2154879077 | CCDC88C | c.2233G= (p.Asp745=) c.2125G= (p.Asp709=) n.2361G= n.2359G= | |
14 | g.91313583C>G | CA390630812 | CCDC88C | c.2233G>C (p.Asp745His) c.2125G>C (p.Asp709His) n.2361G>C n.2359G>C | |
14 | g.91313583C>T | CA390630814 | CCDC88C | c.2233G>A (p.Asp745Asn) c.2125G>A (p.Asp709Asn) n.2361G>A n.2359G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313584C>A | CA487829928 | CCDC88C | c.2232G>T (p.Val744=) c.2124G>T (p.Val708=) n.2360G>T n.2358G>T | gnomAD v4 |
14 | g.91313584C>G | CA487829929 | CCDC88C | c.2232G>C (p.Val744=) c.2124G>C (p.Val708=) n.2360G>C n.2358G>C | |
14 | g.91313584C>T | CA487829930 | CCDC88C | c.2232G>A (p.Val744=) c.2124G>A (p.Val708=) n.2360G>A n.2358G>A | gnomAD v4 |
14 | g.91313585A>C | CA390630818 | CCDC88C | c.2231T>G (p.Val744Gly) c.2123T>G (p.Val708Gly) n.2359T>G n.2357T>G | gnomAD v4 |
14 | g.91313585A>G | CA390630820 | CCDC88C | c.2231T>C (p.Val744Ala) c.2123T>C (p.Val708Ala) n.2359T>C n.2357T>C | |
14 | g.91313585A>T | CA390630816 | CCDC88C | c.2231T>A (p.Val744Glu) c.2123T>A (p.Val708Glu) n.2359T>A n.2357T>A | |
14 | g.91313586C>A | CA265570053 | CCDC88C | c.2230G>T (p.Val744Leu) c.2122G>T (p.Val708Leu) n.2358G>T n.2356G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313586C= | CA2154879081 | CCDC88C | c.2230G= (p.Val744=) c.2122G= (p.Val708=) n.2358G= n.2356G= | |
14 | g.91313586C>G | CA390630823 | CCDC88C | c.2230G>C (p.Val744Leu) c.2122G>C (p.Val708Leu) n.2358G>C n.2356G>C | dbSNP gnomAD v4 |
14 | g.91313586C>T | CA390630824 | CCDC88C | c.2230G>A (p.Val744Met) c.2122G>A (p.Val708Met) n.2358G>A n.2356G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313587G>A | CA7309711 | CCDC88C | c.2229C>T (p.Asn743=) c.2121C>T (p.Asn707=) n.2357C>T n.2355C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313587G>C | CA390630827 | CCDC88C | c.2229C>G (p.Asn743Lys) c.2121C>G (p.Asn707Lys) n.2357C>G n.2355C>G | |
14 | g.91313587G= | CA2154879086 | CCDC88C | c.2229C= (p.Asn743=) c.2121C= (p.Asn707=) n.2357C= n.2355C= | |
14 | g.91313587G>T | CA390630829 | CCDC88C | c.2229C>A (p.Asn743Lys) c.2121C>A (p.Asn707Lys) n.2357C>A n.2355C>A | gnomAD v4 |
14 | g.91313588T>A | CA390630835 | CCDC88C | c.2228A>T (p.Asn743Ile) c.2120A>T (p.Asn707Ile) n.2356A>T n.2354A>T | |
14 | g.91313588T>C | CA390630832 | CCDC88C | c.2228A>G (p.Asn743Ser) c.2120A>G (p.Asn707Ser) n.2356A>G n.2354A>G | |
14 | g.91313588T>G | CA390630834 | CCDC88C | c.2228A>C (p.Asn743Thr) c.2120A>C (p.Asn707Thr) n.2356A>C n.2354A>C | |
14 | g.91313589T>A | CA390630838 | CCDC88C | c.2227A>T (p.Asn743Tyr) c.2119A>T (p.Asn707Tyr) n.2355A>T n.2353A>T | gnomAD v4 |
14 | g.91313589T>C | CA390630841 | CCDC88C | c.2227A>G (p.Asn743Asp) c.2119A>G (p.Asn707Asp) n.2355A>G n.2353A>G | |
14 | g.91313589T>G | CA390630843 | CCDC88C | c.2227A>C (p.Asn743His) c.2119A>C (p.Asn707His) n.2355A>C n.2353A>C | |
14 | g.91313590C>A | CA390630845 | CCDC88C | c.2226G>T (p.Lys742Asn) c.2118G>T (p.Lys706Asn) n.2354G>T n.2352G>T | |
14 | g.91313590C>G | CA390630847 | CCDC88C | c.2226G>C (p.Lys742Asn) c.2118G>C (p.Lys706Asn) n.2354G>C n.2352G>C | |
14 | g.91313590C>T | CA487829931 | CCDC88C | c.2226G>A (p.Lys742=) c.2118G>A (p.Lys706=) n.2354G>A n.2352G>A | gnomAD v4 |
14 | g.91313591T>A | CA390630852 | CCDC88C | c.2225A>T (p.Lys742Met) c.2117A>T (p.Lys706Met) n.2353A>T n.2351A>T | |
14 | g.91313591T>C | CA390630856 | CCDC88C | c.2225A>G (p.Lys742Arg) c.2117A>G (p.Lys706Arg) n.2353A>G n.2351A>G | dbSNP |
14 | g.91313591T>G | CA390630854 | CCDC88C | c.2225A>C (p.Lys742Thr) c.2117A>C (p.Lys706Thr) n.2353A>C n.2351A>C | |
14 | g.91313591T= | CA2154879088 | CCDC88C | c.2225A= (p.Lys742=) c.2117A= (p.Lys706=) n.2353A= n.2351A= | |
14 | g.91313592T>A | CA390630859 | CCDC88C | c.2224A>T (p.Lys742Ter) c.2116A>T (p.Lys706Ter) n.2352A>T n.2350A>T | |
14 | g.91313592T>C | CA390630862 | CCDC88C | c.2224A>G (p.Lys742Glu) c.2116A>G (p.Lys706Glu) n.2352A>G n.2350A>G | |
14 | g.91313592T>G | CA390630865 | CCDC88C | c.2224A>C (p.Lys742Gln) c.2116A>C (p.Lys706Gln) n.2352A>C n.2350A>C | |
14 | g.91313593C>A | CA390630869 | CCDC88C | c.2223G>T (p.Arg741Ser) c.2115G>T (p.Arg705Ser) n.2351G>T n.2349G>T | |
14 | g.91313593C>G | CA390630871 | CCDC88C | c.2223G>C (p.Arg741Ser) c.2115G>C (p.Arg705Ser) n.2351G>C n.2349G>C | |
14 | g.91313593C>T | CA487829932 | CCDC88C | c.2223G>A (p.Arg741=) c.2115G>A (p.Arg705=) n.2351G>A n.2349G>A | |
14 | g.91313594del | CA2626131139 | CCDC88C | c.2223del (p.Lys742ArgfsTer23) c.2115del (p.Lys706ArgfsTer23) n.2351del n.2349del | gnomAD v4 |
14 | g.91313594C>A | CA390630875 | CCDC88C | c.2222G>T (p.Arg741Met) c.2114G>T (p.Arg705Met) n.2350G>T n.2348G>T | |
