| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.22272922_22272929delinsAAGCTCAT | CA1957403012 | ANO5 | n.185_192delinsAAGCTCAT c.1718_1725delinsAAGCTCAT (p.Lys573=) c.2126_2133delinsAAGCTCAT (p.Lys709=) n.3162_3169delinsAAGCTCAT c.2123_2130delinsAAGCTCAT (p.Lys708=) c.2168_2175delinsAAGCTCAT (p.Lys723=) n.2503_2510delinsAAGCTCAT c.2165_2172delinsAAGCTCAT (p.Lys722=) c.2090_2097delinsAAGCTCAT (p.Lys697=) c.2087_2094delinsAAGCTCAT (p.Lys696=) c.2075_2082delinsAAGCTCAT (p.Lys692=) | |
| 11 | g.22272926_22272932del | CA201498 | ANO5 | n.189_195del c.1722_1728del (p.His575Ter) c.2130_2136del (p.His711Ter) n.3166_3172del c.2127_2133del (p.His710Ter) c.2172_2178del (p.His725Ter) n.2507_2513del c.2169_2175del (p.His724Ter) c.2094_2100del (p.His699Ter) c.2091_2097del (p.His698Ter) c.2079_2085del (p.His694Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272926T>A | CA473407588 | ANO5 | n.189T>A c.1722T>A (p.Ala574=) c.2130T>A (p.Ala710=) n.3166T>A c.2127T>A (p.Ala709=) c.2172T>A (p.Ala724=) n.2507T>A c.2169T>A (p.Ala723=) c.2094T>A (p.Ala698=) c.2091T>A (p.Ala697=) c.2079T>A (p.Ala693=) | |
| 11 | g.22272926T>C | CA473407590 | ANO5 | n.189T>C c.1722T>C (p.Ala574=) c.2130T>C (p.Ala710=) n.3166T>C c.2127T>C (p.Ala709=) c.2172T>C (p.Ala724=) n.2507T>C c.2169T>C (p.Ala723=) c.2094T>C (p.Ala698=) c.2091T>C (p.Ala697=) c.2079T>C (p.Ala693=) | |
| 11 | g.22272926T>G | CA473407591 | ANO5 | n.189T>G c.1722T>G (p.Ala574=) c.2130T>G (p.Ala710=) n.3166T>G c.2127T>G (p.Ala709=) c.2172T>G (p.Ala724=) n.2507T>G c.2169T>G (p.Ala723=) c.2094T>G (p.Ala698=) c.2091T>G (p.Ala697=) c.2079T>G (p.Ala693=) | |
| 11 | g.22272926T= | CA1957403048 | ANO5 | n.189T= c.1722T= (p.Ala574=) c.2130T= (p.Ala710=) n.3166T= c.2127T= (p.Ala709=) c.2172T= (p.Ala724=) n.2507T= c.2169T= (p.Ala723=) c.2094T= (p.Ala698=) c.2091T= (p.Ala697=) c.2079T= (p.Ala693=) | |
| 11 | g.22272927C>A | CA379923929 | ANO5 | n.190C>A c.1723C>A (p.His575Asn) c.2131C>A (p.His711Asn) n.3167C>A c.2128C>A (p.His710Asn) c.2173C>A (p.His725Asn) n.2508C>A c.2170C>A (p.His724Asn) c.2095C>A (p.His699Asn) c.2092C>A (p.His698Asn) c.2080C>A (p.His694Asn) | ClinVar |
| 11 | g.22272927C>G | CA379923930 | ANO5 | n.190C>G c.1723C>G (p.His575Asp) c.2131C>G (p.His711Asp) n.3167C>G c.2128C>G (p.His710Asp) c.2173C>G (p.His725Asp) n.2508C>G c.2170C>G (p.His724Asp) c.2095C>G (p.His699Asp) c.2092C>G (p.His698Asp) c.2080C>G (p.His694Asp) | |
