Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41531106C>ACA412990277CASKc.2370G>T (p.Glu790Asp)
c.2367G>T (p.Glu789Asp)
c.2421G>T (p.Glu807Asp)
c.2319G>T (p.Glu773Asp)
c.2424G>T (p.Glu808Asp)
c.1041G>T (p.Glu347Asp)
c.2352G>T (p.Glu784Asp)
c.2283G>T (p.Glu761Asp)
n.1200G>T
c.193G>T
c.2403G>T (p.Glu801Asp)
c.2334G>T (p.Glu778Asp)
c.2406G>T (p.Glu802Asp)
n.2652G>T
c.2388G>T (p.Glu796Asp)
c.1743G>T (p.Glu581Asp)
c.2337G>T (p.Glu779Asp)
c.2355G>T (p.Glu785Asp)
c.786G>T (p.Glu262Asp)
c.1197G>T (p.Glu399Asp)
c.2298G>T (p.Glu766Asp)
c.2385G>T (p.Glu795Asp)
c.2316G>T (p.Glu772Asp)
c.1848G>T (p.Glu616Asp)
Xg.41531106C>GCA412990275CASKc.2370G>C (p.Glu790Asp)
c.2367G>C (p.Glu789Asp)
c.2421G>C (p.Glu807Asp)
c.2319G>C (p.Glu773Asp)
c.2424G>C (p.Glu808Asp)
c.1041G>C (p.Glu347Asp)
c.2352G>C (p.Glu784Asp)
c.2283G>C (p.Glu761Asp)
n.1200G>C
c.193G>C
c.2403G>C (p.Glu801Asp)
c.2334G>C (p.Glu778Asp)
c.2406G>C (p.Glu802Asp)
n.2652G>C
c.2388G>C (p.Glu796Asp)
c.1743G>C (p.Glu581Asp)
c.2337G>C (p.Glu779Asp)
c.2355G>C (p.Glu785Asp)
c.786G>C (p.Glu262Asp)
c.1197G>C (p.Glu399Asp)
c.2298G>C (p.Glu766Asp)
c.2385G>C (p.Glu795Asp)
c.2316G>C (p.Glu772Asp)
c.1848G>C (p.Glu616Asp)
Xg.41531106C>TCA516099234CASKc.2370G>A (p.Glu790=)
c.2367G>A (p.Glu789=)
c.2421G>A (p.Glu807=)
c.2319G>A (p.Glu773=)
c.2424G>A (p.Glu808=)
c.1041G>A (p.Glu347=)
c.2352G>A (p.Glu784=)
c.2283G>A (p.Glu761=)
n.1200G>A
c.193G>A
c.2403G>A (p.Glu801=)
c.2334G>A (p.Glu778=)
c.2406G>A (p.Glu802=)
n.2652G>A
c.2388G>A (p.Glu796=)
c.1743G>A (p.Glu581=)
c.2337G>A (p.Glu779=)
c.2355G>A (p.Glu785=)
c.786G>A (p.Glu262=)
c.1197G>A (p.Glu399=)
c.2298G>A (p.Glu766=)
c.2385G>A (p.Glu795=)
c.2316G>A (p.Glu772=)
c.1848G>A (p.Glu616=)
Xg.41531107T>ACA412990278CASKc.2369A>T (p.Glu790Val)
c.2366A>T (p.Glu789Val)
c.2420A>T (p.Glu807Val)
c.2318A>T (p.Glu773Val)
c.2423A>T (p.Glu808Val)
c.1040A>T (p.Glu347Val)
c.2351A>T (p.Glu784Val)
c.2282A>T (p.Glu761Val)
n.1199A>T
c.192A>T
c.2402A>T (p.Glu801Val)
c.2333A>T (p.Glu778Val)
c.2405A>T (p.Glu802Val)
n.2651A>T
c.2387A>T (p.Glu796Val)
c.1742A>T (p.Glu581Val)
c.2336A>T (p.Glu779Val)
c.2354A>T (p.Glu785Val)
c.785A>T (p.Glu262Val)
c.1196A>T (p.Glu399Val)
c.2297A>T (p.Glu766Val)
c.2384A>T (p.Glu795Val)
c.2315A>T (p.Glu772Val)
c.1847A>T (p.Glu616Val)
Xg.41531107T>CCA412990279CASKc.2369A>G (p.Glu790Gly)
c.2366A>G (p.Glu789Gly)
c.2420A>G (p.Glu807Gly)
c.2318A>G (p.Glu773Gly)
c.2423A>G (p.Glu808Gly)
c.1040A>G (p.Glu347Gly)
c.2351A>G (p.Glu784Gly)
c.2282A>G (p.Glu761Gly)
n.1199A>G
c.192A>G
c.2402A>G (p.Glu801Gly)
c.2333A>G (p.Glu778Gly)
c.2405A>G (p.Glu802Gly)
n.2651A>G
c.2387A>G (p.Glu796Gly)
c.1742A>G (p.Glu581Gly)
c.2336A>G (p.Glu779Gly)
c.2354A>G (p.Glu785Gly)
c.785A>G (p.Glu262Gly)
c.1196A>G (p.Glu399Gly)
c.2297A>G (p.Glu766Gly)
c.2384A>G (p.Glu795Gly)
c.2315A>G (p.Glu772Gly)
c.1847A>G (p.Glu616Gly)
Xg.41531107T>GCA412990281CASKc.2369A>C (p.Glu790Ala)
c.2366A>C (p.Glu789Ala)
c.2420A>C (p.Glu807Ala)
c.2318A>C (p.Glu773Ala)
c.2423A>C (p.Glu808Ala)
c.1040A>C (p.Glu347Ala)
c.2351A>C (p.Glu784Ala)
c.2282A>C (p.Glu761Ala)
n.1199A>C
c.192A>C
c.2402A>C (p.Glu801Ala)
c.2333A>C (p.Glu778Ala)
c.2405A>C (p.Glu802Ala)
n.2651A>C
c.2387A>C (p.Glu796Ala)
c.1742A>C (p.Glu581Ala)
c.2336A>C (p.Glu779Ala)
c.2354A>C (p.Glu785Ala)
c.785A>C (p.Glu262Ala)
c.1196A>C (p.Glu399Ala)
c.2297A>C (p.Glu766Ala)
c.2384A>C (p.Glu795Ala)
c.2315A>C (p.Glu772Ala)
c.1847A>C (p.Glu616Ala)
Xg.41531108C>ACA412990283CASKc.2368G>T (p.Glu790Ter)
c.2365G>T (p.Glu789Ter)
c.2419G>T (p.Glu807Ter)
c.2317G>T (p.Glu773Ter)
c.2422G>T (p.Glu808Ter)
c.1039G>T (p.Glu347Ter)
c.2350G>T (p.Glu784Ter)
c.2281G>T (p.Glu761Ter)
n.1198G>T
c.191G>T
c.2401G>T (p.Glu801Ter)
c.2332G>T (p.Glu778Ter)
c.2404G>T (p.Glu802Ter)
n.2650G>T
c.2386G>T (p.Glu796Ter)
c.1741G>T (p.Glu581Ter)
c.2335G>T (p.Glu779Ter)
c.2353G>T (p.Glu785Ter)
c.784G>T (p.Glu262Ter)
c.1195G>T (p.Glu399Ter)
c.2296G>T (p.Glu766Ter)
c.2383G>T (p.Glu795Ter)
c.2314G>T (p.Glu772Ter)
c.1846G>T (p.Glu616Ter)
Xg.41531108C>GCA412990285CASKc.2368G>C (p.Glu790Gln)
c.2365G>C (p.Glu789Gln)
c.2419G>C (p.Glu807Gln)
c.2317G>C (p.Glu773Gln)
c.2422G>C (p.Glu808Gln)
c.1039G>C (p.Glu347Gln)
c.2350G>C (p.Glu784Gln)
c.2281G>C (p.Glu761Gln)
n.1198G>C
c.191G>C
c.2401G>C (p.Glu801Gln)
c.2332G>C (p.Glu778Gln)
c.2404G>C (p.Glu802Gln)
n.2650G>C
c.2386G>C (p.Glu796Gln)
c.1741G>C (p.Glu581Gln)
c.2335G>C (p.Glu779Gln)
c.2353G>C (p.Glu785Gln)
c.784G>C (p.Glu262Gln)
c.1195G>C (p.Glu399Gln)
c.2296G>C (p.Glu766Gln)
c.2383G>C (p.Glu795Gln)
c.2314G>C (p.Glu772Gln)
c.1846G>C (p.Glu616Gln)
Xg.41531108C>TCA412990286CASKc.2368G>A (p.Glu790Lys)
c.2365G>A (p.Glu789Lys)
c.2419G>A (p.Glu807Lys)
c.2317G>A (p.Glu773Lys)
c.2422G>A (p.Glu808Lys)
c.1039G>A (p.Glu347Lys)
c.2350G>A (p.Glu784Lys)
c.2281G>A (p.Glu761Lys)
n.1198G>A
c.191G>A
c.2401G>A (p.Glu801Lys)
c.2332G>A (p.Glu778Lys)
c.2404G>A (p.Glu802Lys)
n.2650G>A
c.2386G>A (p.Glu796Lys)
c.1741G>A (p.Glu581Lys)
c.2335G>A (p.Glu779Lys)
c.2353G>A (p.Glu785Lys)
c.784G>A (p.Glu262Lys)
c.1195G>A (p.Glu399Lys)
c.2296G>A (p.Glu766Lys)
c.2383G>A (p.Glu795Lys)
c.2314G>A (p.Glu772Lys)
c.1846G>A (p.Glu616Lys)
Xg.41531109C>ACA412990288CASKc.2367G>T (p.Leu789Phe)
c.2364G>T (p.Leu788Phe)
c.2418G>T (p.Leu806Phe)
c.2316G>T (p.Leu772Phe)
c.2421G>T (p.Leu807Phe)
c.1038G>T (p.Leu346Phe)
c.2349G>T (p.Leu783Phe)
c.2280G>T (p.Leu760Phe)
n.1197G>T
c.190G>T
c.2400G>T (p.Leu800Phe)
c.2331G>T (p.Leu777Phe)
c.2403G>T (p.Leu801Phe)
n.2649G>T
c.2385G>T (p.Leu795Phe)
c.1740G>T (p.Leu580Phe)
c.2334G>T (p.Leu778Phe)
c.2352G>T (p.Leu784Phe)
c.783G>T (p.Leu261Phe)
c.1194G>T (p.Leu398Phe)
c.2295G>T (p.Leu765Phe)
c.2382G>T (p.Leu794Phe)
c.2313G>T (p.Leu771Phe)
c.1845G>T (p.Leu615Phe)
Xg.41531109C>GCA412990290CASKc.2367G>C (p.Leu789Phe)
c.2364G>C (p.Leu788Phe)
c.2418G>C (p.Leu806Phe)
c.2316G>C (p.Leu772Phe)
c.2421G>C (p.Leu807Phe)
c.1038G>C (p.Leu346Phe)
c.2349G>C (p.Leu783Phe)
c.2280G>C (p.Leu760Phe)
n.1197G>C
c.190G>C
c.2400G>C (p.Leu800Phe)
c.2331G>C (p.Leu777Phe)
c.2403G>C (p.Leu801Phe)
n.2649G>C
c.2385G>C (p.Leu795Phe)
c.1740G>C (p.Leu580Phe)
c.2334G>C (p.Leu778Phe)
c.2352G>C (p.Leu784Phe)
c.783G>C (p.Leu261Phe)
c.1194G>C (p.Leu398Phe)
c.2295G>C (p.Leu765Phe)
c.2382G>C (p.Leu794Phe)
c.2313G>C (p.Leu771Phe)
c.1845G>C (p.Leu615Phe)
Xg.41531109C>TCA516099243CASKc.2367G>A (p.Leu789=)
c.2364G>A (p.Leu788=)
c.2418G>A (p.Leu806=)
c.2316G>A (p.Leu772=)
c.2421G>A (p.Leu807=)
c.1038G>A (p.Leu346=)
c.2349G>A (p.Leu783=)
c.2280G>A (p.Leu760=)
n.1197G>A
c.190G>A
c.2400G>A (p.Leu800=)
c.2331G>A (p.Leu777=)
c.2403G>A (p.Leu801=)
n.2649G>A
c.2385G>A (p.Leu795=)
c.1740G>A (p.Leu580=)
c.2334G>A (p.Leu778=)
c.2352G>A (p.Leu784=)
c.783G>A (p.Leu261=)
c.1194G>A (p.Leu398=)
c.2295G>A (p.Leu765=)
c.2382G>A (p.Leu794=)
c.2313G>A (p.Leu771=)
c.1845G>A (p.Leu615=)
Xg.41531110A>CCA412990292CASKc.2366T>G (p.Leu789Trp)
c.2363T>G (p.Leu788Trp)
c.2417T>G (p.Leu806Trp)
c.2315T>G (p.Leu772Trp)
c.2420T>G (p.Leu807Trp)
c.1037T>G (p.Leu346Trp)
c.2348T>G (p.Leu783Trp)
c.2279T>G (p.Leu760Trp)
n.1196T>G
c.189T>G
c.2399T>G (p.Leu800Trp)
c.2330T>G (p.Leu777Trp)
c.2402T>G (p.Leu801Trp)
n.2648T>G
c.2384T>G (p.Leu795Trp)
c.1739T>G (p.Leu580Trp)
c.2333T>G (p.Leu778Trp)
c.2351T>G (p.Leu784Trp)
c.782T>G (p.Leu261Trp)
c.1193T>G (p.Leu398Trp)
c.2294T>G (p.Leu765Trp)
c.2381T>G (p.Leu794Trp)
c.2312T>G (p.Leu771Trp)
c.1844T>G (p.Leu615Trp)
Xg.41531110A>GCA412990295CASKc.2366T>C (p.Leu789Ser)
c.2363T>C (p.Leu788Ser)
c.2417T>C (p.Leu806Ser)
c.2315T>C (p.Leu772Ser)
c.2420T>C (p.Leu807Ser)
c.1037T>C (p.Leu346Ser)
c.2348T>C (p.Leu783Ser)
c.2279T>C (p.Leu760Ser)
n.1196T>C
c.189T>C
c.2399T>C (p.Leu800Ser)
c.2330T>C (p.Leu777Ser)
c.2402T>C (p.Leu801Ser)
n.2648T>C
c.2384T>C (p.Leu795Ser)
c.1739T>C (p.Leu580Ser)
c.2333T>C (p.Leu778Ser)
c.2351T>C (p.Leu784Ser)
c.782T>C (p.Leu261Ser)
c.1193T>C (p.Leu398Ser)
c.2294T>C (p.Leu765Ser)
c.2381T>C (p.Leu794Ser)
c.2312T>C (p.Leu771Ser)
c.1844T>C (p.Leu615Ser)
 gnomAD v4
Xg.41531110A>TCA412990293CASKc.2366T>A (p.Leu789Ter)
c.2363T>A (p.Leu788Ter)
c.2417T>A (p.Leu806Ter)
c.2315T>A (p.Leu772Ter)
c.2420T>A (p.Leu807Ter)
c.1037T>A (p.Leu346Ter)
c.2348T>A (p.Leu783Ter)
c.2279T>A (p.Leu760Ter)
n.1196T>A
c.189T>A
c.2399T>A (p.Leu800Ter)
c.2330T>A (p.Leu777Ter)
c.2402T>A (p.Leu801Ter)
n.2648T>A
c.2384T>A (p.Leu795Ter)
c.1739T>A (p.Leu580Ter)
c.2333T>A (p.Leu778Ter)
c.2351T>A (p.Leu784Ter)
c.782T>A (p.Leu261Ter)
c.1193T>A (p.Leu398Ter)
c.2294T>A (p.Leu765Ter)
c.2381T>A (p.Leu794Ter)
c.2312T>A (p.Leu771Ter)
c.1844T>A (p.Leu615Ter)
Xg.41531111A>CCA412990297CASKc.2365T>G (p.Leu789Val)
c.2362T>G (p.Leu788Val)
c.2416T>G (p.Leu806Val)
c.2314T>G (p.Leu772Val)
c.2419T>G (p.Leu807Val)
c.1036T>G (p.Leu346Val)
c.2347T>G (p.Leu783Val)
c.2278T>G (p.Leu760Val)
n.1195T>G
c.188T>G
c.2398T>G (p.Leu800Val)
c.2329T>G (p.Leu777Val)
c.2401T>G (p.Leu801Val)
n.2647T>G
c.2383T>G (p.Leu795Val)
c.1738T>G (p.Leu580Val)
c.2332T>G (p.Leu778Val)
c.2350T>G (p.Leu784Val)
c.781T>G (p.Leu261Val)
c.1192T>G (p.Leu398Val)
c.2293T>G (p.Leu765Val)
c.2380T>G (p.Leu794Val)
c.2311T>G (p.Leu771Val)
c.1843T>G (p.Leu615Val)
Xg.41531111A>GCA516099261CASKc.2365T>C (p.Leu789=)
c.2362T>C (p.Leu788=)
c.2416T>C (p.Leu806=)
c.2314T>C (p.Leu772=)
c.2419T>C (p.Leu807=)
c.1036T>C (p.Leu346=)
c.2347T>C (p.Leu783=)
c.2278T>C (p.Leu760=)
n.1195T>C
c.188T>C
c.2398T>C (p.Leu800=)
c.2329T>C (p.Leu777=)
c.2401T>C (p.Leu801=)
n.2647T>C
c.2383T>C (p.Leu795=)
c.1738T>C (p.Leu580=)
c.2332T>C (p.Leu778=)
c.2350T>C (p.Leu784=)
c.781T>C (p.Leu261=)
c.1192T>C (p.Leu398=)
c.2293T>C (p.Leu765=)
c.2380T>C (p.Leu794=)
c.2311T>C (p.Leu771=)
c.1843T>C (p.Leu615=)
Xg.41531111A>TCA412990299CASKc.2365T>A (p.Leu789Met)
c.2362T>A (p.Leu788Met)
c.2416T>A (p.Leu806Met)
c.2314T>A (p.Leu772Met)
c.2419T>A (p.Leu807Met)
c.1036T>A (p.Leu346Met)
c.2347T>A (p.Leu783Met)
c.2278T>A (p.Leu760Met)
n.1195T>A
c.188T>A
c.2398T>A (p.Leu800Met)
c.2329T>A (p.Leu777Met)
c.2401T>A (p.Leu801Met)
n.2647T>A
c.2383T>A (p.Leu795Met)
c.1738T>A (p.Leu580Met)
c.2332T>A (p.Leu778Met)
c.2350T>A (p.Leu784Met)
c.781T>A (p.Leu261Met)
c.1192T>A (p.Leu398Met)
c.2293T>A (p.Leu765Met)
c.2380T>A (p.Leu794Met)
c.2311T>A (p.Leu771Met)
c.1843T>A (p.Leu615Met)
Xg.41531112G>ACA516099265CASKc.2364C>T (p.Tyr788=)
c.2361C>T (p.Tyr787=)
c.2415C>T (p.Tyr805=)
c.2313C>T (p.Tyr771=)
c.2418C>T (p.Tyr806=)
c.1035C>T (p.Tyr345=)
c.2346C>T (p.Tyr782=)
c.2277C>T (p.Tyr759=)
n.1194C>T
c.187C>T
c.2397C>T (p.Tyr799=)
c.2328C>T (p.Tyr776=)
c.2400C>T (p.Tyr800=)
n.2646C>T
c.2382C>T (p.Tyr794=)
c.1737C>T (p.Tyr579=)
c.2331C>T (p.Tyr777=)
c.2349C>T (p.Tyr783=)
c.780C>T (p.Tyr260=)
c.1191C>T (p.Tyr397=)
c.2292C>T (p.Tyr764=)
c.2379C>T (p.Tyr793=)
c.2310C>T (p.Tyr770=)
c.1842C>T (p.Tyr614=)
Xg.41531112G>CCA412990301CASKc.2364C>G (p.Tyr788Ter)
c.2361C>G (p.Tyr787Ter)
c.2415C>G (p.Tyr805Ter)
c.2313C>G (p.Tyr771Ter)
c.2418C>G (p.Tyr806Ter)
c.1035C>G (p.Tyr345Ter)
c.2346C>G (p.Tyr782Ter)
c.2277C>G (p.Tyr759Ter)
n.1194C>G
c.187C>G
c.2397C>G (p.Tyr799Ter)
c.2328C>G (p.Tyr776Ter)
c.2400C>G (p.Tyr800Ter)
n.2646C>G
c.2382C>G (p.Tyr794Ter)
c.1737C>G (p.Tyr579Ter)
c.2331C>G (p.Tyr777Ter)
c.2349C>G (p.Tyr783Ter)
c.780C>G (p.Tyr260Ter)
c.1191C>G (p.Tyr397Ter)
c.2292C>G (p.Tyr764Ter)
c.2379C>G (p.Tyr793Ter)
c.2310C>G (p.Tyr770Ter)
c.1842C>G (p.Tyr614Ter)
Xg.41531112G>TCA412990302CASKc.2364C>A (p.Tyr788Ter)
c.2361C>A (p.Tyr787Ter)
c.2415C>A (p.Tyr805Ter)
c.2313C>A (p.Tyr771Ter)
c.2418C>A (p.Tyr806Ter)
c.1035C>A (p.Tyr345Ter)
c.2346C>A (p.Tyr782Ter)
c.2277C>A (p.Tyr759Ter)
n.1194C>A
c.187C>A
c.2397C>A (p.Tyr799Ter)
c.2328C>A (p.Tyr776Ter)
c.2400C>A (p.Tyr800Ter)
n.2646C>A
c.2382C>A (p.Tyr794Ter)
c.1737C>A (p.Tyr579Ter)
c.2331C>A (p.Tyr777Ter)
c.2349C>A (p.Tyr783Ter)
c.780C>A (p.Tyr260Ter)
c.1191C>A (p.Tyr397Ter)
c.2292C>A (p.Tyr764Ter)
c.2379C>A (p.Tyr793Ter)
c.2310C>A (p.Tyr770Ter)
c.1842C>A (p.Tyr614Ter)
 gnomAD v4
Xg.41531113T>ACA412990305CASKc.2363A>T (p.Tyr788Phe)
c.2360A>T (p.Tyr787Phe)
c.2414A>T (p.Tyr805Phe)
c.2312A>T (p.Tyr771Phe)
c.2417A>T (p.Tyr806Phe)
c.1034A>T (p.Tyr345Phe)
c.2345A>T (p.Tyr782Phe)
c.2276A>T (p.Tyr759Phe)
n.1193A>T
c.186A>T
c.2396A>T (p.Tyr799Phe)
c.2327A>T (p.Tyr776Phe)
c.2399A>T (p.Tyr800Phe)
n.2645A>T
c.2381A>T (p.Tyr794Phe)
c.1736A>T (p.Tyr579Phe)
c.2330A>T (p.Tyr777Phe)
c.2348A>T (p.Tyr783Phe)
c.779A>T (p.Tyr260Phe)
c.1190A>T (p.Tyr397Phe)
c.2291A>T (p.Tyr764Phe)
c.2378A>T (p.Tyr793Phe)
c.2309A>T (p.Tyr770Phe)
c.1841A>T (p.Tyr614Phe)
Xg.41531113T>CCA412990308CASKc.2363A>G (p.Tyr788Cys)
c.2360A>G (p.Tyr787Cys)
c.2414A>G (p.Tyr805Cys)
c.2312A>G (p.Tyr771Cys)
c.2417A>G (p.Tyr806Cys)
c.1034A>G (p.Tyr345Cys)
c.2345A>G (p.Tyr782Cys)
c.2276A>G (p.Tyr759Cys)
n.1193A>G
c.186A>G
c.2396A>G (p.Tyr799Cys)
c.2327A>G (p.Tyr776Cys)
c.2399A>G (p.Tyr800Cys)
n.2645A>G
c.2381A>G (p.Tyr794Cys)
c.1736A>G (p.Tyr579Cys)
c.2330A>G (p.Tyr777Cys)
c.2348A>G (p.Tyr783Cys)
c.779A>G (p.Tyr260Cys)
c.1190A>G (p.Tyr397Cys)
c.2291A>G (p.Tyr764Cys)
c.2378A>G (p.Tyr793Cys)
c.2309A>G (p.Tyr770Cys)
c.1841A>G (p.Tyr614Cys)
Xg.41531113T>GCA412990306CASKc.2363A>C (p.Tyr788Ser)
c.2360A>C (p.Tyr787Ser)
c.2414A>C (p.Tyr805Ser)
c.2312A>C (p.Tyr771Ser)
c.2417A>C (p.Tyr806Ser)
c.1034A>C (p.Tyr345Ser)
c.2345A>C (p.Tyr782Ser)
c.2276A>C (p.Tyr759Ser)
n.1193A>C
c.186A>C
c.2396A>C (p.Tyr799Ser)
c.2327A>C (p.Tyr776Ser)
c.2399A>C (p.Tyr800Ser)
n.2645A>C
c.2381A>C (p.Tyr794Ser)
c.1736A>C (p.Tyr579Ser)
c.2330A>C (p.Tyr777Ser)
c.2348A>C (p.Tyr783Ser)
c.779A>C (p.Tyr260Ser)
c.1190A>C (p.Tyr397Ser)
c.2291A>C (p.Tyr764Ser)
c.2378A>C (p.Tyr793Ser)
c.2309A>C (p.Tyr770Ser)
c.1841A>C (p.Tyr614Ser)
Xg.41531114A>CCA412990310CASKc.2362T>G (p.Tyr788Asp)
c.2359T>G (p.Tyr787Asp)
c.2413T>G (p.Tyr805Asp)
c.2311T>G (p.Tyr771Asp)
c.2416T>G (p.Tyr806Asp)
c.1033T>G (p.Tyr345Asp)
c.2344T>G (p.Tyr782Asp)
c.2275T>G (p.Tyr759Asp)
n.1192T>G
c.185T>G
c.2395T>G (p.Tyr799Asp)
c.2326T>G (p.Tyr776Asp)
c.2398T>G (p.Tyr800Asp)
n.2644T>G
c.2380T>G (p.Tyr794Asp)
c.1735T>G (p.Tyr579Asp)
c.2329T>G (p.Tyr777Asp)
c.2347T>G (p.Tyr783Asp)
c.778T>G (p.Tyr260Asp)
c.1189T>G (p.Tyr397Asp)
c.2290T>G (p.Tyr764Asp)
c.2377T>G (p.Tyr793Asp)
c.2308T>G (p.Tyr770Asp)
c.1840T>G (p.Tyr614Asp)
Xg.41531114A>GCA412990311CASKc.2362T>C (p.Tyr788His)
c.2359T>C (p.Tyr787His)
c.2413T>C (p.Tyr805His)
c.2311T>C (p.Tyr771His)
c.2416T>C (p.Tyr806His)
c.1033T>C (p.Tyr345His)
c.2344T>C (p.Tyr782His)
c.2275T>C (p.Tyr759His)
n.1192T>C
c.185T>C
c.2395T>C (p.Tyr799His)
c.2326T>C (p.Tyr776His)
c.2398T>C (p.Tyr800His)
n.2644T>C
c.2380T>C (p.Tyr794His)
c.1735T>C (p.Tyr579His)
c.2329T>C (p.Tyr777His)
c.2347T>C (p.Tyr783His)
c.778T>C (p.Tyr260His)
c.1189T>C (p.Tyr397His)
c.2290T>C (p.Tyr764His)
c.2377T>C (p.Tyr793His)
c.2308T>C (p.Tyr770His)
c.1840T>C (p.Tyr614His)
Xg.41531114A>TCA412990312CASKc.2362T>A (p.Tyr788Asn)
c.2359T>A (p.Tyr787Asn)
c.2413T>A (p.Tyr805Asn)
c.2311T>A (p.Tyr771Asn)
c.2416T>A (p.Tyr806Asn)
c.1033T>A (p.Tyr345Asn)
c.2344T>A (p.Tyr782Asn)
c.2275T>A (p.Tyr759Asn)
n.1192T>A
c.185T>A
c.2395T>A (p.Tyr799Asn)
c.2326T>A (p.Tyr776Asn)
c.2398T>A (p.Tyr800Asn)
n.2644T>A
c.2380T>A (p.Tyr794Asn)
c.1735T>A (p.Tyr579Asn)
c.2329T>A (p.Tyr777Asn)
c.2347T>A (p.Tyr783Asn)
c.778T>A (p.Tyr260Asn)
c.1189T>A (p.Tyr397Asn)
c.2290T>A (p.Tyr764Asn)
c.2377T>A (p.Tyr793Asn)
c.2308T>A (p.Tyr770Asn)
c.1840T>A (p.Tyr614Asn)
Xg.41531115C>ACA412990314CASKc.2361G>T (p.Glu787Asp)
c.2358G>T (p.Glu786Asp)
c.2412G>T (p.Glu804Asp)
c.2310G>T (p.Glu770Asp)
c.2415G>T (p.Glu805Asp)
c.1032G>T (p.Glu344Asp)
c.2343G>T (p.Glu781Asp)
c.2274G>T (p.Glu758Asp)
n.1191G>T
c.184G>T
c.2394G>T (p.Glu798Asp)
c.2325G>T (p.Glu775Asp)
c.2397G>T (p.Glu799Asp)
n.2643G>T
c.2379G>T (p.Glu793Asp)
c.1734G>T (p.Glu578Asp)
c.2328G>T (p.Glu776Asp)
c.2346G>T (p.Glu782Asp)
c.777G>T (p.Glu259Asp)
c.1188G>T (p.Glu396Asp)
c.2289G>T (p.Glu763Asp)
c.2376G>T (p.Glu792Asp)
c.2307G>T (p.Glu769Asp)
c.1839G>T (p.Glu613Asp)
Xg.41531115C>GCA412990316CASKc.2361G>C (p.Glu787Asp)
c.2358G>C (p.Glu786Asp)
c.2412G>C (p.Glu804Asp)
c.2310G>C (p.Glu770Asp)
c.2415G>C (p.Glu805Asp)
c.1032G>C (p.Glu344Asp)
c.2343G>C (p.Glu781Asp)
c.2274G>C (p.Glu758Asp)
n.1191G>C
c.184G>C
c.2394G>C (p.Glu798Asp)
c.2325G>C (p.Glu775Asp)
c.2397G>C (p.Glu799Asp)
n.2643G>C
c.2379G>C (p.Glu793Asp)
c.1734G>C (p.Glu578Asp)
c.2328G>C (p.Glu776Asp)
c.2346G>C (p.Glu782Asp)
c.777G>C (p.Glu259Asp)
c.1188G>C (p.Glu396Asp)
c.2289G>C (p.Glu763Asp)
c.2376G>C (p.Glu792Asp)
c.2307G>C (p.Glu769Asp)
c.1839G>C (p.Glu613Asp)
Xg.41531115C>TCA516099280CASKc.2361G>A (p.Glu787=)
c.2358G>A (p.Glu786=)
c.2412G>A (p.Glu804=)
c.2310G>A (p.Glu770=)
c.2415G>A (p.Glu805=)
c.1032G>A (p.Glu344=)
c.2343G>A (p.Glu781=)
c.2274G>A (p.Glu758=)
n.1191G>A
c.184G>A
c.2394G>A (p.Glu798=)
c.2325G>A (p.Glu775=)
c.2397G>A (p.Glu799=)
n.2643G>A
c.2379G>A (p.Glu793=)
c.1734G>A (p.Glu578=)
c.2328G>A (p.Glu776=)
c.2346G>A (p.Glu782=)
c.777G>A (p.Glu259=)
c.1188G>A (p.Glu396=)
c.2289G>A (p.Glu763=)
c.2376G>A (p.Glu792=)
c.2307G>A (p.Glu769=)
c.1839G>A (p.Glu613=)
 gnomAD v4
Xg.41531116T>ACA412990318CASKc.2360A>T (p.Glu787Val)
c.2357A>T (p.Glu786Val)
c.2411A>T (p.Glu804Val)
c.2309A>T (p.Glu770Val)
c.2414A>T (p.Glu805Val)
c.1031A>T (p.Glu344Val)
c.2342A>T (p.Glu781Val)
c.2273A>T (p.Glu758Val)
n.1190A>T
c.183A>T
c.2393A>T (p.Glu798Val)
c.2324A>T (p.Glu775Val)
c.2396A>T (p.Glu799Val)
n.2642A>T
c.2378A>T (p.Glu793Val)
c.1733A>T (p.Glu578Val)
c.2327A>T (p.Glu776Val)
c.2345A>T (p.Glu782Val)
c.776A>T (p.Glu259Val)
c.1187A>T (p.Glu396Val)
c.2288A>T (p.Glu763Val)
c.2375A>T (p.Glu792Val)
c.2306A>T (p.Glu769Val)
c.1838A>T (p.Glu613Val)
Xg.41531116T>CCA412990320CASKc.2360A>G (p.Glu787Gly)
c.2357A>G (p.Glu786Gly)
c.2411A>G (p.Glu804Gly)
c.2309A>G (p.Glu770Gly)
c.2414A>G (p.Glu805Gly)
c.1031A>G (p.Glu344Gly)
c.2342A>G (p.Glu781Gly)
c.2273A>G (p.Glu758Gly)
n.1190A>G
c.183A>G
c.2393A>G (p.Glu798Gly)
c.2324A>G (p.Glu775Gly)
c.2396A>G (p.Glu799Gly)
n.2642A>G
c.2378A>G (p.Glu793Gly)
c.1733A>G (p.Glu578Gly)
c.2327A>G (p.Glu776Gly)
c.2345A>G (p.Glu782Gly)
c.776A>G (p.Glu259Gly)
c.1187A>G (p.Glu396Gly)
c.2288A>G (p.Glu763Gly)
c.2375A>G (p.Glu792Gly)
c.2306A>G (p.Glu769Gly)
c.1838A>G (p.Glu613Gly)
Xg.41531116T>GCA412990321CASKc.2360A>C (p.Glu787Ala)
c.2357A>C (p.Glu786Ala)
c.2411A>C (p.Glu804Ala)
c.2309A>C (p.Glu770Ala)
c.2414A>C (p.Glu805Ala)
c.1031A>C (p.Glu344Ala)
c.2342A>C (p.Glu781Ala)
c.2273A>C (p.Glu758Ala)
n.1190A>C
c.183A>C
c.2393A>C (p.Glu798Ala)
c.2324A>C (p.Glu775Ala)
c.2396A>C (p.Glu799Ala)
n.2642A>C
c.2378A>C (p.Glu793Ala)
c.1733A>C (p.Glu578Ala)
c.2327A>C (p.Glu776Ala)
c.2345A>C (p.Glu782Ala)
c.776A>C (p.Glu259Ala)
c.1187A>C (p.Glu396Ala)
c.2288A>C (p.Glu763Ala)
c.2375A>C (p.Glu792Ala)
c.2306A>C (p.Glu769Ala)
c.1838A>C (p.Glu613Ala)
Xg.41531117C>ACA412990323CASKc.2359G>T (p.Glu787Ter)
c.2356G>T (p.Glu786Ter)
c.2410G>T (p.Glu804Ter)
c.2308G>T (p.Glu770Ter)
c.2413G>T (p.Glu805Ter)
c.1030G>T (p.Glu344Ter)
c.2341G>T (p.Glu781Ter)
c.2272G>T (p.Glu758Ter)
n.1189G>T
c.182G>T
c.2392G>T (p.Glu798Ter)
c.2323G>T (p.Glu775Ter)
c.2395G>T (p.Glu799Ter)
n.2641G>T
c.2377G>T (p.Glu793Ter)
c.1732G>T (p.Glu578Ter)
c.2326G>T (p.Glu776Ter)
c.2344G>T (p.Glu782Ter)
c.775G>T (p.Glu259Ter)
c.1186G>T (p.Glu396Ter)
c.2287G>T (p.Glu763Ter)
c.2374G>T (p.Glu792Ter)
c.2305G>T (p.Glu769Ter)
c.1837G>T (p.Glu613Ter)
Xg.41531117C=CA2425947699CASKc.2359G= (p.Glu787=)
c.2356G= (p.Glu786=)
c.2410G= (p.Glu804=)
c.2308G= (p.Glu770=)
c.2413G= (p.Glu805=)
c.1030G= (p.Glu344=)
c.2341G= (p.Glu781=)
c.2272G= (p.Glu758=)
n.1189G=
c.182G=
c.2392G= (p.Glu798=)
c.2323G= (p.Glu775=)
c.2395G= (p.Glu799=)
n.2641G=
c.2377G= (p.Glu793=)
c.1732G= (p.Glu578=)
c.2326G= (p.Glu776=)
c.2344G= (p.Glu782=)
c.775G= (p.Glu259=)
c.1186G= (p.Glu396=)
c.2287G= (p.Glu763=)
c.2374G= (p.Glu792=)
c.2305G= (p.Glu769=)
c.1837G= (p.Glu613=)
Xg.41531117C>GCA412990325CASKc.2359G>C (p.Glu787Gln)
c.2356G>C (p.Glu786Gln)
c.2410G>C (p.Glu804Gln)
c.2308G>C (p.Glu770Gln)
c.2413G>C (p.Glu805Gln)
c.1030G>C (p.Glu344Gln)
c.2341G>C (p.Glu781Gln)
c.2272G>C (p.Glu758Gln)
n.1189G>C
c.182G>C
c.2392G>C (p.Glu798Gln)
c.2323G>C (p.Glu775Gln)
c.2395G>C (p.Glu799Gln)
n.2641G>C
c.2377G>C (p.Glu793Gln)
c.1732G>C (p.Glu578Gln)
c.2326G>C (p.Glu776Gln)
c.2344G>C (p.Glu782Gln)
c.775G>C (p.Glu259Gln)
c.1186G>C (p.Glu396Gln)
c.2287G>C (p.Glu763Gln)
c.2374G>C (p.Glu792Gln)
c.2305G>C (p.Glu769Gln)
c.1837G>C (p.Glu613Gln)
Xg.41531117C>TCA10390025CASKc.2359G>A (p.Glu787Lys)
c.2356G>A (p.Glu786Lys)
c.2410G>A (p.Glu804Lys)
c.2308G>A (p.Glu770Lys)
c.2413G>A (p.Glu805Lys)
c.1030G>A (p.Glu344Lys)
c.2341G>A (p.Glu781Lys)
c.2272G>A (p.Glu758Lys)
n.1189G>A
c.182G>A
c.2392G>A (p.Glu798Lys)
c.2323G>A (p.Glu775Lys)
c.2395G>A (p.Glu799Lys)
n.2641G>A
c.2377G>A (p.Glu793Lys)
c.1732G>A (p.Glu578Lys)
c.2326G>A (p.Glu776Lys)
c.2344G>A (p.Glu782Lys)
c.775G>A (p.Glu259Lys)
c.1186G>A (p.Glu396Lys)
c.2287G>A (p.Glu763Lys)
c.2374G>A (p.Glu792Lys)
c.2305G>A (p.Glu769Lys)
c.1837G>A (p.Glu613Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531118G>ACA10390026CASKc.2358C>T (p.Asn786=)
c.2355C>T (p.Asn785=)
c.2409C>T (p.Asn803=)
c.2307C>T (p.Asn769=)
c.2412C>T (p.Asn804=)
c.1029C>T (p.Asn343=)
c.2340C>T (p.Asn780=)
c.2271C>T (p.Asn757=)
n.1188C>T
c.181C>T
c.2391C>T (p.Asn797=)
c.2322C>T (p.Asn774=)
c.2394C>T (p.Asn798=)
n.2640C>T
c.2376C>T (p.Asn792=)
c.1731C>T (p.Asn577=)
c.2325C>T (p.Asn775=)
c.2343C>T (p.Asn781=)
c.774C>T (p.Asn258=)
c.1185C>T (p.Asn395=)
c.2286C>T (p.Asn762=)
c.2373C>T (p.Asn791=)
c.2304C>T (p.Asn768=)
c.1836C>T (p.Asn612=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531118G>CCA412990329CASKc.2358C>G (p.Asn786Lys)
c.2355C>G (p.Asn785Lys)
c.2409C>G (p.Asn803Lys)
c.2307C>G (p.Asn769Lys)
c.2412C>G (p.Asn804Lys)
c.1029C>G (p.Asn343Lys)
c.2340C>G (p.Asn780Lys)
c.2271C>G (p.Asn757Lys)
n.1188C>G
c.181C>G
c.2391C>G (p.Asn797Lys)
c.2322C>G (p.Asn774Lys)
c.2394C>G (p.Asn798Lys)
n.2640C>G
c.2376C>G (p.Asn792Lys)
c.1731C>G (p.Asn577Lys)
c.2325C>G (p.Asn775Lys)
c.2343C>G (p.Asn781Lys)
c.774C>G (p.Asn258Lys)
c.1185C>G (p.Asn395Lys)
c.2286C>G (p.Asn762Lys)
c.2373C>G (p.Asn791Lys)
c.2304C>G (p.Asn768Lys)
c.1836C>G (p.Asn612Lys)
 gnomAD v4
Xg.41531118G=CA2425947700CASKc.2358C= (p.Asn786=)
c.2355C= (p.Asn785=)
c.2409C= (p.Asn803=)
c.2307C= (p.Asn769=)
c.2412C= (p.Asn804=)
c.1029C= (p.Asn343=)
c.2340C= (p.Asn780=)
c.2271C= (p.Asn757=)
n.1188C=
c.181C=
c.2391C= (p.Asn797=)
c.2322C= (p.Asn774=)
c.2394C= (p.Asn798=)
n.2640C=
c.2376C= (p.Asn792=)
c.1731C= (p.Asn577=)
c.2325C= (p.Asn775=)
c.2343C= (p.Asn781=)
c.774C= (p.Asn258=)
c.1185C= (p.Asn395=)
c.2286C= (p.Asn762=)
c.2373C= (p.Asn791=)
c.2304C= (p.Asn768=)
c.1836C= (p.Asn612=)
Xg.41531118G>TCA412990327CASKc.2358C>A (p.Asn786Lys)
c.2355C>A (p.Asn785Lys)
c.2409C>A (p.Asn803Lys)
c.2307C>A (p.Asn769Lys)
c.2412C>A (p.Asn804Lys)
c.1029C>A (p.Asn343Lys)
c.2340C>A (p.Asn780Lys)
c.2271C>A (p.Asn757Lys)
n.1188C>A
c.181C>A
c.2391C>A (p.Asn797Lys)
c.2322C>A (p.Asn774Lys)
c.2394C>A (p.Asn798Lys)
n.2640C>A
c.2376C>A (p.Asn792Lys)
c.1731C>A (p.Asn577Lys)
c.2325C>A (p.Asn775Lys)
c.2343C>A (p.Asn781Lys)
c.774C>A (p.Asn258Lys)
c.1185C>A (p.Asn395Lys)
c.2286C>A (p.Asn762Lys)
c.2373C>A (p.Asn791Lys)
c.2304C>A (p.Asn768Lys)
c.1836C>A (p.Asn612Lys)
Xg.41531119T>ACA412990331CASKc.2357A>T (p.Asn786Ile)
c.2354A>T (p.Asn785Ile)
c.2408A>T (p.Asn803Ile)
