Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41531003T>CCA2695238936CASKc.2469+4A>G (n.2469+4A>G)
c.2466+4A>G (n.2466+4A>G)
c.2520+4A>G (n.2520+4A>G)
c.2418+4A>G (n.2418+4A>G)
c.2523+4A>G (n.2523+4A>G)
c.1140+4A>G (n.1140+4A>G)
c.2451+4A>G (n.2451+4A>G)
c.2382+4A>G (n.2382+4A>G)
n.1299+4A>G
c.292+4A>G
c.2502+4A>G (n.2502+4A>G)
c.2433+4A>G (n.2433+4A>G)
c.2505+4A>G (n.2505+4A>G)
n.2751+4A>G
c.2487+4A>G (n.2487+4A>G)
c.1842+4A>G (n.1842+4A>G)
c.2436+4A>G (n.2436+4A>G)
c.2454+4A>G (n.2454+4A>G)
c.885+4A>G (n.885+4A>G)
c.1296+4A>G (n.1296+4A>G)
c.2397+4A>G (n.2397+4A>G)
c.2484+4A>G (n.2484+4A>G)
c.2415+4A>G (n.2415+4A>G)
c.1947+4A>G (n.1947+4A>G)
Xg.41531004T>CCA2693494115CASKc.2469+3A>G (n.2469+3A>G)
c.2466+3A>G (n.2466+3A>G)
c.2520+3A>G (n.2520+3A>G)
c.2418+3A>G (n.2418+3A>G)
c.2523+3A>G (n.2523+3A>G)
c.1140+3A>G (n.1140+3A>G)
c.2451+3A>G (n.2451+3A>G)
c.2382+3A>G (n.2382+3A>G)
n.1299+3A>G
c.292+3A>G
c.2502+3A>G (n.2502+3A>G)
c.2433+3A>G (n.2433+3A>G)
c.2505+3A>G (n.2505+3A>G)
n.2751+3A>G
c.2487+3A>G (n.2487+3A>G)
c.1842+3A>G (n.1842+3A>G)
c.2436+3A>G (n.2436+3A>G)
c.2454+3A>G (n.2454+3A>G)
c.885+3A>G (n.885+3A>G)
c.1296+3A>G (n.1296+3A>G)
c.2397+3A>G (n.2397+3A>G)
c.2484+3A>G (n.2484+3A>G)
c.2415+3A>G (n.2415+3A>G)
c.1947+3A>G (n.1947+3A>G)
 gnomAD v4
Xg.41531005A>CCA412989893CASKc.2469+2T>G (n.2469+2T>G)
c.2466+2T>G (n.2466+2T>G)
c.2520+2T>G (n.2520+2T>G)
c.2418+2T>G (n.2418+2T>G)
c.2523+2T>G (n.2523+2T>G)
c.1140+2T>G (n.1140+2T>G)
c.2451+2T>G (n.2451+2T>G)
c.2382+2T>G (n.2382+2T>G)
n.1299+2T>G
c.292+2T>G
c.2502+2T>G (n.2502+2T>G)
c.2433+2T>G (n.2433+2T>G)
c.2505+2T>G (n.2505+2T>G)
n.2751+2T>G
c.2487+2T>G (n.2487+2T>G)
c.1842+2T>G (n.1842+2T>G)
c.2436+2T>G (n.2436+2T>G)
c.2454+2T>G (n.2454+2T>G)
c.885+2T>G (n.885+2T>G)
c.1296+2T>G (n.1296+2T>G)
c.2397+2T>G (n.2397+2T>G)
c.2484+2T>G (n.2484+2T>G)
c.2415+2T>G (n.2415+2T>G)
c.1947+2T>G (n.1947+2T>G)
Xg.41531005A>GCA412989895CASKc.2469+2T>C (n.2469+2T>C)
c.2466+2T>C (n.2466+2T>C)
c.2520+2T>C (n.2520+2T>C)
c.2418+2T>C (n.2418+2T>C)
c.2523+2T>C (n.2523+2T>C)
c.1140+2T>C (n.1140+2T>C)
c.2451+2T>C (n.2451+2T>C)
c.2382+2T>C (n.2382+2T>C)
n.1299+2T>C
c.292+2T>C
c.2502+2T>C (n.2502+2T>C)
c.2433+2T>C (n.2433+2T>C)
c.2505+2T>C (n.2505+2T>C)
n.2751+2T>C
c.2487+2T>C (n.2487+2T>C)
c.1842+2T>C (n.1842+2T>C)
c.2436+2T>C (n.2436+2T>C)
c.2454+2T>C (n.2454+2T>C)
c.885+2T>C (n.885+2T>C)
c.1296+2T>C (n.1296+2T>C)
c.2397+2T>C (n.2397+2T>C)
c.2484+2T>C (n.2484+2T>C)
c.2415+2T>C (n.2415+2T>C)
c.1947+2T>C (n.1947+2T>C)
Xg.41531005A>TCA412989896CASKc.2469+2T>A (n.2469+2T>A)
c.2466+2T>A (n.2466+2T>A)
c.2520+2T>A (n.2520+2T>A)
c.2418+2T>A (n.2418+2T>A)
c.2523+2T>A (n.2523+2T>A)
c.1140+2T>A (n.1140+2T>A)
c.2451+2T>A (n.2451+2T>A)
c.2382+2T>A (n.2382+2T>A)
n.1299+2T>A
c.292+2T>A
c.2502+2T>A (n.2502+2T>A)
c.2433+2T>A (n.2433+2T>A)
c.2505+2T>A (n.2505+2T>A)
n.2751+2T>A
c.2487+2T>A (n.2487+2T>A)
c.1842+2T>A (n.1842+2T>A)
c.2436+2T>A (n.2436+2T>A)
c.2454+2T>A (n.2454+2T>A)
c.885+2T>A (n.885+2T>A)
c.1296+2T>A (n.1296+2T>A)
c.2397+2T>A (n.2397+2T>A)
c.2484+2T>A (n.2484+2T>A)
c.2415+2T>A (n.2415+2T>A)
c.1947+2T>A (n.1947+2T>A)
Xg.41531006C>ACA412989898CASKc.2469+1G>T (n.2469+1G>T)
c.2466+1G>T (n.2466+1G>T)
c.2520+1G>T (n.2520+1G>T)
c.2418+1G>T (n.2418+1G>T)
c.2523+1G>T (n.2523+1G>T)
c.1140+1G>T (n.1140+1G>T)
c.2451+1G>T (n.2451+1G>T)
c.2382+1G>T (n.2382+1G>T)
n.1299+1G>T
c.292+1G>T
c.2502+1G>T (n.2502+1G>T)
c.2433+1G>T (n.2433+1G>T)
c.2505+1G>T (n.2505+1G>T)
n.2751+1G>T
c.2487+1G>T (n.2487+1G>T)
c.1842+1G>T (n.1842+1G>T)
c.2436+1G>T (n.2436+1G>T)
c.2454+1G>T (n.2454+1G>T)
c.885+1G>T (n.885+1G>T)
c.1296+1G>T (n.1296+1G>T)
c.2397+1G>T (n.2397+1G>T)
c.2484+1G>T (n.2484+1G>T)
c.2415+1G>T (n.2415+1G>T)
c.1947+1G>T (n.1947+1G>T)
Xg.41531006C>GCA412989900CASKc.2469+1G>C (n.2469+1G>C)
c.2466+1G>C (n.2466+1G>C)
c.2520+1G>C (n.2520+1G>C)
c.2418+1G>C (n.2418+1G>C)
c.2523+1G>C (n.2523+1G>C)
c.1140+1G>C (n.1140+1G>C)
c.2451+1G>C (n.2451+1G>C)
c.2382+1G>C (n.2382+1G>C)
n.1299+1G>C
c.292+1G>C
c.2502+1G>C (n.2502+1G>C)
c.2433+1G>C (n.2433+1G>C)
c.2505+1G>C (n.2505+1G>C)
n.2751+1G>C
c.2487+1G>C (n.2487+1G>C)
c.1842+1G>C (n.1842+1G>C)
c.2436+1G>C (n.2436+1G>C)
c.2454+1G>C (n.2454+1G>C)
c.885+1G>C (n.885+1G>C)
c.1296+1G>C (n.1296+1G>C)
c.2397+1G>C (n.2397+1G>C)
c.2484+1G>C (n.2484+1G>C)
c.2415+1G>C (n.2415+1G>C)
c.1947+1G>C (n.1947+1G>C)
Xg.41531006C>TCA412989901CASKc.2469+1G>A (n.2469+1G>A)
c.2466+1G>A (n.2466+1G>A)
c.2520+1G>A (n.2520+1G>A)
c.2418+1G>A (n.2418+1G>A)
c.2523+1G>A (n.2523+1G>A)
c.1140+1G>A (n.1140+1G>A)
c.2451+1G>A (n.2451+1G>A)
c.2382+1G>A (n.2382+1G>A)
n.1299+1G>A
c.292+1G>A
c.2502+1G>A (n.2502+1G>A)
c.2433+1G>A (n.2433+1G>A)
c.2505+1G>A (n.2505+1G>A)
n.2751+1G>A
c.2487+1G>A (n.2487+1G>A)
c.1842+1G>A (n.1842+1G>A)
c.2436+1G>A (n.2436+1G>A)
c.2454+1G>A (n.2454+1G>A)
c.885+1G>A (n.885+1G>A)
c.1296+1G>A (n.1296+1G>A)
c.2397+1G>A (n.2397+1G>A)
c.2484+1G>A (n.2484+1G>A)
c.2415+1G>A (n.2415+1G>A)
c.1947+1G>A (n.1947+1G>A)
Xg.41531007C>ACA412989903CASKc.2469G>T (p.Gln823His)
c.2466G>T (p.Gln822His)
c.2520G>T (p.Gln840His)
c.2418G>T (p.Gln806His)
c.2523G>T (p.Gln841His)
c.1140G>T (p.Gln380His)
c.2451G>T (p.Gln817His)
c.2382G>T (p.Gln794His)
n.1299G>T
c.292G>T
c.2502G>T (p.Gln834His)
c.2433G>T (p.Gln811His)
c.2505G>T (p.Gln835His)
n.2751G>T
c.2487G>T (p.Gln829His)
c.1842G>T (p.Gln614His)
c.2436G>T (p.Gln812His)
c.2454G>T (p.Gln818His)
c.885G>T (p.Gln295His)
c.1296G>T (p.Gln432His)
c.2397G>T (p.Gln799His)
c.2484G>T (p.Gln828His)
c.2415G>T (p.Gln805His)
c.1947G>T (p.Gln649His)
Xg.41531007C>GCA412989904CASKc.2469G>C (p.Gln823His)
c.2466G>C (p.Gln822His)
c.2520G>C (p.Gln840His)
c.2418G>C (p.Gln806His)
c.2523G>C (p.Gln841His)
c.1140G>C (p.Gln380His)
c.2451G>C (p.Gln817His)
c.2382G>C (p.Gln794His)
n.1299G>C
c.292G>C
c.2502G>C (p.Gln834His)
c.2433G>C (p.Gln811His)
c.2505G>C (p.Gln835His)
n.2751G>C
c.2487G>C (p.Gln829His)
c.1842G>C (p.Gln614His)
c.2436G>C (p.Gln812His)
c.2454G>C (p.Gln818His)
c.885G>C (p.Gln295His)
c.1296G>C (p.Gln432His)
c.2397G>C (p.Gln799His)
c.2484G>C (p.Gln828His)
c.2415G>C (p.Gln805His)
c.1947G>C (p.Gln649His)
Xg.41531007C>TCA516099043CASKc.2469G>A (p.Gln823=)
c.2466G>A (p.Gln822=)
c.2520G>A (p.Gln840=)
c.2418G>A (p.Gln806=)
c.2523G>A (p.Gln841=)
c.1140G>A (p.Gln380=)
c.2451G>A (p.Gln817=)
c.2382G>A (p.Gln794=)
n.1299G>A
c.292G>A
c.2502G>A (p.Gln834=)
c.2433G>A (p.Gln811=)
c.2505G>A (p.Gln835=)
n.2751G>A
c.2487G>A (p.Gln829=)
c.1842G>A (p.Gln614=)
c.2436G>A (p.Gln812=)
c.2454G>A (p.Gln818=)
c.885G>A (p.Gln295=)
c.1296G>A (p.Gln432=)
c.2397G>A (p.Gln799=)
c.2484G>A (p.Gln828=)
c.2415G>A (p.Gln805=)
c.1947G>A (p.Gln649=)
Xg.41531008T>ACA412989908CASKc.2468A>T (p.Gln823Leu)
c.2465A>T (p.Gln822Leu)
c.2519A>T (p.Gln840Leu)
c.2417A>T (p.Gln806Leu)
c.2522A>T (p.Gln841Leu)
c.1139A>T (p.Gln380Leu)
c.2450A>T (p.Gln817Leu)
c.2381A>T (p.Gln794Leu)
n.1298A>T
c.291A>T
c.2501A>T (p.Gln834Leu)
c.2432A>T (p.Gln811Leu)
c.2504A>T (p.Gln835Leu)
n.2750A>T
c.2486A>T (p.Gln829Leu)
c.1841A>T (p.Gln614Leu)
c.2435A>T (p.Gln812Leu)
c.2453A>T (p.Gln818Leu)
c.884A>T (p.Gln295Leu)
c.1295A>T (p.Gln432Leu)
c.2396A>T (p.Gln799Leu)
c.2483A>T (p.Gln828Leu)
c.2414A>T (p.Gln805Leu)
c.1946A>T (p.Gln649Leu)
Xg.41531008T>CCA412989906CASKc.2468A>G (p.Gln823Arg)
c.2465A>G (p.Gln822Arg)
c.2519A>G (p.Gln840Arg)
c.2417A>G (p.Gln806Arg)
c.2522A>G (p.Gln841Arg)
c.1139A>G (p.Gln380Arg)
c.2450A>G (p.Gln817Arg)
c.2381A>G (p.Gln794Arg)
n.1298A>G
c.291A>G
c.2501A>G (p.Gln834Arg)
c.2432A>G (p.Gln811Arg)
c.2504A>G (p.Gln835Arg)
n.2750A>G
c.2486A>G (p.Gln829Arg)
c.1841A>G (p.Gln614Arg)
c.2435A>G (p.Gln812Arg)
c.2453A>G (p.Gln818Arg)
c.884A>G (p.Gln295Arg)
c.1295A>G (p.Gln432Arg)
c.2396A>G (p.Gln799Arg)
c.2483A>G (p.Gln828Arg)
c.2414A>G (p.Gln805Arg)
c.1946A>G (p.Gln649Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531008T>GCA412989907CASKc.2468A>C (p.Gln823Pro)
c.2465A>C (p.Gln822Pro)
c.2519A>C (p.Gln840Pro)
c.2417A>C (p.Gln806Pro)
c.2522A>C (p.Gln841Pro)
c.1139A>C (p.Gln380Pro)
c.2450A>C (p.Gln817Pro)
c.2381A>C (p.Gln794Pro)
n.1298A>C
c.291A>C
c.2501A>C (p.Gln834Pro)
c.2432A>C (p.Gln811Pro)
c.2504A>C (p.Gln835Pro)
n.2750A>C
c.2486A>C (p.Gln829Pro)
c.1841A>C (p.Gln614Pro)
c.2435A>C (p.Gln812Pro)
c.2453A>C (p.Gln818Pro)
c.884A>C (p.Gln295Pro)
c.1295A>C (p.Gln432Pro)
c.2396A>C (p.Gln799Pro)
c.2483A>C (p.Gln828Pro)
c.2414A>C (p.Gln805Pro)
c.1946A>C (p.Gln649Pro)
Xg.41531008T=CA2425947663CASKc.2468A= (p.Gln823=)
c.2465A= (p.Gln822=)
c.2519A= (p.Gln840=)
c.2417A= (p.Gln806=)
c.2522A= (p.Gln841=)
c.1139A= (p.Gln380=)
c.2450A= (p.Gln817=)
c.2381A= (p.Gln794=)
n.1298A=
c.291A=
c.2501A= (p.Gln834=)
c.2432A= (p.Gln811=)
c.2504A= (p.Gln835=)
n.2750A=
c.2486A= (p.Gln829=)
c.1841A= (p.Gln614=)
c.2435A= (p.Gln812=)
c.2453A= (p.Gln818=)
c.884A= (p.Gln295=)
c.1295A= (p.Gln432=)
c.2396A= (p.Gln799=)
c.2483A= (p.Gln828=)
c.2414A= (p.Gln805=)
c.1946A= (p.Gln649=)
Xg.41531009G>ACA412989910CASKc.2467C>T (p.Gln823Ter)
c.2464C>T (p.Gln822Ter)
c.2518C>T (p.Gln840Ter)
c.2416C>T (p.Gln806Ter)
c.2521C>T (p.Gln841Ter)
c.1138C>T (p.Gln380Ter)
c.2449C>T (p.Gln817Ter)
c.2380C>T (p.Gln794Ter)
n.1297C>T
c.290C>T
c.2500C>T (p.Gln834Ter)
c.2431C>T (p.Gln811Ter)
c.2503C>T (p.Gln835Ter)
n.2749C>T
c.2485C>T (p.Gln829Ter)
c.1840C>T (p.Gln614Ter)
c.2434C>T (p.Gln812Ter)
c.2452C>T (p.Gln818Ter)
c.883C>T (p.Gln295Ter)
c.1294C>T (p.Gln432Ter)
c.2395C>T (p.Gln799Ter)
c.2482C>T (p.Gln828Ter)
c.2413C>T (p.Gln805Ter)
c.1945C>T (p.Gln649Ter)
Xg.41531009G>CCA412989912CASKc.2467C>G (p.Gln823Glu)
c.2464C>G (p.Gln822Glu)
c.2518C>G (p.Gln840Glu)
c.2416C>G (p.Gln806Glu)
c.2521C>G (p.Gln841Glu)
c.1138C>G (p.Gln380Glu)
c.2449C>G (p.Gln817Glu)
c.2380C>G (p.Gln794Glu)
n.1297C>G
c.290C>G
c.2500C>G (p.Gln834Glu)
c.2431C>G (p.Gln811Glu)
c.2503C>G (p.Gln835Glu)
n.2749C>G
c.2485C>G (p.Gln829Glu)
c.1840C>G (p.Gln614Glu)
c.2434C>G (p.Gln812Glu)
c.2452C>G (p.Gln818Glu)
c.883C>G (p.Gln295Glu)
c.1294C>G (p.Gln432Glu)
c.2395C>G (p.Gln799Glu)
c.2482C>G (p.Gln828Glu)
c.2413C>G (p.Gln805Glu)
c.1945C>G (p.Gln649Glu)
Xg.41531009G>TCA412989913CASKc.2467C>A (p.Gln823Lys)
c.2464C>A (p.Gln822Lys)
c.2518C>A (p.Gln840Lys)
c.2416C>A (p.Gln806Lys)
c.2521C>A (p.Gln841Lys)
c.1138C>A (p.Gln380Lys)
c.2449C>A (p.Gln817Lys)
c.2380C>A (p.Gln794Lys)
n.1297C>A
c.290C>A
c.2500C>A (p.Gln834Lys)
c.2431C>A (p.Gln811Lys)
c.2503C>A (p.Gln835Lys)
n.2749C>A
c.2485C>A (p.Gln829Lys)
c.1840C>A (p.Gln614Lys)
c.2434C>A (p.Gln812Lys)
c.2452C>A (p.Gln818Lys)
c.883C>A (p.Gln295Lys)
c.1294C>A (p.Gln432Lys)
c.2395C>A (p.Gln799Lys)
c.2482C>A (p.Gln828Lys)
c.2413C>A (p.Gln805Lys)
c.1945C>A (p.Gln649Lys)
Xg.41531010delCA2579588848CASKc.2466del (p.Gln823ArgfsTer3)
c.2463del (p.Gln822ArgfsTer3)
c.2517del (p.Gln840ArgfsTer3)
c.2415del (p.Gln806ArgfsTer3)
c.2520del (p.Gln841ArgfsTer3)
c.1137del (p.Gln380ArgfsTer3)
c.2448del (p.Gln817ArgfsTer3)
c.2379del (p.Gln794ArgfsTer3)
n.1296del
c.289del
c.2499del (p.Gln834ArgfsTer3)
c.2430del (p.Gln811ArgfsTer3)
c.2502del (p.Gln835ArgfsTer3)
n.2748del
c.2484del (p.Gln829ArgfsTer12)
c.1839del (p.Gln614ArgfsTer3)
c.2433del (p.Gln812ArgfsTer3)
c.2451del (p.Gln818ArgfsTer3)
c.882del (p.Gln295ArgfsTer3)
c.1293del (p.Gln432ArgfsTer3)
c.2394del (p.Gln799ArgfsTer3)
c.2481del (p.Gln828ArgfsTer3)
c.2412del (p.Gln805ArgfsTer3)
c.1944del (p.Gln649ArgfsTer3)
Xg.41531010A>CCA516099044CASKc.2466T>G (p.Pro822=)
c.2463T>G (p.Pro821=)
c.2517T>G (p.Pro839=)
c.2415T>G (p.Pro805=)
c.2520T>G (p.Pro840=)
c.1137T>G (p.Pro379=)
c.2448T>G (p.Pro816=)
c.2379T>G (p.Pro793=)
n.1296T>G
c.289T>G
c.2499T>G (p.Pro833=)
c.2430T>G (p.Pro810=)
c.2502T>G (p.Pro834=)
n.2748T>G
c.2484T>G (p.Pro828=)
c.1839T>G (p.Pro613=)
c.2433T>G (p.Pro811=)
c.2451T>G (p.Pro817=)
c.882T>G (p.Pro294=)
c.1293T>G (p.Pro431=)
c.2394T>G (p.Pro798=)
c.2481T>G (p.Pro827=)
c.2412T>G (p.Pro804=)
c.1944T>G (p.Pro648=)
Xg.41531010A>GCA516099045CASKc.2466T>C (p.Pro822=)
c.2463T>C (p.Pro821=)
c.2517T>C (p.Pro839=)
c.2415T>C (p.Pro805=)
c.2520T>C (p.Pro840=)
c.1137T>C (p.Pro379=)
c.2448T>C (p.Pro816=)
c.2379T>C (p.Pro793=)
n.1296T>C
c.289T>C
c.2499T>C (p.Pro833=)
c.2430T>C (p.Pro810=)
c.2502T>C (p.Pro834=)
n.2748T>C
c.2484T>C (p.Pro828=)
c.1839T>C (p.Pro613=)
c.2433T>C (p.Pro811=)
c.2451T>C (p.Pro817=)
c.882T>C (p.Pro294=)
c.1293T>C (p.Pro431=)
c.2394T>C (p.Pro798=)
c.2481T>C (p.Pro827=)
c.2412T>C (p.Pro804=)
c.1944T>C (p.Pro648=)
Xg.41531010A>TCA516099046CASKc.2466T>A (p.Pro822=)
c.2463T>A (p.Pro821=)
c.2517T>A (p.Pro839=)
c.2415T>A (p.Pro805=)
c.2520T>A (p.Pro840=)
c.1137T>A (p.Pro379=)
c.2448T>A (p.Pro816=)
c.2379T>A (p.Pro793=)
n.1296T>A
c.289T>A
c.2499T>A (p.Pro833=)
c.2430T>A (p.Pro810=)
c.2502T>A (p.Pro834=)
n.2748T>A
c.2484T>A (p.Pro828=)
c.1839T>A (p.Pro613=)
c.2433T>A (p.Pro811=)
c.2451T>A (p.Pro817=)
c.882T>A (p.Pro294=)
c.1293T>A (p.Pro431=)
c.2394T>A (p.Pro798=)
c.2481T>A (p.Pro827=)
c.2412T>A (p.Pro804=)
c.1944T>A (p.Pro648=)
Xg.41531011G>ACA412989915CASKc.2465C>T (p.Pro822Leu)
c.2462C>T (p.Pro821Leu)
c.2516C>T (p.Pro839Leu)
c.2414C>T (p.Pro805Leu)
c.2519C>T (p.Pro840Leu)
c.1136C>T (p.Pro379Leu)
c.2447C>T (p.Pro816Leu)
c.2378C>T (p.Pro793Leu)
n.1295C>T
c.288C>T
c.2498C>T (p.Pro833Leu)
c.2429C>T (p.Pro810Leu)
c.2501C>T (p.Pro834Leu)
n.2747C>T
c.2483C>T (p.Pro828Leu)
c.1838C>T (p.Pro613Leu)
c.2432C>T (p.Pro811Leu)
c.2450C>T (p.Pro817Leu)
c.881C>T (p.Pro294Leu)
c.1292C>T (p.Pro431Leu)
c.2393C>T (p.Pro798Leu)
c.2480C>T (p.Pro827Leu)
c.2411C>T (p.Pro804Leu)
c.1943C>T (p.Pro648Leu)
Xg.41531011G>CCA412989916CASKc.2465C>G (p.Pro822Arg)
c.2462C>G (p.Pro821Arg)
c.2516C>G (p.Pro839Arg)
c.2414C>G (p.Pro805Arg)
c.2519C>G (p.Pro840Arg)
c.1136C>G (p.Pro379Arg)
c.2447C>G (p.Pro816Arg)
c.2378C>G (p.Pro793Arg)
n.1295C>G
c.288C>G
c.2498C>G (p.Pro833Arg)
c.2429C>G (p.Pro810Arg)
c.2501C>G (p.Pro834Arg)
n.2747C>G
c.2483C>G (p.Pro828Arg)
c.1838C>G (p.Pro613Arg)
c.2432C>G (p.Pro811Arg)
c.2450C>G (p.Pro817Arg)
c.881C>G (p.Pro294Arg)
c.1292C>G (p.Pro431Arg)
c.2393C>G (p.Pro798Arg)
c.2480C>G (p.Pro827Arg)
c.2411C>G (p.Pro804Arg)
c.1943C>G (p.Pro648Arg)
Xg.41531011G>TCA412989918CASKc.2465C>A (p.Pro822His)
c.2462C>A (p.Pro821His)
c.2516C>A (p.Pro839His)
c.2414C>A (p.Pro805His)
c.2519C>A (p.Pro840His)
c.1136C>A (p.Pro379His)
c.2447C>A (p.Pro816His)
c.2378C>A (p.Pro793His)
n.1295C>A
c.288C>A
c.2498C>A (p.Pro833His)
c.2429C>A (p.Pro810His)
c.2501C>A (p.Pro834His)
n.2747C>A
c.2483C>A (p.Pro828His)
c.1838C>A (p.Pro613His)
c.2432C>A (p.Pro811His)
c.2450C>A (p.Pro817His)
c.881C>A (p.Pro294His)
c.1292C>A (p.Pro431His)
c.2393C>A (p.Pro798His)
c.2480C>A (p.Pro827His)
c.2411C>A (p.Pro804His)
c.1943C>A (p.Pro648His)
Xg.41531012G>ACA10390012CASKc.2464C>T (p.Pro822Ser)
c.2461C>T (p.Pro821Ser)
c.2515C>T (p.Pro839Ser)
c.2413C>T (p.Pro805Ser)
c.2518C>T (p.Pro840Ser)
c.1135C>T (p.Pro379Ser)
c.2446C>T (p.Pro816Ser)
c.2377C>T (p.Pro793Ser)
n.1294C>T
c.287C>T
c.2497C>T (p.Pro833Ser)
c.2428C>T (p.Pro810Ser)
c.2500C>T (p.Pro834Ser)
n.2746C>T
c.2482C>T (p.Pro828Ser)
c.1837C>T (p.Pro613Ser)
c.2431C>T (p.Pro811Ser)
c.2449C>T (p.Pro817Ser)
c.880C>T (p.Pro294Ser)
c.1291C>T (p.Pro431Ser)
c.2392C>T (p.Pro798Ser)
c.2479C>T (p.Pro827Ser)
c.2410C>T (p.Pro804Ser)
c.1942C>T (p.Pro648Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531012G>CCA412989921CASKc.2464C>G (p.Pro822Ala)
c.2461C>G (p.Pro821Ala)
c.2515C>G (p.Pro839Ala)
c.2413C>G (p.Pro805Ala)
c.2518C>G (p.Pro840Ala)
c.1135C>G (p.Pro379Ala)
c.2446C>G (p.Pro816Ala)
c.2377C>G (p.Pro793Ala)
n.1294C>G
c.287C>G
c.2497C>G (p.Pro833Ala)
c.2428C>G (p.Pro810Ala)
c.2500C>G (p.Pro834Ala)
n.2746C>G
c.2482C>G (p.Pro828Ala)
c.1837C>G (p.Pro613Ala)
c.2431C>G (p.Pro811Ala)
c.2449C>G (p.Pro817Ala)
c.880C>G (p.Pro294Ala)
c.1291C>G (p.Pro431Ala)
c.2392C>G (p.Pro798Ala)
c.2479C>G (p.Pro827Ala)
c.2410C>G (p.Pro804Ala)
c.1942C>G (p.Pro648Ala)
Xg.41531012G=CA2425947664CASKc.2464C= (p.Pro822=)
c.2461C= (p.Pro821=)
c.2515C= (p.Pro839=)
c.2413C= (p.Pro805=)
c.2518C= (p.Pro840=)
c.1135C= (p.Pro379=)
c.2446C= (p.Pro816=)
c.2377C= (p.Pro793=)
n.1294C=
c.287C=
c.2497C= (p.Pro833=)
c.2428C= (p.Pro810=)
c.2500C= (p.Pro834=)
n.2746C=
c.2482C= (p.Pro828=)
c.1837C= (p.Pro613=)
c.2431C= (p.Pro811=)
c.2449C= (p.Pro817=)
c.880C= (p.Pro294=)
c.1291C= (p.Pro431=)
c.2392C= (p.Pro798=)
c.2479C= (p.Pro827=)
c.2410C= (p.Pro804=)
c.1942C= (p.Pro648=)
Xg.41531012G>TCA412989922CASKc.2464C>A (p.Pro822Thr)
c.2461C>A (p.Pro821Thr)
c.2515C>A (p.Pro839Thr)
c.2413C>A (p.Pro805Thr)
c.2518C>A (p.Pro840Thr)
c.1135C>A (p.Pro379Thr)
c.2446C>A (p.Pro816Thr)
c.2377C>A (p.Pro793Thr)
n.1294C>A
c.287C>A
c.2497C>A (p.Pro833Thr)
c.2428C>A (p.Pro810Thr)
c.2500C>A (p.Pro834Thr)
n.2746C>A
c.2482C>A (p.Pro828Thr)
c.1837C>A (p.Pro613Thr)
c.2431C>A (p.Pro811Thr)
c.2449C>A (p.Pro817Thr)
c.880C>A (p.Pro294Thr)
c.1291C>A (p.Pro431Thr)
c.2392C>A (p.Pro798Thr)
c.2479C>A (p.Pro827Thr)
c.2410C>A (p.Pro804Thr)
c.1942C>A (p.Pro648Thr)
 gnomAD v4
Xg.41531013C>ACA412989923CASKc.2463G>T (p.Glu821Asp)
c.2460G>T (p.Glu820Asp)
c.2514G>T (p.Glu838Asp)
c.2412G>T (p.Glu804Asp)
c.2517G>T (p.Glu839Asp)
c.1134G>T (p.Glu378Asp)
c.2445G>T (p.Glu815Asp)
c.2376G>T (p.Glu792Asp)
n.1293G>T
c.286G>T
c.2496G>T (p.Glu832Asp)
c.2427G>T (p.Glu809Asp)
c.2499G>T (p.Glu833Asp)
n.2745G>T
c.2481G>T (p.Glu827Asp)
c.1836G>T (p.Glu612Asp)
c.2430G>T (p.Glu810Asp)
c.2448G>T (p.Glu816Asp)
c.879G>T (p.Glu293Asp)
c.1290G>T (p.Glu430Asp)
c.2391G>T (p.Glu797Asp)
c.2478G>T (p.Glu826Asp)
c.2409G>T (p.Glu803Asp)
c.1941G>T (p.Glu647Asp)
Xg.41531013C>GCA412989924CASKc.2463G>C (p.Glu821Asp)
c.2460G>C (p.Glu820Asp)
c.2514G>C (p.Glu838Asp)
c.2412G>C (p.Glu804Asp)
c.2517G>C (p.Glu839Asp)
c.1134G>C (p.Glu378Asp)
c.2445G>C (p.Glu815Asp)
c.2376G>C (p.Glu792Asp)
n.1293G>C
c.286G>C
c.2496G>C (p.Glu832Asp)
c.2427G>C (p.Glu809Asp)
c.2499G>C (p.Glu833Asp)
n.2745G>C
c.2481G>C (p.Glu827Asp)
c.1836G>C (p.Glu612Asp)
c.2430G>C (p.Glu810Asp)
c.2448G>C (p.Glu816Asp)
c.879G>C (p.Glu293Asp)
c.1290G>C (p.Glu430Asp)
c.2391G>C (p.Glu797Asp)
c.2478G>C (p.Glu826Asp)
c.2409G>C (p.Glu803Asp)
c.1941G>C (p.Glu647Asp)
Xg.41531013C>TCA516099047CASKc.2463G>A (p.Glu821=)
c.2460G>A (p.Glu820=)
c.2514G>A (p.Glu838=)
c.2412G>A (p.Glu804=)
c.2517G>A (p.Glu839=)
c.1134G>A (p.Glu378=)
c.2445G>A (p.Glu815=)
c.2376G>A (p.Glu792=)
n.1293G>A
c.286G>A
c.2496G>A (p.Glu832=)
c.2427G>A (p.Glu809=)
c.2499G>A (p.Glu833=)
n.2745G>A
c.2481G>A (p.Glu827=)
c.1836G>A (p.Glu612=)
c.2430G>A (p.Glu810=)
c.2448G>A (p.Glu816=)
c.879G>A (p.Glu293=)
c.1290G>A (p.Glu430=)
c.2391G>A (p.Glu797=)
c.2478G>A (p.Glu826=)
c.2409G>A (p.Glu803=)
c.1941G>A (p.Glu647=)
Xg.41531014T>ACA412989930CASKc.2462A>T (p.Glu821Val)
c.2459A>T (p.Glu820Val)
c.2513A>T (p.Glu838Val)
c.2411A>T (p.Glu804Val)
c.2516A>T (p.Glu839Val)
c.1133A>T (p.Glu378Val)
c.2444A>T (p.Glu815Val)
c.2375A>T (p.Glu792Val)
n.1292A>T
c.285A>T
c.2495A>T (p.Glu832Val)
c.2426A>T (p.Glu809Val)
c.2498A>T (p.Glu833Val)
n.2744A>T
c.2480A>T (p.Glu827Val)
c.1835A>T (p.Glu612Val)
c.2429A>T (p.Glu810Val)
c.2447A>T (p.Glu816Val)
c.878A>T (p.Glu293Val)
c.1289A>T (p.Glu430Val)
c.2390A>T (p.Glu797Val)
c.2477A>T (p.Glu826Val)
c.2408A>T (p.Glu803Val)
c.1940A>T (p.Glu647Val)
Xg.41531014T>CCA412989928CASKc.2462A>G (p.Glu821Gly)
c.2459A>G (p.Glu820Gly)
c.2513A>G (p.Glu838Gly)
c.2411A>G (p.Glu804Gly)
c.2516A>G (p.Glu839Gly)
c.1133A>G (p.Glu378Gly)
c.2444A>G (p.Glu815Gly)
c.2375A>G (p.Glu792Gly)
n.1292A>G
c.285A>G
c.2495A>G (p.Glu832Gly)
c.2426A>G (p.Glu809Gly)
c.2498A>G (p.Glu833Gly)
n.2744A>G
c.2480A>G (p.Glu827Gly)
c.1835A>G (p.Glu612Gly)
c.2429A>G (p.Glu810Gly)
c.2447A>G (p.Glu816Gly)
c.878A>G (p.Glu293Gly)
c.1289A>G (p.Glu430Gly)
c.2390A>G (p.Glu797Gly)
c.2477A>G (p.Glu826Gly)
c.2408A>G (p.Glu803Gly)
c.1940A>G (p.Glu647Gly)
Xg.41531014T>GCA412989926CASKc.2462A>C (p.Glu821Ala)
c.2459A>C (p.Glu820Ala)
c.2513A>C (p.Glu838Ala)
c.2411A>C (p.Glu804Ala)
c.2516A>C (p.Glu839Ala)
c.1133A>C (p.Glu378Ala)
c.2444A>C (p.Glu815Ala)
c.2375A>C (p.Glu792Ala)
n.1292A>C
c.285A>C
c.2495A>C (p.Glu832Ala)
c.2426A>C (p.Glu809Ala)
c.2498A>C (p.Glu833Ala)
n.2744A>C
c.2480A>C (p.Glu827Ala)
c.1835A>C (p.Glu612Ala)
c.2429A>C (p.Glu810Ala)
c.2447A>C (p.Glu816Ala)
c.878A>C (p.Glu293Ala)
c.1289A>C (p.Glu430Ala)
c.2390A>C (p.Glu797Ala)
c.2477A>C (p.Glu826Ala)
c.2408A>C (p.Glu803Ala)
c.1940A>C (p.Glu647Ala)
Xg.41531015C>ACA412989931CASKc.2461G>T (p.Glu821Ter)
c.2458G>T (p.Glu820Ter)
c.2512G>T (p.Glu838Ter)
c.2410G>T (p.Glu804Ter)
c.2515G>T (p.Glu839Ter)
c.1132G>T (p.Glu378Ter)
c.2443G>T (p.Glu815Ter)
c.2374G>T (p.Glu792Ter)
n.1291G>T
c.284G>T
c.2494G>T (p.Glu832Ter)
c.2425G>T (p.Glu809Ter)
c.2497G>T (p.Glu833Ter)
n.2743G>T
c.2479G>T (p.Glu827Ter)
c.1834G>T (p.Glu612Ter)
c.2428G>T (p.Glu810Ter)
c.2446G>T (p.Glu816Ter)
c.877G>T (p.Glu293Ter)
c.1288G>T (p.Glu430Ter)
c.2389G>T (p.Glu797Ter)
c.2476G>T (p.Glu826Ter)
c.2407G>T (p.Glu803Ter)
c.1939G>T (p.Glu647Ter)
Xg.41531015C>GCA412989933CASKc.2461G>C (p.Glu821Gln)
c.2458G>C (p.Glu820Gln)
c.2512G>C (p.Glu838Gln)
c.2410G>C (p.Glu804Gln)
c.2515G>C (p.Glu839Gln)
c.1132G>C (p.Glu378Gln)
c.2443G>C (p.Glu815Gln)
c.2374G>C (p.Glu792Gln)
n.1291G>C
c.284G>C
c.2494G>C (p.Glu832Gln)
c.2425G>C (p.Glu809Gln)
c.2497G>C (p.Glu833Gln)
n.2743G>C
c.2479G>C (p.Glu827Gln)
c.1834G>C (p.Glu612Gln)
c.2428G>C (p.Glu810Gln)
c.2446G>C (p.Glu816Gln)
c.877G>C (p.Glu293Gln)
c.1288G>C (p.Glu430Gln)
c.2389G>C (p.Glu797Gln)
c.2476G>C (p.Glu826Gln)
c.2407G>C (p.Glu803Gln)
c.1939G>C (p.Glu647Gln)
Xg.41531015C>TCA412989934CASKc.2461G>A (p.Glu821Lys)
c.2458G>A (p.Glu820Lys)
c.2512G>A (p.Glu838Lys)
c.2410G>A (p.Glu804Lys)
c.2515G>A (p.Glu839Lys)
c.1132G>A (p.Glu378Lys)
c.2443G>A (p.Glu815Lys)
c.2374G>A (p.Glu792Lys)
n.1291G>A
c.284G>A
c.2494G>A (p.Glu832Lys)
c.2425G>A (p.Glu809Lys)
c.2497G>A (p.Glu833Lys)
n.2743G>A
c.2479G>A (p.Glu827Lys)
c.1834G>A (p.Glu612Lys)
c.2428G>A (p.Glu810Lys)
c.2446G>A (p.Glu816Lys)
c.877G>A (p.Glu293Lys)
c.1288G>A (p.Glu430Lys)
c.2389G>A (p.Glu797Lys)
c.2476G>A (p.Glu826Lys)
c.2407G>A (p.Glu803Lys)
c.1939G>A (p.Glu647Lys)
Xg.41531016C>ACA516099048CASKc.2460G>T (p.Val820=)
c.2457G>T (p.Val819=)
c.2511G>T (p.Val837=)
c.2409G>T (p.Val803=)
c.2514G>T (p.Val838=)
c.1131G>T (p.Val377=)
c.2442G>T (p.Val814=)
c.2373G>T (p.Val791=)
n.1290G>T
c.283G>T
c.2493G>T (p.Val831=)
c.2424G>T (p.Val808=)
c.2496G>T (p.Val832=)
n.2742G>T
c.2478G>T (p.Val826=)
c.1833G>T (p.Val611=)
c.2427G>T (p.Val809=)
c.2445G>T (p.Val815=)
c.876G>T (p.Val292=)
c.1287G>T (p.Val429=)
c.2388G>T (p.Val796=)
c.2475G>T (p.Val825=)
c.2406G>T (p.Val802=)
c.1938G>T (p.Val646=)
Xg.41531016C=CA2425947665CASKc.2460G= (p.Val820=)
c.2457G= (p.Val819=)
c.2511G= (p.Val837=)
c.2409G= (p.Val803=)
c.2514G= (p.Val838=)
c.1131G= (p.Val377=)
c.2442G= (p.Val814=)
c.2373G= (p.Val791=)