| 11 | g.22272927C>T | CA379923928 | ANO5 | n.190C>T c.1723C>T (p.His575Tyr) c.2131C>T (p.His711Tyr) n.3167C>T c.2128C>T (p.His710Tyr) c.2173C>T (p.His725Tyr) n.2508C>T c.2170C>T (p.His724Tyr) c.2095C>T (p.His699Tyr) c.2092C>T (p.His698Tyr) c.2080C>T (p.His694Tyr) | |
| 11 | g.22272927_22272928dup | CA674655011 | ANO5 | n.190_191dup c.1723_1724dup (p.Ser576IlefsTer3) c.2131_2132dup (p.Ser712IlefsTer3) n.3167_3168dup c.2128_2129dup (p.Ser711IlefsTer3) c.2173_2174dup (p.Ser726IlefsTer3) n.2508_2509dup c.2170_2171dup (p.Ser725IlefsTer3) c.2095_2096dup (p.Ser700IlefsTer3) c.2092_2093dup (p.Ser699IlefsTer3) c.2080_2081dup (p.Ser695IlefsTer3) | dbSNP gnomAD v4 |
| 11 | g.22272928A= | CA1957403059 | ANO5 | n.191A= c.1724A= (p.His575=) c.2132A= (p.His711=) n.3168A= c.2129A= (p.His710=) c.2174A= (p.His725=) n.2509A= c.2171A= (p.His724=) c.2096A= (p.His699=) c.2093A= (p.His698=) c.2081A= (p.His694=) | |
| 11 | g.22272928A>C | CA379923931 | ANO5 | n.191A>C c.1724A>C (p.His575Pro) c.2132A>C (p.His711Pro) n.3168A>C c.2129A>C (p.His710Pro) c.2174A>C (p.His725Pro) n.2509A>C c.2171A>C (p.His724Pro) c.2096A>C (p.His699Pro) c.2093A>C (p.His698Pro) c.2081A>C (p.His694Pro) | |
| 11 | g.22272928A>G | CA379923932 | ANO5 | n.191A>G c.1724A>G (p.His575Arg) c.2132A>G (p.His711Arg) n.3168A>G c.2129A>G (p.His710Arg) c.2174A>G (p.His725Arg) n.2509A>G c.2171A>G (p.His724Arg) c.2096A>G (p.His699Arg) c.2093A>G (p.His698Arg) c.2081A>G (p.His694Arg) | dbSNP |
| 11 | g.22272928A>T | CA379923933 | ANO5 | n.191A>T c.1724A>T (p.His575Leu) c.2132A>T (p.His711Leu) n.3168A>T c.2129A>T (p.His710Leu) c.2174A>T (p.His725Leu) n.2509A>T c.2171A>T (p.His724Leu) c.2096A>T (p.His699Leu) c.2093A>T (p.His698Leu) c.2081A>T (p.His694Leu) | |
| 11 | g.22272929T>A | CA379923934 | ANO5 | n.192T>A c.1725T>A (p.His575Gln) c.2133T>A (p.His711Gln) n.3169T>A c.2130T>A (p.His710Gln) c.2175T>A (p.His725Gln) n.2510T>A c.2172T>A (p.His724Gln) c.2097T>A (p.His699Gln) c.2094T>A (p.His698Gln) c.2082T>A (p.His694Gln) | |