14 | g.91313594C>G | CA390630877 | CCDC88C | c.2222G>C (p.Arg741Thr) c.2114G>C (p.Arg705Thr) n.2350G>C n.2348G>C | |
14 | g.91313594C>T | CA390630880 | CCDC88C | c.2222G>A (p.Arg741Lys) c.2114G>A (p.Arg705Lys) n.2350G>A n.2348G>A | |
14 | g.91313595T>A | CA390630883 | CCDC88C | c.2221A>T (p.Arg741Trp) c.2113A>T (p.Arg705Trp) n.2349A>T n.2347A>T | |
14 | g.91313595T>C | CA390630886 | CCDC88C | c.2221A>G (p.Arg741Gly) c.2113A>G (p.Arg705Gly) n.2349A>G n.2347A>G | |
14 | g.91313595T>G | CA487829933 | CCDC88C | c.2221A>C (p.Arg741=) c.2113A>C (p.Arg705=) n.2349A>C n.2347A>C | |
14 | g.91313596C>A | CA487829934 | CCDC88C | c.2220G>T (p.Leu740=) c.2112G>T (p.Leu704=) n.2348G>T n.2346G>T | |
14 | g.91313596C>G | CA487829935 | CCDC88C | c.2220G>C (p.Leu740=) c.2112G>C (p.Leu704=) n.2348G>C n.2346G>C | |
14 | g.91313596C>T | CA487829936 | CCDC88C | c.2220G>A (p.Leu740=) c.2112G>A (p.Leu704=) n.2348G>A n.2346G>A | |
14 | g.91313597A= | CA2154879090 | CCDC88C | c.2219T= (p.Leu740=) c.2111T= (p.Leu704=) n.2347T= n.2345T= | |
14 | g.91313597A>C | CA390630895 | CCDC88C | c.2219T>G (p.Leu740Arg) c.2111T>G (p.Leu704Arg) n.2347T>G n.2345T>G | |
14 | g.91313597A>G | CA265570063 | CCDC88C | c.2219T>C (p.Leu740Pro) c.2111T>C (p.Leu704Pro) n.2347T>C n.2345T>C | dbSNP |
14 | g.91313597A>T | CA390630892 | CCDC88C | c.2219T>A (p.Leu740Gln) c.2111T>A (p.Leu704Gln) n.2347T>A n.2345T>A | |
14 | g.91313598G>A | CA487829937 | CCDC88C | c.2218C>T (p.Leu740=) c.2110C>T (p.Leu704=) n.2346C>T n.2344C>T | ClinVar gnomAD v4 |
14 | g.91313598G>C | CA7309712 | CCDC88C | c.2218C>G (p.Leu740Val) c.2110C>G (p.Leu704Val) n.2346C>G n.2344C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313598G= | CA2154879096 | CCDC88C | c.2218C= (p.Leu740=) c.2110C= (p.Leu704=) n.2346C= n.2344C= | |
14 | g.91313598G>T | CA390630900 | CCDC88C | c.2218C>A (p.Leu740Met) c.2110C>A (p.Leu704Met) n.2346C>A n.2344C>A | |
14 | g.91313599C>A | CA390630904 | CCDC88C | c.2217G>T (p.Glu739Asp) c.2109G>T (p.Glu703Asp) n.2345G>T n.2343G>T | |
14 | g.91313599C= | CA2154879098 | CCDC88C | c.2217G= (p.Glu739=) c.2109G= (p.Glu703=) n.2345G= n.2343G= | |
14 | g.91313599C>G | CA390630907 | CCDC88C | c.2217G>C (p.Glu739Asp) c.2109G>C (p.Glu703Asp) n.2345G>C n.2343G>C | |
14 | g.91313599C>T | CA7309713 | CCDC88C | c.2217G>A (p.Glu739=) c.2109G>A (p.Glu703=) n.2345G>A n.2343G>A | dbSNP ExAC gnomAD v2 |
14 | g.91313600T>A | CA7309714 | CCDC88C | c.2216A>T (p.Glu739Val) c.2108A>T (p.Glu703Val) n.2344A>T n.2342A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313600T>C | CA390630915 | CCDC88C | c.2216A>G (p.Glu739Gly) c.2108A>G (p.Glu703Gly) n.2344A>G n.2342A>G | |
14 | g.91313600T>G | CA390630917 | CCDC88C | c.2216A>C (p.Glu739Ala) c.2108A>C (p.Glu703Ala) n.2344A>C n.2342A>C | |
14 | g.91313600T= | CA2154879103 | CCDC88C | c.2216A= (p.Glu739=) c.2108A= (p.Glu703=) n.2344A= n.2342A= | |
14 | g.91313601C>A | CA7309715 | CCDC88C | c.2215G>T (p.Glu739Ter) c.2107G>T (p.Glu703Ter) n.2343G>T n.2341G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313601C= | CA2154879106 | CCDC88C | c.2215G= (p.Glu739=) c.2107G= (p.Glu703=) n.2343G= n.2341G= | |
14 | g.91313601C>G | CA390630924 | CCDC88C | c.2215G>C (p.Glu739Gln) c.2107G>C (p.Glu703Gln) n.2343G>C n.2341G>C | |
14 | g.91313601C>T | CA390630926 | CCDC88C | c.2215G>A (p.Glu739Lys) c.2107G>A (p.Glu703Lys) n.2343G>A n.2341G>A | |
14 | g.91313602C>A | CA390630930 | CCDC88C | c.2214G>T (p.Glu738Asp) c.2106G>T (p.Glu702Asp) n.2342G>T n.2340G>T | |
14 | g.91313602C>G | CA390630932 | CCDC88C | c.2214G>C (p.Glu738Asp) c.2106G>C (p.Glu702Asp) n.2342G>C n.2340G>C | |
14 | g.91313602C>T | CA487829938 | CCDC88C | c.2214G>A (p.Glu738=) c.2106G>A (p.Glu702=) n.2342G>A n.2340G>A | |
14 | g.91313603T>A | CA390630940 | CCDC88C | c.2213A>T (p.Glu738Val) c.2105A>T (p.Glu702Val) n.2341A>T n.2339A>T | |
14 | g.91313603T>C | CA390630938 | CCDC88C | c.2213A>G (p.Glu738Gly) c.2105A>G (p.Glu702Gly) n.2341A>G n.2339A>G | |
14 | g.91313603T>G | CA390630936 | CCDC88C | c.2213A>C (p.Glu738Ala) c.2105A>C (p.Glu702Ala) n.2341A>C n.2339A>C | |
14 | g.91313604C>A | CA390630946 | CCDC88C | c.2212G>T (p.Glu738Ter) c.2104G>T (p.Glu702Ter) n.2340G>T n.2338G>T | |
14 | g.91313604C= | CA2154879113 | CCDC88C | c.2212G= (p.Glu738=) c.2104G= (p.Glu702=) n.2340G= n.2338G= | |
14 | g.91313604C>G | CA390630949 | CCDC88C | c.2212G>C (p.Glu738Gln) c.2104G>C (p.Glu702Gln) n.2340G>C n.2338G>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313604C>T | CA390630952 | CCDC88C | c.2212G>A (p.Glu738Lys) c.2104G>A (p.Glu702Lys) n.2340G>A n.2338G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