n.1290G=
c.283G=
c.2493G= (p.Val831=)
c.2424G= (p.Val808=)
c.2496G= (p.Val832=)
n.2742G=
c.2478G= (p.Val826=)
c.1833G= (p.Val611=)
c.2427G= (p.Val809=)
c.2445G= (p.Val815=)
c.876G= (p.Val292=)
c.1287G= (p.Val429=)
c.2388G= (p.Val796=)
c.2475G= (p.Val825=)
c.2406G= (p.Val802=)
c.1938G= (p.Val646=)
Xg.41531016C>GCA516099049CASKc.2460G>C (p.Val820=)
c.2457G>C (p.Val819=)
c.2511G>C (p.Val837=)
c.2409G>C (p.Val803=)
c.2514G>C (p.Val838=)
c.1131G>C (p.Val377=)
c.2442G>C (p.Val814=)
c.2373G>C (p.Val791=)
n.1290G>C
c.283G>C
c.2493G>C (p.Val831=)
c.2424G>C (p.Val808=)
c.2496G>C (p.Val832=)
n.2742G>C
c.2478G>C (p.Val826=)
c.1833G>C (p.Val611=)
c.2427G>C (p.Val809=)
c.2445G>C (p.Val815=)
c.876G>C (p.Val292=)
c.1287G>C (p.Val429=)
c.2388G>C (p.Val796=)
c.2475G>C (p.Val825=)
c.2406G>C (p.Val802=)
c.1938G>C (p.Val646=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531016C>TCA516099050CASKc.2460G>A (p.Val820=)
c.2457G>A (p.Val819=)
c.2511G>A (p.Val837=)
c.2409G>A (p.Val803=)
c.2514G>A (p.Val838=)
c.1131G>A (p.Val377=)
c.2442G>A (p.Val814=)
c.2373G>A (p.Val791=)
n.1290G>A
c.283G>A
c.2493G>A (p.Val831=)
c.2424G>A (p.Val808=)
c.2496G>A (p.Val832=)
n.2742G>A
c.2478G>A (p.Val826=)
c.1833G>A (p.Val611=)
c.2427G>A (p.Val809=)
c.2445G>A (p.Val815=)
c.876G>A (p.Val292=)
c.1287G>A (p.Val429=)
c.2388G>A (p.Val796=)
c.2475G>A (p.Val825=)
c.2406G>A (p.Val802=)
c.1938G>A (p.Val646=)
Xg.41531017A>CCA412989935CASKc.2459T>G (p.Val820Gly)
c.2456T>G (p.Val819Gly)
c.2510T>G (p.Val837Gly)
c.2408T>G (p.Val803Gly)
c.2513T>G (p.Val838Gly)
c.1130T>G (p.Val377Gly)
c.2441T>G (p.Val814Gly)
c.2372T>G (p.Val791Gly)
n.1289T>G
c.282T>G
c.2492T>G (p.Val831Gly)
c.2423T>G (p.Val808Gly)
c.2495T>G (p.Val832Gly)
n.2741T>G
c.2477T>G (p.Val826Gly)
c.1832T>G (p.Val611Gly)
c.2426T>G (p.Val809Gly)
c.2444T>G (p.Val815Gly)
c.875T>G (p.Val292Gly)
c.1286T>G (p.Val429Gly)
c.2387T>G (p.Val796Gly)
c.2474T>G (p.Val825Gly)
c.2405T>G (p.Val802Gly)
c.1937T>G (p.Val646Gly)
Xg.41531017A>GCA412989936CASKc.2459T>C (p.Val820Ala)
c.2456T>C (p.Val819Ala)
c.2510T>C (p.Val837Ala)
c.2408T>C (p.Val803Ala)
c.2513T>C (p.Val838Ala)
c.1130T>C (p.Val377Ala)
c.2441T>C (p.Val814Ala)
c.2372T>C (p.Val791Ala)
n.1289T>C
c.282T>C
c.2492T>C (p.Val831Ala)
c.2423T>C (p.Val808Ala)
c.2495T>C (p.Val832Ala)
n.2741T>C
c.2477T>C (p.Val826Ala)
c.1832T>C (p.Val611Ala)
c.2426T>C (p.Val809Ala)
c.2444T>C (p.Val815Ala)
c.875T>C (p.Val292Ala)
c.1286T>C (p.Val429Ala)
c.2387T>C (p.Val796Ala)
c.2474T>C (p.Val825Ala)
c.2405T>C (p.Val802Ala)
c.1937T>C (p.Val646Ala)
Xg.41531017A>TCA412989937CASKc.2459T>A (p.Val820Glu)
c.2456T>A (p.Val819Glu)
c.2510T>A (p.Val837Glu)
c.2408T>A (p.Val803Glu)
c.2513T>A (p.Val838Glu)
c.1130T>A (p.Val377Glu)
c.2441T>A (p.Val814Glu)
c.2372T>A (p.Val791Glu)
n.1289T>A
c.282T>A
c.2492T>A (p.Val831Glu)
c.2423T>A (p.Val808Glu)
c.2495T>A (p.Val832Glu)
n.2741T>A
c.2477T>A (p.Val826Glu)
c.1832T>A (p.Val611Glu)
c.2426T>A (p.Val809Glu)
c.2444T>A (p.Val815Glu)
c.875T>A (p.Val292Glu)
c.1286T>A (p.Val429Glu)
c.2387T>A (p.Val796Glu)
c.2474T>A (p.Val825Glu)
c.2405T>A (p.Val802Glu)
c.1937T>A (p.Val646Glu)
Xg.41531018C>ACA412989941CASKc.2458G>T (p.Val820Leu)
c.2455G>T (p.Val819Leu)
c.2509G>T (p.Val837Leu)
c.2407G>T (p.Val803Leu)
c.2512G>T (p.Val838Leu)
c.1129G>T (p.Val377Leu)
c.2440G>T (p.Val814Leu)
c.2371G>T (p.Val791Leu)
n.1288G>T
c.281G>T
c.2491G>T (p.Val831Leu)
c.2422G>T (p.Val808Leu)
c.2494G>T (p.Val832Leu)
n.2740G>T
c.2476G>T (p.Val826Leu)
c.1831G>T (p.Val611Leu)
c.2425G>T (p.Val809Leu)
c.2443G>T (p.Val815Leu)
c.874G>T (p.Val292Leu)
c.1285G>T (p.Val429Leu)
c.2386G>T (p.Val796Leu)
c.2473G>T (p.Val825Leu)
c.2404G>T (p.Val802Leu)
c.1936G>T (p.Val646Leu)
Xg.41531018C=CA2425947666CASKc.2458G= (p.Val820=)
c.2455G= (p.Val819=)
c.2509G= (p.Val837=)
c.2407G= (p.Val803=)
c.2512G= (p.Val838=)
c.1129G= (p.Val377=)
c.2440G= (p.Val814=)
c.2371G= (p.Val791=)
n.1288G=
c.281G=
c.2491G= (p.Val831=)
c.2422G= (p.Val808=)
c.2494G= (p.Val832=)
n.2740G=
c.2476G= (p.Val826=)
c.1831G= (p.Val611=)
c.2425G= (p.Val809=)
c.2443G= (p.Val815=)
c.874G= (p.Val292=)
c.1285G= (p.Val429=)
c.2386G= (p.Val796=)
c.2473G= (p.Val825=)
c.2404G= (p.Val802=)
c.1936G= (p.Val646=)
Xg.41531018C>GCA412989939CASKc.2458G>C (p.Val820Leu)
c.2455G>C (p.Val819Leu)
c.2509G>C (p.Val837Leu)
c.2407G>C (p.Val803Leu)
c.2512G>C (p.Val838Leu)
c.1129G>C (p.Val377Leu)
c.2440G>C (p.Val814Leu)
c.2371G>C (p.Val791Leu)
n.1288G>C
c.281G>C
c.2491G>C (p.Val831Leu)
c.2422G>C (p.Val808Leu)
c.2494G>C (p.Val832Leu)
n.2740G>C
c.2476G>C (p.Val826Leu)
c.1831G>C (p.Val611Leu)
c.2425G>C (p.Val809Leu)
c.2443G>C (p.Val815Leu)
c.874G>C (p.Val292Leu)
c.1285G>C (p.Val429Leu)
c.2386G>C (p.Val796Leu)
c.2473G>C (p.Val825Leu)
c.2404G>C (p.Val802Leu)
c.1936G>C (p.Val646Leu)
Xg.41531018C>TCA10390013CASKc.2458G>A (p.Val820Met)
c.2455G>A (p.Val819Met)
c.2509G>A (p.Val837Met)
c.2407G>A (p.Val803Met)
c.2512G>A (p.Val838Met)
c.1129G>A (p.Val377Met)
c.2440G>A (p.Val814Met)
c.2371G>A (p.Val791Met)
n.1288G>A
c.281G>A
c.2491G>A (p.Val831Met)
c.2422G>A (p.Val808Met)
c.2494G>A (p.Val832Met)
n.2740G>A
c.2476G>A (p.Val826Met)
c.1831G>A (p.Val611Met)
c.2425G>A (p.Val809Met)
c.2443G>A (p.Val815Met)
c.874G>A (p.Val292Met)
c.1285G>A (p.Val429Met)
c.2386G>A (p.Val796Met)
c.2473G>A (p.Val825Met)
c.2404G>A (p.Val802Met)
c.1936G>A (p.Val646Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531019G>ACA10390014CASKc.2457C>T (p.Asp819=)
c.2454C>T (p.Asp818=)
c.2508C>T (p.Asp836=)
c.2406C>T (p.Asp802=)
c.2511C>T (p.Asp837=)
c.1128C>T (p.Asp376=)
c.2439C>T (p.Asp813=)
c.2370C>T (p.Asp790=)
n.1287C>T
c.280C>T
c.2490C>T (p.Asp830=)
c.2421C>T (p.Asp807=)
c.2493C>T (p.Asp831=)
n.2739C>T
c.2475C>T (p.Asp825=)
c.1830C>T (p.Asp610=)
c.2424C>T (p.Asp808=)
c.2442C>T (p.Asp814=)
c.873C>T (p.Asp291=)
c.1284C>T (p.Asp428=)
c.2385C>T (p.Asp795=)
c.2472C>T (p.Asp824=)
c.2403C>T (p.Asp801=)
c.1935C>T (p.Asp645=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531019G>CCA412989943CASKc.2457C>G (p.Asp819Glu)
c.2454C>G (p.Asp818Glu)
c.2508C>G (p.Asp836Glu)
c.2406C>G (p.Asp802Glu)
c.2511C>G (p.Asp837Glu)
c.1128C>G (p.Asp376Glu)
c.2439C>G (p.Asp813Glu)
c.2370C>G (p.Asp790Glu)
n.1287C>G
c.280C>G
c.2490C>G (p.Asp830Glu)
c.2421C>G (p.Asp807Glu)
c.2493C>G (p.Asp831Glu)
n.2739C>G
c.2475C>G (p.Asp825Glu)
c.1830C>G (p.Asp610Glu)
c.2424C>G (p.Asp808Glu)
c.2442C>G (p.Asp814Glu)
c.873C>G (p.Asp291Glu)
c.1284C>G (p.Asp428Glu)
c.2385C>G (p.Asp795Glu)
c.2472C>G (p.Asp824Glu)
c.2403C>G (p.Asp801Glu)
c.1935C>G (p.Asp645Glu)
Xg.41531019G=CA2425947667CASKc.2457C= (p.Asp819=)
c.2454C= (p.Asp818=)
c.2508C= (p.Asp836=)
c.2406C= (p.Asp802=)
c.2511C= (p.Asp837=)
c.1128C= (p.Asp376=)
c.2439C= (p.Asp813=)
c.2370C= (p.Asp790=)
n.1287C=
c.280C=
c.2490C= (p.Asp830=)
c.2421C= (p.Asp807=)
c.2493C= (p.Asp831=)
n.2739C=
c.2475C= (p.Asp825=)
c.1830C= (p.Asp610=)
c.2424C= (p.Asp808=)
c.2442C= (p.Asp814=)
c.873C= (p.Asp291=)
c.1284C= (p.Asp428=)
c.2385C= (p.Asp795=)
c.2472C= (p.Asp824=)
c.2403C= (p.Asp801=)
c.1935C= (p.Asp645=)
Xg.41531019G>TCA412989945CASKc.2457C>A (p.Asp819Glu)
c.2454C>A (p.Asp818Glu)
c.2508C>A (p.Asp836Glu)
c.2406C>A (p.Asp802Glu)
c.2511C>A (p.Asp837Glu)
c.1128C>A (p.Asp376Glu)
c.2439C>A (p.Asp813Glu)
c.2370C>A (p.Asp790Glu)
n.1287C>A
c.280C>A
c.2490C>A (p.Asp830Glu)
c.2421C>A (p.Asp807Glu)
c.2493C>A (p.Asp831Glu)
n.2739C>A
c.2475C>A (p.Asp825Glu)
c.1830C>A (p.Asp610Glu)
c.2424C>A (p.Asp808Glu)
c.2442C>A (p.Asp814Glu)
c.873C>A (p.Asp291Glu)
c.1284C>A (p.Asp428Glu)
c.2385C>A (p.Asp795Glu)
c.2472C>A (p.Asp824Glu)
c.2403C>A (p.Asp801Glu)
c.1935C>A (p.Asp645Glu)
Xg.41531020T>ACA412989947CASKc.2456A>T (p.Asp819Val)
c.2453A>T (p.Asp818Val)
c.2507A>T (p.Asp836Val)
c.2405A>T (p.Asp802Val)
c.2510A>T (p.Asp837Val)
c.1127A>T (p.Asp376Val)
c.2438A>T (p.Asp813Val)
c.2369A>T (p.Asp790Val)
n.1286A>T
c.279A>T
c.2489A>T (p.Asp830Val)
c.2420A>T (p.Asp807Val)
c.2492A>T (p.Asp831Val)
n.2738A>T
c.2474A>T (p.Asp825Val)
c.1829A>T (p.Asp610Val)
c.2423A>T (p.Asp808Val)
c.2441A>T (p.Asp814Val)
c.872A>T (p.Asp291Val)
c.1283A>T (p.Asp428Val)
c.2384A>T (p.Asp795Val)
c.2471A>T (p.Asp824Val)
c.2402A>T (p.Asp801Val)
c.1934A>T (p.Asp645Val)
Xg.41531020T>CCA412989949CASKc.2456A>G (p.Asp819Gly)
c.2453A>G (p.Asp818Gly)
c.2507A>G (p.Asp836Gly)
c.2405A>G (p.Asp802Gly)
c.2510A>G (p.Asp837Gly)
c.1127A>G (p.Asp376Gly)
c.2438A>G (p.Asp813Gly)
c.2369A>G (p.Asp790Gly)
n.1286A>G
c.279A>G
c.2489A>G (p.Asp830Gly)
c.2420A>G (p.Asp807Gly)
c.2492A>G (p.Asp831Gly)
n.2738A>G
c.2474A>G (p.Asp825Gly)
c.1829A>G (p.Asp610Gly)
c.2423A>G (p.Asp808Gly)
c.2441A>G (p.Asp814Gly)
c.872A>G (p.Asp291Gly)
c.1283A>G (p.Asp428Gly)
c.2384A>G (p.Asp795Gly)
c.2471A>G (p.Asp824Gly)
c.2402A>G (p.Asp801Gly)
c.1934A>G (p.Asp645Gly)
Xg.41531020T>GCA412989950CASKc.2456A>C (p.Asp819Ala)
c.2453A>C (p.Asp818Ala)
c.2507A>C (p.Asp836Ala)
c.2405A>C (p.Asp802Ala)
c.2510A>C (p.Asp837Ala)
c.1127A>C (p.Asp376Ala)
c.2438A>C (p.Asp813Ala)
c.2369A>C (p.Asp790Ala)
n.1286A>C
c.279A>C
c.2489A>C (p.Asp830Ala)
c.2420A>C (p.Asp807Ala)
c.2492A>C (p.Asp831Ala)
n.2738A>C
c.2474A>C (p.Asp825Ala)
c.1829A>C (p.Asp610Ala)
c.2423A>C (p.Asp808Ala)
c.2441A>C (p.Asp814Ala)
c.872A>C (p.Asp291Ala)
c.1283A>C (p.Asp428Ala)
c.2384A>C (p.Asp795Ala)
c.2471A>C (p.Asp824Ala)
c.2402A>C (p.Asp801Ala)
c.1934A>C (p.Asp645Ala)
Xg.41531021C>ACA412989952CASKc.2455G>T (p.Asp819Tyr)
c.2452G>T (p.Asp818Tyr)
c.2506G>T (p.Asp836Tyr)
c.2404G>T (p.Asp802Tyr)
c.2509G>T (p.Asp837Tyr)
c.1126G>T (p.Asp376Tyr)
c.2437G>T (p.Asp813Tyr)
c.2368G>T (p.Asp790Tyr)
n.1285G>T
c.278G>T
c.2488G>T (p.Asp830Tyr)
c.2419G>T (p.Asp807Tyr)
c.2491G>T (p.Asp831Tyr)
n.2737G>T
c.2473G>T (p.Asp825Tyr)
c.1828G>T (p.Asp610Tyr)
c.2422G>T (p.Asp808Tyr)
c.2440G>T (p.Asp814Tyr)
c.871G>T (p.Asp291Tyr)
c.1282G>T (p.Asp428Tyr)
c.2383G>T (p.Asp795Tyr)
c.2470G>T (p.Asp824Tyr)
c.2401G>T (p.Asp801Tyr)
c.1933G>T (p.Asp645Tyr)
Xg.41531021C=CA2425947668CASKc.2455G= (p.Asp819=)
c.2452G= (p.Asp818=)
c.2506G= (p.Asp836=)
c.2404G= (p.Asp802=)
c.2509G= (p.Asp837=)
c.1126G= (p.Asp376=)
c.2437G= (p.Asp813=)
c.2368G= (p.Asp790=)
n.1285G=
c.278G=
c.2488G= (p.Asp830=)
c.2419G= (p.Asp807=)
c.2491G= (p.Asp831=)
n.2737G=
c.2473G= (p.Asp825=)
c.1828G= (p.Asp610=)
c.2422G= (p.Asp808=)
c.2440G= (p.Asp814=)
c.871G= (p.Asp291=)
c.1282G= (p.Asp428=)
c.2383G= (p.Asp795=)
c.2470G= (p.Asp824=)
c.2401G= (p.Asp801=)
c.1933G= (p.Asp645=)
Xg.41531021C>GCA412989956CASKc.2455G>C (p.Asp819His)
c.2452G>C (p.Asp818His)
c.2506G>C (p.Asp836His)
c.2404G>C (p.Asp802His)
c.2509G>C (p.Asp837His)
c.1126G>C (p.Asp376His)
c.2437G>C (p.Asp813His)
c.2368G>C (p.Asp790His)
n.1285G>C
c.278G>C
c.2488G>C (p.Asp830His)
c.2419G>C (p.Asp807His)
c.2491G>C (p.Asp831His)
n.2737G>C
c.2473G>C (p.Asp825His)
c.1828G>C (p.Asp610His)
c.2422G>C (p.Asp808His)
c.2440G>C (p.Asp814His)
c.871G>C (p.Asp291His)
c.1282G>C (p.Asp428His)
c.2383G>C (p.Asp795His)
c.2470G>C (p.Asp824His)
c.2401G>C (p.Asp801His)
c.1933G>C (p.Asp645His)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531021C>TCA412989954CASKc.2455G>A (p.Asp819Asn)
c.2452G>A (p.Asp818Asn)
c.2506G>A (p.Asp836Asn)
c.2404G>A (p.Asp802Asn)
c.2509G>A (p.Asp837Asn)
c.1126G>A (p.Asp376Asn)
c.2437G>A (p.Asp813Asn)
c.2368G>A (p.Asp790Asn)
n.1285G>A
c.278G>A
c.2488G>A (p.Asp830Asn)
c.2419G>A (p.Asp807Asn)
c.2491G>A (p.Asp831Asn)
n.2737G>A
c.2473G>A (p.Asp825Asn)
c.1828G>A (p.Asp610Asn)
c.2422G>A (p.Asp808Asn)
c.2440G>A (p.Asp814Asn)
c.871G>A (p.Asp291Asn)
c.1282G>A (p.Asp428Asn)
c.2383G>A (p.Asp795Asn)
c.2470G>A (p.Asp824Asn)
c.2401G>A (p.Asp801Asn)
c.1933G>A (p.Asp645Asn)
Xg.41531022C>ACA516099052CASKc.2454G>T (p.Leu818=)
c.2451G>T (p.Leu817=)
c.2505G>T (p.Leu835=)
c.2403G>T (p.Leu801=)
c.2508G>T (p.Leu836=)
c.1125G>T (p.Leu375=)
c.2436G>T (p.Leu812=)
c.2367G>T (p.Leu789=)
n.1284G>T
c.277G>T
c.2487G>T (p.Leu829=)
c.2418G>T (p.Leu806=)
c.2490G>T (p.Leu830=)
n.2736G>T
c.2472G>T (p.Leu824=)
c.1827G>T (p.Leu609=)
c.2421G>T (p.Leu807=)
c.2439G>T (p.Leu813=)
c.870G>T (p.Leu290=)
c.1281G>T (p.Leu427=)
c.2382G>T (p.Leu794=)
c.2469G>T (p.Leu823=)
c.2400G>T (p.Leu800=)
c.1932G>T (p.Leu644=)
Xg.41531022C=CA2425947669CASKc.2454G= (p.Leu818=)
c.2451G= (p.Leu817=)
c.2505G= (p.Leu835=)
c.2403G= (p.Leu801=)
c.2508G= (p.Leu836=)
c.1125G= (p.Leu375=)
c.2436G= (p.Leu812=)
c.2367G= (p.Leu789=)
n.1284G=
c.277G=
c.2487G= (p.Leu829=)
c.2418G= (p.Leu806=)
c.2490G= (p.Leu830=)
n.2736G=
c.2472G= (p.Leu824=)
c.1827G= (p.Leu609=)
c.2421G= (p.Leu807=)
c.2439G= (p.Leu813=)
c.870G= (p.Leu290=)
c.1281G= (p.Leu427=)
c.2382G= (p.Leu794=)
c.2469G= (p.Leu823=)
c.2400G= (p.Leu800=)
c.1932G= (p.Leu644=)
Xg.41531022C>GCA516099051CASKc.2454G>C (p.Leu818=)
c.2451G>C (p.Leu817=)
c.2505G>C (p.Leu835=)
c.2403G>C (p.Leu801=)
c.2508G>C (p.Leu836=)
c.1125G>C (p.Leu375=)
c.2436G>C (p.Leu812=)
c.2367G>C (p.Leu789=)
n.1284G>C
c.277G>C
c.2487G>C (p.Leu829=)
c.2418G>C (p.Leu806=)
c.2490G>C (p.Leu830=)
n.2736G>C
c.2472G>C (p.Leu824=)
c.1827G>C (p.Leu609=)
c.2421G>C (p.Leu807=)
c.2439G>C (p.Leu813=)
c.870G>C (p.Leu290=)
c.1281G>C (p.Leu427=)
c.2382G>C (p.Leu794=)
c.2469G>C (p.Leu823=)
c.2400G>C (p.Leu800=)
c.1932G>C (p.Leu644=)
Xg.41531022C>TCA329228201CASKc.2454G>A (p.Leu818=)
c.2451G>A (p.Leu817=)
c.2505G>A (p.Leu835=)
c.2403G>A (p.Leu801=)
c.2508G>A (p.Leu836=)
c.1125G>A (p.Leu375=)
c.2436G>A (p.Leu812=)
c.2367G>A (p.Leu789=)
n.1284G>A
c.277G>A
c.2487G>A (p.Leu829=)
c.2418G>A (p.Leu806=)
c.2490G>A (p.Leu830=)
n.2736G>A
c.2472G>A (p.Leu824=)
c.1827G>A (p.Leu609=)
c.2421G>A (p.Leu807=)
c.2439G>A (p.Leu813=)
c.870G>A (p.Leu290=)
c.1281G>A (p.Leu427=)
c.2382G>A (p.Leu794=)
c.2469G>A (p.Leu823=)
c.2400G>A (p.Leu800=)
c.1932G>A (p.Leu644=)
 ClinVar dbSNP gnomAD v4
Xg.41531023A>CCA412989958CASKc.2453T>G (p.Leu818Arg)
c.2450T>G (p.Leu817Arg)
c.2504T>G (p.Leu835Arg)
c.2402T>G (p.Leu801Arg)
c.2507T>G (p.Leu836Arg)
c.1124T>G (p.Leu375Arg)
c.2435T>G (p.Leu812Arg)
c.2366T>G (p.Leu789Arg)
n.1283T>G
c.276T>G
c.2486T>G (p.Leu829Arg)
c.2417T>G (p.Leu806Arg)
c.2489T>G (p.Leu830Arg)
n.2735T>G
c.2471T>G (p.Leu824Arg)
c.1826T>G (p.Leu609Arg)
c.2420T>G (p.Leu807Arg)
c.2438T>G (p.Leu813Arg)
c.869T>G (p.Leu290Arg)
c.1280T>G (p.Leu427Arg)
c.2381T>G (p.Leu794Arg)
c.2468T>G (p.Leu823Arg)
c.2399T>G (p.Leu800Arg)
c.1931T>G (p.Leu644Arg)
Xg.41531023A>GCA412989960CASKc.2453T>C (p.Leu818Pro)
c.2450T>C (p.Leu817Pro)
c.2504T>C (p.Leu835Pro)
c.2402T>C (p.Leu801Pro)
c.2507T>C (p.Leu836Pro)
c.1124T>C (p.Leu375Pro)
c.2435T>C (p.Leu812Pro)
c.2366T>C (p.Leu789Pro)
n.1283T>C
c.276T>C
c.2486T>C (p.Leu829Pro)
c.2417T>C (p.Leu806Pro)
c.2489T>C (p.Leu830Pro)
n.2735T>C
c.2471T>C (p.Leu824Pro)
c.1826T>C (p.Leu609Pro)
c.2420T>C (p.Leu807Pro)
c.2438T>C (p.Leu813Pro)
c.869T>C (p.Leu290Pro)
c.1280T>C (p.Leu427Pro)
c.2381T>C (p.Leu794Pro)
c.2468T>C (p.Leu823Pro)
c.2399T>C (p.Leu800Pro)
c.1931T>C (p.Leu644Pro)
Xg.41531023A>TCA412989962CASKc.2453T>A (p.Leu818Gln)
c.2450T>A (p.Leu817Gln)
c.2504T>A (p.Leu835Gln)
c.2402T>A (p.Leu801Gln)
c.2507T>A (p.Leu836Gln)
c.1124T>A (p.Leu375Gln)
c.2435T>A (p.Leu812Gln)
c.2366T>A (p.Leu789Gln)
n.1283T>A
c.276T>A
c.2486T>A (p.Leu829Gln)
c.2417T>A (p.Leu806Gln)
c.2489T>A (p.Leu830Gln)
n.2735T>A
c.2471T>A (p.Leu824Gln)
c.1826T>A (p.Leu609Gln)
c.2420T>A (p.Leu807Gln)
c.2438T>A (p.Leu813Gln)
c.869T>A (p.Leu290Gln)
c.1280T>A (p.Leu427Gln)
c.2381T>A (p.Leu794Gln)
c.2468T>A (p.Leu823Gln)
c.2399T>A (p.Leu800Gln)
c.1931T>A (p.Leu644Gln)
Xg.41531024G>ACA516099053CASKc.2452C>T (p.Leu818=)
c.2449C>T (p.Leu817=)
c.2503C>T (p.Leu835=)
c.2401C>T (p.Leu801=)
c.2506C>T (p.Leu836=)
c.1123C>T (p.Leu375=)
c.2434C>T (p.Leu812=)
c.2365C>T (p.Leu789=)
n.1282C>T
c.275C>T
c.2485C>T (p.Leu829=)
c.2416C>T (p.Leu806=)
c.2488C>T (p.Leu830=)
n.2734C>T
c.2470C>T (p.Leu824=)
c.1825C>T (p.Leu609=)
c.2419C>T (p.Leu807=)
c.2437C>T (p.Leu813=)
c.868C>T (p.Leu290=)
c.1279C>T (p.Leu427=)
c.2380C>T (p.Leu794=)
c.2467C>T (p.Leu823=)
c.2398C>T (p.Leu800=)
c.1930C>T (p.Leu644=)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531024G>CCA412989964CASKc.2452C>G (p.Leu818Val)
c.2449C>G (p.Leu817Val)
c.2503C>G (p.Leu835Val)
c.2401C>G (p.Leu801Val)
c.2506C>G (p.Leu836Val)
c.1123C>G (p.Leu375Val)
c.2434C>G (p.Leu812Val)
c.2365C>G (p.Leu789Val)
n.1282C>G
c.275C>G
c.2485C>G (p.Leu829Val)
c.2416C>G (p.Leu806Val)
c.2488C>G (p.Leu830Val)
n.2734C>G
c.2470C>G (p.Leu824Val)
c.1825C>G (p.Leu609Val)
c.2419C>G (p.Leu807Val)
c.2437C>G (p.Leu813Val)
c.868C>G (p.Leu290Val)
c.1279C>G (p.Leu427Val)
c.2380C>G (p.Leu794Val)
c.2467C>G (p.Leu823Val)
c.2398C>G (p.Leu800Val)
c.1930C>G (p.Leu644Val)
Xg.41531024G=CA2425947670CASKc.2452C= (p.Leu818=)
c.2449C= (p.Leu817=)
c.2503C= (p.Leu835=)
c.2401C= (p.Leu801=)
c.2506C= (p.Leu836=)
c.1123C= (p.Leu375=)
c.2434C= (p.Leu812=)
c.2365C= (p.Leu789=)
n.1282C=
c.275C=
c.2485C= (p.Leu829=)
c.2416C= (p.Leu806=)
c.2488C= (p.Leu830=)
n.2734C=
c.2470C= (p.Leu824=)
c.1825C= (p.Leu609=)
c.2419C= (p.Leu807=)
c.2437C= (p.Leu813=)
c.868C= (p.Leu290=)
c.1279C= (p.Leu427=)
c.2380C= (p.Leu794=)
c.2467C= (p.Leu823=)
c.2398C= (p.Leu800=)
c.1930C= (p.Leu644=)
Xg.41531024G>TCA412989966CASKc.2452C>A (p.Leu818Met)
c.2449C>A (p.Leu817Met)
c.2503C>A (p.Leu835Met)
c.2401C>A (p.Leu801Met)
c.2506C>A (p.Leu836Met)
c.1123C>A (p.Leu375Met)
c.2434C>A (p.Leu812Met)
c.2365C>A (p.Leu789Met)
n.1282C>A
c.275C>A
c.2485C>A (p.Leu829Met)
c.2416C>A (p.Leu806Met)
c.2488C>A (p.Leu830Met)
n.2734C>A
c.2470C>A (p.Leu824Met)
c.1825C>A (p.Leu609Met)
c.2419C>A (p.Leu807Met)
c.2437C>A (p.Leu813Met)
c.868C>A (p.Leu290Met)
c.1279C>A (p.Leu427Met)
c.2380C>A (p.Leu794Met)
c.2467C>A (p.Leu823Met)
c.2398C>A (p.Leu800Met)
c.1930C>A (p.Leu644Met)
 COSMIC COSMIC
Xg.41531025T>ACA516099054CASKc.2451A>T (p.Ile817=)
c.2448A>T (p.Ile816=)
c.2502A>T (p.Ile834=)
c.2400A>T (p.Ile800=)
c.2505A>T (p.Ile835=)
c.1122A>T (p.Ile374=)
c.2433A>T (p.Ile811=)
c.2364A>T (p.Ile788=)
n.1281A>T
c.274A>T
c.2484A>T (p.Ile828=)
c.2415A>T (p.Ile805=)
c.2487A>T (p.Ile829=)
n.2733A>T
c.2469A>T (p.Ile823=)
c.1824A>T (p.Ile608=)
c.2418A>T (p.Ile806=)
c.2436A>T (p.Ile812=)
c.867A>T (p.Ile289=)
c.1278A>T (p.Ile426=)
c.2379A>T (p.Ile793=)
c.2466A>T (p.Ile822=)
c.2397A>T (p.Ile799=)
c.1929A>T (p.Ile643=)
Xg.41531025T>CCA412989968CASKc.2451A>G (p.Ile817Met)
c.2448A>G (p.Ile816Met)
c.2502A>G (p.Ile834Met)
c.2400A>G (p.Ile800Met)
c.2505A>G (p.Ile835Met)
c.1122A>G (p.Ile374Met)
c.2433A>G (p.Ile811Met)
c.2364A>G (p.Ile788Met)
n.1281A>G
c.274A>G
c.2484A>G (p.Ile828Met)
c.2415A>G (p.Ile805Met)
c.2487A>G (p.Ile829Met)
n.2733A>G
c.2469A>G (p.Ile823Met)
c.1824A>G (p.Ile608Met)
c.2418A>G (p.Ile806Met)
c.2436A>G (p.Ile812Met)
c.867A>G (p.Ile289Met)
c.1278A>G (p.Ile426Met)
c.2379A>G (p.Ile793Met)
c.2466A>G (p.Ile822Met)
c.2397A>G (p.Ile799Met)
c.1929A>G (p.Ile643Met)
Xg.41531025T>GCA516099055CASKc.2451A>C (p.Ile817=)
c.2448A>C (p.Ile816=)
c.2502A>C (p.Ile834=)
c.2400A>C (p.Ile800=)
c.2505A>C (p.Ile835=)
c.1122A>C (p.Ile374=)
c.2433A>C (p.Ile811=)
c.2364A>C (p.Ile788=)
n.1281A>C
c.274A>C
c.2484A>C (p.Ile828=)
c.2415A>C (p.Ile805=)
c.2487A>C (p.Ile829=)
n.2733A>C
c.2469A>C (p.Ile823=)
c.1824A>C (p.Ile608=)
c.2418A>C (p.Ile806=)
c.2436A>C (p.Ile812=)
c.867A>C (p.Ile289=)
c.1278A>C (p.Ile426=)
c.2379A>C (p.Ile793=)
c.2466A>C (p.Ile822=)
c.2397A>C (p.Ile799=)
c.1929A>C (p.Ile643=)
Xg.41531026A=CA2425947671CASKc.2450T= (p.Ile817=)
c.2447T= (p.Ile816=)
c.2501T= (p.Ile834=)
c.2399T= (p.Ile800=)
c.2504T= (p.Ile835=)
c.1121T= (p.Ile374=)
c.2432T= (p.Ile811=)
c.2363T= (p.Ile788=)
n.1280T=
c.273T=
c.2483T= (p.Ile828=)
c.2414T= (p.Ile805=)
c.2486T= (p.Ile829=)
n.2732T=
c.2468T= (p.Ile823=)
c.1823T= (p.Ile608=)
c.2417T= (p.Ile806=)
c.2435T= (p.Ile812=)
c.866T= (p.Ile289=)
c.1277T= (p.Ile426=)
c.2378T= (p.Ile793=)
c.2465T= (p.Ile822=)
c.2396T= (p.Ile799=)
c.1928T= (p.Ile643=)
Xg.41531026A>CCA412989969CASKc.2450T>G (p.Ile817Arg)
c.2447T>G (p.Ile816Arg)
c.2501T>G (p.Ile834Arg)
c.2399T>G (p.Ile800Arg)
c.2504T>G (p.Ile835Arg)
c.1121T>G (p.Ile374Arg)
c.2432T>G (p.Ile811Arg)
c.2363T>G (p.Ile788Arg)
n.1280T>G
c.273T>G
c.2483T>G (p.Ile828Arg)
c.2414T>G (p.Ile805Arg)
c.2486T>G (p.Ile829Arg)
n.2732T>G
c.2468T>G (p.Ile823Arg)
c.1823T>G (p.Ile608Arg)
c.2417T>G (p.Ile806Arg)
c.2435T>G (p.Ile812Arg)
c.866T>G (p.Ile289Arg)
c.1277T>G (p.Ile426Arg)
c.2378T>G (p.Ile793Arg)
c.2465T>G (p.Ile822Arg)
c.2396T>G (p.Ile799Arg)
c.1928T>G (p.Ile643Arg)
Xg.41531026A>GCA412989971CASKc.2450T>C (p.Ile817Thr)
c.2447T>C (p.Ile816Thr)
c.2501T>C (p.Ile834Thr)
c.2399T>C (p.Ile800Thr)
c.2504T>C (p.Ile835Thr)
c.1121T>C (p.Ile374Thr)
c.2432T>C (p.Ile811Thr)
c.2363T>C (p.Ile788Thr)
n.1280T>C
c.273T>C
c.2483T>C (p.Ile828Thr)
c.2414T>C (p.Ile805Thr)
c.2486T>C (p.Ile829Thr)
n.2732T>C
c.2468T>C (p.Ile823Thr)
c.1823T>C (p.Ile608Thr)
c.2417T>C (p.Ile806Thr)
c.2435T>C (p.Ile812Thr)
c.866T>C (p.Ile289Thr)
c.1277T>C (p.Ile426Thr)
c.2378T>C (p.Ile793Thr)
c.2465T>C (p.Ile822Thr)
c.2396T>C (p.Ile799Thr)
c.1928T>C (p.Ile643Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41531026A>TCA412989973CASKc.2450T>A (p.Ile817Lys)
c.2447T>A (p.Ile816Lys)
c.2501T>A (p.Ile834Lys)
c.2399T>A (p.Ile800Lys)
c.2504T>A (p.Ile835Lys)
c.1121T>A (p.Ile374Lys)
c.2432T>A (p.Ile811Lys)
c.2363T>A (p.Ile788Lys)
n.1280T>A
c.273T>A
c.2483T>A (p.Ile828Lys)
c.2414T>A (p.Ile805Lys)
c.2486T>A (p.Ile829Lys)
n.2732T>A
c.2468T>A (p.Ile823Lys)
c.1823T>A (p.Ile608Lys)
c.2417T>A (p.Ile806Lys)
c.2435T>A (p.Ile812Lys)
c.866T>A (p.Ile289Lys)
c.1277T>A (p.Ile426Lys)
c.2378T>A (p.Ile793Lys)
c.2465T>A (p.Ile822Lys)
c.2396T>A (p.Ile799Lys)
c.1928T>A (p.Ile643Lys)
Xg.41531027T>ACA412989974CASKc.2449A>T (p.Ile817Leu)
c.2446A>T (p.Ile816Leu)
c.2500A>T (p.Ile834Leu)
c.2398A>T (p.Ile800Leu)
c.2503A>T (p.Ile835Leu)
c.1120A>T (p.Ile374Leu)
c.2431A>T (p.Ile811Leu)
c.2362A>T (p.Ile788Leu)
n.1279A>T
c.272A>T
c.2482A>T (p.Ile828Leu)
c.2413A>T (p.Ile805Leu)
c.2485A>T (p.Ile829Leu)
n.2731A>T
c.2467A>T (p.Ile823Leu)
c.1822A>T (p.Ile608Leu)
c.2416A>T (p.Ile806Leu)
c.2434A>T (p.Ile812Leu)
c.865A>T (p.Ile289Leu)
c.1276A>T (p.Ile426Leu)
c.2377A>T (p.Ile793Leu)
c.2464A>T (p.Ile822Leu)
c.2395A>T (p.Ile799Leu)
c.1927A>T (p.Ile643Leu)
Xg.41531027T>CCA412989975CASKc.2449A>G (p.Ile817Val)
c.2446A>G (p.Ile816Val)
c.2500A>G (p.Ile834Val)
c.2398A>G (p.Ile800Val)
c.2503A>G (p.Ile835Val)
c.1120A>G (p.Ile374Val)
c.2431A>G (p.Ile811Val)
c.2362A>G (p.Ile788Val)
n.1279A>G
c.272A>G
c.2482A>G (p.Ile828Val)
c.2413A>G (p.Ile805Val)
c.2485A>G (p.Ile829Val)
n.2731A>G
c.2467A>G (p.Ile823Val)
c.1822A>G (p.Ile608Val)
c.2416A>G (p.Ile806Val)
c.2434A>G (p.Ile812Val)
c.865A>G (p.Ile289Val)
c.1276A>G (p.Ile426Val)
c.2377A>G (p.Ile793Val)
c.2464A>G (p.Ile822Val)
c.2395A>G (p.Ile799Val)
c.1927A>G (p.Ile643Val)
 gnomAD v4
Xg.41531027T>GCA412989976CASKc.2449A>C (p.Ile817Leu)