| 11 | g.22272929T>C | CA16606911 | ANO5 | n.192T>C c.1725T>C (p.His575=) c.2133T>C (p.His711=) n.3169T>C c.2130T>C (p.His710=) c.2175T>C (p.His725=) n.2510T>C c.2172T>C (p.His724=) c.2097T>C (p.His699=) c.2094T>C (p.His698=) c.2082T>C (p.His694=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272929T>G | CA379923935 | ANO5 | n.192T>G c.1725T>G (p.His575Gln) c.2133T>G (p.His711Gln) n.3169T>G c.2130T>G (p.His710Gln) c.2175T>G (p.His725Gln) n.2510T>G c.2172T>G (p.His724Gln) c.2097T>G (p.His699Gln) c.2094T>G (p.His698Gln) c.2082T>G (p.His694Gln) | |
| 11 | g.22272929T= | CA1957403062 | ANO5 | n.192T= c.1725T= (p.His575=) c.2133T= (p.His711=) n.3169T= c.2130T= (p.His710=) c.2175T= (p.His725=) n.2510T= c.2172T= (p.His724=) c.2097T= (p.His699=) c.2094T= (p.His698=) c.2082T= (p.His694=) | |
| 11 | g.22272930A= | CA1957403082 | ANO5 | n.193A= c.1726A= (p.Ser576=) c.2134A= (p.Ser712=) n.3170A= c.2131A= (p.Ser711=) c.2176A= (p.Ser726=) n.2511A= c.2173A= (p.Ser725=) c.2098A= (p.Ser700=) c.2095A= (p.Ser699=) c.2083A= (p.Ser695=) | |
| 11 | g.22272930A>C | CA379923938 | ANO5 | n.193A>C c.1726A>C (p.Ser576Arg) c.2134A>C (p.Ser712Arg) n.3170A>C c.2131A>C (p.Ser711Arg) c.2176A>C (p.Ser726Arg) n.2511A>C c.2173A>C (p.Ser725Arg) c.2098A>C (p.Ser700Arg) c.2095A>C (p.Ser699Arg) c.2083A>C (p.Ser695Arg) | |
| 11 | g.22272930A>G | CA379923936 | ANO5 | n.193A>G c.1726A>G (p.Ser576Gly) c.2134A>G (p.Ser712Gly) n.3170A>G c.2131A>G (p.Ser711Gly) c.2176A>G (p.Ser726Gly) n.2511A>G c.2173A>G (p.Ser725Gly) c.2098A>G (p.Ser700Gly) c.2095A>G (p.Ser699Gly) c.2083A>G (p.Ser695Gly) | |
| 11 | g.22272930A>T | CA379923937 | ANO5 | n.193A>T c.1726A>T (p.Ser576Cys) c.2134A>T (p.Ser712Cys) n.3170A>T c.2131A>T (p.Ser711Cys) c.2176A>T (p.Ser726Cys) n.2511A>T c.2173A>T (p.Ser725Cys) c.2098A>T (p.Ser700Cys) c.2095A>T (p.Ser699Cys) c.2083A>T (p.Ser695Cys) | |
| 11 | g.22272930dup | CA201499 | ANO5 | n.193dup c.1726dup (p.Ser576LysfsTer20) c.2134dup (p.Ser712LysfsTer20) n.3170dup c.2131dup (p.Ser711LysfsTer20) c.2176dup (p.Ser726LysfsTer20) n.2511dup c.2173dup (p.Ser725LysfsTer20) c.2098dup (p.Ser700LysfsTer20) c.2095dup (p.Ser699LysfsTer20) c.2083dup (p.Ser695LysfsTer20) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272931G>A | CA379923939 | ANO5 | n.194G>A c.1727G>A (p.Ser576Asn) c.2135G>A (p.Ser712Asn) n.3171G>A c.2132G>A (p.Ser711Asn) c.2177G>A (p.Ser726Asn) n.2512G>A c.2174G>A (p.Ser725Asn) c.2099G>A (p.Ser700Asn) c.2096G>A (p.Ser699Asn) c.2084G>A (p.Ser695Asn) | dbSNP gnomAD v4 COSMIC |