c.2306A>T (p.Asn769Ile)
c.2411A>T (p.Asn804Ile)
c.1028A>T (p.Asn343Ile)
c.2339A>T (p.Asn780Ile)
c.2270A>T (p.Asn757Ile)
n.1187A>T
c.180A>T
c.2390A>T (p.Asn797Ile)
c.2321A>T (p.Asn774Ile)
c.2393A>T (p.Asn798Ile)
n.2639A>T
c.2375A>T (p.Asn792Ile)
c.1730A>T (p.Asn577Ile)
c.2324A>T (p.Asn775Ile)
c.2342A>T (p.Asn781Ile)
c.773A>T (p.Asn258Ile)
c.1184A>T (p.Asn395Ile)
c.2285A>T (p.Asn762Ile)
c.2372A>T (p.Asn791Ile)
c.2303A>T (p.Asn768Ile)
c.1835A>T (p.Asn612Ile)
 gnomAD v4
Xg.41531119T>CCA412990334CASKc.2357A>G (p.Asn786Ser)
c.2354A>G (p.Asn785Ser)
c.2408A>G (p.Asn803Ser)
c.2306A>G (p.Asn769Ser)
c.2411A>G (p.Asn804Ser)
c.1028A>G (p.Asn343Ser)
c.2339A>G (p.Asn780Ser)
c.2270A>G (p.Asn757Ser)
n.1187A>G
c.180A>G
c.2390A>G (p.Asn797Ser)
c.2321A>G (p.Asn774Ser)
c.2393A>G (p.Asn798Ser)
n.2639A>G
c.2375A>G (p.Asn792Ser)
c.1730A>G (p.Asn577Ser)
c.2324A>G (p.Asn775Ser)
c.2342A>G (p.Asn781Ser)
c.773A>G (p.Asn258Ser)
c.1184A>G (p.Asn395Ser)
c.2285A>G (p.Asn762Ser)
c.2372A>G (p.Asn791Ser)
c.2303A>G (p.Asn768Ser)
c.1835A>G (p.Asn612Ser)
Xg.41531119T>GCA412990333CASKc.2357A>C (p.Asn786Thr)
c.2354A>C (p.Asn785Thr)
c.2408A>C (p.Asn803Thr)
c.2306A>C (p.Asn769Thr)
c.2411A>C (p.Asn804Thr)
c.1028A>C (p.Asn343Thr)
c.2339A>C (p.Asn780Thr)
c.2270A>C (p.Asn757Thr)
n.1187A>C
c.180A>C
c.2390A>C (p.Asn797Thr)
c.2321A>C (p.Asn774Thr)
c.2393A>C (p.Asn798Thr)
n.2639A>C
c.2375A>C (p.Asn792Thr)
c.1730A>C (p.Asn577Thr)
c.2324A>C (p.Asn775Thr)
c.2342A>C (p.Asn781Thr)
c.773A>C (p.Asn258Thr)
c.1184A>C (p.Asn395Thr)
c.2285A>C (p.Asn762Thr)
c.2372A>C (p.Asn791Thr)
c.2303A>C (p.Asn768Thr)
c.1835A>C (p.Asn612Thr)
Xg.41531120T>ACA412990335CASKc.2356A>T (p.Asn786Tyr)
c.2353A>T (p.Asn785Tyr)
c.2407A>T (p.Asn803Tyr)
c.2305A>T (p.Asn769Tyr)
c.2410A>T (p.Asn804Tyr)
c.1027A>T (p.Asn343Tyr)
c.2338A>T (p.Asn780Tyr)
c.2269A>T (p.Asn757Tyr)
n.1186A>T
c.179A>T
c.2389A>T (p.Asn797Tyr)
c.2320A>T (p.Asn774Tyr)
c.2392A>T (p.Asn798Tyr)
n.2638A>T
c.2374A>T (p.Asn792Tyr)
c.1729A>T (p.Asn577Tyr)
c.2323A>T (p.Asn775Tyr)
c.2341A>T (p.Asn781Tyr)
c.772A>T (p.Asn258Tyr)
c.1183A>T (p.Asn395Tyr)
c.2284A>T (p.Asn762Tyr)
c.2371A>T (p.Asn791Tyr)
c.2302A>T (p.Asn768Tyr)
c.1834A>T (p.Asn612Tyr)
 gnomAD v4
Xg.41531120T>CCA412990336CASKc.2356A>G (p.Asn786Asp)
c.2353A>G (p.Asn785Asp)
c.2407A>G (p.Asn803Asp)
c.2305A>G (p.Asn769Asp)
c.2410A>G (p.Asn804Asp)
c.1027A>G (p.Asn343Asp)
c.2338A>G (p.Asn780Asp)
c.2269A>G (p.Asn757Asp)
n.1186A>G
c.179A>G
c.2389A>G (p.Asn797Asp)
c.2320A>G (p.Asn774Asp)
c.2392A>G (p.Asn798Asp)
n.2638A>G
c.2374A>G (p.Asn792Asp)
c.1729A>G (p.Asn577Asp)
c.2323A>G (p.Asn775Asp)
c.2341A>G (p.Asn781Asp)
c.772A>G (p.Asn258Asp)
c.1183A>G (p.Asn395Asp)
c.2284A>G (p.Asn762Asp)
c.2371A>G (p.Asn791Asp)
c.2302A>G (p.Asn768Asp)
c.1834A>G (p.Asn612Asp)
Xg.41531120T>GCA412990338CASKc.2356A>C (p.Asn786His)
c.2353A>C (p.Asn785His)
c.2407A>C (p.Asn803His)
c.2305A>C (p.Asn769His)
c.2410A>C (p.Asn804His)
c.1027A>C (p.Asn343His)
c.2338A>C (p.Asn780His)
c.2269A>C (p.Asn757His)
n.1186A>C
c.179A>C
c.2389A>C (p.Asn797His)
c.2320A>C (p.Asn774His)
c.2392A>C (p.Asn798His)
n.2638A>C
c.2374A>C (p.Asn792His)
c.1729A>C (p.Asn577His)
c.2323A>C (p.Asn775His)
c.2341A>C (p.Asn781His)
c.772A>C (p.Asn258His)
c.1183A>C (p.Asn395His)
c.2284A>C (p.Asn762His)
c.2371A>C (p.Asn791His)
c.2302A>C (p.Asn768His)
c.1834A>C (p.Asn612His)
Xg.41531121A=CA2425947701CASKc.2355T= (p.Asn785=)
c.2352T= (p.Asn784=)
c.2406T= (p.Asn802=)
c.2304T= (p.Asn768=)
c.2409T= (p.Asn803=)
c.1026T= (p.Asn342=)
c.2337T= (p.Asn779=)
c.2268T= (p.Asn756=)
n.1185T=
c.178T=
c.2388T= (p.Asn796=)
c.2319T= (p.Asn773=)
c.2391T= (p.Asn797=)
n.2637T=
c.2373T= (p.Asn791=)
c.1728T= (p.Asn576=)
c.2322T= (p.Asn774=)
c.2340T= (p.Asn780=)
c.771T= (p.Asn257=)
c.1182T= (p.Asn394=)
c.2283T= (p.Asn761=)
c.2370T= (p.Asn790=)
c.2301T= (p.Asn767=)
c.1833T= (p.Asn611=)
Xg.41531121A>CCA10390027CASKc.2355T>G (p.Asn785Lys)
c.2352T>G (p.Asn784Lys)
c.2406T>G (p.Asn802Lys)
c.2304T>G (p.Asn768Lys)
c.2409T>G (p.Asn803Lys)
c.1026T>G (p.Asn342Lys)
c.2337T>G (p.Asn779Lys)
c.2268T>G (p.Asn756Lys)
n.1185T>G
c.178T>G
c.2388T>G (p.Asn796Lys)
c.2319T>G (p.Asn773Lys)
c.2391T>G (p.Asn797Lys)
n.2637T>G
c.2373T>G (p.Asn791Lys)
c.1728T>G (p.Asn576Lys)
c.2322T>G (p.Asn774Lys)
c.2340T>G (p.Asn780Lys)
c.771T>G (p.Asn257Lys)
c.1182T>G (p.Asn394Lys)
c.2283T>G (p.Asn761Lys)
c.2370T>G (p.Asn790Lys)
c.2301T>G (p.Asn767Lys)
c.1833T>G (p.Asn611Lys)
 dbSNP ExAC
Xg.41531121A>GCA516099308CASKc.2355T>C (p.Asn785=)
c.2352T>C (p.Asn784=)
c.2406T>C (p.Asn802=)
c.2304T>C (p.Asn768=)
c.2409T>C (p.Asn803=)
c.1026T>C (p.Asn342=)
c.2337T>C (p.Asn779=)
c.2268T>C (p.Asn756=)
n.1185T>C
c.178T>C
c.2388T>C (p.Asn796=)
c.2319T>C (p.Asn773=)
c.2391T>C (p.Asn797=)
n.2637T>C
c.2373T>C (p.Asn791=)
c.1728T>C (p.Asn576=)
c.2322T>C (p.Asn774=)
c.2340T>C (p.Asn780=)
c.771T>C (p.Asn257=)
c.1182T>C (p.Asn394=)
c.2283T>C (p.Asn761=)
c.2370T>C (p.Asn790=)
c.2301T>C (p.Asn767=)
c.1833T>C (p.Asn611=)
Xg.41531121A>TCA412990341CASKc.2355T>A (p.Asn785Lys)
c.2352T>A (p.Asn784Lys)
c.2406T>A (p.Asn802Lys)
c.2304T>A (p.Asn768Lys)
c.2409T>A (p.Asn803Lys)
c.1026T>A (p.Asn342Lys)
c.2337T>A (p.Asn779Lys)
c.2268T>A (p.Asn756Lys)
n.1185T>A
c.178T>A
c.2388T>A (p.Asn796Lys)
c.2319T>A (p.Asn773Lys)
c.2391T>A (p.Asn797Lys)
n.2637T>A
c.2373T>A (p.Asn791Lys)
c.1728T>A (p.Asn576Lys)
c.2322T>A (p.Asn774Lys)
c.2340T>A (p.Asn780Lys)
c.771T>A (p.Asn257Lys)
c.1182T>A (p.Asn394Lys)
c.2283T>A (p.Asn761Lys)
c.2370T>A (p.Asn790Lys)
c.2301T>A (p.Asn767Lys)
c.1833T>A (p.Asn611Lys)
Xg.41531122T>ACA412990342CASKc.2354A>T (p.Asn785Ile)
c.2351A>T (p.Asn784Ile)
c.2405A>T (p.Asn802Ile)
c.2303A>T (p.Asn768Ile)
c.2408A>T (p.Asn803Ile)
c.1025A>T (p.Asn342Ile)
c.2336A>T (p.Asn779Ile)
c.2267A>T (p.Asn756Ile)
n.1184A>T
c.177A>T
c.2387A>T (p.Asn796Ile)
c.2318A>T (p.Asn773Ile)
c.2390A>T (p.Asn797Ile)
n.2636A>T
c.2372A>T (p.Asn791Ile)
c.1727A>T (p.Asn576Ile)
c.2321A>T (p.Asn774Ile)
c.2339A>T (p.Asn780Ile)
c.770A>T (p.Asn257Ile)
c.1181A>T (p.Asn394Ile)
c.2282A>T (p.Asn761Ile)
c.2369A>T (p.Asn790Ile)
c.2300A>T (p.Asn767Ile)
c.1832A>T (p.Asn611Ile)
Xg.41531122T>CCA412990343CASKc.2354A>G (p.Asn785Ser)
c.2351A>G (p.Asn784Ser)
c.2405A>G (p.Asn802Ser)
c.2303A>G (p.Asn768Ser)
c.2408A>G (p.Asn803Ser)
c.1025A>G (p.Asn342Ser)
c.2336A>G (p.Asn779Ser)
c.2267A>G (p.Asn756Ser)
n.1184A>G
c.177A>G
c.2387A>G (p.Asn796Ser)
c.2318A>G (p.Asn773Ser)
c.2390A>G (p.Asn797Ser)
n.2636A>G
c.2372A>G (p.Asn791Ser)
c.1727A>G (p.Asn576Ser)
c.2321A>G (p.Asn774Ser)
c.2339A>G (p.Asn780Ser)
c.770A>G (p.Asn257Ser)
c.1181A>G (p.Asn394Ser)
c.2282A>G (p.Asn761Ser)
c.2369A>G (p.Asn790Ser)
c.2300A>G (p.Asn767Ser)
c.1832A>G (p.Asn611Ser)
Xg.41531122T>GCA412990345CASKc.2354A>C (p.Asn785Thr)
c.2351A>C (p.Asn784Thr)
c.2405A>C (p.Asn802Thr)
c.2303A>C (p.Asn768Thr)
c.2408A>C (p.Asn803Thr)
c.1025A>C (p.Asn342Thr)
c.2336A>C (p.Asn779Thr)
c.2267A>C (p.Asn756Thr)
n.1184A>C
c.177A>C
c.2387A>C (p.Asn796Thr)
c.2318A>C (p.Asn773Thr)
c.2390A>C (p.Asn797Thr)
n.2636A>C
c.2372A>C (p.Asn791Thr)
c.1727A>C (p.Asn576Thr)
c.2321A>C (p.Asn774Thr)
c.2339A>C (p.Asn780Thr)
c.770A>C (p.Asn257Thr)
c.1181A>C (p.Asn394Thr)
c.2282A>C (p.Asn761Thr)
c.2369A>C (p.Asn790Thr)
c.2300A>C (p.Asn767Thr)
c.1832A>C (p.Asn611Thr)
Xg.41531123T>ACA412990347CASKc.2353A>T (p.Asn785Tyr)
c.2350A>T (p.Asn784Tyr)
c.2404A>T (p.Asn802Tyr)
c.2302A>T (p.Asn768Tyr)
c.2407A>T (p.Asn803Tyr)
c.1024A>T (p.Asn342Tyr)
c.2335A>T (p.Asn779Tyr)
c.2266A>T (p.Asn756Tyr)
n.1183A>T
c.176A>T
c.2386A>T (p.Asn796Tyr)
c.2317A>T (p.Asn773Tyr)
c.2389A>T (p.Asn797Tyr)
n.2635A>T
c.2371A>T (p.Asn791Tyr)
c.1726A>T (p.Asn576Tyr)
c.2320A>T (p.Asn774Tyr)
c.2338A>T (p.Asn780Tyr)
c.769A>T (p.Asn257Tyr)
c.1180A>T (p.Asn394Tyr)
c.2281A>T (p.Asn761Tyr)
c.2368A>T (p.Asn790Tyr)
c.2299A>T (p.Asn767Tyr)
c.1831A>T (p.Asn611Tyr)
Xg.41531123T>CCA412990348CASKc.2353A>G (p.Asn785Asp)
c.2350A>G (p.Asn784Asp)
c.2404A>G (p.Asn802Asp)
c.2302A>G (p.Asn768Asp)
c.2407A>G (p.Asn803Asp)
c.1024A>G (p.Asn342Asp)
c.2335A>G (p.Asn779Asp)
c.2266A>G (p.Asn756Asp)
n.1183A>G
c.176A>G
c.2386A>G (p.Asn796Asp)
c.2317A>G (p.Asn773Asp)
c.2389A>G (p.Asn797Asp)
n.2635A>G
c.2371A>G (p.Asn791Asp)
c.1726A>G (p.Asn576Asp)
c.2320A>G (p.Asn774Asp)
c.2338A>G (p.Asn780Asp)
c.769A>G (p.Asn257Asp)
c.1180A>G (p.Asn394Asp)
c.2281A>G (p.Asn761Asp)
c.2368A>G (p.Asn790Asp)
c.2299A>G (p.Asn767Asp)
c.1831A>G (p.Asn611Asp)
Xg.41531123T>GCA412990350CASKc.2353A>C (p.Asn785His)
c.2350A>C (p.Asn784His)
c.2404A>C (p.Asn802His)
c.2302A>C (p.Asn768His)
c.2407A>C (p.Asn803His)
c.1024A>C (p.Asn342His)
c.2335A>C (p.Asn779His)
c.2266A>C (p.Asn756His)
n.1183A>C
c.176A>C
c.2386A>C (p.Asn796His)
c.2317A>C (p.Asn773His)
c.2389A>C (p.Asn797His)
n.2635A>C
c.2371A>C (p.Asn791His)
c.1726A>C (p.Asn576His)
c.2320A>C (p.Asn774His)
c.2338A>C (p.Asn780His)
c.769A>C (p.Asn257His)
c.1180A>C (p.Asn394His)
c.2281A>C (p.Asn761His)
c.2368A>C (p.Asn790His)
c.2299A>C (p.Asn767His)
c.1831A>C (p.Asn611His)
Xg.41531124A>CCA516099320CASKc.2352T>G (p.Ser784=)
c.2349T>G (p.Ser783=)
c.2403T>G (p.Ser801=)
c.2301T>G (p.Ser767=)
c.2406T>G (p.Ser802=)
c.1023T>G (p.Ser341=)
c.2334T>G (p.Ser778=)
c.2265T>G (p.Ser755=)
n.1182T>G
c.175T>G
c.2385T>G (p.Ser795=)
c.2316T>G (p.Ser772=)
c.2388T>G (p.Ser796=)
n.2634T>G
c.2370T>G (p.Ser790=)
c.1725T>G (p.Ser575=)
c.2319T>G (p.Ser773=)
c.2337T>G (p.Ser779=)
c.768T>G (p.Ser256=)
c.1179T>G (p.Ser393=)
c.2280T>G (p.Ser760=)
c.2367T>G (p.Ser789=)
c.2298T>G (p.Ser766=)
c.1830T>G (p.Ser610=)
Xg.41531124A>GCA516099324CASKc.2352T>C (p.Ser784=)
c.2349T>C (p.Ser783=)
c.2403T>C (p.Ser801=)
c.2301T>C (p.Ser767=)
c.2406T>C (p.Ser802=)
c.1023T>C (p.Ser341=)
c.2334T>C (p.Ser778=)
c.2265T>C (p.Ser755=)
n.1182T>C
c.175T>C
c.2385T>C (p.Ser795=)
c.2316T>C (p.Ser772=)
c.2388T>C (p.Ser796=)
n.2634T>C
c.2370T>C (p.Ser790=)
c.1725T>C (p.Ser575=)
c.2319T>C (p.Ser773=)
c.2337T>C (p.Ser779=)
c.768T>C (p.Ser256=)
c.1179T>C (p.Ser393=)
c.2280T>C (p.Ser760=)
c.2367T>C (p.Ser789=)
c.2298T>C (p.Ser766=)
c.1830T>C (p.Ser610=)
Xg.41531124A>TCA516099322CASKc.2352T>A (p.Ser784=)
c.2349T>A (p.Ser783=)
c.2403T>A (p.Ser801=)
c.2301T>A (p.Ser767=)
c.2406T>A (p.Ser802=)
c.1023T>A (p.Ser341=)
c.2334T>A (p.Ser778=)
c.2265T>A (p.Ser755=)
n.1182T>A
c.175T>A
c.2385T>A (p.Ser795=)
c.2316T>A (p.Ser772=)
c.2388T>A (p.Ser796=)
n.2634T>A
c.2370T>A (p.Ser790=)
c.1725T>A (p.Ser575=)
c.2319T>A (p.Ser773=)
c.2337T>A (p.Ser779=)
c.768T>A (p.Ser256=)
c.1179T>A (p.Ser393=)
c.2280T>A (p.Ser760=)
c.2367T>A (p.Ser789=)
c.2298T>A (p.Ser766=)
c.1830T>A (p.Ser610=)
Xg.41531125G>ACA412990354CASKc.2351C>T (p.Ser784Phe)
c.2348C>T (p.Ser783Phe)
c.2402C>T (p.Ser801Phe)
c.2300C>T (p.Ser767Phe)
c.2405C>T (p.Ser802Phe)
c.1022C>T (p.Ser341Phe)
c.2333C>T (p.Ser778Phe)
c.2264C>T (p.Ser755Phe)
n.1181C>T
c.174C>T
c.2384C>T (p.Ser795Phe)
c.2315C>T (p.Ser772Phe)
c.2387C>T (p.Ser796Phe)
n.2633C>T
c.2369C>T (p.Ser790Phe)
c.1724C>T (p.Ser575Phe)
c.2318C>T (p.Ser773Phe)
c.2336C>T (p.Ser779Phe)
c.767C>T (p.Ser256Phe)
c.1178C>T (p.Ser393Phe)
c.2279C>T (p.Ser760Phe)
c.2366C>T (p.Ser789Phe)
c.2297C>T (p.Ser766Phe)
c.1829C>T (p.Ser610Phe)
 gnomAD v4
Xg.41531125G>CCA412990353CASKc.2351C>G (p.Ser784Cys)
c.2348C>G (p.Ser783Cys)
c.2402C>G (p.Ser801Cys)
c.2300C>G (p.Ser767Cys)
c.2405C>G (p.Ser802Cys)
c.1022C>G (p.Ser341Cys)
c.2333C>G (p.Ser778Cys)
c.2264C>G (p.Ser755Cys)
n.1181C>G
c.174C>G
c.2384C>G (p.Ser795Cys)
c.2315C>G (p.Ser772Cys)
c.2387C>G (p.Ser796Cys)
n.2633C>G
c.2369C>G (p.Ser790Cys)
c.1724C>G (p.Ser575Cys)
c.2318C>G (p.Ser773Cys)
c.2336C>G (p.Ser779Cys)
c.767C>G (p.Ser256Cys)
c.1178C>G (p.Ser393Cys)
c.2279C>G (p.Ser760Cys)
c.2366C>G (p.Ser789Cys)
c.2297C>G (p.Ser766Cys)
c.1829C>G (p.Ser610Cys)
Xg.41531125G>TCA412990352CASKc.2351C>A (p.Ser784Tyr)
c.2348C>A (p.Ser783Tyr)
c.2402C>A (p.Ser801Tyr)
c.2300C>A (p.Ser767Tyr)
c.2405C>A (p.Ser802Tyr)
c.1022C>A (p.Ser341Tyr)
c.2333C>A (p.Ser778Tyr)
c.2264C>A (p.Ser755Tyr)
n.1181C>A
c.174C>A
c.2384C>A (p.Ser795Tyr)
c.2315C>A (p.Ser772Tyr)
c.2387C>A (p.Ser796Tyr)
n.2633C>A
c.2369C>A (p.Ser790Tyr)
c.1724C>A (p.Ser575Tyr)
c.2318C>A (p.Ser773Tyr)
c.2336C>A (p.Ser779Tyr)
c.767C>A (p.Ser256Tyr)
c.1178C>A (p.Ser393Tyr)
c.2279C>A (p.Ser760Tyr)
c.2366C>A (p.Ser789Tyr)
c.2297C>A (p.Ser766Tyr)
c.1829C>A (p.Ser610Tyr)
Xg.41531126A>CCA412990355CASKc.2350T>G (p.Ser784Ala)
c.2347T>G (p.Ser783Ala)
c.2401T>G (p.Ser801Ala)
c.2299T>G (p.Ser767Ala)
c.2404T>G (p.Ser802Ala)
c.1021T>G (p.Ser341Ala)
c.2332T>G (p.Ser778Ala)
c.2263T>G (p.Ser755Ala)
n.1180T>G
c.173T>G
c.2383T>G (p.Ser795Ala)
c.2314T>G (p.Ser772Ala)
c.2386T>G (p.Ser796Ala)
n.2632T>G
c.2368T>G (p.Ser790Ala)
c.1723T>G (p.Ser575Ala)
c.2317T>G (p.Ser773Ala)
c.2335T>G (p.Ser779Ala)
c.766T>G (p.Ser256Ala)
c.1177T>G (p.Ser393Ala)
c.2278T>G (p.Ser760Ala)
c.2365T>G (p.Ser789Ala)
c.2296T>G (p.Ser766Ala)
c.1828T>G (p.Ser610Ala)
Xg.41531126A>GCA412990357CASKc.2350T>C (p.Ser784Pro)
c.2347T>C (p.Ser783Pro)
c.2401T>C (p.Ser801Pro)
c.2299T>C (p.Ser767Pro)
c.2404T>C (p.Ser802Pro)
c.1021T>C (p.Ser341Pro)
c.2332T>C (p.Ser778Pro)
c.2263T>C (p.Ser755Pro)
n.1180T>C
c.173T>C
c.2383T>C (p.Ser795Pro)
c.2314T>C (p.Ser772Pro)
c.2386T>C (p.Ser796Pro)
n.2632T>C
c.2368T>C (p.Ser790Pro)
c.1723T>C (p.Ser575Pro)
c.2317T>C (p.Ser773Pro)
c.2335T>C (p.Ser779Pro)
c.766T>C (p.Ser256Pro)
c.1177T>C (p.Ser393Pro)
c.2278T>C (p.Ser760Pro)
c.2365T>C (p.Ser789Pro)
c.2296T>C (p.Ser766Pro)
c.1828T>C (p.Ser610Pro)
Xg.41531126A>TCA412990359CASKc.2350T>A (p.Ser784Thr)
c.2347T>A (p.Ser783Thr)
c.2401T>A (p.Ser801Thr)
c.2299T>A (p.Ser767Thr)
c.2404T>A (p.Ser802Thr)
c.1021T>A (p.Ser341Thr)
c.2332T>A (p.Ser778Thr)
c.2263T>A (p.Ser755Thr)
n.1180T>A
c.173T>A
c.2383T>A (p.Ser795Thr)
c.2314T>A (p.Ser772Thr)
c.2386T>A (p.Ser796Thr)
n.2632T>A
c.2368T>A (p.Ser790Thr)
c.1723T>A (p.Ser575Thr)
c.2317T>A (p.Ser773Thr)
c.2335T>A (p.Ser779Thr)
c.766T>A (p.Ser256Thr)
c.1177T>A (p.Ser393Thr)
c.2278T>A (p.Ser760Thr)
c.2365T>A (p.Ser789Thr)
c.2296T>A (p.Ser766Thr)
c.1828T>A (p.Ser610Thr)
Xg.41531127G>ACA516099337CASKc.2349C>T (p.Ile783=)
c.2346C>T (p.Ile782=)
c.2400C>T (p.Ile800=)
c.2298C>T (p.Ile766=)
c.2403C>T (p.Ile801=)
c.1020C>T (p.Ile340=)
c.2331C>T (p.Ile777=)
c.2262C>T (p.Ile754=)
n.1179C>T
c.172C>T
c.2382C>T (p.Ile794=)
c.2313C>T (p.Ile771=)
c.2385C>T (p.Ile795=)
n.2631C>T
c.2367C>T (p.Ile789=)
c.1722C>T (p.Ile574=)
c.2316C>T (p.Ile772=)
c.2334C>T (p.Ile778=)
c.765C>T (p.Ile255=)
c.1176C>T (p.Ile392=)
c.2277C>T (p.Ile759=)
c.2364C>T (p.Ile788=)
c.2295C>T (p.Ile765=)
c.1827C>T (p.Ile609=)
Xg.41531127G>CCA412990360CASKc.2349C>G (p.Ile783Met)
c.2346C>G (p.Ile782Met)
c.2400C>G (p.Ile800Met)
c.2298C>G (p.Ile766Met)
c.2403C>G (p.Ile801Met)
c.1020C>G (p.Ile340Met)
c.2331C>G (p.Ile777Met)
c.2262C>G (p.Ile754Met)
n.1179C>G
c.172C>G
c.2382C>G (p.Ile794Met)
c.2313C>G (p.Ile771Met)
c.2385C>G (p.Ile795Met)
n.2631C>G
c.2367C>G (p.Ile789Met)
c.1722C>G (p.Ile574Met)
c.2316C>G (p.Ile772Met)
c.2334C>G (p.Ile778Met)
c.765C>G (p.Ile255Met)
c.1176C>G (p.Ile392Met)
c.2277C>G (p.Ile759Met)
c.2364C>G (p.Ile788Met)
c.2295C>G (p.Ile765Met)
c.1827C>G (p.Ile609Met)
 COSMIC
Xg.41531127G>TCA516099340CASKc.2349C>A (p.Ile783=)
c.2346C>A (p.Ile782=)
c.2400C>A (p.Ile800=)
c.2298C>A (p.Ile766=)
c.2403C>A (p.Ile801=)
c.1020C>A (p.Ile340=)
c.2331C>A (p.Ile777=)
c.2262C>A (p.Ile754=)
n.1179C>A
c.172C>A
c.2382C>A (p.Ile794=)
c.2313C>A (p.Ile771=)
c.2385C>A (p.Ile795=)
n.2631C>A
c.2367C>A (p.Ile789=)
c.1722C>A (p.Ile574=)
c.2316C>A (p.Ile772=)
c.2334C>A (p.Ile778=)
c.765C>A (p.Ile255=)
c.1176C>A (p.Ile392=)
c.2277C>A (p.Ile759=)
c.2364C>A (p.Ile788=)
c.2295C>A (p.Ile765=)
c.1827C>A (p.Ile609=)
 COSMIC
Xg.41531128A>CCA412990362CASKc.2348T>G (p.Ile783Ser)
c.2345T>G (p.Ile782Ser)
c.2399T>G (p.Ile800Ser)
c.2297T>G (p.Ile766Ser)
c.2402T>G (p.Ile801Ser)
c.1019T>G (p.Ile340Ser)
c.2330T>G (p.Ile777Ser)
c.2261T>G (p.Ile754Ser)
n.1178T>G
c.171T>G
c.2381T>G (p.Ile794Ser)
c.2312T>G (p.Ile771Ser)
c.2384T>G (p.Ile795Ser)
n.2630T>G
c.2366T>G (p.Ile789Ser)
c.1721T>G (p.Ile574Ser)
c.2315T>G (p.Ile772Ser)
c.2333T>G (p.Ile778Ser)
c.764T>G (p.Ile255Ser)
c.1175T>G (p.Ile392Ser)
c.2276T>G (p.Ile759Ser)
c.2363T>G (p.Ile788Ser)
c.2294T>G (p.Ile765Ser)
c.1826T>G (p.Ile609Ser)
Xg.41531128A>GCA412990363CASKc.2348T>C (p.Ile783Thr)
c.2345T>C (p.Ile782Thr)
c.2399T>C (p.Ile800Thr)
c.2297T>C (p.Ile766Thr)
c.2402T>C (p.Ile801Thr)
c.1019T>C (p.Ile340Thr)
c.2330T>C (p.Ile777Thr)
c.2261T>C (p.Ile754Thr)
n.1178T>C
c.171T>C
c.2381T>C (p.Ile794Thr)
c.2312T>C (p.Ile771Thr)
c.2384T>C (p.Ile795Thr)
n.2630T>C
c.2366T>C (p.Ile789Thr)
c.1721T>C (p.Ile574Thr)
c.2315T>C (p.Ile772Thr)
c.2333T>C (p.Ile778Thr)
c.764T>C (p.Ile255Thr)
c.1175T>C (p.Ile392Thr)
c.2276T>C (p.Ile759Thr)
c.2363T>C (p.Ile788Thr)
c.2294T>C (p.Ile765Thr)
c.1826T>C (p.Ile609Thr)
Xg.41531128A>TCA412990365CASKc.2348T>A (p.Ile783Asn)
c.2345T>A (p.Ile782Asn)
c.2399T>A (p.Ile800Asn)
c.2297T>A (p.Ile766Asn)
c.2402T>A (p.Ile801Asn)
c.1019T>A (p.Ile340Asn)
c.2330T>A (p.Ile777Asn)
c.2261T>A (p.Ile754Asn)
n.1178T>A
c.171T>A
c.2381T>A (p.Ile794Asn)
c.2312T>A (p.Ile771Asn)
c.2384T>A (p.Ile795Asn)
n.2630T>A
c.2366T>A (p.Ile789Asn)
c.1721T>A (p.Ile574Asn)
c.2315T>A (p.Ile772Asn)
c.2333T>A (p.Ile778Asn)
c.764T>A (p.Ile255Asn)
c.1175T>A (p.Ile392Asn)
c.2276T>A (p.Ile759Asn)
c.2363T>A (p.Ile788Asn)
c.2294T>A (p.Ile765Asn)
c.1826T>A (p.Ile609Asn)
Xg.41531129T>ACA412990367CASKc.2347A>T (p.Ile783Phe)
c.2344A>T (p.Ile782Phe)
c.2398A>T (p.Ile800Phe)
c.2296A>T (p.Ile766Phe)
c.2401A>T (p.Ile801Phe)
c.1018A>T (p.Ile340Phe)
c.2329A>T (p.Ile777Phe)
c.2260A>T (p.Ile754Phe)
n.1177A>T
c.170A>T
c.2380A>T (p.Ile794Phe)
c.2311A>T (p.Ile771Phe)
c.2383A>T (p.Ile795Phe)
n.2629A>T
c.2365A>T (p.Ile789Phe)
c.1720A>T (p.Ile574Phe)
c.2314A>T (p.Ile772Phe)
c.2332A>T (p.Ile778Phe)
c.763A>T (p.Ile255Phe)
c.1174A>T (p.Ile392Phe)
c.2275A>T (p.Ile759Phe)
c.2362A>T (p.Ile788Phe)
c.2293A>T (p.Ile765Phe)
c.1825A>T (p.Ile609Phe)
Xg.41531129T>CCA412990368CASKc.2347A>G (p.Ile783Val)
c.2344A>G (p.Ile782Val)
c.2398A>G (p.Ile800Val)
c.2296A>G (p.Ile766Val)
c.2401A>G (p.Ile801Val)
c.1018A>G (p.Ile340Val)
c.2329A>G (p.Ile777Val)
c.2260A>G (p.Ile754Val)
n.1177A>G
c.170A>G
c.2380A>G (p.Ile794Val)
c.2311A>G (p.Ile771Val)
c.2383A>G (p.Ile795Val)
n.2629A>G
c.2365A>G (p.Ile789Val)
c.1720A>G (p.Ile574Val)
c.2314A>G (p.Ile772Val)
c.2332A>G (p.Ile778Val)
c.763A>G (p.Ile255Val)
c.1174A>G (p.Ile392Val)
c.2275A>G (p.Ile759Val)
c.2362A>G (p.Ile788Val)
c.2293A>G (p.Ile765Val)
c.1825A>G (p.Ile609Val)
Xg.41531129T>GCA412990369CASKc.2347A>C (p.Ile783Leu)
c.2344A>C (p.Ile782Leu)
c.2398A>C (p.Ile800Leu)
c.2296A>C (p.Ile766Leu)
c.2401A>C (p.Ile801Leu)
c.1018A>C (p.Ile340Leu)
c.2329A>C (p.Ile777Leu)
c.2260A>C (p.Ile754Leu)
n.1177A>C
c.170A>C
c.2380A>C (p.Ile794Leu)
c.2311A>C (p.Ile771Leu)
c.2383A>C (p.Ile795Leu)
n.2629A>C
c.2365A>C (p.Ile789Leu)
c.1720A>C (p.Ile574Leu)
c.2314A>C (p.Ile772Leu)
c.2332A>C (p.Ile778Leu)
c.763A>C (p.Ile255Leu)
c.1174A>C (p.Ile392Leu)
c.2275A>C (p.Ile759Leu)
c.2362A>C (p.Ile788Leu)
c.2293A>C (p.Ile765Leu)
c.1825A>C (p.Ile609Leu)
Xg.41531130G>ACA516099352CASKc.2346C>T (p.Asp782=)
c.2343C>T (p.Asp781=)
c.2397C>T (p.Asp799=)
c.2295C>T (p.Asp765=)
c.2400C>T (p.Asp800=)
c.1017C>T (p.Asp339=)
c.2328C>T (p.Asp776=)
c.2259C>T (p.Asp753=)
n.1176C>T
c.169C>T
c.2379C>T (p.Asp793=)
c.2310C>T (p.Asp770=)
c.2382C>T (p.Asp794=)
n.2628C>T
c.2364C>T (p.Asp788=)
c.1719C>T (p.Asp573=)
c.2313C>T (p.Asp771=)
c.2331C>T (p.Asp777=)
c.762C>T (p.Asp254=)
c.1173C>T (p.Asp391=)
c.2274C>T (p.Asp758=)
c.2361C>T (p.Asp787=)
c.2292C>T (p.Asp764=)
c.1824C>T (p.Asp608=)
 gnomAD v4
Xg.41531130G>CCA16621396CASKc.2346C>G (p.Asp782Glu)
c.2343C>G (p.Asp781Glu)
c.2397C>G (p.Asp799Glu)
c.2295C>G (p.Asp765Glu)
c.2400C>G (p.Asp800Glu)
c.1017C>G (p.Asp339Glu)
c.2328C>G (p.Asp776Glu)
c.2259C>G (p.Asp753Glu)
n.1176C>G
c.169C>G
c.2379C>G (p.Asp793Glu)
c.2310C>G (p.Asp770Glu)
c.2382C>G (p.Asp794Glu)
n.2628C>G
c.2364C>G (p.Asp788Glu)
c.1719C>G (p.Asp573Glu)
c.2313C>G (p.Asp771Glu)
c.2331C>G (p.Asp777Glu)
c.762C>G (p.Asp254Glu)
c.1173C>G (p.Asp391Glu)
c.2274C>G (p.Asp758Glu)
c.2361C>G (p.Asp787Glu)
c.2292C>G (p.Asp764Glu)
c.1824C>G (p.Asp608Glu)
 ClinVar dbSNP
Xg.41531130G=CA2425947702CASKc.2346C= (p.Asp782=)
c.2343C= (p.Asp781=)
c.2397C= (p.Asp799=)
c.2295C= (p.Asp765=)
c.2400C= (p.Asp800=)
c.1017C= (p.Asp339=)
c.2328C= (p.Asp776=)
c.2259C= (p.Asp753=)
n.1176C=
c.169C=
c.2379C= (p.Asp793=)
c.2310C= (p.Asp770=)
c.2382C= (p.Asp794=)
n.2628C=
c.2364C= (p.Asp788=)
c.1719C= (p.Asp573=)
c.2313C= (p.Asp771=)
c.2331C= (p.Asp777=)
c.762C= (p.Asp254=)
c.1173C= (p.Asp391=)
c.2274C= (p.Asp758=)
c.2361C= (p.Asp787=)
c.2292C= (p.Asp764=)
c.1824C= (p.Asp608=)
Xg.41531130G>TCA412990371CASKc.2346C>A (p.Asp782Glu)
c.2343C>A (p.Asp781Glu)
c.2397C>A (p.Asp799Glu)
c.2295C>A (p.Asp765Glu)
c.2400C>A (p.Asp800Glu)
c.1017C>A (p.Asp339Glu)
c.2328C>A (p.Asp776Glu)
c.2259C>A (p.Asp753Glu)
n.1176C>A
c.169C>A
c.2379C>A (p.Asp793Glu)
c.2310C>A (p.Asp770Glu)
c.2382C>A (p.Asp794Glu)
n.2628C>A
c.2364C>A (p.Asp788Glu)
c.1719C>A (p.Asp573Glu)
c.2313C>A (p.Asp771Glu)
c.2331C>A (p.Asp777Glu)
c.762C>A (p.Asp254Glu)
c.1173C>A (p.Asp391Glu)
c.2274C>A (p.Asp758Glu)
c.2361C>A (p.Asp787Glu)
c.2292C>A (p.Asp764Glu)
c.1824C>A (p.Asp608Glu)
Xg.41531131T>ACA412990376CASKc.2345A>T (p.Asp782Val)
c.2342A>T (p.Asp781Val)
c.2396A>T (p.Asp799Val)
c.2294A>T (p.Asp765Val)
c.2399A>T (p.Asp800Val)
c.1016A>T (p.Asp339Val)
c.2327A>T (p.Asp776Val)
c.2258A>T (p.Asp753Val)
n.1175A>T
c.168A>T
c.2378A>T (p.Asp793Val)
c.2309A>T (p.Asp770Val)
c.2381A>T (p.Asp794Val)
n.2627A>T
c.2363A>T (p.Asp788Val)
c.1718A>T (p.Asp573Val)
c.2312A>T (p.Asp771Val)
c.2330A>T (p.Asp777Val)
c.761A>T (p.Asp254Val)
c.1172A>T (p.Asp391Val)
c.2273A>T (p.Asp758Val)
c.2360A>T (p.Asp787Val)
c.2291A>T (p.Asp764Val)
c.1823A>T (p.Asp608Val)
Xg.41531131T>CCA412990374CASKc.2345A>G (p.Asp782Gly)
c.2342A>G (p.Asp781Gly)
c.2396A>G (p.Asp799Gly)
c.2294A>G (p.Asp765Gly)
c.2399A>G (p.Asp800Gly)
c.1016A>G (p.Asp339Gly)
c.2327A>G (p.Asp776Gly)
c.2258A>G (p.Asp753Gly)
n.1175A>G
c.168A>G
c.2378A>G (p.Asp793Gly)
c.2309A>G (p.Asp770Gly)
c.2381A>G (p.Asp794Gly)
n.2627A>G
c.2363A>G (p.Asp788Gly)
c.1718A>G (p.Asp573Gly)
c.2312A>G (p.Asp771Gly)
c.2330A>G (p.Asp777Gly)
c.761A>G (p.Asp254Gly)
c.1172A>G (p.Asp391Gly)
c.2273A>G (p.Asp758Gly)
c.2360A>G (p.Asp787Gly)
c.2291A>G (p.Asp764Gly)
c.1823A>G (p.Asp608Gly)
Xg.41531131T>GCA412990373CASKc.2345A>C (p.Asp782Ala)
c.2342A>C (p.Asp781Ala)
c.2396A>C (p.Asp799Ala)
c.2294A>C (p.Asp765Ala)
c.2399A>C (p.Asp800Ala)
c.1016A>C (p.Asp339Ala)
c.2327A>C (p.Asp776Ala)
c.2258A>C (p.Asp753Ala)
n.1175A>C
c.168A>C
c.2378A>C (p.Asp793Ala)
c.2309A>C (p.Asp770Ala)
c.2381A>C (p.Asp794Ala)
n.2627A>C
c.2363A>C (p.Asp788Ala)
c.1718A>C (p.Asp573Ala)
c.2312A>C (p.Asp771Ala)
c.2330A>C (p.Asp777Ala)
c.761A>C (p.Asp254Ala)
c.1172A>C (p.Asp391Ala)
c.2273A>C (p.Asp758Ala)
c.2360A>C (p.Asp787Ala)
c.2291A>C (p.Asp764Ala)
c.1823A>C (p.Asp608Ala)
Xg.41531132C>ACA412990377CASKc.2344G>T (p.Asp782Tyr)
c.2341G>T (p.Asp781Tyr)
c.2395G>T (p.Asp799Tyr)
c.2293G>T (p.Asp765Tyr)
c.2398G>T (p.Asp800Tyr)
c.1015G>T (p.Asp339Tyr)
c.2326G>T (p.Asp776Tyr)
c.2257G>T (p.Asp753Tyr)
n.1174G>T
c.167G>T
c.2377G>T (p.Asp793Tyr)
c.2308G>T (p.Asp770Tyr)
c.2380G>T (p.Asp794Tyr)
n.2626G>T
c.2362G>T (p.Asp788Tyr)