c.2446A>C (p.Ile816Leu)
c.2500A>C (p.Ile834Leu)
c.2398A>C (p.Ile800Leu)
c.2503A>C (p.Ile835Leu)
c.1120A>C (p.Ile374Leu)
c.2431A>C (p.Ile811Leu)
c.2362A>C (p.Ile788Leu)
n.1279A>C
c.272A>C
c.2482A>C (p.Ile828Leu)
c.2413A>C (p.Ile805Leu)
c.2485A>C (p.Ile829Leu)
n.2731A>C
c.2467A>C (p.Ile823Leu)
c.1822A>C (p.Ile608Leu)
c.2416A>C (p.Ile806Leu)
c.2434A>C (p.Ile812Leu)
c.865A>C (p.Ile289Leu)
c.1276A>C (p.Ile426Leu)
c.2377A>C (p.Ile793Leu)
c.2464A>C (p.Ile822Leu)
c.2395A>C (p.Ile799Leu)
c.1927A>C (p.Ile643Leu)
Xg.41531028T>ACA516099056CASKc.2448A>T (p.Ala816=)
c.2445A>T (p.Ala815=)
c.2499A>T (p.Ala833=)
c.2397A>T (p.Ala799=)
c.2502A>T (p.Ala834=)
c.1119A>T (p.Ala373=)
c.2430A>T (p.Ala810=)
c.2361A>T (p.Ala787=)
n.1278A>T
c.271A>T
c.2481A>T (p.Ala827=)
c.2412A>T (p.Ala804=)
c.2484A>T (p.Ala828=)
n.2730A>T
c.2466A>T (p.Ala822=)
c.1821A>T (p.Ala607=)
c.2415A>T (p.Ala805=)
c.2433A>T (p.Ala811=)
c.864A>T (p.Ala288=)
c.1275A>T (p.Ala425=)
c.2376A>T (p.Ala792=)
c.2463A>T (p.Ala821=)
c.2394A>T (p.Ala798=)
c.1926A>T (p.Ala642=)
Xg.41531028T>CCA516099058CASKc.2448A>G (p.Ala816=)
c.2445A>G (p.Ala815=)
c.2499A>G (p.Ala833=)
c.2397A>G (p.Ala799=)
c.2502A>G (p.Ala834=)
c.1119A>G (p.Ala373=)
c.2430A>G (p.Ala810=)
c.2361A>G (p.Ala787=)
n.1278A>G
c.271A>G
c.2481A>G (p.Ala827=)
c.2412A>G (p.Ala804=)
c.2484A>G (p.Ala828=)
n.2730A>G
c.2466A>G (p.Ala822=)
c.1821A>G (p.Ala607=)
c.2415A>G (p.Ala805=)
c.2433A>G (p.Ala811=)
c.864A>G (p.Ala288=)
c.1275A>G (p.Ala425=)
c.2376A>G (p.Ala792=)
c.2463A>G (p.Ala821=)
c.2394A>G (p.Ala798=)
c.1926A>G (p.Ala642=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41531028T>GCA516099057CASKc.2448A>C (p.Ala816=)
c.2445A>C (p.Ala815=)
c.2499A>C (p.Ala833=)
c.2397A>C (p.Ala799=)
c.2502A>C (p.Ala834=)
c.1119A>C (p.Ala373=)
c.2430A>C (p.Ala810=)
c.2361A>C (p.Ala787=)
n.1278A>C
c.271A>C
c.2481A>C (p.Ala827=)
c.2412A>C (p.Ala804=)
c.2484A>C (p.Ala828=)
n.2730A>C
c.2466A>C (p.Ala822=)
c.1821A>C (p.Ala607=)
c.2415A>C (p.Ala805=)
c.2433A>C (p.Ala811=)
c.864A>C (p.Ala288=)
c.1275A>C (p.Ala425=)
c.2376A>C (p.Ala792=)
c.2463A>C (p.Ala821=)
c.2394A>C (p.Ala798=)
c.1926A>C (p.Ala642=)
Xg.41531028T=CA2425947672CASKc.2448A= (p.Ala816=)
c.2445A= (p.Ala815=)
c.2499A= (p.Ala833=)
c.2397A= (p.Ala799=)
c.2502A= (p.Ala834=)
c.1119A= (p.Ala373=)
c.2430A= (p.Ala810=)
c.2361A= (p.Ala787=)
n.1278A=
c.271A=
c.2481A= (p.Ala827=)
c.2412A= (p.Ala804=)
c.2484A= (p.Ala828=)
n.2730A=
c.2466A= (p.Ala822=)
c.1821A= (p.Ala607=)
c.2415A= (p.Ala805=)
c.2433A= (p.Ala811=)
c.864A= (p.Ala288=)
c.1275A= (p.Ala425=)
c.2376A= (p.Ala792=)
c.2463A= (p.Ala821=)
c.2394A= (p.Ala798=)
c.1926A= (p.Ala642=)
Xg.41531029G>ACA412989978CASKc.2447C>T (p.Ala816Val)
c.2444C>T (p.Ala815Val)
c.2498C>T (p.Ala833Val)
c.2396C>T (p.Ala799Val)
c.2501C>T (p.Ala834Val)
c.1118C>T (p.Ala373Val)
c.2429C>T (p.Ala810Val)
c.2360C>T (p.Ala787Val)
n.1277C>T
c.270C>T
c.2480C>T (p.Ala827Val)
c.2411C>T (p.Ala804Val)
c.2483C>T (p.Ala828Val)
n.2729C>T
c.2465C>T (p.Ala822Val)
c.1820C>T (p.Ala607Val)
c.2414C>T (p.Ala805Val)
c.2432C>T (p.Ala811Val)
c.863C>T (p.Ala288Val)
c.1274C>T (p.Ala425Val)
c.2375C>T (p.Ala792Val)
c.2462C>T (p.Ala821Val)
c.2393C>T (p.Ala798Val)
c.1925C>T (p.Ala642Val)
 gnomAD v4
Xg.41531029G>CCA412989981CASKc.2447C>G (p.Ala816Gly)
c.2444C>G (p.Ala815Gly)
c.2498C>G (p.Ala833Gly)
c.2396C>G (p.Ala799Gly)
c.2501C>G (p.Ala834Gly)
c.1118C>G (p.Ala373Gly)
c.2429C>G (p.Ala810Gly)
c.2360C>G (p.Ala787Gly)
n.1277C>G
c.270C>G
c.2480C>G (p.Ala827Gly)
c.2411C>G (p.Ala804Gly)
c.2483C>G (p.Ala828Gly)
n.2729C>G
c.2465C>G (p.Ala822Gly)
c.1820C>G (p.Ala607Gly)
c.2414C>G (p.Ala805Gly)
c.2432C>G (p.Ala811Gly)
c.863C>G (p.Ala288Gly)
c.1274C>G (p.Ala425Gly)
c.2375C>G (p.Ala792Gly)
c.2462C>G (p.Ala821Gly)
c.2393C>G (p.Ala798Gly)
c.1925C>G (p.Ala642Gly)
Xg.41531029G>TCA412989979CASKc.2447C>A (p.Ala816Glu)
c.2444C>A (p.Ala815Glu)
c.2498C>A (p.Ala833Glu)
c.2396C>A (p.Ala799Glu)
c.2501C>A (p.Ala834Glu)
c.1118C>A (p.Ala373Glu)
c.2429C>A (p.Ala810Glu)
c.2360C>A (p.Ala787Glu)
n.1277C>A
c.270C>A
c.2480C>A (p.Ala827Glu)
c.2411C>A (p.Ala804Glu)
c.2483C>A (p.Ala828Glu)
n.2729C>A
c.2465C>A (p.Ala822Glu)
c.1820C>A (p.Ala607Glu)
c.2414C>A (p.Ala805Glu)
c.2432C>A (p.Ala811Glu)
c.863C>A (p.Ala288Glu)
c.1274C>A (p.Ala425Glu)
c.2375C>A (p.Ala792Glu)
c.2462C>A (p.Ala821Glu)
c.2393C>A (p.Ala798Glu)
c.1925C>A (p.Ala642Glu)
Xg.41531030delCA2579588849CASKc.2446del (p.Ala816GlnfsTer10)
c.2443del (p.Ala815GlnfsTer10)
c.2497del (p.Ala833GlnfsTer10)
c.2395del (p.Ala799GlnfsTer10)
c.2500del (p.Ala834GlnfsTer10)
c.1117del (p.Ala373GlnfsTer10)
c.2428del (p.Ala810GlnfsTer10)
c.2359del (p.Ala787GlnfsTer10)
n.1276del
c.269del
c.2479del (p.Ala827GlnfsTer10)
c.2410del (p.Ala804GlnfsTer10)
c.2482del (p.Ala828GlnfsTer10)
n.2728del
c.2464del (p.Ala822GlnfsTer19)
c.1819del (p.Ala607GlnfsTer10)
c.2413del (p.Ala805GlnfsTer10)
c.2431del (p.Ala811GlnfsTer10)
c.862del (p.Ala288GlnfsTer10)
c.1273del (p.Ala425GlnfsTer10)
c.2374del (p.Ala792GlnfsTer10)
c.2461del (p.Ala821GlnfsTer10)
c.2392del (p.Ala798GlnfsTer10)
c.1924del (p.Ala642GlnfsTer10)
Xg.41531030C>ACA412989983CASKc.2446G>T (p.Ala816Ser)
c.2443G>T (p.Ala815Ser)
c.2497G>T (p.Ala833Ser)
c.2395G>T (p.Ala799Ser)
c.2500G>T (p.Ala834Ser)
c.1117G>T (p.Ala373Ser)
c.2428G>T (p.Ala810Ser)
c.2359G>T (p.Ala787Ser)
n.1276G>T
c.269G>T
c.2479G>T (p.Ala827Ser)
c.2410G>T (p.Ala804Ser)
c.2482G>T (p.Ala828Ser)
n.2728G>T
c.2464G>T (p.Ala822Ser)
c.1819G>T (p.Ala607Ser)
c.2413G>T (p.Ala805Ser)
c.2431G>T (p.Ala811Ser)
c.862G>T (p.Ala288Ser)
c.1273G>T (p.Ala425Ser)
c.2374G>T (p.Ala792Ser)
c.2461G>T (p.Ala821Ser)
c.2392G>T (p.Ala798Ser)
c.1924G>T (p.Ala642Ser)
Xg.41531030C=CA2425947673CASKc.2446G= (p.Ala816=)
c.2443G= (p.Ala815=)
c.2497G= (p.Ala833=)
c.2395G= (p.Ala799=)
c.2500G= (p.Ala834=)
c.1117G= (p.Ala373=)
c.2428G= (p.Ala810=)
c.2359G= (p.Ala787=)
n.1276G=
c.269G=
c.2479G= (p.Ala827=)
c.2410G= (p.Ala804=)
c.2482G= (p.Ala828=)
n.2728G=
c.2464G= (p.Ala822=)
c.1819G= (p.Ala607=)
c.2413G= (p.Ala805=)
c.2431G= (p.Ala811=)
c.862G= (p.Ala288=)
c.1273G= (p.Ala425=)
c.2374G= (p.Ala792=)
c.2461G= (p.Ala821=)
c.2392G= (p.Ala798=)
c.1924G= (p.Ala642=)
Xg.41531030C>GCA412989985CASKc.2446G>C (p.Ala816Pro)
c.2443G>C (p.Ala815Pro)
c.2497G>C (p.Ala833Pro)
c.2395G>C (p.Ala799Pro)
c.2500G>C (p.Ala834Pro)
c.1117G>C (p.Ala373Pro)
c.2428G>C (p.Ala810Pro)
c.2359G>C (p.Ala787Pro)
n.1276G>C
c.269G>C
c.2479G>C (p.Ala827Pro)
c.2410G>C (p.Ala804Pro)
c.2482G>C (p.Ala828Pro)
n.2728G>C
c.2464G>C (p.Ala822Pro)
c.1819G>C (p.Ala607Pro)
c.2413G>C (p.Ala805Pro)
c.2431G>C (p.Ala811Pro)
c.862G>C (p.Ala288Pro)
c.1273G>C (p.Ala425Pro)
c.2374G>C (p.Ala792Pro)
c.2461G>C (p.Ala821Pro)
c.2392G>C (p.Ala798Pro)
c.1924G>C (p.Ala642Pro)
Xg.41531030C>TCA412989986CASKc.2446G>A (p.Ala816Thr)
c.2443G>A (p.Ala815Thr)
c.2497G>A (p.Ala833Thr)
c.2395G>A (p.Ala799Thr)
c.2500G>A (p.Ala834Thr)
c.1117G>A (p.Ala373Thr)
c.2428G>A (p.Ala810Thr)
c.2359G>A (p.Ala787Thr)
n.1276G>A
c.269G>A
c.2479G>A (p.Ala827Thr)
c.2410G>A (p.Ala804Thr)
c.2482G>A (p.Ala828Thr)
n.2728G>A
c.2464G>A (p.Ala822Thr)
c.1819G>A (p.Ala607Thr)
c.2413G>A (p.Ala805Thr)
c.2431G>A (p.Ala811Thr)
c.862G>A (p.Ala288Thr)
c.1273G>A (p.Ala425Thr)
c.2374G>A (p.Ala792Thr)
c.2461G>A (p.Ala821Thr)
c.2392G>A (p.Ala798Thr)
c.1924G>A (p.Ala642Thr)
 ClinVar dbSNP
Xg.41531031A=CA2425947674CASKc.2445T= (p.Ile815=)
c.2442T= (p.Ile814=)
c.2496T= (p.Ile832=)
c.2394T= (p.Ile798=)
c.2499T= (p.Ile833=)
c.1116T= (p.Ile372=)
c.2427T= (p.Ile809=)
c.2358T= (p.Ile786=)
n.1275T=
c.268T=
c.2478T= (p.Ile826=)
c.2409T= (p.Ile803=)
c.2481T= (p.Ile827=)
n.2727T=
c.2463T= (p.Ile821=)
c.1818T= (p.Ile606=)
c.2412T= (p.Ile804=)
c.2430T= (p.Ile810=)
c.861T= (p.Ile287=)
c.1272T= (p.Ile424=)
c.2373T= (p.Ile791=)
c.2460T= (p.Ile820=)
c.2391T= (p.Ile797=)
c.1923T= (p.Ile641=)
Xg.41531031A>CCA412989988CASKc.2445T>G (p.Ile815Met)
c.2442T>G (p.Ile814Met)
c.2496T>G (p.Ile832Met)
c.2394T>G (p.Ile798Met)
c.2499T>G (p.Ile833Met)
c.1116T>G (p.Ile372Met)
c.2427T>G (p.Ile809Met)
c.2358T>G (p.Ile786Met)
n.1275T>G
c.268T>G
c.2478T>G (p.Ile826Met)
c.2409T>G (p.Ile803Met)
c.2481T>G (p.Ile827Met)
n.2727T>G
c.2463T>G (p.Ile821Met)
c.1818T>G (p.Ile606Met)
c.2412T>G (p.Ile804Met)
c.2430T>G (p.Ile810Met)
c.861T>G (p.Ile287Met)
c.1272T>G (p.Ile424Met)
c.2373T>G (p.Ile791Met)
c.2460T>G (p.Ile820Met)
c.2391T>G (p.Ile797Met)
c.1923T>G (p.Ile641Met)
 dbSNP
Xg.41531031A>GCA516099060CASKc.2445T>C (p.Ile815=)
c.2442T>C (p.Ile814=)
c.2496T>C (p.Ile832=)
c.2394T>C (p.Ile798=)
c.2499T>C (p.Ile833=)
c.1116T>C (p.Ile372=)
c.2427T>C (p.Ile809=)
c.2358T>C (p.Ile786=)
n.1275T>C
c.268T>C
c.2478T>C (p.Ile826=)
c.2409T>C (p.Ile803=)
c.2481T>C (p.Ile827=)
n.2727T>C
c.2463T>C (p.Ile821=)
c.1818T>C (p.Ile606=)
c.2412T>C (p.Ile804=)
c.2430T>C (p.Ile810=)
c.861T>C (p.Ile287=)
c.1272T>C (p.Ile424=)
c.2373T>C (p.Ile791=)
c.2460T>C (p.Ile820=)
c.2391T>C (p.Ile797=)
c.1923T>C (p.Ile641=)
Xg.41531031A>TCA516099059CASKc.2445T>A (p.Ile815=)
c.2442T>A (p.Ile814=)
c.2496T>A (p.Ile832=)
c.2394T>A (p.Ile798=)
c.2499T>A (p.Ile833=)
c.1116T>A (p.Ile372=)
c.2427T>A (p.Ile809=)
c.2358T>A (p.Ile786=)
n.1275T>A
c.268T>A
c.2478T>A (p.Ile826=)
c.2409T>A (p.Ile803=)
c.2481T>A (p.Ile827=)
n.2727T>A
c.2463T>A (p.Ile821=)
c.1818T>A (p.Ile606=)
c.2412T>A (p.Ile804=)
c.2430T>A (p.Ile810=)
c.861T>A (p.Ile287=)
c.1272T>A (p.Ile424=)
c.2373T>A (p.Ile791=)
c.2460T>A (p.Ile820=)
c.2391T>A (p.Ile797=)
c.1923T>A (p.Ile641=)
Xg.41531032A>CCA412989990CASKc.2444T>G (p.Ile815Ser)
c.2441T>G (p.Ile814Ser)
c.2495T>G (p.Ile832Ser)
c.2393T>G (p.Ile798Ser)
c.2498T>G (p.Ile833Ser)
c.1115T>G (p.Ile372Ser)
c.2426T>G (p.Ile809Ser)
c.2357T>G (p.Ile786Ser)
n.1274T>G
c.267T>G
c.2477T>G (p.Ile826Ser)
c.2408T>G (p.Ile803Ser)
c.2480T>G (p.Ile827Ser)
n.2726T>G
c.2462T>G (p.Ile821Ser)
c.1817T>G (p.Ile606Ser)
c.2411T>G (p.Ile804Ser)
c.2429T>G (p.Ile810Ser)
c.860T>G (p.Ile287Ser)
c.1271T>G (p.Ile424Ser)
c.2372T>G (p.Ile791Ser)
c.2459T>G (p.Ile820Ser)
c.2390T>G (p.Ile797Ser)
c.1922T>G (p.Ile641Ser)
Xg.41531032A>GCA412989991CASKc.2444T>C (p.Ile815Thr)
c.2441T>C (p.Ile814Thr)
c.2495T>C (p.Ile832Thr)
c.2393T>C (p.Ile798Thr)
c.2498T>C (p.Ile833Thr)
c.1115T>C (p.Ile372Thr)
c.2426T>C (p.Ile809Thr)
c.2357T>C (p.Ile786Thr)
n.1274T>C
c.267T>C
c.2477T>C (p.Ile826Thr)
c.2408T>C (p.Ile803Thr)
c.2480T>C (p.Ile827Thr)
n.2726T>C
c.2462T>C (p.Ile821Thr)
c.1817T>C (p.Ile606Thr)
c.2411T>C (p.Ile804Thr)
c.2429T>C (p.Ile810Thr)
c.860T>C (p.Ile287Thr)
c.1271T>C (p.Ile424Thr)
c.2372T>C (p.Ile791Thr)
c.2459T>C (p.Ile820Thr)
c.2390T>C (p.Ile797Thr)
c.1922T>C (p.Ile641Thr)
Xg.41531032A>TCA412989993CASKc.2444T>A (p.Ile815Asn)
c.2441T>A (p.Ile814Asn)
c.2495T>A (p.Ile832Asn)
c.2393T>A (p.Ile798Asn)
c.2498T>A (p.Ile833Asn)
c.1115T>A (p.Ile372Asn)
c.2426T>A (p.Ile809Asn)
c.2357T>A (p.Ile786Asn)
n.1274T>A
c.267T>A
c.2477T>A (p.Ile826Asn)
c.2408T>A (p.Ile803Asn)
c.2480T>A (p.Ile827Asn)
n.2726T>A
c.2462T>A (p.Ile821Asn)
c.1817T>A (p.Ile606Asn)
c.2411T>A (p.Ile804Asn)
c.2429T>A (p.Ile810Asn)
c.860T>A (p.Ile287Asn)
c.1271T>A (p.Ile424Asn)
c.2372T>A (p.Ile791Asn)
c.2459T>A (p.Ile820Asn)
c.2390T>A (p.Ile797Asn)
c.1922T>A (p.Ile641Asn)
Xg.41531033T>ACA412989995CASKc.2443A>T (p.Ile815Phe)
c.2440A>T (p.Ile814Phe)
c.2494A>T (p.Ile832Phe)
c.2392A>T (p.Ile798Phe)
c.2497A>T (p.Ile833Phe)
c.1114A>T (p.Ile372Phe)
c.2425A>T (p.Ile809Phe)
c.2356A>T (p.Ile786Phe)
n.1273A>T
c.266A>T
c.2476A>T (p.Ile826Phe)
c.2407A>T (p.Ile803Phe)
c.2479A>T (p.Ile827Phe)
n.2725A>T
c.2461A>T (p.Ile821Phe)
c.1816A>T (p.Ile606Phe)
c.2410A>T (p.Ile804Phe)
c.2428A>T (p.Ile810Phe)
c.859A>T (p.Ile287Phe)
c.1270A>T (p.Ile424Phe)
c.2371A>T (p.Ile791Phe)
c.2458A>T (p.Ile820Phe)
c.2389A>T (p.Ile797Phe)
c.1921A>T (p.Ile641Phe)
Xg.41531033T>CCA412989996CASKc.2443A>G (p.Ile815Val)
c.2440A>G (p.Ile814Val)
c.2494A>G (p.Ile832Val)
c.2392A>G (p.Ile798Val)
c.2497A>G (p.Ile833Val)
c.1114A>G (p.Ile372Val)
c.2425A>G (p.Ile809Val)
c.2356A>G (p.Ile786Val)
n.1273A>G
c.266A>G
c.2476A>G (p.Ile826Val)
c.2407A>G (p.Ile803Val)
c.2479A>G (p.Ile827Val)
n.2725A>G
c.2461A>G (p.Ile821Val)
c.1816A>G (p.Ile606Val)
c.2410A>G (p.Ile804Val)
c.2428A>G (p.Ile810Val)
c.859A>G (p.Ile287Val)
c.1270A>G (p.Ile424Val)
c.2371A>G (p.Ile791Val)
c.2458A>G (p.Ile820Val)
c.2389A>G (p.Ile797Val)
c.1921A>G (p.Ile641Val)
Xg.41531033T>GCA412989998CASKc.2443A>C (p.Ile815Leu)
c.2440A>C (p.Ile814Leu)
c.2494A>C (p.Ile832Leu)
c.2392A>C (p.Ile798Leu)
c.2497A>C (p.Ile833Leu)
c.1114A>C (p.Ile372Leu)
c.2425A>C (p.Ile809Leu)
c.2356A>C (p.Ile786Leu)
n.1273A>C
c.266A>C
c.2476A>C (p.Ile826Leu)
c.2407A>C (p.Ile803Leu)
c.2479A>C (p.Ile827Leu)
n.2725A>C
c.2461A>C (p.Ile821Leu)
c.1816A>C (p.Ile606Leu)
c.2410A>C (p.Ile804Leu)
c.2428A>C (p.Ile810Leu)
c.859A>C (p.Ile287Leu)
c.1270A>C (p.Ile424Leu)
c.2371A>C (p.Ile791Leu)
c.2458A>C (p.Ile820Leu)
c.2389A>C (p.Ile797Leu)
c.1921A>C (p.Ile641Leu)
Xg.41531034C>ACA516099061CASKc.2442G>T (p.Leu814=)
c.2439G>T (p.Leu813=)
c.2493G>T (p.Leu831=)
c.2391G>T (p.Leu797=)
c.2496G>T (p.Leu832=)
c.1113G>T (p.Leu371=)
c.2424G>T (p.Leu808=)
c.2355G>T (p.Leu785=)
n.1272G>T
c.265G>T
c.2475G>T (p.Leu825=)
c.2406G>T (p.Leu802=)
c.2478G>T (p.Leu826=)
n.2724G>T
c.2460G>T (p.Leu820=)
c.1815G>T (p.Leu605=)
c.2409G>T (p.Leu803=)
c.2427G>T (p.Leu809=)
c.858G>T (p.Leu286=)
c.1269G>T (p.Leu423=)
c.2370G>T (p.Leu790=)
c.2457G>T (p.Leu819=)
c.2388G>T (p.Leu796=)
c.1920G>T (p.Leu640=)
Xg.41531034C>GCA516099063CASKc.2442G>C (p.Leu814=)
c.2439G>C (p.Leu813=)
c.2493G>C (p.Leu831=)
c.2391G>C (p.Leu797=)
c.2496G>C (p.Leu832=)
c.1113G>C (p.Leu371=)
c.2424G>C (p.Leu808=)
c.2355G>C (p.Leu785=)
n.1272G>C
c.265G>C
c.2475G>C (p.Leu825=)
c.2406G>C (p.Leu802=)
c.2478G>C (p.Leu826=)
n.2724G>C
c.2460G>C (p.Leu820=)
c.1815G>C (p.Leu605=)
c.2409G>C (p.Leu803=)
c.2427G>C (p.Leu809=)
c.858G>C (p.Leu286=)
c.1269G>C (p.Leu423=)
c.2370G>C (p.Leu790=)
c.2457G>C (p.Leu819=)
c.2388G>C (p.Leu796=)
c.1920G>C (p.Leu640=)
Xg.41531034C>TCA516099062CASKc.2442G>A (p.Leu814=)
c.2439G>A (p.Leu813=)
c.2493G>A (p.Leu831=)
c.2391G>A (p.Leu797=)
c.2496G>A (p.Leu832=)
c.1113G>A (p.Leu371=)
c.2424G>A (p.Leu808=)
c.2355G>A (p.Leu785=)
n.1272G>A
c.265G>A
c.2475G>A (p.Leu825=)
c.2406G>A (p.Leu802=)
c.2478G>A (p.Leu826=)
n.2724G>A
c.2460G>A (p.Leu820=)
c.1815G>A (p.Leu605=)
c.2409G>A (p.Leu803=)
c.2427G>A (p.Leu809=)
c.858G>A (p.Leu286=)
c.1269G>A (p.Leu423=)
c.2370G>A (p.Leu790=)
c.2457G>A (p.Leu819=)
c.2388G>A (p.Leu796=)
c.1920G>A (p.Leu640=)
Xg.41531035A>CCA412990000CASKc.2441T>G (p.Leu814Arg)
c.2438T>G (p.Leu813Arg)
c.2492T>G (p.Leu831Arg)
c.2390T>G (p.Leu797Arg)
c.2495T>G (p.Leu832Arg)
c.1112T>G (p.Leu371Arg)
c.2423T>G (p.Leu808Arg)
c.2354T>G (p.Leu785Arg)
n.1271T>G
c.264T>G
c.2474T>G (p.Leu825Arg)
c.2405T>G (p.Leu802Arg)
c.2477T>G (p.Leu826Arg)
n.2723T>G
c.2459T>G (p.Leu820Arg)
c.1814T>G (p.Leu605Arg)
c.2408T>G (p.Leu803Arg)
c.2426T>G (p.Leu809Arg)
c.857T>G (p.Leu286Arg)
c.1268T>G (p.Leu423Arg)
c.2369T>G (p.Leu790Arg)
c.2456T>G (p.Leu819Arg)
c.2387T>G (p.Leu796Arg)
c.1919T>G (p.Leu640Arg)
Xg.41531035A>GCA412990002CASKc.2441T>C (p.Leu814Pro)
c.2438T>C (p.Leu813Pro)
c.2492T>C (p.Leu831Pro)
c.2390T>C (p.Leu797Pro)
c.2495T>C (p.Leu832Pro)
c.1112T>C (p.Leu371Pro)
c.2423T>C (p.Leu808Pro)
c.2354T>C (p.Leu785Pro)
n.1271T>C
c.264T>C
c.2474T>C (p.Leu825Pro)
c.2405T>C (p.Leu802Pro)
c.2477T>C (p.Leu826Pro)
n.2723T>C
c.2459T>C (p.Leu820Pro)
c.1814T>C (p.Leu605Pro)
c.2408T>C (p.Leu803Pro)
c.2426T>C (p.Leu809Pro)
c.857T>C (p.Leu286Pro)
c.1268T>C (p.Leu423Pro)
c.2369T>C (p.Leu790Pro)
c.2456T>C (p.Leu819Pro)
c.2387T>C (p.Leu796Pro)
c.1919T>C (p.Leu640Pro)
Xg.41531035A>TCA412990003CASKc.2441T>A (p.Leu814Gln)
c.2438T>A (p.Leu813Gln)
c.2492T>A (p.Leu831Gln)
c.2390T>A (p.Leu797Gln)
c.2495T>A (p.Leu832Gln)
c.1112T>A (p.Leu371Gln)
c.2423T>A (p.Leu808Gln)
c.2354T>A (p.Leu785Gln)
n.1271T>A
c.264T>A
c.2474T>A (p.Leu825Gln)
c.2405T>A (p.Leu802Gln)
c.2477T>A (p.Leu826Gln)
n.2723T>A
c.2459T>A (p.Leu820Gln)
c.1814T>A (p.Leu605Gln)
c.2408T>A (p.Leu803Gln)
c.2426T>A (p.Leu809Gln)
c.857T>A (p.Leu286Gln)
c.1268T>A (p.Leu423Gln)
c.2369T>A (p.Leu790Gln)
c.2456T>A (p.Leu819Gln)
c.2387T>A (p.Leu796Gln)
c.1919T>A (p.Leu640Gln)
Xg.41531036G>ACA516099064CASKc.2440C>T (p.Leu814=)
c.2437C>T (p.Leu813=)
c.2491C>T (p.Leu831=)
c.2389C>T (p.Leu797=)
c.2494C>T (p.Leu832=)
c.1111C>T (p.Leu371=)
c.2422C>T (p.Leu808=)
c.2353C>T (p.Leu785=)
n.1270C>T
c.263C>T
c.2473C>T (p.Leu825=)
c.2404C>T (p.Leu802=)
c.2476C>T (p.Leu826=)
n.2722C>T
c.2458C>T (p.Leu820=)
c.1813C>T (p.Leu605=)
c.2407C>T (p.Leu803=)
c.2425C>T (p.Leu809=)
c.856C>T (p.Leu286=)
c.1267C>T (p.Leu423=)
c.2368C>T (p.Leu790=)
c.2455C>T (p.Leu819=)
c.2386C>T (p.Leu796=)
c.1918C>T (p.Leu640=)
Xg.41531036G>CCA412990006CASKc.2440C>G (p.Leu814Val)
c.2437C>G (p.Leu813Val)
c.2491C>G (p.Leu831Val)
c.2389C>G (p.Leu797Val)
c.2494C>G (p.Leu832Val)
c.1111C>G (p.Leu371Val)
c.2422C>G (p.Leu808Val)
c.2353C>G (p.Leu785Val)
n.1270C>G
c.263C>G
c.2473C>G (p.Leu825Val)
c.2404C>G (p.Leu802Val)
c.2476C>G (p.Leu826Val)
n.2722C>G
c.2458C>G (p.Leu820Val)
c.1813C>G (p.Leu605Val)
c.2407C>G (p.Leu803Val)
c.2425C>G (p.Leu809Val)
c.856C>G (p.Leu286Val)
c.1267C>G (p.Leu423Val)
c.2368C>G (p.Leu790Val)
c.2455C>G (p.Leu819Val)
c.2386C>G (p.Leu796Val)
c.1918C>G (p.Leu640Val)
Xg.41531036G>TCA412990007CASKc.2440C>A (p.Leu814Met)
c.2437C>A (p.Leu813Met)
c.2491C>A (p.Leu831Met)
c.2389C>A (p.Leu797Met)
c.2494C>A (p.Leu832Met)
c.1111C>A (p.Leu371Met)
c.2422C>A (p.Leu808Met)
c.2353C>A (p.Leu785Met)
n.1270C>A
c.263C>A
c.2473C>A (p.Leu825Met)
c.2404C>A (p.Leu802Met)
c.2476C>A (p.Leu826Met)
n.2722C>A
c.2458C>A (p.Leu820Met)
c.1813C>A (p.Leu605Met)
c.2407C>A (p.Leu803Met)
c.2425C>A (p.Leu809Met)
c.856C>A (p.Leu286Met)
c.1267C>A (p.Leu423Met)
c.2368C>A (p.Leu790Met)
c.2455C>A (p.Leu819Met)
c.2386C>A (p.Leu796Met)
c.1918C>A (p.Leu640Met)
Xg.41531037C>ACA516099065CASKc.2439G>T (p.Gly813=)
c.2436G>T (p.Gly812=)
c.2490G>T (p.Gly830=)
c.2388G>T (p.Gly796=)
c.2493G>T (p.Gly831=)
c.1110G>T (p.Gly370=)
c.2421G>T (p.Gly807=)
c.2352G>T (p.Gly784=)
n.1269G>T
c.262G>T
c.2472G>T (p.Gly824=)
c.2403G>T (p.Gly801=)
c.2475G>T (p.Gly825=)
n.2721G>T
c.2457G>T (p.Gly819=)
c.1812G>T (p.Gly604=)
c.2406G>T (p.Gly802=)
c.2424G>T (p.Gly808=)
c.855G>T (p.Gly285=)
c.1266G>T (p.Gly422=)
c.2367G>T (p.Gly789=)
c.2454G>T (p.Gly818=)
c.2385G>T (p.Gly795=)
c.1917G>T (p.Gly639=)
Xg.41531037C=CA2425947675CASKc.2439G= (p.Gly813=)
c.2436G= (p.Gly812=)
c.2490G= (p.Gly830=)
c.2388G= (p.Gly796=)
c.2493G= (p.Gly831=)
c.1110G= (p.Gly370=)
c.2421G= (p.Gly807=)
c.2352G= (p.Gly784=)
n.1269G=
c.262G=
c.2472G= (p.Gly824=)
c.2403G= (p.Gly801=)
c.2475G= (p.Gly825=)
n.2721G=
c.2457G= (p.Gly819=)
c.1812G= (p.Gly604=)
c.2406G= (p.Gly802=)
c.2424G= (p.Gly808=)
c.855G= (p.Gly285=)
c.1266G= (p.Gly422=)
c.2367G= (p.Gly789=)
c.2454G= (p.Gly818=)
c.2385G= (p.Gly795=)
c.1917G= (p.Gly639=)
Xg.41531037C>GCA516099066CASKc.2439G>C (p.Gly813=)
c.2436G>C (p.Gly812=)
c.2490G>C (p.Gly830=)
c.2388G>C (p.Gly796=)
c.2493G>C (p.Gly831=)
c.1110G>C (p.Gly370=)
c.2421G>C (p.Gly807=)
c.2352G>C (p.Gly784=)
n.1269G>C
c.262G>C
c.2472G>C (p.Gly824=)
c.2403G>C (p.Gly801=)
c.2475G>C (p.Gly825=)
n.2721G>C
c.2457G>C (p.Gly819=)
c.1812G>C (p.Gly604=)
c.2406G>C (p.Gly802=)
c.2424G>C (p.Gly808=)
c.855G>C (p.Gly285=)
c.1266G>C (p.Gly422=)
c.2367G>C (p.Gly789=)
c.2454G>C (p.Gly818=)
c.2385G>C (p.Gly795=)
c.1917G>C (p.Gly639=)
Xg.41531037C>TCA516099067CASKc.2439G>A (p.Gly813=)
c.2436G>A (p.Gly812=)
c.2490G>A (p.Gly830=)
c.2388G>A (p.Gly796=)
c.2493G>A (p.Gly831=)
c.1110G>A (p.Gly370=)
c.2421G>A (p.Gly807=)
c.2352G>A (p.Gly784=)
n.1269G>A
c.262G>A
c.2472G>A (p.Gly824=)
c.2403G>A (p.Gly801=)
c.2475G>A (p.Gly825=)
n.2721G>A
c.2457G>A (p.Gly819=)
c.1812G>A (p.Gly604=)
c.2406G>A (p.Gly802=)
c.2424G>A (p.Gly808=)
c.855G>A (p.Gly285=)
c.1266G>A (p.Gly422=)
c.2367G>A (p.Gly789=)
c.2454G>A (p.Gly818=)
c.2385G>A (p.Gly795=)
c.1917G>A (p.Gly639=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41531038C>ACA412990009CASKc.2438G>T (p.Gly813Val)
c.2435G>T (p.Gly812Val)
c.2489G>T (p.Gly830Val)
c.2387G>T (p.Gly796Val)
c.2492G>T (p.Gly831Val)
c.1109G>T (p.Gly370Val)
c.2420G>T (p.Gly807Val)
c.2351G>T (p.Gly784Val)
n.1268G>T
c.261G>T
c.2471G>T (p.Gly824Val)
c.2402G>T (p.Gly801Val)
c.2474G>T (p.Gly825Val)
n.2720G>T
c.2456G>T (p.Gly819Val)
c.1811G>T (p.Gly604Val)
c.2405G>T (p.Gly802Val)
c.2423G>T (p.Gly808Val)
c.854G>T (p.Gly285Val)
c.1265G>T (p.Gly422Val)
c.2366G>T (p.Gly789Val)
c.2453G>T (p.Gly818Val)
c.2384G>T (p.Gly795Val)
c.1916G>T (p.Gly639Val)
Xg.41531038C=CA2425947676CASKc.2438G= (p.Gly813=)
c.2435G= (p.Gly812=)
c.2489G= (p.Gly830=)
c.2387G= (p.Gly796=)
c.2492G= (p.Gly831=)
c.1109G= (p.Gly370=)
c.2420G= (p.Gly807=)
c.2351G= (p.Gly784=)
n.1268G=
c.261G=
c.2471G= (p.Gly824=)
c.2402G= (p.Gly801=)
c.2474G= (p.Gly825=)
n.2720G=
c.2456G= (p.Gly819=)
c.1811G= (p.Gly604=)
c.2405G= (p.Gly802=)
c.2423G= (p.Gly808=)
c.854G= (p.Gly285=)
c.1265G= (p.Gly422=)
c.2366G= (p.Gly789=)
c.2453G= (p.Gly818=)
c.2384G= (p.Gly795=)
c.1916G= (p.Gly639=)
Xg.41531038C>GCA412990010CASKc.2438G>C (p.Gly813Ala)
c.2435G>C (p.Gly812Ala)
c.2489G>C (p.Gly830Ala)
c.2387G>C (p.Gly796Ala)
c.2492G>C (p.Gly831Ala)
c.1109G>C (p.Gly370Ala)
c.2420G>C (p.Gly807Ala)
c.2351G>C (p.Gly784Ala)
n.1268G>C
c.261G>C
c.2471G>C (p.Gly824Ala)
c.2402G>C (p.Gly801Ala)
c.2474G>C (p.Gly825Ala)
n.2720G>C
c.2456G>C (p.Gly819Ala)
c.1811G>C (p.Gly604Ala)
c.2405G>C (p.Gly802Ala)
c.2423G>C (p.Gly808Ala)
c.854G>C (p.Gly285Ala)
c.1265G>C (p.Gly422Ala)
c.2366G>C (p.Gly789Ala)
c.2453G>C (p.Gly818Ala)
c.2384G>C (p.Gly795Ala)
c.1916G>C (p.Gly639Ala)
Xg.41531038C>TCA10390015CASKc.2438G>A (p.Gly813Glu)
c.2435G>A (p.Gly812Glu)
c.2489G>A (p.Gly830Glu)
c.2387G>A (p.Gly796Glu)
c.2492G>A (p.Gly831Glu)
c.1109G>A (p.Gly370Glu)
c.2420G>A (p.Gly807Glu)
c.2351G>A (p.Gly784Glu)
n.1268G>A
c.261G>A
c.2471G>A (p.Gly824Glu)
c.2402G>A (p.Gly801Glu)
c.2474G>A (p.Gly825Glu)
n.2720G>A
c.2456G>A (p.Gly819Glu)
c.1811G>A (p.Gly604Glu)
c.2405G>A (p.Gly802Glu)
c.2423G>A (p.Gly808Glu)
c.854G>A (p.Gly285Glu)
c.1265G>A (p.Gly422Glu)
c.2366G>A (p.Gly789Glu)
c.2453G>A (p.Gly818Glu)
c.2384G>A (p.Gly795Glu)
c.1916G>A (p.Gly639Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531039C>ACA412990013CASKc.2437G>T (p.Gly813Trp)
c.2434G>T (p.Gly812Trp)
c.2488G>T (p.Gly830Trp)
c.2386G>T (p.Gly796Trp)
c.2491G>T (p.Gly831Trp)
c.1108G>T (p.Gly370Trp)
c.2419G>T (p.Gly807Trp)
c.2350G>T (p.Gly784Trp)
n.1267G>T
c.260G>T
c.2470G>T (p.Gly824Trp)
c.2401G>T (p.Gly801Trp)
c.2473G>T (p.Gly825Trp)
n.2719G>T
c.2455G>T (p.Gly819Trp)
c.1810G>T (p.Gly604Trp)
c.2404G>T (p.Gly802Trp)
c.2422G>T (p.Gly808Trp)
c.853G>T (p.Gly285Trp)
c.1264G>T (p.Gly422Trp)
c.2365G>T (p.Gly789Trp)