14 | g.91313604_91313607delinsCCTT | CA2154879114 | CCDC88C | c.2209_2212delinsAAGG (p.Lys737=) c.2101_2104delinsAAGG (p.Lys701=) n.2337_2340delinsAAGG n.2335_2338delinsAAGG | |
14 | g.91313606_91313647dup | CA2626131140 | CCDC88C | c.2171_2212dup (p.Lys737_Glu738insAlaGlnMetGluArgGluAsnGlnGlnLeuGluArgGluLys) c.2063_2104dup (p.Lys701_Glu702insAlaGlnMetGluArgGluAsnGlnGlnLeuGluArgGluLys) n.2299_2340dup n.2297_2338dup | gnomAD v4 |
14 | g.91313605C>A | CA390630955 | CCDC88C | c.2211G>T (p.Lys737Asn) c.2103G>T (p.Lys701Asn) n.2339G>T n.2337G>T | COSMIC COSMIC |
14 | g.91313605C>G | CA390630958 | CCDC88C | c.2211G>C (p.Lys737Asn) c.2103G>C (p.Lys701Asn) n.2339G>C n.2337G>C | |
14 | g.91313605C>T | CA487829939 | CCDC88C | c.2211G>A (p.Lys737=) c.2103G>A (p.Lys701=) n.2339G>A n.2337G>A | |
14 | g.91313607_91313609del | CA7309716 | CCDC88C | c.2209_2211del (p.Lys737del) c.2101_2103del (p.Lys701del) n.2337_2339del n.2335_2337del | dbSNP ExAC gnomAD v4 |
14 | g.91313606T>A | CA390630964 | CCDC88C | c.2210A>T (p.Lys737Met) c.2102A>T (p.Lys701Met) n.2338A>T n.2336A>T | |
14 | g.91313606T>C | CA7309717 | CCDC88C | c.2210A>G (p.Lys737Arg) c.2102A>G (p.Lys701Arg) n.2338A>G n.2336A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313606T>G | CA390630970 | CCDC88C | c.2210A>C (p.Lys737Thr) c.2102A>C (p.Lys701Thr) n.2338A>C n.2336A>C | |
14 | g.91313606T= | CA2154879119 | CCDC88C | c.2210A= (p.Lys737=) c.2102A= (p.Lys701=) n.2338A= n.2336A= | |
14 | g.91313607T>A | CA390630973 | CCDC88C | c.2209A>T (p.Lys737Ter) c.2101A>T (p.Lys701Ter) n.2337A>T n.2335A>T | |
14 | g.91313607T>C | CA7309718 | CCDC88C | c.2209A>G (p.Lys737Glu) c.2101A>G (p.Lys701Glu) n.2337A>G n.2335A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313607T>G | CA390630977 | CCDC88C | c.2209A>C (p.Lys737Gln) c.2101A>C (p.Lys701Gln) n.2337A>C n.2335A>C | |
14 | g.91313607T= | CA2154879123 | CCDC88C | c.2209A= (p.Lys737=) c.2101A= (p.Lys701=) n.2337A= n.2335A= | |
14 | g.91313608C>A | CA390630980 | CCDC88C | c.2208G>T (p.Glu736Asp) c.2100G>T (p.Glu700Asp) n.2336G>T n.2334G>T | |
14 | g.91313608C>G | CA390630982 | CCDC88C | c.2208G>C (p.Glu736Asp) c.2100G>C (p.Glu700Asp) n.2336G>C n.2334G>C | |
14 | g.91313608C>T | CA487829940 | CCDC88C | c.2208G>A (p.Glu736=) c.2100G>A (p.Glu700=) n.2336G>A n.2334G>A | |
14 | g.91313609T>A | CA390630989 | CCDC88C | c.2207A>T (p.Glu736Val) c.2099A>T (p.Glu700Val) n.2335A>T n.2333A>T | |
14 | g.91313609T>C | CA390630992 | CCDC88C | c.2207A>G (p.Glu736Gly) c.2099A>G (p.Glu700Gly) n.2335A>G n.2333A>G | |
14 | g.91313609T>G | CA390630986 | CCDC88C | c.2207A>C (p.Glu736Ala) c.2099A>C (p.Glu700Ala) n.2335A>C n.2333A>C | |
14 | g.91313610C>A | CA390630996 | CCDC88C | c.2206G>T (p.Glu736Ter) c.2098G>T (p.Glu700Ter) n.2334G>T n.2332G>T | |
14 | g.91313610C>G | CA390630999 | CCDC88C | c.2206G>C (p.Glu736Gln) c.2098G>C (p.Glu700Gln) n.2334G>C n.2332G>C | |
14 | g.91313610C>T | CA390631002 | CCDC88C | c.2206G>A (p.Glu736Lys) c.2098G>A (p.Glu700Lys) n.2334G>A n.2332G>A | |
14 | g.91313611A>C | CA487829941 | CCDC88C | c.2205T>G (p.Arg735=) c.2097T>G (p.Arg699=) n.2333T>G n.2331T>G | |
14 | g.91313611A>G | CA487829942 | CCDC88C | c.2205T>C (p.Arg735=) c.2097T>C (p.Arg699=) n.2333T>C n.2331T>C | |
14 | g.91313611A>T | CA487829943 | CCDC88C | c.2205T>A (p.Arg735=) c.2097T>A (p.Arg699=) n.2333T>A n.2331T>A | |
14 | g.91313612C>A | CA7309719 | CCDC88C | c.2204G>T (p.Arg735Leu) c.2096G>T (p.Arg699Leu) n.2332G>T n.2330G>T | dbSNP ExAC gnomAD v2 |
14 | g.91313612C= | CA2154879129 | CCDC88C | c.2204G= (p.Arg735=) c.2096G= (p.Arg699=) n.2332G= n.2330G= | |
14 | g.91313612C>G | CA390631008 | CCDC88C | c.2204G>C (p.Arg735Pro) c.2096G>C (p.Arg699Pro) n.2332G>C n.2330G>C | |
14 | g.91313612C>T | CA171510 | CCDC88C | c.2204G>A (p.Arg735His) c.2096G>A (p.Arg699His) n.2332G>A n.2330G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313613G>A | CA7309720 | CCDC88C | c.2203C>T (p.Arg735Cys) c.2095C>T (p.Arg699Cys) n.2331C>T n.2329C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313613G>C | CA390631013 | CCDC88C | c.2203C>G (p.Arg735Gly) c.2095C>G (p.Arg699Gly) n.2331C>G n.2329C>G | |
14 | g.91313613G= | CA2154879138 | CCDC88C | c.2203C= (p.Arg735=) c.2095C= (p.Arg699=) n.2331C= n.2329C= | |
14 | g.91313613G>T | CA390631016 | CCDC88C | c.2203C>A (p.Arg735Ser) c.2095C>A (p.Arg699Ser) n.2331C>A n.2329C>A | |
14 | g.91313614C>A | CA390631023 | CCDC88C | c.2202G>T (p.Glu734Asp) c.2094G>T (p.Glu698Asp) n.2330G>T n.2328G>T | |
14 | g.91313614C>G | CA390631026 | CCDC88C | c.2202G>C (p.Glu734Asp) c.2094G>C (p.Glu698Asp) n.2330G>C n.2328G>C | |