c.1717G>T (p.Asp573Tyr)
c.2311G>T (p.Asp771Tyr)
c.2329G>T (p.Asp777Tyr)
c.760G>T (p.Asp254Tyr)
c.1171G>T (p.Asp391Tyr)
c.2272G>T (p.Asp758Tyr)
c.2359G>T (p.Asp787Tyr)
c.2290G>T (p.Asp764Tyr)
c.1822G>T (p.Asp608Tyr)
Xg.41531132C>GCA412990379CASKc.2344G>C (p.Asp782His)
c.2341G>C (p.Asp781His)
c.2395G>C (p.Asp799His)
c.2293G>C (p.Asp765His)
c.2398G>C (p.Asp800His)
c.1015G>C (p.Asp339His)
c.2326G>C (p.Asp776His)
c.2257G>C (p.Asp753His)
n.1174G>C
c.167G>C
c.2377G>C (p.Asp793His)
c.2308G>C (p.Asp770His)
c.2380G>C (p.Asp794His)
n.2626G>C
c.2362G>C (p.Asp788His)
c.1717G>C (p.Asp573His)
c.2311G>C (p.Asp771His)
c.2329G>C (p.Asp777His)
c.760G>C (p.Asp254His)
c.1171G>C (p.Asp391His)
c.2272G>C (p.Asp758His)
c.2359G>C (p.Asp787His)
c.2290G>C (p.Asp764His)
c.1822G>C (p.Asp608His)
Xg.41531132C>TCA412990380CASKc.2344G>A (p.Asp782Asn)
c.2341G>A (p.Asp781Asn)
c.2395G>A (p.Asp799Asn)
c.2293G>A (p.Asp765Asn)
c.2398G>A (p.Asp800Asn)
c.1015G>A (p.Asp339Asn)
c.2326G>A (p.Asp776Asn)
c.2257G>A (p.Asp753Asn)
n.1174G>A
c.167G>A
c.2377G>A (p.Asp793Asn)
c.2308G>A (p.Asp770Asn)
c.2380G>A (p.Asp794Asn)
n.2626G>A
c.2362G>A (p.Asp788Asn)
c.1717G>A (p.Asp573Asn)
c.2311G>A (p.Asp771Asn)
c.2329G>A (p.Asp777Asn)
c.760G>A (p.Asp254Asn)
c.1171G>A (p.Asp391Asn)
c.2272G>A (p.Asp758Asn)
c.2359G>A (p.Asp787Asn)
c.2290G>A (p.Asp764Asn)
c.1822G>A (p.Asp608Asn)
Xg.41531133T>ACA412990382CASKc.2343A>T (p.Gln781His)
c.2340A>T (p.Gln780His)
c.2394A>T (p.Gln798His)
c.2292A>T (p.Gln764His)
c.2397A>T (p.Gln799His)
c.1014A>T (p.Gln338His)
c.2325A>T (p.Gln775His)
c.2256A>T (p.Gln752His)
n.1173A>T
c.166A>T
c.2376A>T (p.Gln792His)
c.2307A>T (p.Gln769His)
c.2379A>T (p.Gln793His)
n.2625A>T
c.2361A>T (p.Gln787His)
c.1716A>T (p.Gln572His)
c.2310A>T (p.Gln770His)
c.2328A>T (p.Gln776His)
c.759A>T (p.Gln253His)
c.1170A>T (p.Gln390His)
c.2271A>T (p.Gln757His)
c.2358A>T (p.Gln786His)
c.2289A>T (p.Gln763His)
c.1821A>T (p.Gln607His)
Xg.41531133T>CCA516099368CASKc.2343A>G (p.Gln781=)
c.2340A>G (p.Gln780=)
c.2394A>G (p.Gln798=)
c.2292A>G (p.Gln764=)
c.2397A>G (p.Gln799=)
c.1014A>G (p.Gln338=)
c.2325A>G (p.Gln775=)
c.2256A>G (p.Gln752=)
n.1173A>G
c.166A>G
c.2376A>G (p.Gln792=)
c.2307A>G (p.Gln769=)
c.2379A>G (p.Gln793=)
n.2625A>G
c.2361A>G (p.Gln787=)
c.1716A>G (p.Gln572=)
c.2310A>G (p.Gln770=)
c.2328A>G (p.Gln776=)
c.759A>G (p.Gln253=)
c.1170A>G (p.Gln390=)
c.2271A>G (p.Gln757=)
c.2358A>G (p.Gln786=)
c.2289A>G (p.Gln763=)
c.1821A>G (p.Gln607=)
Xg.41531133T>GCA412990384CASKc.2343A>C (p.Gln781His)
c.2340A>C (p.Gln780His)
c.2394A>C (p.Gln798His)
c.2292A>C (p.Gln764His)
c.2397A>C (p.Gln799His)
c.1014A>C (p.Gln338His)
c.2325A>C (p.Gln775His)
c.2256A>C (p.Gln752His)
n.1173A>C
c.166A>C
c.2376A>C (p.Gln792His)
c.2307A>C (p.Gln769His)
c.2379A>C (p.Gln793His)
n.2625A>C
c.2361A>C (p.Gln787His)
c.1716A>C (p.Gln572His)
c.2310A>C (p.Gln770His)
c.2328A>C (p.Gln776His)
c.759A>C (p.Gln253His)
c.1170A>C (p.Gln390His)
c.2271A>C (p.Gln757His)
c.2358A>C (p.Gln786His)
c.2289A>C (p.Gln763His)
c.1821A>C (p.Gln607His)
Xg.41531134T>ACA412990388CASKc.2342A>T (p.Gln781Leu)
c.2339A>T (p.Gln780Leu)
c.2393A>T (p.Gln798Leu)
c.2291A>T (p.Gln764Leu)
c.2396A>T (p.Gln799Leu)
c.1013A>T (p.Gln338Leu)
c.2324A>T (p.Gln775Leu)
c.2255A>T (p.Gln752Leu)
n.1172A>T
c.165A>T
c.2375A>T (p.Gln792Leu)
c.2306A>T (p.Gln769Leu)
c.2378A>T (p.Gln793Leu)
n.2624A>T
c.2360A>T (p.Gln787Leu)
c.1715A>T (p.Gln572Leu)
c.2309A>T (p.Gln770Leu)
c.2327A>T (p.Gln776Leu)
c.758A>T (p.Gln253Leu)
c.1169A>T (p.Gln390Leu)
c.2270A>T (p.Gln757Leu)
c.2357A>T (p.Gln786Leu)
c.2288A>T (p.Gln763Leu)
c.1820A>T (p.Gln607Leu)
Xg.41531134T>CCA412990387CASKc.2342A>G (p.Gln781Arg)
c.2339A>G (p.Gln780Arg)
c.2393A>G (p.Gln798Arg)
c.2291A>G (p.Gln764Arg)
c.2396A>G (p.Gln799Arg)
c.1013A>G (p.Gln338Arg)
c.2324A>G (p.Gln775Arg)
c.2255A>G (p.Gln752Arg)
n.1172A>G
c.165A>G
c.2375A>G (p.Gln792Arg)
c.2306A>G (p.Gln769Arg)
c.2378A>G (p.Gln793Arg)
n.2624A>G
c.2360A>G (p.Gln787Arg)
c.1715A>G (p.Gln572Arg)
c.2309A>G (p.Gln770Arg)
c.2327A>G (p.Gln776Arg)
c.758A>G (p.Gln253Arg)
c.1169A>G (p.Gln390Arg)
c.2270A>G (p.Gln757Arg)
c.2357A>G (p.Gln786Arg)
c.2288A>G (p.Gln763Arg)
c.1820A>G (p.Gln607Arg)
Xg.41531134T>GCA412990386CASKc.2342A>C (p.Gln781Pro)
c.2339A>C (p.Gln780Pro)
c.2393A>C (p.Gln798Pro)
c.2291A>C (p.Gln764Pro)
c.2396A>C (p.Gln799Pro)
c.1013A>C (p.Gln338Pro)
c.2324A>C (p.Gln775Pro)
c.2255A>C (p.Gln752Pro)
n.1172A>C
c.165A>C
c.2375A>C (p.Gln792Pro)
c.2306A>C (p.Gln769Pro)
c.2378A>C (p.Gln793Pro)
n.2624A>C
c.2360A>C (p.Gln787Pro)
c.1715A>C (p.Gln572Pro)
c.2309A>C (p.Gln770Pro)
c.2327A>C (p.Gln776Pro)
c.758A>C (p.Gln253Pro)
c.1169A>C (p.Gln390Pro)
c.2270A>C (p.Gln757Pro)
c.2357A>C (p.Gln786Pro)
c.2288A>C (p.Gln763Pro)
c.1820A>C (p.Gln607Pro)
Xg.41531135G>ACA251308CASKc.2341C>T (p.Gln781Ter)
c.2338C>T (p.Gln780Ter)
c.2392C>T (p.Gln798Ter)
c.2290C>T (p.Gln764Ter)
c.2395C>T (p.Gln799Ter)
c.1012C>T (p.Gln338Ter)
c.2323C>T (p.Gln775Ter)
c.2254C>T (p.Gln752Ter)
n.1171C>T
c.164C>T
c.2374C>T (p.Gln792Ter)
c.2305C>T (p.Gln769Ter)
c.2377C>T (p.Gln793Ter)
n.2623C>T
c.2359C>T (p.Gln787Ter)
c.1714C>T (p.Gln572Ter)
c.2308C>T (p.Gln770Ter)
c.2326C>T (p.Gln776Ter)
c.757C>T (p.Gln253Ter)
c.1168C>T (p.Gln390Ter)
c.2269C>T (p.Gln757Ter)
c.2356C>T (p.Gln786Ter)
c.2287C>T (p.Gln763Ter)
c.1819C>T (p.Gln607Ter)
 ClinVar dbSNP
Xg.41531135G>CCA10390028CASKc.2341C>G (p.Gln781Glu)
c.2338C>G (p.Gln780Glu)
c.2392C>G (p.Gln798Glu)
c.2290C>G (p.Gln764Glu)
c.2395C>G (p.Gln799Glu)
c.1012C>G (p.Gln338Glu)
c.2323C>G (p.Gln775Glu)
c.2254C>G (p.Gln752Glu)
n.1171C>G
c.164C>G
c.2374C>G (p.Gln792Glu)
c.2305C>G (p.Gln769Glu)
c.2377C>G (p.Gln793Glu)
n.2623C>G
c.2359C>G (p.Gln787Glu)
c.1714C>G (p.Gln572Glu)
c.2308C>G (p.Gln770Glu)
c.2326C>G (p.Gln776Glu)
c.757C>G (p.Gln253Glu)
c.1168C>G (p.Gln390Glu)
c.2269C>G (p.Gln757Glu)
c.2356C>G (p.Gln786Glu)
c.2287C>G (p.Gln763Glu)
c.1819C>G (p.Gln607Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531135G=CA2425947703CASKc.2341C= (p.Gln781=)
c.2338C= (p.Gln780=)
c.2392C= (p.Gln798=)
c.2290C= (p.Gln764=)
c.2395C= (p.Gln799=)
c.1012C= (p.Gln338=)
c.2323C= (p.Gln775=)
c.2254C= (p.Gln752=)
n.1171C=
c.164C=
c.2374C= (p.Gln792=)
c.2305C= (p.Gln769=)
c.2377C= (p.Gln793=)
n.2623C=
c.2359C= (p.Gln787=)
c.1714C= (p.Gln572=)
c.2308C= (p.Gln770=)
c.2326C= (p.Gln776=)
c.757C= (p.Gln253=)
c.1168C= (p.Gln390=)
c.2269C= (p.Gln757=)
c.2356C= (p.Gln786=)
c.2287C= (p.Gln763=)
c.1819C= (p.Gln607=)
Xg.41531135G>TCA412990392CASKc.2341C>A (p.Gln781Lys)
c.2338C>A (p.Gln780Lys)
c.2392C>A (p.Gln798Lys)
c.2290C>A (p.Gln764Lys)
c.2395C>A (p.Gln799Lys)
c.1012C>A (p.Gln338Lys)
c.2323C>A (p.Gln775Lys)
c.2254C>A (p.Gln752Lys)
n.1171C>A
c.164C>A
c.2374C>A (p.Gln792Lys)
c.2305C>A (p.Gln769Lys)
c.2377C>A (p.Gln793Lys)
n.2623C>A
c.2359C>A (p.Gln787Lys)
c.1714C>A (p.Gln572Lys)
c.2308C>A (p.Gln770Lys)
c.2326C>A (p.Gln776Lys)
c.757C>A (p.Gln253Lys)
c.1168C>A (p.Gln390Lys)
c.2269C>A (p.Gln757Lys)
c.2356C>A (p.Gln786Lys)
c.2287C>A (p.Gln763Lys)
c.1819C>A (p.Gln607Lys)
Xg.41531136C>ACA412990393CASKc.2340G>T (p.Met780Ile)
c.2337G>T (p.Met779Ile)
c.2391G>T (p.Met797Ile)
c.2289G>T (p.Met763Ile)
c.2394G>T (p.Met798Ile)
c.1011G>T (p.Met337Ile)
c.2322G>T (p.Met774Ile)
c.2253G>T (p.Met751Ile)
n.1170G>T
c.163G>T
c.2373G>T (p.Met791Ile)
c.2304G>T (p.Met768Ile)
c.2376G>T (p.Met792Ile)
n.2622G>T
c.2358G>T (p.Met786Ile)
c.1713G>T (p.Met571Ile)
c.2307G>T (p.Met769Ile)
c.2325G>T (p.Met775Ile)
c.756G>T (p.Met252Ile)
c.1167G>T (p.Met389Ile)
c.2268G>T (p.Met756Ile)
c.2355G>T (p.Met785Ile)
c.2286G>T (p.Met762Ile)
c.1818G>T (p.Met606Ile)
Xg.41531136C>GCA412990395CASKc.2340G>C (p.Met780Ile)
c.2337G>C (p.Met779Ile)
c.2391G>C (p.Met797Ile)
c.2289G>C (p.Met763Ile)
c.2394G>C (p.Met798Ile)
c.1011G>C (p.Met337Ile)
c.2322G>C (p.Met774Ile)
c.2253G>C (p.Met751Ile)
n.1170G>C
c.163G>C
c.2373G>C (p.Met791Ile)
c.2304G>C (p.Met768Ile)
c.2376G>C (p.Met792Ile)
n.2622G>C
c.2358G>C (p.Met786Ile)
c.1713G>C (p.Met571Ile)
c.2307G>C (p.Met769Ile)
c.2325G>C (p.Met775Ile)
c.756G>C (p.Met252Ile)
c.1167G>C (p.Met389Ile)
c.2268G>C (p.Met756Ile)
c.2355G>C (p.Met785Ile)
c.2286G>C (p.Met762Ile)
c.1818G>C (p.Met606Ile)
Xg.41531136C>TCA412990397CASKc.2340G>A (p.Met780Ile)
c.2337G>A (p.Met779Ile)
c.2391G>A (p.Met797Ile)
c.2289G>A (p.Met763Ile)
c.2394G>A (p.Met798Ile)
c.1011G>A (p.Met337Ile)
c.2322G>A (p.Met774Ile)
c.2253G>A (p.Met751Ile)
n.1170G>A
c.163G>A
c.2373G>A (p.Met791Ile)
c.2304G>A (p.Met768Ile)
c.2376G>A (p.Met792Ile)
n.2622G>A
c.2358G>A (p.Met786Ile)
c.1713G>A (p.Met571Ile)
c.2307G>A (p.Met769Ile)
c.2325G>A (p.Met775Ile)
c.756G>A (p.Met252Ile)
c.1167G>A (p.Met389Ile)
c.2268G>A (p.Met756Ile)
c.2355G>A (p.Met785Ile)
c.2286G>A (p.Met762Ile)
c.1818G>A (p.Met606Ile)
Xg.41531137A=CA2425947704CASKc.2339T= (p.Met780=)
c.2336T= (p.Met779=)
c.2390T= (p.Met797=)
c.2288T= (p.Met763=)
c.2393T= (p.Met798=)
c.1010T= (p.Met337=)
c.2321T= (p.Met774=)
c.2252T= (p.Met751=)
n.1169T=
c.162T=
c.2372T= (p.Met791=)
c.2303T= (p.Met768=)
c.2375T= (p.Met792=)
n.2621T=
c.2357T= (p.Met786=)
c.1712T= (p.Met571=)
c.2306T= (p.Met769=)
c.2324T= (p.Met775=)
c.755T= (p.Met252=)
c.1166T= (p.Met389=)
c.2267T= (p.Met756=)
c.2354T= (p.Met785=)
c.2285T= (p.Met762=)
c.1817T= (p.Met606=)
Xg.41531137A>CCA412990398CASKc.2339T>G (p.Met780Arg)
c.2336T>G (p.Met779Arg)
c.2390T>G (p.Met797Arg)
c.2288T>G (p.Met763Arg)
c.2393T>G (p.Met798Arg)
c.1010T>G (p.Met337Arg)
c.2321T>G (p.Met774Arg)
c.2252T>G (p.Met751Arg)
n.1169T>G
c.162T>G
c.2372T>G (p.Met791Arg)
c.2303T>G (p.Met768Arg)
c.2375T>G (p.Met792Arg)
n.2621T>G
c.2357T>G (p.Met786Arg)
c.1712T>G (p.Met571Arg)
c.2306T>G (p.Met769Arg)
c.2324T>G (p.Met775Arg)
c.755T>G (p.Met252Arg)
c.1166T>G (p.Met389Arg)
c.2267T>G (p.Met756Arg)
c.2354T>G (p.Met785Arg)
c.2285T>G (p.Met762Arg)
c.1817T>G (p.Met606Arg)
Xg.41531137A>GCA10390029CASKc.2339T>C (p.Met780Thr)
c.2336T>C (p.Met779Thr)
c.2390T>C (p.Met797Thr)
c.2288T>C (p.Met763Thr)
c.2393T>C (p.Met798Thr)
c.1010T>C (p.Met337Thr)
c.2321T>C (p.Met774Thr)
c.2252T>C (p.Met751Thr)
n.1169T>C
c.162T>C
c.2372T>C (p.Met791Thr)
c.2303T>C (p.Met768Thr)
c.2375T>C (p.Met792Thr)
n.2621T>C
c.2357T>C (p.Met786Thr)
c.1712T>C (p.Met571Thr)
c.2306T>C (p.Met769Thr)
c.2324T>C (p.Met775Thr)
c.755T>C (p.Met252Thr)
c.1166T>C (p.Met389Thr)
c.2267T>C (p.Met756Thr)
c.2354T>C (p.Met785Thr)
c.2285T>C (p.Met762Thr)
c.1817T>C (p.Met606Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531137A>TCA412990400CASKc.2339T>A (p.Met780Lys)
c.2336T>A (p.Met779Lys)
c.2390T>A (p.Met797Lys)
c.2288T>A (p.Met763Lys)
c.2393T>A (p.Met798Lys)
c.1010T>A (p.Met337Lys)
c.2321T>A (p.Met774Lys)
c.2252T>A (p.Met751Lys)
n.1169T>A
c.162T>A
c.2372T>A (p.Met791Lys)
c.2303T>A (p.Met768Lys)
c.2375T>A (p.Met792Lys)
n.2621T>A
c.2357T>A (p.Met786Lys)
c.1712T>A (p.Met571Lys)
c.2306T>A (p.Met769Lys)
c.2324T>A (p.Met775Lys)
c.755T>A (p.Met252Lys)
c.1166T>A (p.Met389Lys)
c.2267T>A (p.Met756Lys)
c.2354T>A (p.Met785Lys)
c.2285T>A (p.Met762Lys)
c.1817T>A (p.Met606Lys)
Xg.41531138T>ACA412990403CASKc.2338A>T (p.Met780Leu)
c.2335A>T (p.Met779Leu)
c.2389A>T (p.Met797Leu)
c.2287A>T (p.Met763Leu)
c.2392A>T (p.Met798Leu)
c.1009A>T (p.Met337Leu)
c.2320A>T (p.Met774Leu)
c.2251A>T (p.Met751Leu)
n.1168A>T
c.161A>T
c.2371A>T (p.Met791Leu)
c.2302A>T (p.Met768Leu)
c.2374A>T (p.Met792Leu)
n.2620A>T
c.2356A>T (p.Met786Leu)
c.1711A>T (p.Met571Leu)
c.2305A>T (p.Met769Leu)
c.2323A>T (p.Met775Leu)
c.754A>T (p.Met252Leu)
c.1165A>T (p.Met389Leu)
c.2266A>T (p.Met756Leu)
c.2353A>T (p.Met785Leu)
c.2284A>T (p.Met762Leu)
c.1816A>T (p.Met606Leu)
Xg.41531138T>CCA412990404CASKc.2338A>G (p.Met780Val)
c.2335A>G (p.Met779Val)
c.2389A>G (p.Met797Val)
c.2287A>G (p.Met763Val)
c.2392A>G (p.Met798Val)
c.1009A>G (p.Met337Val)
c.2320A>G (p.Met774Val)
c.2251A>G (p.Met751Val)
n.1168A>G
c.161A>G
c.2371A>G (p.Met791Val)
c.2302A>G (p.Met768Val)
c.2374A>G (p.Met792Val)
n.2620A>G
c.2356A>G (p.Met786Val)
c.1711A>G (p.Met571Val)
c.2305A>G (p.Met769Val)
c.2323A>G (p.Met775Val)
c.754A>G (p.Met252Val)
c.1165A>G (p.Met389Val)
c.2266A>G (p.Met756Val)
c.2353A>G (p.Met785Val)
c.2284A>G (p.Met762Val)
c.1816A>G (p.Met606Val)
 gnomAD v4
Xg.41531138T>GCA412990405CASKc.2338A>C (p.Met780Leu)
c.2335A>C (p.Met779Leu)
c.2389A>C (p.Met797Leu)
c.2287A>C (p.Met763Leu)
c.2392A>C (p.Met798Leu)
c.1009A>C (p.Met337Leu)
c.2320A>C (p.Met774Leu)
c.2251A>C (p.Met751Leu)
n.1168A>C
c.161A>C
c.2371A>C (p.Met791Leu)
c.2302A>C (p.Met768Leu)
c.2374A>C (p.Met792Leu)
n.2620A>C
c.2356A>C (p.Met786Leu)
c.1711A>C (p.Met571Leu)
c.2305A>C (p.Met769Leu)
c.2323A>C (p.Met775Leu)
c.754A>C (p.Met252Leu)
c.1165A>C (p.Met389Leu)
c.2266A>C (p.Met756Leu)
c.2353A>C (p.Met785Leu)
c.2284A>C (p.Met762Leu)
c.1816A>C (p.Met606Leu)
Xg.41531139C>ACA412990408CASKc.2337G>T (p.Met779Ile)
c.2334G>T (p.Met778Ile)
c.2388G>T (p.Met796Ile)
c.2286G>T (p.Met762Ile)
c.2391G>T (p.Met797Ile)
c.1008G>T (p.Met336Ile)
c.2319G>T (p.Met773Ile)
c.2250G>T (p.Met750Ile)
n.1167G>T
c.160G>T
c.2370G>T (p.Met790Ile)
c.2301G>T (p.Met767Ile)
c.2373G>T (p.Met791Ile)
n.2619G>T
c.2355G>T (p.Met785Ile)
c.1710G>T (p.Met570Ile)
c.2304G>T (p.Met768Ile)
c.2322G>T (p.Met774Ile)
c.753G>T (p.Met251Ile)
c.1164G>T (p.Met388Ile)
c.2265G>T (p.Met755Ile)
c.2352G>T (p.Met784Ile)
c.2283G>T (p.Met761Ile)
c.1815G>T (p.Met605Ile)
Xg.41531139C>GCA412990410CASKc.2337G>C (p.Met779Ile)
c.2334G>C (p.Met778Ile)
c.2388G>C (p.Met796Ile)
c.2286G>C (p.Met762Ile)
c.2391G>C (p.Met797Ile)
c.1008G>C (p.Met336Ile)
c.2319G>C (p.Met773Ile)
c.2250G>C (p.Met750Ile)
n.1167G>C
c.160G>C
c.2370G>C (p.Met790Ile)
c.2301G>C (p.Met767Ile)
c.2373G>C (p.Met791Ile)
n.2619G>C
c.2355G>C (p.Met785Ile)
c.1710G>C (p.Met570Ile)
c.2304G>C (p.Met768Ile)
c.2322G>C (p.Met774Ile)
c.753G>C (p.Met251Ile)
c.1164G>C (p.Met388Ile)
c.2265G>C (p.Met755Ile)
c.2352G>C (p.Met784Ile)
c.2283G>C (p.Met761Ile)
c.1815G>C (p.Met605Ile)
Xg.41531139C>TCA412990411CASKc.2337G>A (p.Met779Ile)
c.2334G>A (p.Met778Ile)
c.2388G>A (p.Met796Ile)
c.2286G>A (p.Met762Ile)
c.2391G>A (p.Met797Ile)
c.1008G>A (p.Met336Ile)
c.2319G>A (p.Met773Ile)
c.2250G>A (p.Met750Ile)
n.1167G>A
c.160G>A
c.2370G>A (p.Met790Ile)
c.2301G>A (p.Met767Ile)
c.2373G>A (p.Met791Ile)
n.2619G>A
c.2355G>A (p.Met785Ile)
c.1710G>A (p.Met570Ile)
c.2304G>A (p.Met768Ile)
c.2322G>A (p.Met774Ile)
c.753G>A (p.Met251Ile)
c.1164G>A (p.Met388Ile)
c.2265G>A (p.Met755Ile)
c.2352G>A (p.Met784Ile)
c.2283G>A (p.Met761Ile)
c.1815G>A (p.Met605Ile)
Xg.41531140A>CCA412990413CASKc.2336T>G (p.Met779Arg)
c.2333T>G (p.Met778Arg)
c.2387T>G (p.Met796Arg)
c.2285T>G (p.Met762Arg)
c.2390T>G (p.Met797Arg)
c.1007T>G (p.Met336Arg)
c.2318T>G (p.Met773Arg)
c.2249T>G (p.Met750Arg)
n.1166T>G
c.159T>G
c.2369T>G (p.Met790Arg)
c.2300T>G (p.Met767Arg)
c.2372T>G (p.Met791Arg)
n.2618T>G
c.2354T>G (p.Met785Arg)
c.1709T>G (p.Met570Arg)
c.2303T>G (p.Met768Arg)
c.2321T>G (p.Met774Arg)
c.752T>G (p.Met251Arg)
c.1163T>G (p.Met388Arg)
c.2264T>G (p.Met755Arg)
c.2351T>G (p.Met784Arg)
c.2282T>G (p.Met761Arg)
c.1814T>G (p.Met605Arg)
Xg.41531140A>GCA412990414CASKc.2336T>C (p.Met779Thr)
c.2333T>C (p.Met778Thr)
c.2387T>C (p.Met796Thr)
c.2285T>C (p.Met762Thr)
c.2390T>C (p.Met797Thr)
c.1007T>C (p.Met336Thr)
c.2318T>C (p.Met773Thr)
c.2249T>C (p.Met750Thr)
n.1166T>C
c.159T>C
c.2369T>C (p.Met790Thr)
c.2300T>C (p.Met767Thr)
c.2372T>C (p.Met791Thr)
n.2618T>C
c.2354T>C (p.Met785Thr)
c.1709T>C (p.Met570Thr)
c.2303T>C (p.Met768Thr)
c.2321T>C (p.Met774Thr)
c.752T>C (p.Met251Thr)
c.1163T>C (p.Met388Thr)
c.2264T>C (p.Met755Thr)
c.2351T>C (p.Met784Thr)
c.2282T>C (p.Met761Thr)
c.1814T>C (p.Met605Thr)
Xg.41531140A>TCA412990416CASKc.2336T>A (p.Met779Lys)
c.2333T>A (p.Met778Lys)
c.2387T>A (p.Met796Lys)
c.2285T>A (p.Met762Lys)
c.2390T>A (p.Met797Lys)
c.1007T>A (p.Met336Lys)
c.2318T>A (p.Met773Lys)
c.2249T>A (p.Met750Lys)
n.1166T>A
c.159T>A
c.2369T>A (p.Met790Lys)
c.2300T>A (p.Met767Lys)
c.2372T>A (p.Met791Lys)
n.2618T>A
c.2354T>A (p.Met785Lys)
c.1709T>A (p.Met570Lys)
c.2303T>A (p.Met768Lys)
c.2321T>A (p.Met774Lys)
c.752T>A (p.Met251Lys)
c.1163T>A (p.Met388Lys)
c.2264T>A (p.Met755Lys)
c.2351T>A (p.Met784Lys)
c.2282T>A (p.Met761Lys)
c.1814T>A (p.Met605Lys)
Xg.41531141T>ACA412990418CASKc.2335A>T (p.Met779Leu)
c.2332A>T (p.Met778Leu)
c.2386A>T (p.Met796Leu)
c.2284A>T (p.Met762Leu)
c.2389A>T (p.Met797Leu)
c.1006A>T (p.Met336Leu)
c.2317A>T (p.Met773Leu)
c.2248A>T (p.Met750Leu)
n.1165A>T
c.158A>T
c.2368A>T (p.Met790Leu)
c.2299A>T (p.Met767Leu)
c.2371A>T (p.Met791Leu)
n.2617A>T
c.2353A>T (p.Met785Leu)
c.1708A>T (p.Met570Leu)
c.2302A>T (p.Met768Leu)
c.2320A>T (p.Met774Leu)
c.751A>T (p.Met251Leu)
c.1162A>T (p.Met388Leu)
c.2263A>T (p.Met755Leu)
c.2350A>T (p.Met784Leu)
c.2281A>T (p.Met761Leu)
c.1813A>T (p.Met605Leu)
Xg.41531141T>CCA412990420CASKc.2335A>G (p.Met779Val)
c.2332A>G (p.Met778Val)
c.2386A>G (p.Met796Val)
c.2284A>G (p.Met762Val)
c.2389A>G (p.Met797Val)
c.1006A>G (p.Met336Val)
c.2317A>G (p.Met773Val)
c.2248A>G (p.Met750Val)
n.1165A>G
c.158A>G
c.2368A>G (p.Met790Val)
c.2299A>G (p.Met767Val)
c.2371A>G (p.Met791Val)
n.2617A>G
c.2353A>G (p.Met785Val)
c.1708A>G (p.Met570Val)
c.2302A>G (p.Met768Val)
c.2320A>G (p.Met774Val)
c.751A>G (p.Met251Val)
c.1162A>G (p.Met388Val)
c.2263A>G (p.Met755Val)
c.2350A>G (p.Met784Val)
c.2281A>G (p.Met761Val)
c.1813A>G (p.Met605Val)
Xg.41531141T>GCA412990422CASKc.2335A>C (p.Met779Leu)
c.2332A>C (p.Met778Leu)
c.2386A>C (p.Met796Leu)
c.2284A>C (p.Met762Leu)
c.2389A>C (p.Met797Leu)
c.1006A>C (p.Met336Leu)
c.2317A>C (p.Met773Leu)
c.2248A>C (p.Met750Leu)
n.1165A>C
c.158A>C
c.2368A>C (p.Met790Leu)
c.2299A>C (p.Met767Leu)
c.2371A>C (p.Met791Leu)
n.2617A>C
c.2353A>C (p.Met785Leu)
c.1708A>C (p.Met570Leu)
c.2302A>C (p.Met768Leu)
c.2320A>C (p.Met774Leu)
c.751A>C (p.Met251Leu)
c.1162A>C (p.Met388Leu)
c.2263A>C (p.Met755Leu)
c.2350A>C (p.Met784Leu)
c.2281A>C (p.Met761Leu)
c.1813A>C (p.Met605Leu)
Xg.41531142T>ACA412990424CASKc.2334A>T (p.Gln778His)
c.2331A>T (p.Gln777His)
c.2385A>T (p.Gln795His)
c.2283A>T (p.Gln761His)
c.2388A>T (p.Gln796His)
c.1005A>T (p.Gln335His)
c.2316A>T (p.Gln772His)
c.2247A>T (p.Gln749His)
n.1164A>T
c.157A>T
c.2367A>T (p.Gln789His)
c.2298A>T (p.Gln766His)
c.2370A>T (p.Gln790His)
n.2616A>T
c.2352A>T (p.Gln784His)
c.1707A>T (p.Gln569His)
c.2301A>T (p.Gln767His)
c.2319A>T (p.Gln773His)
c.750A>T (p.Gln250His)
c.1161A>T (p.Gln387His)
c.2262A>T (p.Gln754His)
c.2349A>T (p.Gln783His)
c.2280A>T (p.Gln760His)
c.1812A>T (p.Gln604His)
Xg.41531142T>CCA516099405CASKc.2334A>G (p.Gln778=)
c.2331A>G (p.Gln777=)
c.2385A>G (p.Gln795=)
c.2283A>G (p.Gln761=)
c.2388A>G (p.Gln796=)
c.1005A>G (p.Gln335=)
c.2316A>G (p.Gln772=)
c.2247A>G (p.Gln749=)
n.1164A>G
c.157A>G
c.2367A>G (p.Gln789=)
c.2298A>G (p.Gln766=)
c.2370A>G (p.Gln790=)
n.2616A>G
c.2352A>G (p.Gln784=)
c.1707A>G (p.Gln569=)
c.2301A>G (p.Gln767=)
c.2319A>G (p.Gln773=)
c.750A>G (p.Gln250=)
c.1161A>G (p.Gln387=)
c.2262A>G (p.Gln754=)
c.2349A>G (p.Gln783=)
c.2280A>G (p.Gln760=)
c.1812A>G (p.Gln604=)
Xg.41531142T>GCA412990423CASKc.2334A>C (p.Gln778His)
c.2331A>C (p.Gln777His)
c.2385A>C (p.Gln795His)
c.2283A>C (p.Gln761His)
c.2388A>C (p.Gln796His)
c.1005A>C (p.Gln335His)
c.2316A>C (p.Gln772His)
c.2247A>C (p.Gln749His)
n.1164A>C
c.157A>C
c.2367A>C (p.Gln789His)
c.2298A>C (p.Gln766His)
c.2370A>C (p.Gln790His)
n.2616A>C
c.2352A>C (p.Gln784His)
c.1707A>C (p.Gln569His)
c.2301A>C (p.Gln767His)
c.2319A>C (p.Gln773His)
c.750A>C (p.Gln250His)
c.1161A>C (p.Gln387His)
c.2262A>C (p.Gln754His)
c.2349A>C (p.Gln783His)
c.2280A>C (p.Gln760His)
c.1812A>C (p.Gln604His)
 COSMIC COSMIC
Xg.41531143T>ACA412990425CASKc.2333A>T (p.Gln778Leu)
c.2330A>T (p.Gln777Leu)
c.2384A>T (p.Gln795Leu)
c.2282A>T (p.Gln761Leu)
c.2387A>T (p.Gln796Leu)
c.1004A>T (p.Gln335Leu)
c.2315A>T (p.Gln772Leu)
c.2246A>T (p.Gln749Leu)
n.1163A>T
c.156A>T
c.2366A>T (p.Gln789Leu)
c.2297A>T (p.Gln766Leu)
c.2369A>T (p.Gln790Leu)
n.2615A>T
c.2351A>T (p.Gln784Leu)
c.1706A>T (p.Gln569Leu)
c.2300A>T (p.Gln767Leu)
c.2318A>T (p.Gln773Leu)
c.749A>T (p.Gln250Leu)
c.1160A>T (p.Gln387Leu)
c.2261A>T (p.Gln754Leu)
c.2348A>T (p.Gln783Leu)
c.2279A>T (p.Gln760Leu)
c.1811A>T (p.Gln604Leu)
Xg.41531143T>CCA412990429CASKc.2333A>G (p.Gln778Arg)
c.2330A>G (p.Gln777Arg)
c.2384A>G (p.Gln795Arg)
c.2282A>G (p.Gln761Arg)
c.2387A>G (p.Gln796Arg)
c.1004A>G (p.Gln335Arg)
c.2315A>G (p.Gln772Arg)
c.2246A>G (p.Gln749Arg)
n.1163A>G
c.156A>G
c.2366A>G (p.Gln789Arg)
c.2297A>G (p.Gln766Arg)
c.2369A>G (p.Gln790Arg)
n.2615A>G
c.2351A>G (p.Gln784Arg)
c.1706A>G (p.Gln569Arg)
c.2300A>G (p.Gln767Arg)
c.2318A>G (p.Gln773Arg)
c.749A>G (p.Gln250Arg)
c.1160A>G (p.Gln387Arg)
c.2261A>G (p.Gln754Arg)
c.2348A>G (p.Gln783Arg)
c.2279A>G (p.Gln760Arg)
c.1811A>G (p.Gln604Arg)
 ClinVar dbSNP
Xg.41531143T>GCA412990427CASKc.2333A>C (p.Gln778Pro)
c.2330A>C (p.Gln777Pro)
c.2384A>C (p.Gln795Pro)
c.2282A>C (p.Gln761Pro)
c.2387A>C (p.Gln796Pro)
c.1004A>C (p.Gln335Pro)
c.2315A>C (p.Gln772Pro)
c.2246A>C (p.Gln749Pro)
n.1163A>C
c.156A>C
c.2366A>C (p.Gln789Pro)
c.2297A>C (p.Gln766Pro)
c.2369A>C (p.Gln790Pro)
n.2615A>C
c.2351A>C (p.Gln784Pro)
c.1706A>C (p.Gln569Pro)
c.2300A>C (p.Gln767Pro)
c.2318A>C (p.Gln773Pro)
c.749A>C (p.Gln250Pro)
c.1160A>C (p.Gln387Pro)
c.2261A>C (p.Gln754Pro)
c.2348A>C (p.Gln783Pro)
c.2279A>C (p.Gln760Pro)
c.1811A>C (p.Gln604Pro)
Xg.41531144G>ACA16043270CASKc.2332C>T (p.Gln778Ter)
c.2329C>T (p.Gln777Ter)
c.2383C>T (p.Gln795Ter)
c.2281C>T (p.Gln761Ter)
c.2386C>T (p.Gln796Ter)
c.1003C>T (p.Gln335Ter)
c.2314C>T (p.Gln772Ter)
c.2245C>T (p.Gln749Ter)
n.1162C>T
c.155C>T
c.2365C>T (p.Gln789Ter)
c.2296C>T (p.Gln766Ter)
c.2368C>T (p.Gln790Ter)
n.2614C>T
c.2350C>T (p.Gln784Ter)
c.1705C>T (p.Gln569Ter)
c.2299C>T (p.Gln767Ter)
c.2317C>T (p.Gln773Ter)
c.748C>T (p.Gln250Ter)
c.1159C>T (p.Gln387Ter)
c.2260C>T (p.Gln754Ter)
c.2347C>T (p.Gln783Ter)
c.2278C>T (p.Gln760Ter)
c.1810C>T (p.Gln604Ter)
 ClinVar dbSNP
Xg.41531144G>CCA412990432CASKc.2332C>G (p.Gln778Glu)
c.2329C>G (p.Gln777Glu)
c.2383C>G (p.Gln795Glu)
c.2281C>G (p.Gln761Glu)
c.2386C>G (p.Gln796Glu)
c.1003C>G (p.Gln335Glu)
c.2314C>G (p.Gln772Glu)
c.2245C>G (p.Gln749Glu)
n.1162C>G
c.155C>G
c.2365C>G (p.Gln789Glu)
c.2296C>G (p.Gln766Glu)
c.2368C>G (p.Gln790Glu)
n.2614C>G
c.2350C>G (p.Gln784Glu)
c.1705C>G (p.Gln569Glu)
c.2299C>G (p.Gln767Glu)
c.2317C>G (p.Gln773Glu)
c.748C>G (p.Gln250Glu)
c.1159C>G (p.Gln387Glu)
c.2260C>G (p.Gln754Glu)
c.2347C>G (p.Gln783Glu)
c.2278C>G (p.Gln760Glu)
c.1810C>G (p.Gln604Glu)
Xg.41531144G=CA2425947705CASKc.2332C= (p.Gln778=)
c.2329C= (p.Gln777=)
c.2383C= (p.Gln795=)
c.2281C= (p.Gln761=)
c.2386C= (p.Gln796=)
c.1003C= (p.Gln335=)
c.2314C= (p.Gln772=)
c.2245C= (p.Gln749=)
n.1162C=
c.155C=
c.2365C= (p.Gln789=)
c.2296C= (p.Gln766=)
c.2368C= (p.Gln790=)
n.2614C=
c.2350C= (p.Gln784=)
c.1705C= (p.Gln569=)
c.2299C= (p.Gln767=)
c.2317C= (p.Gln773=)
c.748C= (p.Gln250=)
c.1159C= (p.Gln387=)
c.2260C= (p.Gln754=)
c.2347C= (p.Gln783=)
c.2278C= (p.Gln760=)
c.1810C= (p.Gln604=)
Xg.41531144G>TCA412990431CASKc.2332C>A (p.Gln778Lys)
c.2329C>A (p.Gln777Lys)
c.2383C>A (p.Gln795Lys)
c.2281C>A (p.Gln761Lys)
c.2386C>A (p.Gln796Lys)
c.1003C>A (p.Gln335Lys)
c.2314C>A (p.Gln772Lys)
c.2245C>A (p.Gln749Lys)
n.1162C>A
c.155C>A
c.2365C>A (p.Gln789Lys)
c.2296C>A (p.Gln766Lys)
c.2368C>A (p.Gln790Lys)
n.2614C>A
c.2350C>A (p.Gln784Lys)
c.1705C>A (p.Gln569Lys)