c.2452G>T (p.Gly818Trp)
c.2383G>T (p.Gly795Trp)
c.1915G>T (p.Gly639Trp)
Xg.41531039C>GCA412990014CASKc.2437G>C (p.Gly813Arg)
c.2434G>C (p.Gly812Arg)
c.2488G>C (p.Gly830Arg)
c.2386G>C (p.Gly796Arg)
c.2491G>C (p.Gly831Arg)
c.1108G>C (p.Gly370Arg)
c.2419G>C (p.Gly807Arg)
c.2350G>C (p.Gly784Arg)
n.1267G>C
c.260G>C
c.2470G>C (p.Gly824Arg)
c.2401G>C (p.Gly801Arg)
c.2473G>C (p.Gly825Arg)
n.2719G>C
c.2455G>C (p.Gly819Arg)
c.1810G>C (p.Gly604Arg)
c.2404G>C (p.Gly802Arg)
c.2422G>C (p.Gly808Arg)
c.853G>C (p.Gly285Arg)
c.1264G>C (p.Gly422Arg)
c.2365G>C (p.Gly789Arg)
c.2452G>C (p.Gly818Arg)
c.2383G>C (p.Gly795Arg)
c.1915G>C (p.Gly639Arg)
Xg.41531039C>TCA412990017CASKc.2437G>A (p.Gly813Arg)
c.2434G>A (p.Gly812Arg)
c.2488G>A (p.Gly830Arg)
c.2386G>A (p.Gly796Arg)
c.2491G>A (p.Gly831Arg)
c.1108G>A (p.Gly370Arg)
c.2419G>A (p.Gly807Arg)
c.2350G>A (p.Gly784Arg)
n.1267G>A
c.260G>A
c.2470G>A (p.Gly824Arg)
c.2401G>A (p.Gly801Arg)
c.2473G>A (p.Gly825Arg)
n.2719G>A
c.2455G>A (p.Gly819Arg)
c.1810G>A (p.Gly604Arg)
c.2404G>A (p.Gly802Arg)
c.2422G>A (p.Gly808Arg)
c.853G>A (p.Gly285Arg)
c.1264G>A (p.Gly422Arg)
c.2365G>A (p.Gly789Arg)
c.2452G>A (p.Gly818Arg)
c.2383G>A (p.Gly795Arg)
c.1915G>A (p.Gly639Arg)
 gnomAD v4
Xg.41531040C>ACA412990019CASKc.2436G>T (p.Gln812His)
c.2433G>T (p.Gln811His)
c.2487G>T (p.Gln829His)
c.2385G>T (p.Gln795His)
c.2490G>T (p.Gln830His)
c.1107G>T (p.Gln369His)
c.2418G>T (p.Gln806His)
c.2349G>T (p.Gln783His)
n.1266G>T
c.259G>T
c.2469G>T (p.Gln823His)
c.2400G>T (p.Gln800His)
c.2472G>T (p.Gln824His)
n.2718G>T
c.2454G>T (p.Gln818His)
c.1809G>T (p.Gln603His)
c.2403G>T (p.Gln801His)
c.2421G>T (p.Gln807His)
c.852G>T (p.Gln284His)
c.1263G>T (p.Gln421His)
c.2364G>T (p.Gln788His)
c.2451G>T (p.Gln817His)
c.2382G>T (p.Gln794His)
c.1914G>T (p.Gln638His)
Xg.41531040C=CA2425947677CASKc.2436G= (p.Gln812=)
c.2433G= (p.Gln811=)
c.2487G= (p.Gln829=)
c.2385G= (p.Gln795=)
c.2490G= (p.Gln830=)
c.1107G= (p.Gln369=)
c.2418G= (p.Gln806=)
c.2349G= (p.Gln783=)
n.1266G=
c.259G=
c.2469G= (p.Gln823=)
c.2400G= (p.Gln800=)
c.2472G= (p.Gln824=)
n.2718G=
c.2454G= (p.Gln818=)
c.1809G= (p.Gln603=)
c.2403G= (p.Gln801=)
c.2421G= (p.Gln807=)
c.852G= (p.Gln284=)
c.1263G= (p.Gln421=)
c.2364G= (p.Gln788=)
c.2451G= (p.Gln817=)
c.2382G= (p.Gln794=)
c.1914G= (p.Gln638=)
Xg.41531040C>GCA412990020CASKc.2436G>C (p.Gln812His)
c.2433G>C (p.Gln811His)
c.2487G>C (p.Gln829His)
c.2385G>C (p.Gln795His)
c.2490G>C (p.Gln830His)
c.1107G>C (p.Gln369His)
c.2418G>C (p.Gln806His)
c.2349G>C (p.Gln783His)
n.1266G>C
c.259G>C
c.2469G>C (p.Gln823His)
c.2400G>C (p.Gln800His)
c.2472G>C (p.Gln824His)
n.2718G>C
c.2454G>C (p.Gln818His)
c.1809G>C (p.Gln603His)
c.2403G>C (p.Gln801His)
c.2421G>C (p.Gln807His)
c.852G>C (p.Gln284His)
c.1263G>C (p.Gln421His)
c.2364G>C (p.Gln788His)
c.2451G>C (p.Gln817His)
c.2382G>C (p.Gln794His)
c.1914G>C (p.Gln638His)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531040C>TCA516099068CASKc.2436G>A (p.Gln812=)
c.2433G>A (p.Gln811=)
c.2487G>A (p.Gln829=)
c.2385G>A (p.Gln795=)
c.2490G>A (p.Gln830=)
c.1107G>A (p.Gln369=)
c.2418G>A (p.Gln806=)
c.2349G>A (p.Gln783=)
n.1266G>A
c.259G>A
c.2469G>A (p.Gln823=)
c.2400G>A (p.Gln800=)
c.2472G>A (p.Gln824=)
n.2718G>A
c.2454G>A (p.Gln818=)
c.1809G>A (p.Gln603=)
c.2403G>A (p.Gln801=)
c.2421G>A (p.Gln807=)
c.852G>A (p.Gln284=)
c.1263G>A (p.Gln421=)
c.2364G>A (p.Gln788=)
c.2451G>A (p.Gln817=)
c.2382G>A (p.Gln794=)
c.1914G>A (p.Gln638=)
Xg.41531041T>ACA412990023CASKc.2435A>T (p.Gln812Leu)
c.2432A>T (p.Gln811Leu)
c.2486A>T (p.Gln829Leu)
c.2384A>T (p.Gln795Leu)
c.2489A>T (p.Gln830Leu)
c.1106A>T (p.Gln369Leu)
c.2417A>T (p.Gln806Leu)
c.2348A>T (p.Gln783Leu)
n.1265A>T
c.258A>T
c.2468A>T (p.Gln823Leu)
c.2399A>T (p.Gln800Leu)
c.2471A>T (p.Gln824Leu)
n.2717A>T
c.2453A>T (p.Gln818Leu)
c.1808A>T (p.Gln603Leu)
c.2402A>T (p.Gln801Leu)
c.2420A>T (p.Gln807Leu)
c.851A>T (p.Gln284Leu)
c.1262A>T (p.Gln421Leu)
c.2363A>T (p.Gln788Leu)
c.2450A>T (p.Gln817Leu)
c.2381A>T (p.Gln794Leu)
c.1913A>T (p.Gln638Leu)
Xg.41531041T>CCA204679CASKc.2435A>G (p.Gln812Arg)
c.2432A>G (p.Gln811Arg)
c.2486A>G (p.Gln829Arg)
c.2384A>G (p.Gln795Arg)
c.2489A>G (p.Gln830Arg)
c.1106A>G (p.Gln369Arg)
c.2417A>G (p.Gln806Arg)
c.2348A>G (p.Gln783Arg)
n.1265A>G
c.258A>G
c.2468A>G (p.Gln823Arg)
c.2399A>G (p.Gln800Arg)
c.2471A>G (p.Gln824Arg)
n.2717A>G
c.2453A>G (p.Gln818Arg)
c.1808A>G (p.Gln603Arg)
c.2402A>G (p.Gln801Arg)
c.2420A>G (p.Gln807Arg)
c.851A>G (p.Gln284Arg)
c.1262A>G (p.Gln421Arg)
c.2363A>G (p.Gln788Arg)
c.2450A>G (p.Gln817Arg)
c.2381A>G (p.Gln794Arg)
c.1913A>G (p.Gln638Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531041T>GCA412990024CASKc.2435A>C (p.Gln812Pro)
c.2432A>C (p.Gln811Pro)
c.2486A>C (p.Gln829Pro)
c.2384A>C (p.Gln795Pro)
c.2489A>C (p.Gln830Pro)
c.1106A>C (p.Gln369Pro)
c.2417A>C (p.Gln806Pro)
c.2348A>C (p.Gln783Pro)
n.1265A>C
c.258A>C
c.2468A>C (p.Gln823Pro)
c.2399A>C (p.Gln800Pro)
c.2471A>C (p.Gln824Pro)
n.2717A>C
c.2453A>C (p.Gln818Pro)
c.1808A>C (p.Gln603Pro)
c.2402A>C (p.Gln801Pro)
c.2420A>C (p.Gln807Pro)
c.851A>C (p.Gln284Pro)
c.1262A>C (p.Gln421Pro)
c.2363A>C (p.Gln788Pro)
c.2450A>C (p.Gln817Pro)
c.2381A>C (p.Gln794Pro)
c.1913A>C (p.Gln638Pro)
Xg.41531041T=CA2425947678CASKc.2435A= (p.Gln812=)
c.2432A= (p.Gln811=)
c.2486A= (p.Gln829=)
c.2384A= (p.Gln795=)
c.2489A= (p.Gln830=)
c.1106A= (p.Gln369=)
c.2417A= (p.Gln806=)
c.2348A= (p.Gln783=)
n.1265A=
c.258A=
c.2468A= (p.Gln823=)
c.2399A= (p.Gln800=)
c.2471A= (p.Gln824=)
n.2717A=
c.2453A= (p.Gln818=)
c.1808A= (p.Gln603=)
c.2402A= (p.Gln801=)
c.2420A= (p.Gln807=)
c.851A= (p.Gln284=)
c.1262A= (p.Gln421=)
c.2363A= (p.Gln788=)
c.2450A= (p.Gln817=)
c.2381A= (p.Gln794=)
c.1913A= (p.Gln638=)
Xg.41531042G>ACA251019CASKc.2434C>T (p.Gln812Ter)
c.2431C>T (p.Gln811Ter)
c.2485C>T (p.Gln829Ter)
c.2383C>T (p.Gln795Ter)
c.2488C>T (p.Gln830Ter)
c.1105C>T (p.Gln369Ter)
c.2416C>T (p.Gln806Ter)
c.2347C>T (p.Gln783Ter)
n.1264C>T
c.257C>T
c.2467C>T (p.Gln823Ter)
c.2398C>T (p.Gln800Ter)
c.2470C>T (p.Gln824Ter)
n.2716C>T
c.2452C>T (p.Gln818Ter)
c.1807C>T (p.Gln603Ter)
c.2401C>T (p.Gln801Ter)
c.2419C>T (p.Gln807Ter)
c.850C>T (p.Gln284Ter)
c.1261C>T (p.Gln421Ter)
c.2362C>T (p.Gln788Ter)
c.2449C>T (p.Gln817Ter)
c.2380C>T (p.Gln794Ter)
c.1912C>T (p.Gln638Ter)
 ClinVar dbSNP COSMIC
Xg.41531042G>CCA412990027CASKc.2434C>G (p.Gln812Glu)
c.2431C>G (p.Gln811Glu)
c.2485C>G (p.Gln829Glu)
c.2383C>G (p.Gln795Glu)
c.2488C>G (p.Gln830Glu)
c.1105C>G (p.Gln369Glu)
c.2416C>G (p.Gln806Glu)
c.2347C>G (p.Gln783Glu)
n.1264C>G
c.257C>G
c.2467C>G (p.Gln823Glu)
c.2398C>G (p.Gln800Glu)
c.2470C>G (p.Gln824Glu)
n.2716C>G
c.2452C>G (p.Gln818Glu)
c.1807C>G (p.Gln603Glu)
c.2401C>G (p.Gln801Glu)
c.2419C>G (p.Gln807Glu)
c.850C>G (p.Gln284Glu)
c.1261C>G (p.Gln421Glu)
c.2362C>G (p.Gln788Glu)
c.2449C>G (p.Gln817Glu)
c.2380C>G (p.Gln794Glu)
c.1912C>G (p.Gln638Glu)
Xg.41531042G=CA2425947679CASKc.2434C= (p.Gln812=)
c.2431C= (p.Gln811=)
c.2485C= (p.Gln829=)
c.2383C= (p.Gln795=)
c.2488C= (p.Gln830=)
c.1105C= (p.Gln369=)
c.2416C= (p.Gln806=)
c.2347C= (p.Gln783=)
n.1264C=
c.257C=
c.2467C= (p.Gln823=)
c.2398C= (p.Gln800=)
c.2470C= (p.Gln824=)
n.2716C=
c.2452C= (p.Gln818=)
c.1807C= (p.Gln603=)
c.2401C= (p.Gln801=)
c.2419C= (p.Gln807=)
c.850C= (p.Gln284=)
c.1261C= (p.Gln421=)
c.2362C= (p.Gln788=)
c.2449C= (p.Gln817=)
c.2380C= (p.Gln794=)
c.1912C= (p.Gln638=)
Xg.41531042G>TCA412990026CASKc.2434C>A (p.Gln812Lys)
c.2431C>A (p.Gln811Lys)
c.2485C>A (p.Gln829Lys)
c.2383C>A (p.Gln795Lys)
c.2488C>A (p.Gln830Lys)
c.1105C>A (p.Gln369Lys)
c.2416C>A (p.Gln806Lys)
c.2347C>A (p.Gln783Lys)
n.1264C>A
c.257C>A
c.2467C>A (p.Gln823Lys)
c.2398C>A (p.Gln800Lys)
c.2470C>A (p.Gln824Lys)
n.2716C>A
c.2452C>A (p.Gln818Lys)
c.1807C>A (p.Gln603Lys)
c.2401C>A (p.Gln801Lys)
c.2419C>A (p.Gln807Lys)
c.850C>A (p.Gln284Lys)
c.1261C>A (p.Gln421Lys)
c.2362C>A (p.Gln788Lys)
c.2449C>A (p.Gln817Lys)
c.2380C>A (p.Gln794Lys)
c.1912C>A (p.Gln638Lys)
Xg.41531043C>ACA412990029CASKc.2433G>T (p.Glu811Asp)
c.2430G>T (p.Glu810Asp)
c.2484G>T (p.Glu828Asp)
c.2382G>T (p.Glu794Asp)
c.2487G>T (p.Glu829Asp)
c.1104G>T (p.Glu368Asp)
c.2415G>T (p.Glu805Asp)
c.2346G>T (p.Glu782Asp)
n.1263G>T
c.256G>T
c.2466G>T (p.Glu822Asp)
c.2397G>T (p.Glu799Asp)
c.2469G>T (p.Glu823Asp)
n.2715G>T
c.2451G>T (p.Glu817Asp)
c.1806G>T (p.Glu602Asp)
c.2400G>T (p.Glu800Asp)
c.2418G>T (p.Glu806Asp)
c.849G>T (p.Glu283Asp)
c.1260G>T (p.Glu420Asp)
c.2361G>T (p.Glu787Asp)
c.2448G>T (p.Glu816Asp)
c.2379G>T (p.Glu793Asp)
c.1911G>T (p.Glu637Asp)
Xg.41531043C>GCA412990030CASKc.2433G>C (p.Glu811Asp)
c.2430G>C (p.Glu810Asp)
c.2484G>C (p.Glu828Asp)
c.2382G>C (p.Glu794Asp)
c.2487G>C (p.Glu829Asp)
c.1104G>C (p.Glu368Asp)
c.2415G>C (p.Glu805Asp)
c.2346G>C (p.Glu782Asp)
n.1263G>C
c.256G>C
c.2466G>C (p.Glu822Asp)
c.2397G>C (p.Glu799Asp)
c.2469G>C (p.Glu823Asp)
n.2715G>C
c.2451G>C (p.Glu817Asp)
c.1806G>C (p.Glu602Asp)
c.2400G>C (p.Glu800Asp)
c.2418G>C (p.Glu806Asp)
c.849G>C (p.Glu283Asp)
c.1260G>C (p.Glu420Asp)
c.2361G>C (p.Glu787Asp)
c.2448G>C (p.Glu816Asp)
c.2379G>C (p.Glu793Asp)
c.1911G>C (p.Glu637Asp)
Xg.41531043C>TCA516099069CASKc.2433G>A (p.Glu811=)
c.2430G>A (p.Glu810=)
c.2484G>A (p.Glu828=)
c.2382G>A (p.Glu794=)
c.2487G>A (p.Glu829=)
c.1104G>A (p.Glu368=)
c.2415G>A (p.Glu805=)
c.2346G>A (p.Glu782=)
n.1263G>A
c.256G>A
c.2466G>A (p.Glu822=)
c.2397G>A (p.Glu799=)
c.2469G>A (p.Glu823=)
n.2715G>A
c.2451G>A (p.Glu817=)
c.1806G>A (p.Glu602=)
c.2400G>A (p.Glu800=)
c.2418G>A (p.Glu806=)
c.849G>A (p.Glu283=)
c.1260G>A (p.Glu420=)
c.2361G>A (p.Glu787=)
c.2448G>A (p.Glu816=)
c.2379G>A (p.Glu793=)
c.1911G>A (p.Glu637=)
Xg.41531044T>ACA412990032CASKc.2432A>T (p.Glu811Val)
c.2429A>T (p.Glu810Val)
c.2483A>T (p.Glu828Val)
c.2381A>T (p.Glu794Val)
c.2486A>T (p.Glu829Val)
c.1103A>T (p.Glu368Val)
c.2414A>T (p.Glu805Val)
c.2345A>T (p.Glu782Val)
n.1262A>T
c.255A>T
c.2465A>T (p.Glu822Val)
c.2396A>T (p.Glu799Val)
c.2468A>T (p.Glu823Val)
n.2714A>T
c.2450A>T (p.Glu817Val)
c.1805A>T (p.Glu602Val)
c.2399A>T (p.Glu800Val)
c.2417A>T (p.Glu806Val)
c.848A>T (p.Glu283Val)
c.1259A>T (p.Glu420Val)
c.2360A>T (p.Glu787Val)
c.2447A>T (p.Glu816Val)
c.2378A>T (p.Glu793Val)
c.1910A>T (p.Glu637Val)
Xg.41531044T>CCA412990035CASKc.2432A>G (p.Glu811Gly)
c.2429A>G (p.Glu810Gly)
c.2483A>G (p.Glu828Gly)
c.2381A>G (p.Glu794Gly)
c.2486A>G (p.Glu829Gly)
c.1103A>G (p.Glu368Gly)
c.2414A>G (p.Glu805Gly)
c.2345A>G (p.Glu782Gly)
n.1262A>G
c.255A>G
c.2465A>G (p.Glu822Gly)
c.2396A>G (p.Glu799Gly)
c.2468A>G (p.Glu823Gly)
n.2714A>G
c.2450A>G (p.Glu817Gly)
c.1805A>G (p.Glu602Gly)
c.2399A>G (p.Glu800Gly)
c.2417A>G (p.Glu806Gly)
c.848A>G (p.Glu283Gly)
c.1259A>G (p.Glu420Gly)
c.2360A>G (p.Glu787Gly)
c.2447A>G (p.Glu816Gly)
c.2378A>G (p.Glu793Gly)
c.1910A>G (p.Glu637Gly)
Xg.41531044T>GCA412990034CASKc.2432A>C (p.Glu811Ala)
c.2429A>C (p.Glu810Ala)
c.2483A>C (p.Glu828Ala)
c.2381A>C (p.Glu794Ala)
c.2486A>C (p.Glu829Ala)
c.1103A>C (p.Glu368Ala)
c.2414A>C (p.Glu805Ala)
c.2345A>C (p.Glu782Ala)
n.1262A>C
c.255A>C
c.2465A>C (p.Glu822Ala)
c.2396A>C (p.Glu799Ala)
c.2468A>C (p.Glu823Ala)
n.2714A>C
c.2450A>C (p.Glu817Ala)
c.1805A>C (p.Glu602Ala)
c.2399A>C (p.Glu800Ala)
c.2417A>C (p.Glu806Ala)
c.848A>C (p.Glu283Ala)
c.1259A>C (p.Glu420Ala)
c.2360A>C (p.Glu787Ala)
c.2447A>C (p.Glu816Ala)
c.2378A>C (p.Glu793Ala)
c.1910A>C (p.Glu637Ala)
Xg.41531045C>ACA329228202CASKc.2431G>T (p.Glu811Ter)
c.2428G>T (p.Glu810Ter)
c.2482G>T (p.Glu828Ter)
c.2380G>T (p.Glu794Ter)
c.2485G>T (p.Glu829Ter)
c.1102G>T (p.Glu368Ter)
c.2413G>T (p.Glu805Ter)
c.2344G>T (p.Glu782Ter)
n.1261G>T
c.254G>T
c.2464G>T (p.Glu822Ter)
c.2395G>T (p.Glu799Ter)
c.2467G>T (p.Glu823Ter)
n.2713G>T
c.2449G>T (p.Glu817Ter)
c.1804G>T (p.Glu602Ter)
c.2398G>T (p.Glu800Ter)
c.2416G>T (p.Glu806Ter)
c.847G>T (p.Glu283Ter)
c.1258G>T (p.Glu420Ter)
c.2359G>T (p.Glu787Ter)
c.2446G>T (p.Glu816Ter)
c.2377G>T (p.Glu793Ter)
c.1909G>T (p.Glu637Ter)
 dbSNP
Xg.41531045C=CA2425947680CASKc.2431G= (p.Glu811=)
c.2428G= (p.Glu810=)
c.2482G= (p.Glu828=)
c.2380G= (p.Glu794=)
c.2485G= (p.Glu829=)
c.1102G= (p.Glu368=)
c.2413G= (p.Glu805=)
c.2344G= (p.Glu782=)
n.1261G=
c.254G=
c.2464G= (p.Glu822=)
c.2395G= (p.Glu799=)
c.2467G= (p.Glu823=)
n.2713G=
c.2449G= (p.Glu817=)
c.1804G= (p.Glu602=)
c.2398G= (p.Glu800=)
c.2416G= (p.Glu806=)
c.847G= (p.Glu283=)
c.1258G= (p.Glu420=)
c.2359G= (p.Glu787=)
c.2446G= (p.Glu816=)
c.2377G= (p.Glu793=)
c.1909G= (p.Glu637=)
Xg.41531045C>GCA10390016CASKc.2431G>C (p.Glu811Gln)
c.2428G>C (p.Glu810Gln)
c.2482G>C (p.Glu828Gln)
c.2380G>C (p.Glu794Gln)
c.2485G>C (p.Glu829Gln)
c.1102G>C (p.Glu368Gln)
c.2413G>C (p.Glu805Gln)
c.2344G>C (p.Glu782Gln)
n.1261G>C
c.254G>C
c.2464G>C (p.Glu822Gln)
c.2395G>C (p.Glu799Gln)
c.2467G>C (p.Glu823Gln)
n.2713G>C
c.2449G>C (p.Glu817Gln)
c.1804G>C (p.Glu602Gln)
c.2398G>C (p.Glu800Gln)
c.2416G>C (p.Glu806Gln)
c.847G>C (p.Glu283Gln)
c.1258G>C (p.Glu420Gln)
c.2359G>C (p.Glu787Gln)
c.2446G>C (p.Glu816Gln)
c.2377G>C (p.Glu793Gln)
c.1909G>C (p.Glu637Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531045C>TCA412990038CASKc.2431G>A (p.Glu811Lys)
c.2428G>A (p.Glu810Lys)
c.2482G>A (p.Glu828Lys)
c.2380G>A (p.Glu794Lys)
c.2485G>A (p.Glu829Lys)
c.1102G>A (p.Glu368Lys)
c.2413G>A (p.Glu805Lys)
c.2344G>A (p.Glu782Lys)
n.1261G>A
c.254G>A
c.2464G>A (p.Glu822Lys)
c.2395G>A (p.Glu799Lys)
c.2467G>A (p.Glu823Lys)
n.2713G>A
c.2449G>A (p.Glu817Lys)
c.1804G>A (p.Glu602Lys)
c.2398G>A (p.Glu800Lys)
c.2416G>A (p.Glu806Lys)
c.847G>A (p.Glu283Lys)
c.1258G>A (p.Glu420Lys)
c.2359G>A (p.Glu787Lys)
c.2446G>A (p.Glu816Lys)
c.2377G>A (p.Glu793Lys)
c.1909G>A (p.Glu637Lys)
 ClinVar dbSNP gnomAD v4
Xg.41531046G>ACA10390017CASKc.2430C>T (p.His810=)
c.2427C>T (p.His809=)
c.2481C>T (p.His827=)
c.2379C>T (p.His793=)
c.2484C>T (p.His828=)
c.1101C>T (p.His367=)
c.2412C>T (p.His804=)
c.2343C>T (p.His781=)
n.1260C>T
c.253C>T
c.2463C>T (p.His821=)
c.2394C>T (p.His798=)
c.2466C>T (p.His822=)
n.2712C>T
c.2448C>T (p.His816=)
c.1803C>T (p.His601=)
c.2397C>T (p.His799=)
c.2415C>T (p.His805=)
c.846C>T (p.His282=)
c.1257C>T (p.His419=)
c.2358C>T (p.His786=)
c.2445C>T (p.His815=)
c.2376C>T (p.His792=)
c.1908C>T (p.His636=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531046G>CCA412990041CASKc.2430C>G (p.His810Gln)
c.2427C>G (p.His809Gln)
c.2481C>G (p.His827Gln)
c.2379C>G (p.His793Gln)
c.2484C>G (p.His828Gln)
c.1101C>G (p.His367Gln)
c.2412C>G (p.His804Gln)
c.2343C>G (p.His781Gln)
n.1260C>G
c.253C>G
c.2463C>G (p.His821Gln)
c.2394C>G (p.His798Gln)
c.2466C>G (p.His822Gln)
n.2712C>G
c.2448C>G (p.His816Gln)
c.1803C>G (p.His601Gln)
c.2397C>G (p.His799Gln)
c.2415C>G (p.His805Gln)
c.846C>G (p.His282Gln)
c.1257C>G (p.His419Gln)
c.2358C>G (p.His786Gln)
c.2445C>G (p.His815Gln)
c.2376C>G (p.His792Gln)
c.1908C>G (p.His636Gln)
Xg.41531046G=CA2425947681CASKc.2430C= (p.His810=)
c.2427C= (p.His809=)
c.2481C= (p.His827=)
c.2379C= (p.His793=)
c.2484C= (p.His828=)
c.1101C= (p.His367=)
c.2412C= (p.His804=)
c.2343C= (p.His781=)
n.1260C=
c.253C=
c.2463C= (p.His821=)
c.2394C= (p.His798=)
c.2466C= (p.His822=)
n.2712C=
c.2448C= (p.His816=)
c.1803C= (p.His601=)
c.2397C= (p.His799=)
c.2415C= (p.His805=)
c.846C= (p.His282=)
c.1257C= (p.His419=)
c.2358C= (p.His786=)
c.2445C= (p.His815=)
c.2376C= (p.His792=)
c.1908C= (p.His636=)
Xg.41531046G>TCA412990043CASKc.2430C>A (p.His810Gln)
c.2427C>A (p.His809Gln)
c.2481C>A (p.His827Gln)
c.2379C>A (p.His793Gln)
c.2484C>A (p.His828Gln)
c.1101C>A (p.His367Gln)
c.2412C>A (p.His804Gln)
c.2343C>A (p.His781Gln)
n.1260C>A
c.253C>A
c.2463C>A (p.His821Gln)
c.2394C>A (p.His798Gln)
c.2466C>A (p.His822Gln)
n.2712C>A
c.2448C>A (p.His816Gln)
c.1803C>A (p.His601Gln)
c.2397C>A (p.His799Gln)
c.2415C>A (p.His805Gln)
c.846C>A (p.His282Gln)
c.1257C>A (p.His419Gln)
c.2358C>A (p.His786Gln)
c.2445C>A (p.His815Gln)
c.2376C>A (p.His792Gln)
c.1908C>A (p.His636Gln)
Xg.41531047T>ACA412990045CASKc.2429A>T (p.His810Leu)
c.2426A>T (p.His809Leu)
c.2480A>T (p.His827Leu)
c.2378A>T (p.His793Leu)
c.2483A>T (p.His828Leu)
c.1100A>T (p.His367Leu)
c.2411A>T (p.His804Leu)
c.2342A>T (p.His781Leu)
n.1259A>T
c.252A>T
c.2462A>T (p.His821Leu)
c.2393A>T (p.His798Leu)
c.2465A>T (p.His822Leu)
n.2711A>T
c.2447A>T (p.His816Leu)
c.1802A>T (p.His601Leu)
c.2396A>T (p.His799Leu)
c.2414A>T (p.His805Leu)
c.845A>T (p.His282Leu)
c.1256A>T (p.His419Leu)
c.2357A>T (p.His786Leu)
c.2444A>T (p.His815Leu)
c.2375A>T (p.His792Leu)
c.1907A>T (p.His636Leu)
Xg.41531047T>CCA412990046CASKc.2429A>G (p.His810Arg)
c.2426A>G (p.His809Arg)
c.2480A>G (p.His827Arg)
c.2378A>G (p.His793Arg)
c.2483A>G (p.His828Arg)
c.1100A>G (p.His367Arg)
c.2411A>G (p.His804Arg)
c.2342A>G (p.His781Arg)
n.1259A>G
c.252A>G
c.2462A>G (p.His821Arg)
c.2393A>G (p.His798Arg)
c.2465A>G (p.His822Arg)
n.2711A>G
c.2447A>G (p.His816Arg)
c.1802A>G (p.His601Arg)
c.2396A>G (p.His799Arg)
c.2414A>G (p.His805Arg)
c.845A>G (p.His282Arg)
c.1256A>G (p.His419Arg)
c.2357A>G (p.His786Arg)
c.2444A>G (p.His815Arg)
c.2375A>G (p.His792Arg)
c.1907A>G (p.His636Arg)
Xg.41531047T>GCA412990048CASKc.2429A>C (p.His810Pro)
c.2426A>C (p.His809Pro)
c.2480A>C (p.His827Pro)
c.2378A>C (p.His793Pro)
c.2483A>C (p.His828Pro)
c.1100A>C (p.His367Pro)
c.2411A>C (p.His804Pro)
c.2342A>C (p.His781Pro)
n.1259A>C
c.252A>C
c.2462A>C (p.His821Pro)
c.2393A>C (p.His798Pro)
c.2465A>C (p.His822Pro)
n.2711A>C
c.2447A>C (p.His816Pro)
c.1802A>C (p.His601Pro)
c.2396A>C (p.His799Pro)
c.2414A>C (p.His805Pro)
c.845A>C (p.His282Pro)
c.1256A>C (p.His419Pro)
c.2357A>C (p.His786Pro)
c.2444A>C (p.His815Pro)
c.2375A>C (p.His792Pro)
c.1907A>C (p.His636Pro)
Xg.41531048G>ACA412990050CASKc.2428C>T (p.His810Tyr)
c.2425C>T (p.His809Tyr)
c.2479C>T (p.His827Tyr)
c.2377C>T (p.His793Tyr)
c.2482C>T (p.His828Tyr)
c.1099C>T (p.His367Tyr)
c.2410C>T (p.His804Tyr)
c.2341C>T (p.His781Tyr)
n.1258C>T
c.251C>T
c.2461C>T (p.His821Tyr)
c.2392C>T (p.His798Tyr)
c.2464C>T (p.His822Tyr)
n.2710C>T
c.2446C>T (p.His816Tyr)
c.1801C>T (p.His601Tyr)
c.2395C>T (p.His799Tyr)
c.2413C>T (p.His805Tyr)
c.844C>T (p.His282Tyr)
c.1255C>T (p.His419Tyr)
c.2356C>T (p.His786Tyr)
c.2443C>T (p.His815Tyr)
c.2374C>T (p.His792Tyr)
c.1906C>T (p.His636Tyr)
 gnomAD v4
Xg.41531048G>CCA412990052CASKc.2428C>G (p.His810Asp)
c.2425C>G (p.His809Asp)
c.2479C>G (p.His827Asp)
c.2377C>G (p.His793Asp)
c.2482C>G (p.His828Asp)
c.1099C>G (p.His367Asp)
c.2410C>G (p.His804Asp)
c.2341C>G (p.His781Asp)
n.1258C>G
c.251C>G
c.2461C>G (p.His821Asp)
c.2392C>G (p.His798Asp)
c.2464C>G (p.His822Asp)
n.2710C>G
c.2446C>G (p.His816Asp)
c.1801C>G (p.His601Asp)
c.2395C>G (p.His799Asp)
c.2413C>G (p.His805Asp)
c.844C>G (p.His282Asp)
c.1255C>G (p.His419Asp)
c.2356C>G (p.His786Asp)
c.2443C>G (p.His815Asp)
c.2374C>G (p.His792Asp)
c.1906C>G (p.His636Asp)
Xg.41531048G>TCA412990053CASKc.2428C>A (p.His810Asn)
c.2425C>A (p.His809Asn)
c.2479C>A (p.His827Asn)
c.2377C>A (p.His793Asn)
c.2482C>A (p.His828Asn)
c.1099C>A (p.His367Asn)
c.2410C>A (p.His804Asn)
c.2341C>A (p.His781Asn)
n.1258C>A
c.251C>A
c.2461C>A (p.His821Asn)
c.2392C>A (p.His798Asn)
c.2464C>A (p.His822Asn)
n.2710C>A
c.2446C>A (p.His816Asn)
c.1801C>A (p.His601Asn)
c.2395C>A (p.His799Asn)
c.2413C>A (p.His805Asn)
c.844C>A (p.His282Asn)
c.1255C>A (p.His419Asn)
c.2356C>A (p.His786Asn)
c.2443C>A (p.His815Asn)
c.2374C>A (p.His792Asn)
c.1906C>A (p.His636Asn)
Xg.41531049G>ACA516099070CASKc.2427C>T (p.Ile809=)
c.2424C>T (p.Ile808=)
c.2478C>T (p.Ile826=)
c.2376C>T (p.Ile792=)
c.2481C>T (p.Ile827=)
c.1098C>T (p.Ile366=)
c.2409C>T (p.Ile803=)
c.2340C>T (p.Ile780=)
n.1257C>T
c.250C>T
c.2460C>T (p.Ile820=)
c.2391C>T (p.Ile797=)
c.2463C>T (p.Ile821=)
n.2709C>T
c.2445C>T (p.Ile815=)
c.1800C>T (p.Ile600=)
c.2394C>T (p.Ile798=)
c.2412C>T (p.Ile804=)
c.843C>T (p.Ile281=)
c.1254C>T (p.Ile418=)
c.2355C>T (p.Ile785=)
c.2442C>T (p.Ile814=)
c.2373C>T (p.Ile791=)
c.1905C>T (p.Ile635=)
Xg.41531049G>CCA412990055CASKc.2427C>G (p.Ile809Met)
c.2424C>G (p.Ile808Met)
c.2478C>G (p.Ile826Met)
c.2376C>G (p.Ile792Met)
c.2481C>G (p.Ile827Met)
c.1098C>G (p.Ile366Met)
c.2409C>G (p.Ile803Met)
c.2340C>G (p.Ile780Met)
n.1257C>G
c.250C>G
c.2460C>G (p.Ile820Met)
c.2391C>G (p.Ile797Met)
c.2463C>G (p.Ile821Met)
n.2709C>G
c.2445C>G (p.Ile815Met)
c.1800C>G (p.Ile600Met)
c.2394C>G (p.Ile798Met)
c.2412C>G (p.Ile804Met)
c.843C>G (p.Ile281Met)
c.1254C>G (p.Ile418Met)
c.2355C>G (p.Ile785Met)
c.2442C>G (p.Ile814Met)
c.2373C>G (p.Ile791Met)
c.1905C>G (p.Ile635Met)
Xg.41531049G>TCA516099071CASKc.2427C>A (p.Ile809=)
c.2424C>A (p.Ile808=)
c.2478C>A (p.Ile826=)
c.2376C>A (p.Ile792=)
c.2481C>A (p.Ile827=)
c.1098C>A (p.Ile366=)
c.2409C>A (p.Ile803=)
c.2340C>A (p.Ile780=)
n.1257C>A
c.250C>A
c.2460C>A (p.Ile820=)
c.2391C>A (p.Ile797=)
c.2463C>A (p.Ile821=)
n.2709C>A
c.2445C>A (p.Ile815=)
c.1800C>A (p.Ile600=)
c.2394C>A (p.Ile798=)
c.2412C>A (p.Ile804=)
c.843C>A (p.Ile281=)
c.1254C>A (p.Ile418=)
c.2355C>A (p.Ile785=)
c.2442C>A (p.Ile814=)
c.2373C>A (p.Ile791=)
c.1905C>A (p.Ile635=)
Xg.41531050A>CCA412990060CASKc.2426T>G (p.Ile809Ser)
c.2423T>G (p.Ile808Ser)
c.2477T>G (p.Ile826Ser)
c.2375T>G (p.Ile792Ser)
c.2480T>G (p.Ile827Ser)
c.1097T>G (p.Ile366Ser)
c.2408T>G (p.Ile803Ser)
c.2339T>G (p.Ile780Ser)
n.1256T>G
c.249T>G
c.2459T>G (p.Ile820Ser)
c.2390T>G (p.Ile797Ser)
c.2462T>G (p.Ile821Ser)
n.2708T>G
c.2444T>G (p.Ile815Ser)
c.1799T>G (p.Ile600Ser)
c.2393T>G (p.Ile798Ser)
c.2411T>G (p.Ile804Ser)
c.842T>G (p.Ile281Ser)
c.1253T>G (p.Ile418Ser)
c.2354T>G (p.Ile785Ser)
c.2441T>G (p.Ile814Ser)
c.2372T>G (p.Ile791Ser)
c.1904T>G (p.Ile635Ser)
Xg.41531050A>GCA412990059CASKc.2426T>C (p.Ile809Thr)
c.2423T>C (p.Ile808Thr)
c.2477T>C (p.Ile826Thr)
c.2375T>C (p.Ile792Thr)
c.2480T>C (p.Ile827Thr)
c.1097T>C (p.Ile366Thr)
c.2408T>C (p.Ile803Thr)
c.2339T>C (p.Ile780Thr)
n.1256T>C
c.249T>C
c.2459T>C (p.Ile820Thr)
c.2390T>C (p.Ile797Thr)
c.2462T>C (p.Ile821Thr)
n.2708T>C
c.2444T>C (p.Ile815Thr)
c.1799T>C (p.Ile600Thr)
c.2393T>C (p.Ile798Thr)
c.2411T>C (p.Ile804Thr)
c.842T>C (p.Ile281Thr)
c.1253T>C (p.Ile418Thr)
c.2354T>C (p.Ile785Thr)
c.2441T>C (p.Ile814Thr)
c.2372T>C (p.Ile791Thr)
c.1904T>C (p.Ile635Thr)
Xg.41531050A>TCA412990057CASKc.2426T>A (p.Ile809Asn)
c.2423T>A (p.Ile808Asn)
c.2477T>A (p.Ile826Asn)
c.2375T>A (p.Ile792Asn)
c.2480T>A (p.Ile827Asn)
c.1097T>A (p.Ile366Asn)
c.2408T>A (p.Ile803Asn)
c.2339T>A (p.Ile780Asn)
n.1256T>A
c.249T>A
c.2459T>A (p.Ile820Asn)
c.2390T>A (p.Ile797Asn)
c.2462T>A (p.Ile821Asn)
n.2708T>A
c.2444T>A (p.Ile815Asn)
c.1799T>A (p.Ile600Asn)
c.2393T>A (p.Ile798Asn)
c.2411T>A (p.Ile804Asn)
c.842T>A (p.Ile281Asn)
c.1253T>A (p.Ile418Asn)
c.2354T>A (p.Ile785Asn)
c.2441T>A (p.Ile814Asn)
c.2372T>A (p.Ile791Asn)
c.1904T>A (p.Ile635Asn)
Xg.41531051T>ACA412990062CASKc.2425A>T (p.Ile809Phe)
c.2422A>T (p.Ile808Phe)
c.2476A>T (p.Ile826Phe)
c.2374A>T (p.Ile792Phe)