14 | g.91313614C>T | CA487829944 | CCDC88C | c.2202G>A (p.Glu734=) c.2094G>A (p.Glu698=) n.2330G>A n.2328G>A | |
14 | g.91313615T>A | CA390631030 | CCDC88C | c.2201A>T (p.Glu734Val) c.2093A>T (p.Glu698Val) n.2329A>T n.2327A>T | |
14 | g.91313615T>C | CA390631033 | CCDC88C | c.2201A>G (p.Glu734Gly) c.2093A>G (p.Glu698Gly) n.2329A>G n.2327A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313615T>G | CA390631036 | CCDC88C | c.2201A>C (p.Glu734Ala) c.2093A>C (p.Glu698Ala) n.2329A>C n.2327A>C | |
14 | g.91313615T= | CA2154879139 | CCDC88C | c.2201A= (p.Glu734=) c.2093A= (p.Glu698=) n.2329A= n.2327A= | |
14 | g.91313616C>A | CA390631046 | CCDC88C | c.2200G>T (p.Glu734Ter) c.2092G>T (p.Glu698Ter) n.2328G>T n.2326G>T | |
14 | g.91313616C>G | CA390631051 | CCDC88C | c.2200G>C (p.Glu734Gln) c.2092G>C (p.Glu698Gln) n.2328G>C n.2326G>C | |
14 | g.91313616C>T | CA390631049 | CCDC88C | c.2200G>A (p.Glu734Lys) c.2092G>A (p.Glu698Lys) n.2328G>A n.2326G>A | |
14 | g.91313617C>A | CA487829945 | CCDC88C | c.2199G>T (p.Leu733=) c.2091G>T (p.Leu697=) n.2327G>T n.2325G>T | |
14 | g.91313617C= | CA2154879141 | CCDC88C | c.2199G= (p.Leu733=) c.2091G= (p.Leu697=) n.2327G= n.2325G= | |
14 | g.91313617C>G | CA487829946 | CCDC88C | c.2199G>C (p.Leu733=) c.2091G>C (p.Leu697=) n.2327G>C n.2325G>C | |
14 | g.91313617C>T | CA487829947 | CCDC88C | c.2199G>A (p.Leu733=) c.2091G>A (p.Leu697=) n.2327G>A n.2325G>A | dbSNP gnomAD v3 gnomAD v4 |
14 | g.91313618A>C | CA390631055 | CCDC88C | c.2198T>G (p.Leu733Arg) c.2090T>G (p.Leu697Arg) n.2326T>G n.2324T>G | |
14 | g.91313618A>G | CA390631058 | CCDC88C | c.2198T>C (p.Leu733Pro) c.2090T>C (p.Leu697Pro) n.2326T>C n.2324T>C | gnomAD v4 |
14 | g.91313618A>T | CA390631060 | CCDC88C | c.2198T>A (p.Leu733Gln) c.2090T>A (p.Leu697Gln) n.2326T>A n.2324T>A | |
14 | g.91313619G>A | CA487829948 | CCDC88C | c.2197C>T (p.Leu733=) c.2089C>T (p.Leu697=) n.2325C>T n.2323C>T | |
14 | g.91313619G>C | CA390631062 | CCDC88C | c.2197C>G (p.Leu733Val) c.2089C>G (p.Leu697Val) n.2325C>G n.2323C>G | |
14 | g.91313619G>T | CA390631064 | CCDC88C | c.2197C>A (p.Leu733Met) c.2089C>A (p.Leu697Met) n.2325C>A n.2323C>A | |
14 | g.91313620C>A | CA7309721 | CCDC88C | c.2196G>T (p.Gln732His) c.2088G>T (p.Gln696His) n.2324G>T n.2322G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313620C= | CA2154879144 | CCDC88C | c.2196G= (p.Gln732=) c.2088G= (p.Gln696=) n.2324G= n.2322G= | |
14 | g.91313620C>G | CA390631067 | CCDC88C | c.2196G>C (p.Gln732His) c.2088G>C (p.Gln696His) n.2324G>C n.2322G>C | gnomAD v3 gnomAD v4 |
14 | g.91313620C>T | CA487829949 | CCDC88C | c.2196G>A (p.Gln732=) c.2088G>A (p.Gln696=) n.2324G>A n.2322G>A | |
14 | g.91313621T>A | CA390631069 | CCDC88C | c.2195A>T (p.Gln732Leu) c.2087A>T (p.Gln696Leu) n.2323A>T n.2321A>T | |
14 | g.91313621T>C | CA390631071 | CCDC88C | c.2195A>G (p.Gln732Arg) c.2087A>G (p.Gln696Arg) n.2323A>G n.2321A>G | |
14 | g.91313621T>G | CA390631073 | CCDC88C | c.2195A>C (p.Gln732Pro) c.2087A>C (p.Gln696Pro) n.2323A>C n.2321A>C | |
14 | g.91313622G>A | CA7309723 | CCDC88C | c.2194C>T (p.Gln732Ter) c.2086C>T (p.Gln696Ter) n.2322C>T n.2320C>T | dbSNP ExAC gnomAD v2 |
14 | g.91313622G>C | CA390631077 | CCDC88C | c.2194C>G (p.Gln732Glu) c.2086C>G (p.Gln696Glu) n.2322C>G n.2320C>G | |
14 | g.91313622G= | CA2154879151 | CCDC88C | c.2194C= (p.Gln732=) c.2086C= (p.Gln696=) n.2322C= n.2320C= | |
14 | g.91313622G>T | CA7309722 | CCDC88C | c.2194C>A (p.Gln732Lys) c.2086C>A (p.Gln696Lys) n.2322C>A n.2320C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313623C>A | CA390631079 | CCDC88C | c.2193G>T (p.Gln731His) c.2085G>T (p.Gln695His) n.2321G>T n.2319G>T | |
14 | g.91313623C= | CA2154879156 | CCDC88C | c.2193G= (p.Gln731=) c.2085G= (p.Gln695=) n.2321G= n.2319G= | |
14 | g.91313623C>G | CA390631082 | CCDC88C | c.2193G>C (p.Gln731His) c.2085G>C (p.Gln695His) n.2321G>C n.2319G>C | |
14 | g.91313623C>T | CA7309724 | CCDC88C | c.2193G>A (p.Gln731=) c.2085G>A (p.Gln695=) n.2321G>A n.2319G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313624T>A | CA390631085 | CCDC88C | c.2192A>T (p.Gln731Leu) c.2084A>T (p.Gln695Leu) n.2320A>T n.2318A>T | |
14 | g.91313624T>C | CA390631089 | CCDC88C | c.2192A>G (p.Gln731Arg) c.2084A>G (p.Gln695Arg) n.2320A>G n.2318A>G | |
14 | g.91313624T>G | CA390631087 | CCDC88C | c.2192A>C (p.Gln731Pro) c.2084A>C (p.Gln695Pro) n.2320A>C n.2318A>C | |
14 | g.91313625G>A | CA390631091 | CCDC88C | c.2191C>T (p.Gln731Ter) c.2083C>T (p.Gln695Ter) n.2319C>T n.2317C>T | gnomAD v4 |
14 | g.91313625G>C | CA390631094 | CCDC88C | c.2191C>G (p.Gln731Glu) c.2083C>G (p.Gln695Glu) n.2319C>G n.2317C>G | |