c.2299C>A (p.Gln767Lys)
c.2317C>A (p.Gln773Lys)
c.748C>A (p.Gln250Lys)
c.1159C>A (p.Gln387Lys)
c.2260C>A (p.Gln754Lys)
c.2347C>A (p.Gln783Lys)
c.2278C>A (p.Gln760Lys)
c.1810C>A (p.Gln604Lys)
Xg.41531145G>ACA516099419CASKc.2331C>T (p.Asp777=)
c.2328C>T (p.Asp776=)
c.2382C>T (p.Asp794=)
c.2280C>T (p.Asp760=)
c.2385C>T (p.Asp795=)
c.1002C>T (p.Asp334=)
c.2313C>T (p.Asp771=)
c.2244C>T (p.Asp748=)
n.1161C>T
c.154C>T
c.2364C>T (p.Asp788=)
c.2295C>T (p.Asp765=)
c.2367C>T (p.Asp789=)
n.2613C>T
c.2349C>T (p.Asp783=)
c.1704C>T (p.Asp568=)
c.2298C>T (p.Asp766=)
c.2316C>T (p.Asp772=)
c.747C>T (p.Asp249=)
c.1158C>T (p.Asp386=)
c.2259C>T (p.Asp753=)
c.2346C>T (p.Asp782=)
c.2277C>T (p.Asp759=)
c.1809C>T (p.Asp603=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531145G>CCA412990434CASKc.2331C>G (p.Asp777Glu)
c.2328C>G (p.Asp776Glu)
c.2382C>G (p.Asp794Glu)
c.2280C>G (p.Asp760Glu)
c.2385C>G (p.Asp795Glu)
c.1002C>G (p.Asp334Glu)
c.2313C>G (p.Asp771Glu)
c.2244C>G (p.Asp748Glu)
n.1161C>G
c.154C>G
c.2364C>G (p.Asp788Glu)
c.2295C>G (p.Asp765Glu)
c.2367C>G (p.Asp789Glu)
n.2613C>G
c.2349C>G (p.Asp783Glu)
c.1704C>G (p.Asp568Glu)
c.2298C>G (p.Asp766Glu)
c.2316C>G (p.Asp772Glu)
c.747C>G (p.Asp249Glu)
c.1158C>G (p.Asp386Glu)
c.2259C>G (p.Asp753Glu)
c.2346C>G (p.Asp782Glu)
c.2277C>G (p.Asp759Glu)
c.1809C>G (p.Asp603Glu)
 ClinVar dbSNP
Xg.41531145G=CA2425947706CASKc.2331C= (p.Asp777=)
c.2328C= (p.Asp776=)
c.2382C= (p.Asp794=)
c.2280C= (p.Asp760=)
c.2385C= (p.Asp795=)
c.1002C= (p.Asp334=)
c.2313C= (p.Asp771=)
c.2244C= (p.Asp748=)
n.1161C=
c.154C=
c.2364C= (p.Asp788=)
c.2295C= (p.Asp765=)
c.2367C= (p.Asp789=)
n.2613C=
c.2349C= (p.Asp783=)
c.1704C= (p.Asp568=)
c.2298C= (p.Asp766=)
c.2316C= (p.Asp772=)
c.747C= (p.Asp249=)
c.1158C= (p.Asp386=)
c.2259C= (p.Asp753=)
c.2346C= (p.Asp782=)
c.2277C= (p.Asp759=)
c.1809C= (p.Asp603=)
Xg.41531145G>TCA412990436CASKc.2331C>A (p.Asp777Glu)
c.2328C>A (p.Asp776Glu)
c.2382C>A (p.Asp794Glu)
c.2280C>A (p.Asp760Glu)
c.2385C>A (p.Asp795Glu)
c.1002C>A (p.Asp334Glu)
c.2313C>A (p.Asp771Glu)
c.2244C>A (p.Asp748Glu)
n.1161C>A
c.154C>A
c.2364C>A (p.Asp788Glu)
c.2295C>A (p.Asp765Glu)
c.2367C>A (p.Asp789Glu)
n.2613C>A
c.2349C>A (p.Asp783Glu)
c.1704C>A (p.Asp568Glu)
c.2298C>A (p.Asp766Glu)
c.2316C>A (p.Asp772Glu)
c.747C>A (p.Asp249Glu)
c.1158C>A (p.Asp386Glu)
c.2259C>A (p.Asp753Glu)
c.2346C>A (p.Asp782Glu)
c.2277C>A (p.Asp759Glu)
c.1809C>A (p.Asp603Glu)
Xg.41531146T>ACA412990437CASKc.2330A>T (p.Asp777Val)
c.2327A>T (p.Asp776Val)
c.2381A>T (p.Asp794Val)
c.2279A>T (p.Asp760Val)
c.2384A>T (p.Asp795Val)
c.1001A>T (p.Asp334Val)
c.2312A>T (p.Asp771Val)
c.2243A>T (p.Asp748Val)
n.1160A>T
c.153A>T
c.2363A>T (p.Asp788Val)
c.2294A>T (p.Asp765Val)
c.2366A>T (p.Asp789Val)
n.2612A>T
c.2348A>T (p.Asp783Val)
c.1703A>T (p.Asp568Val)
c.2297A>T (p.Asp766Val)
c.2315A>T (p.Asp772Val)
c.746A>T (p.Asp249Val)
c.1157A>T (p.Asp386Val)
c.2258A>T (p.Asp753Val)
c.2345A>T (p.Asp782Val)
c.2276A>T (p.Asp759Val)
c.1808A>T (p.Asp603Val)
 ClinVar dbSNP
Xg.41531146T>CCA412990440CASKc.2330A>G (p.Asp777Gly)
c.2327A>G (p.Asp776Gly)
c.2381A>G (p.Asp794Gly)
c.2279A>G (p.Asp760Gly)
c.2384A>G (p.Asp795Gly)
c.1001A>G (p.Asp334Gly)
c.2312A>G (p.Asp771Gly)
c.2243A>G (p.Asp748Gly)
n.1160A>G
c.153A>G
c.2363A>G (p.Asp788Gly)
c.2294A>G (p.Asp765Gly)
c.2366A>G (p.Asp789Gly)
n.2612A>G
c.2348A>G (p.Asp783Gly)
c.1703A>G (p.Asp568Gly)
c.2297A>G (p.Asp766Gly)
c.2315A>G (p.Asp772Gly)
c.746A>G (p.Asp249Gly)
c.1157A>G (p.Asp386Gly)
c.2258A>G (p.Asp753Gly)
c.2345A>G (p.Asp782Gly)
c.2276A>G (p.Asp759Gly)
c.1808A>G (p.Asp603Gly)
Xg.41531146T>GCA412990438CASKc.2330A>C (p.Asp777Ala)
c.2327A>C (p.Asp776Ala)
c.2381A>C (p.Asp794Ala)
c.2279A>C (p.Asp760Ala)
c.2384A>C (p.Asp795Ala)
c.1001A>C (p.Asp334Ala)
c.2312A>C (p.Asp771Ala)
c.2243A>C (p.Asp748Ala)
n.1160A>C
c.153A>C
c.2363A>C (p.Asp788Ala)
c.2294A>C (p.Asp765Ala)
c.2366A>C (p.Asp789Ala)
n.2612A>C
c.2348A>C (p.Asp783Ala)
c.1703A>C (p.Asp568Ala)
c.2297A>C (p.Asp766Ala)
c.2315A>C (p.Asp772Ala)
c.746A>C (p.Asp249Ala)
c.1157A>C (p.Asp386Ala)
c.2258A>C (p.Asp753Ala)
c.2345A>C (p.Asp782Ala)
c.2276A>C (p.Asp759Ala)
c.1808A>C (p.Asp603Ala)
Xg.41531146T=CA2425947707CASKc.2330A= (p.Asp777=)
c.2327A= (p.Asp776=)
c.2381A= (p.Asp794=)
c.2279A= (p.Asp760=)
c.2384A= (p.Asp795=)
c.1001A= (p.Asp334=)
c.2312A= (p.Asp771=)
c.2243A= (p.Asp748=)
n.1160A=
c.153A=
c.2363A= (p.Asp788=)
c.2294A= (p.Asp765=)
c.2366A= (p.Asp789=)
n.2612A=
c.2348A= (p.Asp783=)
c.1703A= (p.Asp568=)
c.2297A= (p.Asp766=)
c.2315A= (p.Asp772=)
c.746A= (p.Asp249=)
c.1157A= (p.Asp386=)
c.2258A= (p.Asp753=)
c.2345A= (p.Asp782=)
c.2276A= (p.Asp759=)
c.1808A= (p.Asp603=)
Xg.41531147C>ACA412990442CASKc.2329G>T (p.Asp777Tyr)
c.2326G>T (p.Asp776Tyr)
c.2380G>T (p.Asp794Tyr)
c.2278G>T (p.Asp760Tyr)
c.2383G>T (p.Asp795Tyr)
c.1000G>T (p.Asp334Tyr)
c.2311G>T (p.Asp771Tyr)
c.2242G>T (p.Asp748Tyr)
n.1159G>T
c.152G>T
c.2362G>T (p.Asp788Tyr)
c.2293G>T (p.Asp765Tyr)
c.2365G>T (p.Asp789Tyr)
n.2611G>T
c.2347G>T (p.Asp783Tyr)
c.1702G>T (p.Asp568Tyr)
c.2296G>T (p.Asp766Tyr)
c.2314G>T (p.Asp772Tyr)
c.745G>T (p.Asp249Tyr)
c.1156G>T (p.Asp386Tyr)
c.2257G>T (p.Asp753Tyr)
c.2344G>T (p.Asp782Tyr)
c.2275G>T (p.Asp759Tyr)
c.1807G>T (p.Asp603Tyr)
Xg.41531147C=CA2425947708CASKc.2329G= (p.Asp777=)
c.2326G= (p.Asp776=)
c.2380G= (p.Asp794=)
c.2278G= (p.Asp760=)
c.2383G= (p.Asp795=)
c.1000G= (p.Asp334=)
c.2311G= (p.Asp771=)
c.2242G= (p.Asp748=)
n.1159G=
c.152G=
c.2362G= (p.Asp788=)
c.2293G= (p.Asp765=)
c.2365G= (p.Asp789=)
n.2611G=
c.2347G= (p.Asp783=)
c.1702G= (p.Asp568=)
c.2296G= (p.Asp766=)
c.2314G= (p.Asp772=)
c.745G= (p.Asp249=)
c.1156G= (p.Asp386=)
c.2257G= (p.Asp753=)
c.2344G= (p.Asp782=)
c.2275G= (p.Asp759=)
c.1807G= (p.Asp603=)
Xg.41531147C>GCA412990444CASKc.2329G>C (p.Asp777His)
c.2326G>C (p.Asp776His)
c.2380G>C (p.Asp794His)
c.2278G>C (p.Asp760His)
c.2383G>C (p.Asp795His)
c.1000G>C (p.Asp334His)
c.2311G>C (p.Asp771His)
c.2242G>C (p.Asp748His)
n.1159G>C
c.152G>C
c.2362G>C (p.Asp788His)
c.2293G>C (p.Asp765His)
c.2365G>C (p.Asp789His)
n.2611G>C
c.2347G>C (p.Asp783His)
c.1702G>C (p.Asp568His)
c.2296G>C (p.Asp766His)
c.2314G>C (p.Asp772His)
c.745G>C (p.Asp249His)
c.1156G>C (p.Asp386His)
c.2257G>C (p.Asp753His)
c.2344G>C (p.Asp782His)
c.2275G>C (p.Asp759His)
c.1807G>C (p.Asp603His)
Xg.41531147C>TCA10390030CASKc.2329G>A (p.Asp777Asn)
c.2326G>A (p.Asp776Asn)
c.2380G>A (p.Asp794Asn)
c.2278G>A (p.Asp760Asn)
c.2383G>A (p.Asp795Asn)
c.1000G>A (p.Asp334Asn)
c.2311G>A (p.Asp771Asn)
c.2242G>A (p.Asp748Asn)
n.1159G>A
c.152G>A
c.2362G>A (p.Asp788Asn)
c.2293G>A (p.Asp765Asn)
c.2365G>A (p.Asp789Asn)
n.2611G>A
c.2347G>A (p.Asp783Asn)
c.1702G>A (p.Asp568Asn)
c.2296G>A (p.Asp766Asn)
c.2314G>A (p.Asp772Asn)
c.745G>A (p.Asp249Asn)
c.1156G>A (p.Asp386Asn)
c.2257G>A (p.Asp753Asn)
c.2344G>A (p.Asp782Asn)
c.2275G>A (p.Asp759Asn)
c.1807G>A (p.Asp603Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531148A>CCA412990446CASKc.2328T>G (p.His776Gln)
c.2325T>G (p.His775Gln)
c.2379T>G (p.His793Gln)
c.2277T>G (p.His759Gln)
c.2382T>G (p.His794Gln)
c.999T>G (p.His333Gln)
c.2310T>G (p.His770Gln)
c.2241T>G (p.His747Gln)
n.1158T>G
c.151T>G
c.2361T>G (p.His787Gln)
c.2292T>G (p.His764Gln)
c.2364T>G (p.His788Gln)
n.2610T>G
c.2346T>G (p.His782Gln)
c.1701T>G (p.His567Gln)
c.2295T>G (p.His765Gln)
c.2313T>G (p.His771Gln)
c.744T>G (p.His248Gln)
c.1155T>G (p.His385Gln)
c.2256T>G (p.His752Gln)
c.2343T>G (p.His781Gln)
c.2274T>G (p.His758Gln)
c.1806T>G (p.His602Gln)
Xg.41531148A>GCA516099430CASKc.2328T>C (p.His776=)
c.2325T>C (p.His775=)
c.2379T>C (p.His793=)
c.2277T>C (p.His759=)
c.2382T>C (p.His794=)
c.999T>C (p.His333=)
c.2310T>C (p.His770=)
c.2241T>C (p.His747=)
n.1158T>C
c.151T>C
c.2361T>C (p.His787=)
c.2292T>C (p.His764=)
c.2364T>C (p.His788=)
n.2610T>C
c.2346T>C (p.His782=)
c.1701T>C (p.His567=)
c.2295T>C (p.His765=)
c.2313T>C (p.His771=)
c.744T>C (p.His248=)
c.1155T>C (p.His385=)
c.2256T>C (p.His752=)
c.2343T>C (p.His781=)
c.2274T>C (p.His758=)
c.1806T>C (p.His602=)
Xg.41531148A>TCA412990447CASKc.2328T>A (p.His776Gln)
c.2325T>A (p.His775Gln)
c.2379T>A (p.His793Gln)
c.2277T>A (p.His759Gln)
c.2382T>A (p.His794Gln)
c.999T>A (p.His333Gln)
c.2310T>A (p.His770Gln)
c.2241T>A (p.His747Gln)
n.1158T>A
c.151T>A
c.2361T>A (p.His787Gln)
c.2292T>A (p.His764Gln)
c.2364T>A (p.His788Gln)
n.2610T>A
c.2346T>A (p.His782Gln)
c.1701T>A (p.His567Gln)
c.2295T>A (p.His765Gln)
c.2313T>A (p.His771Gln)
c.744T>A (p.His248Gln)
c.1155T>A (p.His385Gln)
c.2256T>A (p.His752Gln)
c.2343T>A (p.His781Gln)
c.2274T>A (p.His758Gln)
c.1806T>A (p.His602Gln)
 gnomAD v4
Xg.41531149T>ACA412990449CASKc.2327A>T (p.His776Leu)
c.2324A>T (p.His775Leu)
c.2378A>T (p.His793Leu)
c.2276A>T (p.His759Leu)
c.2381A>T (p.His794Leu)
c.998A>T (p.His333Leu)
c.2309A>T (p.His770Leu)
c.2240A>T (p.His747Leu)
n.1157A>T
c.150A>T
c.2360A>T (p.His787Leu)
c.2291A>T (p.His764Leu)
c.2363A>T (p.His788Leu)
n.2609A>T
c.2345A>T (p.His782Leu)
c.1700A>T (p.His567Leu)
c.2294A>T (p.His765Leu)
c.2312A>T (p.His771Leu)
c.743A>T (p.His248Leu)
c.1154A>T (p.His385Leu)
c.2255A>T (p.His752Leu)
c.2342A>T (p.His781Leu)
c.2273A>T (p.His758Leu)
c.1805A>T (p.His602Leu)
Xg.41531149T>CCA412990451CASKc.2327A>G (p.His776Arg)
c.2324A>G (p.His775Arg)
c.2378A>G (p.His793Arg)
c.2276A>G (p.His759Arg)
c.2381A>G (p.His794Arg)
c.998A>G (p.His333Arg)
c.2309A>G (p.His770Arg)
c.2240A>G (p.His747Arg)
n.1157A>G
c.150A>G
c.2360A>G (p.His787Arg)
c.2291A>G (p.His764Arg)
c.2363A>G (p.His788Arg)
n.2609A>G
c.2345A>G (p.His782Arg)
c.1700A>G (p.His567Arg)
c.2294A>G (p.His765Arg)
c.2312A>G (p.His771Arg)
c.743A>G (p.His248Arg)
c.1154A>G (p.His385Arg)
c.2255A>G (p.His752Arg)
c.2342A>G (p.His781Arg)
c.2273A>G (p.His758Arg)
c.1805A>G (p.His602Arg)
 COSMIC
Xg.41531149T>GCA412990453CASKc.2327A>C (p.His776Pro)
c.2324A>C (p.His775Pro)
c.2378A>C (p.His793Pro)
c.2276A>C (p.His759Pro)
c.2381A>C (p.His794Pro)
c.998A>C (p.His333Pro)
c.2309A>C (p.His770Pro)
c.2240A>C (p.His747Pro)
n.1157A>C
c.150A>C
c.2360A>C (p.His787Pro)
c.2291A>C (p.His764Pro)
c.2363A>C (p.His788Pro)
n.2609A>C
c.2345A>C (p.His782Pro)
c.1700A>C (p.His567Pro)
c.2294A>C (p.His765Pro)
c.2312A>C (p.His771Pro)
c.743A>C (p.His248Pro)
c.1154A>C (p.His385Pro)
c.2255A>C (p.His752Pro)
c.2342A>C (p.His781Pro)
c.2273A>C (p.His758Pro)
c.1805A>C (p.His602Pro)
 gnomAD v3 gnomAD v4
Xg.41531150G>ACA412990455CASKc.2326C>T (p.His776Tyr)
c.2323C>T (p.His775Tyr)
c.2377C>T (p.His793Tyr)
c.2275C>T (p.His759Tyr)
c.2380C>T (p.His794Tyr)
c.997C>T (p.His333Tyr)
c.2308C>T (p.His770Tyr)
c.2239C>T (p.His747Tyr)
n.1156C>T
c.149C>T
c.2359C>T (p.His787Tyr)
c.2290C>T (p.His764Tyr)
c.2362C>T (p.His788Tyr)
n.2608C>T
c.2344C>T (p.His782Tyr)
c.1699C>T (p.His567Tyr)
c.2293C>T (p.His765Tyr)
c.2311C>T (p.His771Tyr)
c.742C>T (p.His248Tyr)
c.1153C>T (p.His385Tyr)
c.2254C>T (p.His752Tyr)
c.2341C>T (p.His781Tyr)
c.2272C>T (p.His758Tyr)
c.1804C>T (p.His602Tyr)
 dbSNP gnomAD v4
Xg.41531150G>CCA412990456CASKc.2326C>G (p.His776Asp)
c.2323C>G (p.His775Asp)
c.2377C>G (p.His793Asp)
c.2275C>G (p.His759Asp)
c.2380C>G (p.His794Asp)
c.997C>G (p.His333Asp)
c.2308C>G (p.His770Asp)
c.2239C>G (p.His747Asp)
n.1156C>G
c.149C>G
c.2359C>G (p.His787Asp)
c.2290C>G (p.His764Asp)
c.2362C>G (p.His788Asp)
n.2608C>G
c.2344C>G (p.His782Asp)
c.1699C>G (p.His567Asp)
c.2293C>G (p.His765Asp)
c.2311C>G (p.His771Asp)
c.742C>G (p.His248Asp)
c.1153C>G (p.His385Asp)
c.2254C>G (p.His752Asp)
c.2341C>G (p.His781Asp)
c.2272C>G (p.His758Asp)
c.1804C>G (p.His602Asp)
Xg.41531150G=CA2425947709CASKc.2326C= (p.His776=)
c.2323C= (p.His775=)
c.2377C= (p.His793=)
c.2275C= (p.His759=)
c.2380C= (p.His794=)
c.997C= (p.His333=)
c.2308C= (p.His770=)
c.2239C= (p.His747=)
n.1156C=
c.149C=
c.2359C= (p.His787=)
c.2290C= (p.His764=)
c.2362C= (p.His788=)
n.2608C=
c.2344C= (p.His782=)
c.1699C= (p.His567=)
c.2293C= (p.His765=)
c.2311C= (p.His771=)
c.742C= (p.His248=)
c.1153C= (p.His385=)
c.2254C= (p.His752=)
c.2341C= (p.His781=)
c.2272C= (p.His758=)
c.1804C= (p.His602=)
Xg.41531150G>TCA412990458CASKc.2326C>A (p.His776Asn)
c.2323C>A (p.His775Asn)
c.2377C>A (p.His793Asn)
c.2275C>A (p.His759Asn)
c.2380C>A (p.His794Asn)
c.997C>A (p.His333Asn)
c.2308C>A (p.His770Asn)
c.2239C>A (p.His747Asn)
n.1156C>A
c.149C>A
c.2359C>A (p.His787Asn)
c.2290C>A (p.His764Asn)
c.2362C>A (p.His788Asn)
n.2608C>A
c.2344C>A (p.His782Asn)
c.1699C>A (p.His567Asn)
c.2293C>A (p.His765Asn)
c.2311C>A (p.His771Asn)
c.742C>A (p.His248Asn)
c.1153C>A (p.His385Asn)
c.2254C>A (p.His752Asn)
c.2341C>A (p.His781Asn)
c.2272C>A (p.His758Asn)
c.1804C>A (p.His602Asn)
Xg.41531152_41531153delCA2695232997CASKc.2325_2326del (p.His776Ter)
c.2322_2323del (p.His775Ter)
c.2376_2377del (p.His793Ter)
c.2274_2275del (p.His759Ter)
c.2379_2380del (p.His794Ter)
c.996_997del (p.His333Ter)
c.2307_2308del (p.His770Ter)
c.2238_2239del (p.His747Ter)
n.1155_1156del
c.148_149del
c.2358_2359del (p.His787Ter)
c.2289_2290del (p.His764Ter)
c.2361_2362del (p.His788Ter)
n.2607_2608del
c.2343_2344del (p.His782Ter)
c.1698_1699del (p.His567Ter)
c.2292_2293del (p.His765Ter)
c.2310_2311del (p.His771Ter)
c.741_742del (p.His248Ter)
c.1152_1153del (p.His385Ter)
c.2253_2254del (p.His752Ter)
c.2340_2341del (p.His781Ter)
c.2271_2272del (p.His758Ter)
c.1803_1804del (p.His602Ter)
Xg.41531151A>CCA516099444CASKc.2325T>G (p.Ser775=)
c.2322T>G (p.Ser774=)
c.2376T>G (p.Ser792=)
c.2274T>G (p.Ser758=)
c.2379T>G (p.Ser793=)
c.996T>G (p.Ser332=)
c.2307T>G (p.Ser769=)
c.2238T>G (p.Ser746=)
n.1155T>G
c.148T>G
c.2358T>G (p.Ser786=)
c.2289T>G (p.Ser763=)
c.2361T>G (p.Ser787=)
n.2607T>G
c.2343T>G (p.Ser781=)
c.1698T>G (p.Ser566=)
c.2292T>G (p.Ser764=)
c.2310T>G (p.Ser770=)
c.741T>G (p.Ser247=)
c.1152T>G (p.Ser384=)
c.2253T>G (p.Ser751=)
c.2340T>G (p.Ser780=)
c.2271T>G (p.Ser757=)
c.1803T>G (p.Ser601=)
Xg.41531151A>GCA516099446CASKc.2325T>C (p.Ser775=)
c.2322T>C (p.Ser774=)
c.2376T>C (p.Ser792=)
c.2274T>C (p.Ser758=)
c.2379T>C (p.Ser793=)
c.996T>C (p.Ser332=)
c.2307T>C (p.Ser769=)
c.2238T>C (p.Ser746=)
n.1155T>C
c.148T>C
c.2358T>C (p.Ser786=)
c.2289T>C (p.Ser763=)
c.2361T>C (p.Ser787=)
n.2607T>C
c.2343T>C (p.Ser781=)
c.1698T>C (p.Ser566=)
c.2292T>C (p.Ser764=)
c.2310T>C (p.Ser770=)
c.741T>C (p.Ser247=)
c.1152T>C (p.Ser384=)
c.2253T>C (p.Ser751=)
c.2340T>C (p.Ser780=)
c.2271T>C (p.Ser757=)
c.1803T>C (p.Ser601=)
Xg.41531151A>TCA516099448CASKc.2325T>A (p.Ser775=)
c.2322T>A (p.Ser774=)
c.2376T>A (p.Ser792=)
c.2274T>A (p.Ser758=)
c.2379T>A (p.Ser793=)
c.996T>A (p.Ser332=)
c.2307T>A (p.Ser769=)
c.2238T>A (p.Ser746=)
n.1155T>A
c.148T>A
c.2358T>A (p.Ser786=)
c.2289T>A (p.Ser763=)
c.2361T>A (p.Ser787=)
n.2607T>A
c.2343T>A (p.Ser781=)
c.1698T>A (p.Ser566=)
c.2292T>A (p.Ser764=)
c.2310T>A (p.Ser770=)
c.741T>A (p.Ser247=)
c.1152T>A (p.Ser384=)
c.2253T>A (p.Ser751=)
c.2340T>A (p.Ser780=)
c.2271T>A (p.Ser757=)
c.1803T>A (p.Ser601=)
Xg.41531152G>ACA412990463CASKc.2324C>T (p.Ser775Phe)
c.2321C>T (p.Ser774Phe)
c.2375C>T (p.Ser792Phe)
c.2273C>T (p.Ser758Phe)
c.2378C>T (p.Ser793Phe)
c.995C>T (p.Ser332Phe)
c.2306C>T (p.Ser769Phe)
c.2237C>T (p.Ser746Phe)
n.1154C>T
c.147C>T
c.2357C>T (p.Ser786Phe)
c.2288C>T (p.Ser763Phe)
c.2360C>T (p.Ser787Phe)
n.2606C>T
c.2342C>T (p.Ser781Phe)
c.1697C>T (p.Ser566Phe)
c.2291C>T (p.Ser764Phe)
c.2309C>T (p.Ser770Phe)
c.740C>T (p.Ser247Phe)
c.1151C>T (p.Ser384Phe)
c.2252C>T (p.Ser751Phe)
c.2339C>T (p.Ser780Phe)
c.2270C>T (p.Ser757Phe)
c.1802C>T (p.Ser601Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41531152G>CCA412990460CASKc.2324C>G (p.Ser775Cys)
c.2321C>G (p.Ser774Cys)
c.2375C>G (p.Ser792Cys)
c.2273C>G (p.Ser758Cys)
c.2378C>G (p.Ser793Cys)
c.995C>G (p.Ser332Cys)
c.2306C>G (p.Ser769Cys)
c.2237C>G (p.Ser746Cys)
n.1154C>G
c.147C>G
c.2357C>G (p.Ser786Cys)
c.2288C>G (p.Ser763Cys)
c.2360C>G (p.Ser787Cys)
n.2606C>G
c.2342C>G (p.Ser781Cys)
c.1697C>G (p.Ser566Cys)
c.2291C>G (p.Ser764Cys)
c.2309C>G (p.Ser770Cys)
c.740C>G (p.Ser247Cys)
c.1151C>G (p.Ser384Cys)
c.2252C>G (p.Ser751Cys)
c.2339C>G (p.Ser780Cys)
c.2270C>G (p.Ser757Cys)
c.1802C>G (p.Ser601Cys)
 ClinVar
Xg.41531152G=CA2425947710CASKc.2324C= (p.Ser775=)
c.2321C= (p.Ser774=)
c.2375C= (p.Ser792=)
c.2273C= (p.Ser758=)
c.2378C= (p.Ser793=)
c.995C= (p.Ser332=)
c.2306C= (p.Ser769=)
c.2237C= (p.Ser746=)
n.1154C=
c.147C=
c.2357C= (p.Ser786=)
c.2288C= (p.Ser763=)
c.2360C= (p.Ser787=)
n.2606C=
c.2342C= (p.Ser781=)
c.1697C= (p.Ser566=)
c.2291C= (p.Ser764=)
c.2309C= (p.Ser770=)
c.740C= (p.Ser247=)
c.1151C= (p.Ser384=)
c.2252C= (p.Ser751=)
c.2339C= (p.Ser780=)
c.2270C= (p.Ser757=)
c.1802C= (p.Ser601=)
Xg.41531152G>TCA412990461CASKc.2324C>A (p.Ser775Tyr)
c.2321C>A (p.Ser774Tyr)
c.2375C>A (p.Ser792Tyr)
c.2273C>A (p.Ser758Tyr)
c.2378C>A (p.Ser793Tyr)
c.995C>A (p.Ser332Tyr)
c.2306C>A (p.Ser769Tyr)
c.2237C>A (p.Ser746Tyr)
n.1154C>A
c.147C>A
c.2357C>A (p.Ser786Tyr)
c.2288C>A (p.Ser763Tyr)
c.2360C>A (p.Ser787Tyr)
n.2606C>A
c.2342C>A (p.Ser781Tyr)
c.1697C>A (p.Ser566Tyr)
c.2291C>A (p.Ser764Tyr)
c.2309C>A (p.Ser770Tyr)
c.740C>A (p.Ser247Tyr)
c.1151C>A (p.Ser384Tyr)
c.2252C>A (p.Ser751Tyr)
c.2339C>A (p.Ser780Tyr)
c.2270C>A (p.Ser757Tyr)
c.1802C>A (p.Ser601Tyr)
Xg.41531153A>CCA412990464CASKc.2323T>G (p.Ser775Ala)
c.2320T>G (p.Ser774Ala)
c.2374T>G (p.Ser792Ala)
c.2272T>G (p.Ser758Ala)
c.2377T>G (p.Ser793Ala)
c.994T>G (p.Ser332Ala)
c.2305T>G (p.Ser769Ala)
c.2236T>G (p.Ser746Ala)
n.1153T>G
c.146T>G
c.2356T>G (p.Ser786Ala)
c.2287T>G (p.Ser763Ala)
c.2359T>G (p.Ser787Ala)
n.2605T>G
c.2341T>G (p.Ser781Ala)
c.1696T>G (p.Ser566Ala)
c.2290T>G (p.Ser764Ala)
c.2308T>G (p.Ser770Ala)
c.739T>G (p.Ser247Ala)
c.1150T>G (p.Ser384Ala)
c.2251T>G (p.Ser751Ala)
c.2338T>G (p.Ser780Ala)
c.2269T>G (p.Ser757Ala)
c.1801T>G (p.Ser601Ala)
Xg.41531153A>GCA412990466CASKc.2323T>C (p.Ser775Pro)
c.2320T>C (p.Ser774Pro)
c.2374T>C (p.Ser792Pro)
c.2272T>C (p.Ser758Pro)
c.2377T>C (p.Ser793Pro)
c.994T>C (p.Ser332Pro)
c.2305T>C (p.Ser769Pro)
c.2236T>C (p.Ser746Pro)
n.1153T>C
c.146T>C
c.2356T>C (p.Ser786Pro)
c.2287T>C (p.Ser763Pro)
c.2359T>C (p.Ser787Pro)
n.2605T>C
c.2341T>C (p.Ser781Pro)
c.1696T>C (p.Ser566Pro)
c.2290T>C (p.Ser764Pro)
c.2308T>C (p.Ser770Pro)
c.739T>C (p.Ser247Pro)
c.1150T>C (p.Ser384Pro)
c.2251T>C (p.Ser751Pro)
c.2338T>C (p.Ser780Pro)
c.2269T>C (p.Ser757Pro)
c.1801T>C (p.Ser601Pro)
Xg.41531153A>TCA412990468CASKc.2323T>A (p.Ser775Thr)
c.2320T>A (p.Ser774Thr)
c.2374T>A (p.Ser792Thr)
c.2272T>A (p.Ser758Thr)
c.2377T>A (p.Ser793Thr)
c.994T>A (p.Ser332Thr)
c.2305T>A (p.Ser769Thr)
c.2236T>A (p.Ser746Thr)
n.1153T>A
c.146T>A
c.2356T>A (p.Ser786Thr)
c.2287T>A (p.Ser763Thr)
c.2359T>A (p.Ser787Thr)
n.2605T>A
c.2341T>A (p.Ser781Thr)
c.1696T>A (p.Ser566Thr)
c.2290T>A (p.Ser764Thr)
c.2308T>A (p.Ser770Thr)
c.739T>A (p.Ser247Thr)
c.1150T>A (p.Ser384Thr)
c.2251T>A (p.Ser751Thr)
c.2338T>A (p.Ser780Thr)
c.2269T>A (p.Ser757Thr)
c.1801T>A (p.Ser601Thr)
Xg.41531154T>ACA516099464CASKc.2322A>T (p.Val774=)
c.2319A>T (p.Val773=)
c.2373A>T (p.Val791=)
c.2271A>T (p.Val757=)
c.2376A>T (p.Val792=)
c.993A>T (p.Val331=)
c.2304A>T (p.Val768=)
c.2235A>T (p.Val745=)
n.1152A>T
c.145A>T
c.2355A>T (p.Val785=)
c.2286A>T (p.Val762=)
c.2358A>T (p.Val786=)
n.2604A>T
c.2340A>T (p.Val780=)
c.1695A>T (p.Val565=)
c.2289A>T (p.Val763=)
c.2307A>T (p.Val769=)
c.738A>T (p.Val246=)
c.1149A>T (p.Val383=)
c.2250A>T (p.Val750=)
c.2337A>T (p.Val779=)
c.2268A>T (p.Val756=)
c.1800A>T (p.Val600=)
Xg.41531154T>CCA516099462CASKc.2322A>G (p.Val774=)
c.2319A>G (p.Val773=)
c.2373A>G (p.Val791=)
c.2271A>G (p.Val757=)
c.2376A>G (p.Val792=)
c.993A>G (p.Val331=)
c.2304A>G (p.Val768=)
c.2235A>G (p.Val745=)
n.1152A>G
c.145A>G
c.2355A>G (p.Val785=)
c.2286A>G (p.Val762=)
c.2358A>G (p.Val786=)
n.2604A>G
c.2340A>G (p.Val780=)
c.1695A>G (p.Val565=)
c.2289A>G (p.Val763=)
c.2307A>G (p.Val769=)
c.738A>G (p.Val246=)
c.1149A>G (p.Val383=)
c.2250A>G (p.Val750=)
c.2337A>G (p.Val779=)
c.2268A>G (p.Val756=)
c.1800A>G (p.Val600=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531154T>GCA516099460CASKc.2322A>C (p.Val774=)
c.2319A>C (p.Val773=)
c.2373A>C (p.Val791=)
c.2271A>C (p.Val757=)
c.2376A>C (p.Val792=)
c.993A>C (p.Val331=)
c.2304A>C (p.Val768=)
c.2235A>C (p.Val745=)
n.1152A>C
c.145A>C
c.2355A>C (p.Val785=)
c.2286A>C (p.Val762=)
c.2358A>C (p.Val786=)
n.2604A>C
c.2340A>C (p.Val780=)
c.1695A>C (p.Val565=)
c.2289A>C (p.Val763=)
c.2307A>C (p.Val769=)
c.738A>C (p.Val246=)
c.1149A>C (p.Val383=)
c.2250A>C (p.Val750=)
c.2337A>C (p.Val779=)
c.2268A>C (p.Val756=)
c.1800A>C (p.Val600=)
Xg.41531154T=CA2425947711CASKc.2322A= (p.Val774=)
c.2319A= (p.Val773=)
c.2373A= (p.Val791=)
c.2271A= (p.Val757=)
c.2376A= (p.Val792=)
c.993A= (p.Val331=)
c.2304A= (p.Val768=)
c.2235A= (p.Val745=)
n.1152A=
c.145A=
c.2355A= (p.Val785=)
c.2286A= (p.Val762=)
c.2358A= (p.Val786=)
n.2604A=
c.2340A= (p.Val780=)
c.1695A= (p.Val565=)
c.2289A= (p.Val763=)
c.2307A= (p.Val769=)
c.738A= (p.Val246=)
c.1149A= (p.Val383=)
c.2250A= (p.Val750=)
c.2337A= (p.Val779=)
c.2268A= (p.Val756=)
c.1800A= (p.Val600=)
Xg.41531155A>CCA412990469CASKc.2321T>G (p.Val774Gly)
c.2318T>G (p.Val773Gly)
c.2372T>G (p.Val791Gly)
c.2270T>G (p.Val757Gly)
c.2375T>G (p.Val792Gly)
c.992T>G (p.Val331Gly)
c.2303T>G (p.Val768Gly)
c.2234T>G (p.Val745Gly)
n.1151T>G
c.144T>G
c.2354T>G (p.Val785Gly)
c.2285T>G (p.Val762Gly)
c.2357T>G (p.Val786Gly)
n.2603T>G
c.2339T>G (p.Val780Gly)
c.1694T>G (p.Val565Gly)
c.2288T>G (p.Val763Gly)
c.2306T>G (p.Val769Gly)
c.737T>G (p.Val246Gly)
c.1148T>G (p.Val383Gly)
c.2249T>G (p.Val750Gly)
c.2336T>G (p.Val779Gly)
c.2267T>G (p.Val756Gly)
c.1799T>G (p.Val600Gly)
Xg.41531155A>GCA412990470CASKc.2321T>C (p.Val774Ala)
c.2318T>C (p.Val773Ala)
c.2372T>C (p.Val791Ala)
c.2270T>C (p.Val757Ala)
c.2375T>C (p.Val792Ala)
c.992T>C (p.Val331Ala)
c.2303T>C (p.Val768Ala)
c.2234T>C (p.Val745Ala)
n.1151T>C
c.144T>C
c.2354T>C (p.Val785Ala)
c.2285T>C (p.Val762Ala)
c.2357T>C (p.Val786Ala)
n.2603T>C
c.2339T>C (p.Val780Ala)
c.1694T>C (p.Val565Ala)
c.2288T>C (p.Val763Ala)
c.2306T>C (p.Val769Ala)
c.737T>C (p.Val246Ala)
c.1148T>C (p.Val383Ala)
c.2249T>C (p.Val750Ala)
c.2336T>C (p.Val779Ala)
c.2267T>C (p.Val756Ala)
c.1799T>C (p.Val600Ala)
Xg.41531155A>TCA412990472CASKc.2321T>A (p.Val774Glu)
c.2318T>A (p.Val773Glu)
c.2372T>A (p.Val791Glu)
c.2270T>A (p.Val757Glu)
c.2375T>A (p.Val792Glu)
c.992T>A (p.Val331Glu)
c.2303T>A (p.Val768Glu)
c.2234T>A (p.Val745Glu)
n.1151T>A
c.144T>A
c.2354T>A (p.Val785Glu)
c.2285T>A (p.Val762Glu)
c.2357T>A (p.Val786Glu)
n.2603T>A
c.2339T>A (p.Val780Glu)
c.1694T>A (p.Val565Glu)
c.2288T>A (p.Val763Glu)
c.2306T>A (p.Val769Glu)
c.737T>A (p.Val246Glu)
c.1148T>A (p.Val383Glu)
c.2249T>A (p.Val750Glu)
c.2336T>A (p.Val779Glu)
c.2267T>A (p.Val756Glu)
c.1799T>A (p.Val600Glu)
Xg.41531156C>ACA412990474CASKc.2320G>T (p.Val774Leu)
c.2317G>T (p.Val773Leu)
c.2371G>T (p.Val791Leu)
c.2269G>T (p.Val757Leu)
c.2374G>T (p.Val792Leu)
c.991G>T (p.Val331Leu)
c.2302G>T (p.Val768Leu)
c.2233G>T (p.Val745Leu)
n.1150G>T
c.143G>T
c.2353G>T (p.Val785Leu)
c.2284G>T (p.Val762Leu)
c.2356G>T (p.Val786Leu)
n.2602G>T
c.2338G>T (p.Val780Leu)
c.1693G>T (p.Val565Leu)
c.2287G>T (p.Val763Leu)
c.2305G>T (p.Val769Leu)
c.736G>T (p.Val246Leu)
c.1147G>T (p.Val383Leu)
c.2248G>T (p.Val750Leu)
c.2335G>T (p.Val779Leu)
c.2266G>T (p.Val756Leu)
c.1798G>T (p.Val600Leu)
Xg.41531156C>GCA412990475CASKc.2320G>C (p.Val774Leu)