c.2479A>T (p.Ile827Phe)
c.1096A>T (p.Ile366Phe)
c.2407A>T (p.Ile803Phe)
c.2338A>T (p.Ile780Phe)
n.1255A>T
c.248A>T
c.2458A>T (p.Ile820Phe)
c.2389A>T (p.Ile797Phe)
c.2461A>T (p.Ile821Phe)
n.2707A>T
c.2443A>T (p.Ile815Phe)
c.1798A>T (p.Ile600Phe)
c.2392A>T (p.Ile798Phe)
c.2410A>T (p.Ile804Phe)
c.841A>T (p.Ile281Phe)
c.1252A>T (p.Ile418Phe)
c.2353A>T (p.Ile785Phe)
c.2440A>T (p.Ile814Phe)
c.2371A>T (p.Ile791Phe)
c.1903A>T (p.Ile635Phe)
Xg.41531051T>CCA412990064CASKc.2425A>G (p.Ile809Val)
c.2422A>G (p.Ile808Val)
c.2476A>G (p.Ile826Val)
c.2374A>G (p.Ile792Val)
c.2479A>G (p.Ile827Val)
c.1096A>G (p.Ile366Val)
c.2407A>G (p.Ile803Val)
c.2338A>G (p.Ile780Val)
n.1255A>G
c.248A>G
c.2458A>G (p.Ile820Val)
c.2389A>G (p.Ile797Val)
c.2461A>G (p.Ile821Val)
n.2707A>G
c.2443A>G (p.Ile815Val)
c.1798A>G (p.Ile600Val)
c.2392A>G (p.Ile798Val)
c.2410A>G (p.Ile804Val)
c.841A>G (p.Ile281Val)
c.1252A>G (p.Ile418Val)
c.2353A>G (p.Ile785Val)
c.2440A>G (p.Ile814Val)
c.2371A>G (p.Ile791Val)
c.1903A>G (p.Ile635Val)
Xg.41531051T>GCA412990065CASKc.2425A>C (p.Ile809Leu)
c.2422A>C (p.Ile808Leu)
c.2476A>C (p.Ile826Leu)
c.2374A>C (p.Ile792Leu)
c.2479A>C (p.Ile827Leu)
c.1096A>C (p.Ile366Leu)
c.2407A>C (p.Ile803Leu)
c.2338A>C (p.Ile780Leu)
n.1255A>C
c.248A>C
c.2458A>C (p.Ile820Leu)
c.2389A>C (p.Ile797Leu)
c.2461A>C (p.Ile821Leu)
n.2707A>C
c.2443A>C (p.Ile815Leu)
c.1798A>C (p.Ile600Leu)
c.2392A>C (p.Ile798Leu)
c.2410A>C (p.Ile804Leu)
c.841A>C (p.Ile281Leu)
c.1252A>C (p.Ile418Leu)
c.2353A>C (p.Ile785Leu)
c.2440A>C (p.Ile814Leu)
c.2371A>C (p.Ile791Leu)
c.1903A>C (p.Ile635Leu)
Xg.41531052C>ACA412990066CASKc.2424G>T (p.Lys808Asn)
c.2421G>T (p.Lys807Asn)
c.2475G>T (p.Lys825Asn)
c.2373G>T (p.Lys791Asn)
c.2478G>T (p.Lys826Asn)
c.1095G>T (p.Lys365Asn)
c.2406G>T (p.Lys802Asn)
c.2337G>T (p.Lys779Asn)
n.1254G>T
c.247G>T
c.2457G>T (p.Lys819Asn)
c.2388G>T (p.Lys796Asn)
c.2460G>T (p.Lys820Asn)
n.2706G>T
c.2442G>T (p.Lys814Asn)
c.1797G>T (p.Lys599Asn)
c.2391G>T (p.Lys797Asn)
c.2409G>T (p.Lys803Asn)
c.840G>T (p.Lys280Asn)
c.1251G>T (p.Lys417Asn)
c.2352G>T (p.Lys784Asn)
c.2439G>T (p.Lys813Asn)
c.2370G>T (p.Lys790Asn)
c.1902G>T (p.Lys634Asn)
Xg.41531052C>GCA412990068CASKc.2424G>C (p.Lys808Asn)
c.2421G>C (p.Lys807Asn)
c.2475G>C (p.Lys825Asn)
c.2373G>C (p.Lys791Asn)
c.2478G>C (p.Lys826Asn)
c.1095G>C (p.Lys365Asn)
c.2406G>C (p.Lys802Asn)
c.2337G>C (p.Lys779Asn)
n.1254G>C
c.247G>C
c.2457G>C (p.Lys819Asn)
c.2388G>C (p.Lys796Asn)
c.2460G>C (p.Lys820Asn)
n.2706G>C
c.2442G>C (p.Lys814Asn)
c.1797G>C (p.Lys599Asn)
c.2391G>C (p.Lys797Asn)
c.2409G>C (p.Lys803Asn)
c.840G>C (p.Lys280Asn)
c.1251G>C (p.Lys417Asn)
c.2352G>C (p.Lys784Asn)
c.2439G>C (p.Lys813Asn)
c.2370G>C (p.Lys790Asn)
c.1902G>C (p.Lys634Asn)
Xg.41531052C>TCA516099072CASKc.2424G>A (p.Lys808=)
c.2421G>A (p.Lys807=)
c.2475G>A (p.Lys825=)
c.2373G>A (p.Lys791=)
c.2478G>A (p.Lys826=)
c.1095G>A (p.Lys365=)
c.2406G>A (p.Lys802=)
c.2337G>A (p.Lys779=)
n.1254G>A
c.247G>A
c.2457G>A (p.Lys819=)
c.2388G>A (p.Lys796=)
c.2460G>A (p.Lys820=)
n.2706G>A
c.2442G>A (p.Lys814=)
c.1797G>A (p.Lys599=)
c.2391G>A (p.Lys797=)
c.2409G>A (p.Lys803=)
c.840G>A (p.Lys280=)
c.1251G>A (p.Lys417=)
c.2352G>A (p.Lys784=)
c.2439G>A (p.Lys813=)
c.2370G>A (p.Lys790=)
c.1902G>A (p.Lys634=)
Xg.41531053T>ACA412990070CASKc.2423A>T (p.Lys808Met)
c.2420A>T (p.Lys807Met)
c.2474A>T (p.Lys825Met)
c.2372A>T (p.Lys791Met)
c.2477A>T (p.Lys826Met)
c.1094A>T (p.Lys365Met)
c.2405A>T (p.Lys802Met)
c.2336A>T (p.Lys779Met)
n.1253A>T
c.246A>T
c.2456A>T (p.Lys819Met)
c.2387A>T (p.Lys796Met)
c.2459A>T (p.Lys820Met)
n.2705A>T
c.2441A>T (p.Lys814Met)
c.1796A>T (p.Lys599Met)
c.2390A>T (p.Lys797Met)
c.2408A>T (p.Lys803Met)
c.839A>T (p.Lys280Met)
c.1250A>T (p.Lys417Met)
c.2351A>T (p.Lys784Met)
c.2438A>T (p.Lys813Met)
c.2369A>T (p.Lys790Met)
c.1901A>T (p.Lys634Met)
Xg.41531053T>CCA412990071CASKc.2423A>G (p.Lys808Arg)
c.2420A>G (p.Lys807Arg)
c.2474A>G (p.Lys825Arg)
c.2372A>G (p.Lys791Arg)
c.2477A>G (p.Lys826Arg)
c.1094A>G (p.Lys365Arg)
c.2405A>G (p.Lys802Arg)
c.2336A>G (p.Lys779Arg)
n.1253A>G
c.246A>G
c.2456A>G (p.Lys819Arg)
c.2387A>G (p.Lys796Arg)
c.2459A>G (p.Lys820Arg)
n.2705A>G
c.2441A>G (p.Lys814Arg)
c.1796A>G (p.Lys599Arg)
c.2390A>G (p.Lys797Arg)
c.2408A>G (p.Lys803Arg)
c.839A>G (p.Lys280Arg)
c.1250A>G (p.Lys417Arg)
c.2351A>G (p.Lys784Arg)
c.2438A>G (p.Lys813Arg)
c.2369A>G (p.Lys790Arg)
c.1901A>G (p.Lys634Arg)
 COSMIC
Xg.41531053T>GCA412990072CASKc.2423A>C (p.Lys808Thr)
c.2420A>C (p.Lys807Thr)
c.2474A>C (p.Lys825Thr)
c.2372A>C (p.Lys791Thr)
c.2477A>C (p.Lys826Thr)
c.1094A>C (p.Lys365Thr)
c.2405A>C (p.Lys802Thr)
c.2336A>C (p.Lys779Thr)
n.1253A>C
c.246A>C
c.2456A>C (p.Lys819Thr)
c.2387A>C (p.Lys796Thr)
c.2459A>C (p.Lys820Thr)
n.2705A>C
c.2441A>C (p.Lys814Thr)
c.1796A>C (p.Lys599Thr)
c.2390A>C (p.Lys797Thr)
c.2408A>C (p.Lys803Thr)
c.839A>C (p.Lys280Thr)
c.1250A>C (p.Lys417Thr)
c.2351A>C (p.Lys784Thr)
c.2438A>C (p.Lys813Thr)
c.2369A>C (p.Lys790Thr)
c.1901A>C (p.Lys634Thr)
Xg.41531054T>ACA412990073CASKc.2422A>T (p.Lys808Ter)
c.2419A>T (p.Lys807Ter)
c.2473A>T (p.Lys825Ter)
c.2371A>T (p.Lys791Ter)
c.2476A>T (p.Lys826Ter)
c.1093A>T (p.Lys365Ter)
c.2404A>T (p.Lys802Ter)
c.2335A>T (p.Lys779Ter)
n.1252A>T
c.245A>T
c.2455A>T (p.Lys819Ter)
c.2386A>T (p.Lys796Ter)
c.2458A>T (p.Lys820Ter)
n.2704A>T
c.2440A>T (p.Lys814Ter)
c.1795A>T (p.Lys599Ter)
c.2389A>T (p.Lys797Ter)
c.2407A>T (p.Lys803Ter)
c.838A>T (p.Lys280Ter)
c.1249A>T (p.Lys417Ter)
c.2350A>T (p.Lys784Ter)
c.2437A>T (p.Lys813Ter)
c.2368A>T (p.Lys790Ter)
c.1900A>T (p.Lys634Ter)
Xg.41531054T>CCA412990074CASKc.2422A>G (p.Lys808Glu)
c.2419A>G (p.Lys807Glu)
c.2473A>G (p.Lys825Glu)
c.2371A>G (p.Lys791Glu)
c.2476A>G (p.Lys826Glu)
c.1093A>G (p.Lys365Glu)
c.2404A>G (p.Lys802Glu)
c.2335A>G (p.Lys779Glu)
n.1252A>G
c.245A>G
c.2455A>G (p.Lys819Glu)
c.2386A>G (p.Lys796Glu)
c.2458A>G (p.Lys820Glu)
n.2704A>G
c.2440A>G (p.Lys814Glu)
c.1795A>G (p.Lys599Glu)
c.2389A>G (p.Lys797Glu)
c.2407A>G (p.Lys803Glu)
c.838A>G (p.Lys280Glu)
c.1249A>G (p.Lys417Glu)
c.2350A>G (p.Lys784Glu)
c.2437A>G (p.Lys813Glu)
c.2368A>G (p.Lys790Glu)
c.1900A>G (p.Lys634Glu)
Xg.41531054T>GCA412990076CASKc.2422A>C (p.Lys808Gln)
c.2419A>C (p.Lys807Gln)
c.2473A>C (p.Lys825Gln)
c.2371A>C (p.Lys791Gln)
c.2476A>C (p.Lys826Gln)
c.1093A>C (p.Lys365Gln)
c.2404A>C (p.Lys802Gln)
c.2335A>C (p.Lys779Gln)
n.1252A>C
c.245A>C
c.2455A>C (p.Lys819Gln)
c.2386A>C (p.Lys796Gln)
c.2458A>C (p.Lys820Gln)
n.2704A>C
c.2440A>C (p.Lys814Gln)
c.1795A>C (p.Lys599Gln)
c.2389A>C (p.Lys797Gln)
c.2407A>C (p.Lys803Gln)
c.838A>C (p.Lys280Gln)
c.1249A>C (p.Lys417Gln)
c.2350A>C (p.Lys784Gln)
c.2437A>C (p.Lys813Gln)
c.2368A>C (p.Lys790Gln)
c.1900A>C (p.Lys634Gln)
Xg.41531055C>ACA516099073CASKc.2421G>T (p.Arg807=)
c.2418G>T (p.Arg806=)
c.2472G>T (p.Arg824=)
c.2370G>T (p.Arg790=)
c.2475G>T (p.Arg825=)
c.1092G>T (p.Arg364=)
c.2403G>T (p.Arg801=)
c.2334G>T (p.Arg778=)
n.1251G>T
c.244G>T
c.2454G>T (p.Arg818=)
c.2385G>T (p.Arg795=)
c.2457G>T (p.Arg819=)
n.2703G>T
c.2439G>T (p.Arg813=)
c.1794G>T (p.Arg598=)
c.2388G>T (p.Arg796=)
c.2406G>T (p.Arg802=)
c.837G>T (p.Arg279=)
c.1248G>T (p.Arg416=)
c.2349G>T (p.Arg783=)
c.2436G>T (p.Arg812=)
c.2367G>T (p.Arg789=)
c.1899G>T (p.Arg633=)
Xg.41531055C>GCA516099075CASKc.2421G>C (p.Arg807=)
c.2418G>C (p.Arg806=)
c.2472G>C (p.Arg824=)
c.2370G>C (p.Arg790=)
c.2475G>C (p.Arg825=)
c.1092G>C (p.Arg364=)
c.2403G>C (p.Arg801=)
c.2334G>C (p.Arg778=)
n.1251G>C
c.244G>C
c.2454G>C (p.Arg818=)
c.2385G>C (p.Arg795=)
c.2457G>C (p.Arg819=)
n.2703G>C
c.2439G>C (p.Arg813=)
c.1794G>C (p.Arg598=)
c.2388G>C (p.Arg796=)
c.2406G>C (p.Arg802=)
c.837G>C (p.Arg279=)
c.1248G>C (p.Arg416=)
c.2349G>C (p.Arg783=)
c.2436G>C (p.Arg812=)
c.2367G>C (p.Arg789=)
c.1899G>C (p.Arg633=)
Xg.41531055C>TCA516099074CASKc.2421G>A (p.Arg807=)
c.2418G>A (p.Arg806=)
c.2472G>A (p.Arg824=)
c.2370G>A (p.Arg790=)
c.2475G>A (p.Arg825=)
c.1092G>A (p.Arg364=)
c.2403G>A (p.Arg801=)
c.2334G>A (p.Arg778=)
n.1251G>A
c.244G>A
c.2454G>A (p.Arg818=)
c.2385G>A (p.Arg795=)
c.2457G>A (p.Arg819=)
n.2703G>A
c.2439G>A (p.Arg813=)
c.1794G>A (p.Arg598=)
c.2388G>A (p.Arg796=)
c.2406G>A (p.Arg802=)
c.837G>A (p.Arg279=)
c.1248G>A (p.Arg416=)
c.2349G>A (p.Arg783=)
c.2436G>A (p.Arg812=)
c.2367G>A (p.Arg789=)
c.1899G>A (p.Arg633=)
Xg.41531056C>ACA412990079CASKc.2420G>T (p.Arg807Leu)
c.2417G>T (p.Arg806Leu)
c.2471G>T (p.Arg824Leu)
c.2369G>T (p.Arg790Leu)
c.2474G>T (p.Arg825Leu)
c.1091G>T (p.Arg364Leu)
c.2402G>T (p.Arg801Leu)
c.2333G>T (p.Arg778Leu)
n.1250G>T
c.243G>T
c.2453G>T (p.Arg818Leu)
c.2384G>T (p.Arg795Leu)
c.2456G>T (p.Arg819Leu)
n.2702G>T
c.2438G>T (p.Arg813Leu)
c.1793G>T (p.Arg598Leu)
c.2387G>T (p.Arg796Leu)
c.2405G>T (p.Arg802Leu)
c.836G>T (p.Arg279Leu)
c.1247G>T (p.Arg416Leu)
c.2348G>T (p.Arg783Leu)
c.2435G>T (p.Arg812Leu)
c.2366G>T (p.Arg789Leu)
c.1898G>T (p.Arg633Leu)
Xg.41531056C=CA2425947682CASKc.2420G= (p.Arg807=)
c.2417G= (p.Arg806=)
c.2471G= (p.Arg824=)
c.2369G= (p.Arg790=)
c.2474G= (p.Arg825=)
c.1091G= (p.Arg364=)
c.2402G= (p.Arg801=)
c.2333G= (p.Arg778=)
n.1250G=
c.243G=
c.2453G= (p.Arg818=)
c.2384G= (p.Arg795=)
c.2456G= (p.Arg819=)
n.2702G=
c.2438G= (p.Arg813=)
c.1793G= (p.Arg598=)
c.2387G= (p.Arg796=)
c.2405G= (p.Arg802=)
c.836G= (p.Arg279=)
c.1247G= (p.Arg416=)
c.2348G= (p.Arg783=)
c.2435G= (p.Arg812=)
c.2366G= (p.Arg789=)
c.1898G= (p.Arg633=)
Xg.41531056C>GCA412990077CASKc.2420G>C (p.Arg807Pro)
c.2417G>C (p.Arg806Pro)
c.2471G>C (p.Arg824Pro)
c.2369G>C (p.Arg790Pro)
c.2474G>C (p.Arg825Pro)
c.1091G>C (p.Arg364Pro)
c.2402G>C (p.Arg801Pro)
c.2333G>C (p.Arg778Pro)
n.1250G>C
c.243G>C
c.2453G>C (p.Arg818Pro)
c.2384G>C (p.Arg795Pro)
c.2456G>C (p.Arg819Pro)
n.2702G>C
c.2438G>C (p.Arg813Pro)
c.1793G>C (p.Arg598Pro)
c.2387G>C (p.Arg796Pro)
c.2405G>C (p.Arg802Pro)
c.836G>C (p.Arg279Pro)
c.1247G>C (p.Arg416Pro)
c.2348G>C (p.Arg783Pro)
c.2435G>C (p.Arg812Pro)
c.2366G>C (p.Arg789Pro)
c.1898G>C (p.Arg633Pro)
Xg.41531056C>TCA10390018CASKc.2420G>A (p.Arg807Gln)
c.2417G>A (p.Arg806Gln)
c.2471G>A (p.Arg824Gln)
c.2369G>A (p.Arg790Gln)
c.2474G>A (p.Arg825Gln)
c.1091G>A (p.Arg364Gln)
c.2402G>A (p.Arg801Gln)
c.2333G>A (p.Arg778Gln)
n.1250G>A
c.243G>A
c.2453G>A (p.Arg818Gln)
c.2384G>A (p.Arg795Gln)
c.2456G>A (p.Arg819Gln)
n.2702G>A
c.2438G>A (p.Arg813Gln)
c.1793G>A (p.Arg598Gln)
c.2387G>A (p.Arg796Gln)
c.2405G>A (p.Arg802Gln)
c.836G>A (p.Arg279Gln)
c.1247G>A (p.Arg416Gln)
c.2348G>A (p.Arg783Gln)
c.2435G>A (p.Arg812Gln)
c.2366G>A (p.Arg789Gln)
c.1898G>A (p.Arg633Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531057G>ACA10390019CASKc.2419C>T (p.Arg807Trp)
c.2416C>T (p.Arg806Trp)
c.2470C>T (p.Arg824Trp)
c.2368C>T (p.Arg790Trp)
c.2473C>T (p.Arg825Trp)
c.1090C>T (p.Arg364Trp)
c.2401C>T (p.Arg801Trp)
c.2332C>T (p.Arg778Trp)
n.1249C>T
c.242C>T
c.2452C>T (p.Arg818Trp)
c.2383C>T (p.Arg795Trp)
c.2455C>T (p.Arg819Trp)
n.2701C>T
c.2437C>T (p.Arg813Trp)
c.1792C>T (p.Arg598Trp)
c.2386C>T (p.Arg796Trp)
c.2404C>T (p.Arg802Trp)
c.835C>T (p.Arg279Trp)
c.1246C>T (p.Arg416Trp)
c.2347C>T (p.Arg783Trp)
c.2434C>T (p.Arg812Trp)
c.2365C>T (p.Arg789Trp)
c.1897C>T (p.Arg633Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
Xg.41531057G>CCA412990082CASKc.2419C>G (p.Arg807Gly)
c.2416C>G (p.Arg806Gly)
c.2470C>G (p.Arg824Gly)
c.2368C>G (p.Arg790Gly)
c.2473C>G (p.Arg825Gly)
c.1090C>G (p.Arg364Gly)
c.2401C>G (p.Arg801Gly)
c.2332C>G (p.Arg778Gly)
n.1249C>G
c.242C>G
c.2452C>G (p.Arg818Gly)
c.2383C>G (p.Arg795Gly)
c.2455C>G (p.Arg819Gly)
n.2701C>G
c.2437C>G (p.Arg813Gly)
c.1792C>G (p.Arg598Gly)
c.2386C>G (p.Arg796Gly)
c.2404C>G (p.Arg802Gly)
c.835C>G (p.Arg279Gly)
c.1246C>G (p.Arg416Gly)
c.2347C>G (p.Arg783Gly)
c.2434C>G (p.Arg812Gly)
c.2365C>G (p.Arg789Gly)
c.1897C>G (p.Arg633Gly)
Xg.41531057G=CA2425947683CASKc.2419C= (p.Arg807=)
c.2416C= (p.Arg806=)
c.2470C= (p.Arg824=)
c.2368C= (p.Arg790=)
c.2473C= (p.Arg825=)
c.1090C= (p.Arg364=)
c.2401C= (p.Arg801=)
c.2332C= (p.Arg778=)
n.1249C=
c.242C=
c.2452C= (p.Arg818=)
c.2383C= (p.Arg795=)
c.2455C= (p.Arg819=)
n.2701C=
c.2437C= (p.Arg813=)
c.1792C= (p.Arg598=)
c.2386C= (p.Arg796=)
c.2404C= (p.Arg802=)
c.835C= (p.Arg279=)
c.1246C= (p.Arg416=)
c.2347C= (p.Arg783=)
c.2434C= (p.Arg812=)
c.2365C= (p.Arg789=)
c.1897C= (p.Arg633=)
Xg.41531057G>TCA516099076CASKc.2419C>A (p.Arg807=)
c.2416C>A (p.Arg806=)
c.2470C>A (p.Arg824=)
c.2368C>A (p.Arg790=)
c.2473C>A (p.Arg825=)
c.1090C>A (p.Arg364=)
c.2401C>A (p.Arg801=)
c.2332C>A (p.Arg778=)
n.1249C>A
c.242C>A
c.2452C>A (p.Arg818=)
c.2383C>A (p.Arg795=)
c.2455C>A (p.Arg819=)
n.2701C>A
c.2437C>A (p.Arg813=)
c.1792C>A (p.Arg598=)
c.2386C>A (p.Arg796=)
c.2404C>A (p.Arg802=)
c.835C>A (p.Arg279=)
c.1246C>A (p.Arg416=)
c.2347C>A (p.Arg783=)
c.2434C>A (p.Arg812=)
c.2365C>A (p.Arg789=)
c.1897C>A (p.Arg633=)
Xg.41531058G>ACA516099077CASKc.2418C>T (p.Ile806=)
c.2415C>T (p.Ile805=)
c.2469C>T (p.Ile823=)
c.2367C>T (p.Ile789=)
c.2472C>T (p.Ile824=)
c.1089C>T (p.Ile363=)
c.2400C>T (p.Ile800=)
c.2331C>T (p.Ile777=)
n.1248C>T
c.241C>T
c.2451C>T (p.Ile817=)
c.2382C>T (p.Ile794=)
c.2454C>T (p.Ile818=)
n.2700C>T
c.2436C>T (p.Ile812=)
c.1791C>T (p.Ile597=)
c.2385C>T (p.Ile795=)
c.2403C>T (p.Ile801=)
c.834C>T (p.Ile278=)
c.1245C>T (p.Ile415=)
c.2346C>T (p.Ile782=)
c.2433C>T (p.Ile811=)
c.2364C>T (p.Ile788=)
c.1896C>T (p.Ile632=)
Xg.41531058G>CCA412990083CASKc.2418C>G (p.Ile806Met)
c.2415C>G (p.Ile805Met)
c.2469C>G (p.Ile823Met)
c.2367C>G (p.Ile789Met)
c.2472C>G (p.Ile824Met)
c.1089C>G (p.Ile363Met)
c.2400C>G (p.Ile800Met)
c.2331C>G (p.Ile777Met)
n.1248C>G
c.241C>G
c.2451C>G (p.Ile817Met)
c.2382C>G (p.Ile794Met)
c.2454C>G (p.Ile818Met)
n.2700C>G
c.2436C>G (p.Ile812Met)
c.1791C>G (p.Ile597Met)
c.2385C>G (p.Ile795Met)
c.2403C>G (p.Ile801Met)
c.834C>G (p.Ile278Met)
c.1245C>G (p.Ile415Met)
c.2346C>G (p.Ile782Met)
c.2433C>G (p.Ile811Met)
c.2364C>G (p.Ile788Met)
c.1896C>G (p.Ile632Met)
 COSMIC COSMIC
Xg.41531058G=CA2425947684CASKc.2418C= (p.Ile806=)
c.2415C= (p.Ile805=)
c.2469C= (p.Ile823=)
c.2367C= (p.Ile789=)
c.2472C= (p.Ile824=)
c.1089C= (p.Ile363=)
c.2400C= (p.Ile800=)
c.2331C= (p.Ile777=)
n.1248C=
c.241C=
c.2451C= (p.Ile817=)
c.2382C= (p.Ile794=)
c.2454C= (p.Ile818=)
n.2700C=
c.2436C= (p.Ile812=)
c.1791C= (p.Ile597=)
c.2385C= (p.Ile795=)
c.2403C= (p.Ile801=)
c.834C= (p.Ile278=)
c.1245C= (p.Ile415=)
c.2346C= (p.Ile782=)
c.2433C= (p.Ile811=)
c.2364C= (p.Ile788=)
c.1896C= (p.Ile632=)
Xg.41531058G>TCA10390020CASKc.2418C>A (p.Ile806=)
c.2415C>A (p.Ile805=)
c.2469C>A (p.Ile823=)
c.2367C>A (p.Ile789=)
c.2472C>A (p.Ile824=)
c.1089C>A (p.Ile363=)
c.2400C>A (p.Ile800=)
c.2331C>A (p.Ile777=)
n.1248C>A
c.241C>A
c.2451C>A (p.Ile817=)
c.2382C>A (p.Ile794=)
c.2454C>A (p.Ile818=)
n.2700C>A
c.2436C>A (p.Ile812=)
c.1791C>A (p.Ile597=)
c.2385C>A (p.Ile795=)
c.2403C>A (p.Ile801=)
c.834C>A (p.Ile278=)
c.1245C>A (p.Ile415=)
c.2346C>A (p.Ile782=)
c.2433C>A (p.Ile811=)
c.2364C>A (p.Ile788=)
c.1896C>A (p.Ile632=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531059A>CCA412990086CASKc.2417T>G (p.Ile806Ser)
c.2414T>G (p.Ile805Ser)
c.2468T>G (p.Ile823Ser)
c.2366T>G (p.Ile789Ser)
c.2471T>G (p.Ile824Ser)
c.1088T>G (p.Ile363Ser)
c.2399T>G (p.Ile800Ser)
c.2330T>G (p.Ile777Ser)
n.1247T>G
c.240T>G
c.2450T>G (p.Ile817Ser)
c.2381T>G (p.Ile794Ser)
c.2453T>G (p.Ile818Ser)
n.2699T>G
c.2435T>G (p.Ile812Ser)
c.1790T>G (p.Ile597Ser)
c.2384T>G (p.Ile795Ser)
c.2402T>G (p.Ile801Ser)
c.833T>G (p.Ile278Ser)
c.1244T>G (p.Ile415Ser)
c.2345T>G (p.Ile782Ser)
c.2432T>G (p.Ile811Ser)
c.2363T>G (p.Ile788Ser)
c.1895T>G (p.Ile632Ser)
Xg.41531059A>GCA412990088CASKc.2417T>C (p.Ile806Thr)
c.2414T>C (p.Ile805Thr)
c.2468T>C (p.Ile823Thr)
c.2366T>C (p.Ile789Thr)
c.2471T>C (p.Ile824Thr)
c.1088T>C (p.Ile363Thr)
c.2399T>C (p.Ile800Thr)
c.2330T>C (p.Ile777Thr)
n.1247T>C
c.240T>C
c.2450T>C (p.Ile817Thr)
c.2381T>C (p.Ile794Thr)
c.2453T>C (p.Ile818Thr)
n.2699T>C
c.2435T>C (p.Ile812Thr)
c.1790T>C (p.Ile597Thr)
c.2384T>C (p.Ile795Thr)
c.2402T>C (p.Ile801Thr)
c.833T>C (p.Ile278Thr)
c.1244T>C (p.Ile415Thr)
c.2345T>C (p.Ile782Thr)
c.2432T>C (p.Ile811Thr)
c.2363T>C (p.Ile788Thr)
c.1895T>C (p.Ile632Thr)
Xg.41531059A>TCA412990089CASKc.2417T>A (p.Ile806Asn)
c.2414T>A (p.Ile805Asn)
c.2468T>A (p.Ile823Asn)
c.2366T>A (p.Ile789Asn)
c.2471T>A (p.Ile824Asn)
c.1088T>A (p.Ile363Asn)
c.2399T>A (p.Ile800Asn)
c.2330T>A (p.Ile777Asn)
n.1247T>A
c.240T>A
c.2450T>A (p.Ile817Asn)
c.2381T>A (p.Ile794Asn)
c.2453T>A (p.Ile818Asn)
n.2699T>A
c.2435T>A (p.Ile812Asn)
c.1790T>A (p.Ile597Asn)
c.2384T>A (p.Ile795Asn)
c.2402T>A (p.Ile801Asn)
c.833T>A (p.Ile278Asn)
c.1244T>A (p.Ile415Asn)
c.2345T>A (p.Ile782Asn)
c.2432T>A (p.Ile811Asn)
c.2363T>A (p.Ile788Asn)
c.1895T>A (p.Ile632Asn)
Xg.41531060T>ACA412990092CASKc.2416A>T (p.Ile806Phe)
c.2413A>T (p.Ile805Phe)
c.2467A>T (p.Ile823Phe)
c.2365A>T (p.Ile789Phe)
c.2470A>T (p.Ile824Phe)
c.1087A>T (p.Ile363Phe)
c.2398A>T (p.Ile800Phe)
c.2329A>T (p.Ile777Phe)
n.1246A>T
c.239A>T
c.2449A>T (p.Ile817Phe)
c.2380A>T (p.Ile794Phe)
c.2452A>T (p.Ile818Phe)
n.2698A>T
c.2434A>T (p.Ile812Phe)
c.1789A>T (p.Ile597Phe)
c.2383A>T (p.Ile795Phe)
c.2401A>T (p.Ile801Phe)
c.832A>T (p.Ile278Phe)
c.1243A>T (p.Ile415Phe)
c.2344A>T (p.Ile782Phe)
c.2431A>T (p.Ile811Phe)
c.2362A>T (p.Ile788Phe)
c.1894A>T (p.Ile632Phe)
Xg.41531060T>CCA412990093CASKc.2416A>G (p.Ile806Val)
c.2413A>G (p.Ile805Val)
c.2467A>G (p.Ile823Val)
c.2365A>G (p.Ile789Val)
c.2470A>G (p.Ile824Val)
c.1087A>G (p.Ile363Val)
c.2398A>G (p.Ile800Val)
c.2329A>G (p.Ile777Val)
n.1246A>G
c.239A>G
c.2449A>G (p.Ile817Val)
c.2380A>G (p.Ile794Val)
c.2452A>G (p.Ile818Val)
n.2698A>G
c.2434A>G (p.Ile812Val)
c.1789A>G (p.Ile597Val)
c.2383A>G (p.Ile795Val)
c.2401A>G (p.Ile801Val)
c.832A>G (p.Ile278Val)
c.1243A>G (p.Ile415Val)
c.2344A>G (p.Ile782Val)
c.2431A>G (p.Ile811Val)
c.2362A>G (p.Ile788Val)
c.1894A>G (p.Ile632Val)
 gnomAD v4
Xg.41531060T>GCA412990095CASKc.2416A>C (p.Ile806Leu)
c.2413A>C (p.Ile805Leu)
c.2467A>C (p.Ile823Leu)
c.2365A>C (p.Ile789Leu)
c.2470A>C (p.Ile824Leu)
c.1087A>C (p.Ile363Leu)
c.2398A>C (p.Ile800Leu)
c.2329A>C (p.Ile777Leu)
n.1246A>C
c.239A>C
c.2449A>C (p.Ile817Leu)
c.2380A>C (p.Ile794Leu)
c.2452A>C (p.Ile818Leu)
n.2698A>C
c.2434A>C (p.Ile812Leu)
c.1789A>C (p.Ile597Leu)
c.2383A>C (p.Ile795Leu)
c.2401A>C (p.Ile801Leu)
c.832A>C (p.Ile278Leu)
c.1243A>C (p.Ile415Leu)
c.2344A>C (p.Ile782Leu)
c.2431A>C (p.Ile811Leu)
c.2362A>C (p.Ile788Leu)
c.1894A>C (p.Ile632Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.41531060T=CA2425947685CASKc.2416A= (p.Ile806=)
c.2413A= (p.Ile805=)
c.2467A= (p.Ile823=)
c.2365A= (p.Ile789=)
c.2470A= (p.Ile824=)
c.1087A= (p.Ile363=)
c.2398A= (p.Ile800=)
c.2329A= (p.Ile777=)
n.1246A=
c.239A=
c.2449A= (p.Ile817=)
c.2380A= (p.Ile794=)
c.2452A= (p.Ile818=)
n.2698A=
c.2434A= (p.Ile812=)
c.1789A= (p.Ile597=)
c.2383A= (p.Ile795=)
c.2401A= (p.Ile801=)
c.832A= (p.Ile278=)
c.1243A= (p.Ile415=)
c.2344A= (p.Ile782=)
c.2431A= (p.Ile811=)
c.2362A= (p.Ile788=)
c.1894A= (p.Ile632=)
Xg.41531061G>ACA516099078CASKc.2415C>T (p.Thr805=)
c.2412C>T (p.Thr804=)
c.2466C>T (p.Thr822=)
c.2364C>T (p.Thr788=)
c.2469C>T (p.Thr823=)
c.1086C>T (p.Thr362=)
c.2397C>T (p.Thr799=)
c.2328C>T (p.Thr776=)
n.1245C>T
c.238C>T
c.2448C>T (p.Thr816=)
c.2379C>T (p.Thr793=)
c.2451C>T (p.Thr817=)
n.2697C>T
c.2433C>T (p.Thr811=)
c.1788C>T (p.Thr596=)
c.2382C>T (p.Thr794=)
c.2400C>T (p.Thr800=)
c.831C>T (p.Thr277=)
c.1242C>T (p.Thr414=)
c.2343C>T (p.Thr781=)
c.2430C>T (p.Thr810=)
c.2361C>T (p.Thr787=)
c.1893C>T (p.Thr631=)
Xg.41531061G>CCA516099079CASKc.2415C>G (p.Thr805=)
c.2412C>G (p.Thr804=)
c.2466C>G (p.Thr822=)
c.2364C>G (p.Thr788=)
c.2469C>G (p.Thr823=)
c.1086C>G (p.Thr362=)
c.2397C>G (p.Thr799=)
c.2328C>G (p.Thr776=)
n.1245C>G
c.238C>G
c.2448C>G (p.Thr816=)
c.2379C>G (p.Thr793=)
c.2451C>G (p.Thr817=)
n.2697C>G
c.2433C>G (p.Thr811=)
c.1788C>G (p.Thr596=)
c.2382C>G (p.Thr794=)
c.2400C>G (p.Thr800=)
c.831C>G (p.Thr277=)
c.1242C>G (p.Thr414=)
c.2343C>G (p.Thr781=)
c.2430C>G (p.Thr810=)
c.2361C>G (p.Thr787=)
c.1893C>G (p.Thr631=)
Xg.41531061G>TCA516099080CASKc.2415C>A (p.Thr805=)
c.2412C>A (p.Thr804=)
c.2466C>A (p.Thr822=)
c.2364C>A (p.Thr788=)
c.2469C>A (p.Thr823=)
c.1086C>A (p.Thr362=)
c.2397C>A (p.Thr799=)
c.2328C>A (p.Thr776=)
n.1245C>A
c.238C>A
c.2448C>A (p.Thr816=)
c.2379C>A (p.Thr793=)
c.2451C>A (p.Thr817=)
n.2697C>A
c.2433C>A (p.Thr811=)
c.1788C>A (p.Thr596=)
c.2382C>A (p.Thr794=)
c.2400C>A (p.Thr800=)
c.831C>A (p.Thr277=)
c.1242C>A (p.Thr414=)
c.2343C>A (p.Thr781=)
c.2430C>A (p.Thr810=)
c.2361C>A (p.Thr787=)
c.1893C>A (p.Thr631=)
Xg.41531062G>ACA412990096CASKc.2414C>T (p.Thr805Ile)
c.2411C>T (p.Thr804Ile)
c.2465C>T (p.Thr822Ile)
c.2363C>T (p.Thr788Ile)
c.2468C>T (p.Thr823Ile)
c.1085C>T (p.Thr362Ile)
c.2396C>T (p.Thr799Ile)
c.2327C>T (p.Thr776Ile)
n.1244C>T
c.237C>T
c.2447C>T (p.Thr816Ile)
c.2378C>T (p.Thr793Ile)
c.2450C>T (p.Thr817Ile)
n.2696C>T
c.2432C>T (p.Thr811Ile)
c.1787C>T (p.Thr596Ile)
c.2381C>T (p.Thr794Ile)
c.2399C>T (p.Thr800Ile)
c.830C>T (p.Thr277Ile)
c.1241C>T (p.Thr414Ile)
c.2342C>T (p.Thr781Ile)
c.2429C>T (p.Thr810Ile)
c.2360C>T (p.Thr787Ile)
c.1892C>T (p.Thr631Ile)
 dbSNP gnomAD v3 gnomAD v4
Xg.41531062G>CCA412990098CASKc.2414C>G (p.Thr805Ser)
c.2411C>G (p.Thr804Ser)
c.2465C>G (p.Thr822Ser)
c.2363C>G (p.Thr788Ser)
c.2468C>G (p.Thr823Ser)
c.1085C>G (p.Thr362Ser)
c.2396C>G (p.Thr799Ser)
c.2327C>G (p.Thr776Ser)
n.1244C>G
c.237C>G
c.2447C>G (p.Thr816Ser)
c.2378C>G (p.Thr793Ser)
c.2450C>G (p.Thr817Ser)
n.2696C>G
c.2432C>G (p.Thr811Ser)
c.1787C>G (p.Thr596Ser)
c.2381C>G (p.Thr794Ser)
c.2399C>G (p.Thr800Ser)
c.830C>G (p.Thr277Ser)
c.1241C>G (p.Thr414Ser)
c.2342C>G (p.Thr781Ser)
c.2429C>G (p.Thr810Ser)
c.2360C>G (p.Thr787Ser)
c.1892C>G (p.Thr631Ser)
Xg.41531062G=CA2425947686CASKc.2414C= (p.Thr805=)
c.2411C= (p.Thr804=)
c.2465C= (p.Thr822=)
c.2363C= (p.Thr788=)
c.2468C= (p.Thr823=)
c.1085C= (p.Thr362=)
c.2396C= (p.Thr799=)
c.2327C= (p.Thr776=)
n.1244C=
c.237C=
c.2447C= (p.Thr816=)
c.2378C= (p.Thr793=)
c.2450C= (p.Thr817=)
n.2696C=
c.2432C= (p.Thr811=)
c.1787C= (p.Thr596=)
c.2381C= (p.Thr794=)
c.2399C= (p.Thr800=)
c.830C= (p.Thr277=)
c.1241C= (p.Thr414=)
c.2342C= (p.Thr781=)
c.2429C= (p.Thr810=)
c.2360C= (p.Thr787=)
c.1892C= (p.Thr631=)
Xg.41531062G>TCA412990100CASKc.2414C>A (p.Thr805Asn)
c.2411C>A (p.Thr804Asn)
c.2465C>A (p.Thr822Asn)
c.2363C>A (p.Thr788Asn)
c.2468C>A (p.Thr823Asn)
c.1085C>A (p.Thr362Asn)
c.2396C>A (p.Thr799Asn)
c.2327C>A (p.Thr776Asn)
n.1244C>A
c.237C>A
c.2447C>A (p.Thr816Asn)
c.2378C>A (p.Thr793Asn)
c.2450C>A (p.Thr817Asn)
n.2696C>A
c.2432C>A (p.Thr811Asn)
c.1787C>A (p.Thr596Asn)
c.2381C>A (p.Thr794Asn)
c.2399C>A (p.Thr800Asn)
c.830C>A (p.Thr277Asn)
c.1241C>A (p.Thr414Asn)
c.2342C>A (p.Thr781Asn)
c.2429C>A (p.Thr810Asn)
c.2360C>A (p.Thr787Asn)
c.1892C>A (p.Thr631Asn)