14 | g.91313625G>T | CA390631093 | CCDC88C | c.2191C>A (p.Gln731Lys) c.2083C>A (p.Gln695Lys) n.2319C>A n.2317C>A | gnomAD v4 |
14 | g.91313626G>A | CA7309725 | CCDC88C | c.2190C>T (p.Asn730=) c.2082C>T (p.Asn694=) n.2318C>T n.2316C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313626G>C | CA390631098 | CCDC88C | c.2190C>G (p.Asn730Lys) c.2082C>G (p.Asn694Lys) n.2318C>G n.2316C>G | |
14 | g.91313626G= | CA2154879159 | CCDC88C | c.2190C= (p.Asn730=) c.2082C= (p.Asn694=) n.2318C= n.2316C= | |
14 | g.91313626G>T | CA390631100 | CCDC88C | c.2190C>A (p.Asn730Lys) c.2082C>A (p.Asn694Lys) n.2318C>A n.2316C>A | gnomAD v4 |
14 | g.91313627T>A | CA390631103 | CCDC88C | c.2189A>T (p.Asn730Ile) c.2081A>T (p.Asn694Ile) n.2317A>T n.2315A>T | |
14 | g.91313627T>C | CA390631105 | CCDC88C | c.2189A>G (p.Asn730Ser) c.2081A>G (p.Asn694Ser) n.2317A>G n.2315A>G | COSMIC COSMIC |
14 | g.91313627T>G | CA390631107 | CCDC88C | c.2189A>C (p.Asn730Thr) c.2081A>C (p.Asn694Thr) n.2317A>C n.2315A>C | |
14 | g.91313628T>A | CA390631111 | CCDC88C | c.2188A>T (p.Asn730Tyr) c.2080A>T (p.Asn694Tyr) n.2316A>T n.2314A>T | |
14 | g.91313628T>C | CA390631113 | CCDC88C | c.2188A>G (p.Asn730Asp) c.2080A>G (p.Asn694Asp) n.2316A>G n.2314A>G | |
14 | g.91313628T>G | CA390631115 | CCDC88C | c.2188A>C (p.Asn730His) c.2080A>C (p.Asn694His) n.2316A>C n.2314A>C | |
14 | g.91313629C>A | CA390631117 | CCDC88C | c.2187G>T (p.Glu729Asp) c.2079G>T (p.Glu693Asp) n.2315G>T n.2313G>T | |
14 | g.91313629C= | CA2154879162 | CCDC88C | c.2187G= (p.Glu729=) c.2079G= (p.Glu693=) n.2315G= n.2313G= | |
14 | g.91313629C>G | CA390631118 | CCDC88C | c.2187G>C (p.Glu729Asp) c.2079G>C (p.Glu693Asp) n.2315G>C n.2313G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313629C>T | CA487829950 | CCDC88C | c.2187G>A (p.Glu729=) c.2079G>A (p.Glu693=) n.2315G>A n.2313G>A | |
14 | g.91313630T>A | CA390631123 | CCDC88C | c.2186A>T (p.Glu729Val) c.2078A>T (p.Glu693Val) n.2314A>T n.2312A>T | |
14 | g.91313630T>C | CA7309726 | CCDC88C | c.2186A>G (p.Glu729Gly) c.2078A>G (p.Glu693Gly) n.2314A>G n.2312A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313630T>G | CA390631121 | CCDC88C | c.2186A>C (p.Glu729Ala) c.2078A>C (p.Glu693Ala) n.2314A>C n.2312A>C | |
14 | g.91313630T= | CA2154879166 | CCDC88C | c.2186A= (p.Glu729=) c.2078A= (p.Glu693=) n.2314A= n.2312A= | |
14 | g.91313631C>A | CA390631125 | CCDC88C | c.2185G>T (p.Glu729Ter) c.2077G>T (p.Glu693Ter) n.2313G>T n.2311G>T | |
14 | g.91313631C>G | CA390631126 | CCDC88C | c.2185G>C (p.Glu729Gln) c.2077G>C (p.Glu693Gln) n.2313G>C n.2311G>C | |
14 | g.91313631C>T | CA390631127 | CCDC88C | c.2185G>A (p.Glu729Lys) c.2077G>A (p.Glu693Lys) n.2313G>A n.2311G>A | |
14 | g.91313632C>A | CA390631129 | CCDC88C | c.2184G>T (p.Arg728Ser) c.2076G>T (p.Arg692Ser) n.2312G>T n.2310G>T | gnomAD v4 |
14 | g.91313632C>G | CA390631131 | CCDC88C | c.2184G>C (p.Arg728Ser) c.2076G>C (p.Arg692Ser) n.2312G>C n.2310G>C | |
14 | g.91313632C>T | CA487829951 | CCDC88C | c.2184G>A (p.Arg728=) c.2076G>A (p.Arg692=) n.2312G>A n.2310G>A | gnomAD v4 COSMIC COSMIC |
14 | g.91313633C>A | CA390631133 | CCDC88C | c.2183G>T (p.Arg728Met) c.2075G>T (p.Arg692Met) n.2311G>T n.2309G>T | |
14 | g.91313633C>G | CA390631134 | CCDC88C | c.2183G>C (p.Arg728Thr) c.2075G>C (p.Arg692Thr) n.2311G>C n.2309G>C | |
14 | g.91313633C>T | CA390631135 | CCDC88C | c.2183G>A (p.Arg728Lys) c.2075G>A (p.Arg692Lys) n.2311G>A n.2309G>A | gnomAD v4 |
14 | g.91313634T>A | CA390631136 | CCDC88C | c.2182A>T (p.Arg728Trp) c.2074A>T (p.Arg692Trp) n.2310A>T n.2308A>T | |
14 | g.91313634T>C | CA390631137 | CCDC88C | c.2182A>G (p.Arg728Gly) c.2074A>G (p.Arg692Gly) n.2310A>G n.2308A>G | |
14 | g.91313634T>G | CA487829952 | CCDC88C | c.2182A>C (p.Arg728=) c.2074A>C (p.Arg692=) n.2310A>C n.2308A>C | |
14 | g.91313635C>A | CA390631139 | CCDC88C | c.2181G>T (p.Glu727Asp) c.2073G>T (p.Glu691Asp) n.2309G>T n.2307G>T | |
14 | g.91313635C= | CA2154879171 | CCDC88C | c.2181G= (p.Glu727=) c.2073G= (p.Glu691=) n.2309G= n.2307G= | |
14 | g.91313635C>G | CA390631138 | CCDC88C | c.2181G>C (p.Glu727Asp) c.2073G>C (p.Glu691Asp) n.2309G>C n.2307G>C | |
14 | g.91313635C>T | CA7309727 | CCDC88C | c.2181G>A (p.Glu727=) c.2073G>A (p.Glu691=) n.2309G>A n.2307G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313636T>A | CA390631140 | CCDC88C | c.2180A>T (p.Glu727Val) c.2072A>T (p.Glu691Val) n.2308A>T n.2306A>T | |
14 | g.91313636T>C | CA390631141 | CCDC88C | c.2180A>G (p.Glu727Gly) c.2072A>G (p.Glu691Gly) n.2308A>G n.2306A>G | |
14 | g.91313636T>G | CA390631142 | CCDC88C | c.2180A>C (p.Glu727Ala) c.2072A>C (p.Glu691Ala) n.2308A>C n.2306A>C | |