c.2317G>C (p.Val773Leu)
c.2371G>C (p.Val791Leu)
c.2269G>C (p.Val757Leu)
c.2374G>C (p.Val792Leu)
c.991G>C (p.Val331Leu)
c.2302G>C (p.Val768Leu)
c.2233G>C (p.Val745Leu)
n.1150G>C
c.143G>C
c.2353G>C (p.Val785Leu)
c.2284G>C (p.Val762Leu)
c.2356G>C (p.Val786Leu)
n.2602G>C
c.2338G>C (p.Val780Leu)
c.1693G>C (p.Val565Leu)
c.2287G>C (p.Val763Leu)
c.2305G>C (p.Val769Leu)
c.736G>C (p.Val246Leu)
c.1147G>C (p.Val383Leu)
c.2248G>C (p.Val750Leu)
c.2335G>C (p.Val779Leu)
c.2266G>C (p.Val756Leu)
c.1798G>C (p.Val600Leu)
Xg.41531156C>TCA412990477CASKc.2320G>A (p.Val774Ile)
c.2317G>A (p.Val773Ile)
c.2371G>A (p.Val791Ile)
c.2269G>A (p.Val757Ile)
c.2374G>A (p.Val792Ile)
c.991G>A (p.Val331Ile)
c.2302G>A (p.Val768Ile)
c.2233G>A (p.Val745Ile)
n.1150G>A
c.143G>A
c.2353G>A (p.Val785Ile)
c.2284G>A (p.Val762Ile)
c.2356G>A (p.Val786Ile)
n.2602G>A
c.2338G>A (p.Val780Ile)
c.1693G>A (p.Val565Ile)
c.2287G>A (p.Val763Ile)
c.2305G>A (p.Val769Ile)
c.736G>A (p.Val246Ile)
c.1147G>A (p.Val383Ile)
c.2248G>A (p.Val750Ile)
c.2335G>A (p.Val779Ile)
c.2266G>A (p.Val756Ile)
c.1798G>A (p.Val600Ile)
Xg.41531157A>CCA412990479CASKc.2319T>G (p.Phe773Leu)
c.2316T>G (p.Phe772Leu)
c.2370T>G (p.Phe790Leu)
c.2268T>G (p.Phe756Leu)
c.2373T>G (p.Phe791Leu)
c.990T>G (p.Phe330Leu)
c.2301T>G (p.Phe767Leu)
c.2232T>G (p.Phe744Leu)
n.1149T>G
c.142T>G
c.2352T>G (p.Phe784Leu)
c.2283T>G (p.Phe761Leu)
c.2355T>G (p.Phe785Leu)
n.2601T>G
c.2337T>G (p.Phe779Leu)
c.1692T>G (p.Phe564Leu)
c.2286T>G (p.Phe762Leu)
c.2304T>G (p.Phe768Leu)
c.735T>G (p.Phe245Leu)
c.1146T>G (p.Phe382Leu)
c.2247T>G (p.Phe749Leu)
c.2334T>G (p.Phe778Leu)
c.2265T>G (p.Phe755Leu)
c.1797T>G (p.Phe599Leu)
Xg.41531157A>GCA516099478CASKc.2319T>C (p.Phe773=)
c.2316T>C (p.Phe772=)
c.2370T>C (p.Phe790=)
c.2268T>C (p.Phe756=)
c.2373T>C (p.Phe791=)
c.990T>C (p.Phe330=)
c.2301T>C (p.Phe767=)
c.2232T>C (p.Phe744=)
n.1149T>C
c.142T>C
c.2352T>C (p.Phe784=)
c.2283T>C (p.Phe761=)
c.2355T>C (p.Phe785=)
n.2601T>C
c.2337T>C (p.Phe779=)
c.1692T>C (p.Phe564=)
c.2286T>C (p.Phe762=)
c.2304T>C (p.Phe768=)
c.735T>C (p.Phe245=)
c.1146T>C (p.Phe382=)
c.2247T>C (p.Phe749=)
c.2334T>C (p.Phe778=)
c.2265T>C (p.Phe755=)
c.1797T>C (p.Phe599=)
Xg.41531157A>TCA412990481CASKc.2319T>A (p.Phe773Leu)
c.2316T>A (p.Phe772Leu)
c.2370T>A (p.Phe790Leu)
c.2268T>A (p.Phe756Leu)
c.2373T>A (p.Phe791Leu)
c.990T>A (p.Phe330Leu)
c.2301T>A (p.Phe767Leu)
c.2232T>A (p.Phe744Leu)
n.1149T>A
c.142T>A
c.2352T>A (p.Phe784Leu)
c.2283T>A (p.Phe761Leu)
c.2355T>A (p.Phe785Leu)
n.2601T>A
c.2337T>A (p.Phe779Leu)
c.1692T>A (p.Phe564Leu)
c.2286T>A (p.Phe762Leu)
c.2304T>A (p.Phe768Leu)
c.735T>A (p.Phe245Leu)
c.1146T>A (p.Phe382Leu)
c.2247T>A (p.Phe749Leu)
c.2334T>A (p.Phe778Leu)
c.2265T>A (p.Phe755Leu)
c.1797T>A (p.Phe599Leu)
Xg.41531158A>CCA412990486CASKc.2318T>G (p.Phe773Cys)
c.2315T>G (p.Phe772Cys)
c.2369T>G (p.Phe790Cys)
c.2267T>G (p.Phe756Cys)
c.2372T>G (p.Phe791Cys)
c.989T>G (p.Phe330Cys)
c.2300T>G (p.Phe767Cys)
c.2231T>G (p.Phe744Cys)
n.1148T>G
c.141T>G
c.2351T>G (p.Phe784Cys)
c.2282T>G (p.Phe761Cys)
c.2354T>G (p.Phe785Cys)
n.2600T>G
c.2336T>G (p.Phe779Cys)
c.1691T>G (p.Phe564Cys)
c.2285T>G (p.Phe762Cys)
c.2303T>G (p.Phe768Cys)
c.734T>G (p.Phe245Cys)
c.1145T>G (p.Phe382Cys)
c.2246T>G (p.Phe749Cys)
c.2333T>G (p.Phe778Cys)
c.2264T>G (p.Phe755Cys)
c.1796T>G (p.Phe599Cys)
Xg.41531158A>GCA412990485CASKc.2318T>C (p.Phe773Ser)
c.2315T>C (p.Phe772Ser)
c.2369T>C (p.Phe790Ser)
c.2267T>C (p.Phe756Ser)
c.2372T>C (p.Phe791Ser)
c.989T>C (p.Phe330Ser)
c.2300T>C (p.Phe767Ser)
c.2231T>C (p.Phe744Ser)
n.1148T>C
c.141T>C
c.2351T>C (p.Phe784Ser)
c.2282T>C (p.Phe761Ser)
c.2354T>C (p.Phe785Ser)
n.2600T>C
c.2336T>C (p.Phe779Ser)
c.1691T>C (p.Phe564Ser)
c.2285T>C (p.Phe762Ser)
c.2303T>C (p.Phe768Ser)
c.734T>C (p.Phe245Ser)
c.1145T>C (p.Phe382Ser)
c.2246T>C (p.Phe749Ser)
c.2333T>C (p.Phe778Ser)
c.2264T>C (p.Phe755Ser)
c.1796T>C (p.Phe599Ser)
Xg.41531158A>TCA412990483CASKc.2318T>A (p.Phe773Tyr)
c.2315T>A (p.Phe772Tyr)
c.2369T>A (p.Phe790Tyr)
c.2267T>A (p.Phe756Tyr)
c.2372T>A (p.Phe791Tyr)
c.989T>A (p.Phe330Tyr)
c.2300T>A (p.Phe767Tyr)
c.2231T>A (p.Phe744Tyr)
n.1148T>A
c.141T>A
c.2351T>A (p.Phe784Tyr)
c.2282T>A (p.Phe761Tyr)
c.2354T>A (p.Phe785Tyr)
n.2600T>A
c.2336T>A (p.Phe779Tyr)
c.1691T>A (p.Phe564Tyr)
c.2285T>A (p.Phe762Tyr)
c.2303T>A (p.Phe768Tyr)
c.734T>A (p.Phe245Tyr)
c.1145T>A (p.Phe382Tyr)
c.2246T>A (p.Phe749Tyr)
c.2333T>A (p.Phe778Tyr)
c.2264T>A (p.Phe755Tyr)
c.1796T>A (p.Phe599Tyr)
Xg.41531159A>CCA412990492CASKc.2317T>G (p.Phe773Val)
c.2314T>G (p.Phe772Val)
c.2368T>G (p.Phe790Val)
c.2266T>G (p.Phe756Val)
c.2371T>G (p.Phe791Val)
c.988T>G (p.Phe330Val)
c.2299T>G (p.Phe767Val)
c.2230T>G (p.Phe744Val)
n.1147T>G
c.140T>G
c.2350T>G (p.Phe784Val)
c.2281T>G (p.Phe761Val)
c.2353T>G (p.Phe785Val)
n.2599T>G
c.2335T>G (p.Phe779Val)
c.1690T>G (p.Phe564Val)
c.2284T>G (p.Phe762Val)
c.2302T>G (p.Phe768Val)
c.733T>G (p.Phe245Val)
c.1144T>G (p.Phe382Val)
c.2245T>G (p.Phe749Val)
c.2332T>G (p.Phe778Val)
c.2263T>G (p.Phe755Val)
c.1795T>G (p.Phe599Val)
Xg.41531159A>GCA412990489CASKc.2317T>C (p.Phe773Leu)
c.2314T>C (p.Phe772Leu)
c.2368T>C (p.Phe790Leu)
c.2266T>C (p.Phe756Leu)
c.2371T>C (p.Phe791Leu)
c.988T>C (p.Phe330Leu)
c.2299T>C (p.Phe767Leu)
c.2230T>C (p.Phe744Leu)
n.1147T>C
c.140T>C
c.2350T>C (p.Phe784Leu)
c.2281T>C (p.Phe761Leu)
c.2353T>C (p.Phe785Leu)
n.2599T>C
c.2335T>C (p.Phe779Leu)
c.1690T>C (p.Phe564Leu)
c.2284T>C (p.Phe762Leu)
c.2302T>C (p.Phe768Leu)
c.733T>C (p.Phe245Leu)
c.1144T>C (p.Phe382Leu)
c.2245T>C (p.Phe749Leu)
c.2332T>C (p.Phe778Leu)
c.2263T>C (p.Phe755Leu)
c.1795T>C (p.Phe599Leu)
Xg.41531159A>TCA412990491CASKc.2317T>A (p.Phe773Ile)
c.2314T>A (p.Phe772Ile)
c.2368T>A (p.Phe790Ile)
c.2266T>A (p.Phe756Ile)
c.2371T>A (p.Phe791Ile)
c.988T>A (p.Phe330Ile)
c.2299T>A (p.Phe767Ile)
c.2230T>A (p.Phe744Ile)
n.1147T>A
c.140T>A
c.2350T>A (p.Phe784Ile)
c.2281T>A (p.Phe761Ile)
c.2353T>A (p.Phe785Ile)
n.2599T>A
c.2335T>A (p.Phe779Ile)
c.1690T>A (p.Phe564Ile)
c.2284T>A (p.Phe762Ile)
c.2302T>A (p.Phe768Ile)
c.733T>A (p.Phe245Ile)
c.1144T>A (p.Phe382Ile)
c.2245T>A (p.Phe749Ile)
c.2332T>A (p.Phe778Ile)
c.2263T>A (p.Phe755Ile)
c.1795T>A (p.Phe599Ile)
Xg.41531160G>ACA516099490CASKc.2316C>T (p.Tyr772=)
c.2313C>T (p.Tyr771=)
c.2367C>T (p.Tyr789=)
c.2265C>T (p.Tyr755=)
c.2370C>T (p.Tyr790=)
c.987C>T (p.Tyr329=)
c.2298C>T (p.Tyr766=)
c.2229C>T (p.Tyr743=)
n.1146C>T
c.139C>T
c.2349C>T (p.Tyr783=)
c.2280C>T (p.Tyr760=)
c.2352C>T (p.Tyr784=)
n.2598C>T
c.2334C>T (p.Tyr778=)
c.1689C>T (p.Tyr563=)
c.2283C>T (p.Tyr761=)
c.2301C>T (p.Tyr767=)
c.732C>T (p.Tyr244=)
c.1143C>T (p.Tyr381=)
c.2244C>T (p.Tyr748=)
c.2331C>T (p.Tyr777=)
c.2262C>T (p.Tyr754=)
c.1794C>T (p.Tyr598=)
Xg.41531160G>CCA412990494CASKc.2316C>G (p.Tyr772Ter)
c.2313C>G (p.Tyr771Ter)
c.2367C>G (p.Tyr789Ter)
c.2265C>G (p.Tyr755Ter)
c.2370C>G (p.Tyr790Ter)
c.987C>G (p.Tyr329Ter)
c.2298C>G (p.Tyr766Ter)
c.2229C>G (p.Tyr743Ter)
n.1146C>G
c.139C>G
c.2349C>G (p.Tyr783Ter)
c.2280C>G (p.Tyr760Ter)
c.2352C>G (p.Tyr784Ter)
n.2598C>G
c.2334C>G (p.Tyr778Ter)
c.1689C>G (p.Tyr563Ter)
c.2283C>G (p.Tyr761Ter)
c.2301C>G (p.Tyr767Ter)
c.732C>G (p.Tyr244Ter)
c.1143C>G (p.Tyr381Ter)
c.2244C>G (p.Tyr748Ter)
c.2331C>G (p.Tyr777Ter)
c.2262C>G (p.Tyr754Ter)
c.1794C>G (p.Tyr598Ter)
Xg.41531160G>TCA412990496CASKc.2316C>A (p.Tyr772Ter)
c.2313C>A (p.Tyr771Ter)
c.2367C>A (p.Tyr789Ter)
c.2265C>A (p.Tyr755Ter)
c.2370C>A (p.Tyr790Ter)
c.987C>A (p.Tyr329Ter)
c.2298C>A (p.Tyr766Ter)
c.2229C>A (p.Tyr743Ter)
n.1146C>A
c.139C>A
c.2349C>A (p.Tyr783Ter)
c.2280C>A (p.Tyr760Ter)
c.2352C>A (p.Tyr784Ter)
n.2598C>A
c.2334C>A (p.Tyr778Ter)
c.1689C>A (p.Tyr563Ter)
c.2283C>A (p.Tyr761Ter)
c.2301C>A (p.Tyr767Ter)
c.732C>A (p.Tyr244Ter)
c.1143C>A (p.Tyr381Ter)
c.2244C>A (p.Tyr748Ter)
c.2331C>A (p.Tyr777Ter)
c.2262C>A (p.Tyr754Ter)
c.1794C>A (p.Tyr598Ter)
Xg.41531161T>ACA412990498CASKc.2315A>T (p.Tyr772Phe)
c.2312A>T (p.Tyr771Phe)
c.2366A>T (p.Tyr789Phe)
c.2264A>T (p.Tyr755Phe)
c.2369A>T (p.Tyr790Phe)
c.986A>T (p.Tyr329Phe)
c.2297A>T (p.Tyr766Phe)
c.2228A>T (p.Tyr743Phe)
n.1145A>T
c.138A>T
c.2348A>T (p.Tyr783Phe)
c.2279A>T (p.Tyr760Phe)
c.2351A>T (p.Tyr784Phe)
n.2597A>T
c.2333A>T (p.Tyr778Phe)
c.1688A>T (p.Tyr563Phe)
c.2282A>T (p.Tyr761Phe)
c.2300A>T (p.Tyr767Phe)
c.731A>T (p.Tyr244Phe)
c.1142A>T (p.Tyr381Phe)
c.2243A>T (p.Tyr748Phe)
c.2330A>T (p.Tyr777Phe)
c.2261A>T (p.Tyr754Phe)
c.1793A>T (p.Tyr598Phe)
Xg.41531161T>CCA412990499CASKc.2315A>G (p.Tyr772Cys)
c.2312A>G (p.Tyr771Cys)
c.2366A>G (p.Tyr789Cys)
c.2264A>G (p.Tyr755Cys)
c.2369A>G (p.Tyr790Cys)
c.986A>G (p.Tyr329Cys)
c.2297A>G (p.Tyr766Cys)
c.2228A>G (p.Tyr743Cys)
n.1145A>G
c.138A>G
c.2348A>G (p.Tyr783Cys)
c.2279A>G (p.Tyr760Cys)
c.2351A>G (p.Tyr784Cys)
n.2597A>G
c.2333A>G (p.Tyr778Cys)
c.1688A>G (p.Tyr563Cys)
c.2282A>G (p.Tyr761Cys)
c.2300A>G (p.Tyr767Cys)
c.731A>G (p.Tyr244Cys)
c.1142A>G (p.Tyr381Cys)
c.2243A>G (p.Tyr748Cys)
c.2330A>G (p.Tyr777Cys)
c.2261A>G (p.Tyr754Cys)
c.1793A>G (p.Tyr598Cys)
Xg.41531161T>GCA412990502CASKc.2315A>C (p.Tyr772Ser)
c.2312A>C (p.Tyr771Ser)
c.2366A>C (p.Tyr789Ser)
c.2264A>C (p.Tyr755Ser)
c.2369A>C (p.Tyr790Ser)
c.986A>C (p.Tyr329Ser)
c.2297A>C (p.Tyr766Ser)
c.2228A>C (p.Tyr743Ser)
n.1145A>C
c.138A>C
c.2348A>C (p.Tyr783Ser)
c.2279A>C (p.Tyr760Ser)
c.2351A>C (p.Tyr784Ser)
n.2597A>C
c.2333A>C (p.Tyr778Ser)
c.1688A>C (p.Tyr563Ser)
c.2282A>C (p.Tyr761Ser)
c.2300A>C (p.Tyr767Ser)
c.731A>C (p.Tyr244Ser)
c.1142A>C (p.Tyr381Ser)
c.2243A>C (p.Tyr748Ser)
c.2330A>C (p.Tyr777Ser)
c.2261A>C (p.Tyr754Ser)
c.1793A>C (p.Tyr598Ser)
Xg.41531162A>CCA412990504CASKc.2314T>G (p.Tyr772Asp)
c.2311T>G (p.Tyr771Asp)
c.2365T>G (p.Tyr789Asp)
c.2263T>G (p.Tyr755Asp)
c.2368T>G (p.Tyr790Asp)
c.985T>G (p.Tyr329Asp)
c.2296T>G (p.Tyr766Asp)
c.2227T>G (p.Tyr743Asp)
n.1144T>G
c.137T>G
c.2347T>G (p.Tyr783Asp)
c.2278T>G (p.Tyr760Asp)
c.2350T>G (p.Tyr784Asp)
n.2596T>G
c.2332T>G (p.Tyr778Asp)
c.1687T>G (p.Tyr563Asp)
c.2281T>G (p.Tyr761Asp)
c.2299T>G (p.Tyr767Asp)
c.730T>G (p.Tyr244Asp)
c.1141T>G (p.Tyr381Asp)
c.2242T>G (p.Tyr748Asp)
c.2329T>G (p.Tyr777Asp)
c.2260T>G (p.Tyr754Asp)
c.1792T>G (p.Tyr598Asp)
Xg.41531162A>GCA412990506CASKc.2314T>C (p.Tyr772His)
c.2311T>C (p.Tyr771His)
c.2365T>C (p.Tyr789His)
c.2263T>C (p.Tyr755His)
c.2368T>C (p.Tyr790His)
c.985T>C (p.Tyr329His)
c.2296T>C (p.Tyr766His)
c.2227T>C (p.Tyr743His)
n.1144T>C
c.137T>C
c.2347T>C (p.Tyr783His)
c.2278T>C (p.Tyr760His)
c.2350T>C (p.Tyr784His)
n.2596T>C
c.2332T>C (p.Tyr778His)
c.1687T>C (p.Tyr563His)
c.2281T>C (p.Tyr761His)
c.2299T>C (p.Tyr767His)
c.730T>C (p.Tyr244His)
c.1141T>C (p.Tyr381His)
c.2242T>C (p.Tyr748His)
c.2329T>C (p.Tyr777His)
c.2260T>C (p.Tyr754His)
c.1792T>C (p.Tyr598His)
Xg.41531162A>TCA412990508CASKc.2314T>A (p.Tyr772Asn)
c.2311T>A (p.Tyr771Asn)
c.2365T>A (p.Tyr789Asn)
c.2263T>A (p.Tyr755Asn)
c.2368T>A (p.Tyr790Asn)
c.985T>A (p.Tyr329Asn)
c.2296T>A (p.Tyr766Asn)
c.2227T>A (p.Tyr743Asn)
n.1144T>A
c.137T>A
c.2347T>A (p.Tyr783Asn)
c.2278T>A (p.Tyr760Asn)
c.2350T>A (p.Tyr784Asn)
n.2596T>A
c.2332T>A (p.Tyr778Asn)
c.1687T>A (p.Tyr563Asn)
c.2281T>A (p.Tyr761Asn)
c.2299T>A (p.Tyr767Asn)
c.730T>A (p.Tyr244Asn)
c.1141T>A (p.Tyr381Asn)
c.2242T>A (p.Tyr748Asn)
c.2329T>A (p.Tyr777Asn)
c.2260T>A (p.Tyr754Asn)
c.1792T>A (p.Tyr598Asn)
Xg.41531163A>CCA412990510CASKc.2313T>G (p.Tyr771Ter)
c.2310T>G (p.Tyr770Ter)
c.2364T>G (p.Tyr788Ter)
c.2262T>G (p.Tyr754Ter)
c.2367T>G (p.Tyr789Ter)
c.984T>G (p.Tyr328Ter)
c.2295T>G (p.Tyr765Ter)
c.2226T>G (p.Tyr742Ter)
n.1143T>G
c.136T>G
c.2346T>G (p.Tyr782Ter)
c.2277T>G (p.Tyr759Ter)
c.2349T>G (p.Tyr783Ter)
n.2595T>G
c.2331T>G (p.Tyr777Ter)
c.1686T>G (p.Tyr562Ter)
c.2280T>G (p.Tyr760Ter)
c.2298T>G (p.Tyr766Ter)
c.729T>G (p.Tyr243Ter)
c.1140T>G (p.Tyr380Ter)
c.2241T>G (p.Tyr747Ter)
c.2328T>G (p.Tyr776Ter)
c.2259T>G (p.Tyr753Ter)
c.1791T>G (p.Tyr597Ter)
Xg.41531163A>GCA516099508CASKc.2313T>C (p.Tyr771=)
c.2310T>C (p.Tyr770=)
c.2364T>C (p.Tyr788=)
c.2262T>C (p.Tyr754=)
c.2367T>C (p.Tyr789=)
c.984T>C (p.Tyr328=)
c.2295T>C (p.Tyr765=)
c.2226T>C (p.Tyr742=)
n.1143T>C
c.136T>C
c.2346T>C (p.Tyr782=)
c.2277T>C (p.Tyr759=)
c.2349T>C (p.Tyr783=)
n.2595T>C
c.2331T>C (p.Tyr777=)
c.1686T>C (p.Tyr562=)
c.2280T>C (p.Tyr760=)
c.2298T>C (p.Tyr766=)
c.729T>C (p.Tyr243=)
c.1140T>C (p.Tyr380=)
c.2241T>C (p.Tyr747=)
c.2328T>C (p.Tyr776=)
c.2259T>C (p.Tyr753=)
c.1791T>C (p.Tyr597=)
Xg.41531163A>TCA412990512CASKc.2313T>A (p.Tyr771Ter)
c.2310T>A (p.Tyr770Ter)
c.2364T>A (p.Tyr788Ter)
c.2262T>A (p.Tyr754Ter)
c.2367T>A (p.Tyr789Ter)
c.984T>A (p.Tyr328Ter)
c.2295T>A (p.Tyr765Ter)
c.2226T>A (p.Tyr742Ter)
n.1143T>A
c.136T>A
c.2346T>A (p.Tyr782Ter)
c.2277T>A (p.Tyr759Ter)
c.2349T>A (p.Tyr783Ter)
n.2595T>A
c.2331T>A (p.Tyr777Ter)
c.1686T>A (p.Tyr562Ter)
c.2280T>A (p.Tyr760Ter)
c.2298T>A (p.Tyr766Ter)
c.729T>A (p.Tyr243Ter)
c.1140T>A (p.Tyr380Ter)
c.2241T>A (p.Tyr747Ter)
c.2328T>A (p.Tyr776Ter)
c.2259T>A (p.Tyr753Ter)
c.1791T>A (p.Tyr597Ter)
Xg.41531164T>ACA412990518CASKc.2312A>T (p.Tyr771Phe)
c.2309A>T (p.Tyr770Phe)
c.2363A>T (p.Tyr788Phe)
c.2261A>T (p.Tyr754Phe)
c.2366A>T (p.Tyr789Phe)
c.983A>T (p.Tyr328Phe)
c.2294A>T (p.Tyr765Phe)
c.2225A>T (p.Tyr742Phe)
n.1142A>T
c.135A>T
c.2345A>T (p.Tyr782Phe)
c.2276A>T (p.Tyr759Phe)
c.2348A>T (p.Tyr783Phe)
n.2594A>T
c.2330A>T (p.Tyr777Phe)
c.1685A>T (p.Tyr562Phe)
c.2279A>T (p.Tyr760Phe)
c.2297A>T (p.Tyr766Phe)
c.728A>T (p.Tyr243Phe)
c.1139A>T (p.Tyr380Phe)
c.2240A>T (p.Tyr747Phe)
c.2327A>T (p.Tyr776Phe)
c.2258A>T (p.Tyr753Phe)
c.1790A>T (p.Tyr597Phe)
Xg.41531164T>CCA412990516CASKc.2312A>G (p.Tyr771Cys)
c.2309A>G (p.Tyr770Cys)
c.2363A>G (p.Tyr788Cys)
c.2261A>G (p.Tyr754Cys)
c.2366A>G (p.Tyr789Cys)
c.983A>G (p.Tyr328Cys)
c.2294A>G (p.Tyr765Cys)
c.2225A>G (p.Tyr742Cys)
n.1142A>G
c.135A>G
c.2345A>G (p.Tyr782Cys)
c.2276A>G (p.Tyr759Cys)
c.2348A>G (p.Tyr783Cys)
n.2594A>G
c.2330A>G (p.Tyr777Cys)
c.1685A>G (p.Tyr562Cys)
c.2279A>G (p.Tyr760Cys)
c.2297A>G (p.Tyr766Cys)
c.728A>G (p.Tyr243Cys)
c.1139A>G (p.Tyr380Cys)
c.2240A>G (p.Tyr747Cys)
c.2327A>G (p.Tyr776Cys)
c.2258A>G (p.Tyr753Cys)
c.1790A>G (p.Tyr597Cys)
Xg.41531164T>GCA412990514CASKc.2312A>C (p.Tyr771Ser)
c.2309A>C (p.Tyr770Ser)
c.2363A>C (p.Tyr788Ser)
c.2261A>C (p.Tyr754Ser)
c.2366A>C (p.Tyr789Ser)
c.983A>C (p.Tyr328Ser)
c.2294A>C (p.Tyr765Ser)
c.2225A>C (p.Tyr742Ser)
n.1142A>C
c.135A>C
c.2345A>C (p.Tyr782Ser)
c.2276A>C (p.Tyr759Ser)
c.2348A>C (p.Tyr783Ser)
n.2594A>C
c.2330A>C (p.Tyr777Ser)
c.1685A>C (p.Tyr562Ser)
c.2279A>C (p.Tyr760Ser)
c.2297A>C (p.Tyr766Ser)
c.728A>C (p.Tyr243Ser)
c.1139A>C (p.Tyr380Ser)
c.2240A>C (p.Tyr747Ser)
c.2327A>C (p.Tyr776Ser)
c.2258A>C (p.Tyr753Ser)
c.1790A>C (p.Tyr597Ser)
Xg.41531165A>CCA412990520CASKc.2311T>G (p.Tyr771Asp)
c.2308T>G (p.Tyr770Asp)
c.2362T>G (p.Tyr788Asp)
c.2260T>G (p.Tyr754Asp)
c.2365T>G (p.Tyr789Asp)
c.982T>G (p.Tyr328Asp)
c.2293T>G (p.Tyr765Asp)
c.2224T>G (p.Tyr742Asp)
n.1141T>G
c.134T>G
c.2344T>G (p.Tyr782Asp)
c.2275T>G (p.Tyr759Asp)
c.2347T>G (p.Tyr783Asp)
n.2593T>G
c.2329T>G (p.Tyr777Asp)
c.1684T>G (p.Tyr562Asp)
c.2278T>G (p.Tyr760Asp)
c.2296T>G (p.Tyr766Asp)
c.727T>G (p.Tyr243Asp)
c.1138T>G (p.Tyr380Asp)
c.2239T>G (p.Tyr747Asp)
c.2326T>G (p.Tyr776Asp)
c.2257T>G (p.Tyr753Asp)
c.1789T>G (p.Tyr597Asp)
Xg.41531165A>GCA412990522CASKc.2311T>C (p.Tyr771His)
c.2308T>C (p.Tyr770His)
c.2362T>C (p.Tyr788His)
c.2260T>C (p.Tyr754His)
c.2365T>C (p.Tyr789His)
c.982T>C (p.Tyr328His)
c.2293T>C (p.Tyr765His)
c.2224T>C (p.Tyr742His)
n.1141T>C
c.134T>C
c.2344T>C (p.Tyr782His)
c.2275T>C (p.Tyr759His)
c.2347T>C (p.Tyr783His)
n.2593T>C
c.2329T>C (p.Tyr777His)
c.1684T>C (p.Tyr562His)
c.2278T>C (p.Tyr760His)
c.2296T>C (p.Tyr766His)
c.727T>C (p.Tyr243His)
c.1138T>C (p.Tyr380His)
c.2239T>C (p.Tyr747His)
c.2326T>C (p.Tyr776His)
c.2257T>C (p.Tyr753His)
c.1789T>C (p.Tyr597His)
Xg.41531165A>TCA412990524CASKc.2311T>A (p.Tyr771Asn)
c.2308T>A (p.Tyr770Asn)
c.2362T>A (p.Tyr788Asn)
c.2260T>A (p.Tyr754Asn)
c.2365T>A (p.Tyr789Asn)
c.982T>A (p.Tyr328Asn)
c.2293T>A (p.Tyr765Asn)
c.2224T>A (p.Tyr742Asn)
n.1141T>A
c.134T>A
c.2344T>A (p.Tyr782Asn)
c.2275T>A (p.Tyr759Asn)
c.2347T>A (p.Tyr783Asn)
n.2593T>A
c.2329T>A (p.Tyr777Asn)
c.1684T>A (p.Tyr562Asn)
c.2278T>A (p.Tyr760Asn)
c.2296T>A (p.Tyr766Asn)
c.727T>A (p.Tyr243Asn)
c.1138T>A (p.Tyr380Asn)
c.2239T>A (p.Tyr747Asn)
c.2326T>A (p.Tyr776Asn)
c.2257T>A (p.Tyr753Asn)
c.1789T>A (p.Tyr597Asn)
Xg.41531166A>CCA412990526CASKc.2310T>G (p.Asn770Lys)
c.2307T>G (p.Asn769Lys)
c.2361T>G (p.Asn787Lys)
c.2259T>G (p.Asn753Lys)
c.2364T>G (p.Asn788Lys)
c.981T>G (p.Asn327Lys)
c.2292T>G (p.Asn764Lys)
c.2223T>G (p.Asn741Lys)
n.1140T>G
c.133T>G
c.2343T>G (p.Asn781Lys)
c.2274T>G (p.Asn758Lys)
c.2346T>G (p.Asn782Lys)
n.2592T>G
c.2328T>G (p.Asn776Lys)
c.1683T>G (p.Asn561Lys)
c.2277T>G (p.Asn759Lys)
c.2295T>G (p.Asn765Lys)
c.726T>G (p.Asn242Lys)
c.1137T>G (p.Asn379Lys)
c.2238T>G (p.Asn746Lys)
c.2325T>G (p.Asn775Lys)
c.2256T>G (p.Asn752Lys)
c.1788T>G (p.Asn596Lys)
Xg.41531166A>GCA516099521CASKc.2310T>C (p.Asn770=)
c.2307T>C (p.Asn769=)
c.2361T>C (p.Asn787=)
c.2259T>C (p.Asn753=)
c.2364T>C (p.Asn788=)
c.981T>C (p.Asn327=)
c.2292T>C (p.Asn764=)
c.2223T>C (p.Asn741=)
n.1140T>C
c.133T>C
c.2343T>C (p.Asn781=)
c.2274T>C (p.Asn758=)
c.2346T>C (p.Asn782=)
n.2592T>C
c.2328T>C (p.Asn776=)
c.1683T>C (p.Asn561=)
c.2277T>C (p.Asn759=)
c.2295T>C (p.Asn765=)
c.726T>C (p.Asn242=)
c.1137T>C (p.Asn379=)
c.2238T>C (p.Asn746=)
c.2325T>C (p.Asn775=)
c.2256T>C (p.Asn752=)
c.1788T>C (p.Asn596=)
Xg.41531166A>TCA412990527CASKc.2310T>A (p.Asn770Lys)
c.2307T>A (p.Asn769Lys)
c.2361T>A (p.Asn787Lys)
c.2259T>A (p.Asn753Lys)
c.2364T>A (p.Asn788Lys)
c.981T>A (p.Asn327Lys)
c.2292T>A (p.Asn764Lys)
c.2223T>A (p.Asn741Lys)
n.1140T>A
c.133T>A
c.2343T>A (p.Asn781Lys)
c.2274T>A (p.Asn758Lys)
c.2346T>A (p.Asn782Lys)
n.2592T>A
c.2328T>A (p.Asn776Lys)
c.1683T>A (p.Asn561Lys)
c.2277T>A (p.Asn759Lys)
c.2295T>A (p.Asn765Lys)
c.726T>A (p.Asn242Lys)
c.1137T>A (p.Asn379Lys)
c.2238T>A (p.Asn746Lys)
c.2325T>A (p.Asn775Lys)
c.2256T>A (p.Asn752Lys)
c.1788T>A (p.Asn596Lys)
Xg.41531167T>ACA412990530CASKc.2309A>T (p.Asn770Ile)
c.2306A>T (p.Asn769Ile)
c.2360A>T (p.Asn787Ile)
c.2258A>T (p.Asn753Ile)
c.2363A>T (p.Asn788Ile)
c.980A>T (p.Asn327Ile)
c.2291A>T (p.Asn764Ile)
c.2222A>T (p.Asn741Ile)
n.1139A>T
c.132A>T
c.2342A>T (p.Asn781Ile)
c.2273A>T (p.Asn758Ile)
c.2345A>T (p.Asn782Ile)
n.2591A>T
c.2327A>T (p.Asn776Ile)
c.1682A>T (p.Asn561Ile)
c.2276A>T (p.Asn759Ile)
c.2294A>T (p.Asn765Ile)
c.725A>T (p.Asn242Ile)
c.1136A>T (p.Asn379Ile)
c.2237A>T (p.Asn746Ile)
c.2324A>T (p.Asn775Ile)
c.2255A>T (p.Asn752Ile)
c.1787A>T (p.Asn596Ile)
Xg.41531167T>CCA412990532CASKc.2309A>G (p.Asn770Ser)
c.2306A>G (p.Asn769Ser)
c.2360A>G (p.Asn787Ser)
c.2258A>G (p.Asn753Ser)
c.2363A>G (p.Asn788Ser)
c.980A>G (p.Asn327Ser)
c.2291A>G (p.Asn764Ser)
c.2222A>G (p.Asn741Ser)
n.1139A>G
c.132A>G
c.2342A>G (p.Asn781Ser)
c.2273A>G (p.Asn758Ser)
c.2345A>G (p.Asn782Ser)
n.2591A>G
c.2327A>G (p.Asn776Ser)
c.1682A>G (p.Asn561Ser)
c.2276A>G (p.Asn759Ser)
c.2294A>G (p.Asn765Ser)
c.725A>G (p.Asn242Ser)
c.1136A>G (p.Asn379Ser)
c.2237A>G (p.Asn746Ser)
c.2324A>G (p.Asn775Ser)
c.2255A>G (p.Asn752Ser)
c.1787A>G (p.Asn596Ser)
Xg.41531167T>GCA412990533CASKc.2309A>C (p.Asn770Thr)
c.2306A>C (p.Asn769Thr)
c.2360A>C (p.Asn787Thr)
c.2258A>C (p.Asn753Thr)
c.2363A>C (p.Asn788Thr)
c.980A>C (p.Asn327Thr)
c.2291A>C (p.Asn764Thr)
c.2222A>C (p.Asn741Thr)
n.1139A>C
c.132A>C
c.2342A>C (p.Asn781Thr)
c.2273A>C (p.Asn758Thr)
c.2345A>C (p.Asn782Thr)
n.2591A>C
c.2327A>C (p.Asn776Thr)
c.1682A>C (p.Asn561Thr)
c.2276A>C (p.Asn759Thr)
c.2294A>C (p.Asn765Thr)
c.725A>C (p.Asn242Thr)
c.1136A>C (p.Asn379Thr)
c.2237A>C (p.Asn746Thr)
c.2324A>C (p.Asn775Thr)
c.2255A>C (p.Asn752Thr)
c.1787A>C (p.Asn596Thr)
Xg.41531168T>ACA412990534CASKc.2308A>T (p.Asn770Tyr)
c.2305A>T (p.Asn769Tyr)
c.2359A>T (p.Asn787Tyr)
c.2257A>T (p.Asn753Tyr)
c.2362A>T (p.Asn788Tyr)
c.979A>T (p.Asn327Tyr)
c.2290A>T (p.Asn764Tyr)
c.2221A>T (p.Asn741Tyr)
n.1138A>T
c.131A>T
c.2341A>T (p.Asn781Tyr)
c.2272A>T (p.Asn758Tyr)
c.2344A>T (p.Asn782Tyr)
n.2590A>T
c.2326A>T (p.Asn776Tyr)
c.1681A>T (p.Asn561Tyr)
c.2275A>T (p.Asn759Tyr)
c.2293A>T (p.Asn765Tyr)
c.724A>T (p.Asn242Tyr)
c.1135A>T (p.Asn379Tyr)
c.2236A>T (p.Asn746Tyr)
c.2323A>T (p.Asn775Tyr)
c.2254A>T (p.Asn752Tyr)
c.1786A>T (p.Asn596Tyr)
Xg.41531168T>CCA412990536CASKc.2308A>G (p.Asn770Asp)
c.2305A>G (p.Asn769Asp)
c.2359A>G (p.Asn787Asp)
c.2257A>G (p.Asn753Asp)
c.2362A>G (p.Asn788Asp)
c.979A>G (p.Asn327Asp)
c.2290A>G (p.Asn764Asp)
c.2221A>G (p.Asn741Asp)
n.1138A>G
c.131A>G
c.2341A>G (p.Asn781Asp)
c.2272A>G (p.Asn758Asp)
c.2344A>G (p.Asn782Asp)
n.2590A>G
c.2326A>G (p.Asn776Asp)
c.1681A>G (p.Asn561Asp)
c.2275A>G (p.Asn759Asp)
c.2293A>G (p.Asn765Asp)
c.724A>G (p.Asn242Asp)
c.1135A>G (p.Asn379Asp)
c.2236A>G (p.Asn746Asp)
c.2323A>G (p.Asn775Asp)
c.2254A>G (p.Asn752Asp)
c.1786A>G (p.Asn596Asp)
Xg.41531168T>GCA412990538CASKc.2308A>C (p.Asn770His)
c.2305A>C (p.Asn769His)
c.2359A>C (p.Asn787His)
c.2257A>C (p.Asn753His)
c.2362A>C (p.Asn788His)
c.979A>C (p.Asn327His)
c.2290A>C (p.Asn764His)
c.2221A>C (p.Asn741His)
n.1138A>C
c.131A>C
c.2341A>C (p.Asn781His)
c.2272A>C (p.Asn758His)
c.2344A>C (p.Asn782His)
n.2590A>C
c.2326A>C (p.Asn776His)
c.1681A>C (p.Asn561His)
c.2275A>C (p.Asn759His)
c.2293A>C (p.Asn765His)
c.724A>C (p.Asn242His)
c.1135A>C (p.Asn379His)
c.2236A>C (p.Asn746His)
c.2323A>C (p.Asn775His)
c.2254A>C (p.Asn752His)
c.1786A>C (p.Asn596His)
Xg.41531169C>ACA412990540CASKc.2307G>T (p.Lys769Asn)
c.2304G>T (p.Lys768Asn)
c.2358G>T (p.Lys786Asn)
c.2256G>T (p.Lys752Asn)
c.2361G>T (p.Lys787Asn)
c.978G>T (p.Lys326Asn)
c.2289G>T (p.Lys763Asn)
c.2220G>T (p.Lys740Asn)
n.1137G>T
c.130G>T
c.2340G>T (p.Lys780Asn)
c.2271G>T (p.Lys757Asn)
c.2343G>T (p.Lys781Asn)
n.2589G>T
c.2325G>T (p.Lys775Asn)
c.1680G>T (p.Lys560Asn)
c.2274G>T (p.Lys758Asn)
c.2292G>T (p.Lys764Asn)
c.723G>T (p.Lys241Asn)
c.1134G>T (p.Lys378Asn)
c.2235G>T (p.Lys745Asn)
c.2322G>T (p.Lys774Asn)
c.2253G>T (p.Lys751Asn)
c.1785G>T (p.Lys595Asn)
 ClinVar dbSNP
Xg.41531169C=CA2425947712CASKc.2307G= (p.Lys769=)
c.2304G= (p.Lys768=)
c.2358G= (p.Lys786=)
c.2256G= (p.Lys752=)
c.2361G= (p.Lys787=)
c.978G= (p.Lys326=)
c.2289G= (p.Lys763=)
c.2220G= (p.Lys740=)
n.1137G=
c.130G=
c.2340G= (p.Lys780=)
c.2271G= (p.Lys757=)
c.2343G= (p.Lys781=)
n.2589G=
c.2325G= (p.Lys775=)
c.1680G= (p.Lys560=)
c.2274G= (p.Lys758=)
c.2292G= (p.Lys764=)
c.723G= (p.Lys241=)
c.1134G= (p.Lys378=)
c.2235G= (p.Lys745=)
c.2322G= (p.Lys774=)
c.2253G= (p.Lys751=)
c.1785G= (p.Lys595=)
Xg.41531169C>GCA412990542CASKc.2307G>C (p.Lys769Asn)
c.2304G>C (p.Lys768Asn)
c.2358G>C (p.Lys786Asn)
c.2256G>C (p.Lys752Asn)
c.2361G>C (p.Lys787Asn)
c.978G>C (p.Lys326Asn)
c.2289G>C (p.Lys763Asn)
c.2220G>C (p.Lys740Asn)
n.1137G>C
c.130G>C
c.2340G>C (p.Lys780Asn)
c.2271G>C (p.Lys757Asn)
c.2343G>C (p.Lys781Asn)
n.2589G>C
c.2325G>C (p.Lys775Asn)
c.1680G>C (p.Lys560Asn)
c.2274G>C (p.Lys758Asn)
c.2292G>C (p.Lys764Asn)
c.723G>C (p.Lys241Asn)
c.1134G>C (p.Lys378Asn)
c.2235G>C (p.Lys745Asn)
c.2322G>C (p.Lys774Asn)
c.2253G>C (p.Lys751Asn)
c.1785G>C (p.Lys595Asn)
Xg.41531169C>TCA516099534CASKc.2307G>A (p.Lys769=)
c.2304G>A (p.Lys768=)
c.2358G>A (p.Lys786=)
c.2256G>A (p.Lys752=)
c.2361G>A (p.Lys787=)
c.978G>A (p.Lys326=)
c.2289G>A (p.Lys763=)
c.2220G>A (p.Lys740=)
n.1137G>A
c.130G>A