Xg.41531063T>ACA412990102CASKc.2413A>T (p.Thr805Ser)
c.2410A>T (p.Thr804Ser)
c.2464A>T (p.Thr822Ser)
c.2362A>T (p.Thr788Ser)
c.2467A>T (p.Thr823Ser)
c.1084A>T (p.Thr362Ser)
c.2395A>T (p.Thr799Ser)
c.2326A>T (p.Thr776Ser)
n.1243A>T
c.236A>T
c.2446A>T (p.Thr816Ser)
c.2377A>T (p.Thr793Ser)
c.2449A>T (p.Thr817Ser)
n.2695A>T
c.2431A>T (p.Thr811Ser)
c.1786A>T (p.Thr596Ser)
c.2380A>T (p.Thr794Ser)
c.2398A>T (p.Thr800Ser)
c.829A>T (p.Thr277Ser)
c.1240A>T (p.Thr414Ser)
c.2341A>T (p.Thr781Ser)
c.2428A>T (p.Thr810Ser)
c.2359A>T (p.Thr787Ser)
c.1891A>T (p.Thr631Ser)
Xg.41531063T>CCA412990105CASKc.2413A>G (p.Thr805Ala)
c.2410A>G (p.Thr804Ala)
c.2464A>G (p.Thr822Ala)
c.2362A>G (p.Thr788Ala)
c.2467A>G (p.Thr823Ala)
c.1084A>G (p.Thr362Ala)
c.2395A>G (p.Thr799Ala)
c.2326A>G (p.Thr776Ala)
n.1243A>G
c.236A>G
c.2446A>G (p.Thr816Ala)
c.2377A>G (p.Thr793Ala)
c.2449A>G (p.Thr817Ala)
n.2695A>G
c.2431A>G (p.Thr811Ala)
c.1786A>G (p.Thr596Ala)
c.2380A>G (p.Thr794Ala)
c.2398A>G (p.Thr800Ala)
c.829A>G (p.Thr277Ala)
c.1240A>G (p.Thr414Ala)
c.2341A>G (p.Thr781Ala)
c.2428A>G (p.Thr810Ala)
c.2359A>G (p.Thr787Ala)
c.1891A>G (p.Thr631Ala)
Xg.41531063T>GCA412990103CASKc.2413A>C (p.Thr805Pro)
c.2410A>C (p.Thr804Pro)
c.2464A>C (p.Thr822Pro)
c.2362A>C (p.Thr788Pro)
c.2467A>C (p.Thr823Pro)
c.1084A>C (p.Thr362Pro)
c.2395A>C (p.Thr799Pro)
c.2326A>C (p.Thr776Pro)
n.1243A>C
c.236A>C
c.2446A>C (p.Thr816Pro)
c.2377A>C (p.Thr793Pro)
c.2449A>C (p.Thr817Pro)
n.2695A>C
c.2431A>C (p.Thr811Pro)
c.1786A>C (p.Thr596Pro)
c.2380A>C (p.Thr794Pro)
c.2398A>C (p.Thr800Pro)
c.829A>C (p.Thr277Pro)
c.1240A>C (p.Thr414Pro)
c.2341A>C (p.Thr781Pro)
c.2428A>C (p.Thr810Pro)
c.2359A>C (p.Thr787Pro)
c.1891A>C (p.Thr631Pro)
Xg.41531064C>ACA412990106CASKc.2412G>T (p.Glu804Asp)
c.2409G>T (p.Glu803Asp)
c.2463G>T (p.Glu821Asp)
c.2361G>T (p.Glu787Asp)
c.2466G>T (p.Glu822Asp)
c.1083G>T (p.Glu361Asp)
c.2394G>T (p.Glu798Asp)
c.2325G>T (p.Glu775Asp)
n.1242G>T
c.235G>T
c.2445G>T (p.Glu815Asp)
c.2376G>T (p.Glu792Asp)
c.2448G>T (p.Glu816Asp)
n.2694G>T
c.2430G>T (p.Glu810Asp)
c.1785G>T (p.Glu595Asp)
c.2379G>T (p.Glu793Asp)
c.2397G>T (p.Glu799Asp)
c.828G>T (p.Glu276Asp)
c.1239G>T (p.Glu413Asp)
c.2340G>T (p.Glu780Asp)
c.2427G>T (p.Glu809Asp)
c.2358G>T (p.Glu786Asp)
c.1890G>T (p.Glu630Asp)
Xg.41531064C>GCA412990108CASKc.2412G>C (p.Glu804Asp)
c.2409G>C (p.Glu803Asp)
c.2463G>C (p.Glu821Asp)
c.2361G>C (p.Glu787Asp)
c.2466G>C (p.Glu822Asp)
c.1083G>C (p.Glu361Asp)
c.2394G>C (p.Glu798Asp)
c.2325G>C (p.Glu775Asp)
n.1242G>C
c.235G>C
c.2445G>C (p.Glu815Asp)
c.2376G>C (p.Glu792Asp)
c.2448G>C (p.Glu816Asp)
n.2694G>C
c.2430G>C (p.Glu810Asp)
c.1785G>C (p.Glu595Asp)
c.2379G>C (p.Glu793Asp)
c.2397G>C (p.Glu799Asp)
c.828G>C (p.Glu276Asp)
c.1239G>C (p.Glu413Asp)
c.2340G>C (p.Glu780Asp)
c.2427G>C (p.Glu809Asp)
c.2358G>C (p.Glu786Asp)
c.1890G>C (p.Glu630Asp)
Xg.41531064C>TCA516099081CASKc.2412G>A (p.Glu804=)
c.2409G>A (p.Glu803=)
c.2463G>A (p.Glu821=)
c.2361G>A (p.Glu787=)
c.2466G>A (p.Glu822=)
c.1083G>A (p.Glu361=)
c.2394G>A (p.Glu798=)
c.2325G>A (p.Glu775=)
n.1242G>A
c.235G>A
c.2445G>A (p.Glu815=)
c.2376G>A (p.Glu792=)
c.2448G>A (p.Glu816=)
n.2694G>A
c.2430G>A (p.Glu810=)
c.1785G>A (p.Glu595=)
c.2379G>A (p.Glu793=)
c.2397G>A (p.Glu799=)
c.828G>A (p.Glu276=)
c.1239G>A (p.Glu413=)
c.2340G>A (p.Glu780=)
c.2427G>A (p.Glu809=)
c.2358G>A (p.Glu786=)
c.1890G>A (p.Glu630=)
Xg.41531065T>ACA412990110CASKc.2411A>T (p.Glu804Val)
c.2408A>T (p.Glu803Val)
c.2462A>T (p.Glu821Val)
c.2360A>T (p.Glu787Val)
c.2465A>T (p.Glu822Val)
c.1082A>T (p.Glu361Val)
c.2393A>T (p.Glu798Val)
c.2324A>T (p.Glu775Val)
n.1241A>T
c.234A>T
c.2444A>T (p.Glu815Val)
c.2375A>T (p.Glu792Val)
c.2447A>T (p.Glu816Val)
n.2693A>T
c.2429A>T (p.Glu810Val)
c.1784A>T (p.Glu595Val)
c.2378A>T (p.Glu793Val)
c.2396A>T (p.Glu799Val)
c.827A>T (p.Glu276Val)
c.1238A>T (p.Glu413Val)
c.2339A>T (p.Glu780Val)
c.2426A>T (p.Glu809Val)
c.2357A>T (p.Glu786Val)
c.1889A>T (p.Glu630Val)
Xg.41531065T>CCA412990111CASKc.2411A>G (p.Glu804Gly)
c.2408A>G (p.Glu803Gly)
c.2462A>G (p.Glu821Gly)
c.2360A>G (p.Glu787Gly)
c.2465A>G (p.Glu822Gly)
c.1082A>G (p.Glu361Gly)
c.2393A>G (p.Glu798Gly)
c.2324A>G (p.Glu775Gly)
n.1241A>G
c.234A>G
c.2444A>G (p.Glu815Gly)
c.2375A>G (p.Glu792Gly)
c.2447A>G (p.Glu816Gly)
n.2693A>G
c.2429A>G (p.Glu810Gly)
c.1784A>G (p.Glu595Gly)
c.2378A>G (p.Glu793Gly)
c.2396A>G (p.Glu799Gly)
c.827A>G (p.Glu276Gly)
c.1238A>G (p.Glu413Gly)
c.2339A>G (p.Glu780Gly)
c.2426A>G (p.Glu809Gly)
c.2357A>G (p.Glu786Gly)
c.1889A>G (p.Glu630Gly)
 gnomAD v4
Xg.41531065T>GCA412990113CASKc.2411A>C (p.Glu804Ala)
c.2408A>C (p.Glu803Ala)
c.2462A>C (p.Glu821Ala)
c.2360A>C (p.Glu787Ala)
c.2465A>C (p.Glu822Ala)
c.1082A>C (p.Glu361Ala)
c.2393A>C (p.Glu798Ala)
c.2324A>C (p.Glu775Ala)
n.1241A>C
c.234A>C
c.2444A>C (p.Glu815Ala)
c.2375A>C (p.Glu792Ala)
c.2447A>C (p.Glu816Ala)
n.2693A>C
c.2429A>C (p.Glu810Ala)
c.1784A>C (p.Glu595Ala)
c.2378A>C (p.Glu793Ala)
c.2396A>C (p.Glu799Ala)
c.827A>C (p.Glu276Ala)
c.1238A>C (p.Glu413Ala)
c.2339A>C (p.Glu780Ala)
c.2426A>C (p.Glu809Ala)
c.2357A>C (p.Glu786Ala)
c.1889A>C (p.Glu630Ala)
Xg.41531066C>ACA412990115CASKc.2410G>T (p.Glu804Ter)
c.2407G>T (p.Glu803Ter)
c.2461G>T (p.Glu821Ter)
c.2359G>T (p.Glu787Ter)
c.2464G>T (p.Glu822Ter)
c.1081G>T (p.Glu361Ter)
c.2392G>T (p.Glu798Ter)
c.2323G>T (p.Glu775Ter)
n.1240G>T
c.233G>T
c.2443G>T (p.Glu815Ter)
c.2374G>T (p.Glu792Ter)
c.2446G>T (p.Glu816Ter)
n.2692G>T
c.2428G>T (p.Glu810Ter)
c.1783G>T (p.Glu595Ter)
c.2377G>T (p.Glu793Ter)
c.2395G>T (p.Glu799Ter)
c.826G>T (p.Glu276Ter)
c.1237G>T (p.Glu413Ter)
c.2338G>T (p.Glu780Ter)
c.2425G>T (p.Glu809Ter)
c.2356G>T (p.Glu786Ter)
c.1888G>T (p.Glu630Ter)
Xg.41531066C>GCA412990117CASKc.2410G>C (p.Glu804Gln)
c.2407G>C (p.Glu803Gln)
c.2461G>C (p.Glu821Gln)
c.2359G>C (p.Glu787Gln)
c.2464G>C (p.Glu822Gln)
c.1081G>C (p.Glu361Gln)
c.2392G>C (p.Glu798Gln)
c.2323G>C (p.Glu775Gln)
n.1240G>C
c.233G>C
c.2443G>C (p.Glu815Gln)
c.2374G>C (p.Glu792Gln)
c.2446G>C (p.Glu816Gln)
n.2692G>C
c.2428G>C (p.Glu810Gln)
c.1783G>C (p.Glu595Gln)
c.2377G>C (p.Glu793Gln)
c.2395G>C (p.Glu799Gln)
c.826G>C (p.Glu276Gln)
c.1237G>C (p.Glu413Gln)
c.2338G>C (p.Glu780Gln)
c.2425G>C (p.Glu809Gln)
c.2356G>C (p.Glu786Gln)
c.1888G>C (p.Glu630Gln)
Xg.41531066C>TCA412990118CASKc.2410G>A (p.Glu804Lys)
c.2407G>A (p.Glu803Lys)
c.2461G>A (p.Glu821Lys)
c.2359G>A (p.Glu787Lys)
c.2464G>A (p.Glu822Lys)
c.1081G>A (p.Glu361Lys)
c.2392G>A (p.Glu798Lys)
c.2323G>A (p.Glu775Lys)
n.1240G>A
c.233G>A
c.2443G>A (p.Glu815Lys)
c.2374G>A (p.Glu792Lys)
c.2446G>A (p.Glu816Lys)
n.2692G>A
c.2428G>A (p.Glu810Lys)
c.1783G>A (p.Glu595Lys)
c.2377G>A (p.Glu793Lys)
c.2395G>A (p.Glu799Lys)
c.826G>A (p.Glu276Lys)
c.1237G>A (p.Glu413Lys)
c.2338G>A (p.Glu780Lys)
c.2425G>A (p.Glu809Lys)
c.2356G>A (p.Glu786Lys)
c.1888G>A (p.Glu630Lys)
Xg.41531067C>ACA516099082CASKc.2409G>T (p.Leu803=)
c.2406G>T (p.Leu802=)
c.2460G>T (p.Leu820=)
c.2358G>T (p.Leu786=)
c.2463G>T (p.Leu821=)
c.1080G>T (p.Leu360=)
c.2391G>T (p.Leu797=)
c.2322G>T (p.Leu774=)
n.1239G>T
c.232G>T
c.2442G>T (p.Leu814=)
c.2373G>T (p.Leu791=)
c.2445G>T (p.Leu815=)
n.2691G>T
c.2427G>T (p.Leu809=)
c.1782G>T (p.Leu594=)
c.2376G>T (p.Leu792=)
c.2394G>T (p.Leu798=)
c.825G>T (p.Leu275=)
c.1236G>T (p.Leu412=)
c.2337G>T (p.Leu779=)
c.2424G>T (p.Leu808=)
c.2355G>T (p.Leu785=)
c.1887G>T (p.Leu629=)
Xg.41531067C>GCA516099083CASKc.2409G>C (p.Leu803=)
c.2406G>C (p.Leu802=)
c.2460G>C (p.Leu820=)
c.2358G>C (p.Leu786=)
c.2463G>C (p.Leu821=)
c.1080G>C (p.Leu360=)
c.2391G>C (p.Leu797=)
c.2322G>C (p.Leu774=)
n.1239G>C
c.232G>C
c.2442G>C (p.Leu814=)
c.2373G>C (p.Leu791=)
c.2445G>C (p.Leu815=)
n.2691G>C
c.2427G>C (p.Leu809=)
c.1782G>C (p.Leu594=)
c.2376G>C (p.Leu792=)
c.2394G>C (p.Leu798=)
c.825G>C (p.Leu275=)
c.1236G>C (p.Leu412=)
c.2337G>C (p.Leu779=)
c.2424G>C (p.Leu808=)
c.2355G>C (p.Leu785=)
c.1887G>C (p.Leu629=)
Xg.41531067C>TCA516099084CASKc.2409G>A (p.Leu803=)
c.2406G>A (p.Leu802=)
c.2460G>A (p.Leu820=)
c.2358G>A (p.Leu786=)
c.2463G>A (p.Leu821=)
c.1080G>A (p.Leu360=)
c.2391G>A (p.Leu797=)
c.2322G>A (p.Leu774=)
n.1239G>A
c.232G>A
c.2442G>A (p.Leu814=)
c.2373G>A (p.Leu791=)
c.2445G>A (p.Leu815=)
n.2691G>A
c.2427G>A (p.Leu809=)
c.1782G>A (p.Leu594=)
c.2376G>A (p.Leu792=)
c.2394G>A (p.Leu798=)
c.825G>A (p.Leu275=)
c.1236G>A (p.Leu412=)
c.2337G>A (p.Leu779=)
c.2424G>A (p.Leu808=)
c.2355G>A (p.Leu785=)
c.1887G>A (p.Leu629=)
Xg.41531068A>CCA412990119CASKc.2408T>G (p.Leu803Arg)
c.2405T>G (p.Leu802Arg)
c.2459T>G (p.Leu820Arg)
c.2357T>G (p.Leu786Arg)
c.2462T>G (p.Leu821Arg)
c.1079T>G (p.Leu360Arg)
c.2390T>G (p.Leu797Arg)
c.2321T>G (p.Leu774Arg)
n.1238T>G
c.231T>G
c.2441T>G (p.Leu814Arg)
c.2372T>G (p.Leu791Arg)
c.2444T>G (p.Leu815Arg)
n.2690T>G
c.2426T>G (p.Leu809Arg)
c.1781T>G (p.Leu594Arg)
c.2375T>G (p.Leu792Arg)
c.2393T>G (p.Leu798Arg)
c.824T>G (p.Leu275Arg)
c.1235T>G (p.Leu412Arg)
c.2336T>G (p.Leu779Arg)
c.2423T>G (p.Leu808Arg)
c.2354T>G (p.Leu785Arg)
c.1886T>G (p.Leu629Arg)
Xg.41531068A>GCA412990121CASKc.2408T>C (p.Leu803Pro)
c.2405T>C (p.Leu802Pro)
c.2459T>C (p.Leu820Pro)
c.2357T>C (p.Leu786Pro)
c.2462T>C (p.Leu821Pro)
c.1079T>C (p.Leu360Pro)
c.2390T>C (p.Leu797Pro)
c.2321T>C (p.Leu774Pro)
n.1238T>C
c.231T>C
c.2441T>C (p.Leu814Pro)
c.2372T>C (p.Leu791Pro)
c.2444T>C (p.Leu815Pro)
n.2690T>C
c.2426T>C (p.Leu809Pro)
c.1781T>C (p.Leu594Pro)
c.2375T>C (p.Leu792Pro)
c.2393T>C (p.Leu798Pro)
c.824T>C (p.Leu275Pro)
c.1235T>C (p.Leu412Pro)
c.2336T>C (p.Leu779Pro)
c.2423T>C (p.Leu808Pro)
c.2354T>C (p.Leu785Pro)
c.1886T>C (p.Leu629Pro)
Xg.41531068A>TCA412990122CASKc.2408T>A (p.Leu803Gln)
c.2405T>A (p.Leu802Gln)
c.2459T>A (p.Leu820Gln)
c.2357T>A (p.Leu786Gln)
c.2462T>A (p.Leu821Gln)
c.1079T>A (p.Leu360Gln)
c.2390T>A (p.Leu797Gln)
c.2321T>A (p.Leu774Gln)
n.1238T>A
c.231T>A
c.2441T>A (p.Leu814Gln)
c.2372T>A (p.Leu791Gln)
c.2444T>A (p.Leu815Gln)
n.2690T>A
c.2426T>A (p.Leu809Gln)
c.1781T>A (p.Leu594Gln)
c.2375T>A (p.Leu792Gln)
c.2393T>A (p.Leu798Gln)
c.824T>A (p.Leu275Gln)
c.1235T>A (p.Leu412Gln)
c.2336T>A (p.Leu779Gln)
c.2423T>A (p.Leu808Gln)
c.2354T>A (p.Leu785Gln)
c.1886T>A (p.Leu629Gln)
Xg.41531069G>ACA516099092CASKc.2407C>T (p.Leu803=)
c.2404C>T (p.Leu802=)
c.2458C>T (p.Leu820=)
c.2356C>T (p.Leu786=)
c.2461C>T (p.Leu821=)
c.1078C>T (p.Leu360=)
c.2389C>T (p.Leu797=)
c.2320C>T (p.Leu774=)
n.1237C>T
c.230C>T
c.2440C>T (p.Leu814=)
c.2371C>T (p.Leu791=)
c.2443C>T (p.Leu815=)
n.2689C>T
c.2425C>T (p.Leu809=)
c.1780C>T (p.Leu594=)
c.2374C>T (p.Leu792=)
c.2392C>T (p.Leu798=)
c.823C>T (p.Leu275=)
c.1234C>T (p.Leu412=)
c.2335C>T (p.Leu779=)
c.2422C>T (p.Leu808=)
c.2353C>T (p.Leu785=)
c.1885C>T (p.Leu629=)
Xg.41531069G>CCA412990125CASKc.2407C>G (p.Leu803Val)
c.2404C>G (p.Leu802Val)
c.2458C>G (p.Leu820Val)
c.2356C>G (p.Leu786Val)
c.2461C>G (p.Leu821Val)
c.1078C>G (p.Leu360Val)
c.2389C>G (p.Leu797Val)
c.2320C>G (p.Leu774Val)
n.1237C>G
c.230C>G
c.2440C>G (p.Leu814Val)
c.2371C>G (p.Leu791Val)
c.2443C>G (p.Leu815Val)
n.2689C>G
c.2425C>G (p.Leu809Val)
c.1780C>G (p.Leu594Val)
c.2374C>G (p.Leu792Val)
c.2392C>G (p.Leu798Val)
c.823C>G (p.Leu275Val)
c.1234C>G (p.Leu412Val)
c.2335C>G (p.Leu779Val)
c.2422C>G (p.Leu808Val)
c.2353C>G (p.Leu785Val)
c.1885C>G (p.Leu629Val)
Xg.41531069G>TCA412990123CASKc.2407C>A (p.Leu803Met)
c.2404C>A (p.Leu802Met)
c.2458C>A (p.Leu820Met)
c.2356C>A (p.Leu786Met)
c.2461C>A (p.Leu821Met)
c.1078C>A (p.Leu360Met)
c.2389C>A (p.Leu797Met)
c.2320C>A (p.Leu774Met)
n.1237C>A
c.230C>A
c.2440C>A (p.Leu814Met)
c.2371C>A (p.Leu791Met)
c.2443C>A (p.Leu815Met)
n.2689C>A
c.2425C>A (p.Leu809Met)
c.1780C>A (p.Leu594Met)
c.2374C>A (p.Leu792Met)
c.2392C>A (p.Leu798Met)
c.823C>A (p.Leu275Met)
c.1234C>A (p.Leu412Met)
c.2335C>A (p.Leu779Met)
c.2422C>A (p.Leu808Met)
c.2353C>A (p.Leu785Met)
c.1885C>A (p.Leu629Met)
Xg.41531070T>ACA412990127CASKc.2406A>T (p.Lys802Asn)
c.2403A>T (p.Lys801Asn)
c.2457A>T (p.Lys819Asn)
c.2355A>T (p.Lys785Asn)
c.2460A>T (p.Lys820Asn)
c.1077A>T (p.Lys359Asn)
c.2388A>T (p.Lys796Asn)
c.2319A>T (p.Lys773Asn)
n.1236A>T
c.229A>T
c.2439A>T (p.Lys813Asn)
c.2370A>T (p.Lys790Asn)
c.2442A>T (p.Lys814Asn)
n.2688A>T
c.2424A>T (p.Lys808Asn)
c.1779A>T (p.Lys593Asn)
c.2373A>T (p.Lys791Asn)
c.2391A>T (p.Lys797Asn)
c.822A>T (p.Lys274Asn)
c.1233A>T (p.Lys411Asn)
c.2334A>T (p.Lys778Asn)
c.2421A>T (p.Lys807Asn)
c.2352A>T (p.Lys784Asn)
c.1884A>T (p.Lys628Asn)
Xg.41531070T>CCA516099096CASKc.2406A>G (p.Lys802=)
c.2403A>G (p.Lys801=)
c.2457A>G (p.Lys819=)
c.2355A>G (p.Lys785=)
c.2460A>G (p.Lys820=)
c.1077A>G (p.Lys359=)
c.2388A>G (p.Lys796=)
c.2319A>G (p.Lys773=)
n.1236A>G
c.229A>G
c.2439A>G (p.Lys813=)
c.2370A>G (p.Lys790=)
c.2442A>G (p.Lys814=)
n.2688A>G
c.2424A>G (p.Lys808=)
c.1779A>G (p.Lys593=)
c.2373A>G (p.Lys791=)
c.2391A>G (p.Lys797=)
c.822A>G (p.Lys274=)
c.1233A>G (p.Lys411=)
c.2334A>G (p.Lys778=)
c.2421A>G (p.Lys807=)
c.2352A>G (p.Lys784=)
c.1884A>G (p.Lys628=)
Xg.41531070T>GCA412990129CASKc.2406A>C (p.Lys802Asn)
c.2403A>C (p.Lys801Asn)
c.2457A>C (p.Lys819Asn)
c.2355A>C (p.Lys785Asn)
c.2460A>C (p.Lys820Asn)
c.1077A>C (p.Lys359Asn)
c.2388A>C (p.Lys796Asn)
c.2319A>C (p.Lys773Asn)
n.1236A>C
c.229A>C
c.2439A>C (p.Lys813Asn)
c.2370A>C (p.Lys790Asn)
c.2442A>C (p.Lys814Asn)
n.2688A>C
c.2424A>C (p.Lys808Asn)
c.1779A>C (p.Lys593Asn)
c.2373A>C (p.Lys791Asn)
c.2391A>C (p.Lys797Asn)
c.822A>C (p.Lys274Asn)
c.1233A>C (p.Lys411Asn)
c.2334A>C (p.Lys778Asn)
c.2421A>C (p.Lys807Asn)
c.2352A>C (p.Lys784Asn)
c.1884A>C (p.Lys628Asn)
Xg.41531071T>ACA412990131CASKc.2405A>T (p.Lys802Ile)
c.2402A>T (p.Lys801Ile)
c.2456A>T (p.Lys819Ile)
c.2354A>T (p.Lys785Ile)
c.2459A>T (p.Lys820Ile)
c.1076A>T (p.Lys359Ile)
c.2387A>T (p.Lys796Ile)
c.2318A>T (p.Lys773Ile)
n.1235A>T
c.228A>T
c.2438A>T (p.Lys813Ile)
c.2369A>T (p.Lys790Ile)
c.2441A>T (p.Lys814Ile)
n.2687A>T
c.2423A>T (p.Lys808Ile)
c.1778A>T (p.Lys593Ile)
c.2372A>T (p.Lys791Ile)
c.2390A>T (p.Lys797Ile)
c.821A>T (p.Lys274Ile)
c.1232A>T (p.Lys411Ile)
c.2333A>T (p.Lys778Ile)
c.2420A>T (p.Lys807Ile)
c.2351A>T (p.Lys784Ile)
c.1883A>T (p.Lys628Ile)
Xg.41531071T>CCA412990133CASKc.2405A>G (p.Lys802Arg)
c.2402A>G (p.Lys801Arg)
c.2456A>G (p.Lys819Arg)
c.2354A>G (p.Lys785Arg)
c.2459A>G (p.Lys820Arg)
c.1076A>G (p.Lys359Arg)
c.2387A>G (p.Lys796Arg)
c.2318A>G (p.Lys773Arg)
n.1235A>G
c.228A>G
c.2438A>G (p.Lys813Arg)
c.2369A>G (p.Lys790Arg)
c.2441A>G (p.Lys814Arg)
n.2687A>G
c.2423A>G (p.Lys808Arg)
c.1778A>G (p.Lys593Arg)
c.2372A>G (p.Lys791Arg)
c.2390A>G (p.Lys797Arg)
c.821A>G (p.Lys274Arg)
c.1232A>G (p.Lys411Arg)
c.2333A>G (p.Lys778Arg)
c.2420A>G (p.Lys807Arg)
c.2351A>G (p.Lys784Arg)
c.1883A>G (p.Lys628Arg)
Xg.41531071T>GCA412990134CASKc.2405A>C (p.Lys802Thr)
c.2402A>C (p.Lys801Thr)
c.2456A>C (p.Lys819Thr)
c.2354A>C (p.Lys785Thr)
c.2459A>C (p.Lys820Thr)
c.1076A>C (p.Lys359Thr)
c.2387A>C (p.Lys796Thr)
c.2318A>C (p.Lys773Thr)
n.1235A>C
c.228A>C
c.2438A>C (p.Lys813Thr)
c.2369A>C (p.Lys790Thr)
c.2441A>C (p.Lys814Thr)
n.2687A>C
c.2423A>C (p.Lys808Thr)
c.1778A>C (p.Lys593Thr)
c.2372A>C (p.Lys791Thr)
c.2390A>C (p.Lys797Thr)
c.821A>C (p.Lys274Thr)
c.1232A>C (p.Lys411Thr)
c.2333A>C (p.Lys778Thr)
c.2420A>C (p.Lys807Thr)
c.2351A>C (p.Lys784Thr)
c.1883A>C (p.Lys628Thr)
Xg.41531072T>ACA412990136CASKc.2404A>T (p.Lys802Ter)
c.2401A>T (p.Lys801Ter)
c.2455A>T (p.Lys819Ter)
c.2353A>T (p.Lys785Ter)
c.2458A>T (p.Lys820Ter)
c.1075A>T (p.Lys359Ter)
c.2386A>T (p.Lys796Ter)
c.2317A>T (p.Lys773Ter)
n.1234A>T
c.227A>T
c.2437A>T (p.Lys813Ter)
c.2368A>T (p.Lys790Ter)
c.2440A>T (p.Lys814Ter)
n.2686A>T
c.2422A>T (p.Lys808Ter)
c.1777A>T (p.Lys593Ter)
c.2371A>T (p.Lys791Ter)
c.2389A>T (p.Lys797Ter)
c.820A>T (p.Lys274Ter)
c.1231A>T (p.Lys411Ter)
c.2332A>T (p.Lys778Ter)
c.2419A>T (p.Lys807Ter)
c.2350A>T (p.Lys784Ter)
c.1882A>T (p.Lys628Ter)
Xg.41531072T>CCA412990137CASKc.2404A>G (p.Lys802Glu)
c.2401A>G (p.Lys801Glu)
c.2455A>G (p.Lys819Glu)
c.2353A>G (p.Lys785Glu)
c.2458A>G (p.Lys820Glu)
c.1075A>G (p.Lys359Glu)
c.2386A>G (p.Lys796Glu)
c.2317A>G (p.Lys773Glu)
n.1234A>G
c.227A>G
c.2437A>G (p.Lys813Glu)
c.2368A>G (p.Lys790Glu)
c.2440A>G (p.Lys814Glu)
n.2686A>G
c.2422A>G (p.Lys808Glu)
c.1777A>G (p.Lys593Glu)
c.2371A>G (p.Lys791Glu)
c.2389A>G (p.Lys797Glu)
c.820A>G (p.Lys274Glu)
c.1231A>G (p.Lys411Glu)
c.2332A>G (p.Lys778Glu)
c.2419A>G (p.Lys807Glu)
c.2350A>G (p.Lys784Glu)
c.1882A>G (p.Lys628Glu)
Xg.41531072T>GCA412990140CASKc.2404A>C (p.Lys802Gln)
c.2401A>C (p.Lys801Gln)
c.2455A>C (p.Lys819Gln)
c.2353A>C (p.Lys785Gln)
c.2458A>C (p.Lys820Gln)
c.1075A>C (p.Lys359Gln)
c.2386A>C (p.Lys796Gln)
c.2317A>C (p.Lys773Gln)
n.1234A>C
c.227A>C
c.2437A>C (p.Lys813Gln)
c.2368A>C (p.Lys790Gln)
c.2440A>C (p.Lys814Gln)
n.2686A>C
c.2422A>C (p.Lys808Gln)
c.1777A>C (p.Lys593Gln)
c.2371A>C (p.Lys791Gln)
c.2389A>C (p.Lys797Gln)
c.820A>C (p.Lys274Gln)
c.1231A>C (p.Lys411Gln)
c.2332A>C (p.Lys778Gln)
c.2419A>C (p.Lys807Gln)
c.2350A>C (p.Lys784Gln)
c.1882A>C (p.Lys628Gln)
Xg.41531073T>ACA516099110CASKc.2403A>T (p.Thr801=)
c.2400A>T (p.Thr800=)
c.2454A>T (p.Thr818=)
c.2352A>T (p.Thr784=)
c.2457A>T (p.Thr819=)
c.1074A>T (p.Thr358=)
c.2385A>T (p.Thr795=)
c.2316A>T (p.Thr772=)
n.1233A>T
c.226A>T
c.2436A>T (p.Thr812=)
c.2367A>T (p.Thr789=)
c.2439A>T (p.Thr813=)
n.2685A>T
c.2421A>T (p.Thr807=)
c.1776A>T (p.Thr592=)
c.2370A>T (p.Thr790=)
c.2388A>T (p.Thr796=)
c.819A>T (p.Thr273=)
c.1230A>T (p.Thr410=)
c.2331A>T (p.Thr777=)
c.2418A>T (p.Thr806=)
c.2349A>T (p.Thr783=)
c.1881A>T (p.Thr627=)
Xg.41531073T>CCA516099111CASKc.2403A>G (p.Thr801=)
c.2400A>G (p.Thr800=)
c.2454A>G (p.Thr818=)
c.2352A>G (p.Thr784=)
c.2457A>G (p.Thr819=)
c.1074A>G (p.Thr358=)
c.2385A>G (p.Thr795=)
c.2316A>G (p.Thr772=)
n.1233A>G
c.226A>G
c.2436A>G (p.Thr812=)
c.2367A>G (p.Thr789=)
c.2439A>G (p.Thr813=)
n.2685A>G
c.2421A>G (p.Thr807=)
c.1776A>G (p.Thr592=)
c.2370A>G (p.Thr790=)
c.2388A>G (p.Thr796=)
c.819A>G (p.Thr273=)
c.1230A>G (p.Thr410=)
c.2331A>G (p.Thr777=)
c.2418A>G (p.Thr806=)
c.2349A>G (p.Thr783=)
c.1881A>G (p.Thr627=)
Xg.41531073T>GCA516099113CASKc.2403A>C (p.Thr801=)
c.2400A>C (p.Thr800=)
c.2454A>C (p.Thr818=)
c.2352A>C (p.Thr784=)
c.2457A>C (p.Thr819=)
c.1074A>C (p.Thr358=)
c.2385A>C (p.Thr795=)
c.2316A>C (p.Thr772=)
n.1233A>C
c.226A>C
c.2436A>C (p.Thr812=)
c.2367A>C (p.Thr789=)
c.2439A>C (p.Thr813=)
n.2685A>C
c.2421A>C (p.Thr807=)
c.1776A>C (p.Thr592=)
c.2370A>C (p.Thr790=)
c.2388A>C (p.Thr796=)
c.819A>C (p.Thr273=)
c.1230A>C (p.Thr410=)
c.2331A>C (p.Thr777=)
c.2418A>C (p.Thr806=)
c.2349A>C (p.Thr783=)
c.1881A>C (p.Thr627=)
Xg.41531074G>ACA412990141CASKc.2402C>T (p.Thr801Ile)
c.2399C>T (p.Thr800Ile)
c.2453C>T (p.Thr818Ile)
c.2351C>T (p.Thr784Ile)
c.2456C>T (p.Thr819Ile)
c.1073C>T (p.Thr358Ile)
c.2384C>T (p.Thr795Ile)
c.2315C>T (p.Thr772Ile)
n.1232C>T
c.225C>T
c.2435C>T (p.Thr812Ile)
c.2366C>T (p.Thr789Ile)
c.2438C>T (p.Thr813Ile)
n.2684C>T
c.2420C>T (p.Thr807Ile)
c.1775C>T (p.Thr592Ile)
c.2369C>T (p.Thr790Ile)
c.2387C>T (p.Thr796Ile)
c.818C>T (p.Thr273Ile)
c.1229C>T (p.Thr410Ile)
c.2330C>T (p.Thr777Ile)
c.2417C>T (p.Thr806Ile)
c.2348C>T (p.Thr783Ile)
c.1880C>T (p.Thr627Ile)
Xg.41531074G>CCA412990142CASKc.2402C>G (p.Thr801Arg)
c.2399C>G (p.Thr800Arg)
c.2453C>G (p.Thr818Arg)
c.2351C>G (p.Thr784Arg)
c.2456C>G (p.Thr819Arg)
c.1073C>G (p.Thr358Arg)
c.2384C>G (p.Thr795Arg)
c.2315C>G (p.Thr772Arg)
n.1232C>G
c.225C>G
c.2435C>G (p.Thr812Arg)
c.2366C>G (p.Thr789Arg)
c.2438C>G (p.Thr813Arg)
n.2684C>G
c.2420C>G (p.Thr807Arg)
c.1775C>G (p.Thr592Arg)
c.2369C>G (p.Thr790Arg)
c.2387C>G (p.Thr796Arg)
c.818C>G (p.Thr273Arg)
c.1229C>G (p.Thr410Arg)
c.2330C>G (p.Thr777Arg)
c.2417C>G (p.Thr806Arg)
c.2348C>G (p.Thr783Arg)
c.1880C>G (p.Thr627Arg)
Xg.41531074G>TCA412990144CASKc.2402C>A (p.Thr801Lys)
c.2399C>A (p.Thr800Lys)
c.2453C>A (p.Thr818Lys)
c.2351C>A (p.Thr784Lys)
c.2456C>A (p.Thr819Lys)
c.1073C>A (p.Thr358Lys)
c.2384C>A (p.Thr795Lys)
c.2315C>A (p.Thr772Lys)
n.1232C>A
c.225C>A
c.2435C>A (p.Thr812Lys)
c.2366C>A (p.Thr789Lys)
c.2438C>A (p.Thr813Lys)
n.2684C>A
c.2420C>A (p.Thr807Lys)
c.1775C>A (p.Thr592Lys)
c.2369C>A (p.Thr790Lys)
c.2387C>A (p.Thr796Lys)
c.818C>A (p.Thr273Lys)
c.1229C>A (p.Thr410Lys)
c.2330C>A (p.Thr777Lys)
c.2417C>A (p.Thr806Lys)
c.2348C>A (p.Thr783Lys)
c.1880C>A (p.Thr627Lys)
Xg.41531075T>ACA412990146CASKc.2401A>T (p.Thr801Ser)
c.2398A>T (p.Thr800Ser)
c.2452A>T (p.Thr818Ser)
c.2350A>T (p.Thr784Ser)
c.2455A>T (p.Thr819Ser)
c.1072A>T (p.Thr358Ser)
c.2383A>T (p.Thr795Ser)
c.2314A>T (p.Thr772Ser)
n.1231A>T
c.224A>T
c.2434A>T (p.Thr812Ser)
c.2365A>T (p.Thr789Ser)
c.2437A>T (p.Thr813Ser)
n.2683A>T
c.2419A>T (p.Thr807Ser)
c.1774A>T (p.Thr592Ser)
c.2368A>T (p.Thr790Ser)
c.2386A>T (p.Thr796Ser)
c.817A>T (p.Thr273Ser)
c.1228A>T (p.Thr410Ser)
c.2329A>T (p.Thr777Ser)
c.2416A>T (p.Thr806Ser)
c.2347A>T (p.Thr783Ser)
c.1879A>T (p.Thr627Ser)
 ClinVar dbSNP
Xg.41531075T>CCA412990148CASKc.2401A>G (p.Thr801Ala)
c.2398A>G (p.Thr800Ala)
c.2452A>G (p.Thr818Ala)
c.2350A>G (p.Thr784Ala)
c.2455A>G (p.Thr819Ala)
c.1072A>G (p.Thr358Ala)
c.2383A>G (p.Thr795Ala)
c.2314A>G (p.Thr772Ala)
n.1231A>G
c.224A>G
c.2434A>G (p.Thr812Ala)
c.2365A>G (p.Thr789Ala)
c.2437A>G (p.Thr813Ala)
n.2683A>G
c.2419A>G (p.Thr807Ala)
c.1774A>G (p.Thr592Ala)
c.2368A>G (p.Thr790Ala)
c.2386A>G (p.Thr796Ala)
c.817A>G (p.Thr273Ala)
c.1228A>G (p.Thr410Ala)
c.2329A>G (p.Thr777Ala)
c.2416A>G (p.Thr806Ala)
c.2347A>G (p.Thr783Ala)
c.1879A>G (p.Thr627Ala)
Xg.41531075T>GCA412990149CASKc.2401A>C (p.Thr801Pro)
c.2398A>C (p.Thr800Pro)
c.2452A>C (p.Thr818Pro)
c.2350A>C (p.Thr784Pro)
c.2455A>C (p.Thr819Pro)
c.1072A>C (p.Thr358Pro)
c.2383A>C (p.Thr795Pro)
c.2314A>C (p.Thr772Pro)
n.1231A>C
c.224A>C
c.2434A>C (p.Thr812Pro)
c.2365A>C (p.Thr789Pro)
c.2437A>C (p.Thr813Pro)
n.2683A>C
c.2419A>C (p.Thr807Pro)
c.1774A>C (p.Thr592Pro)
c.2368A>C (p.Thr790Pro)
c.2386A>C (p.Thr796Pro)
c.817A>C (p.Thr273Pro)
c.1228A>C (p.Thr410Pro)
c.2329A>C (p.Thr777Pro)
c.2416A>C (p.Thr806Pro)
c.2347A>C (p.Thr783Pro)
c.1879A>C (p.Thr627Pro)
Xg.41531078_41531091delCA645605471CASKc.2388_2401del (p.Ala797LysfsTer?)
c.2385_2398del (p.Ala796LysfsTer?)
c.2439_2452del (p.Ala814LysfsTer?)
c.2337_2350del (p.Ala780LysfsTer?)
c.2442_2455del (p.Ala815LysfsTer?)
c.1059_1072del (p.Ala354LysfsTer?)
c.2370_2383del (p.Ala791LysfsTer?)
c.2301_2314del (p.Ala768LysfsTer?)
n.1218_1231del
c.211_224del
c.2421_2434del (p.Ala808LysfsTer?)
c.2352_2365del (p.Ala785LysfsTer?)
c.2424_2437del (p.Ala809LysfsTer?)
n.2670_2683del
c.2406_2419del (p.Ala803LysfsTer?)
c.1761_1774del (p.Ala588LysfsTer?)
c.2355_2368del (p.Ala786LysfsTer?)
c.2373_2386del (p.Ala792LysfsTer?)
c.804_817del (p.Ala269LysfsTer?)
c.1215_1228del (p.Ala406LysfsTer?)
c.2316_2329del (p.Ala773LysfsTer?)
c.2403_2416del (p.Ala802LysfsTer?)
c.2334_2347del (p.Ala779LysfsTer?)
c.1866_1879del (p.Ala623LysfsTer?)