14 | g.91313637C>A | CA390631143 | CCDC88C | c.2179G>T (p.Glu727Ter) c.2071G>T (p.Glu691Ter) n.2307G>T n.2305G>T | |
14 | g.91313637C>G | CA390631144 | CCDC88C | c.2179G>C (p.Glu727Gln) c.2071G>C (p.Glu691Gln) n.2307G>C n.2305G>C | |
14 | g.91313637C>T | CA390631145 | CCDC88C | c.2179G>A (p.Glu727Lys) c.2071G>A (p.Glu691Lys) n.2307G>A n.2305G>A | gnomAD v4 |
14 | g.91313638C>A | CA390631146 | CCDC88C | c.2178G>T (p.Met726Ile) c.2070G>T (p.Met690Ile) n.2306G>T n.2304G>T | |
14 | g.91313638C>G | CA390631147 | CCDC88C | c.2178G>C (p.Met726Ile) c.2070G>C (p.Met690Ile) n.2306G>C n.2304G>C | |
14 | g.91313638C>T | CA390631148 | CCDC88C | c.2178G>A (p.Met726Ile) c.2070G>A (p.Met690Ile) n.2306G>A n.2304G>A | COSMIC COSMIC |
14 | g.91313641_91313670del | CA2802582090 | CCDC88C | c.2149_2178del (p.Arg717_Met726del) c.2041_2070del (p.Arg681_Met690del) n.2277_2306del n.2275_2304del | |
14 | g.91313639A>C | CA390631149 | CCDC88C | c.2177T>G (p.Met726Arg) c.2069T>G (p.Met690Arg) n.2305T>G n.2303T>G | |
14 | g.91313639A>G | CA390631150 | CCDC88C | c.2177T>C (p.Met726Thr) c.2069T>C (p.Met690Thr) n.2305T>C n.2303T>C | |
14 | g.91313639A>T | CA390631151 | CCDC88C | c.2177T>A (p.Met726Lys) c.2069T>A (p.Met690Lys) n.2305T>A n.2303T>A | |
14 | g.91313640T>A | CA390631153 | CCDC88C | c.2176A>T (p.Met726Leu) c.2068A>T (p.Met690Leu) n.2304A>T n.2302A>T | |
14 | g.91313640T>C | CA7309728 | CCDC88C | c.2176A>G (p.Met726Val) c.2068A>G (p.Met690Val) n.2304A>G n.2302A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313640T>G | CA390631152 | CCDC88C | c.2176A>C (p.Met726Leu) c.2068A>C (p.Met690Leu) n.2304A>C n.2302A>C | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313640T= | CA2154879179 | CCDC88C | c.2176A= (p.Met726=) c.2068A= (p.Met690=) n.2304A= n.2302A= | |
14 | g.91313641C>A | CA390631154 | CCDC88C | c.2175G>T (p.Gln725His) c.2067G>T (p.Gln689His) n.2303G>T n.2301G>T | gnomAD v4 |
14 | g.91313641C= | CA2154879181 | CCDC88C | c.2175G= (p.Gln725=) c.2067G= (p.Gln689=) n.2303G= n.2301G= | |
14 | g.91313641C>G | CA390631155 | CCDC88C | c.2175G>C (p.Gln725His) c.2067G>C (p.Gln689His) n.2303G>C n.2301G>C | |
14 | g.91313641C>T | CA7309729 | CCDC88C | c.2175G>A (p.Gln725=) c.2067G>A (p.Gln689=) n.2303G>A n.2301G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313642T>A | CA390631156 | CCDC88C | c.2174A>T (p.Gln725Leu) c.2066A>T (p.Gln689Leu) n.2302A>T n.2300A>T | |
14 | g.91313642T>C | CA390631157 | CCDC88C | c.2174A>G (p.Gln725Arg) c.2066A>G (p.Gln689Arg) n.2302A>G n.2300A>G | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313642T>G | CA390631158 | CCDC88C | c.2174A>C (p.Gln725Pro) c.2066A>C (p.Gln689Pro) n.2302A>C n.2300A>C | |
14 | g.91313642T= | CA2154879185 | CCDC88C | c.2174A= (p.Gln725=) c.2066A= (p.Gln689=) n.2302A= n.2300A= | |
14 | g.91313643G>A | CA390631159 | CCDC88C | c.2173C>T (p.Gln725Ter) c.2065C>T (p.Gln689Ter) n.2301C>T n.2299C>T | |
14 | g.91313643G>C | CA390631160 | CCDC88C | c.2173C>G (p.Gln725Glu) c.2065C>G (p.Gln689Glu) n.2301C>G n.2299C>G | |
14 | g.91313643G>T | CA390631161 | CCDC88C | c.2173C>A (p.Gln725Lys) c.2065C>A (p.Gln689Lys) n.2301C>A n.2299C>A | gnomAD v4 |
14 | g.91313644T>A | CA487829953 | CCDC88C | c.2172A>T (p.Ala724=) c.2064A>T (p.Ala688=) n.2300A>T n.2298A>T | gnomAD v4 |
14 | g.91313644T>C | CA487829954 | CCDC88C | c.2172A>G (p.Ala724=) c.2064A>G (p.Ala688=) n.2300A>G n.2298A>G | |
14 | g.91313644T>G | CA487829955 | CCDC88C | c.2172A>C (p.Ala724=) c.2064A>C (p.Ala688=) n.2300A>C n.2298A>C | |
14 | g.91313645G>A | CA7309730 | CCDC88C | c.2171C>T (p.Ala724Val) c.2063C>T (p.Ala688Val) n.2299C>T n.2297C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313645G>C | CA390631165 | CCDC88C | c.2171C>G (p.Ala724Gly) c.2063C>G (p.Ala688Gly) n.2299C>G n.2297C>G | |
14 | g.91313645G= | CA2154879189 | CCDC88C | c.2171C= (p.Ala724=) c.2063C= (p.Ala688=) n.2299C= n.2297C= | |
14 | g.91313645G>T | CA390631167 | CCDC88C | c.2171C>A (p.Ala724Glu) c.2063C>A (p.Ala688Glu) n.2299C>A n.2297C>A | gnomAD v4 |
14 | g.91313646C>A | CA390631172 | CCDC88C | c.2170G>T (p.Ala724Ser) c.2062G>T (p.Ala688Ser) n.2298G>T n.2296G>T | |
14 | g.91313646C>G | CA390631170 | CCDC88C | c.2170G>C (p.Ala724Pro) c.2062G>C (p.Ala688Pro) n.2298G>C n.2296G>C | |
14 | g.91313646C>T | CA390631169 | CCDC88C | c.2170G>A (p.Ala724Thr) c.2062G>A (p.Ala688Thr) n.2298G>A n.2296G>A | gnomAD v4 |
14 | g.91313647C>A | CA487829956 | CCDC88C | c.2169G>T (p.Leu723=) c.2061G>T (p.Leu687=) n.2297G>T n.2295G>T | |
14 | g.91313647C= | CA2154879193 | CCDC88C | c.2169G= (p.Leu723=) c.2061G= (p.Leu687=) n.2297G= n.2295G= | |