c.2340G>A (p.Lys780=)
c.2271G>A (p.Lys757=)
c.2343G>A (p.Lys781=)
n.2589G>A
c.2325G>A (p.Lys775=)
c.1680G>A (p.Lys560=)
c.2274G>A (p.Lys758=)
c.2292G>A (p.Lys764=)
c.723G>A (p.Lys241=)
c.1134G>A (p.Lys378=)
c.2235G>A (p.Lys745=)
c.2322G>A (p.Lys774=)
c.2253G>A (p.Lys751=)
c.1785G>A (p.Lys595=)
Xg.41531170T>ACA412990545CASKc.2306A>T (p.Lys769Met)
c.2303A>T (p.Lys768Met)
c.2357A>T (p.Lys786Met)
c.2255A>T (p.Lys752Met)
c.2360A>T (p.Lys787Met)
c.977A>T (p.Lys326Met)
c.2288A>T (p.Lys763Met)
c.2219A>T (p.Lys740Met)
n.1136A>T
c.129A>T
c.2339A>T (p.Lys780Met)
c.2270A>T (p.Lys757Met)
c.2342A>T (p.Lys781Met)
n.2588A>T
c.2324A>T (p.Lys775Met)
c.1679A>T (p.Lys560Met)
c.2273A>T (p.Lys758Met)
c.2291A>T (p.Lys764Met)
c.722A>T (p.Lys241Met)
c.1133A>T (p.Lys378Met)
c.2234A>T (p.Lys745Met)
c.2321A>T (p.Lys774Met)
c.2252A>T (p.Lys751Met)
c.1784A>T (p.Lys595Met)
Xg.41531170T>CCA412990547CASKc.2306A>G (p.Lys769Arg)
c.2303A>G (p.Lys768Arg)
c.2357A>G (p.Lys786Arg)
c.2255A>G (p.Lys752Arg)
c.2360A>G (p.Lys787Arg)
c.977A>G (p.Lys326Arg)
c.2288A>G (p.Lys763Arg)
c.2219A>G (p.Lys740Arg)
n.1136A>G
c.129A>G
c.2339A>G (p.Lys780Arg)
c.2270A>G (p.Lys757Arg)
c.2342A>G (p.Lys781Arg)
n.2588A>G
c.2324A>G (p.Lys775Arg)
c.1679A>G (p.Lys560Arg)
c.2273A>G (p.Lys758Arg)
c.2291A>G (p.Lys764Arg)
c.722A>G (p.Lys241Arg)
c.1133A>G (p.Lys378Arg)
c.2234A>G (p.Lys745Arg)
c.2321A>G (p.Lys774Arg)
c.2252A>G (p.Lys751Arg)
c.1784A>G (p.Lys595Arg)
Xg.41531170T>GCA412990544CASKc.2306A>C (p.Lys769Thr)
c.2303A>C (p.Lys768Thr)
c.2357A>C (p.Lys786Thr)
c.2255A>C (p.Lys752Thr)
c.2360A>C (p.Lys787Thr)
c.977A>C (p.Lys326Thr)
c.2288A>C (p.Lys763Thr)
c.2219A>C (p.Lys740Thr)
n.1136A>C
c.129A>C
c.2339A>C (p.Lys780Thr)
c.2270A>C (p.Lys757Thr)
c.2342A>C (p.Lys781Thr)
n.2588A>C
c.2324A>C (p.Lys775Thr)
c.1679A>C (p.Lys560Thr)
c.2273A>C (p.Lys758Thr)
c.2291A>C (p.Lys764Thr)
c.722A>C (p.Lys241Thr)
c.1133A>C (p.Lys378Thr)
c.2234A>C (p.Lys745Thr)
c.2321A>C (p.Lys774Thr)
c.2252A>C (p.Lys751Thr)
c.1784A>C (p.Lys595Thr)
Xg.41531171T>ACA412990549CASKc.2305A>T (p.Lys769Ter)
c.2302A>T (p.Lys768Ter)
c.2356A>T (p.Lys786Ter)
c.2254A>T (p.Lys752Ter)
c.2359A>T (p.Lys787Ter)
c.976A>T (p.Lys326Ter)
c.2287A>T (p.Lys763Ter)
c.2218A>T (p.Lys740Ter)
n.1135A>T
c.128A>T
c.2338A>T (p.Lys780Ter)
c.2269A>T (p.Lys757Ter)
c.2341A>T (p.Lys781Ter)
n.2587A>T
c.2323A>T (p.Lys775Ter)
c.1678A>T (p.Lys560Ter)
c.2272A>T (p.Lys758Ter)
c.2290A>T (p.Lys764Ter)
c.721A>T (p.Lys241Ter)
c.1132A>T (p.Lys378Ter)
c.2233A>T (p.Lys745Ter)
c.2320A>T (p.Lys774Ter)
c.2251A>T (p.Lys751Ter)
c.1783A>T (p.Lys595Ter)
Xg.41531171T>CCA412990553CASKc.2305A>G (p.Lys769Glu)
c.2302A>G (p.Lys768Glu)
c.2356A>G (p.Lys786Glu)
c.2254A>G (p.Lys752Glu)
c.2359A>G (p.Lys787Glu)
c.976A>G (p.Lys326Glu)
c.2287A>G (p.Lys763Glu)
c.2218A>G (p.Lys740Glu)
n.1135A>G
c.128A>G
c.2338A>G (p.Lys780Glu)
c.2269A>G (p.Lys757Glu)
c.2341A>G (p.Lys781Glu)
n.2587A>G
c.2323A>G (p.Lys775Glu)
c.1678A>G (p.Lys560Glu)
c.2272A>G (p.Lys758Glu)
c.2290A>G (p.Lys764Glu)
c.721A>G (p.Lys241Glu)
c.1132A>G (p.Lys378Glu)
c.2233A>G (p.Lys745Glu)
c.2320A>G (p.Lys774Glu)
c.2251A>G (p.Lys751Glu)
c.1783A>G (p.Lys595Glu)
 dbSNP
Xg.41531171T>GCA412990551CASKc.2305A>C (p.Lys769Gln)
c.2302A>C (p.Lys768Gln)
c.2356A>C (p.Lys786Gln)
c.2254A>C (p.Lys752Gln)
c.2359A>C (p.Lys787Gln)
c.976A>C (p.Lys326Gln)
c.2287A>C (p.Lys763Gln)
c.2218A>C (p.Lys740Gln)
n.1135A>C
c.128A>C
c.2338A>C (p.Lys780Gln)
c.2269A>C (p.Lys757Gln)
c.2341A>C (p.Lys781Gln)
n.2587A>C
c.2323A>C (p.Lys775Gln)
c.1678A>C (p.Lys560Gln)
c.2272A>C (p.Lys758Gln)
c.2290A>C (p.Lys764Gln)
c.721A>C (p.Lys241Gln)
c.1132A>C (p.Lys378Gln)
c.2233A>C (p.Lys745Gln)
c.2320A>C (p.Lys774Gln)
c.2251A>C (p.Lys751Gln)
c.1783A>C (p.Lys595Gln)
Xg.41531171T=CA2425947713CASKc.2305A= (p.Lys769=)
c.2302A= (p.Lys768=)
c.2356A= (p.Lys786=)
c.2254A= (p.Lys752=)
c.2359A= (p.Lys787=)
c.976A= (p.Lys326=)
c.2287A= (p.Lys763=)
c.2218A= (p.Lys740=)
n.1135A=
c.128A=
c.2338A= (p.Lys780=)
c.2269A= (p.Lys757=)
c.2341A= (p.Lys781=)
n.2587A=
c.2323A= (p.Lys775=)
c.1678A= (p.Lys560=)
c.2272A= (p.Lys758=)
c.2290A= (p.Lys764=)
c.721A= (p.Lys241=)
c.1132A= (p.Lys378=)
c.2233A= (p.Lys745=)
c.2320A= (p.Lys774=)
c.2251A= (p.Lys751=)
c.1783A= (p.Lys595=)
Xg.41531172T>ACA516099545CASKc.2304A>T (p.Gly768=)
c.2301A>T (p.Gly767=)
c.2355A>T (p.Gly785=)
c.2253A>T (p.Gly751=)
c.2358A>T (p.Gly786=)
c.975A>T (p.Gly325=)
c.2286A>T (p.Gly762=)
c.2217A>T (p.Gly739=)
n.1134A>T
c.127A>T
c.2337A>T (p.Gly779=)
c.2268A>T (p.Gly756=)
c.2340A>T (p.Gly780=)
n.2586A>T
c.2322A>T (p.Gly774=)
c.1677A>T (p.Gly559=)
c.2271A>T (p.Gly757=)
c.2289A>T (p.Gly763=)
c.720A>T (p.Gly240=)
c.1131A>T (p.Gly377=)
c.2232A>T (p.Gly744=)
c.2319A>T (p.Gly773=)
c.2250A>T (p.Gly750=)
c.1782A>T (p.Gly594=)
Xg.41531172T>CCA516099547CASKc.2304A>G (p.Gly768=)
c.2301A>G (p.Gly767=)
c.2355A>G (p.Gly785=)
c.2253A>G (p.Gly751=)
c.2358A>G (p.Gly786=)
c.975A>G (p.Gly325=)
c.2286A>G (p.Gly762=)
c.2217A>G (p.Gly739=)
n.1134A>G
c.127A>G
c.2337A>G (p.Gly779=)
c.2268A>G (p.Gly756=)
c.2340A>G (p.Gly780=)
n.2586A>G
c.2322A>G (p.Gly774=)
c.1677A>G (p.Gly559=)
c.2271A>G (p.Gly757=)
c.2289A>G (p.Gly763=)
c.720A>G (p.Gly240=)
c.1131A>G (p.Gly377=)
c.2232A>G (p.Gly744=)
c.2319A>G (p.Gly773=)
c.2250A>G (p.Gly750=)
c.1782A>G (p.Gly594=)
Xg.41531172T>GCA516099549CASKc.2304A>C (p.Gly768=)
c.2301A>C (p.Gly767=)
c.2355A>C (p.Gly785=)
c.2253A>C (p.Gly751=)
c.2358A>C (p.Gly786=)
c.975A>C (p.Gly325=)
c.2286A>C (p.Gly762=)
c.2217A>C (p.Gly739=)
n.1134A>C
c.127A>C
c.2337A>C (p.Gly779=)
c.2268A>C (p.Gly756=)
c.2340A>C (p.Gly780=)
n.2586A>C
c.2322A>C (p.Gly774=)
c.1677A>C (p.Gly559=)
c.2271A>C (p.Gly757=)
c.2289A>C (p.Gly763=)
c.720A>C (p.Gly240=)
c.1131A>C (p.Gly377=)
c.2232A>C (p.Gly744=)
c.2319A>C (p.Gly773=)
c.2250A>C (p.Gly750=)
c.1782A>C (p.Gly594=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531172T=CA2425947714CASKc.2304A= (p.Gly768=)
c.2301A= (p.Gly767=)
c.2355A= (p.Gly785=)
c.2253A= (p.Gly751=)
c.2358A= (p.Gly786=)
c.975A= (p.Gly325=)
c.2286A= (p.Gly762=)
c.2217A= (p.Gly739=)
n.1134A=
c.127A=
c.2337A= (p.Gly779=)
c.2268A= (p.Gly756=)
c.2340A= (p.Gly780=)
n.2586A=
c.2322A= (p.Gly774=)
c.1677A= (p.Gly559=)
c.2271A= (p.Gly757=)
c.2289A= (p.Gly763=)
c.720A= (p.Gly240=)
c.1131A= (p.Gly377=)
c.2232A= (p.Gly744=)
c.2319A= (p.Gly773=)
c.2250A= (p.Gly750=)
c.1782A= (p.Gly594=)
Xg.41531173C>ACA412990555CASKc.2303G>T (p.Gly768Val)
c.2300G>T (p.Gly767Val)
c.2354G>T (p.Gly785Val)
c.2252G>T (p.Gly751Val)
c.2357G>T (p.Gly786Val)
c.974G>T (p.Gly325Val)
c.2285G>T (p.Gly762Val)
c.2216G>T (p.Gly739Val)
n.1133G>T
c.126G>T
c.2336G>T (p.Gly779Val)
c.2267G>T (p.Gly756Val)
c.2339G>T (p.Gly780Val)
n.2585G>T
c.2321G>T (p.Gly774Val)
c.1676G>T (p.Gly559Val)
c.2270G>T (p.Gly757Val)
c.2288G>T (p.Gly763Val)
c.719G>T (p.Gly240Val)
c.1130G>T (p.Gly377Val)
c.2231G>T (p.Gly744Val)
c.2318G>T (p.Gly773Val)
c.2249G>T (p.Gly750Val)
c.1781G>T (p.Gly594Val)
Xg.41531173C>GCA412990557CASKc.2303G>C (p.Gly768Ala)
c.2300G>C (p.Gly767Ala)
c.2354G>C (p.Gly785Ala)
c.2252G>C (p.Gly751Ala)
c.2357G>C (p.Gly786Ala)
c.974G>C (p.Gly325Ala)
c.2285G>C (p.Gly762Ala)
c.2216G>C (p.Gly739Ala)
n.1133G>C
c.126G>C
c.2336G>C (p.Gly779Ala)
c.2267G>C (p.Gly756Ala)
c.2339G>C (p.Gly780Ala)
n.2585G>C
c.2321G>C (p.Gly774Ala)
c.1676G>C (p.Gly559Ala)
c.2270G>C (p.Gly757Ala)
c.2288G>C (p.Gly763Ala)
c.719G>C (p.Gly240Ala)
c.1130G>C (p.Gly377Ala)
c.2231G>C (p.Gly744Ala)
c.2318G>C (p.Gly773Ala)
c.2249G>C (p.Gly750Ala)
c.1781G>C (p.Gly594Ala)
Xg.41531173C>TCA412990558CASKc.2303G>A (p.Gly768Glu)
c.2300G>A (p.Gly767Glu)
c.2354G>A (p.Gly785Glu)
c.2252G>A (p.Gly751Glu)
c.2357G>A (p.Gly786Glu)
c.974G>A (p.Gly325Glu)
c.2285G>A (p.Gly762Glu)
c.2216G>A (p.Gly739Glu)
n.1133G>A
c.126G>A
c.2336G>A (p.Gly779Glu)
c.2267G>A (p.Gly756Glu)
c.2339G>A (p.Gly780Glu)
n.2585G>A
c.2321G>A (p.Gly774Glu)
c.1676G>A (p.Gly559Glu)
c.2270G>A (p.Gly757Glu)
c.2288G>A (p.Gly763Glu)
c.719G>A (p.Gly240Glu)
c.1130G>A (p.Gly377Glu)
c.2231G>A (p.Gly744Glu)
c.2318G>A (p.Gly773Glu)
c.2249G>A (p.Gly750Glu)
c.1781G>A (p.Gly594Glu)
Xg.41531174C>ACA412990560CASKc.2302G>T (p.Gly768Ter)
c.2299G>T (p.Gly767Ter)
c.2353G>T (p.Gly785Ter)
c.2251G>T (p.Gly751Ter)
c.2356G>T (p.Gly786Ter)
c.973G>T (p.Gly325Ter)
c.2284G>T (p.Gly762Ter)
c.2215G>T (p.Gly739Ter)
n.1132G>T
c.125G>T
c.2335G>T (p.Gly779Ter)
c.2266G>T (p.Gly756Ter)
c.2338G>T (p.Gly780Ter)
n.2584G>T
c.2320G>T (p.Gly774Ter)
c.1675G>T (p.Gly559Ter)
c.2269G>T (p.Gly757Ter)
c.2287G>T (p.Gly763Ter)
c.718G>T (p.Gly240Ter)
c.1129G>T (p.Gly377Ter)
c.2230G>T (p.Gly744Ter)
c.2317G>T (p.Gly773Ter)
c.2248G>T (p.Gly750Ter)
c.1780G>T (p.Gly594Ter)
Xg.41531174C>GCA412990562CASKc.2302G>C (p.Gly768Arg)
c.2299G>C (p.Gly767Arg)
c.2353G>C (p.Gly785Arg)
c.2251G>C (p.Gly751Arg)
c.2356G>C (p.Gly786Arg)
c.973G>C (p.Gly325Arg)
c.2284G>C (p.Gly762Arg)
c.2215G>C (p.Gly739Arg)
n.1132G>C
c.125G>C
c.2335G>C (p.Gly779Arg)
c.2266G>C (p.Gly756Arg)
c.2338G>C (p.Gly780Arg)
n.2584G>C
c.2320G>C (p.Gly774Arg)
c.1675G>C (p.Gly559Arg)
c.2269G>C (p.Gly757Arg)
c.2287G>C (p.Gly763Arg)
c.718G>C (p.Gly240Arg)
c.1129G>C (p.Gly377Arg)
c.2230G>C (p.Gly744Arg)
c.2317G>C (p.Gly773Arg)
c.2248G>C (p.Gly750Arg)
c.1780G>C (p.Gly594Arg)
Xg.41531174C>TCA412990564CASKc.2302G>A (p.Gly768Arg)
c.2299G>A (p.Gly767Arg)
c.2353G>A (p.Gly785Arg)
c.2251G>A (p.Gly751Arg)
c.2356G>A (p.Gly786Arg)
c.973G>A (p.Gly325Arg)
c.2284G>A (p.Gly762Arg)
c.2215G>A (p.Gly739Arg)
n.1132G>A
c.125G>A
c.2335G>A (p.Gly779Arg)
c.2266G>A (p.Gly756Arg)
c.2338G>A (p.Gly780Arg)
n.2584G>A
c.2320G>A (p.Gly774Arg)
c.1675G>A (p.Gly559Arg)
c.2269G>A (p.Gly757Arg)
c.2287G>A (p.Gly763Arg)
c.718G>A (p.Gly240Arg)
c.1129G>A (p.Gly377Arg)
c.2230G>A (p.Gly744Arg)
c.2317G>A (p.Gly773Arg)
c.2248G>A (p.Gly750Arg)
c.1780G>A (p.Gly594Arg)
Xg.41531175A>CCA412990566CASKc.2301T>G (p.Asn767Lys)
c.2298T>G (p.Asn766Lys)
c.2352T>G (p.Asn784Lys)
c.2250T>G (p.Asn750Lys)
c.2355T>G (p.Asn785Lys)
c.972T>G (p.Asn324Lys)
c.2283T>G (p.Asn761Lys)
c.2214T>G (p.Asn738Lys)
n.1131T>G
c.124T>G
c.2334T>G (p.Asn778Lys)
c.2265T>G (p.Asn755Lys)
c.2337T>G (p.Asn779Lys)
n.2583T>G
c.2319T>G (p.Asn773Lys)
c.1674T>G (p.Asn558Lys)
c.2268T>G (p.Asn756Lys)
c.2286T>G (p.Asn762Lys)
c.717T>G (p.Asn239Lys)
c.1128T>G (p.Asn376Lys)
c.2229T>G (p.Asn743Lys)
c.2316T>G (p.Asn772Lys)
c.2247T>G (p.Asn749Lys)
c.1779T>G (p.Asn593Lys)
Xg.41531175A>GCA516099562CASKc.2301T>C (p.Asn767=)
c.2298T>C (p.Asn766=)
c.2352T>C (p.Asn784=)
c.2250T>C (p.Asn750=)
c.2355T>C (p.Asn785=)
c.972T>C (p.Asn324=)
c.2283T>C (p.Asn761=)
c.2214T>C (p.Asn738=)
n.1131T>C
c.124T>C
c.2334T>C (p.Asn778=)
c.2265T>C (p.Asn755=)
c.2337T>C (p.Asn779=)
n.2583T>C
c.2319T>C (p.Asn773=)
c.1674T>C (p.Asn558=)
c.2268T>C (p.Asn756=)
c.2286T>C (p.Asn762=)
c.717T>C (p.Asn239=)
c.1128T>C (p.Asn376=)
c.2229T>C (p.Asn743=)
c.2316T>C (p.Asn772=)
c.2247T>C (p.Asn749=)
c.1779T>C (p.Asn593=)
Xg.41531175A>TCA412990568CASKc.2301T>A (p.Asn767Lys)
c.2298T>A (p.Asn766Lys)
c.2352T>A (p.Asn784Lys)
c.2250T>A (p.Asn750Lys)
c.2355T>A (p.Asn785Lys)
c.972T>A (p.Asn324Lys)
c.2283T>A (p.Asn761Lys)
c.2214T>A (p.Asn738Lys)
n.1131T>A
c.124T>A
c.2334T>A (p.Asn778Lys)
c.2265T>A (p.Asn755Lys)
c.2337T>A (p.Asn779Lys)
n.2583T>A
c.2319T>A (p.Asn773Lys)
c.1674T>A (p.Asn558Lys)
c.2268T>A (p.Asn756Lys)
c.2286T>A (p.Asn762Lys)
c.717T>A (p.Asn239Lys)
c.1128T>A (p.Asn376Lys)
c.2229T>A (p.Asn743Lys)
c.2316T>A (p.Asn772Lys)
c.2247T>A (p.Asn749Lys)
c.1779T>A (p.Asn593Lys)
Xg.41531176T>ACA412990570CASKc.2300A>T (p.Asn767Ile)
c.2297A>T (p.Asn766Ile)
c.2351A>T (p.Asn784Ile)
c.2249A>T (p.Asn750Ile)
c.2354A>T (p.Asn785Ile)
c.971A>T (p.Asn324Ile)
c.2282A>T (p.Asn761Ile)
c.2213A>T (p.Asn738Ile)
n.1130A>T
c.123A>T
c.2333A>T (p.Asn778Ile)
c.2264A>T (p.Asn755Ile)
c.2336A>T (p.Asn779Ile)
n.2582A>T
c.2318A>T (p.Asn773Ile)
c.1673A>T (p.Asn558Ile)
c.2267A>T (p.Asn756Ile)
c.2285A>T (p.Asn762Ile)
c.716A>T (p.Asn239Ile)
c.1127A>T (p.Asn376Ile)
c.2228A>T (p.Asn743Ile)
c.2315A>T (p.Asn772Ile)
c.2246A>T (p.Asn749Ile)
c.1778A>T (p.Asn593Ile)
Xg.41531176T>CCA412990572CASKc.2300A>G (p.Asn767Ser)
c.2297A>G (p.Asn766Ser)
c.2351A>G (p.Asn784Ser)
c.2249A>G (p.Asn750Ser)
c.2354A>G (p.Asn785Ser)
c.971A>G (p.Asn324Ser)
c.2282A>G (p.Asn761Ser)
c.2213A>G (p.Asn738Ser)
n.1130A>G
c.123A>G
c.2333A>G (p.Asn778Ser)
c.2264A>G (p.Asn755Ser)
c.2336A>G (p.Asn779Ser)
n.2582A>G
c.2318A>G (p.Asn773Ser)
c.1673A>G (p.Asn558Ser)
c.2267A>G (p.Asn756Ser)
c.2285A>G (p.Asn762Ser)
c.716A>G (p.Asn239Ser)
c.1127A>G (p.Asn376Ser)
c.2228A>G (p.Asn743Ser)
c.2315A>G (p.Asn772Ser)
c.2246A>G (p.Asn749Ser)
c.1778A>G (p.Asn593Ser)
 dbSNP
Xg.41531176T>GCA412990574CASKc.2300A>C (p.Asn767Thr)
c.2297A>C (p.Asn766Thr)
c.2351A>C (p.Asn784Thr)
c.2249A>C (p.Asn750Thr)
c.2354A>C (p.Asn785Thr)
c.971A>C (p.Asn324Thr)
c.2282A>C (p.Asn761Thr)
c.2213A>C (p.Asn738Thr)
n.1130A>C
c.123A>C
c.2333A>C (p.Asn778Thr)
c.2264A>C (p.Asn755Thr)
c.2336A>C (p.Asn779Thr)
n.2582A>C
c.2318A>C (p.Asn773Thr)
c.1673A>C (p.Asn558Thr)
c.2267A>C (p.Asn756Thr)
c.2285A>C (p.Asn762Thr)
c.716A>C (p.Asn239Thr)
c.1127A>C (p.Asn376Thr)
c.2228A>C (p.Asn743Thr)
c.2315A>C (p.Asn772Thr)
c.2246A>C (p.Asn749Thr)
c.1778A>C (p.Asn593Thr)
Xg.41531176T=CA2425947715CASKc.2300A= (p.Asn767=)
c.2297A= (p.Asn766=)
c.2351A= (p.Asn784=)
c.2249A= (p.Asn750=)
c.2354A= (p.Asn785=)
c.971A= (p.Asn324=)
c.2282A= (p.Asn761=)
c.2213A= (p.Asn738=)
n.1130A=
c.123A=
c.2333A= (p.Asn778=)
c.2264A= (p.Asn755=)
c.2336A= (p.Asn779=)
n.2582A=
c.2318A= (p.Asn773=)
c.1673A= (p.Asn558=)
c.2267A= (p.Asn756=)
c.2285A= (p.Asn762=)
c.716A= (p.Asn239=)
c.1127A= (p.Asn376=)
c.2228A= (p.Asn743=)
c.2315A= (p.Asn772=)
c.2246A= (p.Asn749=)
c.1778A= (p.Asn593=)
Xg.41531177T>ACA412990580CASKc.2299A>T (p.Asn767Tyr)
c.2296A>T (p.Asn766Tyr)
c.2350A>T (p.Asn784Tyr)
c.2248A>T (p.Asn750Tyr)
c.2353A>T (p.Asn785Tyr)
c.970A>T (p.Asn324Tyr)
c.2281A>T (p.Asn761Tyr)
c.2212A>T (p.Asn738Tyr)
n.1129A>T
c.122A>T
c.2332A>T (p.Asn778Tyr)
c.2263A>T (p.Asn755Tyr)
c.2335A>T (p.Asn779Tyr)
n.2581A>T
c.2317A>T (p.Asn773Tyr)
c.1672A>T (p.Asn558Tyr)
c.2266A>T (p.Asn756Tyr)
c.2284A>T (p.Asn762Tyr)
c.715A>T (p.Asn239Tyr)
c.1126A>T (p.Asn376Tyr)
c.2227A>T (p.Asn743Tyr)
c.2314A>T (p.Asn772Tyr)
c.2245A>T (p.Asn749Tyr)
c.1777A>T (p.Asn593Tyr)
Xg.41531177T>CCA412990576CASKc.2299A>G (p.Asn767Asp)
c.2296A>G (p.Asn766Asp)
c.2350A>G (p.Asn784Asp)
c.2248A>G (p.Asn750Asp)
c.2353A>G (p.Asn785Asp)
c.970A>G (p.Asn324Asp)
c.2281A>G (p.Asn761Asp)
c.2212A>G (p.Asn738Asp)
n.1129A>G
c.122A>G
c.2332A>G (p.Asn778Asp)
c.2263A>G (p.Asn755Asp)
c.2335A>G (p.Asn779Asp)
n.2581A>G
c.2317A>G (p.Asn773Asp)
c.1672A>G (p.Asn558Asp)
c.2266A>G (p.Asn756Asp)
c.2284A>G (p.Asn762Asp)
c.715A>G (p.Asn239Asp)
c.1126A>G (p.Asn376Asp)
c.2227A>G (p.Asn743Asp)
c.2314A>G (p.Asn772Asp)
c.2245A>G (p.Asn749Asp)
c.1777A>G (p.Asn593Asp)
 dbSNP gnomAD v4
Xg.41531177T>GCA412990578CASKc.2299A>C (p.Asn767His)
c.2296A>C (p.Asn766His)
c.2350A>C (p.Asn784His)
c.2248A>C (p.Asn750His)
c.2353A>C (p.Asn785His)
c.970A>C (p.Asn324His)
c.2281A>C (p.Asn761His)
c.2212A>C (p.Asn738His)
n.1129A>C
c.122A>C
c.2332A>C (p.Asn778His)
c.2263A>C (p.Asn755His)
c.2335A>C (p.Asn779His)
n.2581A>C
c.2317A>C (p.Asn773His)
c.1672A>C (p.Asn558His)
c.2266A>C (p.Asn756His)
c.2284A>C (p.Asn762His)
c.715A>C (p.Asn239His)
c.1126A>C (p.Asn376His)
c.2227A>C (p.Asn743His)
c.2314A>C (p.Asn772His)
c.2245A>C (p.Asn749His)
c.1777A>C (p.Asn593His)
Xg.41531177T=CA2425947716CASKc.2299A= (p.Asn767=)
c.2296A= (p.Asn766=)
c.2350A= (p.Asn784=)
c.2248A= (p.Asn750=)
c.2353A= (p.Asn785=)
c.970A= (p.Asn324=)
c.2281A= (p.Asn761=)
c.2212A= (p.Asn738=)
n.1129A=
c.122A=
c.2332A= (p.Asn778=)
c.2263A= (p.Asn755=)
c.2335A= (p.Asn779=)
n.2581A=
c.2317A= (p.Asn773=)
c.1672A= (p.Asn558=)
c.2266A= (p.Asn756=)
c.2284A= (p.Asn762=)
c.715A= (p.Asn239=)
c.1126A= (p.Asn376=)
c.2227A= (p.Asn743=)
c.2314A= (p.Asn772=)
c.2245A= (p.Asn749=)
c.1777A= (p.Asn593=)
Xg.41531178T>ACA412990581CASKc.2298A>T (p.Glu766Asp)
c.2295A>T (p.Glu765Asp)
c.2349A>T (p.Glu783Asp)
c.2247A>T (p.Glu749Asp)
c.2352A>T (p.Glu784Asp)
c.969A>T (p.Glu323Asp)
c.2280A>T (p.Glu760Asp)
c.2211A>T (p.Glu737Asp)
n.1128A>T
c.121A>T
c.2331A>T (p.Glu777Asp)
c.2262A>T (p.Glu754Asp)
c.2334A>T (p.Glu778Asp)
n.2580A>T
c.2316A>T (p.Glu772Asp)
c.1671A>T (p.Glu557Asp)
c.2265A>T (p.Glu755Asp)
c.2283A>T (p.Glu761Asp)
c.714A>T (p.Glu238Asp)
c.1125A>T (p.Glu375Asp)
c.2226A>T (p.Glu742Asp)
c.2313A>T (p.Glu771Asp)
c.2244A>T (p.Glu748Asp)
c.1776A>T (p.Glu592Asp)
Xg.41531178T>CCA516099572CASKc.2298A>G (p.Glu766=)
c.2295A>G (p.Glu765=)
c.2349A>G (p.Glu783=)
c.2247A>G (p.Glu749=)
c.2352A>G (p.Glu784=)
c.969A>G (p.Glu323=)
c.2280A>G (p.Glu760=)
c.2211A>G (p.Glu737=)
n.1128A>G
c.121A>G
c.2331A>G (p.Glu777=)
c.2262A>G (p.Glu754=)
c.2334A>G (p.Glu778=)
n.2580A>G
c.2316A>G (p.Glu772=)
c.1671A>G (p.Glu557=)
c.2265A>G (p.Glu755=)
c.2283A>G (p.Glu761=)
c.714A>G (p.Glu238=)
c.1125A>G (p.Glu375=)
c.2226A>G (p.Glu742=)
c.2313A>G (p.Glu771=)
c.2244A>G (p.Glu748=)
c.1776A>G (p.Glu592=)
Xg.41531178T>GCA412990582CASKc.2298A>C (p.Glu766Asp)
c.2295A>C (p.Glu765Asp)
c.2349A>C (p.Glu783Asp)
c.2247A>C (p.Glu749Asp)
c.2352A>C (p.Glu784Asp)
c.969A>C (p.Glu323Asp)
c.2280A>C (p.Glu760Asp)
c.2211A>C (p.Glu737Asp)
n.1128A>C
c.121A>C
c.2331A>C (p.Glu777Asp)
c.2262A>C (p.Glu754Asp)
c.2334A>C (p.Glu778Asp)
n.2580A>C
c.2316A>C (p.Glu772Asp)
c.1671A>C (p.Glu557Asp)
c.2265A>C (p.Glu755Asp)
c.2283A>C (p.Glu761Asp)
c.714A>C (p.Glu238Asp)
c.1125A>C (p.Glu375Asp)
c.2226A>C (p.Glu742Asp)
c.2313A>C (p.Glu771Asp)
c.2244A>C (p.Glu748Asp)
c.1776A>C (p.Glu592Asp)
Xg.41531179T>ACA412990585CASKc.2297A>T (p.Glu766Val)
c.2294A>T (p.Glu765Val)
c.2348A>T (p.Glu783Val)
c.2246A>T (p.Glu749Val)
c.2351A>T (p.Glu784Val)
c.968A>T (p.Glu323Val)
c.2279A>T (p.Glu760Val)
c.2210A>T (p.Glu737Val)
n.1127A>T
c.120A>T
c.2330A>T (p.Glu777Val)
c.2261A>T (p.Glu754Val)
c.2333A>T (p.Glu778Val)
n.2579A>T
c.2315A>T (p.Glu772Val)
c.1670A>T (p.Glu557Val)
c.2264A>T (p.Glu755Val)
c.2282A>T (p.Glu761Val)
c.713A>T (p.Glu238Val)
c.1124A>T (p.Glu375Val)
c.2225A>T (p.Glu742Val)
c.2312A>T (p.Glu771Val)
c.2243A>T (p.Glu748Val)
c.1775A>T (p.Glu592Val)
Xg.41531179T>CCA412990586CASKc.2297A>G (p.Glu766Gly)
c.2294A>G (p.Glu765Gly)
c.2348A>G (p.Glu783Gly)
c.2246A>G (p.Glu749Gly)
c.2351A>G (p.Glu784Gly)
c.968A>G (p.Glu323Gly)
c.2279A>G (p.Glu760Gly)
c.2210A>G (p.Glu737Gly)
n.1127A>G
c.120A>G
c.2330A>G (p.Glu777Gly)
c.2261A>G (p.Glu754Gly)
c.2333A>G (p.Glu778Gly)
n.2579A>G
c.2315A>G (p.Glu772Gly)
c.1670A>G (p.Glu557Gly)
c.2264A>G (p.Glu755Gly)
c.2282A>G (p.Glu761Gly)
c.713A>G (p.Glu238Gly)
c.1124A>G (p.Glu375Gly)
c.2225A>G (p.Glu742Gly)
c.2312A>G (p.Glu771Gly)
c.2243A>G (p.Glu748Gly)
c.1775A>G (p.Glu592Gly)
Xg.41531179T>GCA412990589CASKc.2297A>C (p.Glu766Ala)
c.2294A>C (p.Glu765Ala)
c.2348A>C (p.Glu783Ala)
c.2246A>C (p.Glu749Ala)
c.2351A>C (p.Glu784Ala)
c.968A>C (p.Glu323Ala)
c.2279A>C (p.Glu760Ala)
c.2210A>C (p.Glu737Ala)
n.1127A>C
c.120A>C
c.2330A>C (p.Glu777Ala)
c.2261A>C (p.Glu754Ala)
c.2333A>C (p.Glu778Ala)
n.2579A>C
c.2315A>C (p.Glu772Ala)
c.1670A>C (p.Glu557Ala)
c.2264A>C (p.Glu755Ala)
c.2282A>C (p.Glu761Ala)
c.713A>C (p.Glu238Ala)
c.1124A>C (p.Glu375Ala)
c.2225A>C (p.Glu742Ala)
c.2312A>C (p.Glu771Ala)
c.2243A>C (p.Glu748Ala)
c.1775A>C (p.Glu592Ala)
Xg.41531180C>ACA412990590CASKc.2296G>T (p.Glu766Ter)
c.2293G>T (p.Glu765Ter)
c.2347G>T (p.Glu783Ter)
c.2245G>T (p.Glu749Ter)
c.2350G>T (p.Glu784Ter)
c.967G>T (p.Glu323Ter)
c.2278G>T (p.Glu760Ter)
c.2209G>T (p.Glu737Ter)
n.1126G>T
c.119G>T
c.2329G>T (p.Glu777Ter)
c.2260G>T (p.Glu754Ter)
c.2332G>T (p.Glu778Ter)
n.2578G>T
c.2314G>T (p.Glu772Ter)
c.1669G>T (p.Glu557Ter)
c.2263G>T (p.Glu755Ter)
c.2281G>T (p.Glu761Ter)
c.712G>T (p.Glu238Ter)
c.1123G>T (p.Glu375Ter)
c.2224G>T (p.Glu742Ter)
c.2311G>T (p.Glu771Ter)
c.2242G>T (p.Glu748Ter)
c.1774G>T (p.Glu592Ter)
Xg.41531180C>GCA412990592CASKc.2296G>C (p.Glu766Gln)
c.2293G>C (p.Glu765Gln)
c.2347G>C (p.Glu783Gln)
c.2245G>C (p.Glu749Gln)
c.2350G>C (p.Glu784Gln)
c.967G>C (p.Glu323Gln)
c.2278G>C (p.Glu760Gln)
c.2209G>C (p.Glu737Gln)
n.1126G>C
c.119G>C
c.2329G>C (p.Glu777Gln)
c.2260G>C (p.Glu754Gln)
c.2332G>C (p.Glu778Gln)
n.2578G>C
c.2314G>C (p.Glu772Gln)
c.1669G>C (p.Glu557Gln)
c.2263G>C (p.Glu755Gln)
c.2281G>C (p.Glu761Gln)
c.712G>C (p.Glu238Gln)
c.1123G>C (p.Glu375Gln)
c.2224G>C (p.Glu742Gln)
c.2311G>C (p.Glu771Gln)
c.2242G>C (p.Glu748Gln)
c.1774G>C (p.Glu592Gln)
 gnomAD v4
Xg.41531180C>TCA412990594CASKc.2296G>A (p.Glu766Lys)
c.2293G>A (p.Glu765Lys)
c.2347G>A (p.Glu783Lys)
c.2245G>A (p.Glu749Lys)
c.2350G>A (p.Glu784Lys)
c.967G>A (p.Glu323Lys)
c.2278G>A (p.Glu760Lys)
c.2209G>A (p.Glu737Lys)
n.1126G>A
c.119G>A
c.2329G>A (p.Glu777Lys)
c.2260G>A (p.Glu754Lys)
c.2332G>A (p.Glu778Lys)
n.2578G>A
c.2314G>A (p.Glu772Lys)
c.1669G>A (p.Glu557Lys)
c.2263G>A (p.Glu755Lys)
c.2281G>A (p.Glu761Lys)
c.712G>A (p.Glu238Lys)
c.1123G>A (p.Glu375Lys)
c.2224G>A (p.Glu742Lys)
c.2311G>A (p.Glu771Lys)
c.2242G>A (p.Glu748Lys)
c.1774G>A (p.Glu592Lys)
Xg.41531181T>ACA412990595CASKc.2295A>T (p.Glu765Asp)
c.2292A>T (p.Glu764Asp)
c.2346A>T (p.Glu782Asp)
c.2244A>T (p.Glu748Asp)
c.2349A>T (p.Glu783Asp)
c.966A>T (p.Glu322Asp)
c.2277A>T (p.Glu759Asp)
c.2208A>T (p.Glu736Asp)
n.1125A>T
c.118A>T
c.2328A>T (p.Glu776Asp)
c.2259A>T (p.Glu753Asp)
c.2331A>T (p.Glu777Asp)
n.2577A>T
c.2313A>T (p.Glu771Asp)
c.1668A>T (p.Glu556Asp)
c.2262A>T (p.Glu754Asp)
c.2280A>T (p.Glu760Asp)
c.711A>T (p.Glu237Asp)
c.1122A>T (p.Glu374Asp)
c.2223A>T (p.Glu741Asp)
c.2310A>T (p.Glu770Asp)
c.2241A>T (p.Glu747Asp)
c.1773A>T (p.Glu591Asp)
Xg.41531181T>CCA516099582CASKc.2295A>G (p.Glu765=)
c.2292A>G (p.Glu764=)
c.2346A>G (p.Glu782=)
c.2244A>G (p.Glu748=)
c.2349A>G (p.Glu783=)
c.966A>G (p.Glu322=)
c.2277A>G (p.Glu759=)
c.2208A>G (p.Glu736=)
n.1125A>G
c.118A>G
c.2328A>G (p.Glu776=)
c.2259A>G (p.Glu753=)
c.2331A>G (p.Glu777=)
n.2577A>G
c.2313A>G (p.Glu771=)
c.1668A>G (p.Glu556=)
c.2262A>G (p.Glu754=)
c.2280A>G (p.Glu760=)
c.711A>G (p.Glu237=)
c.1122A>G (p.Glu374=)
c.2223A>G (p.Glu741=)
c.2310A>G (p.Glu770=)
c.2241A>G (p.Glu747=)
c.1773A>G (p.Glu591=)
Xg.41531181T>GCA412990597CASKc.2295A>C (p.Glu765Asp)
c.2292A>C (p.Glu764Asp)
c.2346A>C (p.Glu782Asp)
c.2244A>C (p.Glu748Asp)
c.2349A>C (p.Glu783Asp)
c.966A>C (p.Glu322Asp)
c.2277A>C (p.Glu759Asp)
c.2208A>C (p.Glu736Asp)
n.1125A>C
c.118A>C
c.2328A>C (p.Glu776Asp)
c.2259A>C (p.Glu753Asp)
c.2331A>C (p.Glu777Asp)
n.2577A>C
c.2313A>C (p.Glu771Asp)
c.1668A>C (p.Glu556Asp)
c.2262A>C (p.Glu754Asp)
c.2280A>C (p.Glu760Asp)
c.711A>C (p.Glu237Asp)
c.1122A>C (p.Glu374Asp)
c.2223A>C (p.Glu741Asp)
c.2310A>C (p.Glu770Asp)
c.2241A>C (p.Glu747Asp)
c.1773A>C (p.Glu591Asp)
Xg.41531182delCA2579588860CASKc.2295del (p.Glu766LysfsTer14)
c.2292del (p.Glu765LysfsTer14)
c.2346del (p.Glu783LysfsTer14)
c.2244del (p.Glu749LysfsTer14)
c.2349del (p.Glu784LysfsTer14)
c.966del (p.Glu323LysfsTer14)
c.2277del (p.Glu760LysfsTer14)
c.2208del (p.Glu737LysfsTer14)
n.1125del
c.118del
c.2328del (p.Glu777LysfsTer14)
c.2259del (p.Glu754LysfsTer14)
c.2331del (p.Glu778LysfsTer14)
n.2577del
c.2313del (p.Glu772LysfsTer14)
c.1668del (p.Glu557LysfsTer14)
c.2262del (p.Glu755LysfsTer14)
c.2280del (p.Glu761LysfsTer14)
c.711del (p.Glu238LysfsTer14)
c.1122del (p.Glu375LysfsTer14)
c.2223del (p.Glu742LysfsTer14)
c.2310del (p.Glu771LysfsTer14)
c.2241del (p.Glu748LysfsTer14)
c.1773del (p.Glu592LysfsTer14)
Xg.41531182T>ACA412990601CASKc.2294A>T (p.Glu765Val)
c.2291A>T (p.Glu764Val)
c.2345A>T (p.Glu782Val)
c.2243A>T (p.Glu748Val)
c.2348A>T (p.Glu783Val)
c.965A>T (p.Glu322Val)
c.2276A>T (p.Glu759Val)
c.2207A>T (p.Glu736Val)
n.1124A>T
c.117A>T
c.2327A>T (p.Glu776Val)
c.2258A>T (p.Glu753Val)
c.2330A>T (p.Glu777Val)
n.2576A>T
c.2312A>T (p.Glu771Val)
c.1667A>T (p.Glu556Val)
c.2261A>T (p.Glu754Val)
c.2279A>T (p.Glu760Val)
c.710A>T (p.Glu237Val)
c.1121A>T (p.Glu374Val)
c.2222A>T (p.Glu741Val)
c.2309A>T (p.Glu770Val)
c.2240A>T (p.Glu747Val)
c.1772A>T (p.Glu591Val)
Xg.41531182T>CCA412990603CASKc.2294A>G (p.Glu765Gly)
c.2291A>G (p.Glu764Gly)
c.2345A>G (p.Glu782Gly)
c.2243A>G (p.Glu748Gly)
c.2348A>G (p.Glu783Gly)
c.965A>G (p.Glu322Gly)
c.2276A>G (p.Glu759Gly)
c.2207A>G (p.Glu736Gly)
n.1124A>G
c.117A>G
c.2327A>G (p.Glu776Gly)
c.2258A>G (p.Glu753Gly)
c.2330A>G (p.Glu777Gly)
n.2576A>G
c.2312A>G (p.Glu771Gly)
c.1667A>G (p.Glu556Gly)
c.2261A>G (p.Glu754Gly)
c.2279A>G (p.Glu760Gly)
c.710A>G (p.Glu237Gly)
c.1121A>G (p.Glu374Gly)
c.2222A>G (p.Glu741Gly)
c.2309A>G (p.Glu770Gly)
c.2240A>G (p.Glu747Gly)
c.1772A>G (p.Glu591Gly)
 gnomAD v4
Xg.41531182T>GCA412990599CASKc.2294A>C (p.Glu765Ala)
c.2291A>C (p.Glu764Ala)
c.2345A>C (p.Glu782Ala)
c.2243A>C (p.Glu748Ala)
c.2348A>C (p.Glu783Ala)
c.965A>C (p.Glu322Ala)
c.2276A>C (p.Glu759Ala)
c.2207A>C (p.Glu736Ala)
n.1124A>C
c.117A>C
c.2327A>C (p.Glu776Ala)
c.2258A>C (p.Glu753Ala)
c.2330A>C (p.Glu777Ala)
n.2576A>C
c.2312A>C (p.Glu771Ala)
c.1667A>C (p.Glu556Ala)
c.2261A>C (p.Glu754Ala)
c.2279A>C (p.Glu760Ala)
c.710A>C (p.Glu237Ala)
c.1121A>C (p.Glu374Ala)
c.2222A>C (p.Glu741Ala)
c.2309A>C (p.Glu770Ala)
c.2240A>C (p.Glu747Ala)
c.1772A>C (p.Glu591Ala)
Xg.41531183C>ACA10588783CASKc.2293G>T (p.Glu765Ter)
c.2290G>T (p.Glu764Ter)
c.2344G>T (p.Glu782Ter)
c.2242G>T (p.Glu748Ter)
c.2347G>T (p.Glu783Ter)
c.964G>T (p.Glu322Ter)
c.2275G>T (p.Glu759Ter)
c.2206G>T (p.Glu736Ter)
n.1123G>T
c.116G>T
c.2326G>T (p.Glu776Ter)
c.2257G>T (p.Glu753Ter)
c.2329G>T (p.Glu777Ter)
n.2575G>T
c.2311G>T (p.Glu771Ter)
c.1666G>T (p.Glu556Ter)
c.2260G>T (p.Glu754Ter)
c.2278G>T (p.Glu760Ter)
c.709G>T (p.Glu237Ter)
c.1120G>T (p.Glu374Ter)
c.2221G>T (p.Glu741Ter)
c.2308G>T (p.Glu770Ter)
c.2239G>T (p.Glu747Ter)
c.1771G>T (p.Glu591Ter)
 ClinVar dbSNP
Xg.41531183C=CA2425947717CASKc.2293G= (p.Glu765=)
c.2290G= (p.Glu764=)
c.2344G= (p.Glu782=)
c.2242G= (p.Glu748=)
c.2347G= (p.Glu783=)
c.964G= (p.Glu322=)
c.2275G= (p.Glu759=)
c.2206G= (p.Glu736=)
n.1123G=
c.116G=
c.2326G= (p.Glu776=)
c.2257G= (p.Glu753=)
c.2329G= (p.Glu777=)
n.2575G=
c.2311G= (p.Glu771=)
c.1666G= (p.Glu556=)
c.2260G= (p.Glu754=)
c.2278G= (p.Glu760=)
c.709G= (p.Glu237=)
c.1120G= (p.Glu374=)
c.2221G= (p.Glu741=)
c.2308G= (p.Glu770=)
c.2239G= (p.Glu747=)
c.1771G= (p.Glu591=)
Xg.41531183C>GCA412990607CASKc.2293G>C (p.Glu765Gln)
c.2290G>C (p.Glu764Gln)
c.2344G>C (p.Glu782Gln)
c.2242G>C (p.Glu748Gln)
c.2347G>C (p.Glu783Gln)
c.964G>C (p.Glu322Gln)
c.2275G>C (p.Glu759Gln)
c.2206G>C (p.Glu736Gln)
n.1123G>C
c.116G>C
c.2326G>C (p.Glu776Gln)
c.2257G>C (p.Glu753Gln)
c.2329G>C (p.Glu777Gln)
n.2575G>C
c.2311G>C (p.Glu771Gln)
c.1666G>C (p.Glu556Gln)
c.2260G>C (p.Glu754Gln)
c.2278G>C (p.Glu760Gln)
c.709G>C (p.Glu237Gln)
c.1120G>C (p.Glu374Gln)
c.2221G>C (p.Glu741Gln)
c.2308G>C (p.Glu770Gln)
c.2239G>C (p.Glu747Gln)
c.1771G>C (p.Glu591Gln)
Xg.41531183C>TCA10390031CASKc.2293G>A (p.Glu765Lys)
c.2290G>A (p.Glu764Lys)
c.2344G>A (p.Glu782Lys)
c.2242G>A (p.Glu748Lys)
c.2347G>A (p.Glu783Lys)
c.964G>A (p.Glu322Lys)
c.2275G>A (p.Glu759Lys)
c.2206G>A (p.Glu736Lys)
n.1123G>A
c.116G>A
c.2326G>A (p.Glu776Lys)
c.2257G>A (p.Glu753Lys)
c.2329G>A (p.Glu777Lys)
n.2575G>A
c.2311G>A (p.Glu771Lys)
c.1666G>A (p.Glu556Lys)
c.2260G>A (p.Glu754Lys)
c.2278G>A (p.Glu760Lys)
c.709G>A (p.Glu237Lys)
c.1120G>A (p.Glu374Lys)
c.2221G>A (p.Glu741Lys)
c.2308G>A (p.Glu770Lys)
c.2239G>A (p.Glu747Lys)
c.1771G>A (p.Glu591Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531183_41531185delinsCGTCA2425947718CASKc.2291_2293delinsACG (p.Asp764=)
c.2288_2290delinsACG (p.Asp763=)
c.2342_2344delinsACG (p.Asp781=)
c.2240_2242delinsACG (p.Asp747=)
c.2345_2347delinsACG (p.Asp782=)
c.962_964delinsACG (p.Asp321=)
c.2273_2275delinsACG (p.Asp758=)
c.2204_2206delinsACG (p.Asp735=)
n.1121_1123delinsACG
c.114_116delinsACG
c.2324_2326delinsACG (p.Asp775=)
c.2255_2257delinsACG (p.Asp752=)
c.2327_2329delinsACG (p.Asp776=)
n.2573_2575delinsACG
c.2309_2311delinsACG (p.Asp770=)
c.1664_1666delinsACG (p.Asp555=)
c.2258_2260delinsACG (p.Asp753=)
c.2276_2278delinsACG (p.Asp759=)
c.707_709delinsACG (p.Asp236=)
c.1118_1120delinsACG (p.Asp373=)
c.2219_2221delinsACG (p.Asp740=)
c.2306_2308delinsACG (p.Asp769=)
c.2237_2239delinsACG (p.Asp746=)
c.1769_1771delinsACG (p.Asp590=)
Xg.41531184G>ACA10390032CASKc.2292C>T (p.Asp764=)
c.2289C>T (p.Asp763=)
c.2343C>T (p.Asp781=)
c.2241C>T (p.Asp747=)
c.2346C>T (p.Asp782=)
c.963C>T (p.Asp321=)
c.2274C>T (p.Asp758=)
c.2205C>T (p.Asp735=)
n.1122C>T
c.115C>T
c.2325C>T (p.Asp775=)
c.2256C>T (p.Asp752=)
c.2328C>T (p.Asp776=)
n.2574C>T
c.2310C>T (p.Asp770=)
c.1665C>T (p.Asp555=)
c.2259C>T (p.Asp753=)
c.2277C>T (p.Asp759=)
c.708C>T (p.Asp236=)
c.1119C>T (p.Asp373=)
c.2220C>T (p.Asp740=)
c.2307C>T (p.Asp769=)
c.2238C>T (p.Asp746=)
c.1770C>T (p.Asp590=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531184G>CCA412990611CASKc.2292C>G (p.Asp764Glu)
c.2289C>G (p.Asp763Glu)
c.2343C>G (p.Asp781Glu)
c.2241C>G (p.Asp747Glu)
c.2346C>G (p.Asp782Glu)
c.963C>G (p.Asp321Glu)
c.2274C>G (p.Asp758Glu)
c.2205C>G (p.Asp735Glu)
n.1122C>G
c.115C>G
c.2325C>G (p.Asp775Glu)
c.2256C>G (p.Asp752Glu)
c.2328C>G (p.Asp776Glu)
n.2574C>G
c.2310C>G (p.Asp770Glu)
c.1665C>G (p.Asp555Glu)
c.2259C>G (p.Asp753Glu)
c.2277C>G (p.Asp759Glu)
c.708C>G (p.Asp236Glu)
c.1119C>G (p.Asp373Glu)
c.2220C>G (p.Asp740Glu)
c.2307C>G (p.Asp769Glu)
c.2238C>G (p.Asp746Glu)
c.1770C>G (p.Asp590Glu)
 ClinVar dbSNP gnomAD v4
Xg.41531184G=CA2425947719CASKc.2292C= (p.Asp764=)
c.2289C= (p.Asp763=)
c.2343C= (p.Asp781=)
c.2241C= (p.Asp747=)
c.2346C= (p.Asp782=)
c.963C= (p.Asp321=)
c.2274C= (p.Asp758=)
c.2205C= (p.Asp735=)
n.1122C=
c.115C=
c.2325C= (p.Asp775=)
c.2256C= (p.Asp752=)
c.2328C= (p.Asp776=)
n.2574C=
c.2310C= (p.Asp770=)
c.1665C= (p.Asp555=)
c.2259C= (p.Asp753=)
c.2277C= (p.Asp759=)
c.708C= (p.Asp236=)
c.1119C= (p.Asp373=)
c.2220C= (p.Asp740=)
c.2307C= (p.Asp769=)
c.2238C= (p.Asp746=)
c.1770C= (p.Asp590=)
Xg.41531184G>TCA412990613CASKc.2292C>A (p.Asp764Glu)
c.2289C>A (p.Asp763Glu)
c.2343C>A (p.Asp781Glu)
c.2241C>A (p.Asp747Glu)
c.2346C>A (p.Asp782Glu)
c.963C>A (p.Asp321Glu)
c.2274C>A (p.Asp758Glu)
c.2205C>A (p.Asp735Glu)
n.1122C>A
c.115C>A
c.2325C>A (p.Asp775Glu)
c.2256C>A (p.Asp752Glu)
c.2328C>A (p.Asp776Glu)
n.2574C>A
c.2310C>A (p.Asp770Glu)
c.1665C>A (p.Asp555Glu)
c.2259C>A (p.Asp753Glu)
c.2277C>A (p.Asp759Glu)
c.708C>A (p.Asp236Glu)
c.1119C>A (p.Asp373Glu)
c.2220C>A (p.Asp740Glu)
c.2307C>A (p.Asp769Glu)
c.2238C>A (p.Asp746Glu)
c.1770C>A (p.Asp590Glu)
Xg.41531184_41531185delCA891863111CASKc.2291_2292del (p.Asp764GlyfsTer13)
c.2288_2289del (p.Asp763GlyfsTer13)
c.2342_2343del (p.Asp781GlyfsTer13)
c.2240_2241del (p.Asp747GlyfsTer13)
c.2345_2346del (p.Asp782GlyfsTer13)
c.962_963del (p.Asp321GlyfsTer13)
c.2273_2274del (p.Asp758GlyfsTer13)
c.2204_2205del (p.Asp735GlyfsTer13)
n.1121_1122del
c.114_115del
c.2324_2325del (p.Asp775GlyfsTer13)
c.2255_2256del (p.Asp752GlyfsTer13)
c.2327_2328del (p.Asp776GlyfsTer13)
n.2573_2574del
c.2309_2310del (p.Asp770GlyfsTer13)
c.1664_1665del (p.Asp555GlyfsTer13)
c.2258_2259del (p.Asp753GlyfsTer13)
c.2276_2277del (p.Asp759GlyfsTer13)
c.707_708del (p.Asp236GlyfsTer13)
c.1118_1119del (p.Asp373GlyfsTer13)
c.2219_2220del (p.Asp740GlyfsTer13)
c.2306_2307del (p.Asp769GlyfsTer13)
c.2237_2238del (p.Asp746GlyfsTer13)
c.1769_1770del (p.Asp590GlyfsTer13)
 ClinVar dbSNP
Xg.41531185T>ACA412990614CASKc.2291A>T (p.Asp764Val)
c.2288A>T (p.Asp763Val)
c.2342A>T (p.Asp781Val)
c.2240A>T (p.Asp747Val)
c.2345A>T (p.Asp782Val)
c.962A>T (p.Asp321Val)
c.2273A>T (p.Asp758Val)
c.2204A>T (p.Asp735Val)
n.1121A>T
c.114A>T
c.2324A>T (p.Asp775Val)
c.2255A>T (p.Asp752Val)
c.2327A>T (p.Asp776Val)
n.2573A>T
c.2309A>T (p.Asp770Val)
c.1664A>T (p.Asp555Val)
c.2258A>T (p.Asp753Val)
c.2276A>T (p.Asp759Val)
c.707A>T (p.Asp236Val)
c.1118A>T (p.Asp373Val)
c.2219A>T (p.Asp740Val)
c.2306A>T (p.Asp769Val)
c.2237A>T (p.Asp746Val)
c.1769A>T (p.Asp590Val)
Xg.41531185T>CCA412990616CASKc.2291A>G (p.Asp764Gly)
c.2288A>G (p.Asp763Gly)
c.2342A>G (p.Asp781Gly)
c.2240A>G (p.Asp747Gly)
c.2345A>G (p.Asp782Gly)
c.962A>G (p.Asp321Gly)
c.2273A>G (p.Asp758Gly)
c.2204A>G (p.Asp735Gly)
n.1121A>G
c.114A>G
c.2324A>G (p.Asp775Gly)
c.2255A>G (p.Asp752Gly)
c.2327A>G (p.Asp776Gly)
n.2573A>G
c.2309A>G (p.Asp770Gly)
c.1664A>G (p.Asp555Gly)
c.2258A>G (p.Asp753Gly)
c.2276A>G (p.Asp759Gly)
c.707A>G (p.Asp236Gly)
c.1118A>G (p.Asp373Gly)
c.2219A>G (p.Asp740Gly)
c.2306A>G (p.Asp769Gly)
c.2237A>G (p.Asp746Gly)
c.1769A>G (p.Asp590Gly)
Xg.41531185T>GCA412990618CASKc.2291A>C (p.Asp764Ala)
c.2288A>C (p.Asp763Ala)
c.2342A>C (p.Asp781Ala)
c.2240A>C (p.Asp747Ala)
c.2345A>C (p.Asp782Ala)
c.962A>C (p.Asp321Ala)
c.2273A>C (p.Asp758Ala)
c.2204A>C (p.Asp735Ala)
n.1121A>C
c.114A>C
c.2324A>C (p.Asp775Ala)
c.2255A>C (p.Asp752Ala)
c.2327A>C (p.Asp776Ala)
n.2573A>C
c.2309A>C (p.Asp770Ala)
c.1664A>C (p.Asp555Ala)
c.2258A>C (p.Asp753Ala)
c.2276A>C (p.Asp759Ala)
c.707A>C (p.Asp236Ala)
c.1118A>C (p.Asp373Ala)
c.2219A>C (p.Asp740Ala)
c.2306A>C (p.Asp769Ala)
c.2237A>C (p.Asp746Ala)
c.1769A>C (p.Asp590Ala)
Xg.41531186C>ACA412990620CASKc.2290G>T (p.Asp764Tyr)
c.2287G>T (p.Asp763Tyr)
c.2341G>T (p.Asp781Tyr)
c.2239G>T (p.Asp747Tyr)
c.2344G>T (p.Asp782Tyr)
c.961G>T (p.Asp321Tyr)
c.2272G>T (p.Asp758Tyr)
c.2203G>T (p.Asp735Tyr)
n.1120G>T
c.113G>T
c.2323G>T (p.Asp775Tyr)
c.2254G>T (p.Asp752Tyr)
c.2326G>T (p.Asp776Tyr)
n.2572G>T
c.2308G>T (p.Asp770Tyr)
c.1663G>T (p.Asp555Tyr)
c.2257G>T (p.Asp753Tyr)
c.2275G>T (p.Asp759Tyr)
c.706G>T (p.Asp236Tyr)
c.1117G>T (p.Asp373Tyr)
c.2218G>T (p.Asp740Tyr)
c.2305G>T (p.Asp769Tyr)
c.2236G>T (p.Asp746Tyr)
c.1768G>T (p.Asp590Tyr)
Xg.41531186C>GCA412990622CASKc.2290G>C (p.Asp764His)
c.2287G>C (p.Asp763His)
c.2341G>C (p.Asp781His)
c.2239G>C (p.Asp747His)
c.2344G>C (p.Asp782His)
c.961G>C (p.Asp321His)
c.2272G>C (p.Asp758His)
c.2203G>C (p.Asp735His)
n.1120G>C
c.113G>C
c.2323G>C (p.Asp775His)
c.2254G>C (p.Asp752His)
c.2326G>C (p.Asp776His)
n.2572G>C
c.2308G>C (p.Asp770His)
c.1663G>C (p.Asp555His)
c.2257G>C (p.Asp753His)
c.2275G>C (p.Asp759His)
c.706G>C (p.Asp236His)
c.1117G>C (p.Asp373His)
c.2218G>C (p.Asp740His)
c.2305G>C (p.Asp769His)
c.2236G>C (p.Asp746His)
c.1768G>C (p.Asp590His)
 gnomAD v4
Xg.41531186C>TCA412990624CASKc.2290G>A (p.Asp764Asn)
c.2287G>A (p.Asp763Asn)
c.2341G>A (p.Asp781Asn)
c.2239G>A (p.Asp747Asn)
c.2344G>A (p.Asp782Asn)
c.961G>A (p.Asp321Asn)
c.2272G>A (p.Asp758Asn)
c.2203G>A (p.Asp735Asn)
n.1120G>A
c.113G>A
c.2323G>A (p.Asp775Asn)
c.2254G>A (p.Asp752Asn)
c.2326G>A (p.Asp776Asn)
n.2572G>A
c.2308G>A (p.Asp770Asn)
c.1663G>A (p.Asp555Asn)
c.2257G>A (p.Asp753Asn)
c.2275G>A (p.Asp759Asn)
c.706G>A (p.Asp236Asn)
c.1117G>A (p.Asp373Asn)
c.2218G>A (p.Asp740Asn)
c.2305G>A (p.Asp769Asn)
c.2236G>A (p.Asp746Asn)
c.1768G>A (p.Asp590Asn)
Xg.41531187T>ACA412990628CASKc.2289A>T (p.Lys763Asn)
c.2286A>T (p.Lys762Asn)
c.2340A>T (p.Lys780Asn)
c.2238A>T (p.Lys746Asn)
c.2343A>T (p.Lys781Asn)
c.960A>T (p.Lys320Asn)
c.2271A>T (p.Lys757Asn)
c.2202A>T (p.Lys734Asn)
n.1119A>T
c.112A>T
c.2322A>T (p.Lys774Asn)
c.2253A>T (p.Lys751Asn)
c.2325A>T (p.Lys775Asn)
n.2571A>T
c.2307A>T (p.Lys769Asn)
c.1662A>T (p.Lys554Asn)
c.2256A>T (p.Lys752Asn)
c.2274A>T (p.Lys758Asn)
c.705A>T (p.Lys235Asn)
c.1116A>T (p.Lys372Asn)
c.2217A>T (p.Lys739Asn)
c.2304A>T (p.Lys768Asn)
c.2235A>T (p.Lys745Asn)
c.1767A>T (p.Lys589Asn)
Xg.41531187T>CCA516099610CASKc.2289A>G (p.Lys763=)
c.2286A>G (p.Lys762=)
c.2340A>G (p.Lys780=)
c.2238A>G (p.Lys746=)
c.2343A>G (p.Lys781=)
c.960A>G (p.Lys320=)
c.2271A>G (p.Lys757=)
c.2202A>G (p.Lys734=)
n.1119A>G
c.112A>G
c.2322A>G (p.Lys774=)
c.2253A>G (p.Lys751=)
c.2325A>G (p.Lys775=)
n.2571A>G
c.2307A>G (p.Lys769=)
c.1662A>G (p.Lys554=)
c.2256A>G (p.Lys752=)
c.2274A>G (p.Lys758=)
c.705A>G (p.Lys235=)
c.1116A>G (p.Lys372=)
c.2217A>G (p.Lys739=)
c.2304A>G (p.Lys768=)
c.2235A>G (p.Lys745=)
c.1767A>G (p.Lys589=)
Xg.41531187T>GCA412990626CASKc.2289A>C (p.Lys763Asn)
c.2286A>C (p.Lys762Asn)
c.2340A>C (p.Lys780Asn)
c.2238A>C (p.Lys746Asn)
c.2343A>C (p.Lys781Asn)
c.960A>C (p.Lys320Asn)
c.2271A>C (p.Lys757Asn)
c.2202A>C (p.Lys734Asn)
n.1119A>C
c.112A>C
c.2322A>C (p.Lys774Asn)
c.2253A>C (p.Lys751Asn)
c.2325A>C (p.Lys775Asn)
n.2571A>C
c.2307A>C (p.Lys769Asn)
c.1662A>C (p.Lys554Asn)
c.2256A>C (p.Lys752Asn)
c.2274A>C (p.Lys758Asn)
c.705A>C (p.Lys235Asn)
c.1116A>C (p.Lys372Asn)
c.2217A>C (p.Lys739Asn)
c.2304A>C (p.Lys768Asn)
c.2235A>C (p.Lys745Asn)
c.1767A>C (p.Lys589Asn)
Xg.41531188T>ACA412990630CASKc.2288A>T (p.Lys763Ile)
c.2285A>T (p.Lys762Ile)
c.2339A>T (p.Lys780Ile)
c.2237A>T (p.Lys746Ile)
c.2342A>T (p.Lys781Ile)
c.959A>T (p.Lys320Ile)
c.2270A>T (p.Lys757Ile)
c.2201A>T (p.Lys734Ile)
n.1118A>T
c.111A>T
c.2321A>T (p.Lys774Ile)
c.2252A>T (p.Lys751Ile)
c.2324A>T (p.Lys775Ile)
n.2570A>T
c.2306A>T (p.Lys769Ile)
c.1661A>T (p.Lys554Ile)
c.2255A>T (p.Lys752Ile)
c.2273A>T (p.Lys758Ile)
c.704A>T (p.Lys235Ile)
c.1115A>T (p.Lys372Ile)
c.2216A>T (p.Lys739Ile)
c.2303A>T (p.Lys768Ile)
c.2234A>T (p.Lys745Ile)
c.1766A>T (p.Lys589Ile)
Xg.41531188T>CCA412990632CASKc.2288A>G (p.Lys763Arg)
c.2285A>G (p.Lys762Arg)
c.2339A>G (p.Lys780Arg)
c.2237A>G (p.Lys746Arg)
c.2342A>G (p.Lys781Arg)
c.959A>G (p.Lys320Arg)
c.2270A>G (p.Lys757Arg)
c.2201A>G (p.Lys734Arg)
n.1118A>G
c.111A>G
c.2321A>G (p.Lys774Arg)
c.2252A>G (p.Lys751Arg)
c.2324A>G (p.Lys775Arg)
n.2570A>G
c.2306A>G (p.Lys769Arg)
c.1661A>G (p.Lys554Arg)
c.2255A>G (p.Lys752Arg)
c.2273A>G (p.Lys758Arg)
c.704A>G (p.Lys235Arg)
c.1115A>G (p.Lys372Arg)
c.2216A>G (p.Lys739Arg)
c.2303A>G (p.Lys768Arg)
c.2234A>G (p.Lys745Arg)
c.1766A>G (p.Lys589Arg)
 gnomAD v4
Xg.41531188T>GCA412990634CASKc.2288A>C (p.Lys763Thr)
c.2285A>C (p.Lys762Thr)
c.2339A>C (p.Lys780Thr)
c.2237A>C (p.Lys746Thr)
c.2342A>C (p.Lys781Thr)
c.959A>C (p.Lys320Thr)
c.2270A>C (p.Lys757Thr)
c.2201A>C (p.Lys734Thr)
n.1118A>C
c.111A>C
c.2321A>C (p.Lys774Thr)
c.2252A>C (p.Lys751Thr)
c.2324A>C (p.Lys775Thr)
n.2570A>C
c.2306A>C (p.Lys769Thr)
c.1661A>C (p.Lys554Thr)
c.2255A>C (p.Lys752Thr)
c.2273A>C (p.Lys758Thr)
c.704A>C (p.Lys235Thr)
c.1115A>C (p.Lys372Thr)
c.2216A>C (p.Lys739Thr)
c.2303A>C (p.Lys768Thr)
c.2234A>C (p.Lys745Thr)
c.1766A>C (p.Lys589Thr)
Xg.41531189T>ACA412990635CASKc.2287A>T (p.Lys763Ter)
c.2284A>T (p.Lys762Ter)
c.2338A>T (p.Lys780Ter)
c.2236A>T (p.Lys746Ter)
c.2341A>T (p.Lys781Ter)
c.958A>T (p.Lys320Ter)
c.2269A>T (p.Lys757Ter)
c.2200A>T (p.Lys734Ter)
n.1117A>T
c.110A>T
c.2320A>T (p.Lys774Ter)
c.2251A>T (p.Lys751Ter)
c.2323A>T (p.Lys775Ter)
n.2569A>T
c.2305A>T (p.Lys769Ter)
c.1660A>T (p.Lys554Ter)
c.2254A>T (p.Lys752Ter)
c.2272A>T (p.Lys758Ter)
c.703A>T (p.Lys235Ter)
c.1114A>T (p.Lys372Ter)
c.2215A>T (p.Lys739Ter)
c.2302A>T (p.Lys768Ter)
c.2233A>T (p.Lys745Ter)
c.1765A>T (p.Lys589Ter)
Xg.41531189T>CCA412990636CASKc.2287A>G (p.Lys763Glu)
c.2284A>G (p.Lys762Glu)
c.2338A>G (p.Lys780Glu)
c.2236A>G (p.Lys746Glu)
c.2341A>G (p.Lys781Glu)
c.958A>G (p.Lys320Glu)
c.2269A>G (p.Lys757Glu)
c.2200A>G (p.Lys734Glu)
n.1117A>G
c.110A>G
c.2320A>G (p.Lys774Glu)
c.2251A>G (p.Lys751Glu)
c.2323A>G (p.Lys775Glu)
n.2569A>G
c.2305A>G (p.Lys769Glu)
c.1660A>G (p.Lys554Glu)
c.2254A>G (p.Lys752Glu)
c.2272A>G (p.Lys758Glu)
c.703A>G (p.Lys235Glu)
c.1114A>G (p.Lys372Glu)
c.2215A>G (p.Lys739Glu)
c.2302A>G (p.Lys768Glu)
c.2233A>G (p.Lys745Glu)
c.1765A>G (p.Lys589Glu)
 gnomAD v4
Xg.41531189T>GCA412990638CASKc.2287A>C (p.Lys763Gln)
c.2284A>C (p.Lys762Gln)
c.2338A>C (p.Lys780Gln)
c.2236A>C (p.Lys746Gln)
c.2341A>C (p.Lys781Gln)
c.958A>C (p.Lys320Gln)
c.2269A>C (p.Lys757Gln)
c.2200A>C (p.Lys734Gln)
n.1117A>C
c.110A>C
c.2320A>C (p.Lys774Gln)
c.2251A>C (p.Lys751Gln)
c.2323A>C (p.Lys775Gln)
n.2569A>C
c.2305A>C (p.Lys769Gln)
c.1660A>C (p.Lys554Gln)
c.2254A>C (p.Lys752Gln)
c.2272A>C (p.Lys758Gln)
c.703A>C (p.Lys235Gln)
c.1114A>C (p.Lys372Gln)
c.2215A>C (p.Lys739Gln)
c.2302A>C (p.Lys768Gln)
c.2233A>C (p.Lys745Gln)
c.1765A>C (p.Lys589Gln)
Xg.41531190C>ACA412990640CASKc.2286G>T (p.Lys762Asn)
c.2283G>T (p.Lys761Asn)
c.2337G>T (p.Lys779Asn)
c.2235G>T (p.Lys745Asn)
c.2340G>T (p.Lys780Asn)
c.957G>T (p.Lys319Asn)
c.2268G>T (p.Lys756Asn)
c.2199G>T (p.Lys733Asn)
n.1116G>T
c.109G>T
c.2319G>T (p.Lys773Asn)
c.2250G>T (p.Lys750Asn)
c.2322G>T (p.Lys774Asn)
n.2568G>T
c.2304G>T (p.Lys768Asn)
c.1659G>T (p.Lys553Asn)
c.2253G>T (p.Lys751Asn)
c.2271G>T (p.Lys757Asn)
c.702G>T (p.Lys234Asn)
c.1113G>T (p.Lys371Asn)
c.2214G>T (p.Lys738Asn)
c.2301G>T (p.Lys767Asn)
c.2232G>T (p.Lys744Asn)
c.1764G>T (p.Lys588Asn)
Xg.41531190C>GCA412990642CASKc.2286G>C (p.Lys762Asn)
c.2283G>C (p.Lys761Asn)
c.2337G>C (p.Lys779Asn)
c.2235G>C (p.Lys745Asn)
c.2340G>C (p.Lys780Asn)
c.957G>C (p.Lys319Asn)
c.2268G>C (p.Lys756Asn)
c.2199G>C (p.Lys733Asn)
n.1116G>C
c.109G>C
c.2319G>C (p.Lys773Asn)
c.2250G>C (p.Lys750Asn)
c.2322G>C (p.Lys774Asn)
n.2568G>C
c.2304G>C (p.Lys768Asn)
c.1659G>C (p.Lys553Asn)
c.2253G>C (p.Lys751Asn)
c.2271G>C (p.Lys757Asn)
c.702G>C (p.Lys234Asn)
c.1113G>C (p.Lys371Asn)
c.2214G>C (p.Lys738Asn)
c.2301G>C (p.Lys767Asn)
c.2232G>C (p.Lys744Asn)
c.1764G>C (p.Lys588Asn)
Xg.41531190C>TCA516099623CASKc.2286G>A (p.Lys762=)
c.2283G>A (p.Lys761=)
c.2337G>A (p.Lys779=)
c.2235G>A (p.Lys745=)
c.2340G>A (p.Lys780=)
c.957G>A (p.Lys319=)
c.2268G>A (p.Lys756=)
c.2199G>A (p.Lys733=)
n.1116G>A
c.109G>A
c.2319G>A (p.Lys773=)
c.2250G>A (p.Lys750=)
c.2322G>A (p.Lys774=)
n.2568G>A
c.2304G>A (p.Lys768=)
c.1659G>A (p.Lys553=)
c.2253G>A (p.Lys751=)
c.2271G>A (p.Lys757=)
c.702G>A (p.Lys234=)
c.1113G>A (p.Lys371=)
c.2214G>A (p.Lys738=)
c.2301G>A (p.Lys767=)
c.2232G>A (p.Lys744=)
c.1764G>A (p.Lys588=)
Xg.41531191T>ACA412990643CASKc.2285A>T (p.Lys762Met)
c.2282A>T (p.Lys761Met)
c.2336A>T (p.Lys779Met)
c.2234A>T (p.Lys745Met)
c.2339A>T (p.Lys780Met)
c.956A>T (p.Lys319Met)
c.2267A>T (p.Lys756Met)
c.2198A>T (p.Lys733Met)
n.1115A>T
c.108A>T
c.2318A>T (p.Lys773Met)
c.2249A>T (p.Lys750Met)
c.2321A>T (p.Lys774Met)
n.2567A>T
c.2303A>T (p.Lys768Met)
c.1658A>T (p.Lys553Met)
c.2252A>T (p.Lys751Met)
c.2270A>T (p.Lys757Met)
c.701A>T (p.Lys234Met)
c.1112A>T (p.Lys371Met)
c.2213A>T (p.Lys738Met)
c.2300A>T (p.Lys767Met)
c.2231A>T (p.Lys744Met)
c.1763A>T (p.Lys588Met)
Xg.41531191T>CCA412990645CASKc.2285A>G (p.Lys762Arg)
c.2282A>G (p.Lys761Arg)
c.2336A>G (p.Lys779Arg)
c.2234A>G (p.Lys745Arg)
c.2339A>G (p.Lys780Arg)
c.956A>G (p.Lys319Arg)
c.2267A>G (p.Lys756Arg)
c.2198A>G (p.Lys733Arg)
n.1115A>G
c.108A>G
c.2318A>G (p.Lys773Arg)
c.2249A>G (p.Lys750Arg)
c.2321A>G (p.Lys774Arg)
n.2567A>G
c.2303A>G (p.Lys768Arg)
c.1658A>G (p.Lys553Arg)
c.2252A>G (p.Lys751Arg)
c.2270A>G (p.Lys757Arg)
c.701A>G (p.Lys234Arg)
c.1112A>G (p.Lys371Arg)
c.2213A>G (p.Lys738Arg)
c.2300A>G (p.Lys767Arg)
c.2231A>G (p.Lys744Arg)
c.1763A>G (p.Lys588Arg)
Xg.41531191T>GCA412990647CASKc.2285A>C (p.Lys762Thr)
c.2282A>C (p.Lys761Thr)
c.2336A>C (p.Lys779Thr)
c.2234A>C (p.Lys745Thr)
c.2339A>C (p.Lys780Thr)
c.956A>C (p.Lys319Thr)
c.2267A>C (p.Lys756Thr)
c.2198A>C (p.Lys733Thr)
n.1115A>C
c.108A>C
c.2318A>C (p.Lys773Thr)
c.2249A>C (p.Lys750Thr)
c.2321A>C (p.Lys774Thr)
n.2567A>C
c.2303A>C (p.Lys768Thr)
c.1658A>C (p.Lys553Thr)
c.2252A>C (p.Lys751Thr)
c.2270A>C (p.Lys757Thr)
c.701A>C (p.Lys234Thr)
c.1112A>C (p.Lys371Thr)
c.2213A>C (p.Lys738Thr)
c.2300A>C (p.Lys767Thr)
c.2231A>C (p.Lys744Thr)
c.1763A>C (p.Lys588Thr)
Xg.41531192T>ACA412990649CASKc.2284A>T (p.Lys762Ter)
c.2281A>T (p.Lys761Ter)
c.2335A>T (p.Lys779Ter)
c.2233A>T (p.Lys745Ter)
c.2338A>T (p.Lys780Ter)
c.955A>T (p.Lys319Ter)
c.2266A>T (p.Lys756Ter)
c.2197A>T (p.Lys733Ter)
n.1114A>T
c.107A>T
c.2317A>T (p.Lys773Ter)
c.2248A>T (p.Lys750Ter)
c.2320A>T (p.Lys774Ter)
n.2566A>T
c.2302A>T (p.Lys768Ter)
c.1657A>T (p.Lys553Ter)
c.2251A>T (p.Lys751Ter)
c.2269A>T (p.Lys757Ter)
c.700A>T (p.Lys234Ter)
c.1111A>T (p.Lys371Ter)
c.2212A>T (p.Lys738Ter)
c.2299A>T (p.Lys767Ter)
c.2230A>T (p.Lys744Ter)
c.1762A>T (p.Lys588Ter)
 COSMIC
Xg.41531192T>CCA412990651CASKc.2284A>G (p.Lys762Glu)
c.2281A>G (p.Lys761Glu)
c.2335A>G (p.Lys779Glu)
c.2233A>G (p.Lys745Glu)
c.2338A>G (p.Lys780Glu)
c.955A>G (p.Lys319Glu)
c.2266A>G (p.Lys756Glu)
c.2197A>G (p.Lys733Glu)
n.1114A>G
c.107A>G
c.2317A>G (p.Lys773Glu)
c.2248A>G (p.Lys750Glu)
c.2320A>G (p.Lys774Glu)
n.2566A>G
c.2302A>G (p.Lys768Glu)
c.1657A>G (p.Lys553Glu)
c.2251A>G (p.Lys751Glu)
c.2269A>G (p.Lys757Glu)
c.700A>G (p.Lys234Glu)
c.1111A>G (p.Lys371Glu)
c.2212A>G (p.Lys738Glu)
c.2299A>G (p.Lys767Glu)
c.2230A>G (p.Lys744Glu)
c.1762A>G (p.Lys588Glu)
Xg.41531192T>GCA412990653CASKc.2284A>C (p.Lys762Gln)
c.2281A>C (p.Lys761Gln)
c.2335A>C (p.Lys779Gln)
c.2233A>C (p.Lys745Gln)
c.2338A>C (p.Lys780Gln)
c.955A>C (p.Lys319Gln)
c.2266A>C (p.Lys756Gln)
c.2197A>C (p.Lys733Gln)
n.1114A>C
c.107A>C
c.2317A>C (p.Lys773Gln)
c.2248A>C (p.Lys750Gln)
c.2320A>C (p.Lys774Gln)
n.2566A>C
c.2302A>C (p.Lys768Gln)
c.1657A>C (p.Lys553Gln)
c.2251A>C (p.Lys751Gln)
c.2269A>C (p.Lys757Gln)
c.700A>C (p.Lys234Gln)
c.1111A>C (p.Lys371Gln)
c.2212A>C (p.Lys738Gln)
c.2299A>C (p.Lys767Gln)
c.2230A>C (p.Lys744Gln)
c.1762A>C (p.Lys588Gln)
Xg.41531193T>ACA516099633CASKc.2283A>T (p.Pro761=)
c.2280A>T (p.Pro760=)
c.2334A>T (p.Pro778=)
c.2232A>T (p.Pro744=)
c.2337A>T (p.Pro779=)
c.954A>T (p.Pro318=)
c.2265A>T (p.Pro755=)
c.2196A>T (p.Pro732=)
n.1113A>T
c.106A>T
c.2316A>T (p.Pro772=)
c.2247A>T (p.Pro749=)
c.2319A>T (p.Pro773=)
n.2565A>T
c.2301A>T (p.Pro767=)
c.1656A>T (p.Pro552=)
c.2250A>T (p.Pro750=)
c.2268A>T (p.Pro756=)
c.699A>T (p.Pro233=)
c.1110A>T (p.Pro370=)
c.2211A>T (p.Pro737=)
c.2298A>T (p.Pro766=)
c.2229A>T (p.Pro743=)
c.1761A>T (p.Pro587=)
Xg.41531193T>CCA516099635CASKc.2283A>G (p.Pro761=)
c.2280A>G (p.Pro760=)
c.2334A>G (p.Pro778=)
c.2232A>G (p.Pro744=)
c.2337A>G (p.Pro779=)
c.954A>G (p.Pro318=)
c.2265A>G (p.Pro755=)
c.2196A>G (p.Pro732=)
n.1113A>G
c.106A>G
c.2316A>G (p.Pro772=)
c.2247A>G (p.Pro749=)
c.2319A>G (p.Pro773=)
n.2565A>G
c.2301A>G (p.Pro767=)
c.1656A>G (p.Pro552=)
c.2250A>G (p.Pro750=)
c.2268A>G (p.Pro756=)
c.699A>G (p.Pro233=)
c.1110A>G (p.Pro370=)
c.2211A>G (p.Pro737=)
c.2298A>G (p.Pro766=)
c.2229A>G (p.Pro743=)
c.1761A>G (p.Pro587=)
Xg.41531193T>GCA516099638CASKc.2283A>C (p.Pro761=)
c.2280A>C (p.Pro760=)
c.2334A>C (p.Pro778=)
c.2232A>C (p.Pro744=)
c.2337A>C (p.Pro779=)
c.954A>C (p.Pro318=)
c.2265A>C (p.Pro755=)
c.2196A>C (p.Pro732=)
n.1113A>C
c.106A>C
c.2316A>C (p.Pro772=)
c.2247A>C (p.Pro749=)
c.2319A>C (p.Pro773=)
n.2565A>C
c.2301A>C (p.Pro767=)
c.1656A>C (p.Pro552=)
c.2250A>C (p.Pro750=)
c.2268A>C (p.Pro756=)
c.699A>C (p.Pro233=)
c.1110A>C (p.Pro370=)
c.2211A>C (p.Pro737=)
c.2298A>C (p.Pro766=)
c.2229A>C (p.Pro743=)
c.1761A>C (p.Pro587=)
Xg.41531194G>ACA412990657CASKc.2282C>T (p.Pro761Leu)
c.2279C>T (p.Pro760Leu)
c.2333C>T (p.Pro778Leu)
c.2231C>T (p.Pro744Leu)
c.2336C>T (p.Pro779Leu)
c.953C>T (p.Pro318Leu)
c.2264C>T (p.Pro755Leu)
c.2195C>T (p.Pro732Leu)
n.1112C>T
c.105C>T
c.2315C>T (p.Pro772Leu)
c.2246C>T (p.Pro749Leu)
c.2318C>T (p.Pro773Leu)
n.2564C>T
c.2300C>T (p.Pro767Leu)
c.1655C>T (p.Pro552Leu)
c.2249C>T (p.Pro750Leu)
c.2267C>T (p.Pro756Leu)
c.698C>T (p.Pro233Leu)
c.1109C>T (p.Pro370Leu)
c.2210C>T (p.Pro737Leu)
c.2297C>T (p.Pro766Leu)
c.2228C>T (p.Pro743Leu)
c.1760C>T (p.Pro587Leu)
Xg.41531194G>CCA412990659CASKc.2282C>G (p.Pro761Arg)
c.2279C>G (p.Pro760Arg)
c.2333C>G (p.Pro778Arg)
c.2231C>G (p.Pro744Arg)
c.2336C>G (p.Pro779Arg)
c.953C>G (p.Pro318Arg)
c.2264C>G (p.Pro755Arg)
c.2195C>G (p.Pro732Arg)
n.1112C>G
c.105C>G
c.2315C>G (p.Pro772Arg)
c.2246C>G (p.Pro749Arg)
c.2318C>G (p.Pro773Arg)
n.2564C>G
c.2300C>G (p.Pro767Arg)
c.1655C>G (p.Pro552Arg)
c.2249C>G (p.Pro750Arg)
c.2267C>G (p.Pro756Arg)
c.698C>G (p.Pro233Arg)
c.1109C>G (p.Pro370Arg)
c.2210C>G (p.Pro737Arg)
c.2297C>G (p.Pro766Arg)
c.2228C>G (p.Pro743Arg)
c.1760C>G (p.Pro587Arg)
 COSMIC
Xg.41531194G>TCA412990655CASKc.2282C>A (p.Pro761Gln)
c.2279C>A (p.Pro760Gln)
c.2333C>A (p.Pro778Gln)
c.2231C>A (p.Pro744Gln)
c.2336C>A (p.Pro779Gln)
c.953C>A (p.Pro318Gln)
c.2264C>A (p.Pro755Gln)
c.2195C>A (p.Pro732Gln)
n.1112C>A
c.105C>A
c.2315C>A (p.Pro772Gln)
c.2246C>A (p.Pro749Gln)
c.2318C>A (p.Pro773Gln)
n.2564C>A
c.2300C>A (p.Pro767Gln)
c.1655C>A (p.Pro552Gln)
c.2249C>A (p.Pro750Gln)
c.2267C>A (p.Pro756Gln)
c.698C>A (p.Pro233Gln)
c.1109C>A (p.Pro370Gln)
c.2210C>A (p.Pro737Gln)
c.2297C>A (p.Pro766Gln)
c.2228C>A (p.Pro743Gln)
c.1760C>A (p.Pro587Gln)
Xg.41531195G>ACA412990662CASKc.2281C>T (p.Pro761Ser)
c.2278C>T (p.Pro760Ser)
c.2332C>T (p.Pro778Ser)
c.2230C>T (p.Pro744Ser)
c.2335C>T (p.Pro779Ser)
c.952C>T (p.Pro318Ser)
c.2263C>T (p.Pro755Ser)
c.2194C>T (p.Pro732Ser)
n.1111C>T
c.104C>T
c.2314C>T (p.Pro772Ser)
c.2245C>T (p.Pro749Ser)
c.2317C>T (p.Pro773Ser)
n.2563C>T
c.2299C>T (p.Pro767Ser)
c.1654C>T (p.Pro552Ser)
c.2248C>T (p.Pro750Ser)
c.2266C>T (p.Pro756Ser)
c.697C>T (p.Pro233Ser)
c.1108C>T (p.Pro370Ser)
c.2209C>T (p.Pro737Ser)
c.2296C>T (p.Pro766Ser)
c.2227C>T (p.Pro743Ser)
c.1759C>T (p.Pro587Ser)
Xg.41531195G>CCA412990661CASKc.2281C>G (p.Pro761Ala)
c.2278C>G (p.Pro760Ala)
c.2332C>G (p.Pro778Ala)
c.2230C>G (p.Pro744Ala)
c.2335C>G (p.Pro779Ala)
c.952C>G (p.Pro318Ala)
c.2263C>G (p.Pro755Ala)
c.2194C>G (p.Pro732Ala)
n.1111C>G
c.104C>G
c.2314C>G (p.Pro772Ala)
c.2245C>G (p.Pro749Ala)
c.2317C>G (p.Pro773Ala)
n.2563C>G
c.2299C>G (p.Pro767Ala)
c.1654C>G (p.Pro552Ala)
c.2248C>G (p.Pro750Ala)
c.2266C>G (p.Pro756Ala)
c.697C>G (p.Pro233Ala)
c.1108C>G (p.Pro370Ala)
c.2209C>G (p.Pro737Ala)
c.2296C>G (p.Pro766Ala)
c.2227C>G (p.Pro743Ala)
c.1759C>G (p.Pro587Ala)
Xg.41531195G>TCA412990664CASKc.2281C>A (p.Pro761Thr)
c.2278C>A (p.Pro760Thr)
c.2332C>A (p.Pro778Thr)
c.2230C>A (p.Pro744Thr)
c.2335C>A (p.Pro779Thr)
c.952C>A (p.Pro318Thr)
c.2263C>A (p.Pro755Thr)
c.2194C>A (p.Pro732Thr)
n.1111C>A
c.104C>A
c.2314C>A (p.Pro772Thr)
c.2245C>A (p.Pro749Thr)
c.2317C>A (p.Pro773Thr)
n.2563C>A
c.2299C>A (p.Pro767Thr)
c.1654C>A (p.Pro552Thr)
c.2248C>A (p.Pro750Thr)
c.2266C>A (p.Pro756Thr)
c.697C>A (p.Pro233Thr)
c.1108C>A (p.Pro370Thr)
c.2209C>A (p.Pro737Thr)
c.2296C>A (p.Pro766Thr)
c.2227C>A (p.Pro743Thr)
c.1759C>A (p.Pro587Thr)
Xg.41531196A>CCA516099651CASKc.2280T>G (p.Pro760=)
c.2277T>G (p.Pro759=)
c.2331T>G (p.Pro777=)
c.2229T>G (p.Pro743=)
c.2334T>G (p.Pro778=)
c.951T>G (p.Pro317=)
c.2262T>G (p.Pro754=)
c.2193T>G (p.Pro731=)
n.1110T>G
c.103T>G
c.2313T>G (p.Pro771=)
c.2244T>G (p.Pro748=)
c.2316T>G (p.Pro772=)
n.2562T>G
c.2298T>G (p.Pro766=)
c.1653T>G (p.Pro551=)
c.2247T>G (p.Pro749=)
c.2265T>G (p.Pro755=)
c.696T>G (p.Pro232=)
c.1107T>G (p.Pro369=)
c.2208T>G (p.Pro736=)
c.2295T>G (p.Pro765=)
c.2226T>G (p.Pro742=)
c.1758T>G (p.Pro586=)
Xg.41531196A>GCA516099653CASKc.2280T>C (p.Pro760=)
c.2277T>C (p.Pro759=)
c.2331T>C (p.Pro777=)
c.2229T>C (p.Pro743=)
c.2334T>C (p.Pro778=)
c.951T>C (p.Pro317=)
c.2262T>C (p.Pro754=)
c.2193T>C (p.Pro731=)
n.1110T>C
c.103T>C
c.2313T>C (p.Pro771=)
c.2244T>C (p.Pro748=)
c.2316T>C (p.Pro772=)
n.2562T>C
c.2298T>C (p.Pro766=)
c.1653T>C (p.Pro551=)
c.2247T>C (p.Pro749=)
c.2265T>C (p.Pro755=)
c.696T>C (p.Pro232=)
c.1107T>C (p.Pro369=)
c.2208T>C (p.Pro736=)
c.2295T>C (p.Pro765=)
c.2226T>C (p.Pro742=)
c.1758T>C (p.Pro586=)
Xg.41531196A>TCA516099649CASKc.2280T>A (p.Pro760=)
c.2277T>A (p.Pro759=)
c.2331T>A (p.Pro777=)
c.2229T>A (p.Pro743=)
c.2334T>A (p.Pro778=)
c.951T>A (p.Pro317=)
c.2262T>A (p.Pro754=)
c.2193T>A (p.Pro731=)
n.1110T>A
c.103T>A
c.2313T>A (p.Pro771=)
c.2244T>A (p.Pro748=)
c.2316T>A (p.Pro772=)
n.2562T>A
c.2298T>A (p.Pro766=)
c.1653T>A (p.Pro551=)
c.2247T>A (p.Pro749=)
c.2265T>A (p.Pro755=)
c.696T>A (p.Pro232=)
c.1107T>A (p.Pro369=)
c.2208T>A (p.Pro736=)
c.2295T>A (p.Pro765=)
c.2226T>A (p.Pro742=)
c.1758T>A (p.Pro586=)
Xg.41531197G>ACA412990667CASKc.2279C>T (p.Pro760Leu)
c.2276C>T (p.Pro759Leu)
c.2330C>T (p.Pro777Leu)
c.2228C>T (p.Pro743Leu)
c.2333C>T (p.Pro778Leu)
c.950C>T (p.Pro317Leu)
c.2261C>T (p.Pro754Leu)
c.2192C>T (p.Pro731Leu)
n.1109C>T
c.102C>T
c.2312C>T (p.Pro771Leu)
c.2243C>T (p.Pro748Leu)
c.2315C>T (p.Pro772Leu)
n.2561C>T
c.2297C>T (p.Pro766Leu)
c.1652C>T (p.Pro551Leu)
c.2246C>T (p.Pro749Leu)
c.2264C>T (p.Pro755Leu)
c.695C>T (p.Pro232Leu)
c.1106C>T (p.Pro369Leu)
c.2207C>T (p.Pro736Leu)
c.2294C>T (p.Pro765Leu)
c.2225C>T (p.Pro742Leu)
c.1757C>T (p.Pro586Leu)
Xg.41531197G>CCA10390033CASKc.2279C>G (p.Pro760Arg)
c.2276C>G (p.Pro759Arg)
c.2330C>G (p.Pro777Arg)
c.2228C>G (p.Pro743Arg)
c.2333C>G (p.Pro778Arg)
c.950C>G (p.Pro317Arg)
c.2261C>G (p.Pro754Arg)
c.2192C>G (p.Pro731Arg)
n.1109C>G
c.102C>G
c.2312C>G (p.Pro771Arg)
c.2243C>G (p.Pro748Arg)
c.2315C>G (p.Pro772Arg)
n.2561C>G
c.2297C>G (p.Pro766Arg)
c.1652C>G (p.Pro551Arg)
c.2246C>G (p.Pro749Arg)
c.2264C>G (p.Pro755Arg)
c.695C>G (p.Pro232Arg)
c.1106C>G (p.Pro369Arg)
c.2207C>G (p.Pro736Arg)
c.2294C>G (p.Pro765Arg)
c.2225C>G (p.Pro742Arg)
c.1757C>G (p.Pro586Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531197G=CA2425947720CASKc.2279C= (p.Pro760=)
c.2276C= (p.Pro759=)
c.2330C= (p.Pro777=)
c.2228C= (p.Pro743=)
c.2333C= (p.Pro778=)
c.950C= (p.Pro317=)
c.2261C= (p.Pro754=)
c.2192C= (p.Pro731=)
n.1109C=
c.102C=
c.2312C= (p.Pro771=)
c.2243C= (p.Pro748=)
c.2315C= (p.Pro772=)
n.2561C=
c.2297C= (p.Pro766=)
c.1652C= (p.Pro551=)
c.2246C= (p.Pro749=)
c.2264C= (p.Pro755=)
c.695C= (p.Pro232=)
c.1106C= (p.Pro369=)
c.2207C= (p.Pro736=)
c.2294C= (p.Pro765=)
c.2225C= (p.Pro742=)
c.1757C= (p.Pro586=)
Xg.41531197G>TCA412990670CASKc.2279C>A (p.Pro760His)
c.2276C>A (p.Pro759His)
c.2330C>A (p.Pro777His)
c.2228C>A (p.Pro743His)
c.2333C>A (p.Pro778His)
c.950C>A (p.Pro317His)
c.2261C>A (p.Pro754His)
c.2192C>A (p.Pro731His)
n.1109C>A
c.102C>A
c.2312C>A (p.Pro771His)
c.2243C>A (p.Pro748His)
c.2315C>A (p.Pro772His)
n.2561C>A
c.2297C>A (p.Pro766His)
c.1652C>A (p.Pro551His)
c.2246C>A (p.Pro749His)
c.2264C>A (p.Pro755His)
c.695C>A (p.Pro232His)
c.1106C>A (p.Pro369His)
c.2207C>A (p.Pro736His)
c.2294C>A (p.Pro765His)
c.2225C>A (p.Pro742His)
c.1757C>A (p.Pro586His)
Xg.41531198G>ACA412990672CASKc.2278C>T (p.Pro760Ser)
c.2275C>T (p.Pro759Ser)
c.2329C>T (p.Pro777Ser)
c.2227C>T (p.Pro743Ser)
c.2332C>T (p.Pro778Ser)
c.949C>T (p.Pro317Ser)
c.2260C>T (p.Pro754Ser)
c.2191C>T (p.Pro731Ser)
n.1108C>T
c.101C>T
c.2311C>T (p.Pro771Ser)
c.2242C>T (p.Pro748Ser)
c.2314C>T (p.Pro772Ser)
n.2560C>T
c.2296C>T (p.Pro766Ser)
c.1651C>T (p.Pro551Ser)
c.2245C>T (p.Pro749Ser)
c.2263C>T (p.Pro755Ser)
c.694C>T (p.Pro232Ser)
c.1105C>T (p.Pro369Ser)
c.2206C>T (p.Pro736Ser)
c.2293C>T (p.Pro765Ser)
c.2224C>T (p.Pro742Ser)
c.1756C>T (p.Pro586Ser)
Xg.41531198G>CCA412990673CASKc.2278C>G (p.Pro760Ala)
c.2275C>G (p.Pro759Ala)
c.2329C>G (p.Pro777Ala)
c.2227C>G (p.Pro743Ala)
c.2332C>G (p.Pro778Ala)
c.949C>G (p.Pro317Ala)
c.2260C>G (p.Pro754Ala)
c.2191C>G (p.Pro731Ala)
n.1108C>G
c.101C>G
c.2311C>G (p.Pro771Ala)
c.2242C>G (p.Pro748Ala)
c.2314C>G (p.Pro772Ala)
n.2560C>G
c.2296C>G (p.Pro766Ala)
c.1651C>G (p.Pro551Ala)
c.2245C>G (p.Pro749Ala)
c.2263C>G (p.Pro755Ala)
c.694C>G (p.Pro232Ala)
c.1105C>G (p.Pro369Ala)
c.2206C>G (p.Pro736Ala)
c.2293C>G (p.Pro765Ala)
c.2224C>G (p.Pro742Ala)
c.1756C>G (p.Pro586Ala)
Xg.41531198G>TCA412990675CASKc.2278C>A (p.Pro760Thr)
c.2275C>A (p.Pro759Thr)
c.2329C>A (p.Pro777Thr)
c.2227C>A (p.Pro743Thr)
c.2332C>A (p.Pro778Thr)
c.949C>A (p.Pro317Thr)
c.2260C>A (p.Pro754Thr)
c.2191C>A (p.Pro731Thr)
n.1108C>A
c.101C>A
c.2311C>A (p.Pro771Thr)
c.2242C>A (p.Pro748Thr)
c.2314C>A (p.Pro772Thr)
n.2560C>A
c.2296C>A (p.Pro766Thr)
c.1651C>A (p.Pro551Thr)
c.2245C>A (p.Pro749Thr)
c.2263C>A (p.Pro755Thr)
c.694C>A (p.Pro232Thr)
c.1105C>A (p.Pro369Thr)
c.2206C>A (p.Pro736Thr)
c.2293C>A (p.Pro765Thr)
c.2224C>A (p.Pro742Thr)
c.1756C>A (p.Pro586Thr)
Xg.41531199T>ACA412990676CASKc.2277A>T (p.Arg759Ser)
c.2274A>T (p.Arg758Ser)
c.2328A>T (p.Arg776Ser)
c.2226A>T (p.Arg742Ser)
c.2331A>T (p.Arg777Ser)
c.948A>T (p.Arg316Ser)
c.2259A>T (p.Arg753Ser)
c.2190A>T (p.Arg730Ser)
n.1107A>T
c.100A>T
c.2310A>T (p.Arg770Ser)
c.2241A>T (p.Arg747Ser)
c.2313A>T (p.Arg771Ser)
n.2559A>T
c.2295A>T (p.Arg765Ser)
c.1650A>T (p.Arg550Ser)
c.2244A>T (p.Arg748Ser)
c.2262A>T (p.Arg754Ser)
c.693A>T (p.Arg231Ser)
c.1104A>T (p.Arg368Ser)
c.2205A>T (p.Arg735Ser)
c.2292A>T (p.Arg764Ser)
c.2223A>T (p.Arg741Ser)
c.1755A>T (p.Arg585Ser)
Xg.41531199T>CCA329228203CASKc.2277A>G (p.Arg759=)
c.2274A>G (p.Arg758=)
c.2328A>G (p.Arg776=)
c.2226A>G (p.Arg742=)
c.2331A>G (p.Arg777=)
c.948A>G (p.Arg316=)
c.2259A>G (p.Arg753=)
c.2190A>G (p.Arg730=)
n.1107A>G
c.100A>G
c.2310A>G (p.Arg770=)
c.2241A>G (p.Arg747=)
c.2313A>G (p.Arg771=)
n.2559A>G
c.2295A>G (p.Arg765=)
c.1650A>G (p.Arg550=)
c.2244A>G (p.Arg748=)
c.2262A>G (p.Arg754=)
c.693A>G (p.Arg231=)
c.1104A>G (p.Arg368=)
c.2205A>G (p.Arg735=)
c.2292A>G (p.Arg764=)
c.2223A>G (p.Arg741=)
c.1755A>G (p.Arg585=)
 dbSNP gnomAD v4
Xg.41531199T>GCA412990678CASKc.2277A>C (p.Arg759Ser)
c.2274A>C (p.Arg758Ser)
c.2328A>C (p.Arg776Ser)
c.2226A>C (p.Arg742Ser)
c.2331A>C (p.Arg777Ser)
c.948A>C (p.Arg316Ser)
c.2259A>C (p.Arg753Ser)
c.2190A>C (p.Arg730Ser)
n.1107A>C
c.100A>C
c.2310A>C (p.Arg770Ser)
c.2241A>C (p.Arg747Ser)
c.2313A>C (p.Arg771Ser)
n.2559A>C
c.2295A>C (p.Arg765Ser)
c.1650A>C (p.Arg550Ser)
c.2244A>C (p.Arg748Ser)
c.2262A>C (p.Arg754Ser)
c.693A>C (p.Arg231Ser)
c.1104A>C (p.Arg368Ser)
c.2205A>C (p.Arg735Ser)
c.2292A>C (p.Arg764Ser)
c.2223A>C (p.Arg741Ser)
c.1755A>C (p.Arg585Ser)
Xg.41531199T=CA2425947721CASKc.2277A= (p.Arg759=)
c.2274A= (p.Arg758=)
c.2328A= (p.Arg776=)
c.2226A= (p.Arg742=)
c.2331A= (p.Arg777=)
c.948A= (p.Arg316=)
c.2259A= (p.Arg753=)
c.2190A= (p.Arg730=)
n.1107A=
c.100A=
c.2310A= (p.Arg770=)
c.2241A= (p.Arg747=)
c.2313A= (p.Arg771=)
n.2559A=
c.2295A= (p.Arg765=)
c.1650A= (p.Arg550=)
c.2244A= (p.Arg748=)
c.2262A= (p.Arg754=)
c.693A= (p.Arg231=)
c.1104A= (p.Arg368=)
c.2205A= (p.Arg735=)
c.2292A= (p.Arg764=)
c.2223A= (p.Arg741=)
c.1755A= (p.Arg585=)
Xg.41531200C>ACA412990679CASKc.2276G>T (p.Arg759Ile)
c.2273G>T (p.Arg758Ile)
c.2327G>T (p.Arg776Ile)
c.2225G>T (p.Arg742Ile)
c.2330G>T (p.Arg777Ile)
c.947G>T (p.Arg316Ile)
c.2258G>T (p.Arg753Ile)
c.2189G>T (p.Arg730Ile)
n.1106G>T
c.99G>T
c.2309G>T (p.Arg770Ile)
c.2240G>T (p.Arg747Ile)
c.2312G>T (p.Arg771Ile)
n.2558G>T
c.2294G>T (p.Arg765Ile)
c.1649G>T (p.Arg550Ile)
c.2243G>T (p.Arg748Ile)
c.2261G>T (p.Arg754Ile)
c.692G>T (p.Arg231Ile)
c.1103G>T (p.Arg368Ile)
c.2204G>T (p.Arg735Ile)
c.2291G>T (p.Arg764Ile)
c.2222G>T (p.Arg741Ile)
c.1754G>T (p.Arg585Ile)
Xg.41531200C>GCA412990680CASKc.2276G>C (p.Arg759Thr)
c.2273G>C (p.Arg758Thr)
c.2327G>C (p.Arg776Thr)
c.2225G>C (p.Arg742Thr)
c.2330G>C (p.Arg777Thr)
c.947G>C (p.Arg316Thr)
c.2258G>C (p.Arg753Thr)
c.2189G>C (p.Arg730Thr)
n.1106G>C
c.99G>C
c.2309G>C (p.Arg770Thr)
c.2240G>C (p.Arg747Thr)
c.2312G>C (p.Arg771Thr)
n.2558G>C
c.2294G>C (p.Arg765Thr)
c.1649G>C (p.Arg550Thr)
c.2243G>C (p.Arg748Thr)
c.2261G>C (p.Arg754Thr)
c.692G>C (p.Arg231Thr)
c.1103G>C (p.Arg368Thr)
c.2204G>C (p.Arg735Thr)
c.2291G>C (p.Arg764Thr)
c.2222G>C (p.Arg741Thr)
c.1754G>C (p.Arg585Thr)
Xg.41531200C>TCA412990682CASKc.2276G>A (p.Arg759Lys)
c.2273G>A (p.Arg758Lys)
c.2327G>A (p.Arg776Lys)
c.2225G>A (p.Arg742Lys)
c.2330G>A (p.Arg777Lys)
c.947G>A (p.Arg316Lys)
c.2258G>A (p.Arg753Lys)
c.2189G>A (p.Arg730Lys)
n.1106G>A
c.99G>A
c.2309G>A (p.Arg770Lys)
c.2240G>A (p.Arg747Lys)
c.2312G>A (p.Arg771Lys)
n.2558G>A
c.2294G>A (p.Arg765Lys)
c.1649G>A (p.Arg550Lys)
c.2243G>A (p.Arg748Lys)
c.2261G>A (p.Arg754Lys)
c.692G>A (p.Arg231Lys)
c.1103G>A (p.Arg368Lys)
c.2204G>A (p.Arg735Lys)
c.2291G>A (p.Arg764Lys)
c.2222G>A (p.Arg741Lys)
c.1754G>A (p.Arg585Lys)
Xg.41531201T>ACA412990684CASKc.2275A>T (p.Arg759Ter)
c.2272A>T (p.Arg758Ter)
c.2326A>T (p.Arg776Ter)
c.2224A>T (p.Arg742Ter)
c.2329A>T (p.Arg777Ter)
c.946A>T (p.Arg316Ter)
c.2257A>T (p.Arg753Ter)
c.2188A>T (p.Arg730Ter)
n.1105A>T
c.98A>T
c.2308A>T (p.Arg770Ter)
c.2239A>T (p.Arg747Ter)
c.2311A>T (p.Arg771Ter)
n.2557A>T
c.2293A>T (p.Arg765Ter)
c.1648A>T (p.Arg550Ter)
c.2242A>T (p.Arg748Ter)
c.2260A>T (p.Arg754Ter)
c.691A>T (p.Arg231Ter)
c.1102A>T (p.Arg368Ter)
c.2203A>T (p.Arg735Ter)
c.2290A>T (p.Arg764Ter)
c.2221A>T (p.Arg741Ter)
c.1753A>T (p.Arg585Ter)
Xg.41531201T>CCA412990686CASKc.2275A>G (p.Arg759Gly)
c.2272A>G (p.Arg758Gly)
c.2326A>G (p.Arg776Gly)
c.2224A>G (p.Arg742Gly)
c.2329A>G (p.Arg777Gly)
c.946A>G (p.Arg316Gly)
c.2257A>G (p.Arg753Gly)
c.2188A>G (p.Arg730Gly)
n.1105A>G
c.98A>G
c.2308A>G (p.Arg770Gly)
c.2239A>G (p.Arg747Gly)
c.2311A>G (p.Arg771Gly)
n.2557A>G
c.2293A>G (p.Arg765Gly)
c.1648A>G (p.Arg550Gly)
c.2242A>G (p.Arg748Gly)
c.2260A>G (p.Arg754Gly)
c.691A>G (p.Arg231Gly)
c.1102A>G (p.Arg368Gly)
c.2203A>G (p.Arg735Gly)
c.2290A>G (p.Arg764Gly)
c.2221A>G (p.Arg741Gly)
c.1753A>G (p.Arg585Gly)
Xg.41531201T>GCA516099674CASKc.2275A>C (p.Arg759=)
c.2272A>C (p.Arg758=)
c.2326A>C (p.Arg776=)
c.2224A>C (p.Arg742=)
c.2329A>C (p.Arg777=)
c.946A>C (p.Arg316=)
c.2257A>C (p.Arg753=)
c.2188A>C (p.Arg730=)
n.1105A>C
c.98A>C
c.2308A>C (p.Arg770=)
c.2239A>C (p.Arg747=)
c.2311A>C (p.Arg771=)
n.2557A>C
c.2293A>C (p.Arg765=)
c.1648A>C (p.Arg550=)
c.2242A>C (p.Arg748=)
c.2260A>C (p.Arg754=)
c.691A>C (p.Arg231=)
c.1102A>C (p.Arg368=)
c.2203A>C (p.Arg735=)
c.2290A>C (p.Arg764=)
c.2221A>C (p.Arg741=)
c.1753A>C (p.Arg585=)
Xg.41531202G>ACA205355CASKc.2274C>T (p.Thr758=)
c.2271C>T (p.Thr757=)
c.2325C>T (p.Thr775=)
c.2223C>T (p.Thr741=)
c.2328C>T (p.Thr776=)
c.945C>T (p.Thr315=)
c.2256C>T (p.Thr752=)
c.2187C>T (p.Thr729=)
n.1104C>T
c.97C>T
c.2307C>T (p.Thr769=)
c.2238C>T (p.Thr746=)
c.2310C>T (p.Thr770=)
n.2556C>T
c.2292C>T (p.Thr764=)
c.1647C>T (p.Thr549=)
c.2241C>T (p.Thr747=)
c.2259C>T (p.Thr753=)
c.690C>T (p.Thr230=)
c.1101C>T (p.Thr367=)
c.2202C>T (p.Thr734=)
c.2289C>T (p.Thr763=)
c.2220C>T (p.Thr740=)
c.1752C>T (p.Thr584=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531202G>CCA516099679CASKc.2274C>G (p.Thr758=)
c.2271C>G (p.Thr757=)
c.2325C>G (p.Thr775=)
c.2223C>G (p.Thr741=)
c.2328C>G (p.Thr776=)
c.945C>G (p.Thr315=)
c.2256C>G (p.Thr752=)
c.2187C>G (p.Thr729=)
n.1104C>G
c.97C>G
c.2307C>G (p.Thr769=)
c.2238C>G (p.Thr746=)
c.2310C>G (p.Thr770=)
n.2556C>G
c.2292C>G (p.Thr764=)
c.1647C>G (p.Thr549=)
c.2241C>G (p.Thr747=)
c.2259C>G (p.Thr753=)
c.690C>G (p.Thr230=)
c.1101C>G (p.Thr367=)
c.2202C>G (p.Thr734=)
c.2289C>G (p.Thr763=)
c.2220C>G (p.Thr740=)
c.1752C>G (p.Thr584=)
Xg.41531202G=CA2425947722CASKc.2274C= (p.Thr758=)
c.2271C= (p.Thr757=)
c.2325C= (p.Thr775=)
c.2223C= (p.Thr741=)
c.2328C= (p.Thr776=)
c.945C= (p.Thr315=)
c.2256C= (p.Thr752=)
c.2187C= (p.Thr729=)
n.1104C=
c.97C=
c.2307C= (p.Thr769=)
c.2238C= (p.Thr746=)
c.2310C= (p.Thr770=)
n.2556C=
c.2292C= (p.Thr764=)
c.1647C= (p.Thr549=)
c.2241C= (p.Thr747=)
c.2259C= (p.Thr753=)
c.690C= (p.Thr230=)
c.1101C= (p.Thr367=)
c.2202C= (p.Thr734=)
c.2289C= (p.Thr763=)
c.2220C= (p.Thr740=)
c.1752C= (p.Thr584=)
Xg.41531202G>TCA516099681CASKc.2274C>A (p.Thr758=)
c.2271C>A (p.Thr757=)
c.2325C>A (p.Thr775=)
c.2223C>A (p.Thr741=)
c.2328C>A (p.Thr776=)
c.945C>A (p.Thr315=)
c.2256C>A (p.Thr752=)
c.2187C>A (p.Thr729=)
n.1104C>A
c.97C>A
c.2307C>A (p.Thr769=)
c.2238C>A (p.Thr746=)
c.2310C>A (p.Thr770=)
n.2556C>A
c.2292C>A (p.Thr764=)
c.1647C>A (p.Thr549=)
c.2241C>A (p.Thr747=)
c.2259C>A (p.Thr753=)
c.690C>A (p.Thr230=)
c.1101C>A (p.Thr367=)
c.2202C>A (p.Thr734=)
c.2289C>A (p.Thr763=)
c.2220C>A (p.Thr740=)
c.1752C>A (p.Thr584=)
Xg.41531203G>ACA412990688CASKc.2273C>T (p.Thr758Ile)
c.2270C>T (p.Thr757Ile)
c.2324C>T (p.Thr775Ile)
c.2222C>T (p.Thr741Ile)
c.2327C>T (p.Thr776Ile)
c.944C>T (p.Thr315Ile)
c.2255C>T (p.Thr752Ile)
c.2186C>T (p.Thr729Ile)
n.1103C>T
c.96C>T
c.2306C>T (p.Thr769Ile)
c.2237C>T (p.Thr746Ile)
c.2309C>T (p.Thr770Ile)
n.2555C>T
c.2291C>T (p.Thr764Ile)
c.1646C>T (p.Thr549Ile)
c.2240C>T (p.Thr747Ile)
c.2258C>T (p.Thr753Ile)
c.689C>T (p.Thr230Ile)
c.1100C>T (p.Thr367Ile)
c.2201C>T (p.Thr734Ile)
c.2288C>T (p.Thr763Ile)
c.2219C>T (p.Thr740Ile)
c.1751C>T (p.Thr584Ile)
 gnomAD v4
Xg.41531203G>CCA412990690CASKc.2273C>G (p.Thr758Ser)
c.2270C>G (p.Thr757Ser)
c.2324C>G (p.Thr775Ser)
c.2222C>G (p.Thr741Ser)
c.2327C>G (p.Thr776Ser)
c.944C>G (p.Thr315Ser)
c.2255C>G (p.Thr752Ser)
c.2186C>G (p.Thr729Ser)
n.1103C>G
c.96C>G
c.2306C>G (p.Thr769Ser)
c.2237C>G (p.Thr746Ser)
c.2309C>G (p.Thr770Ser)
n.2555C>G
c.2291C>G (p.Thr764Ser)
c.1646C>G (p.Thr549Ser)
c.2240C>G (p.Thr747Ser)
c.2258C>G (p.Thr753Ser)
c.689C>G (p.Thr230Ser)
c.1100C>G (p.Thr367Ser)
c.2201C>G (p.Thr734Ser)
c.2288C>G (p.Thr763Ser)
c.2219C>G (p.Thr740Ser)
c.1751C>G (p.Thr584Ser)
 ClinVar
Xg.41531203G>TCA412990691CASKc.2273C>A (p.Thr758Asn)
c.2270C>A (p.Thr757Asn)
c.2324C>A (p.Thr775Asn)
c.2222C>A (p.Thr741Asn)
c.2327C>A (p.Thr776Asn)
c.944C>A (p.Thr315Asn)
c.2255C>A (p.Thr752Asn)
c.2186C>A (p.Thr729Asn)
n.1103C>A
c.96C>A
c.2306C>A (p.Thr769Asn)
c.2237C>A (p.Thr746Asn)
c.2309C>A (p.Thr770Asn)
n.2555C>A
c.2291C>A (p.Thr764Asn)
c.1646C>A (p.Thr549Asn)
c.2240C>A (p.Thr747Asn)
c.2258C>A (p.Thr753Asn)
c.689C>A (p.Thr230Asn)
c.1100C>A (p.Thr367Asn)
c.2201C>A (p.Thr734Asn)
c.2288C>A (p.Thr763Asn)
c.2219C>A (p.Thr740Asn)
c.1751C>A (p.Thr584Asn)
 gnomAD v4
Xg.41531204T>ACA412990692CASKc.2272A>T (p.Thr758Ser)
c.2269A>T (p.Thr757Ser)
c.2323A>T (p.Thr775Ser)
c.2221A>T (p.Thr741Ser)
c.2326A>T (p.Thr776Ser)
c.943A>T (p.Thr315Ser)
c.2254A>T (p.Thr752Ser)
c.2185A>T (p.Thr729Ser)
n.1102A>T
c.95A>T
c.2305A>T (p.Thr769Ser)
c.2236A>T (p.Thr746Ser)
c.2308A>T (p.Thr770Ser)
n.2554A>T
c.2290A>T (p.Thr764Ser)
c.1645A>T (p.Thr549Ser)
c.2239A>T (p.Thr747Ser)
c.2257A>T (p.Thr753Ser)
c.688A>T (p.Thr230Ser)
c.1099A>T (p.Thr367Ser)
c.2200A>T (p.Thr734Ser)
c.2287A>T (p.Thr763Ser)
c.2218A>T (p.Thr740Ser)
c.1750A>T (p.Thr584Ser)
Xg.41531204T>CCA412990694CASKc.2272A>G (p.Thr758Ala)
c.2269A>G (p.Thr757Ala)
c.2323A>G (p.Thr775Ala)
c.2221A>G (p.Thr741Ala)
c.2326A>G (p.Thr776Ala)
c.943A>G (p.Thr315Ala)
c.2254A>G (p.Thr752Ala)
c.2185A>G (p.Thr729Ala)
n.1102A>G
c.95A>G
c.2305A>G (p.Thr769Ala)
c.2236A>G (p.Thr746Ala)
c.2308A>G (p.Thr770Ala)
n.2554A>G
c.2290A>G (p.Thr764Ala)
c.1645A>G (p.Thr549Ala)
c.2239A>G (p.Thr747Ala)
c.2257A>G (p.Thr753Ala)
c.688A>G (p.Thr230Ala)
c.1099A>G (p.Thr367Ala)
c.2200A>G (p.Thr734Ala)
c.2287A>G (p.Thr763Ala)
c.2218A>G (p.Thr740Ala)
c.1750A>G (p.Thr584Ala)
Xg.41531204T>GCA412990696CASKc.2272A>C (p.Thr758Pro)
c.2269A>C (p.Thr757Pro)
c.2323A>C (p.Thr775Pro)
c.2221A>C (p.Thr741Pro)
c.2326A>C (p.Thr776Pro)
c.943A>C (p.Thr315Pro)
c.2254A>C (p.Thr752Pro)
c.2185A>C (p.Thr729Pro)
n.1102A>C
c.95A>C
c.2305A>C (p.Thr769Pro)
c.2236A>C (p.Thr746Pro)
c.2308A>C (p.Thr770Pro)
n.2554A>C
c.2290A>C (p.Thr764Pro)
c.1645A>C (p.Thr549Pro)
c.2239A>C (p.Thr747Pro)
c.2257A>C (p.Thr753Pro)
c.688A>C (p.Thr230Pro)
c.1099A>C (p.Thr367Pro)
c.2200A>C (p.Thr734Pro)
c.2287A>C (p.Thr763Pro)
c.2218A>C (p.Thr740Pro)
c.1750A>C (p.Thr584Pro)
Xg.41531205T>ACA516099693CASKc.2271A>T (p.Thr757=)
c.2268A>T (p.Thr756=)
c.2322A>T (p.Thr774=)
c.2220A>T (p.Thr740=)
c.2325A>T (p.Thr775=)
c.942A>T (p.Thr314=)
c.2253A>T (p.Thr751=)
c.2184A>T (p.Thr728=)
n.1101A>T
c.94A>T
c.2304A>T (p.Thr768=)
c.2235A>T (p.Thr745=)
c.2307A>T (p.Thr769=)
n.2553A>T
c.2289A>T (p.Thr763=)
c.1644A>T (p.Thr548=)
c.2238A>T (p.Thr746=)
c.2256A>T (p.Thr752=)
c.687A>T (p.Thr229=)
c.1098A>T (p.Thr366=)
c.2199A>T (p.Thr733=)
c.2286A>T (p.Thr762=)
c.2217A>T (p.Thr739=)
c.1749A>T (p.Thr583=)
Xg.41531205T>CCA516099695CASKc.2271A>G (p.Thr757=)
c.2268A>G (p.Thr756=)
c.2322A>G (p.Thr774=)
c.2220A>G (p.Thr740=)
c.2325A>G (p.Thr775=)
c.942A>G (p.Thr314=)
c.2253A>G (p.Thr751=)
c.2184A>G (p.Thr728=)
n.1101A>G
c.94A>G
c.2304A>G (p.Thr768=)
c.2235A>G (p.Thr745=)
c.2307A>G (p.Thr769=)
n.2553A>G
c.2289A>G (p.Thr763=)
c.1644A>G (p.Thr548=)
c.2238A>G (p.Thr746=)
c.2256A>G (p.Thr752=)
c.687A>G (p.Thr229=)
c.1098A>G (p.Thr366=)
c.2199A>G (p.Thr733=)
c.2286A>G (p.Thr762=)
c.2217A>G (p.Thr739=)
c.1749A>G (p.Thr583=)
Xg.41531205T>GCA516099697CASKc.2271A>C (p.Thr757=)
c.2268A>C (p.Thr756=)
c.2322A>C (p.Thr774=)
c.2220A>C (p.Thr740=)
c.2325A>C (p.Thr775=)
c.942A>C (p.Thr314=)
c.2253A>C (p.Thr751=)
c.2184A>C (p.Thr728=)
n.1101A>C
c.94A>C
c.2304A>C (p.Thr768=)
c.2235A>C (p.Thr745=)
c.2307A>C (p.Thr769=)
n.2553A>C
c.2289A>C (p.Thr763=)
c.1644A>C (p.Thr548=)
c.2238A>C (p.Thr746=)
c.2256A>C (p.Thr752=)
c.687A>C (p.Thr229=)
c.1098A>C (p.Thr366=)
c.2199A>C (p.Thr733=)
c.2286A>C (p.Thr762=)
c.2217A>C (p.Thr739=)
c.1749A>C (p.Thr583=)
Xg.41531206G>ACA412990697CASKc.2270C>T (p.Thr757Ile)
c.2267C>T (p.Thr756Ile)
c.2321C>T (p.Thr774Ile)
c.2219C>T (p.Thr740Ile)
c.2324C>T (p.Thr775Ile)
c.941C>T (p.Thr314Ile)
c.2252C>T (p.Thr751Ile)
c.2183C>T (p.Thr728Ile)
n.1100C>T
c.93C>T
c.2303C>T (p.Thr768Ile)
c.2234C>T (p.Thr745Ile)
c.2306C>T (p.Thr769Ile)
n.2552C>T
c.2288C>T (p.Thr763Ile)
c.1643C>T (p.Thr548Ile)
c.2237C>T (p.Thr746Ile)
c.2255C>T (p.Thr752Ile)
c.686C>T (p.Thr229Ile)
c.1097C>T (p.Thr366Ile)
c.2198C>T (p.Thr733Ile)
c.2285C>T (p.Thr762Ile)
c.2216C>T (p.Thr739Ile)
c.1748C>T (p.Thr583Ile)
Xg.41531206G>CCA412990699CASKc.2270C>G (p.Thr757Arg)
c.2267C>G (p.Thr756Arg)
c.2321C>G (p.Thr774Arg)
c.2219C>G (p.Thr740Arg)
c.2324C>G (p.Thr775Arg)
c.941C>G (p.Thr314Arg)
c.2252C>G (p.Thr751Arg)
c.2183C>G (p.Thr728Arg)
n.1100C>G
c.93C>G
c.2303C>G (p.Thr768Arg)
c.2234C>G (p.Thr745Arg)
c.2306C>G (p.Thr769Arg)
n.2552C>G
c.2288C>G (p.Thr763Arg)
c.1643C>G (p.Thr548Arg)
c.2237C>G (p.Thr746Arg)
c.2255C>G (p.Thr752Arg)
c.686C>G (p.Thr229Arg)
c.1097C>G (p.Thr366Arg)
c.2198C>G (p.Thr733Arg)
c.2285C>G (p.Thr762Arg)
c.2216C>G (p.Thr739Arg)
c.1748C>G (p.Thr583Arg)
Xg.41531206G>TCA412990701CASKc.2270C>A (p.Thr757Lys)
c.2267C>A (p.Thr756Lys)
c.2321C>A (p.Thr774Lys)
c.2219C>A (p.Thr740Lys)
c.2324C>A (p.Thr775Lys)
c.941C>A (p.Thr314Lys)
c.2252C>A (p.Thr751Lys)
c.2183C>A (p.Thr728Lys)
n.1100C>A
c.93C>A
c.2303C>A (p.Thr768Lys)
c.2234C>A (p.Thr745Lys)
c.2306C>A (p.Thr769Lys)
n.2552C>A
c.2288C>A (p.Thr763Lys)
c.1643C>A (p.Thr548Lys)
c.2237C>A (p.Thr746Lys)
c.2255C>A (p.Thr752Lys)
c.686C>A (p.Thr229Lys)
c.1097C>A (p.Thr366Lys)
c.2198C>A (p.Thr733Lys)
c.2285C>A (p.Thr762Lys)
c.2216C>A (p.Thr739Lys)
c.1748C>A (p.Thr583Lys)

Number of alleles fetched