 COSMIC
Xg.41531076C>ACA516099125CASKc.2400G>T (p.Gly800=)
c.2397G>T (p.Gly799=)
c.2451G>T (p.Gly817=)
c.2349G>T (p.Gly783=)
c.2454G>T (p.Gly818=)
c.1071G>T (p.Gly357=)
c.2382G>T (p.Gly794=)
c.2313G>T (p.Gly771=)
n.1230G>T
c.223G>T
c.2433G>T (p.Gly811=)
c.2364G>T (p.Gly788=)
c.2436G>T (p.Gly812=)
n.2682G>T
c.2418G>T (p.Gly806=)
c.1773G>T (p.Gly591=)
c.2367G>T (p.Gly789=)
c.2385G>T (p.Gly795=)
c.816G>T (p.Gly272=)
c.1227G>T (p.Gly409=)
c.2328G>T (p.Gly776=)
c.2415G>T (p.Gly805=)
c.2346G>T (p.Gly782=)
c.1878G>T (p.Gly626=)
Xg.41531076C=CA2425947687CASKc.2400G= (p.Gly800=)
c.2397G= (p.Gly799=)
c.2451G= (p.Gly817=)
c.2349G= (p.Gly783=)
c.2454G= (p.Gly818=)
c.1071G= (p.Gly357=)
c.2382G= (p.Gly794=)
c.2313G= (p.Gly771=)
n.1230G=
c.223G=
c.2433G= (p.Gly811=)
c.2364G= (p.Gly788=)
c.2436G= (p.Gly812=)
n.2682G=
c.2418G= (p.Gly806=)
c.1773G= (p.Gly591=)
c.2367G= (p.Gly789=)
c.2385G= (p.Gly795=)
c.816G= (p.Gly272=)
c.1227G= (p.Gly409=)
c.2328G= (p.Gly776=)
c.2415G= (p.Gly805=)
c.2346G= (p.Gly782=)
c.1878G= (p.Gly626=)
Xg.41531076C>GCA516099126CASKc.2400G>C (p.Gly800=)
c.2397G>C (p.Gly799=)
c.2451G>C (p.Gly817=)
c.2349G>C (p.Gly783=)
c.2454G>C (p.Gly818=)
c.1071G>C (p.Gly357=)
c.2382G>C (p.Gly794=)
c.2313G>C (p.Gly771=)
n.1230G>C
c.223G>C
c.2433G>C (p.Gly811=)
c.2364G>C (p.Gly788=)
c.2436G>C (p.Gly812=)
n.2682G>C
c.2418G>C (p.Gly806=)
c.1773G>C (p.Gly591=)
c.2367G>C (p.Gly789=)
c.2385G>C (p.Gly795=)
c.816G>C (p.Gly272=)
c.1227G>C (p.Gly409=)
c.2328G>C (p.Gly776=)
c.2415G>C (p.Gly805=)
c.2346G>C (p.Gly782=)
c.1878G>C (p.Gly626=)
Xg.41531076C>TCA516099128CASKc.2400G>A (p.Gly800=)
c.2397G>A (p.Gly799=)
c.2451G>A (p.Gly817=)
c.2349G>A (p.Gly783=)
c.2454G>A (p.Gly818=)
c.1071G>A (p.Gly357=)
c.2382G>A (p.Gly794=)
c.2313G>A (p.Gly771=)
n.1230G>A
c.223G>A
c.2433G>A (p.Gly811=)
c.2364G>A (p.Gly788=)
c.2436G>A (p.Gly812=)
n.2682G>A
c.2418G>A (p.Gly806=)
c.1773G>A (p.Gly591=)
c.2367G>A (p.Gly789=)
c.2385G>A (p.Gly795=)
c.816G>A (p.Gly272=)
c.1227G>A (p.Gly409=)
c.2328G>A (p.Gly776=)
c.2415G>A (p.Gly805=)
c.2346G>A (p.Gly782=)
c.1878G>A (p.Gly626=)
 dbSNP
Xg.41531077C>ACA412990154CASKc.2399G>T (p.Gly800Val)
c.2396G>T (p.Gly799Val)
c.2450G>T (p.Gly817Val)
c.2348G>T (p.Gly783Val)
c.2453G>T (p.Gly818Val)
c.1070G>T (p.Gly357Val)
c.2381G>T (p.Gly794Val)
c.2312G>T (p.Gly771Val)
n.1229G>T
c.222G>T
c.2432G>T (p.Gly811Val)
c.2363G>T (p.Gly788Val)
c.2435G>T (p.Gly812Val)
n.2681G>T
c.2417G>T (p.Gly806Val)
c.1772G>T (p.Gly591Val)
c.2366G>T (p.Gly789Val)
c.2384G>T (p.Gly795Val)
c.815G>T (p.Gly272Val)
c.1226G>T (p.Gly409Val)
c.2327G>T (p.Gly776Val)
c.2414G>T (p.Gly805Val)
c.2345G>T (p.Gly782Val)
c.1877G>T (p.Gly626Val)
Xg.41531077C>GCA412990151CASKc.2399G>C (p.Gly800Ala)
c.2396G>C (p.Gly799Ala)
c.2450G>C (p.Gly817Ala)
c.2348G>C (p.Gly783Ala)
c.2453G>C (p.Gly818Ala)
c.1070G>C (p.Gly357Ala)
c.2381G>C (p.Gly794Ala)
c.2312G>C (p.Gly771Ala)
n.1229G>C
c.222G>C
c.2432G>C (p.Gly811Ala)
c.2363G>C (p.Gly788Ala)
c.2435G>C (p.Gly812Ala)
n.2681G>C
c.2417G>C (p.Gly806Ala)
c.1772G>C (p.Gly591Ala)
c.2366G>C (p.Gly789Ala)
c.2384G>C (p.Gly795Ala)
c.815G>C (p.Gly272Ala)
c.1226G>C (p.Gly409Ala)
c.2327G>C (p.Gly776Ala)
c.2414G>C (p.Gly805Ala)
c.2345G>C (p.Gly782Ala)
c.1877G>C (p.Gly626Ala)
Xg.41531077C>TCA412990153CASKc.2399G>A (p.Gly800Glu)
c.2396G>A (p.Gly799Glu)
c.2450G>A (p.Gly817Glu)
c.2348G>A (p.Gly783Glu)
c.2453G>A (p.Gly818Glu)
c.1070G>A (p.Gly357Glu)
c.2381G>A (p.Gly794Glu)
c.2312G>A (p.Gly771Glu)
n.1229G>A
c.222G>A
c.2432G>A (p.Gly811Glu)
c.2363G>A (p.Gly788Glu)
c.2435G>A (p.Gly812Glu)
n.2681G>A
c.2417G>A (p.Gly806Glu)
c.1772G>A (p.Gly591Glu)
c.2366G>A (p.Gly789Glu)
c.2384G>A (p.Gly795Glu)
c.815G>A (p.Gly272Glu)
c.1226G>A (p.Gly409Glu)
c.2327G>A (p.Gly776Glu)
c.2414G>A (p.Gly805Glu)
c.2345G>A (p.Gly782Glu)
c.1877G>A (p.Gly626Glu)
Xg.41531078C>ACA412990156CASKc.2398G>T (p.Gly800Trp)
c.2395G>T (p.Gly799Trp)
c.2449G>T (p.Gly817Trp)
c.2347G>T (p.Gly783Trp)
c.2452G>T (p.Gly818Trp)
c.1069G>T (p.Gly357Trp)
c.2380G>T (p.Gly794Trp)
c.2311G>T (p.Gly771Trp)
n.1228G>T
c.221G>T
c.2431G>T (p.Gly811Trp)
c.2362G>T (p.Gly788Trp)
c.2434G>T (p.Gly812Trp)
n.2680G>T
c.2416G>T (p.Gly806Trp)
c.1771G>T (p.Gly591Trp)
c.2365G>T (p.Gly789Trp)
c.2383G>T (p.Gly795Trp)
c.814G>T (p.Gly272Trp)
c.1225G>T (p.Gly409Trp)
c.2326G>T (p.Gly776Trp)
c.2413G>T (p.Gly805Trp)
c.2344G>T (p.Gly782Trp)
c.1876G>T (p.Gly626Trp)
Xg.41531078C>GCA412990157CASKc.2398G>C (p.Gly800Arg)
c.2395G>C (p.Gly799Arg)
c.2449G>C (p.Gly817Arg)
c.2347G>C (p.Gly783Arg)
c.2452G>C (p.Gly818Arg)
c.1069G>C (p.Gly357Arg)
c.2380G>C (p.Gly794Arg)
c.2311G>C (p.Gly771Arg)
n.1228G>C
c.221G>C
c.2431G>C (p.Gly811Arg)
c.2362G>C (p.Gly788Arg)
c.2434G>C (p.Gly812Arg)
n.2680G>C
c.2416G>C (p.Gly806Arg)
c.1771G>C (p.Gly591Arg)
c.2365G>C (p.Gly789Arg)
c.2383G>C (p.Gly795Arg)
c.814G>C (p.Gly272Arg)
c.1225G>C (p.Gly409Arg)
c.2326G>C (p.Gly776Arg)
c.2413G>C (p.Gly805Arg)
c.2344G>C (p.Gly782Arg)
c.1876G>C (p.Gly626Arg)
Xg.41531078C>TCA412990159CASKc.2398G>A (p.Gly800Arg)
c.2395G>A (p.Gly799Arg)
c.2449G>A (p.Gly817Arg)
c.2347G>A (p.Gly783Arg)
c.2452G>A (p.Gly818Arg)
c.1069G>A (p.Gly357Arg)
c.2380G>A (p.Gly794Arg)
c.2311G>A (p.Gly771Arg)
n.1228G>A
c.221G>A
c.2431G>A (p.Gly811Arg)
c.2362G>A (p.Gly788Arg)
c.2434G>A (p.Gly812Arg)
n.2680G>A
c.2416G>A (p.Gly806Arg)
c.1771G>A (p.Gly591Arg)
c.2365G>A (p.Gly789Arg)
c.2383G>A (p.Gly795Arg)
c.814G>A (p.Gly272Arg)
c.1225G>A (p.Gly409Arg)
c.2326G>A (p.Gly776Arg)
c.2413G>A (p.Gly805Arg)
c.2344G>A (p.Gly782Arg)
c.1876G>A (p.Gly626Arg)
 ClinVar
Xg.41531079A>CCA412990161CASKc.2397T>G (p.Tyr799Ter)
c.2394T>G (p.Tyr798Ter)
c.2448T>G (p.Tyr816Ter)
c.2346T>G (p.Tyr782Ter)
c.2451T>G (p.Tyr817Ter)
c.1068T>G (p.Tyr356Ter)
c.2379T>G (p.Tyr793Ter)
c.2310T>G (p.Tyr770Ter)
n.1227T>G
c.220T>G
c.2430T>G (p.Tyr810Ter)
c.2361T>G (p.Tyr787Ter)
c.2433T>G (p.Tyr811Ter)
n.2679T>G
c.2415T>G (p.Tyr805Ter)
c.1770T>G (p.Tyr590Ter)
c.2364T>G (p.Tyr788Ter)
c.2382T>G (p.Tyr794Ter)
c.813T>G (p.Tyr271Ter)
c.1224T>G (p.Tyr408Ter)
c.2325T>G (p.Tyr775Ter)
c.2412T>G (p.Tyr804Ter)
c.2343T>G (p.Tyr781Ter)
c.1875T>G (p.Tyr625Ter)
Xg.41531079A>GCA516099133CASKc.2397T>C (p.Tyr799=)
c.2394T>C (p.Tyr798=)
c.2448T>C (p.Tyr816=)
c.2346T>C (p.Tyr782=)
c.2451T>C (p.Tyr817=)
c.1068T>C (p.Tyr356=)
c.2379T>C (p.Tyr793=)
c.2310T>C (p.Tyr770=)
n.1227T>C
c.220T>C
c.2430T>C (p.Tyr810=)
c.2361T>C (p.Tyr787=)
c.2433T>C (p.Tyr811=)
n.2679T>C
c.2415T>C (p.Tyr805=)
c.1770T>C (p.Tyr590=)
c.2364T>C (p.Tyr788=)
c.2382T>C (p.Tyr794=)
c.813T>C (p.Tyr271=)
c.1224T>C (p.Tyr408=)
c.2325T>C (p.Tyr775=)
c.2412T>C (p.Tyr804=)
c.2343T>C (p.Tyr781=)
c.1875T>C (p.Tyr625=)
Xg.41531079A>TCA412990163CASKc.2397T>A (p.Tyr799Ter)
c.2394T>A (p.Tyr798Ter)
c.2448T>A (p.Tyr816Ter)
c.2346T>A (p.Tyr782Ter)
c.2451T>A (p.Tyr817Ter)
c.1068T>A (p.Tyr356Ter)
c.2379T>A (p.Tyr793Ter)
c.2310T>A (p.Tyr770Ter)
n.1227T>A
c.220T>A
c.2430T>A (p.Tyr810Ter)
c.2361T>A (p.Tyr787Ter)
c.2433T>A (p.Tyr811Ter)
n.2679T>A
c.2415T>A (p.Tyr805Ter)
c.1770T>A (p.Tyr590Ter)
c.2364T>A (p.Tyr788Ter)
c.2382T>A (p.Tyr794Ter)
c.813T>A (p.Tyr271Ter)
c.1224T>A (p.Tyr408Ter)
c.2325T>A (p.Tyr775Ter)
c.2412T>A (p.Tyr804Ter)
c.2343T>A (p.Tyr781Ter)
c.1875T>A (p.Tyr625Ter)
Xg.41531080T>ACA412990164CASKc.2396A>T (p.Tyr799Phe)
c.2393A>T (p.Tyr798Phe)
c.2447A>T (p.Tyr816Phe)
c.2345A>T (p.Tyr782Phe)
c.2450A>T (p.Tyr817Phe)
c.1067A>T (p.Tyr356Phe)
c.2378A>T (p.Tyr793Phe)
c.2309A>T (p.Tyr770Phe)
n.1226A>T
c.219A>T
c.2429A>T (p.Tyr810Phe)
c.2360A>T (p.Tyr787Phe)
c.2432A>T (p.Tyr811Phe)
n.2678A>T
c.2414A>T (p.Tyr805Phe)
c.1769A>T (p.Tyr590Phe)
c.2363A>T (p.Tyr788Phe)
c.2381A>T (p.Tyr794Phe)
c.812A>T (p.Tyr271Phe)
c.1223A>T (p.Tyr408Phe)
c.2324A>T (p.Tyr775Phe)
c.2411A>T (p.Tyr804Phe)
c.2342A>T (p.Tyr781Phe)
c.1874A>T (p.Tyr625Phe)
Xg.41531080T>CCA412990167CASKc.2396A>G (p.Tyr799Cys)
c.2393A>G (p.Tyr798Cys)
c.2447A>G (p.Tyr816Cys)
c.2345A>G (p.Tyr782Cys)
c.2450A>G (p.Tyr817Cys)
c.1067A>G (p.Tyr356Cys)
c.2378A>G (p.Tyr793Cys)
c.2309A>G (p.Tyr770Cys)
n.1226A>G
c.219A>G
c.2429A>G (p.Tyr810Cys)
c.2360A>G (p.Tyr787Cys)
c.2432A>G (p.Tyr811Cys)
n.2678A>G
c.2414A>G (p.Tyr805Cys)
c.1769A>G (p.Tyr590Cys)
c.2363A>G (p.Tyr788Cys)
c.2381A>G (p.Tyr794Cys)
c.812A>G (p.Tyr271Cys)
c.1223A>G (p.Tyr408Cys)
c.2324A>G (p.Tyr775Cys)
c.2411A>G (p.Tyr804Cys)
c.2342A>G (p.Tyr781Cys)
c.1874A>G (p.Tyr625Cys)
 dbSNP gnomAD v2 gnomAD v4
Xg.41531080T>GCA412990168CASKc.2396A>C (p.Tyr799Ser)
c.2393A>C (p.Tyr798Ser)
c.2447A>C (p.Tyr816Ser)
c.2345A>C (p.Tyr782Ser)
c.2450A>C (p.Tyr817Ser)
c.1067A>C (p.Tyr356Ser)
c.2378A>C (p.Tyr793Ser)
c.2309A>C (p.Tyr770Ser)
n.1226A>C
c.219A>C
c.2429A>C (p.Tyr810Ser)
c.2360A>C (p.Tyr787Ser)
c.2432A>C (p.Tyr811Ser)
n.2678A>C
c.2414A>C (p.Tyr805Ser)
c.1769A>C (p.Tyr590Ser)
c.2363A>C (p.Tyr788Ser)
c.2381A>C (p.Tyr794Ser)
c.812A>C (p.Tyr271Ser)
c.1223A>C (p.Tyr408Ser)
c.2324A>C (p.Tyr775Ser)
c.2411A>C (p.Tyr804Ser)
c.2342A>C (p.Tyr781Ser)
c.1874A>C (p.Tyr625Ser)
Xg.41531080T=CA2425947688CASKc.2396A= (p.Tyr799=)
c.2393A= (p.Tyr798=)
c.2447A= (p.Tyr816=)
c.2345A= (p.Tyr782=)
c.2450A= (p.Tyr817=)
c.1067A= (p.Tyr356=)
c.2378A= (p.Tyr793=)
c.2309A= (p.Tyr770=)
n.1226A=
c.219A=
c.2429A= (p.Tyr810=)
c.2360A= (p.Tyr787=)
c.2432A= (p.Tyr811=)
n.2678A=
c.2414A= (p.Tyr805=)
c.1769A= (p.Tyr590=)
c.2363A= (p.Tyr788=)
c.2381A= (p.Tyr794=)
c.812A= (p.Tyr271=)
c.1223A= (p.Tyr408=)
c.2324A= (p.Tyr775=)
c.2411A= (p.Tyr804=)
c.2342A= (p.Tyr781=)
c.1874A= (p.Tyr625=)
Xg.41531081A>CCA412990170CASKc.2395T>G (p.Tyr799Asp)
c.2392T>G (p.Tyr798Asp)
c.2446T>G (p.Tyr816Asp)
c.2344T>G (p.Tyr782Asp)
c.2449T>G (p.Tyr817Asp)
c.1066T>G (p.Tyr356Asp)
c.2377T>G (p.Tyr793Asp)
c.2308T>G (p.Tyr770Asp)
n.1225T>G
c.218T>G
c.2428T>G (p.Tyr810Asp)
c.2359T>G (p.Tyr787Asp)
c.2431T>G (p.Tyr811Asp)
n.2677T>G
c.2413T>G (p.Tyr805Asp)
c.1768T>G (p.Tyr590Asp)
c.2362T>G (p.Tyr788Asp)
c.2380T>G (p.Tyr794Asp)
c.811T>G (p.Tyr271Asp)
c.1222T>G (p.Tyr408Asp)
c.2323T>G (p.Tyr775Asp)
c.2410T>G (p.Tyr804Asp)
c.2341T>G (p.Tyr781Asp)
c.1873T>G (p.Tyr625Asp)
Xg.41531081A>GCA412990171CASKc.2395T>C (p.Tyr799His)
c.2392T>C (p.Tyr798His)
c.2446T>C (p.Tyr816His)
c.2344T>C (p.Tyr782His)
c.2449T>C (p.Tyr817His)
c.1066T>C (p.Tyr356His)
c.2377T>C (p.Tyr793His)
c.2308T>C (p.Tyr770His)
n.1225T>C
c.218T>C
c.2428T>C (p.Tyr810His)
c.2359T>C (p.Tyr787His)
c.2431T>C (p.Tyr811His)
n.2677T>C
c.2413T>C (p.Tyr805His)
c.1768T>C (p.Tyr590His)
c.2362T>C (p.Tyr788His)
c.2380T>C (p.Tyr794His)
c.811T>C (p.Tyr271His)
c.1222T>C (p.Tyr408His)
c.2323T>C (p.Tyr775His)
c.2410T>C (p.Tyr804His)
c.2341T>C (p.Tyr781His)
c.1873T>C (p.Tyr625His)
 ClinVar
Xg.41531081A>TCA412990173CASKc.2395T>A (p.Tyr799Asn)
c.2392T>A (p.Tyr798Asn)
c.2446T>A (p.Tyr816Asn)
c.2344T>A (p.Tyr782Asn)
c.2449T>A (p.Tyr817Asn)
c.1066T>A (p.Tyr356Asn)
c.2377T>A (p.Tyr793Asn)
c.2308T>A (p.Tyr770Asn)
n.1225T>A
c.218T>A
c.2428T>A (p.Tyr810Asn)
c.2359T>A (p.Tyr787Asn)
c.2431T>A (p.Tyr811Asn)
n.2677T>A
c.2413T>A (p.Tyr805Asn)
c.1768T>A (p.Tyr590Asn)
c.2362T>A (p.Tyr788Asn)
c.2380T>A (p.Tyr794Asn)
c.811T>A (p.Tyr271Asn)
c.1222T>A (p.Tyr408Asn)
c.2323T>A (p.Tyr775Asn)
c.2410T>A (p.Tyr804Asn)
c.2341T>A (p.Tyr781Asn)
c.1873T>A (p.Tyr625Asn)
Xg.41531082C>ACA412990177CASKc.2394G>T (p.Met798Ile)
c.2391G>T (p.Met797Ile)
c.2445G>T (p.Met815Ile)
c.2343G>T (p.Met781Ile)
c.2448G>T (p.Met816Ile)
c.1065G>T (p.Met355Ile)
c.2376G>T (p.Met792Ile)
c.2307G>T (p.Met769Ile)
n.1224G>T
c.217G>T
c.2427G>T (p.Met809Ile)
c.2358G>T (p.Met786Ile)
c.2430G>T (p.Met810Ile)
n.2676G>T
c.2412G>T (p.Met804Ile)
c.1767G>T (p.Met589Ile)
c.2361G>T (p.Met787Ile)
c.2379G>T (p.Met793Ile)
c.810G>T (p.Met270Ile)
c.1221G>T (p.Met407Ile)
c.2322G>T (p.Met774Ile)
c.2409G>T (p.Met803Ile)
c.2340G>T (p.Met780Ile)
c.1872G>T (p.Met624Ile)
Xg.41531082C>GCA412990178CASKc.2394G>C (p.Met798Ile)
c.2391G>C (p.Met797Ile)
c.2445G>C (p.Met815Ile)
c.2343G>C (p.Met781Ile)
c.2448G>C (p.Met816Ile)
c.1065G>C (p.Met355Ile)
c.2376G>C (p.Met792Ile)
c.2307G>C (p.Met769Ile)
n.1224G>C
c.217G>C
c.2427G>C (p.Met809Ile)
c.2358G>C (p.Met786Ile)
c.2430G>C (p.Met810Ile)
n.2676G>C
c.2412G>C (p.Met804Ile)
c.1767G>C (p.Met589Ile)
c.2361G>C (p.Met787Ile)
c.2379G>C (p.Met793Ile)
c.810G>C (p.Met270Ile)
c.1221G>C (p.Met407Ile)
c.2322G>C (p.Met774Ile)
c.2409G>C (p.Met803Ile)
c.2340G>C (p.Met780Ile)
c.1872G>C (p.Met624Ile)
Xg.41531082C>TCA412990175CASKc.2394G>A (p.Met798Ile)
c.2391G>A (p.Met797Ile)
c.2445G>A (p.Met815Ile)
c.2343G>A (p.Met781Ile)
c.2448G>A (p.Met816Ile)
c.1065G>A (p.Met355Ile)
c.2376G>A (p.Met792Ile)
c.2307G>A (p.Met769Ile)
n.1224G>A
c.217G>A
c.2427G>A (p.Met809Ile)
c.2358G>A (p.Met786Ile)
c.2430G>A (p.Met810Ile)
n.2676G>A
c.2412G>A (p.Met804Ile)
c.1767G>A (p.Met589Ile)
c.2361G>A (p.Met787Ile)
c.2379G>A (p.Met793Ile)
c.810G>A (p.Met270Ile)
c.1221G>A (p.Met407Ile)
c.2322G>A (p.Met774Ile)
c.2409G>A (p.Met803Ile)
c.2340G>A (p.Met780Ile)
c.1872G>A (p.Met624Ile)
 gnomAD v4
Xg.41531083A=CA2425947689CASKc.2393T= (p.Met798=)
c.2390T= (p.Met797=)
c.2444T= (p.Met815=)
c.2342T= (p.Met781=)
c.2447T= (p.Met816=)
c.1064T= (p.Met355=)
c.2375T= (p.Met792=)
c.2306T= (p.Met769=)
n.1223T=
c.216T=
c.2426T= (p.Met809=)
c.2357T= (p.Met786=)
c.2429T= (p.Met810=)
n.2675T=
c.2411T= (p.Met804=)
c.1766T= (p.Met589=)
c.2360T= (p.Met787=)
c.2378T= (p.Met793=)
c.809T= (p.Met270=)
c.1220T= (p.Met407=)
c.2321T= (p.Met774=)
c.2408T= (p.Met803=)
c.2339T= (p.Met780=)
c.1871T= (p.Met624=)
Xg.41531083A>CCA412990180CASKc.2393T>G (p.Met798Arg)
c.2390T>G (p.Met797Arg)
c.2444T>G (p.Met815Arg)
c.2342T>G (p.Met781Arg)
c.2447T>G (p.Met816Arg)
c.1064T>G (p.Met355Arg)
c.2375T>G (p.Met792Arg)
c.2306T>G (p.Met769Arg)
n.1223T>G
c.216T>G
c.2426T>G (p.Met809Arg)
c.2357T>G (p.Met786Arg)
c.2429T>G (p.Met810Arg)
n.2675T>G
c.2411T>G (p.Met804Arg)
c.1766T>G (p.Met589Arg)
c.2360T>G (p.Met787Arg)
c.2378T>G (p.Met793Arg)
c.809T>G (p.Met270Arg)
c.1220T>G (p.Met407Arg)
c.2321T>G (p.Met774Arg)
c.2408T>G (p.Met803Arg)
c.2339T>G (p.Met780Arg)
c.1871T>G (p.Met624Arg)
Xg.41531083A>GCA412990182CASKc.2393T>C (p.Met798Thr)
c.2390T>C (p.Met797Thr)
c.2444T>C (p.Met815Thr)
c.2342T>C (p.Met781Thr)
c.2447T>C (p.Met816Thr)
c.1064T>C (p.Met355Thr)
c.2375T>C (p.Met792Thr)
c.2306T>C (p.Met769Thr)
n.1223T>C
c.216T>C
c.2426T>C (p.Met809Thr)
c.2357T>C (p.Met786Thr)
c.2429T>C (p.Met810Thr)
n.2675T>C
c.2411T>C (p.Met804Thr)
c.1766T>C (p.Met589Thr)
c.2360T>C (p.Met787Thr)
c.2378T>C (p.Met793Thr)
c.809T>C (p.Met270Thr)
c.1220T>C (p.Met407Thr)
c.2321T>C (p.Met774Thr)
c.2408T>C (p.Met803Thr)
c.2339T>C (p.Met780Thr)
c.1871T>C (p.Met624Thr)
 gnomAD v4
Xg.41531083A>TCA10390021CASKc.2393T>A (p.Met798Lys)
c.2390T>A (p.Met797Lys)
c.2444T>A (p.Met815Lys)
c.2342T>A (p.Met781Lys)
c.2447T>A (p.Met816Lys)
c.1064T>A (p.Met355Lys)
c.2375T>A (p.Met792Lys)
c.2306T>A (p.Met769Lys)
n.1223T>A
c.216T>A
c.2426T>A (p.Met809Lys)
c.2357T>A (p.Met786Lys)
c.2429T>A (p.Met810Lys)
n.2675T>A
c.2411T>A (p.Met804Lys)
c.1766T>A (p.Met589Lys)
c.2360T>A (p.Met787Lys)
c.2378T>A (p.Met793Lys)
c.809T>A (p.Met270Lys)
c.1220T>A (p.Met407Lys)
c.2321T>A (p.Met774Lys)
c.2408T>A (p.Met803Lys)
c.2339T>A (p.Met780Lys)
c.1871T>A (p.Met624Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531084T>ACA412990185CASKc.2392A>T (p.Met798Leu)
c.2389A>T (p.Met797Leu)
c.2443A>T (p.Met815Leu)
c.2341A>T (p.Met781Leu)
c.2446A>T (p.Met816Leu)
c.1063A>T (p.Met355Leu)
c.2374A>T (p.Met792Leu)
c.2305A>T (p.Met769Leu)
n.1222A>T
c.215A>T
c.2425A>T (p.Met809Leu)
c.2356A>T (p.Met786Leu)
c.2428A>T (p.Met810Leu)
n.2674A>T
c.2410A>T (p.Met804Leu)
c.1765A>T (p.Met589Leu)
c.2359A>T (p.Met787Leu)
c.2377A>T (p.Met793Leu)
c.808A>T (p.Met270Leu)
c.1219A>T (p.Met407Leu)
c.2320A>T (p.Met774Leu)
c.2407A>T (p.Met803Leu)
c.2338A>T (p.Met780Leu)
c.1870A>T (p.Met624Leu)
Xg.41531084T>CCA412990186CASKc.2392A>G (p.Met798Val)
c.2389A>G (p.Met797Val)
c.2443A>G (p.Met815Val)
c.2341A>G (p.Met781Val)
c.2446A>G (p.Met816Val)
c.1063A>G (p.Met355Val)
c.2374A>G (p.Met792Val)
c.2305A>G (p.Met769Val)
n.1222A>G
c.215A>G
c.2425A>G (p.Met809Val)
c.2356A>G (p.Met786Val)
c.2428A>G (p.Met810Val)
n.2674A>G
c.2410A>G (p.Met804Val)
c.1765A>G (p.Met589Val)
c.2359A>G (p.Met787Val)
c.2377A>G (p.Met793Val)
c.808A>G (p.Met270Val)
c.1219A>G (p.Met407Val)
c.2320A>G (p.Met774Val)
c.2407A>G (p.Met803Val)
c.2338A>G (p.Met780Val)
c.1870A>G (p.Met624Val)
Xg.41531084T>GCA412990188CASKc.2392A>C (p.Met798Leu)
c.2389A>C (p.Met797Leu)
c.2443A>C (p.Met815Leu)
c.2341A>C (p.Met781Leu)
c.2446A>C (p.Met816Leu)
c.1063A>C (p.Met355Leu)
c.2374A>C (p.Met792Leu)
c.2305A>C (p.Met769Leu)
n.1222A>C
c.215A>C
c.2425A>C (p.Met809Leu)
c.2356A>C (p.Met786Leu)
c.2428A>C (p.Met810Leu)
n.2674A>C
c.2410A>C (p.Met804Leu)
c.1765A>C (p.Met589Leu)
c.2359A>C (p.Met787Leu)
c.2377A>C (p.Met793Leu)
c.808A>C (p.Met270Leu)
c.1219A>C (p.Met407Leu)
c.2320A>C (p.Met774Leu)
c.2407A>C (p.Met803Leu)
c.2338A>C (p.Met780Leu)
c.1870A>C (p.Met624Leu)
Xg.41531085C>ACA516099164CASKc.2391G>T (p.Ala797=)
c.2388G>T (p.Ala796=)
c.2442G>T (p.Ala814=)
c.2340G>T (p.Ala780=)
c.2445G>T (p.Ala815=)
c.1062G>T (p.Ala354=)
c.2373G>T (p.Ala791=)
c.2304G>T (p.Ala768=)
n.1221G>T
c.214G>T
c.2424G>T (p.Ala808=)
c.2355G>T (p.Ala785=)
c.2427G>T (p.Ala809=)
n.2673G>T
c.2409G>T (p.Ala803=)
c.1764G>T (p.Ala588=)
c.2358G>T (p.Ala786=)
c.2376G>T (p.Ala792=)
c.807G>T (p.Ala269=)
c.1218G>T (p.Ala406=)
c.2319G>T (p.Ala773=)
c.2406G>T (p.Ala802=)
c.2337G>T (p.Ala779=)
c.1869G>T (p.Ala623=)
 ClinVar gnomAD v4
Xg.41531085C=CA2425947690CASKc.2391G= (p.Ala797=)
c.2388G= (p.Ala796=)
c.2442G= (p.Ala814=)
c.2340G= (p.Ala780=)
c.2445G= (p.Ala815=)
c.1062G= (p.Ala354=)
c.2373G= (p.Ala791=)
c.2304G= (p.Ala768=)
n.1221G=
c.214G=
c.2424G= (p.Ala808=)
c.2355G= (p.Ala785=)
c.2427G= (p.Ala809=)
n.2673G=
c.2409G= (p.Ala803=)
c.1764G= (p.Ala588=)
c.2358G= (p.Ala786=)
c.2376G= (p.Ala792=)
c.807G= (p.Ala269=)
c.1218G= (p.Ala406=)
c.2319G= (p.Ala773=)
c.2406G= (p.Ala802=)
c.2337G= (p.Ala779=)
c.1869G= (p.Ala623=)
Xg.41531085C>GCA516099162CASKc.2391G>C (p.Ala797=)
c.2388G>C (p.Ala796=)
c.2442G>C (p.Ala814=)
c.2340G>C (p.Ala780=)
c.2445G>C (p.Ala815=)
c.1062G>C (p.Ala354=)
c.2373G>C (p.Ala791=)
c.2304G>C (p.Ala768=)
n.1221G>C
c.214G>C
c.2424G>C (p.Ala808=)
c.2355G>C (p.Ala785=)
c.2427G>C (p.Ala809=)
n.2673G>C
c.2409G>C (p.Ala803=)
c.1764G>C (p.Ala588=)
c.2358G>C (p.Ala786=)
c.2376G>C (p.Ala792=)
c.807G>C (p.Ala269=)
c.1218G>C (p.Ala406=)
c.2319G>C (p.Ala773=)
c.2406G>C (p.Ala802=)
c.2337G>C (p.Ala779=)
c.1869G>C (p.Ala623=)
Xg.41531085C>TCA251017CASKc.2391G>A (p.Ala797=)
c.2388G>A (p.Ala796=)
c.2442G>A (p.Ala814=)
c.2340G>A (p.Ala780=)
c.2445G>A (p.Ala815=)
c.1062G>A (p.Ala354=)
c.2373G>A (p.Ala791=)
c.2304G>A (p.Ala768=)
n.1221G>A
c.214G>A
c.2424G>A (p.Ala808=)
c.2355G>A (p.Ala785=)
c.2427G>A (p.Ala809=)
n.2673G>A
c.2409G>A (p.Ala803=)
c.1764G>A (p.Ala588=)
c.2358G>A (p.Ala786=)
c.2376G>A (p.Ala792=)
c.807G>A (p.Ala269=)
c.1218G>A (p.Ala406=)
c.2319G>A (p.Ala773=)
c.2406G>A (p.Ala802=)
c.2337G>A (p.Ala779=)
c.1869G>A (p.Ala623=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531086G>ACA412990189CASKc.2390C>T (p.Ala797Val)
c.2387C>T (p.Ala796Val)
c.2441C>T (p.Ala814Val)
c.2339C>T (p.Ala780Val)
c.2444C>T (p.Ala815Val)
c.1061C>T (p.Ala354Val)
c.2372C>T (p.Ala791Val)
c.2303C>T (p.Ala768Val)
n.1220C>T
c.213C>T
c.2423C>T (p.Ala808Val)
c.2354C>T (p.Ala785Val)
c.2426C>T (p.Ala809Val)
n.2672C>T
c.2408C>T (p.Ala803Val)
c.1763C>T (p.Ala588Val)
c.2357C>T (p.Ala786Val)
c.2375C>T (p.Ala792Val)
c.806C>T (p.Ala269Val)
c.1217C>T (p.Ala406Val)
c.2318C>T (p.Ala773Val)
c.2405C>T (p.Ala802Val)
c.2336C>T (p.Ala779Val)
c.1868C>T (p.Ala623Val)
 dbSNP gnomAD v4
Xg.41531086G>CCA412990191CASKc.2390C>G (p.Ala797Gly)
c.2387C>G (p.Ala796Gly)
c.2441C>G (p.Ala814Gly)
c.2339C>G (p.Ala780Gly)
c.2444C>G (p.Ala815Gly)
c.1061C>G (p.Ala354Gly)
c.2372C>G (p.Ala791Gly)
c.2303C>G (p.Ala768Gly)
n.1220C>G
c.213C>G
c.2423C>G (p.Ala808Gly)
c.2354C>G (p.Ala785Gly)
c.2426C>G (p.Ala809Gly)
n.2672C>G
c.2408C>G (p.Ala803Gly)
c.1763C>G (p.Ala588Gly)
c.2357C>G (p.Ala786Gly)
c.2375C>G (p.Ala792Gly)
c.806C>G (p.Ala269Gly)
c.1217C>G (p.Ala406Gly)
c.2318C>G (p.Ala773Gly)
c.2405C>G (p.Ala802Gly)
c.2336C>G (p.Ala779Gly)
c.1868C>G (p.Ala623Gly)
Xg.41531086G=CA2425947691CASKc.2390C= (p.Ala797=)
c.2387C= (p.Ala796=)
c.2441C= (p.Ala814=)
c.2339C= (p.Ala780=)
c.2444C= (p.Ala815=)
c.1061C= (p.Ala354=)
c.2372C= (p.Ala791=)
c.2303C= (p.Ala768=)
n.1220C=
c.213C=
c.2423C= (p.Ala808=)
c.2354C= (p.Ala785=)
c.2426C= (p.Ala809=)
n.2672C=
c.2408C= (p.Ala803=)
c.1763C= (p.Ala588=)
c.2357C= (p.Ala786=)
c.2375C= (p.Ala792=)
c.806C= (p.Ala269=)
c.1217C= (p.Ala406=)
c.2318C= (p.Ala773=)
c.2405C= (p.Ala802=)
c.2336C= (p.Ala779=)
c.1868C= (p.Ala623=)
Xg.41531086G>TCA412990193CASKc.2390C>A (p.Ala797Glu)
c.2387C>A (p.Ala796Glu)
c.2441C>A (p.Ala814Glu)
c.2339C>A (p.Ala780Glu)
c.2444C>A (p.Ala815Glu)
c.1061C>A (p.Ala354Glu)
c.2372C>A (p.Ala791Glu)
c.2303C>A (p.Ala768Glu)
n.1220C>A
c.213C>A
c.2423C>A (p.Ala808Glu)
c.2354C>A (p.Ala785Glu)
c.2426C>A (p.Ala809Glu)
n.2672C>A
c.2408C>A (p.Ala803Glu)
c.1763C>A (p.Ala588Glu)
c.2357C>A (p.Ala786Glu)
c.2375C>A (p.Ala792Glu)
c.806C>A (p.Ala269Glu)
c.1217C>A (p.Ala406Glu)
c.2318C>A (p.Ala773Glu)
c.2405C>A (p.Ala802Glu)
c.2336C>A (p.Ala779Glu)
c.1868C>A (p.Ala623Glu)
Xg.41531087delCA2695200178CASKc.2389del (p.Ala797ArgfsTer18)
c.2386del (p.Ala796ArgfsTer18)
c.2440del (p.Ala814ArgfsTer18)
c.2338del (p.Ala780ArgfsTer18)
c.2443del (p.Ala815ArgfsTer18)
c.1060del (p.Ala354ArgfsTer18)
c.2371del (p.Ala791ArgfsTer18)
c.2302del (p.Ala768ArgfsTer18)
n.1219del
c.212del
c.2422del (p.Ala808ArgfsTer18)
c.2353del (p.Ala785ArgfsTer18)
c.2425del (p.Ala809ArgfsTer18)
n.2671del
c.2407del (p.Ala803ArgfsTer18)
c.1762del (p.Ala588ArgfsTer18)
c.2356del (p.Ala786ArgfsTer18)
c.2374del (p.Ala792ArgfsTer18)
c.805del (p.Ala269ArgfsTer18)
c.1216del (p.Ala406ArgfsTer18)
c.2317del (p.Ala773ArgfsTer18)
c.2404del (p.Ala802ArgfsTer18)
c.2335del (p.Ala779ArgfsTer18)
c.1867del (p.Ala623ArgfsTer18)
 ClinVar
Xg.41531087C>ACA412990194CASKc.2389G>T (p.Ala797Ser)
c.2386G>T (p.Ala796Ser)
c.2440G>T (p.Ala814Ser)
c.2338G>T (p.Ala780Ser)
c.2443G>T (p.Ala815Ser)
c.1060G>T (p.Ala354Ser)
c.2371G>T (p.Ala791Ser)
c.2302G>T (p.Ala768Ser)
n.1219G>T
c.212G>T
c.2422G>T (p.Ala808Ser)
c.2353G>T (p.Ala785Ser)
c.2425G>T (p.Ala809Ser)
n.2671G>T
c.2407G>T (p.Ala803Ser)
c.1762G>T (p.Ala588Ser)
c.2356G>T (p.Ala786Ser)
c.2374G>T (p.Ala792Ser)
c.805G>T (p.Ala269Ser)
c.1216G>T (p.Ala406Ser)
c.2317G>T (p.Ala773Ser)
c.2404G>T (p.Ala802Ser)
c.2335G>T (p.Ala779Ser)
c.1867G>T (p.Ala623Ser)
Xg.41531087C>GCA412990196CASKc.2389G>C (p.Ala797Pro)
c.2386G>C (p.Ala796Pro)
c.2440G>C (p.Ala814Pro)
c.2338G>C (p.Ala780Pro)
c.2443G>C (p.Ala815Pro)
c.1060G>C (p.Ala354Pro)
c.2371G>C (p.Ala791Pro)
c.2302G>C (p.Ala768Pro)
n.1219G>C
c.212G>C
c.2422G>C (p.Ala808Pro)
c.2353G>C (p.Ala785Pro)
c.2425G>C (p.Ala809Pro)
n.2671G>C
c.2407G>C (p.Ala803Pro)
c.1762G>C (p.Ala588Pro)
c.2356G>C (p.Ala786Pro)
c.2374G>C (p.Ala792Pro)
c.805G>C (p.Ala269Pro)
c.1216G>C (p.Ala406Pro)
c.2317G>C (p.Ala773Pro)
c.2404G>C (p.Ala802Pro)
c.2335G>C (p.Ala779Pro)
c.1867G>C (p.Ala623Pro)
Xg.41531087C>TCA412990198CASKc.2389G>A (p.Ala797Thr)
c.2386G>A (p.Ala796Thr)
c.2440G>A (p.Ala814Thr)
c.2338G>A (p.Ala780Thr)
c.2443G>A (p.Ala815Thr)
c.1060G>A (p.Ala354Thr)
c.2371G>A (p.Ala791Thr)
c.2302G>A (p.Ala768Thr)
n.1219G>A
c.212G>A
c.2422G>A (p.Ala808Thr)
c.2353G>A (p.Ala785Thr)
c.2425G>A (p.Ala809Thr)
n.2671G>A
c.2407G>A (p.Ala803Thr)
c.1762G>A (p.Ala588Thr)
c.2356G>A (p.Ala786Thr)
c.2374G>A (p.Ala792Thr)
c.805G>A (p.Ala269Thr)
c.1216G>A (p.Ala406Thr)
c.2317G>A (p.Ala773Thr)
c.2404G>A (p.Ala802Thr)
c.2335G>A (p.Ala779Thr)
c.1867G>A (p.Ala623Thr)
 gnomAD v4
Xg.41531088A>CCA412990201CASKc.2388T>G (p.Asp796Glu)
c.2385T>G (p.Asp795Glu)
c.2439T>G (p.Asp813Glu)
c.2337T>G (p.Asp779Glu)
c.2442T>G (p.Asp814Glu)
c.1059T>G (p.Asp353Glu)
c.2370T>G (p.Asp790Glu)
c.2301T>G (p.Asp767Glu)
n.1218T>G
c.211T>G
c.2421T>G (p.Asp807Glu)
c.2352T>G (p.Asp784Glu)
c.2424T>G (p.Asp808Glu)
n.2670T>G
c.2406T>G (p.Asp802Glu)
c.1761T>G (p.Asp587Glu)
c.2355T>G (p.Asp785Glu)
c.2373T>G (p.Asp791Glu)
c.804T>G (p.Asp268Glu)
c.1215T>G (p.Asp405Glu)
c.2316T>G (p.Asp772Glu)
c.2403T>G (p.Asp801Glu)
c.2334T>G (p.Asp778Glu)
c.1866T>G (p.Asp622Glu)
Xg.41531088A>GCA516099178CASKc.2388T>C (p.Asp796=)
c.2385T>C (p.Asp795=)
c.2439T>C (p.Asp813=)
c.2337T>C (p.Asp779=)
c.2442T>C (p.Asp814=)
c.1059T>C (p.Asp353=)
c.2370T>C (p.Asp790=)
c.2301T>C (p.Asp767=)
n.1218T>C
c.211T>C
c.2421T>C (p.Asp807=)
c.2352T>C (p.Asp784=)
c.2424T>C (p.Asp808=)
n.2670T>C
c.2406T>C (p.Asp802=)
c.1761T>C (p.Asp587=)
c.2355T>C (p.Asp785=)
c.2373T>C (p.Asp791=)
c.804T>C (p.Asp268=)
c.1215T>C (p.Asp405=)
c.2316T>C (p.Asp772=)
c.2403T>C (p.Asp801=)
c.2334T>C (p.Asp778=)
c.1866T>C (p.Asp622=)
Xg.41531088A>TCA412990199CASKc.2388T>A (p.Asp796Glu)
c.2385T>A (p.Asp795Glu)
c.2439T>A (p.Asp813Glu)
c.2337T>A (p.Asp779Glu)
c.2442T>A (p.Asp814Glu)
c.1059T>A (p.Asp353Glu)
c.2370T>A (p.Asp790Glu)
c.2301T>A (p.Asp767Glu)
n.1218T>A
c.211T>A
c.2421T>A (p.Asp807Glu)
c.2352T>A (p.Asp784Glu)
c.2424T>A (p.Asp808Glu)
n.2670T>A
c.2406T>A (p.Asp802Glu)
c.1761T>A (p.Asp587Glu)
c.2355T>A (p.Asp785Glu)
c.2373T>A (p.Asp791Glu)
c.804T>A (p.Asp268Glu)
c.1215T>A (p.Asp405Glu)
c.2316T>A (p.Asp772Glu)
c.2403T>A (p.Asp801Glu)
c.2334T>A (p.Asp778Glu)
c.1866T>A (p.Asp622Glu)
Xg.41531089T>ACA412990203CASKc.2387A>T (p.Asp796Val)
c.2384A>T (p.Asp795Val)
c.2438A>T (p.Asp813Val)
c.2336A>T (p.Asp779Val)
c.2441A>T (p.Asp814Val)
c.1058A>T (p.Asp353Val)
c.2369A>T (p.Asp790Val)
c.2300A>T (p.Asp767Val)
n.1217A>T
c.210A>T
c.2420A>T (p.Asp807Val)
c.2351A>T (p.Asp784Val)
c.2423A>T (p.Asp808Val)
n.2669A>T
c.2405A>T (p.Asp802Val)
c.1760A>T (p.Asp587Val)
c.2354A>T (p.Asp785Val)
c.2372A>T (p.Asp791Val)
c.803A>T (p.Asp268Val)
c.1214A>T (p.Asp405Val)
c.2315A>T (p.Asp772Val)
c.2402A>T (p.Asp801Val)
c.2333A>T (p.Asp778Val)
c.1865A>T (p.Asp622Val)
Xg.41531089T>CCA412990205CASKc.2387A>G (p.Asp796Gly)
c.2384A>G (p.Asp795Gly)
c.2438A>G (p.Asp813Gly)
c.2336A>G (p.Asp779Gly)
c.2441A>G (p.Asp814Gly)
c.1058A>G (p.Asp353Gly)
c.2369A>G (p.Asp790Gly)
c.2300A>G (p.Asp767Gly)
n.1217A>G
c.210A>G
c.2420A>G (p.Asp807Gly)
c.2351A>G (p.Asp784Gly)
c.2423A>G (p.Asp808Gly)
n.2669A>G
c.2405A>G (p.Asp802Gly)
c.1760A>G (p.Asp587Gly)
c.2354A>G (p.Asp785Gly)
c.2372A>G (p.Asp791Gly)
c.803A>G (p.Asp268Gly)
c.1214A>G (p.Asp405Gly)
c.2315A>G (p.Asp772Gly)
c.2402A>G (p.Asp801Gly)
c.2333A>G (p.Asp778Gly)
c.1865A>G (p.Asp622Gly)