14 | g.91313647C>G | CA487829957 | CCDC88C | c.2169G>C (p.Leu723=) c.2061G>C (p.Leu687=) n.2297G>C n.2295G>C | |
14 | g.91313647C>T | CA487829958 | CCDC88C | c.2169G>A (p.Leu723=) c.2061G>A (p.Leu687=) n.2297G>A n.2295G>A | dbSNP gnomAD v4 |
14 | g.91313648A>C | CA390631176 | CCDC88C | c.2168T>G (p.Leu723Arg) c.2060T>G (p.Leu687Arg) n.2296T>G n.2294T>G | |
14 | g.91313648A>G | CA390631174 | CCDC88C | c.2168T>C (p.Leu723Pro) c.2060T>C (p.Leu687Pro) n.2296T>C n.2294T>C | |
14 | g.91313648A>T | CA390631177 | CCDC88C | c.2168T>A (p.Leu723Gln) c.2060T>A (p.Leu687Gln) n.2296T>A n.2294T>A | |
14 | g.91313649G>A | CA487829959 | CCDC88C | c.2167C>T (p.Leu723=) c.2059C>T (p.Leu687=) n.2295C>T n.2293C>T | |
14 | g.91313649G>C | CA7309731 | CCDC88C | c.2167C>G (p.Leu723Val) c.2059C>G (p.Leu687Val) n.2295C>G n.2293C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313649G= | CA2154879199 | CCDC88C | c.2167C= (p.Leu723=) c.2059C= (p.Leu687=) n.2295C= n.2293C= | |
14 | g.91313649G>T | CA390631178 | CCDC88C | c.2167C>A (p.Leu723Met) c.2059C>A (p.Leu687Met) n.2295C>A n.2293C>A | |
14 | g.91313650C>A | CA390631180 | CCDC88C | c.2166G>T (p.Lys722Asn) c.2058G>T (p.Lys686Asn) n.2294G>T n.2292G>T | gnomAD v4 |
14 | g.91313650C= | CA2154879204 | CCDC88C | c.2166G= (p.Lys722=) c.2058G= (p.Lys686=) n.2294G= n.2292G= | |
14 | g.91313650C>G | CA390631184 | CCDC88C | c.2166G>C (p.Lys722Asn) c.2058G>C (p.Lys686Asn) n.2294G>C n.2292G>C | |
14 | g.91313650C>T | CA487829960 | CCDC88C | c.2166G>A (p.Lys722=) c.2058G>A (p.Lys686=) n.2294G>A n.2292G>A | dbSNP |
14 | g.91313651T>A | CA390631186 | CCDC88C | c.2165A>T (p.Lys722Met) c.2057A>T (p.Lys686Met) n.2293A>T n.2291A>T | |
14 | g.91313651T>C | CA390631187 | CCDC88C | c.2165A>G (p.Lys722Arg) c.2057A>G (p.Lys686Arg) n.2293A>G n.2291A>G | |
14 | g.91313651T>G | CA390631188 | CCDC88C | c.2165A>C (p.Lys722Thr) c.2057A>C (p.Lys686Thr) n.2293A>C n.2291A>C | |
14 | g.91313652T>A | CA390631190 | CCDC88C | c.2164A>T (p.Lys722Ter) c.2056A>T (p.Lys686Ter) n.2292A>T n.2290A>T | |
14 | g.91313652T>C | CA390631192 | CCDC88C | c.2164A>G (p.Lys722Glu) c.2056A>G (p.Lys686Glu) n.2292A>G n.2290A>G | |
14 | g.91313652T>G | CA390631194 | CCDC88C | c.2164A>C (p.Lys722Gln) c.2056A>C (p.Lys686Gln) n.2292A>C n.2290A>C | |
14 | g.91313653G>A | CA487829964 | CCDC88C | c.2163C>T (p.Thr721=) c.2055C>T (p.Thr685=) n.2291C>T n.2289C>T | |
14 | g.91313653G>C | CA487829963 | CCDC88C | c.2163C>G (p.Thr721=) c.2055C>G (p.Thr685=) n.2291C>G n.2289C>G | |
14 | g.91313653G>T | CA487829962 | CCDC88C | c.2163C>A (p.Thr721=) c.2055C>A (p.Thr685=) n.2291C>A n.2289C>A | gnomAD v4 |
14 | g.91313654G>A | CA390631196 | CCDC88C | c.2162C>T (p.Thr721Ile) c.2054C>T (p.Thr685Ile) n.2290C>T n.2288C>T | dbSNP gnomAD v2 |
14 | g.91313654G>C | CA390631198 | CCDC88C | c.2162C>G (p.Thr721Ser) c.2054C>G (p.Thr685Ser) n.2290C>G n.2288C>G | |
14 | g.91313654G= | CA2154879206 | CCDC88C | c.2162C= (p.Thr721=) c.2054C= (p.Thr685=) n.2290C= n.2288C= | |
14 | g.91313654G>T | CA390631201 | CCDC88C | c.2162C>A (p.Thr721Asn) c.2054C>A (p.Thr685Asn) n.2290C>A n.2288C>A | gnomAD v4 |
14 | g.91313655T>A | CA390631209 | CCDC88C | c.2161A>T (p.Thr721Ser) c.2053A>T (p.Thr685Ser) n.2289A>T n.2287A>T | |
14 | g.91313655T>C | CA390631204 | CCDC88C | c.2161A>G (p.Thr721Ala) c.2053A>G (p.Thr685Ala) n.2289A>G n.2287A>G | |
14 | g.91313655T>G | CA390631207 | CCDC88C | c.2161A>C (p.Thr721Pro) c.2053A>C (p.Thr685Pro) n.2289A>C n.2287A>C | |
14 | g.91313656G>A | CA487829965 | CCDC88C | c.2160C>T (p.Ser720=) c.2052C>T (p.Ser684=) n.2288C>T n.2286C>T | |
14 | g.91313656G>C | CA390631213 | CCDC88C | c.2160C>G (p.Ser720Arg) c.2052C>G (p.Ser684Arg) n.2288C>G n.2286C>G | |
14 | g.91313656G= | CA2154879208 | CCDC88C | c.2160C= (p.Ser720=) c.2052C= (p.Ser684=) n.2288C= n.2286C= | |
14 | g.91313656G>T | CA390631216 | CCDC88C | c.2160C>A (p.Ser720Arg) c.2052C>A (p.Ser684Arg) n.2288C>A n.2286C>A | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313657C>A | CA390631219 | CCDC88C | c.2159G>T (p.Ser720Ile) c.2051G>T (p.Ser684Ile) n.2287G>T n.2285G>T | |
14 | g.91313657C>G | CA390631223 | CCDC88C | c.2159G>C (p.Ser720Thr) c.2051G>C (p.Ser684Thr) n.2287G>C n.2285G>C | |
14 | g.91313657C>T | CA390631226 | CCDC88C | c.2159G>A (p.Ser720Asn) c.2051G>A (p.Ser684Asn) n.2287G>A n.2285G>A | |
14 | g.91313658T>A | CA390631229 | CCDC88C | c.2158A>T (p.Ser720Cys) c.2050A>T (p.Ser684Cys) n.2286A>T n.2284A>T | |
14 | g.91313658T>C | CA390631231 | CCDC88C | c.2158A>G (p.Ser720Gly) c.2050A>G (p.Ser684Gly) n.2286A>G n.2284A>G | |