| 11 | g.22272931G>C | CA379923940 | ANO5 | n.194G>C c.1727G>C (p.Ser576Thr) c.2135G>C (p.Ser712Thr) n.3171G>C c.2132G>C (p.Ser711Thr) c.2177G>C (p.Ser726Thr) n.2512G>C c.2174G>C (p.Ser725Thr) c.2099G>C (p.Ser700Thr) c.2096G>C (p.Ser699Thr) c.2084G>C (p.Ser695Thr) | |
| 11 | g.22272931G= | CA1957403083 | ANO5 | n.194G= c.1727G= (p.Ser576=) c.2135G= (p.Ser712=) n.3171G= c.2132G= (p.Ser711=) c.2177G= (p.Ser726=) n.2512G= c.2174G= (p.Ser725=) c.2099G= (p.Ser700=) c.2096G= (p.Ser699=) c.2084G= (p.Ser695=) | |
| 11 | g.22272931G>T | CA379923941 | ANO5 | n.194G>T c.1727G>T (p.Ser576Ile) c.2135G>T (p.Ser712Ile) n.3171G>T c.2132G>T (p.Ser711Ile) c.2177G>T (p.Ser726Ile) n.2512G>T c.2174G>T (p.Ser725Ile) c.2099G>T (p.Ser700Ile) c.2096G>T (p.Ser699Ile) c.2084G>T (p.Ser695Ile) | |
| 11 | g.22272931_22272932dup | CA674655034 | ANO5 | n.194_195dup c.1727_1728dup (p.Ile577AlafsTer2) c.2135_2136dup (p.Ile713AlafsTer2) n.3171_3172dup c.2132_2133dup (p.Ile712AlafsTer2) c.2177_2178dup (p.Ile727AlafsTer2) n.2512_2513dup c.2174_2175dup (p.Ile726AlafsTer2) c.2099_2100dup (p.Ile701AlafsTer2) c.2096_2097dup (p.Ile700AlafsTer2) c.2084_2085dup (p.Ile696AlafsTer2) | dbSNP |
| 11 | g.22272932C>A | CA379923942 | ANO5 | n.195C>A c.1728C>A (p.Ser576Arg) c.2136C>A (p.Ser712Arg) n.3172C>A c.2133C>A (p.Ser711Arg) c.2178C>A (p.Ser726Arg) n.2513C>A c.2175C>A (p.Ser725Arg) c.2100C>A (p.Ser700Arg) c.2097C>A (p.Ser699Arg) c.2085C>A (p.Ser695Arg) | dbSNP |
| 11 | g.22272932C= | CA1957403084 | ANO5 | n.195C= c.1728C= (p.Ser576=) c.2136C= (p.Ser712=) n.3172C= c.2133C= (p.Ser711=) c.2178C= (p.Ser726=) n.2513C= c.2175C= (p.Ser725=) c.2100C= (p.Ser700=) c.2097C= (p.Ser699=) c.2085C= (p.Ser695=) | |
| 11 | g.22272932C>G | CA379923943 | ANO5 | n.195C>G c.1728C>G (p.Ser576Arg) c.2136C>G (p.Ser712Arg) n.3172C>G c.2133C>G (p.Ser711Arg) c.2178C>G (p.Ser726Arg) n.2513C>G c.2175C>G (p.Ser725Arg) c.2100C>G (p.Ser700Arg) c.2097C>G (p.Ser699Arg) c.2085C>G (p.Ser695Arg) | |
| 11 | g.22272932C>T | CA473407598 | ANO5 | n.195C>T c.1728C>T (p.Ser576=) c.2136C>T (p.Ser712=) n.3172C>T c.2133C>T (p.Ser711=) c.2178C>T (p.Ser726=) n.2513C>T c.2175C>T (p.Ser725=) c.2100C>T (p.Ser700=) c.2097C>T (p.Ser699=) c.2085C>T (p.Ser695=) | |
| 11 | g.22272933A= | CA1957403085 | ANO5 | n.196A= c.1729A= (p.Ile577=) c.2137A= (p.Ile713=) n.3173A= c.2134A= (p.Ile712=) c.2179A= (p.Ile727=) n.2514A= c.2176A= (p.Ile726=) c.2101A= (p.Ile701=) c.2098A= (p.Ile700=) c.2086A= (p.Ile696=) | |
| 11 | g.22272933A>C | CA379923944 | ANO5 | n.196A>C c.1729A>C (p.Ile577Leu) c.2137A>C (p.Ile713Leu) n.3173A>C c.2134A>C (p.Ile712Leu) c.2179A>C (p.Ile727Leu) n.2514A>C c.2176A>C (p.Ile726Leu) c.2101A>C (p.Ile701Leu) c.2098A>C (p.Ile700Leu) c.2086A>C (p.Ile696Leu) | |
| 11 | g.22272933A>G | CA218775888 | ANO5 | n.196A>G c.1729A>G (p.Ile577Val) c.2137A>G (p.Ile713Val) n.3173A>G c.2134A>G (p.Ile712Val) c.2179A>G (p.Ile727Val) n.2514A>G c.2176A>G (p.Ile726Val) c.2101A>G (p.Ile701Val) c.2098A>G (p.Ile700Val) c.2086A>G (p.Ile696Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22272933A>T | CA379923945 | ANO5 | n.196A>T c.1729A>T (p.Ile577Leu) c.2137A>T (p.Ile713Leu) n.3173A>T c.2134A>T (p.Ile712Leu) c.2179A>T (p.Ile727Leu) n.2514A>T c.2176A>T (p.Ile726Leu) c.2101A>T (p.Ile701Leu) c.2098A>T (p.Ile700Leu) c.2086A>T (p.Ile696Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.22272934T>A | CA379923946 | ANO5 | n.197T>A c.1730T>A (p.Ile577Lys) c.2138T>A (p.Ile713Lys) n.3174T>A c.2135T>A (p.Ile712Lys) c.2180T>A (p.Ile727Lys) n.2515T>A c.2177T>A (p.Ile726Lys) c.2102T>A (p.Ile701Lys) c.2099T>A (p.Ile700Lys) c.2087T>A (p.Ile696Lys) | |
| 11 | g.22272934T>C | CA5923468 | ANO5 | n.197T>C c.1730T>C (p.Ile577Thr) c.2138T>C (p.Ile713Thr) n.3174T>C c.2135T>C (p.Ile712Thr) c.2180T>C (p.Ile727Thr) n.2515T>C c.2177T>C (p.Ile726Thr) c.2102T>C (p.Ile701Thr) c.2099T>C (p.Ile700Thr) c.2087T>C (p.Ile696Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22272934T>G | CA379923947 | ANO5 | n.197T>G c.1730T>G (p.Ile577Arg) c.2138T>G (p.Ile713Arg) n.3174T>G c.2135T>G (p.Ile712Arg) c.2180T>G (p.Ile727Arg) n.2515T>G c.2177T>G (p.Ile726Arg) c.2102T>G (p.Ile701Arg) c.2099T>G (p.Ile700Arg) c.2087T>G (p.Ile696Arg) | |
| 11 | g.22272934T= | CA1957403086 | ANO5 | n.197T= c.1730T= (p.Ile577=) c.2138T= (p.Ile713=) n.3174T= c.2135T= (p.Ile712=) c.2180T= (p.Ile727=) n.2515T= c.2177T= (p.Ile726=) c.2102T= (p.Ile701=) c.2099T= (p.Ile700=) c.2087T= (p.Ile696=) | |
| 11 | g.22272935A>C | CA473407604 | ANO5 | n.198A>C c.1731A>C (p.Ile577=) c.2139A>C (p.Ile713=) n.3175A>C c.2136A>C (p.Ile712=) c.2181A>C (p.Ile727=) n.2516A>C c.2178A>C (p.Ile726=) c.2103A>C (p.Ile701=) c.2100A>C (p.Ile700=) c.2088A>C (p.Ile696=) | |
| 11 | g.22272935A>G | CA379923948 | ANO5 | n.198A>G c.1731A>G (p.Ile577Met) c.2139A>G (p.Ile713Met) n.3175A>G c.2136A>G (p.Ile712Met) c.2181A>G (p.Ile727Met) n.2516A>G c.2178A>G (p.Ile726Met) c.2103A>G (p.Ile701Met) c.2100A>G (p.Ile700Met) c.2088A>G (p.Ile696Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.22272935A>T | CA473407603 | ANO5 | n.198A>T c.1731A>T (p.Ile577=) c.2139A>T (p.Ile713=) n.3175A>T c.2136A>T (p.Ile712=) c.2181A>T (p.Ile727=) n.2516A>T c.2178A>T (p.Ile726=) c.2103A>T (p.Ile701=) c.2100A>T (p.Ile700=) c.2088A>T (p.Ile696=) | |
| 11 | g.22272936G>A | CA379923949 | ANO5 | n.199G>A c.1732G>A (p.Gly578Ser) c.2140G>A (p.Gly714Ser) n.3176G>A c.2137G>A (p.Gly713Ser) c.2182G>A (p.Gly728Ser) n.2517G>A c.2179G>A (p.Gly727Ser) c.2104G>A (p.Gly702Ser) c.2101G>A (p.Gly701Ser) c.2089G>A (p.Gly697Ser) | gnomAD v4 |
| 11 | g.22272936G>C | CA379923950 | ANO5 | n.199G>C c.1732G>C (p.Gly578Arg) c.2140G>C (p.Gly714Arg) n.3176G>C c.2137G>C (p.Gly713Arg) c.2182G>C (p.Gly728Arg) n.2517G>C c.2179G>C (p.Gly727Arg) c.2104G>C (p.Gly702Arg) c.2101G>C (p.Gly701Arg) c.2089G>C (p.Gly697Arg) | |
| 11 | g.22272936G>T | CA379923951 | ANO5 | n.199G>T c.1732G>T (p.Gly578Cys) c.2140G>T (p.Gly714Cys) n.3176G>T c.2137G>T (p.Gly713Cys) c.2182G>T (p.Gly728Cys) n.2517G>T c.2179G>T (p.Gly727Cys) c.2104G>T (p.Gly702Cys) c.2101G>T (p.Gly701Cys) c.2089G>T (p.Gly697Cys) | |
| 11 | g.22272937G>A | CA5923469 | ANO5 | n.200G>A c.1733G>A (p.Gly578Asp) c.2141G>A (p.Gly714Asp) n.3177G>A c.2138G>A (p.Gly713Asp) c.2183G>A (p.Gly728Asp) n.2518G>A c.2180G>A (p.Gly727Asp) c.2105G>A (p.Gly702Asp) c.2102G>A (p.Gly701Asp) c.2090G>A (p.Gly697Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.22272937G>C | CA379923952 | ANO5 | n.200G>C c.1733G>C (p.Gly578Ala) c.2141G>C (p.Gly714Ala) n.3177G>C c.2138G>C (p.Gly713Ala) c.2183G>C (p.Gly728Ala) n.2518G>C c.2180G>C (p.Gly727Ala) c.2105G>C (p.Gly702Ala) c.2102G>C (p.Gly701Ala) c.2090G>C (p.Gly697Ala) | |
| 11 | g.22272937G= | CA1957403087 | ANO5 | n.200G= c.1733G= (p.Gly578=) c.2141G= (p.Gly714=) n.3177G= c.2138G= (p.Gly713=) c.2183G= (p.Gly728=) n.2518G= c.2180G= (p.Gly727=) c.2105G= (p.Gly702=) c.2102G= (p.Gly701=) c.2090G= (p.Gly697=) | |
| 11 | g.22272937G>T | CA379923953 | ANO5 | n.200G>T c.1733G>T (p.Gly578Val) c.2141G>T (p.Gly714Val) n.3177G>T c.2138G>T (p.Gly713Val) c.2183G>T (p.Gly728Val) n.2518G>T c.2180G>T (p.Gly727Val) c.2105G>T (p.Gly702Val) c.2102G>T (p.Gly701Val) c.2090G>T (p.Gly697Val) |