Xg.41531089T>GCA412990206CASKc.2387A>C (p.Asp796Ala)
c.2384A>C (p.Asp795Ala)
c.2438A>C (p.Asp813Ala)
c.2336A>C (p.Asp779Ala)
c.2441A>C (p.Asp814Ala)
c.1058A>C (p.Asp353Ala)
c.2369A>C (p.Asp790Ala)
c.2300A>C (p.Asp767Ala)
n.1217A>C
c.210A>C
c.2420A>C (p.Asp807Ala)
c.2351A>C (p.Asp784Ala)
c.2423A>C (p.Asp808Ala)
n.2669A>C
c.2405A>C (p.Asp802Ala)
c.1760A>C (p.Asp587Ala)
c.2354A>C (p.Asp785Ala)
c.2372A>C (p.Asp791Ala)
c.803A>C (p.Asp268Ala)
c.1214A>C (p.Asp405Ala)
c.2315A>C (p.Asp772Ala)
c.2402A>C (p.Asp801Ala)
c.2333A>C (p.Asp778Ala)
c.1865A>C (p.Asp622Ala)
Xg.41531090C>ACA412990208CASKc.2386G>T (p.Asp796Tyr)
c.2383G>T (p.Asp795Tyr)
c.2437G>T (p.Asp813Tyr)
c.2335G>T (p.Asp779Tyr)
c.2440G>T (p.Asp814Tyr)
c.1057G>T (p.Asp353Tyr)
c.2368G>T (p.Asp790Tyr)
c.2299G>T (p.Asp767Tyr)
n.1216G>T
c.209G>T
c.2419G>T (p.Asp807Tyr)
c.2350G>T (p.Asp784Tyr)
c.2422G>T (p.Asp808Tyr)
n.2668G>T
c.2404G>T (p.Asp802Tyr)
c.1759G>T (p.Asp587Tyr)
c.2353G>T (p.Asp785Tyr)
c.2371G>T (p.Asp791Tyr)
c.802G>T (p.Asp268Tyr)
c.1213G>T (p.Asp405Tyr)
c.2314G>T (p.Asp772Tyr)
c.2401G>T (p.Asp801Tyr)
c.2332G>T (p.Asp778Tyr)
c.1864G>T (p.Asp622Tyr)
Xg.41531090C>GCA412990209CASKc.2386G>C (p.Asp796His)
c.2383G>C (p.Asp795His)
c.2437G>C (p.Asp813His)
c.2335G>C (p.Asp779His)
c.2440G>C (p.Asp814His)
c.1057G>C (p.Asp353His)
c.2368G>C (p.Asp790His)
c.2299G>C (p.Asp767His)
n.1216G>C
c.209G>C
c.2419G>C (p.Asp807His)
c.2350G>C (p.Asp784His)
c.2422G>C (p.Asp808His)
n.2668G>C
c.2404G>C (p.Asp802His)
c.1759G>C (p.Asp587His)
c.2353G>C (p.Asp785His)
c.2371G>C (p.Asp791His)
c.802G>C (p.Asp268His)
c.1213G>C (p.Asp405His)
c.2314G>C (p.Asp772His)
c.2401G>C (p.Asp801His)
c.2332G>C (p.Asp778His)
c.1864G>C (p.Asp622His)
Xg.41531090C>TCA412990211CASKc.2386G>A (p.Asp796Asn)
c.2383G>A (p.Asp795Asn)
c.2437G>A (p.Asp813Asn)
c.2335G>A (p.Asp779Asn)
c.2440G>A (p.Asp814Asn)
c.1057G>A (p.Asp353Asn)
c.2368G>A (p.Asp790Asn)
c.2299G>A (p.Asp767Asn)
n.1216G>A
c.209G>A
c.2419G>A (p.Asp807Asn)
c.2350G>A (p.Asp784Asn)
c.2422G>A (p.Asp808Asn)
n.2668G>A
c.2404G>A (p.Asp802Asn)
c.1759G>A (p.Asp587Asn)
c.2353G>A (p.Asp785Asn)
c.2371G>A (p.Asp791Asn)
c.802G>A (p.Asp268Asn)
c.1213G>A (p.Asp405Asn)
c.2314G>A (p.Asp772Asn)
c.2401G>A (p.Asp801Asn)
c.2332G>A (p.Asp778Asn)
c.1864G>A (p.Asp622Asn)
 COSMIC
Xg.41531091C>ACA412990212CASKc.2385G>T (p.Glu795Asp)
c.2382G>T (p.Glu794Asp)
c.2436G>T (p.Glu812Asp)
c.2334G>T (p.Glu778Asp)
c.2439G>T (p.Glu813Asp)
c.1056G>T (p.Glu352Asp)
c.2367G>T (p.Glu789Asp)
c.2298G>T (p.Glu766Asp)
n.1215G>T
c.208G>T
c.2418G>T (p.Glu806Asp)
c.2349G>T (p.Glu783Asp)
c.2421G>T (p.Glu807Asp)
n.2667G>T
c.2403G>T (p.Glu801Asp)
c.1758G>T (p.Glu586Asp)
c.2352G>T (p.Glu784Asp)
c.2370G>T (p.Glu790Asp)
c.801G>T (p.Glu267Asp)
c.1212G>T (p.Glu404Asp)
c.2313G>T (p.Glu771Asp)
c.2400G>T (p.Glu800Asp)
c.2331G>T (p.Glu777Asp)
c.1863G>T (p.Glu621Asp)
Xg.41531091C>GCA412990214CASKc.2385G>C (p.Glu795Asp)
c.2382G>C (p.Glu794Asp)
c.2436G>C (p.Glu812Asp)
c.2334G>C (p.Glu778Asp)
c.2439G>C (p.Glu813Asp)
c.1056G>C (p.Glu352Asp)
c.2367G>C (p.Glu789Asp)
c.2298G>C (p.Glu766Asp)
n.1215G>C
c.208G>C
c.2418G>C (p.Glu806Asp)
c.2349G>C (p.Glu783Asp)
c.2421G>C (p.Glu807Asp)
n.2667G>C
c.2403G>C (p.Glu801Asp)
c.1758G>C (p.Glu586Asp)
c.2352G>C (p.Glu784Asp)
c.2370G>C (p.Glu790Asp)
c.801G>C (p.Glu267Asp)
c.1212G>C (p.Glu404Asp)
c.2313G>C (p.Glu771Asp)
c.2400G>C (p.Glu800Asp)
c.2331G>C (p.Glu777Asp)
c.1863G>C (p.Glu621Asp)
Xg.41531091C>TCA516099195CASKc.2385G>A (p.Glu795=)
c.2382G>A (p.Glu794=)
c.2436G>A (p.Glu812=)
c.2334G>A (p.Glu778=)
c.2439G>A (p.Glu813=)
c.1056G>A (p.Glu352=)
c.2367G>A (p.Glu789=)
c.2298G>A (p.Glu766=)
n.1215G>A
c.208G>A
c.2418G>A (p.Glu806=)
c.2349G>A (p.Glu783=)
c.2421G>A (p.Glu807=)
n.2667G>A
c.2403G>A (p.Glu801=)
c.1758G>A (p.Glu586=)
c.2352G>A (p.Glu784=)
c.2370G>A (p.Glu790=)
c.801G>A (p.Glu267=)
c.1212G>A (p.Glu404=)
c.2313G>A (p.Glu771=)
c.2400G>A (p.Glu800=)
c.2331G>A (p.Glu777=)
c.1863G>A (p.Glu621=)
Xg.41531092T>ACA412990216CASKc.2384A>T (p.Glu795Val)
c.2381A>T (p.Glu794Val)
c.2435A>T (p.Glu812Val)
c.2333A>T (p.Glu778Val)
c.2438A>T (p.Glu813Val)
c.1055A>T (p.Glu352Val)
c.2366A>T (p.Glu789Val)
c.2297A>T (p.Glu766Val)
n.1214A>T
c.207A>T
c.2417A>T (p.Glu806Val)
c.2348A>T (p.Glu783Val)
c.2420A>T (p.Glu807Val)
n.2666A>T
c.2402A>T (p.Glu801Val)
c.1757A>T (p.Glu586Val)
c.2351A>T (p.Glu784Val)
c.2369A>T (p.Glu790Val)
c.800A>T (p.Glu267Val)
c.1211A>T (p.Glu404Val)
c.2312A>T (p.Glu771Val)
c.2399A>T (p.Glu800Val)
c.2330A>T (p.Glu777Val)
c.1862A>T (p.Glu621Val)
Xg.41531092T>CCA412990218CASKc.2384A>G (p.Glu795Gly)
c.2381A>G (p.Glu794Gly)
c.2435A>G (p.Glu812Gly)
c.2333A>G (p.Glu778Gly)
c.2438A>G (p.Glu813Gly)
c.1055A>G (p.Glu352Gly)
c.2366A>G (p.Glu789Gly)
c.2297A>G (p.Glu766Gly)
n.1214A>G
c.207A>G
c.2417A>G (p.Glu806Gly)
c.2348A>G (p.Glu783Gly)
c.2420A>G (p.Glu807Gly)
n.2666A>G
c.2402A>G (p.Glu801Gly)
c.1757A>G (p.Glu586Gly)
c.2351A>G (p.Glu784Gly)
c.2369A>G (p.Glu790Gly)
c.800A>G (p.Glu267Gly)
c.1211A>G (p.Glu404Gly)
c.2312A>G (p.Glu771Gly)
c.2399A>G (p.Glu800Gly)
c.2330A>G (p.Glu777Gly)
c.1862A>G (p.Glu621Gly)
Xg.41531092T>GCA412990219CASKc.2384A>C (p.Glu795Ala)
c.2381A>C (p.Glu794Ala)
c.2435A>C (p.Glu812Ala)
c.2333A>C (p.Glu778Ala)
c.2438A>C (p.Glu813Ala)
c.1055A>C (p.Glu352Ala)
c.2366A>C (p.Glu789Ala)
c.2297A>C (p.Glu766Ala)
n.1214A>C
c.207A>C
c.2417A>C (p.Glu806Ala)
c.2348A>C (p.Glu783Ala)
c.2420A>C (p.Glu807Ala)
n.2666A>C
c.2402A>C (p.Glu801Ala)
c.1757A>C (p.Glu586Ala)
c.2351A>C (p.Glu784Ala)
c.2369A>C (p.Glu790Ala)
c.800A>C (p.Glu267Ala)
c.1211A>C (p.Glu404Ala)
c.2312A>C (p.Glu771Ala)
c.2399A>C (p.Glu800Ala)
c.2330A>C (p.Glu777Ala)
c.1862A>C (p.Glu621Ala)
Xg.41531093C>ACA412990221CASKc.2383G>T (p.Glu795Ter)
c.2380G>T (p.Glu794Ter)
c.2434G>T (p.Glu812Ter)
c.2332G>T (p.Glu778Ter)
c.2437G>T (p.Glu813Ter)
c.1054G>T (p.Glu352Ter)
c.2365G>T (p.Glu789Ter)
c.2296G>T (p.Glu766Ter)
n.1213G>T
c.206G>T
c.2416G>T (p.Glu806Ter)
c.2347G>T (p.Glu783Ter)
c.2419G>T (p.Glu807Ter)
n.2665G>T
c.2401G>T (p.Glu801Ter)
c.1756G>T (p.Glu586Ter)
c.2350G>T (p.Glu784Ter)
c.2368G>T (p.Glu790Ter)
c.799G>T (p.Glu267Ter)
c.1210G>T (p.Glu404Ter)
c.2311G>T (p.Glu771Ter)
c.2398G>T (p.Glu800Ter)
c.2329G>T (p.Glu777Ter)
c.1861G>T (p.Glu621Ter)
Xg.41531093C=CA2425947692CASKc.2383G= (p.Glu795=)
c.2380G= (p.Glu794=)
c.2434G= (p.Glu812=)
c.2332G= (p.Glu778=)
c.2437G= (p.Glu813=)
c.1054G= (p.Glu352=)
c.2365G= (p.Glu789=)
c.2296G= (p.Glu766=)
n.1213G=
c.206G=
c.2416G= (p.Glu806=)
c.2347G= (p.Glu783=)
c.2419G= (p.Glu807=)
n.2665G=
c.2401G= (p.Glu801=)
c.1756G= (p.Glu586=)
c.2350G= (p.Glu784=)
c.2368G= (p.Glu790=)
c.799G= (p.Glu267=)
c.1210G= (p.Glu404=)
c.2311G= (p.Glu771=)
c.2398G= (p.Glu800=)
c.2329G= (p.Glu777=)
c.1861G= (p.Glu621=)
Xg.41531093C>GCA412990222CASKc.2383G>C (p.Glu795Gln)
c.2380G>C (p.Glu794Gln)
c.2434G>C (p.Glu812Gln)
c.2332G>C (p.Glu778Gln)
c.2437G>C (p.Glu813Gln)
c.1054G>C (p.Glu352Gln)
c.2365G>C (p.Glu789Gln)
c.2296G>C (p.Glu766Gln)
n.1213G>C
c.206G>C
c.2416G>C (p.Glu806Gln)
c.2347G>C (p.Glu783Gln)
c.2419G>C (p.Glu807Gln)
n.2665G>C
c.2401G>C (p.Glu801Gln)
c.1756G>C (p.Glu586Gln)
c.2350G>C (p.Glu784Gln)
c.2368G>C (p.Glu790Gln)
c.799G>C (p.Glu267Gln)
c.1210G>C (p.Glu404Gln)
c.2311G>C (p.Glu771Gln)
c.2398G>C (p.Glu800Gln)
c.2329G>C (p.Glu777Gln)
c.1861G>C (p.Glu621Gln)
 ClinVar dbSNP
Xg.41531093C>TCA412990223CASKc.2383G>A (p.Glu795Lys)
c.2380G>A (p.Glu794Lys)
c.2434G>A (p.Glu812Lys)
c.2332G>A (p.Glu778Lys)
c.2437G>A (p.Glu813Lys)
c.1054G>A (p.Glu352Lys)
c.2365G>A (p.Glu789Lys)
c.2296G>A (p.Glu766Lys)
n.1213G>A
c.206G>A
c.2416G>A (p.Glu806Lys)
c.2347G>A (p.Glu783Lys)
c.2419G>A (p.Glu807Lys)
n.2665G>A
c.2401G>A (p.Glu801Lys)
c.1756G>A (p.Glu586Lys)
c.2350G>A (p.Glu784Lys)
c.2368G>A (p.Glu790Lys)
c.799G>A (p.Glu267Lys)
c.1210G>A (p.Glu404Lys)
c.2311G>A (p.Glu771Lys)
c.2398G>A (p.Glu800Lys)
c.2329G>A (p.Glu777Lys)
c.1861G>A (p.Glu621Lys)
 ClinVar dbSNP gnomAD v4
Xg.41531094G>ACA10390022CASKc.2382C>T (p.His794=)
c.2379C>T (p.His793=)
c.2433C>T (p.His811=)
c.2331C>T (p.His777=)
c.2436C>T (p.His812=)
c.1053C>T (p.His351=)
c.2364C>T (p.His788=)
c.2295C>T (p.His765=)
n.1212C>T
c.205C>T
c.2415C>T (p.His805=)
c.2346C>T (p.His782=)
c.2418C>T (p.His806=)
n.2664C>T
c.2400C>T (p.His800=)
c.1755C>T (p.His585=)
c.2349C>T (p.His783=)
c.2367C>T (p.His789=)
c.798C>T (p.His266=)
c.1209C>T (p.His403=)
c.2310C>T (p.His770=)
c.2397C>T (p.His799=)
c.2328C>T (p.His776=)
c.1860C>T (p.His620=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41531094G>CCA412990226CASKc.2382C>G (p.His794Gln)
c.2379C>G (p.His793Gln)
c.2433C>G (p.His811Gln)
c.2331C>G (p.His777Gln)
c.2436C>G (p.His812Gln)
c.1053C>G (p.His351Gln)
c.2364C>G (p.His788Gln)
c.2295C>G (p.His765Gln)
n.1212C>G
c.205C>G
c.2415C>G (p.His805Gln)
c.2346C>G (p.His782Gln)
c.2418C>G (p.His806Gln)
n.2664C>G
c.2400C>G (p.His800Gln)
c.1755C>G (p.His585Gln)
c.2349C>G (p.His783Gln)
c.2367C>G (p.His789Gln)
c.798C>G (p.His266Gln)
c.1209C>G (p.His403Gln)
c.2310C>G (p.His770Gln)
c.2397C>G (p.His799Gln)
c.2328C>G (p.His776Gln)
c.1860C>G (p.His620Gln)
Xg.41531094G=CA2425947693CASKc.2382C= (p.His794=)
c.2379C= (p.His793=)
c.2433C= (p.His811=)
c.2331C= (p.His777=)
c.2436C= (p.His812=)
c.1053C= (p.His351=)
c.2364C= (p.His788=)
c.2295C= (p.His765=)
n.1212C=
c.205C=
c.2415C= (p.His805=)
c.2346C= (p.His782=)
c.2418C= (p.His806=)
n.2664C=
c.2400C= (p.His800=)
c.1755C= (p.His585=)
c.2349C= (p.His783=)
c.2367C= (p.His789=)
c.798C= (p.His266=)
c.1209C= (p.His403=)
c.2310C= (p.His770=)
c.2397C= (p.His799=)
c.2328C= (p.His776=)
c.1860C= (p.His620=)
Xg.41531094G>TCA412990225CASKc.2382C>A (p.His794Gln)
c.2379C>A (p.His793Gln)
c.2433C>A (p.His811Gln)
c.2331C>A (p.His777Gln)
c.2436C>A (p.His812Gln)
c.1053C>A (p.His351Gln)
c.2364C>A (p.His788Gln)
c.2295C>A (p.His765Gln)
n.1212C>A
c.205C>A
c.2415C>A (p.His805Gln)
c.2346C>A (p.His782Gln)
c.2418C>A (p.His806Gln)
n.2664C>A
c.2400C>A (p.His800Gln)
c.1755C>A (p.His585Gln)
c.2349C>A (p.His783Gln)
c.2367C>A (p.His789Gln)
c.798C>A (p.His266Gln)
c.1209C>A (p.His403Gln)
c.2310C>A (p.His770Gln)
c.2397C>A (p.His799Gln)
c.2328C>A (p.His776Gln)
c.1860C>A (p.His620Gln)
Xg.41531095T>ACA412990231CASKc.2381A>T (p.His794Leu)
c.2378A>T (p.His793Leu)
c.2432A>T (p.His811Leu)
c.2330A>T (p.His777Leu)
c.2435A>T (p.His812Leu)
c.1052A>T (p.His351Leu)
c.2363A>T (p.His788Leu)
c.2294A>T (p.His765Leu)
n.1211A>T
c.204A>T
c.2414A>T (p.His805Leu)
c.2345A>T (p.His782Leu)
c.2417A>T (p.His806Leu)
n.2663A>T
c.2399A>T (p.His800Leu)
c.1754A>T (p.His585Leu)
c.2348A>T (p.His783Leu)
c.2366A>T (p.His789Leu)
c.797A>T (p.His266Leu)
c.1208A>T (p.His403Leu)
c.2309A>T (p.His770Leu)
c.2396A>T (p.His799Leu)
c.2327A>T (p.His776Leu)
c.1859A>T (p.His620Leu)
Xg.41531095T>CCA412990229CASKc.2381A>G (p.His794Arg)
c.2378A>G (p.His793Arg)
c.2432A>G (p.His811Arg)
c.2330A>G (p.His777Arg)
c.2435A>G (p.His812Arg)
c.1052A>G (p.His351Arg)
c.2363A>G (p.His788Arg)
c.2294A>G (p.His765Arg)
n.1211A>G
c.204A>G
c.2414A>G (p.His805Arg)
c.2345A>G (p.His782Arg)
c.2417A>G (p.His806Arg)
n.2663A>G
c.2399A>G (p.His800Arg)
c.1754A>G (p.His585Arg)
c.2348A>G (p.His783Arg)
c.2366A>G (p.His789Arg)
c.797A>G (p.His266Arg)
c.1208A>G (p.His403Arg)
c.2309A>G (p.His770Arg)
c.2396A>G (p.His799Arg)
c.2327A>G (p.His776Arg)
c.1859A>G (p.His620Arg)
Xg.41531095T>GCA412990232CASKc.2381A>C (p.His794Pro)
c.2378A>C (p.His793Pro)
c.2432A>C (p.His811Pro)
c.2330A>C (p.His777Pro)
c.2435A>C (p.His812Pro)
c.1052A>C (p.His351Pro)
c.2363A>C (p.His788Pro)
c.2294A>C (p.His765Pro)
n.1211A>C
c.204A>C
c.2414A>C (p.His805Pro)
c.2345A>C (p.His782Pro)
c.2417A>C (p.His806Pro)
n.2663A>C
c.2399A>C (p.His800Pro)
c.1754A>C (p.His585Pro)
c.2348A>C (p.His783Pro)
c.2366A>C (p.His789Pro)
c.797A>C (p.His266Pro)
c.1208A>C (p.His403Pro)
c.2309A>C (p.His770Pro)
c.2396A>C (p.His799Pro)
c.2327A>C (p.His776Pro)
c.1859A>C (p.His620Pro)
Xg.41531096G>ACA412990233CASKc.2380C>T (p.His794Tyr)
c.2377C>T (p.His793Tyr)
c.2431C>T (p.His811Tyr)
c.2329C>T (p.His777Tyr)
c.2434C>T (p.His812Tyr)
c.1051C>T (p.His351Tyr)
c.2362C>T (p.His788Tyr)
c.2293C>T (p.His765Tyr)
n.1210C>T
c.203C>T
c.2413C>T (p.His805Tyr)
c.2344C>T (p.His782Tyr)
c.2416C>T (p.His806Tyr)
n.2662C>T
c.2398C>T (p.His800Tyr)
c.1753C>T (p.His585Tyr)
c.2347C>T (p.His783Tyr)
c.2365C>T (p.His789Tyr)
c.796C>T (p.His266Tyr)
c.1207C>T (p.His403Tyr)
c.2308C>T (p.His770Tyr)
c.2395C>T (p.His799Tyr)
c.2326C>T (p.His776Tyr)
c.1858C>T (p.His620Tyr)
 COSMIC COSMIC
Xg.41531096G>CCA412990235CASKc.2380C>G (p.His794Asp)
c.2377C>G (p.His793Asp)
c.2431C>G (p.His811Asp)
c.2329C>G (p.His777Asp)
c.2434C>G (p.His812Asp)
c.1051C>G (p.His351Asp)
c.2362C>G (p.His788Asp)
c.2293C>G (p.His765Asp)
n.1210C>G
c.203C>G
c.2413C>G (p.His805Asp)
c.2344C>G (p.His782Asp)
c.2416C>G (p.His806Asp)
n.2662C>G
c.2398C>G (p.His800Asp)
c.1753C>G (p.His585Asp)
c.2347C>G (p.His783Asp)
c.2365C>G (p.His789Asp)
c.796C>G (p.His266Asp)
c.1207C>G (p.His403Asp)
c.2308C>G (p.His770Asp)
c.2395C>G (p.His799Asp)
c.2326C>G (p.His776Asp)
c.1858C>G (p.His620Asp)
Xg.41531096G>TCA412990237CASKc.2380C>A (p.His794Asn)
c.2377C>A (p.His793Asn)
c.2431C>A (p.His811Asn)
c.2329C>A (p.His777Asn)
c.2434C>A (p.His812Asn)
c.1051C>A (p.His351Asn)
c.2362C>A (p.His788Asn)
c.2293C>A (p.His765Asn)
n.1210C>A
c.203C>A
c.2413C>A (p.His805Asn)
c.2344C>A (p.His782Asn)
c.2416C>A (p.His806Asn)
n.2662C>A
c.2398C>A (p.His800Asn)
c.1753C>A (p.His585Asn)
c.2347C>A (p.His783Asn)
c.2365C>A (p.His789Asn)
c.796C>A (p.His266Asn)
c.1207C>A (p.His403Asn)
c.2308C>A (p.His770Asn)
c.2395C>A (p.His799Asn)
c.2326C>A (p.His776Asn)
c.1858C>A (p.His620Asn)
Xg.41531097G>ACA516099221CASKc.2379C>T (p.Ser793=)
c.2376C>T (p.Ser792=)
c.2430C>T (p.Ser810=)
c.2328C>T (p.Ser776=)
c.2433C>T (p.Ser811=)
c.1050C>T (p.Ser350=)
c.2361C>T (p.Ser787=)
c.2292C>T (p.Ser764=)
n.1209C>T
c.202C>T
c.2412C>T (p.Ser804=)
c.2343C>T (p.Ser781=)
c.2415C>T (p.Ser805=)
n.2661C>T
c.2397C>T (p.Ser799=)
c.1752C>T (p.Ser584=)
c.2346C>T (p.Ser782=)
c.2364C>T (p.Ser788=)
c.795C>T (p.Ser265=)
c.1206C>T (p.Ser402=)
c.2307C>T (p.Ser769=)
c.2394C>T (p.Ser798=)
c.2325C>T (p.Ser775=)
c.1857C>T (p.Ser619=)
 COSMIC
Xg.41531097G>CCA412990238CASKc.2379C>G (p.Ser793Arg)
c.2376C>G (p.Ser792Arg)
c.2430C>G (p.Ser810Arg)
c.2328C>G (p.Ser776Arg)
c.2433C>G (p.Ser811Arg)
c.1050C>G (p.Ser350Arg)
c.2361C>G (p.Ser787Arg)
c.2292C>G (p.Ser764Arg)
n.1209C>G
c.202C>G
c.2412C>G (p.Ser804Arg)
c.2343C>G (p.Ser781Arg)
c.2415C>G (p.Ser805Arg)
n.2661C>G
c.2397C>G (p.Ser799Arg)
c.1752C>G (p.Ser584Arg)
c.2346C>G (p.Ser782Arg)
c.2364C>G (p.Ser788Arg)
c.795C>G (p.Ser265Arg)
c.1206C>G (p.Ser402Arg)
c.2307C>G (p.Ser769Arg)
c.2394C>G (p.Ser798Arg)
c.2325C>G (p.Ser775Arg)
c.1857C>G (p.Ser619Arg)
Xg.41531097G>TCA412990240CASKc.2379C>A (p.Ser793Arg)
c.2376C>A (p.Ser792Arg)
c.2430C>A (p.Ser810Arg)
c.2328C>A (p.Ser776Arg)
c.2433C>A (p.Ser811Arg)
c.1050C>A (p.Ser350Arg)
c.2361C>A (p.Ser787Arg)
c.2292C>A (p.Ser764Arg)
n.1209C>A
c.202C>A
c.2412C>A (p.Ser804Arg)
c.2343C>A (p.Ser781Arg)
c.2415C>A (p.Ser805Arg)
n.2661C>A
c.2397C>A (p.Ser799Arg)
c.1752C>A (p.Ser584Arg)
c.2346C>A (p.Ser782Arg)
c.2364C>A (p.Ser788Arg)
c.795C>A (p.Ser265Arg)
c.1206C>A (p.Ser402Arg)
c.2307C>A (p.Ser769Arg)
c.2394C>A (p.Ser798Arg)
c.2325C>A (p.Ser775Arg)
c.1857C>A (p.Ser619Arg)
Xg.41531098C>ACA412990241CASKc.2378G>T (p.Ser793Ile)
c.2375G>T (p.Ser792Ile)
c.2429G>T (p.Ser810Ile)
c.2327G>T (p.Ser776Ile)
c.2432G>T (p.Ser811Ile)
c.1049G>T (p.Ser350Ile)
c.2360G>T (p.Ser787Ile)
c.2291G>T (p.Ser764Ile)
n.1208G>T
c.201G>T
c.2411G>T (p.Ser804Ile)
c.2342G>T (p.Ser781Ile)
c.2414G>T (p.Ser805Ile)
n.2660G>T
c.2396G>T (p.Ser799Ile)
c.1751G>T (p.Ser584Ile)
c.2345G>T (p.Ser782Ile)
c.2363G>T (p.Ser788Ile)
c.794G>T (p.Ser265Ile)
c.1205G>T (p.Ser402Ile)
c.2306G>T (p.Ser769Ile)
c.2393G>T (p.Ser798Ile)
c.2324G>T (p.Ser775Ile)
c.1856G>T (p.Ser619Ile)
Xg.41531098C=CA2425947694CASKc.2378G= (p.Ser793=)
c.2375G= (p.Ser792=)
c.2429G= (p.Ser810=)
c.2327G= (p.Ser776=)
c.2432G= (p.Ser811=)
c.1049G= (p.Ser350=)
c.2360G= (p.Ser787=)
c.2291G= (p.Ser764=)
n.1208G=
c.201G=
c.2411G= (p.Ser804=)
c.2342G= (p.Ser781=)
c.2414G= (p.Ser805=)
n.2660G=
c.2396G= (p.Ser799=)
c.1751G= (p.Ser584=)
c.2345G= (p.Ser782=)
c.2363G= (p.Ser788=)
c.794G= (p.Ser265=)
c.1205G= (p.Ser402=)
c.2306G= (p.Ser769=)
c.2393G= (p.Ser798=)
c.2324G= (p.Ser775=)
c.1856G= (p.Ser619=)
Xg.41531098C>GCA412990243CASKc.2378G>C (p.Ser793Thr)
c.2375G>C (p.Ser792Thr)
c.2429G>C (p.Ser810Thr)
c.2327G>C (p.Ser776Thr)
c.2432G>C (p.Ser811Thr)
c.1049G>C (p.Ser350Thr)
c.2360G>C (p.Ser787Thr)
c.2291G>C (p.Ser764Thr)
n.1208G>C
c.201G>C
c.2411G>C (p.Ser804Thr)
c.2342G>C (p.Ser781Thr)
c.2414G>C (p.Ser805Thr)
n.2660G>C
c.2396G>C (p.Ser799Thr)
c.1751G>C (p.Ser584Thr)
c.2345G>C (p.Ser782Thr)
c.2363G>C (p.Ser788Thr)
c.794G>C (p.Ser265Thr)
c.1205G>C (p.Ser402Thr)
c.2306G>C (p.Ser769Thr)
c.2393G>C (p.Ser798Thr)
c.2324G>C (p.Ser775Thr)
c.1856G>C (p.Ser619Thr)
Xg.41531098C>TCA412990245CASKc.2378G>A (p.Ser793Asn)
c.2375G>A (p.Ser792Asn)
c.2429G>A (p.Ser810Asn)
c.2327G>A (p.Ser776Asn)
c.2432G>A (p.Ser811Asn)
c.1049G>A (p.Ser350Asn)
c.2360G>A (p.Ser787Asn)
c.2291G>A (p.Ser764Asn)
n.1208G>A
c.201G>A
c.2411G>A (p.Ser804Asn)
c.2342G>A (p.Ser781Asn)
c.2414G>A (p.Ser805Asn)
n.2660G>A
c.2396G>A (p.Ser799Asn)
c.1751G>A (p.Ser584Asn)
c.2345G>A (p.Ser782Asn)
c.2363G>A (p.Ser788Asn)
c.794G>A (p.Ser265Asn)
c.1205G>A (p.Ser402Asn)
c.2306G>A (p.Ser769Asn)
c.2393G>A (p.Ser798Asn)
c.2324G>A (p.Ser775Asn)
c.1856G>A (p.Ser619Asn)
 ClinVar dbSNP gnomAD v4
Xg.41531099T>ACA412990246CASKc.2377A>T (p.Ser793Cys)
c.2374A>T (p.Ser792Cys)
c.2428A>T (p.Ser810Cys)
c.2326A>T (p.Ser776Cys)
c.2431A>T (p.Ser811Cys)
c.1048A>T (p.Ser350Cys)
c.2359A>T (p.Ser787Cys)
c.2290A>T (p.Ser764Cys)
n.1207A>T
c.200A>T
c.2410A>T (p.Ser804Cys)
c.2341A>T (p.Ser781Cys)
c.2413A>T (p.Ser805Cys)
n.2659A>T
c.2395A>T (p.Ser799Cys)
c.1750A>T (p.Ser584Cys)
c.2344A>T (p.Ser782Cys)
c.2362A>T (p.Ser788Cys)
c.793A>T (p.Ser265Cys)
c.1204A>T (p.Ser402Cys)
c.2305A>T (p.Ser769Cys)
c.2392A>T (p.Ser798Cys)
c.2323A>T (p.Ser775Cys)
c.1855A>T (p.Ser619Cys)
Xg.41531099T>CCA412990248CASKc.2377A>G (p.Ser793Gly)
c.2374A>G (p.Ser792Gly)
c.2428A>G (p.Ser810Gly)
c.2326A>G (p.Ser776Gly)
c.2431A>G (p.Ser811Gly)
c.1048A>G (p.Ser350Gly)
c.2359A>G (p.Ser787Gly)
c.2290A>G (p.Ser764Gly)
n.1207A>G
c.200A>G
c.2410A>G (p.Ser804Gly)
c.2341A>G (p.Ser781Gly)
c.2413A>G (p.Ser805Gly)
n.2659A>G
c.2395A>G (p.Ser799Gly)
c.1750A>G (p.Ser584Gly)
c.2344A>G (p.Ser782Gly)
c.2362A>G (p.Ser788Gly)
c.793A>G (p.Ser265Gly)
c.1204A>G (p.Ser402Gly)
c.2305A>G (p.Ser769Gly)
c.2392A>G (p.Ser798Gly)
c.2323A>G (p.Ser775Gly)
c.1855A>G (p.Ser619Gly)
Xg.41531099T>GCA412990249CASKc.2377A>C (p.Ser793Arg)
c.2374A>C (p.Ser792Arg)
c.2428A>C (p.Ser810Arg)
c.2326A>C (p.Ser776Arg)
c.2431A>C (p.Ser811Arg)
c.1048A>C (p.Ser350Arg)
c.2359A>C (p.Ser787Arg)
c.2290A>C (p.Ser764Arg)
n.1207A>C
c.200A>C
c.2410A>C (p.Ser804Arg)
c.2341A>C (p.Ser781Arg)
c.2413A>C (p.Ser805Arg)
n.2659A>C
c.2395A>C (p.Ser799Arg)
c.1750A>C (p.Ser584Arg)
c.2344A>C (p.Ser782Arg)
c.2362A>C (p.Ser788Arg)
c.793A>C (p.Ser265Arg)
c.1204A>C (p.Ser402Arg)
c.2305A>C (p.Ser769Arg)
c.2392A>C (p.Ser798Arg)
c.2323A>C (p.Ser775Arg)
c.1855A>C (p.Ser619Arg)
Xg.41531099T=CA2425947695CASKc.2377A= (p.Ser793=)
c.2374A= (p.Ser792=)
c.2428A= (p.Ser810=)
c.2326A= (p.Ser776=)
c.2431A= (p.Ser811=)
c.1048A= (p.Ser350=)
c.2359A= (p.Ser787=)
c.2290A= (p.Ser764=)
n.1207A=
c.200A=
c.2410A= (p.Ser804=)
c.2341A= (p.Ser781=)
c.2413A= (p.Ser805=)
n.2659A=
c.2395A= (p.Ser799=)
c.1750A= (p.Ser584=)
c.2344A= (p.Ser782=)
c.2362A= (p.Ser788=)
c.793A= (p.Ser265=)
c.1204A= (p.Ser402=)
c.2305A= (p.Ser769=)
c.2392A= (p.Ser798=)
c.2323A= (p.Ser775=)
c.1855A= (p.Ser619=)
Xg.41531100G>ACA516099231CASKc.2376C>T (p.Gly792=)
c.2373C>T (p.Gly791=)
c.2427C>T (p.Gly809=)
c.2325C>T (p.Gly775=)
c.2430C>T (p.Gly810=)
c.1047C>T (p.Gly349=)
c.2358C>T (p.Gly786=)
c.2289C>T (p.Gly763=)
n.1206C>T
c.199C>T
c.2409C>T (p.Gly803=)
c.2340C>T (p.Gly780=)
c.2412C>T (p.Gly804=)
n.2658C>T
c.2394C>T (p.Gly798=)
c.1749C>T (p.Gly583=)
c.2343C>T (p.Gly781=)
c.2361C>T (p.Gly787=)
c.792C>T (p.Gly264=)
c.1203C>T (p.Gly401=)
c.2304C>T (p.Gly768=)
c.2391C>T (p.Gly797=)
c.2322C>T (p.Gly774=)
c.1854C>T (p.Gly618=)
Xg.41531100G>CCA516099230CASKc.2376C>G (p.Gly792=)
c.2373C>G (p.Gly791=)
c.2427C>G (p.Gly809=)
c.2325C>G (p.Gly775=)
c.2430C>G (p.Gly810=)
c.1047C>G (p.Gly349=)
c.2358C>G (p.Gly786=)
c.2289C>G (p.Gly763=)
n.1206C>G
c.199C>G
c.2409C>G (p.Gly803=)
c.2340C>G (p.Gly780=)
c.2412C>G (p.Gly804=)
n.2658C>G
c.2394C>G (p.Gly798=)
c.1749C>G (p.Gly583=)
c.2343C>G (p.Gly781=)
c.2361C>G (p.Gly787=)
c.792C>G (p.Gly264=)
c.1203C>G (p.Gly401=)
c.2304C>G (p.Gly768=)
c.2391C>G (p.Gly797=)
c.2322C>G (p.Gly774=)
c.1854C>G (p.Gly618=)
Xg.41531100G>TCA516099229CASKc.2376C>A (p.Gly792=)
c.2373C>A (p.Gly791=)
c.2427C>A (p.Gly809=)
c.2325C>A (p.Gly775=)
c.2430C>A (p.Gly810=)
c.1047C>A (p.Gly349=)
c.2358C>A (p.Gly786=)
c.2289C>A (p.Gly763=)
n.1206C>A
c.199C>A
c.2409C>A (p.Gly803=)
c.2340C>A (p.Gly780=)
c.2412C>A (p.Gly804=)
n.2658C>A
c.2394C>A (p.Gly798=)
c.1749C>A (p.Gly583=)
c.2343C>A (p.Gly781=)
c.2361C>A (p.Gly787=)
c.792C>A (p.Gly264=)
c.1203C>A (p.Gly401=)
c.2304C>A (p.Gly768=)
c.2391C>A (p.Gly797=)
c.2322C>A (p.Gly774=)
c.1854C>A (p.Gly618=)
Xg.41531100dupCA412990251CASKc.2376dup (p.Ser793GlnfsTer?)
c.2373dup (p.Ser792GlnfsTer?)
c.2427dup (p.Ser810GlnfsTer?)
c.2325dup (p.Ser776GlnfsTer?)
c.2430dup (p.Ser811GlnfsTer?)
c.1047dup (p.Ser350GlnfsTer?)
c.2358dup (p.Ser787GlnfsTer?)
c.2289dup (p.Ser764GlnfsTer?)
n.1206dup
c.199dup
c.2409dup (p.Ser804GlnfsTer?)
c.2340dup (p.Ser781GlnfsTer?)
c.2412dup (p.Ser805GlnfsTer?)
n.2658dup
c.2394dup (p.Ser799GlnfsTer?)
c.1749dup (p.Ser584GlnfsTer?)
c.2343dup (p.Ser782GlnfsTer?)
c.2361dup (p.Ser788GlnfsTer?)
c.792dup (p.Ser265GlnfsTer?)
c.1203dup (p.Ser402GlnfsTer?)
c.2304dup (p.Ser769GlnfsTer?)
c.2391dup (p.Ser798GlnfsTer?)
c.2322dup (p.Ser775GlnfsTer?)
c.1854dup (p.Ser619GlnfsTer?)
 dbSNP
Xg.41531101C>ACA412990255CASKc.2375G>T (p.Gly792Val)
c.2372G>T (p.Gly791Val)
c.2426G>T (p.Gly809Val)
c.2324G>T (p.Gly775Val)
c.2429G>T (p.Gly810Val)
c.1046G>T (p.Gly349Val)
c.2357G>T (p.Gly786Val)
c.2288G>T (p.Gly763Val)
n.1205G>T
c.198G>T
c.2408G>T (p.Gly803Val)
c.2339G>T (p.Gly780Val)
c.2411G>T (p.Gly804Val)
n.2657G>T
c.2393G>T (p.Gly798Val)
c.1748G>T (p.Gly583Val)
c.2342G>T (p.Gly781Val)
c.2360G>T (p.Gly787Val)
c.791G>T (p.Gly264Val)
c.1202G>T (p.Gly401Val)
c.2303G>T (p.Gly768Val)
c.2390G>T (p.Gly797Val)
c.2321G>T (p.Gly774Val)
c.1853G>T (p.Gly618Val)
Xg.41531101C=CA2425947696CASKc.2375G= (p.Gly792=)
c.2372G= (p.Gly791=)
c.2426G= (p.Gly809=)
c.2324G= (p.Gly775=)
c.2429G= (p.Gly810=)
c.1046G= (p.Gly349=)
c.2357G= (p.Gly786=)
c.2288G= (p.Gly763=)
n.1205G=
c.198G=
c.2408G= (p.Gly803=)
c.2339G= (p.Gly780=)
c.2411G= (p.Gly804=)
n.2657G=
c.2393G= (p.Gly798=)
c.1748G= (p.Gly583=)
c.2342G= (p.Gly781=)
c.2360G= (p.Gly787=)
c.791G= (p.Gly264=)
c.1202G= (p.Gly401=)
c.2303G= (p.Gly768=)
c.2390G= (p.Gly797=)
c.2321G= (p.Gly774=)
c.1853G= (p.Gly618=)
Xg.41531101C>GCA10390023CASKc.2375G>C (p.Gly792Ala)
c.2372G>C (p.Gly791Ala)
c.2426G>C (p.Gly809Ala)
c.2324G>C (p.Gly775Ala)
c.2429G>C (p.Gly810Ala)
c.1046G>C (p.Gly349Ala)
c.2357G>C (p.Gly786Ala)
c.2288G>C (p.Gly763Ala)
n.1205G>C
c.198G>C
c.2408G>C (p.Gly803Ala)
c.2339G>C (p.Gly780Ala)
c.2411G>C (p.Gly804Ala)
n.2657G>C
c.2393G>C (p.Gly798Ala)
c.1748G>C (p.Gly583Ala)
c.2342G>C (p.Gly781Ala)
c.2360G>C (p.Gly787Ala)
c.791G>C (p.Gly264Ala)
c.1202G>C (p.Gly401Ala)
c.2303G>C (p.Gly768Ala)
c.2390G>C (p.Gly797Ala)
c.2321G>C (p.Gly774Ala)
c.1853G>C (p.Gly618Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41531101C>TCA412990254CASKc.2375G>A (p.Gly792Asp)
c.2372G>A (p.Gly791Asp)
c.2426G>A (p.Gly809Asp)
c.2324G>A (p.Gly775Asp)
c.2429G>A (p.Gly810Asp)
c.1046G>A (p.Gly349Asp)
c.2357G>A (p.Gly786Asp)
c.2288G>A (p.Gly763Asp)
n.1205G>A
c.198G>A
c.2408G>A (p.Gly803Asp)
c.2339G>A (p.Gly780Asp)
c.2411G>A (p.Gly804Asp)
n.2657G>A
c.2393G>A (p.Gly798Asp)
c.1748G>A (p.Gly583Asp)
c.2342G>A (p.Gly781Asp)
c.2360G>A (p.Gly787Asp)
c.791G>A (p.Gly264Asp)
c.1202G>A (p.Gly401Asp)
c.2303G>A (p.Gly768Asp)
c.2390G>A (p.Gly797Asp)
c.2321G>A (p.Gly774Asp)
c.1853G>A (p.Gly618Asp)
Xg.41531102C>ACA412990257CASKc.2374G>T (p.Gly792Cys)
c.2371G>T (p.Gly791Cys)
c.2425G>T (p.Gly809Cys)
c.2323G>T (p.Gly775Cys)
c.2428G>T (p.Gly810Cys)
c.1045G>T (p.Gly349Cys)
c.2356G>T (p.Gly786Cys)
c.2287G>T (p.Gly763Cys)
n.1204G>T
c.197G>T
c.2407G>T (p.Gly803Cys)
c.2338G>T (p.Gly780Cys)
c.2410G>T (p.Gly804Cys)
n.2656G>T
c.2392G>T (p.Gly798Cys)
c.1747G>T (p.Gly583Cys)
c.2341G>T (p.Gly781Cys)
c.2359G>T (p.Gly787Cys)
c.790G>T (p.Gly264Cys)
c.1201G>T (p.Gly401Cys)
c.2302G>T (p.Gly768Cys)
c.2389G>T (p.Gly797Cys)
c.2320G>T (p.Gly774Cys)
c.1852G>T (p.Gly618Cys)
Xg.41531102C=CA2425947697CASKc.2374G= (p.Gly792=)
c.2371G= (p.Gly791=)
c.2425G= (p.Gly809=)
c.2323G= (p.Gly775=)
c.2428G= (p.Gly810=)
c.1045G= (p.Gly349=)
c.2356G= (p.Gly786=)
c.2287G= (p.Gly763=)
n.1204G=
c.197G=
c.2407G= (p.Gly803=)
c.2338G= (p.Gly780=)
c.2410G= (p.Gly804=)
n.2656G=
c.2392G= (p.Gly798=)
c.1747G= (p.Gly583=)
c.2341G= (p.Gly781=)
c.2359G= (p.Gly787=)
c.790G= (p.Gly264=)
c.1201G= (p.Gly401=)
c.2302G= (p.Gly768=)
c.2389G= (p.Gly797=)
c.2320G= (p.Gly774=)
c.1852G= (p.Gly618=)
Xg.41531102C>GCA412990259CASKc.2374G>C (p.Gly792Arg)
c.2371G>C (p.Gly791Arg)
c.2425G>C (p.Gly809Arg)
c.2323G>C (p.Gly775Arg)
c.2428G>C (p.Gly810Arg)
c.1045G>C (p.Gly349Arg)
c.2356G>C (p.Gly786Arg)
c.2287G>C (p.Gly763Arg)
n.1204G>C
c.197G>C
c.2407G>C (p.Gly803Arg)
c.2338G>C (p.Gly780Arg)
c.2410G>C (p.Gly804Arg)
n.2656G>C
c.2392G>C (p.Gly798Arg)
c.1747G>C (p.Gly583Arg)
c.2341G>C (p.Gly781Arg)
c.2359G>C (p.Gly787Arg)
c.790G>C (p.Gly264Arg)
c.1201G>C (p.Gly401Arg)
c.2302G>C (p.Gly768Arg)
c.2389G>C (p.Gly797Arg)
c.2320G>C (p.Gly774Arg)
c.1852G>C (p.Gly618Arg)
Xg.41531102C>TCA16621395CASKc.2374G>A (p.Gly792Ser)
c.2371G>A (p.Gly791Ser)
c.2425G>A (p.Gly809Ser)
c.2323G>A (p.Gly775Ser)
c.2428G>A (p.Gly810Ser)
c.1045G>A (p.Gly349Ser)
c.2356G>A (p.Gly786Ser)
c.2287G>A (p.Gly763Ser)
n.1204G>A
c.197G>A
c.2407G>A (p.Gly803Ser)
c.2338G>A (p.Gly780Ser)
c.2410G>A (p.Gly804Ser)
n.2656G>A
c.2392G>A (p.Gly798Ser)
c.1747G>A (p.Gly583Ser)
c.2341G>A (p.Gly781Ser)
c.2359G>A (p.Gly787Ser)
c.790G>A (p.Gly264Ser)
c.1201G>A (p.Gly401Ser)
c.2302G>A (p.Gly768Ser)
c.2389G>A (p.Gly797Ser)
c.2320G>A (p.Gly774Ser)
c.1852G>A (p.Gly618Ser)
 ClinVar dbSNP gnomAD v4

Number of alleles fetched