14 | g.91313658T>G | CA390631234 | CCDC88C | c.2158A>C (p.Ser720Arg) c.2050A>C (p.Ser684Arg) n.2286A>C n.2284A>C | |
14 | g.91313659G>A | CA487829968 | CCDC88C | c.2157C>T (p.Thr719=) c.2049C>T (p.Thr683=) n.2285C>T n.2283C>T | dbSNP gnomAD v4 |
14 | g.91313659G>C | CA487829969 | CCDC88C | c.2157C>G (p.Thr719=) c.2049C>G (p.Thr683=) n.2285C>G n.2283C>G | |
14 | g.91313659G= | CA2154879210 | CCDC88C | c.2157C= (p.Thr719=) c.2049C= (p.Thr683=) n.2285C= n.2283C= | |
14 | g.91313659G>T | CA487829970 | CCDC88C | c.2157C>A (p.Thr719=) c.2049C>A (p.Thr683=) n.2285C>A n.2283C>A | |
14 | g.91313660G>A | CA390631238 | CCDC88C | c.2156C>T (p.Thr719Ile) c.2048C>T (p.Thr683Ile) n.2284C>T n.2282C>T | |
14 | g.91313660G>C | CA390631240 | CCDC88C | c.2156C>G (p.Thr719Ser) c.2048C>G (p.Thr683Ser) n.2284C>G n.2282C>G | |
14 | g.91313660G>T | CA390631242 | CCDC88C | c.2156C>A (p.Thr719Asn) c.2048C>A (p.Thr683Asn) n.2284C>A n.2282C>A | gnomAD v4 |
14 | g.91313661T>A | CA390631257 | CCDC88C | c.2155A>T (p.Thr719Ser) c.2047A>T (p.Thr683Ser) n.2283A>T n.2281A>T | dbSNP |
14 | g.91313661T>C | CA390631254 | CCDC88C | c.2155A>G (p.Thr719Ala) c.2047A>G (p.Thr683Ala) n.2283A>G n.2281A>G | |
14 | g.91313661T>G | CA7309732 | CCDC88C | c.2155A>C (p.Thr719Pro) c.2047A>C (p.Thr683Pro) n.2283A>C n.2281A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.91313661T= | CA2154879213 | CCDC88C | c.2155A= (p.Thr719=) c.2047A= (p.Thr683=) n.2283A= n.2281A= | |
14 | g.91313662G>A | CA487829972 | CCDC88C | c.2154C>T (p.Phe718=) c.2046C>T (p.Phe682=) n.2282C>T n.2280C>T | |
14 | g.91313662G>C | CA390631260 | CCDC88C | c.2154C>G (p.Phe718Leu) c.2046C>G (p.Phe682Leu) n.2282C>G n.2280C>G | |
14 | g.91313662G>T | CA390631264 | CCDC88C | c.2154C>A (p.Phe718Leu) c.2046C>A (p.Phe682Leu) n.2282C>A n.2280C>A | |
14 | g.91313663A>C | CA390631269 | CCDC88C | c.2153T>G (p.Phe718Cys) c.2045T>G (p.Phe682Cys) n.2281T>G n.2279T>G | |
14 | g.91313663A>G | CA390631272 | CCDC88C | c.2153T>C (p.Phe718Ser) c.2045T>C (p.Phe682Ser) n.2281T>C n.2279T>C | |
14 | g.91313663A>T | CA390631275 | CCDC88C | c.2153T>A (p.Phe718Tyr) c.2045T>A (p.Phe682Tyr) n.2281T>A n.2279T>A | |
14 | g.91313664A= | CA2154879216 | CCDC88C | c.2152T= (p.Phe718=) c.2044T= (p.Phe682=) n.2280T= n.2278T= | |
14 | g.91313664A>C | CA390631288 | CCDC88C | c.2152T>G (p.Phe718Val) c.2044T>G (p.Phe682Val) n.2280T>G n.2278T>G | |
14 | g.91313664A>G | CA390631284 | CCDC88C | c.2152T>C (p.Phe718Leu) c.2044T>C (p.Phe682Leu) n.2280T>C n.2278T>C | dbSNP |
14 | g.91313664A>T | CA390631279 | CCDC88C | c.2152T>A (p.Phe718Ile) c.2044T>A (p.Phe682Ile) n.2280T>A n.2278T>A | |
14 | g.91313665G>A | CA487829975 | CCDC88C | c.2151C>T (p.Arg717=) c.2043C>T (p.Arg681=) n.2279C>T n.2277C>T | dbSNP gnomAD v2 gnomAD v4 |
14 | g.91313665G>C | CA487829976 | CCDC88C | c.2151C>G (p.Arg717=) c.2043C>G (p.Arg681=) n.2279C>G n.2277C>G | |
14 | g.91313665G= | CA2154879218 | CCDC88C | c.2151C= (p.Arg717=) c.2043C= (p.Arg681=) n.2279C= n.2277C= | |
14 | g.91313665G>T | CA487829977 | CCDC88C | c.2151C>A (p.Arg717=) c.2043C>A (p.Arg681=) n.2279C>A n.2277C>A | gnomAD v4 |
14 | g.91313666C>A | CA390631292 | CCDC88C | c.2150G>T (p.Arg717Leu) c.2042G>T (p.Arg681Leu) n.2278G>T n.2276G>T | gnomAD v4 |
14 | g.91313666C= | CA2154879222 | CCDC88C | c.2150G= (p.Arg717=) c.2042G= (p.Arg681=) n.2278G= n.2276G= | |
14 | g.91313666C>G | CA390631295 | CCDC88C | c.2150G>C (p.Arg717Pro) c.2042G>C (p.Arg681Pro) n.2278G>C n.2276G>C | gnomAD v4 |
14 | g.91313666C>T | CA7309733 | CCDC88C | c.2150G>A (p.Arg717His) c.2042G>A (p.Arg681His) n.2278G>A n.2276G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
14 | g.91313667G>A | CA7309734 | CCDC88C | c.2149C>T (p.Arg717Cys) c.2041C>T (p.Arg681Cys) n.2277C>T n.2275C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
14 | g.91313667G>C | CA390631298 | CCDC88C | c.2149C>G (p.Arg717Gly) c.2041C>G (p.Arg681Gly) n.2277C>G n.2275C>G | gnomAD v4 |
14 | g.91313667G= | CA2154879225 | CCDC88C | c.2149C= (p.Arg717=) c.2041C= (p.Arg681=) n.2277C= n.2275C= | |
14 | g.91313667G>T | CA390631299 | CCDC88C | c.2149C>A (p.Arg717Ser) c.2041C>A (p.Arg681Ser) n.2277C>A n.2275C>A | gnomAD v4 |
14 | g.91313668C>A | CA390631302 | CCDC88C | c.2148G>T (p.Met716Ile) c.2040G>T (p.Met680Ile) n.2276G>T n.2274G>T | |
14 | g.91313668C= | CA2154879230 | CCDC88C | c.2148G= (p.Met716=) c.2040G= (p.Met680=) n.2276G= n.2274G= | |
14 | g.91313668C>G | CA390631305 | CCDC88C | c.2148G>C (p.Met716Ile) c.2040G>C (p.Met680Ile) n.2276G>C n.2274G>C | |
14 | g.91313668C>T | CA7309735 | CCDC88C | c.2148G>A (p.Met716Ile) c.2040G>A (p.Met680Ile) n.2276G>A n.2274G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |