Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41523942G>ACA641573785CASKc.2553+9C>T (n.2553+9C>T)
c.2550+9C>T (n.2550+9C>T)
c.2604+9C>T (n.2604+9C>T)
c.2502+9C>T (n.2502+9C>T)
c.2607+9C>T (n.2607+9C>T)
c.1224+9C>T (n.1224+9C>T)
c.2535+9C>T (n.2535+9C>T)
c.2466+9C>T (n.2466+9C>T)
n.1383+9C>T
n.763+9C>T
c.376+9C>T
c.2586+9C>T (n.2586+9C>T)
c.2517+9C>T (n.2517+9C>T)
c.2589+9C>T (n.2589+9C>T)
n.2835+9C>T
c.2691+9C>T (n.2691+9C>T)
c.1926+9C>T (n.1926+9C>T)
c.2520+9C>T (n.2520+9C>T)
c.2538+9C>T (n.2538+9C>T)
c.969+9C>T (n.969+9C>T)
c.1380+9C>T (n.1380+9C>T)
c.2481+9C>T (n.2481+9C>T)
c.2568+9C>T (n.2568+9C>T)
c.2499+9C>T (n.2499+9C>T)
c.2031+9C>T (n.2031+9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41523942G=CA2425945434CASKc.2553+9C= (n.2553+9C=)
c.2550+9C= (n.2550+9C=)
c.2604+9C= (n.2604+9C=)
c.2502+9C= (n.2502+9C=)
c.2607+9C= (n.2607+9C=)
c.1224+9C= (n.1224+9C=)
c.2535+9C= (n.2535+9C=)
c.2466+9C= (n.2466+9C=)
n.1383+9C=
n.763+9C=
c.376+9C=
c.2586+9C= (n.2586+9C=)
c.2517+9C= (n.2517+9C=)
c.2589+9C= (n.2589+9C=)
n.2835+9C=
c.2691+9C= (n.2691+9C=)
c.1926+9C= (n.1926+9C=)
c.2520+9C= (n.2520+9C=)
c.2538+9C= (n.2538+9C=)
c.969+9C= (n.969+9C=)
c.1380+9C= (n.1380+9C=)
c.2481+9C= (n.2481+9C=)
c.2568+9C= (n.2568+9C=)
c.2499+9C= (n.2499+9C=)
c.2031+9C= (n.2031+9C=)
Xg.41523942G>TCA2693493300CASKc.2553+9C>A (n.2553+9C>A)
c.2550+9C>A (n.2550+9C>A)
c.2604+9C>A (n.2604+9C>A)
c.2502+9C>A (n.2502+9C>A)
c.2607+9C>A (n.2607+9C>A)
c.1224+9C>A (n.1224+9C>A)
c.2535+9C>A (n.2535+9C>A)
c.2466+9C>A (n.2466+9C>A)
n.1383+9C>A
n.763+9C>A
c.376+9C>A
c.2586+9C>A (n.2586+9C>A)
c.2517+9C>A (n.2517+9C>A)
c.2589+9C>A (n.2589+9C>A)
n.2835+9C>A
c.2691+9C>A (n.2691+9C>A)
c.1926+9C>A (n.1926+9C>A)
c.2520+9C>A (n.2520+9C>A)
c.2538+9C>A (n.2538+9C>A)
c.969+9C>A (n.969+9C>A)
c.1380+9C>A (n.1380+9C>A)
c.2481+9C>A (n.2481+9C>A)
c.2568+9C>A (n.2568+9C>A)
c.2499+9C>A (n.2499+9C>A)
c.2031+9C>A (n.2031+9C>A)
 gnomAD v4
Xg.41523944T>CCA2693493301CASKc.2553+7A>G (n.2553+7A>G)
c.2550+7A>G (n.2550+7A>G)
c.2604+7A>G (n.2604+7A>G)
c.2502+7A>G (n.2502+7A>G)
c.2607+7A>G (n.2607+7A>G)
c.1224+7A>G (n.1224+7A>G)
c.2535+7A>G (n.2535+7A>G)
c.2466+7A>G (n.2466+7A>G)
n.1383+7A>G
n.763+7A>G
c.376+7A>G
c.2586+7A>G (n.2586+7A>G)
c.2517+7A>G (n.2517+7A>G)
c.2589+7A>G (n.2589+7A>G)
n.2835+7A>G
c.2691+7A>G (n.2691+7A>G)
c.1926+7A>G (n.1926+7A>G)
c.2520+7A>G (n.2520+7A>G)
c.2538+7A>G (n.2538+7A>G)
c.969+7A>G (n.969+7A>G)
c.1380+7A>G (n.1380+7A>G)
c.2481+7A>G (n.2481+7A>G)
c.2568+7A>G (n.2568+7A>G)
c.2499+7A>G (n.2499+7A>G)
c.2031+7A>G (n.2031+7A>G)
 gnomAD v4
Xg.41523944T>GCA915951005CASKc.2553+7A>C (n.2553+7A>C)
c.2550+7A>C (n.2550+7A>C)
c.2604+7A>C (n.2604+7A>C)
c.2502+7A>C (n.2502+7A>C)
c.2607+7A>C (n.2607+7A>C)
c.1224+7A>C (n.1224+7A>C)
c.2535+7A>C (n.2535+7A>C)
c.2466+7A>C (n.2466+7A>C)
n.1383+7A>C
n.763+7A>C
c.376+7A>C
c.2586+7A>C (n.2586+7A>C)
c.2517+7A>C (n.2517+7A>C)
c.2589+7A>C (n.2589+7A>C)
n.2835+7A>C
c.2691+7A>C (n.2691+7A>C)
c.1926+7A>C (n.1926+7A>C)
c.2520+7A>C (n.2520+7A>C)
c.2538+7A>C (n.2538+7A>C)
c.969+7A>C (n.969+7A>C)
c.1380+7A>C (n.1380+7A>C)
c.2481+7A>C (n.2481+7A>C)
c.2568+7A>C (n.2568+7A>C)
c.2499+7A>C (n.2499+7A>C)
c.2031+7A>C (n.2031+7A>C)
 ClinVar dbSNP gnomAD v4
Xg.41523944T=CA2425945435CASKc.2553+7A= (n.2553+7A=)
c.2550+7A= (n.2550+7A=)
c.2604+7A= (n.2604+7A=)
c.2502+7A= (n.2502+7A=)
c.2607+7A= (n.2607+7A=)
c.1224+7A= (n.1224+7A=)
c.2535+7A= (n.2535+7A=)
c.2466+7A= (n.2466+7A=)
n.1383+7A=
n.763+7A=
c.376+7A=
c.2586+7A= (n.2586+7A=)
c.2517+7A= (n.2517+7A=)
c.2589+7A= (n.2589+7A=)
n.2835+7A=
c.2691+7A= (n.2691+7A=)
c.1926+7A= (n.1926+7A=)
c.2520+7A= (n.2520+7A=)
c.2538+7A= (n.2538+7A=)
c.969+7A= (n.969+7A=)
c.1380+7A= (n.1380+7A=)
c.2481+7A= (n.2481+7A=)
c.2568+7A= (n.2568+7A=)
c.2499+7A= (n.2499+7A=)
c.2031+7A= (n.2031+7A=)
Xg.41523946C=CA2425945436CASKc.2553+5G= (n.2553+5G=)
c.2550+5G= (n.2550+5G=)
c.2604+5G= (n.2604+5G=)
c.2502+5G= (n.2502+5G=)
c.2607+5G= (n.2607+5G=)
c.1224+5G= (n.1224+5G=)
c.2535+5G= (n.2535+5G=)
c.2466+5G= (n.2466+5G=)
n.1383+5G=
n.763+5G=
c.376+5G=
c.2586+5G= (n.2586+5G=)
c.2517+5G= (n.2517+5G=)
c.2589+5G= (n.2589+5G=)
n.2835+5G=
c.2691+5G= (n.2691+5G=)
c.1926+5G= (n.1926+5G=)
c.2520+5G= (n.2520+5G=)
c.2538+5G= (n.2538+5G=)
c.969+5G= (n.969+5G=)
c.1380+5G= (n.1380+5G=)
c.2481+5G= (n.2481+5G=)
c.2568+5G= (n.2568+5G=)
c.2499+5G= (n.2499+5G=)
c.2031+5G= (n.2031+5G=)
Xg.41523946C>GCA2820588814CASKc.2553+5G>C (n.2553+5G>C)
c.2550+5G>C (n.2550+5G>C)
c.2604+5G>C (n.2604+5G>C)
c.2502+5G>C (n.2502+5G>C)
c.2607+5G>C (n.2607+5G>C)
c.1224+5G>C (n.1224+5G>C)
c.2535+5G>C (n.2535+5G>C)
c.2466+5G>C (n.2466+5G>C)
n.1383+5G>C
n.763+5G>C
c.376+5G>C
c.2586+5G>C (n.2586+5G>C)
c.2517+5G>C (n.2517+5G>C)
c.2589+5G>C (n.2589+5G>C)
n.2835+5G>C
c.2691+5G>C (n.2691+5G>C)
c.1926+5G>C (n.1926+5G>C)
c.2520+5G>C (n.2520+5G>C)
c.2538+5G>C (n.2538+5G>C)
c.969+5G>C (n.969+5G>C)
c.1380+5G>C (n.1380+5G>C)
c.2481+5G>C (n.2481+5G>C)
c.2568+5G>C (n.2568+5G>C)
c.2499+5G>C (n.2499+5G>C)
c.2031+5G>C (n.2031+5G>C)
Xg.41523946C>TCA1139667441CASKc.2553+5G>A (n.2553+5G>A)
c.2550+5G>A (n.2550+5G>A)
c.2604+5G>A (n.2604+5G>A)
c.2502+5G>A (n.2502+5G>A)
c.2607+5G>A (n.2607+5G>A)
c.1224+5G>A (n.1224+5G>A)
c.2535+5G>A (n.2535+5G>A)
c.2466+5G>A (n.2466+5G>A)
n.1383+5G>A
n.763+5G>A
c.376+5G>A
c.2586+5G>A (n.2586+5G>A)
c.2517+5G>A (n.2517+5G>A)
c.2589+5G>A (n.2589+5G>A)
n.2835+5G>A
c.2691+5G>A (n.2691+5G>A)
c.1926+5G>A (n.1926+5G>A)
c.2520+5G>A (n.2520+5G>A)
c.2538+5G>A (n.2538+5G>A)
c.969+5G>A (n.969+5G>A)
c.1380+5G>A (n.1380+5G>A)
c.2481+5G>A (n.2481+5G>A)
c.2568+5G>A (n.2568+5G>A)
c.2499+5G>A (n.2499+5G>A)
c.2031+5G>A (n.2031+5G>A)
 ClinVar dbSNP
Xg.41523948T>CCA2573158858CASKc.2553+3A>G (n.2553+3A>G)
c.2550+3A>G (n.2550+3A>G)
c.2604+3A>G (n.2604+3A>G)
c.2502+3A>G (n.2502+3A>G)
c.2607+3A>G (n.2607+3A>G)
c.1224+3A>G (n.1224+3A>G)
c.2535+3A>G (n.2535+3A>G)
c.2466+3A>G (n.2466+3A>G)
n.1383+3A>G
n.763+3A>G
c.376+3A>G
c.2586+3A>G (n.2586+3A>G)
c.2517+3A>G (n.2517+3A>G)
c.2589+3A>G (n.2589+3A>G)
n.2835+3A>G
c.2691+3A>G (n.2691+3A>G)
c.1926+3A>G (n.1926+3A>G)
c.2520+3A>G (n.2520+3A>G)
c.2538+3A>G (n.2538+3A>G)
c.969+3A>G (n.969+3A>G)
c.1380+3A>G (n.1380+3A>G)
c.2481+3A>G (n.2481+3A>G)
c.2568+3A>G (n.2568+3A>G)
c.2499+3A>G (n.2499+3A>G)
c.2031+3A>G (n.2031+3A>G)
 ClinVar dbSNP
Xg.41523949A>CCA412989046CASKc.2553+2T>G (n.2553+2T>G)
c.2550+2T>G (n.2550+2T>G)
c.2604+2T>G (n.2604+2T>G)
c.2502+2T>G (n.2502+2T>G)
c.2607+2T>G (n.2607+2T>G)
c.1224+2T>G (n.1224+2T>G)
c.2535+2T>G (n.2535+2T>G)
c.2466+2T>G (n.2466+2T>G)
n.1383+2T>G
n.763+2T>G
c.376+2T>G
c.2586+2T>G (n.2586+2T>G)
c.2517+2T>G (n.2517+2T>G)
c.2589+2T>G (n.2589+2T>G)
n.2835+2T>G
c.2691+2T>G (n.2691+2T>G)
c.1926+2T>G (n.1926+2T>G)
c.2520+2T>G (n.2520+2T>G)
c.2538+2T>G (n.2538+2T>G)
c.969+2T>G (n.969+2T>G)
c.1380+2T>G (n.1380+2T>G)
c.2481+2T>G (n.2481+2T>G)
c.2568+2T>G (n.2568+2T>G)
c.2499+2T>G (n.2499+2T>G)
c.2031+2T>G (n.2031+2T>G)
Xg.41523949A>GCA412989047CASKc.2553+2T>C (n.2553+2T>C)
c.2550+2T>C (n.2550+2T>C)
c.2604+2T>C (n.2604+2T>C)
c.2502+2T>C (n.2502+2T>C)
c.2607+2T>C (n.2607+2T>C)
c.1224+2T>C (n.1224+2T>C)
c.2535+2T>C (n.2535+2T>C)
c.2466+2T>C (n.2466+2T>C)
n.1383+2T>C
n.763+2T>C
c.376+2T>C
c.2586+2T>C (n.2586+2T>C)
c.2517+2T>C (n.2517+2T>C)
c.2589+2T>C (n.2589+2T>C)
n.2835+2T>C
c.2691+2T>C (n.2691+2T>C)
c.1926+2T>C (n.1926+2T>C)
c.2520+2T>C (n.2520+2T>C)
c.2538+2T>C (n.2538+2T>C)
c.969+2T>C (n.969+2T>C)
c.1380+2T>C (n.1380+2T>C)
c.2481+2T>C (n.2481+2T>C)
c.2568+2T>C (n.2568+2T>C)
c.2499+2T>C (n.2499+2T>C)
c.2031+2T>C (n.2031+2T>C)
 gnomAD v4
Xg.41523949A>TCA412989048CASKc.2553+2T>A (n.2553+2T>A)
c.2550+2T>A (n.2550+2T>A)
c.2604+2T>A (n.2604+2T>A)
c.2502+2T>A (n.2502+2T>A)
c.2607+2T>A (n.2607+2T>A)
c.1224+2T>A (n.1224+2T>A)
c.2535+2T>A (n.2535+2T>A)
c.2466+2T>A (n.2466+2T>A)
n.1383+2T>A
n.763+2T>A
c.376+2T>A
c.2586+2T>A (n.2586+2T>A)
c.2517+2T>A (n.2517+2T>A)
c.2589+2T>A (n.2589+2T>A)
n.2835+2T>A
c.2691+2T>A (n.2691+2T>A)
c.1926+2T>A (n.1926+2T>A)
c.2520+2T>A (n.2520+2T>A)
c.2538+2T>A (n.2538+2T>A)
c.969+2T>A (n.969+2T>A)
c.1380+2T>A (n.1380+2T>A)
c.2481+2T>A (n.2481+2T>A)
c.2568+2T>A (n.2568+2T>A)
c.2499+2T>A (n.2499+2T>A)
c.2031+2T>A (n.2031+2T>A)
 gnomAD v4
Xg.41523950C>ACA412989049CASKc.2553+1G>T (n.2553+1G>T)
c.2550+1G>T (n.2550+1G>T)
c.2604+1G>T (n.2604+1G>T)
c.2502+1G>T (n.2502+1G>T)
c.2607+1G>T (n.2607+1G>T)
c.1224+1G>T (n.1224+1G>T)
c.2535+1G>T (n.2535+1G>T)
c.2466+1G>T (n.2466+1G>T)
n.1383+1G>T
n.763+1G>T
c.376+1G>T
c.2586+1G>T (n.2586+1G>T)
c.2517+1G>T (n.2517+1G>T)
c.2589+1G>T (n.2589+1G>T)
n.2835+1G>T
c.2691+1G>T (n.2691+1G>T)
c.1926+1G>T (n.1926+1G>T)
c.2520+1G>T (n.2520+1G>T)
c.2538+1G>T (n.2538+1G>T)
c.969+1G>T (n.969+1G>T)
c.1380+1G>T (n.1380+1G>T)
c.2481+1G>T (n.2481+1G>T)
c.2568+1G>T (n.2568+1G>T)
c.2499+1G>T (n.2499+1G>T)
c.2031+1G>T (n.2031+1G>T)
 ClinVar dbSNP
Xg.41523950C=CA2425945437CASKc.2553+1G= (n.2553+1G=)
c.2550+1G= (n.2550+1G=)
c.2604+1G= (n.2604+1G=)
c.2502+1G= (n.2502+1G=)
c.2607+1G= (n.2607+1G=)
c.1224+1G= (n.1224+1G=)
c.2535+1G= (n.2535+1G=)
c.2466+1G= (n.2466+1G=)
n.1383+1G=
n.763+1G=
c.376+1G=
c.2586+1G= (n.2586+1G=)
c.2517+1G= (n.2517+1G=)
c.2589+1G= (n.2589+1G=)
n.2835+1G=
c.2691+1G= (n.2691+1G=)
c.1926+1G= (n.1926+1G=)
c.2520+1G= (n.2520+1G=)
c.2538+1G= (n.2538+1G=)
c.969+1G= (n.969+1G=)
c.1380+1G= (n.1380+1G=)
c.2481+1G= (n.2481+1G=)
c.2568+1G= (n.2568+1G=)
c.2499+1G= (n.2499+1G=)
c.2031+1G= (n.2031+1G=)
Xg.41523950C>GCA412989050CASKc.2553+1G>C (n.2553+1G>C)
c.2550+1G>C (n.2550+1G>C)
c.2604+1G>C (n.2604+1G>C)
c.2502+1G>C (n.2502+1G>C)
c.2607+1G>C (n.2607+1G>C)
c.1224+1G>C (n.1224+1G>C)
c.2535+1G>C (n.2535+1G>C)
c.2466+1G>C (n.2466+1G>C)
n.1383+1G>C
n.763+1G>C
c.376+1G>C
c.2586+1G>C (n.2586+1G>C)
c.2517+1G>C (n.2517+1G>C)
c.2589+1G>C (n.2589+1G>C)
n.2835+1G>C
c.2691+1G>C (n.2691+1G>C)
c.1926+1G>C (n.1926+1G>C)
c.2520+1G>C (n.2520+1G>C)
c.2538+1G>C (n.2538+1G>C)
c.969+1G>C (n.969+1G>C)
c.1380+1G>C (n.1380+1G>C)
c.2481+1G>C (n.2481+1G>C)
c.2568+1G>C (n.2568+1G>C)
c.2499+1G>C (n.2499+1G>C)
c.2031+1G>C (n.2031+1G>C)
Xg.41523950C>TCA412989051CASKc.2553+1G>A (n.2553+1G>A)
c.2550+1G>A (n.2550+1G>A)
c.2604+1G>A (n.2604+1G>A)
c.2502+1G>A (n.2502+1G>A)
c.2607+1G>A (n.2607+1G>A)
c.1224+1G>A (n.1224+1G>A)
c.2535+1G>A (n.2535+1G>A)
c.2466+1G>A (n.2466+1G>A)
n.1383+1G>A
n.763+1G>A
c.376+1G>A
c.2586+1G>A (n.2586+1G>A)
c.2517+1G>A (n.2517+1G>A)
c.2589+1G>A (n.2589+1G>A)
n.2835+1G>A
c.2691+1G>A (n.2691+1G>A)
c.1926+1G>A (n.1926+1G>A)
c.2520+1G>A (n.2520+1G>A)
c.2538+1G>A (n.2538+1G>A)
c.969+1G>A (n.969+1G>A)
c.1380+1G>A (n.1380+1G>A)
c.2481+1G>A (n.2481+1G>A)
c.2568+1G>A (n.2568+1G>A)
c.2499+1G>A (n.2499+1G>A)
c.2031+1G>A (n.2031+1G>A)
 gnomAD v4
Xg.41523951C>ACA412989052CASKc.2553G>T (p.Glu851Asp)
c.2550G>T (p.Glu850Asp)
c.2604G>T (p.Glu868Asp)
c.2502G>T (p.Glu834Asp)
c.2607G>T (p.Glu869Asp)
c.1224G>T (p.Glu408Asp)
c.2535G>T (p.Glu845Asp)
c.2466G>T (p.Glu822Asp)
n.1383G>T
n.763G>T
c.376G>T
c.2586G>T (p.Glu862Asp)
c.2517G>T (p.Glu839Asp)
c.2589G>T (p.Glu863Asp)
n.2835G>T
c.2691G>T (p.Glu897Asp)
c.1926G>T (p.Glu642Asp)
c.2520G>T (p.Glu840Asp)
c.2538G>T (p.Glu846Asp)
c.969G>T (p.Glu323Asp)
c.1380G>T (p.Glu460Asp)
c.2481G>T (p.Glu827Asp)
c.2568G>T (p.Glu856Asp)
c.2499G>T (p.Glu833Asp)
c.2031G>T (p.Glu677Asp)
Xg.41523951C>GCA412989053CASKc.2553G>C (p.Glu851Asp)
c.2550G>C (p.Glu850Asp)
c.2604G>C (p.Glu868Asp)
c.2502G>C (p.Glu834Asp)
c.2607G>C (p.Glu869Asp)
c.1224G>C (p.Glu408Asp)
c.2535G>C (p.Glu845Asp)
c.2466G>C (p.Glu822Asp)
n.1383G>C
n.763G>C
c.376G>C
c.2586G>C (p.Glu862Asp)
c.2517G>C (p.Glu839Asp)
c.2589G>C (p.Glu863Asp)
n.2835G>C
c.2691G>C (p.Glu897Asp)
c.1926G>C (p.Glu642Asp)
c.2520G>C (p.Glu840Asp)
c.2538G>C (p.Glu846Asp)
c.969G>C (p.Glu323Asp)
c.1380G>C (p.Glu460Asp)
c.2481G>C (p.Glu827Asp)
c.2568G>C (p.Glu856Asp)
c.2499G>C (p.Glu833Asp)
c.2031G>C (p.Glu677Asp)
Xg.41523951C>TCA516098937CASKc.2553G>A (p.Glu851=)
c.2550G>A (p.Glu850=)
c.2604G>A (p.Glu868=)
c.2502G>A (p.Glu834=)
c.2607G>A (p.Glu869=)
c.1224G>A (p.Glu408=)
c.2535G>A (p.Glu845=)
c.2466G>A (p.Glu822=)
n.1383G>A
n.763G>A
c.376G>A
c.2586G>A (p.Glu862=)
c.2517G>A (p.Glu839=)
c.2589G>A (p.Glu863=)
n.2835G>A
c.2691G>A (p.Glu897=)
c.1926G>A (p.Glu642=)
c.2520G>A (p.Glu840=)
c.2538G>A (p.Glu846=)
c.969G>A (p.Glu323=)
c.1380G>A (p.Glu460=)
c.2481G>A (p.Glu827=)
c.2568G>A (p.Glu856=)
c.2499G>A (p.Glu833=)
c.2031G>A (p.Glu677=)
Xg.41523952T>ACA412989056CASKc.2552A>T (p.Glu851Val)
c.2549A>T (p.Glu850Val)
c.2603A>T (p.Glu868Val)
c.2501A>T (p.Glu834Val)
c.2606A>T (p.Glu869Val)
c.1223A>T (p.Glu408Val)
c.2534A>T (p.Glu845Val)
c.2465A>T (p.Glu822Val)
n.1382A>T
n.762A>T
c.375A>T
c.2585A>T (p.Glu862Val)
c.2516A>T (p.Glu839Val)
c.2588A>T (p.Glu863Val)
n.2834A>T
c.2690A>T (p.Glu897Val)
c.1925A>T (p.Glu642Val)
c.2519A>T (p.Glu840Val)
c.2537A>T (p.Glu846Val)
c.968A>T (p.Glu323Val)
c.1379A>T (p.Glu460Val)
c.2480A>T (p.Glu827Val)
c.2567A>T (p.Glu856Val)
c.2498A>T (p.Glu833Val)
c.2030A>T (p.Glu677Val)
 gnomAD v4
Xg.41523952T>CCA412989054CASKc.2552A>G (p.Glu851Gly)
c.2549A>G (p.Glu850Gly)
c.2603A>G (p.Glu868Gly)
c.2501A>G (p.Glu834Gly)
c.2606A>G (p.Glu869Gly)
c.1223A>G (p.Glu408Gly)
c.2534A>G (p.Glu845Gly)
c.2465A>G (p.Glu822Gly)
n.1382A>G
n.762A>G
c.375A>G
c.2585A>G (p.Glu862Gly)
c.2516A>G (p.Glu839Gly)
c.2588A>G (p.Glu863Gly)
n.2834A>G
c.2690A>G (p.Glu897Gly)
c.1925A>G (p.Glu642Gly)
c.2519A>G (p.Glu840Gly)
c.2537A>G (p.Glu846Gly)
c.968A>G (p.Glu323Gly)
c.1379A>G (p.Glu460Gly)
c.2480A>G (p.Glu827Gly)
c.2567A>G (p.Glu856Gly)
c.2498A>G (p.Glu833Gly)
c.2030A>G (p.Glu677Gly)
Xg.41523952T>GCA412989055CASKc.2552A>C (p.Glu851Ala)
c.2549A>C (p.Glu850Ala)
c.2603A>C (p.Glu868Ala)
c.2501A>C (p.Glu834Ala)
c.2606A>C (p.Glu869Ala)
c.1223A>C (p.Glu408Ala)
c.2534A>C (p.Glu845Ala)
c.2465A>C (p.Glu822Ala)
n.1382A>C
n.762A>C
c.375A>C
c.2585A>C (p.Glu862Ala)
c.2516A>C (p.Glu839Ala)
c.2588A>C (p.Glu863Ala)
n.2834A>C
c.2690A>C (p.Glu897Ala)
c.1925A>C (p.Glu642Ala)
c.2519A>C (p.Glu840Ala)
c.2537A>C (p.Glu846Ala)
c.968A>C (p.Glu323Ala)
c.1379A>C (p.Glu460Ala)
c.2480A>C (p.Glu827Ala)
c.2567A>C (p.Glu856Ala)
c.2498A>C (p.Glu833Ala)
c.2030A>C (p.Glu677Ala)
Xg.41523953C>ACA412989057CASKc.2551G>T (p.Glu851Ter)
c.2548G>T (p.Glu850Ter)
c.2602G>T (p.Glu868Ter)
c.2500G>T (p.Glu834Ter)
c.2605G>T (p.Glu869Ter)
c.1222G>T (p.Glu408Ter)
c.2533G>T (p.Glu845Ter)
c.2464G>T (p.Glu822Ter)
n.1381G>T
n.761G>T
c.374G>T
c.2584G>T (p.Glu862Ter)
c.2515G>T (p.Glu839Ter)
c.2587G>T (p.Glu863Ter)
n.2833G>T
c.2689G>T (p.Glu897Ter)
c.1924G>T (p.Glu642Ter)
c.2518G>T (p.Glu840Ter)
c.2536G>T (p.Glu846Ter)
c.967G>T (p.Glu323Ter)
c.1378G>T (p.Glu460Ter)
c.2479G>T (p.Glu827Ter)
c.2566G>T (p.Glu856Ter)
c.2497G>T (p.Glu833Ter)
c.2029G>T (p.Glu677Ter)
Xg.41523953C>GCA412989058CASKc.2551G>C (p.Glu851Gln)
c.2548G>C (p.Glu850Gln)
c.2602G>C (p.Glu868Gln)
c.2500G>C (p.Glu834Gln)
c.2605G>C (p.Glu869Gln)
c.1222G>C (p.Glu408Gln)
c.2533G>C (p.Glu845Gln)
c.2464G>C (p.Glu822Gln)
n.1381G>C
n.761G>C
c.374G>C
c.2584G>C (p.Glu862Gln)
c.2515G>C (p.Glu839Gln)
c.2587G>C (p.Glu863Gln)
n.2833G>C
c.2689G>C (p.Glu897Gln)
c.1924G>C (p.Glu642Gln)
c.2518G>C (p.Glu840Gln)
c.2536G>C (p.Glu846Gln)
c.967G>C (p.Glu323Gln)
c.1378G>C (p.Glu460Gln)
c.2479G>C (p.Glu827Gln)
c.2566G>C (p.Glu856Gln)
c.2497G>C (p.Glu833Gln)
c.2029G>C (p.Glu677Gln)
 COSMIC COSMIC
Xg.41523953C>TCA412989059CASKc.2551G>A (p.Glu851Lys)
c.2548G>A (p.Glu850Lys)
c.2602G>A (p.Glu868Lys)
c.2500G>A (p.Glu834Lys)
c.2605G>A (p.Glu869Lys)
c.1222G>A (p.Glu408Lys)
c.2533G>A (p.Glu845Lys)
c.2464G>A (p.Glu822Lys)
n.1381G>A
n.761G>A
c.374G>A
c.2584G>A (p.Glu862Lys)
c.2515G>A (p.Glu839Lys)
c.2587G>A (p.Glu863Lys)
n.2833G>A
c.2689G>A (p.Glu897Lys)
c.1924G>A (p.Glu642Lys)
c.2518G>A (p.Glu840Lys)
c.2536G>A (p.Glu846Lys)
c.967G>A (p.Glu323Lys)
c.1378G>A (p.Glu460Lys)
c.2479G>A (p.Glu827Lys)
c.2566G>A (p.Glu856Lys)
c.2497G>A (p.Glu833Lys)
c.2029G>A (p.Glu677Lys)
 gnomAD v4
Xg.41523954A>CCA412989060CASKc.2550T>G (p.Asn850Lys)
c.2547T>G (p.Asn849Lys)
c.2601T>G (p.Asn867Lys)
c.2499T>G (p.Asn833Lys)
c.2604T>G (p.Asn868Lys)
c.1221T>G (p.Asn407Lys)
c.2532T>G (p.Asn844Lys)
c.2463T>G (p.Asn821Lys)
n.1380T>G
n.760T>G
c.373T>G
c.2583T>G (p.Asn861Lys)
c.2514T>G (p.Asn838Lys)
c.2586T>G (p.Asn862Lys)
n.2832T>G
c.2688T>G (p.Asn896Lys)
c.1923T>G (p.Asn641Lys)
c.2517T>G (p.Asn839Lys)
c.2535T>G (p.Asn845Lys)
c.966T>G (p.Asn322Lys)
c.1377T>G (p.Asn459Lys)
c.2478T>G (p.Asn826Lys)
c.2565T>G (p.Asn855Lys)
c.2496T>G (p.Asn832Lys)
c.2028T>G (p.Asn676Lys)
Xg.41523954A>GCA516098938CASKc.2550T>C (p.Asn850=)
c.2547T>C (p.Asn849=)
c.2601T>C (p.Asn867=)
c.2499T>C (p.Asn833=)
c.2604T>C (p.Asn868=)
c.1221T>C (p.Asn407=)
c.2532T>C (p.Asn844=)
c.2463T>C (p.Asn821=)
n.1380T>C
n.760T>C
c.373T>C
c.2583T>C (p.Asn861=)
c.2514T>C (p.Asn838=)
c.2586T>C (p.Asn862=)
n.2832T>C
c.2688T>C (p.Asn896=)
c.1923T>C (p.Asn641=)
c.2517T>C (p.Asn839=)
c.2535T>C (p.Asn845=)
c.966T>C (p.Asn322=)
c.1377T>C (p.Asn459=)
c.2478T>C (p.Asn826=)
c.2565T>C (p.Asn855=)
c.2496T>C (p.Asn832=)
c.2028T>C (p.Asn676=)
Xg.41523954A>TCA412989061CASKc.2550T>A (p.Asn850Lys)
c.2547T>A (p.Asn849Lys)
c.2601T>A (p.Asn867Lys)
c.2499T>A (p.Asn833Lys)
c.2604T>A (p.Asn868Lys)
c.1221T>A (p.Asn407Lys)
c.2532T>A (p.Asn844Lys)
c.2463T>A (p.Asn821Lys)
n.1380T>A
n.760T>A
c.373T>A
c.2583T>A (p.Asn861Lys)
c.2514T>A (p.Asn838Lys)
c.2586T>A (p.Asn862Lys)
n.2832T>A
c.2688T>A (p.Asn896Lys)
c.1923T>A (p.Asn641Lys)
c.2517T>A (p.Asn839Lys)
c.2535T>A (p.Asn845Lys)
c.966T>A (p.Asn322Lys)
c.1377T>A (p.Asn459Lys)
c.2478T>A (p.Asn826Lys)
c.2565T>A (p.Asn855Lys)
c.2496T>A (p.Asn832Lys)
c.2028T>A (p.Asn676Lys)
Xg.41523955T>ACA412989062CASKc.2549A>T (p.Asn850Ile)
c.2546A>T (p.Asn849Ile)
c.2600A>T (p.Asn867Ile)
c.2498A>T (p.Asn833Ile)
c.2603A>T (p.Asn868Ile)
c.1220A>T (p.Asn407Ile)
c.2531A>T (p.Asn844Ile)
c.2462A>T (p.Asn821Ile)
n.1379A>T
n.759A>T
c.372A>T
c.2582A>T (p.Asn861Ile)
c.2513A>T (p.Asn838Ile)
c.2585A>T (p.Asn862Ile)
n.2831A>T
c.2687A>T (p.Asn896Ile)
c.1922A>T (p.Asn641Ile)
c.2516A>T (p.Asn839Ile)
c.2534A>T (p.Asn845Ile)
c.965A>T (p.Asn322Ile)
c.1376A>T (p.Asn459Ile)
c.2477A>T (p.Asn826Ile)
c.2564A>T (p.Asn855Ile)
c.2495A>T (p.Asn832Ile)
c.2027A>T (p.Asn676Ile)
Xg.41523955T>CCA412989063CASKc.2549A>G (p.Asn850Ser)
c.2546A>G (p.Asn849Ser)
c.2600A>G (p.Asn867Ser)
c.2498A>G (p.Asn833Ser)
c.2603A>G (p.Asn868Ser)
c.1220A>G (p.Asn407Ser)
c.2531A>G (p.Asn844Ser)
c.2462A>G (p.Asn821Ser)
n.1379A>G
n.759A>G
c.372A>G
c.2582A>G (p.Asn861Ser)
c.2513A>G (p.Asn838Ser)
c.2585A>G (p.Asn862Ser)
n.2831A>G
c.2687A>G (p.Asn896Ser)
c.1922A>G (p.Asn641Ser)
c.2516A>G (p.Asn839Ser)
c.2534A>G (p.Asn845Ser)
c.965A>G (p.Asn322Ser)
c.1376A>G (p.Asn459Ser)
c.2477A>G (p.Asn826Ser)
c.2564A>G (p.Asn855Ser)
c.2495A>G (p.Asn832Ser)
c.2027A>G (p.Asn676Ser)
 gnomAD v4
Xg.41523955T>GCA412989064CASKc.2549A>C (p.Asn850Thr)
c.2546A>C (p.Asn849Thr)
c.2600A>C (p.Asn867Thr)
c.2498A>C (p.Asn833Thr)
c.2603A>C (p.Asn868Thr)
c.1220A>C (p.Asn407Thr)
c.2531A>C (p.Asn844Thr)
c.2462A>C (p.Asn821Thr)
n.1379A>C
n.759A>C
c.372A>C
c.2582A>C (p.Asn861Thr)
c.2513A>C (p.Asn838Thr)
c.2585A>C (p.Asn862Thr)
n.2831A>C
c.2687A>C (p.Asn896Thr)
c.1922A>C (p.Asn641Thr)
c.2516A>C (p.Asn839Thr)
c.2534A>C (p.Asn845Thr)
c.965A>C (p.Asn322Thr)
c.1376A>C (p.Asn459Thr)
c.2477A>C (p.Asn826Thr)
c.2564A>C (p.Asn855Thr)
c.2495A>C (p.Asn832Thr)
c.2027A>C (p.Asn676Thr)
Xg.41523956T>ACA412989065CASKc.2548A>T (p.Asn850Tyr)
c.2545A>T (p.Asn849Tyr)
c.2599A>T (p.Asn867Tyr)
c.2497A>T (p.Asn833Tyr)
c.2602A>T (p.Asn868Tyr)
c.1219A>T (p.Asn407Tyr)
c.2530A>T (p.Asn844Tyr)
c.2461A>T (p.Asn821Tyr)
n.1378A>T
n.758A>T
c.371A>T
c.2581A>T (p.Asn861Tyr)
c.2512A>T (p.Asn838Tyr)
c.2584A>T (p.Asn862Tyr)
n.2830A>T
c.2686A>T (p.Asn896Tyr)
c.1921A>T (p.Asn641Tyr)
c.2515A>T (p.Asn839Tyr)
c.2533A>T (p.Asn845Tyr)
c.964A>T (p.Asn322Tyr)
c.1375A>T (p.Asn459Tyr)
c.2476A>T (p.Asn826Tyr)
c.2563A>T (p.Asn855Tyr)
c.2494A>T (p.Asn832Tyr)
c.2026A>T (p.Asn676Tyr)
Xg.41523956T>CCA412989066CASKc.2548A>G (p.Asn850Asp)
c.2545A>G (p.Asn849Asp)
c.2599A>G (p.Asn867Asp)
c.2497A>G (p.Asn833Asp)
c.2602A>G (p.Asn868Asp)
c.1219A>G (p.Asn407Asp)
c.2530A>G (p.Asn844Asp)
c.2461A>G (p.Asn821Asp)
n.1378A>G
n.758A>G
c.371A>G
c.2581A>G (p.Asn861Asp)
c.2512A>G (p.Asn838Asp)
c.2584A>G (p.Asn862Asp)
n.2830A>G
c.2686A>G (p.Asn896Asp)
c.1921A>G (p.Asn641Asp)
c.2515A>G (p.Asn839Asp)
c.2533A>G (p.Asn845Asp)
c.964A>G (p.Asn322Asp)
c.1375A>G (p.Asn459Asp)
c.2476A>G (p.Asn826Asp)
c.2563A>G (p.Asn855Asp)
c.2494A>G (p.Asn832Asp)
c.2026A>G (p.Asn676Asp)
Xg.41523956T>GCA412989067CASKc.2548A>C (p.Asn850His)
c.2545A>C (p.Asn849His)
c.2599A>C (p.Asn867His)
c.2497A>C (p.Asn833His)
c.2602A>C (p.Asn868His)
c.1219A>C (p.Asn407His)
c.2530A>C (p.Asn844His)
c.2461A>C (p.Asn821His)
n.1378A>C
n.758A>C
c.371A>C
c.2581A>C (p.Asn861His)
c.2512A>C (p.Asn838His)
c.2584A>C (p.Asn862His)
n.2830A>C
c.2686A>C (p.Asn896His)
c.1921A>C (p.Asn641His)
c.2515A>C (p.Asn839His)
c.2533A>C (p.Asn845His)
c.964A>C (p.Asn322His)
c.1375A>C (p.Asn459His)
c.2476A>C (p.Asn826His)
c.2563A>C (p.Asn855His)
c.2494A>C (p.Asn832His)
c.2026A>C (p.Asn676His)
Xg.41523957T>ACA412989069CASKc.2547A>T (p.Leu849Phe)
c.2544A>T (p.Leu848Phe)
c.2598A>T (p.Leu866Phe)
c.2496A>T (p.Leu832Phe)
c.2601A>T (p.Leu867Phe)
c.1218A>T (p.Leu406Phe)
c.2529A>T (p.Leu843Phe)
c.2460A>T (p.Leu820Phe)
n.1377A>T
n.757A>T
c.370A>T
c.2580A>T (p.Leu860Phe)
c.2511A>T (p.Leu837Phe)
c.2583A>T (p.Leu861Phe)
n.2829A>T
c.2685A>T (p.Leu895Phe)
c.1920A>T (p.Leu640Phe)
c.2514A>T (p.Leu838Phe)
c.2532A>T (p.Leu844Phe)
c.963A>T (p.Leu321Phe)
c.1374A>T (p.Leu458Phe)
c.2475A>T (p.Leu825Phe)
c.2562A>T (p.Leu854Phe)
c.2493A>T (p.Leu831Phe)
c.2025A>T (p.Leu675Phe)
Xg.41523957T>CCA516098939CASKc.2547A>G (p.Leu849=)
c.2544A>G (p.Leu848=)
c.2598A>G (p.Leu866=)
c.2496A>G (p.Leu832=)
c.2601A>G (p.Leu867=)
c.1218A>G (p.Leu406=)
c.2529A>G (p.Leu843=)
c.2460A>G (p.Leu820=)
n.1377A>G
n.757A>G
c.370A>G
c.2580A>G (p.Leu860=)
c.2511A>G (p.Leu837=)
c.2583A>G (p.Leu861=)
n.2829A>G
c.2685A>G (p.Leu895=)
c.1920A>G (p.Leu640=)
c.2514A>G (p.Leu838=)
c.2532A>G (p.Leu844=)
c.963A>G (p.Leu321=)
c.1374A>G (p.Leu458=)
c.2475A>G (p.Leu825=)
c.2562A>G (p.Leu854=)
c.2493A>G (p.Leu831=)
c.2025A>G (p.Leu675=)
 gnomAD v4
Xg.41523957T>GCA412989068CASKc.2547A>C (p.Leu849Phe)
c.2544A>C (p.Leu848Phe)
c.2598A>C (p.Leu866Phe)
c.2496A>C (p.Leu832Phe)
c.2601A>C (p.Leu867Phe)
c.1218A>C (p.Leu406Phe)
c.2529A>C (p.Leu843Phe)
c.2460A>C (p.Leu820Phe)
n.1377A>C
n.757A>C
c.370A>C
c.2580A>C (p.Leu860Phe)
c.2511A>C (p.Leu837Phe)
c.2583A>C (p.Leu861Phe)
n.2829A>C
c.2685A>C (p.Leu895Phe)
c.1920A>C (p.Leu640Phe)
c.2514A>C (p.Leu838Phe)
c.2532A>C (p.Leu844Phe)
c.963A>C (p.Leu321Phe)
c.1374A>C (p.Leu458Phe)
c.2475A>C (p.Leu825Phe)
c.2562A>C (p.Leu854Phe)
c.2493A>C (p.Leu831Phe)
c.2025A>C (p.Leu675Phe)
Xg.41523958A>CCA412989070CASKc.2546T>G (p.Leu849Ter)
c.2543T>G (p.Leu848Ter)
c.2597T>G (p.Leu866Ter)
c.2495T>G (p.Leu832Ter)
c.2600T>G (p.Leu867Ter)
c.1217T>G (p.Leu406Ter)
c.2528T>G (p.Leu843Ter)
c.2459T>G (p.Leu820Ter)
n.1376T>G
n.756T>G
c.369T>G
c.2579T>G (p.Leu860Ter)
c.2510T>G (p.Leu837Ter)
c.2582T>G (p.Leu861Ter)
n.2828T>G
c.2684T>G (p.Leu895Ter)
c.1919T>G (p.Leu640Ter)
c.2513T>G (p.Leu838Ter)
c.2531T>G (p.Leu844Ter)
c.962T>G (p.Leu321Ter)
c.1373T>G (p.Leu458Ter)
c.2474T>G (p.Leu825Ter)
c.2561T>G (p.Leu854Ter)
c.2492T>G (p.Leu831Ter)
c.2024T>G (p.Leu675Ter)
Xg.41523958A>GCA412989071CASKc.2546T>C (p.Leu849Ser)
c.2543T>C (p.Leu848Ser)
c.2597T>C (p.Leu866Ser)
c.2495T>C (p.Leu832Ser)
c.2600T>C (p.Leu867Ser)
c.1217T>C (p.Leu406Ser)
c.2528T>C (p.Leu843Ser)
c.2459T>C (p.Leu820Ser)
n.1376T>C
n.756T>C
c.369T>C
c.2579T>C (p.Leu860Ser)
c.2510T>C (p.Leu837Ser)
c.2582T>C (p.Leu861Ser)
n.2828T>C
c.2684T>C (p.Leu895Ser)
c.1919T>C (p.Leu640Ser)
c.2513T>C (p.Leu838Ser)
c.2531T>C (p.Leu844Ser)
c.962T>C (p.Leu321Ser)
c.1373T>C (p.Leu458Ser)
c.2474T>C (p.Leu825Ser)
c.2561T>C (p.Leu854Ser)
c.2492T>C (p.Leu831Ser)
c.2024T>C (p.Leu675Ser)
Xg.41523958A>TCA412989072CASKc.2546T>A (p.Leu849Ter)
c.2543T>A (p.Leu848Ter)
c.2597T>A (p.Leu866Ter)
c.2495T>A (p.Leu832Ter)
c.2600T>A (p.Leu867Ter)
c.1217T>A (p.Leu406Ter)
c.2528T>A (p.Leu843Ter)
c.2459T>A (p.Leu820Ter)
n.1376T>A
n.756T>A
c.369T>A
c.2579T>A (p.Leu860Ter)
c.2510T>A (p.Leu837Ter)
c.2582T>A (p.Leu861Ter)
n.2828T>A
c.2684T>A (p.Leu895Ter)
c.1919T>A (p.Leu640Ter)
c.2513T>A (p.Leu838Ter)
c.2531T>A (p.Leu844Ter)
c.962T>A (p.Leu321Ter)
c.1373T>A (p.Leu458Ter)
c.2474T>A (p.Leu825Ter)
c.2561T>A (p.Leu854Ter)
c.2492T>A (p.Leu831Ter)
c.2024T>A (p.Leu675Ter)
Xg.41523959A>CCA412989073CASKc.2545T>G (p.Leu849Val)
c.2542T>G (p.Leu848Val)
c.2596T>G (p.Leu866Val)
c.2494T>G (p.Leu832Val)
c.2599T>G (p.Leu867Val)
c.1216T>G (p.Leu406Val)
c.2527T>G (p.Leu843Val)
c.2458T>G (p.Leu820Val)
n.1375T>G
n.755T>G
c.368T>G
c.2578T>G (p.Leu860Val)
c.2509T>G (p.Leu837Val)
c.2581T>G (p.Leu861Val)
n.2827T>G
c.2683T>G (p.Leu895Val)
c.1918T>G (p.Leu640Val)
c.2512T>G (p.Leu838Val)
c.2530T>G (p.Leu844Val)
c.961T>G (p.Leu321Val)
c.1372T>G (p.Leu458Val)
c.2473T>G (p.Leu825Val)
c.2560T>G (p.Leu854Val)
c.2491T>G (p.Leu831Val)
c.2023T>G (p.Leu675Val)
Xg.41523959A>GCA516098940CASKc.2545T>C (p.Leu849=)
c.2542T>C (p.Leu848=)
c.2596T>C (p.Leu866=)
c.2494T>C (p.Leu832=)
c.2599T>C (p.Leu867=)
c.1216T>C (p.Leu406=)
c.2527T>C (p.Leu843=)
c.2458T>C (p.Leu820=)
n.1375T>C
n.755T>C
c.368T>C
c.2578T>C (p.Leu860=)
c.2509T>C (p.Leu837=)
c.2581T>C (p.Leu861=)
n.2827T>C
c.2683T>C (p.Leu895=)
c.1918T>C (p.Leu640=)
c.2512T>C (p.Leu838=)
c.2530T>C (p.Leu844=)
c.961T>C (p.Leu321=)
c.1372T>C (p.Leu458=)
c.2473T>C (p.Leu825=)
c.2560T>C (p.Leu854=)
c.2491T>C (p.Leu831=)
c.2023T>C (p.Leu675=)
Xg.41523959A>TCA412989074CASKc.2545T>A (p.Leu849Ile)
c.2542T>A (p.Leu848Ile)
c.2596T>A (p.Leu866Ile)
c.2494T>A (p.Leu832Ile)
c.2599T>A (p.Leu867Ile)
c.1216T>A (p.Leu406Ile)
c.2527T>A (p.Leu843Ile)
c.2458T>A (p.Leu820Ile)
n.1375T>A
n.755T>A
c.368T>A
c.2578T>A (p.Leu860Ile)
c.2509T>A (p.Leu837Ile)
c.2581T>A (p.Leu861Ile)
n.2827T>A
c.2683T>A (p.Leu895Ile)
c.1918T>A (p.Leu640Ile)
c.2512T>A (p.Leu838Ile)
c.2530T>A (p.Leu844Ile)
c.961T>A (p.Leu321Ile)
c.1372T>A (p.Leu458Ile)
c.2473T>A (p.Leu825Ile)
c.2560T>A (p.Leu854Ile)
c.2491T>A (p.Leu831Ile)
c.2023T>A (p.Leu675Ile)
Xg.41523960A>CCA516098941CASKc.2544T>G (p.Gly848=)
c.2541T>G (p.Gly847=)
c.2595T>G (p.Gly865=)
c.2493T>G (p.Gly831=)
c.2598T>G (p.Gly866=)
c.1215T>G (p.Gly405=)
c.2526T>G (p.Gly842=)
c.2457T>G (p.Gly819=)
n.1374T>G
n.754T>G
c.367T>G
c.2577T>G (p.Gly859=)
c.2508T>G (p.Gly836=)
c.2580T>G (p.Gly860=)
n.2826T>G
c.2682T>G (p.Gly894=)
c.1917T>G (p.Gly639=)
c.2511T>G (p.Gly837=)
c.2529T>G (p.Gly843=)
c.960T>G (p.Gly320=)
c.1371T>G (p.Gly457=)
c.2472T>G (p.Gly824=)
c.2559T>G (p.Gly853=)
c.2490T>G (p.Gly830=)
c.2022T>G (p.Gly674=)
Xg.41523960A>GCA516098942CASKc.2544T>C (p.Gly848=)
c.2541T>C (p.Gly847=)
c.2595T>C (p.Gly865=)
c.2493T>C (p.Gly831=)
c.2598T>C (p.Gly866=)
c.1215T>C (p.Gly405=)
c.2526T>C (p.Gly842=)
c.2457T>C (p.Gly819=)
n.1374T>C
n.754T>C
c.367T>C
c.2577T>C (p.Gly859=)
c.2508T>C (p.Gly836=)
c.2580T>C (p.Gly860=)
n.2826T>C
c.2682T>C (p.Gly894=)
c.1917T>C (p.Gly639=)
c.2511T>C (p.Gly837=)
c.2529T>C (p.Gly843=)
c.960T>C (p.Gly320=)
c.1371T>C (p.Gly457=)
c.2472T>C (p.Gly824=)
c.2559T>C (p.Gly853=)
c.2490T>C (p.Gly830=)
c.2022T>C (p.Gly674=)
Xg.41523960A>TCA516098943CASKc.2544T>A (p.Gly848=)
c.2541T>A (p.Gly847=)
c.2595T>A (p.Gly865=)
c.2493T>A (p.Gly831=)
c.2598T>A (p.Gly866=)
c.1215T>A (p.Gly405=)
c.2526T>A (p.Gly842=)
c.2457T>A (p.Gly819=)
n.1374T>A
n.754T>A
c.367T>A
c.2577T>A (p.Gly859=)
c.2508T>A (p.Gly836=)
c.2580T>A (p.Gly860=)
n.2826T>A
c.2682T>A (p.Gly894=)
c.1917T>A (p.Gly639=)
c.2511T>A (p.Gly837=)
c.2529T>A (p.Gly843=)
c.960T>A (p.Gly320=)
c.1371T>A (p.Gly457=)
c.2472T>A (p.Gly824=)
c.2559T>A (p.Gly853=)
c.2490T>A (p.Gly830=)
c.2022T>A (p.Gly674=)
Xg.41523961C>ACA412989077CASKc.2543G>T (p.Gly848Val)
c.2540G>T (p.Gly847Val)
c.2594G>T (p.Gly865Val)
c.2492G>T (p.Gly831Val)
c.2597G>T (p.Gly866Val)
c.1214G>T (p.Gly405Val)
c.2525G>T (p.Gly842Val)
c.2456G>T (p.Gly819Val)
n.1373G>T
n.753G>T
c.366G>T
c.2576G>T (p.Gly859Val)
c.2507G>T (p.Gly836Val)
c.2579G>T (p.Gly860Val)
n.2825G>T
c.2681G>T (p.Gly894Val)
c.1916G>T (p.Gly639Val)
c.2510G>T (p.Gly837Val)
c.2528G>T (p.Gly843Val)
c.959G>T (p.Gly320Val)
c.1370G>T (p.Gly457Val)
c.2471G>T (p.Gly824Val)
c.2558G>T (p.Gly853Val)
c.2489G>T (p.Gly830Val)
c.2021G>T (p.Gly674Val)
Xg.41523961C=CA2425945438CASKc.2543G= (p.Gly848=)
c.2540G= (p.Gly847=)
c.2594G= (p.Gly865=)
c.2492G= (p.Gly831=)
c.2597G= (p.Gly866=)
c.1214G= (p.Gly405=)
c.2525G= (p.Gly842=)
c.2456G= (p.Gly819=)
n.1373G=
n.753G=
c.366G=
c.2576G= (p.Gly859=)
c.2507G= (p.Gly836=)
c.2579G= (p.Gly860=)
n.2825G=
c.2681G= (p.Gly894=)
c.1916G= (p.Gly639=)
c.2510G= (p.Gly837=)
c.2528G= (p.Gly843=)
c.959G= (p.Gly320=)
c.1370G= (p.Gly457=)
c.2471G= (p.Gly824=)
c.2558G= (p.Gly853=)
c.2489G= (p.Gly830=)
c.2021G= (p.Gly674=)
Xg.41523961C>GCA412989076CASKc.2543G>C (p.Gly848Ala)
c.2540G>C (p.Gly847Ala)
c.2594G>C (p.Gly865Ala)
c.2492G>C (p.Gly831Ala)
c.2597G>C (p.Gly866Ala)
c.1214G>C (p.Gly405Ala)
c.2525G>C (p.Gly842Ala)
c.2456G>C (p.Gly819Ala)
n.1373G>C
n.753G>C
c.366G>C
c.2576G>C (p.Gly859Ala)
c.2507G>C (p.Gly836Ala)
c.2579G>C (p.Gly860Ala)
n.2825G>C
c.2681G>C (p.Gly894Ala)
c.1916G>C (p.Gly639Ala)
c.2510G>C (p.Gly837Ala)
c.2528G>C (p.Gly843Ala)
c.959G>C (p.Gly320Ala)
c.1370G>C (p.Gly457Ala)
c.2471G>C (p.Gly824Ala)
c.2558G>C (p.Gly853Ala)
c.2489G>C (p.Gly830Ala)
c.2021G>C (p.Gly674Ala)
Xg.41523961C>TCA412989075CASKc.2543G>A (p.Gly848Asp)
c.2540G>A (p.Gly847Asp)
c.2594G>A (p.Gly865Asp)
c.2492G>A (p.Gly831Asp)
c.2597G>A (p.Gly866Asp)
c.1214G>A (p.Gly405Asp)
c.2525G>A (p.Gly842Asp)
c.2456G>A (p.Gly819Asp)
n.1373G>A
n.753G>A
c.366G>A
c.2576G>A (p.Gly859Asp)
c.2507G>A (p.Gly836Asp)
c.2579G>A (p.Gly860Asp)
n.2825G>A
c.2681G>A (p.Gly894Asp)
c.1916G>A (p.Gly639Asp)
c.2510G>A (p.Gly837Asp)
c.2528G>A (p.Gly843Asp)
c.959G>A (p.Gly320Asp)
c.1370G>A (p.Gly457Asp)
c.2471G>A (p.Gly824Asp)
c.2558G>A (p.Gly853Asp)
c.2489G>A (p.Gly830Asp)
c.2021G>A (p.Gly674Asp)
 dbSNP gnomAD v2 gnomAD v4
Xg.41523962C>ACA412989078CASKc.2542G>T (p.Gly848Cys)
c.2539G>T (p.Gly847Cys)
c.2593G>T (p.Gly865Cys)
c.2491G>T (p.Gly831Cys)
c.2596G>T (p.Gly866Cys)
c.1213G>T (p.Gly405Cys)
c.2524G>T (p.Gly842Cys)
c.2455G>T (p.Gly819Cys)
n.1372G>T
n.752G>T
c.365G>T
c.2575G>T (p.Gly859Cys)
c.2506G>T (p.Gly836Cys)
c.2578G>T (p.Gly860Cys)
n.2824G>T
c.2680G>T (p.Gly894Cys)
c.1915G>T (p.Gly639Cys)
c.2509G>T (p.Gly837Cys)
c.2527G>T (p.Gly843Cys)
c.958G>T (p.Gly320Cys)
c.1369G>T (p.Gly457Cys)
c.2470G>T (p.Gly824Cys)
c.2557G>T (p.Gly853Cys)
c.2488G>T (p.Gly830Cys)
c.2020G>T (p.Gly674Cys)
 COSMIC
Xg.41523962C>GCA412989079CASKc.2542G>C (p.Gly848Arg)
c.2539G>C (p.Gly847Arg)
c.2593G>C (p.Gly865Arg)
c.2491G>C (p.Gly831Arg)
c.2596G>C (p.Gly866Arg)
c.1213G>C (p.Gly405Arg)
c.2524G>C (p.Gly842Arg)
c.2455G>C (p.Gly819Arg)
n.1372G>C
n.752G>C
c.365G>C
c.2575G>C (p.Gly859Arg)
c.2506G>C (p.Gly836Arg)
c.2578G>C (p.Gly860Arg)
n.2824G>C
c.2680G>C (p.Gly894Arg)
c.1915G>C (p.Gly639Arg)
c.2509G>C (p.Gly837Arg)
c.2527G>C (p.Gly843Arg)
c.958G>C (p.Gly320Arg)
c.1369G>C (p.Gly457Arg)
c.2470G>C (p.Gly824Arg)
c.2557G>C (p.Gly853Arg)
c.2488G>C (p.Gly830Arg)
c.2020G>C (p.Gly674Arg)
 gnomAD v4
Xg.41523962C>TCA412989080CASKc.2542G>A (p.Gly848Ser)
c.2539G>A (p.Gly847Ser)
c.2593G>A (p.Gly865Ser)
c.2491G>A (p.Gly831Ser)
c.2596G>A (p.Gly866Ser)
c.1213G>A (p.Gly405Ser)
c.2524G>A (p.Gly842Ser)
c.2455G>A (p.Gly819Ser)
n.1372G>A
n.752G>A
c.365G>A
c.2575G>A (p.Gly859Ser)
c.2506G>A (p.Gly836Ser)
c.2578G>A (p.Gly860Ser)
n.2824G>A
c.2680G>A (p.Gly894Ser)
c.1915G>A (p.Gly639Ser)
c.2509G>A (p.Gly837Ser)
c.2527G>A (p.Gly843Ser)
c.958G>A (p.Gly320Ser)
c.1369G>A (p.Gly457Ser)
c.2470G>A (p.Gly824Ser)
c.2557G>A (p.Gly853Ser)
c.2488G>A (p.Gly830Ser)
c.2020G>A (p.Gly674Ser)
Xg.41523963T>ACA516098945CASKc.2541A>T (p.Pro847=)
c.2538A>T (p.Pro846=)
c.2592A>T (p.Pro864=)
c.2490A>T (p.Pro830=)
c.2595A>T (p.Pro865=)
c.1212A>T (p.Pro404=)
c.2523A>T (p.Pro841=)
c.2454A>T (p.Pro818=)
n.1371A>T
n.751A>T
c.364A>T
c.2574A>T (p.Pro858=)
c.2505A>T (p.Pro835=)
c.2577A>T (p.Pro859=)
n.2823A>T
c.2679A>T (p.Pro893=)
c.1914A>T (p.Pro638=)
c.2508A>T (p.Pro836=)
c.2526A>T (p.Pro842=)
c.957A>T (p.Pro319=)
c.1368A>T (p.Pro456=)
c.2469A>T (p.Pro823=)
c.2556A>T (p.Pro852=)
c.2487A>T (p.Pro829=)
c.2019A>T (p.Pro673=)
Xg.41523963T>CCA516098946CASKc.2541A>G (p.Pro847=)
c.2538A>G (p.Pro846=)
c.2592A>G (p.Pro864=)
c.2490A>G (p.Pro830=)
c.2595A>G (p.Pro865=)
c.1212A>G (p.Pro404=)
c.2523A>G (p.Pro841=)
c.2454A>G (p.Pro818=)
n.1371A>G
n.751A>G
c.364A>G
c.2574A>G (p.Pro858=)
c.2505A>G (p.Pro835=)
c.2577A>G (p.Pro859=)
n.2823A>G
c.2679A>G (p.Pro893=)
c.1914A>G (p.Pro638=)
c.2508A>G (p.Pro836=)
c.2526A>G (p.Pro842=)
c.957A>G (p.Pro319=)
c.1368A>G (p.Pro456=)
c.2469A>G (p.Pro823=)
c.2556A>G (p.Pro852=)
c.2487A>G (p.Pro829=)
c.2019A>G (p.Pro673=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41523963T>GCA516098947CASKc.2541A>C (p.Pro847=)
c.2538A>C (p.Pro846=)
c.2592A>C (p.Pro864=)
c.2490A>C (p.Pro830=)
c.2595A>C (p.Pro865=)
c.1212A>C (p.Pro404=)
c.2523A>C (p.Pro841=)
c.2454A>C (p.Pro818=)
n.1371A>C
n.751A>C
c.364A>C
c.2574A>C (p.Pro858=)
c.2505A>C (p.Pro835=)
c.2577A>C (p.Pro859=)
n.2823A>C
c.2679A>C (p.Pro893=)
c.1914A>C (p.Pro638=)
c.2508A>C (p.Pro836=)
c.2526A>C (p.Pro842=)
c.957A>C (p.Pro319=)
c.1368A>C (p.Pro456=)
c.2469A>C (p.Pro823=)
c.2556A>C (p.Pro852=)
c.2487A>C (p.Pro829=)
c.2019A>C (p.Pro673=)
Xg.41523963T=CA2425945439CASKc.2541A= (p.Pro847=)
c.2538A= (p.Pro846=)
c.2592A= (p.Pro864=)
c.2490A= (p.Pro830=)
c.2595A= (p.Pro865=)
c.1212A= (p.Pro404=)
c.2523A= (p.Pro841=)
c.2454A= (p.Pro818=)
n.1371A=
n.751A=
c.364A=
c.2574A= (p.Pro858=)
c.2505A= (p.Pro835=)
c.2577A= (p.Pro859=)
n.2823A=
c.2679A= (p.Pro893=)
c.1914A= (p.Pro638=)
c.2508A= (p.Pro836=)
c.2526A= (p.Pro842=)
c.957A= (p.Pro319=)
c.1368A= (p.Pro456=)
c.2469A= (p.Pro823=)
c.2556A= (p.Pro852=)
c.2487A= (p.Pro829=)
c.2019A= (p.Pro673=)
Xg.41523964G>ACA412989081CASKc.2540C>T (p.Pro847Leu)
c.2537C>T (p.Pro846Leu)
c.2591C>T (p.Pro864Leu)
c.2489C>T (p.Pro830Leu)
c.2594C>T (p.Pro865Leu)
c.1211C>T (p.Pro404Leu)
c.2522C>T (p.Pro841Leu)
c.2453C>T (p.Pro818Leu)
n.1370C>T
n.750C>T
c.363C>T
c.2573C>T (p.Pro858Leu)
c.2504C>T (p.Pro835Leu)
c.2576C>T (p.Pro859Leu)
n.2822C>T
c.2678C>T (p.Pro893Leu)
c.1913C>T (p.Pro638Leu)
c.2507C>T (p.Pro836Leu)
c.2525C>T (p.Pro842Leu)
c.956C>T (p.Pro319Leu)
c.1367C>T (p.Pro456Leu)
c.2468C>T (p.Pro823Leu)
c.2555C>T (p.Pro852Leu)
c.2486C>T (p.Pro829Leu)
c.2018C>T (p.Pro673Leu)
Xg.41523964G>CCA412989082CASKc.2540C>G (p.Pro847Arg)
c.2537C>G (p.Pro846Arg)
c.2591C>G (p.Pro864Arg)
c.2489C>G (p.Pro830Arg)
c.2594C>G (p.Pro865Arg)
c.1211C>G (p.Pro404Arg)
c.2522C>G (p.Pro841Arg)
c.2453C>G (p.Pro818Arg)
n.1370C>G
n.750C>G
c.363C>G
c.2573C>G (p.Pro858Arg)
c.2504C>G (p.Pro835Arg)
c.2576C>G (p.Pro859Arg)
n.2822C>G
c.2678C>G (p.Pro893Arg)
c.1913C>G (p.Pro638Arg)
c.2507C>G (p.Pro836Arg)
c.2525C>G (p.Pro842Arg)
c.956C>G (p.Pro319Arg)
c.1367C>G (p.Pro456Arg)
c.2468C>G (p.Pro823Arg)
c.2555C>G (p.Pro852Arg)
c.2486C>G (p.Pro829Arg)
c.2018C>G (p.Pro673Arg)
Xg.41523964G>TCA412989083CASKc.2540C>A (p.Pro847Gln)
c.2537C>A (p.Pro846Gln)
c.2591C>A (p.Pro864Gln)
c.2489C>A (p.Pro830Gln)
c.2594C>A (p.Pro865Gln)
c.1211C>A (p.Pro404Gln)
c.2522C>A (p.Pro841Gln)
c.2453C>A (p.Pro818Gln)
n.1370C>A
n.750C>A
c.363C>A
c.2573C>A (p.Pro858Gln)
c.2504C>A (p.Pro835Gln)
c.2576C>A (p.Pro859Gln)
n.2822C>A
c.2678C>A (p.Pro893Gln)
c.1913C>A (p.Pro638Gln)
c.2507C>A (p.Pro836Gln)
c.2525C>A (p.Pro842Gln)
c.956C>A (p.Pro319Gln)
c.1367C>A (p.Pro456Gln)
c.2468C>A (p.Pro823Gln)
c.2555C>A (p.Pro852Gln)
c.2486C>A (p.Pro829Gln)
c.2018C>A (p.Pro673Gln)
Xg.41523965delCA2579588815CASKc.2540del (p.Pro847GlnfsTer3)
c.2537del (p.Pro846GlnfsTer3)
c.2591del (p.Pro864GlnfsTer3)
c.2489del (p.Pro830GlnfsTer3)
c.2594del (p.Pro865GlnfsTer3)
c.1211del (p.Pro404GlnfsTer3)
c.2522del (p.Pro841GlnfsTer3)
c.2453del (p.Pro818GlnfsTer3)
n.1370del
n.750del
c.363del
c.2573del (p.Pro858GlnfsTer3)
c.2504del (p.Pro835GlnfsTer3)
c.2576del (p.Pro859GlnfsTer3)
n.2822del
c.2678del (p.Pro893GlnfsTer3)
c.1913del (p.Pro638GlnfsTer3)
c.2507del (p.Pro836GlnfsTer3)
c.2525del (p.Pro842GlnfsTer3)
c.956del (p.Pro319GlnfsTer3)
c.1367del (p.Pro456GlnfsTer3)
c.2468del (p.Pro823GlnfsTer3)
c.2555del (p.Pro852GlnfsTer3)
c.2486del (p.Pro829GlnfsTer3)
c.2018del (p.Pro673GlnfsTer3)
Xg.41523965G>ACA412989084CASKc.2539C>T (p.Pro847Ser)
c.2536C>T (p.Pro846Ser)
c.2590C>T (p.Pro864Ser)
c.2488C>T (p.Pro830Ser)
c.2593C>T (p.Pro865Ser)
c.1210C>T (p.Pro404Ser)
c.2521C>T (p.Pro841Ser)
c.2452C>T (p.Pro818Ser)
n.1369C>T
n.749C>T
c.362C>T
c.2572C>T (p.Pro858Ser)
c.2503C>T (p.Pro835Ser)
c.2575C>T (p.Pro859Ser)
n.2821C>T
c.2677C>T (p.Pro893Ser)
c.1912C>T (p.Pro638Ser)
c.2506C>T (p.Pro836Ser)
c.2524C>T (p.Pro842Ser)
c.955C>T (p.Pro319Ser)
c.1366C>T (p.Pro456Ser)
c.2467C>T (p.Pro823Ser)
c.2554C>T (p.Pro852Ser)
c.2485C>T (p.Pro829Ser)
c.2017C>T (p.Pro673Ser)
 gnomAD v4
Xg.41523965G>CCA412989086CASKc.2539C>G (p.Pro847Ala)
c.2536C>G (p.Pro846Ala)
c.2590C>G (p.Pro864Ala)
c.2488C>G (p.Pro830Ala)
c.2593C>G (p.Pro865Ala)
c.1210C>G (p.Pro404Ala)
c.2521C>G (p.Pro841Ala)
c.2452C>G (p.Pro818Ala)
n.1369C>G
n.749C>G
c.362C>G
c.2572C>G (p.Pro858Ala)
c.2503C>G (p.Pro835Ala)
c.2575C>G (p.Pro859Ala)
n.2821C>G
c.2677C>G (p.Pro893Ala)
c.1912C>G (p.Pro638Ala)
c.2506C>G (p.Pro836Ala)
c.2524C>G (p.Pro842Ala)
c.955C>G (p.Pro319Ala)
c.1366C>G (p.Pro456Ala)
c.2467C>G (p.Pro823Ala)
c.2554C>G (p.Pro852Ala)
c.2485C>G (p.Pro829Ala)
c.2017C>G (p.Pro673Ala)
Xg.41523965G=CA2425945440CASKc.2539C= (p.Pro847=)
c.2536C= (p.Pro846=)
c.2590C= (p.Pro864=)
c.2488C= (p.Pro830=)
c.2593C= (p.Pro865=)
c.1210C= (p.Pro404=)
c.2521C= (p.Pro841=)
c.2452C= (p.Pro818=)
n.1369C=
n.749C=
c.362C=
c.2572C= (p.Pro858=)
c.2503C= (p.Pro835=)
c.2575C= (p.Pro859=)
n.2821C=
c.2677C= (p.Pro893=)
c.1912C= (p.Pro638=)
c.2506C= (p.Pro836=)
c.2524C= (p.Pro842=)
c.955C= (p.Pro319=)
c.1366C= (p.Pro456=)
c.2467C= (p.Pro823=)
c.2554C= (p.Pro852=)
c.2485C= (p.Pro829=)
c.2017C= (p.Pro673=)
Xg.41523965G>TCA412989085CASKc.2539C>A (p.Pro847Thr)
c.2536C>A (p.Pro846Thr)
c.2590C>A (p.Pro864Thr)
c.2488C>A (p.Pro830Thr)
c.2593C>A (p.Pro865Thr)
c.1210C>A (p.Pro404Thr)
c.2521C>A (p.Pro841Thr)
c.2452C>A (p.Pro818Thr)
n.1369C>A
n.749C>A
c.362C>A
c.2572C>A (p.Pro858Thr)
c.2503C>A (p.Pro835Thr)
c.2575C>A (p.Pro859Thr)
n.2821C>A
c.2677C>A (p.Pro893Thr)
c.1912C>A (p.Pro638Thr)
c.2506C>A (p.Pro836Thr)
c.2524C>A (p.Pro842Thr)
c.955C>A (p.Pro319Thr)
c.1366C>A (p.Pro456Thr)
c.2467C>A (p.Pro823Thr)
c.2554C>A (p.Pro852Thr)
c.2485C>A (p.Pro829Thr)
c.2017C>A (p.Pro673Thr)
 gnomAD v4
Xg.41523966A=CA2425945441CASKc.2538T= (p.Thr846=)
c.2535T= (p.Thr845=)
c.2589T= (p.Thr863=)
c.2487T= (p.Thr829=)
c.2592T= (p.Thr864=)
c.1209T= (p.Thr403=)
c.2520T= (p.Thr840=)
c.2451T= (p.Thr817=)
n.1368T=
n.748T=
c.361T=
c.2571T= (p.Thr857=)
c.2502T= (p.Thr834=)
c.2574T= (p.Thr858=)
n.2820T=
c.2676T= (p.Thr892=)
c.1911T= (p.Thr637=)
c.2505T= (p.Thr835=)
c.2523T= (p.Thr841=)
c.954T= (p.Thr318=)
c.1365T= (p.Thr455=)
c.2466T= (p.Thr822=)
c.2553T= (p.Thr851=)
c.2484T= (p.Thr828=)
c.2016T= (p.Thr672=)
Xg.41523966A>CCA10389982CASKc.2538T>G (p.Thr846=)
c.2535T>G (p.Thr845=)
c.2589T>G (p.Thr863=)
c.2487T>G (p.Thr829=)
c.2592T>G (p.Thr864=)
c.1209T>G (p.Thr403=)
c.2520T>G (p.Thr840=)
c.2451T>G (p.Thr817=)
n.1368T>G
n.748T>G
c.361T>G
c.2571T>G (p.Thr857=)
c.2502T>G (p.Thr834=)
c.2574T>G (p.Thr858=)
n.2820T>G
c.2676T>G (p.Thr892=)
c.1911T>G (p.Thr637=)
c.2505T>G (p.Thr835=)
c.2523T>G (p.Thr841=)
c.954T>G (p.Thr318=)
c.1365T>G (p.Thr455=)
c.2466T>G (p.Thr822=)
c.2553T>G (p.Thr851=)
c.2484T>G (p.Thr828=)
c.2016T>G (p.Thr672=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41523966A>GCA516098951CASKc.2538T>C (p.Thr846=)
c.2535T>C (p.Thr845=)
c.2589T>C (p.Thr863=)
c.2487T>C (p.Thr829=)
c.2592T>C (p.Thr864=)
c.1209T>C (p.Thr403=)
c.2520T>C (p.Thr840=)
c.2451T>C (p.Thr817=)
n.1368T>C
n.748T>C
c.361T>C
c.2571T>C (p.Thr857=)
c.2502T>C (p.Thr834=)
c.2574T>C (p.Thr858=)
n.2820T>C
c.2676T>C (p.Thr892=)
c.1911T>C (p.Thr637=)
c.2505T>C (p.Thr835=)
c.2523T>C (p.Thr841=)
c.954T>C (p.Thr318=)
c.1365T>C (p.Thr455=)
c.2466T>C (p.Thr822=)
c.2553T>C (p.Thr851=)
c.2484T>C (p.Thr828=)
c.2016T>C (p.Thr672=)
Xg.41523966A>TCA10389981CASKc.2538T>A (p.Thr846=)
c.2535T>A (p.Thr845=)
c.2589T>A (p.Thr863=)
c.2487T>A (p.Thr829=)
c.2592T>A (p.Thr864=)
c.1209T>A (p.Thr403=)
c.2520T>A (p.Thr840=)
c.2451T>A (p.Thr817=)
n.1368T>A
n.748T>A
c.361T>A
c.2571T>A (p.Thr857=)
c.2502T>A (p.Thr834=)
c.2574T>A (p.Thr858=)
n.2820T>A
c.2676T>A (p.Thr892=)
c.1911T>A (p.Thr637=)
c.2505T>A (p.Thr835=)
c.2523T>A (p.Thr841=)
c.954T>A (p.Thr318=)
c.1365T>A (p.Thr455=)
c.2466T>A (p.Thr822=)
c.2553T>A (p.Thr851=)
c.2484T>A (p.Thr828=)
c.2016T>A (p.Thr672=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41523967_41523969dupCA920407106CASKc.2536_2538dup (p.Thr846_Pro847insThr)
c.2533_2535dup (p.Thr845_Pro846insThr)
c.2587_2589dup (p.Thr863_Pro864insThr)
c.2485_2487dup (p.Thr829_Pro830insThr)
c.2590_2592dup (p.Thr864_Pro865insThr)
c.1207_1209dup (p.Thr403_Pro404insThr)
c.2518_2520dup (p.Thr840_Pro841insThr)
c.2449_2451dup (p.Thr817_Pro818insThr)
n.1366_1368dup
n.746_748dup
c.359_361dup
c.2569_2571dup (p.Thr857_Pro858insThr)
c.2500_2502dup (p.Thr834_Pro835insThr)
c.2572_2574dup (p.Thr858_Pro859insThr)
n.2818_2820dup
c.2674_2676dup (p.Thr892_Pro893insThr)
c.1909_1911dup (p.Thr637_Pro638insThr)
c.2503_2505dup (p.Thr835_Pro836insThr)
c.2521_2523dup (p.Thr841_Pro842insThr)
c.952_954dup (p.Thr318_Pro319insThr)
c.1363_1365dup (p.Thr455_Pro456insThr)
c.2464_2466dup (p.Thr822_Pro823insThr)
c.2551_2553dup (p.Thr851_Pro852insThr)
c.2482_2484dup (p.Thr828_Pro829insThr)
c.2014_2016dup (p.Thr672_Pro673insThr)
 dbSNP
Xg.41523967G>ACA329227631CASKc.2537C>T (p.Thr846Ile)
c.2534C>T (p.Thr845Ile)
c.2588C>T (p.Thr863Ile)
c.2486C>T (p.Thr829Ile)
c.2591C>T (p.Thr864Ile)
c.1208C>T (p.Thr403Ile)
c.2519C>T (p.Thr840Ile)
c.2450C>T (p.Thr817Ile)
n.1367C>T
n.747C>T
c.360C>T
c.2570C>T (p.Thr857Ile)
c.2501C>T (p.Thr834Ile)
c.2573C>T (p.Thr858Ile)
n.2819C>T
c.2675C>T (p.Thr892Ile)
c.1910C>T (p.Thr637Ile)
c.2504C>T (p.Thr835Ile)
c.2522C>T (p.Thr841Ile)
c.953C>T (p.Thr318Ile)
c.1364C>T (p.Thr455Ile)
c.2465C>T (p.Thr822Ile)
c.2552C>T (p.Thr851Ile)
c.2483C>T (p.Thr828Ile)
c.2015C>T (p.Thr672Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41523967G>CCA412989087CASKc.2537C>G (p.Thr846Ser)
c.2534C>G (p.Thr845Ser)
c.2588C>G (p.Thr863Ser)
c.2486C>G (p.Thr829Ser)
c.2591C>G (p.Thr864Ser)
c.1208C>G (p.Thr403Ser)
c.2519C>G (p.Thr840Ser)
c.2450C>G (p.Thr817Ser)
n.1367C>G
n.747C>G
c.360C>G
c.2570C>G (p.Thr857Ser)
c.2501C>G (p.Thr834Ser)
c.2573C>G (p.Thr858Ser)
n.2819C>G
c.2675C>G (p.Thr892Ser)
c.1910C>G (p.Thr637Ser)
c.2504C>G (p.Thr835Ser)
c.2522C>G (p.Thr841Ser)
c.953C>G (p.Thr318Ser)
c.1364C>G (p.Thr455Ser)
c.2465C>G (p.Thr822Ser)
c.2552C>G (p.Thr851Ser)
c.2483C>G (p.Thr828Ser)
c.2015C>G (p.Thr672Ser)
Xg.41523967G=CA2425945442CASKc.2537C= (p.Thr846=)
c.2534C= (p.Thr845=)
c.2588C= (p.Thr863=)
c.2486C= (p.Thr829=)
c.2591C= (p.Thr864=)
c.1208C= (p.Thr403=)
c.2519C= (p.Thr840=)
c.2450C= (p.Thr817=)
n.1367C=
n.747C=
c.360C=
c.2570C= (p.Thr857=)
c.2501C= (p.Thr834=)
c.2573C= (p.Thr858=)
n.2819C=
c.2675C= (p.Thr892=)
c.1910C= (p.Thr637=)
c.2504C= (p.Thr835=)
c.2522C= (p.Thr841=)
c.953C= (p.Thr318=)
c.1364C= (p.Thr455=)
c.2465C= (p.Thr822=)
c.2552C= (p.Thr851=)
c.2483C= (p.Thr828=)
c.2015C= (p.Thr672=)
Xg.41523967G>TCA412989088CASKc.2537C>A (p.Thr846Asn)
c.2534C>A (p.Thr845Asn)
c.2588C>A (p.Thr863Asn)
c.2486C>A (p.Thr829Asn)
c.2591C>A (p.Thr864Asn)
c.1208C>A (p.Thr403Asn)
c.2519C>A (p.Thr840Asn)
c.2450C>A (p.Thr817Asn)
n.1367C>A
n.747C>A
c.360C>A
c.2570C>A (p.Thr857Asn)
c.2501C>A (p.Thr834Asn)
c.2573C>A (p.Thr858Asn)
n.2819C>A
c.2675C>A (p.Thr892Asn)
c.1910C>A (p.Thr637Asn)
c.2504C>A (p.Thr835Asn)
c.2522C>A (p.Thr841Asn)
c.953C>A (p.Thr318Asn)
c.1364C>A (p.Thr455Asn)
c.2465C>A (p.Thr822Asn)
c.2552C>A (p.Thr851Asn)
c.2483C>A (p.Thr828Asn)
c.2015C>A (p.Thr672Asn)
 gnomAD v4
Xg.41523968T>ACA412989089CASKc.2536A>T (p.Thr846Ser)
c.2533A>T (p.Thr845Ser)
c.2587A>T (p.Thr863Ser)
c.2485A>T (p.Thr829Ser)
c.2590A>T (p.Thr864Ser)
c.1207A>T (p.Thr403Ser)
c.2518A>T (p.Thr840Ser)
c.2449A>T (p.Thr817Ser)
n.1366A>T
n.746A>T
c.359A>T
c.2569A>T (p.Thr857Ser)
c.2500A>T (p.Thr834Ser)
c.2572A>T (p.Thr858Ser)
n.2818A>T
c.2674A>T (p.Thr892Ser)
c.1909A>T (p.Thr637Ser)
c.2503A>T (p.Thr835Ser)
c.2521A>T (p.Thr841Ser)
c.952A>T (p.Thr318Ser)
c.1363A>T (p.Thr455Ser)
c.2464A>T (p.Thr822Ser)
c.2551A>T (p.Thr851Ser)
c.2482A>T (p.Thr828Ser)
c.2014A>T (p.Thr672Ser)
Xg.41523968T>CCA412989090CASKc.2536A>G (p.Thr846Ala)
c.2533A>G (p.Thr845Ala)
c.2587A>G (p.Thr863Ala)
c.2485A>G (p.Thr829Ala)
c.2590A>G (p.Thr864Ala)
c.1207A>G (p.Thr403Ala)
c.2518A>G (p.Thr840Ala)
c.2449A>G (p.Thr817Ala)
n.1366A>G
n.746A>G
c.359A>G
c.2569A>G (p.Thr857Ala)
c.2500A>G (p.Thr834Ala)
c.2572A>G (p.Thr858Ala)
n.2818A>G
c.2674A>G (p.Thr892Ala)
c.1909A>G (p.Thr637Ala)
c.2503A>G (p.Thr835Ala)
c.2521A>G (p.Thr841Ala)
c.952A>G (p.Thr318Ala)
c.1363A>G (p.Thr455Ala)
c.2464A>G (p.Thr822Ala)
c.2551A>G (p.Thr851Ala)
c.2482A>G (p.Thr828Ala)
c.2014A>G (p.Thr672Ala)
 COSMIC
Xg.41523968T>GCA412989091CASKc.2536A>C (p.Thr846Pro)
c.2533A>C (p.Thr845Pro)
c.2587A>C (p.Thr863Pro)
c.2485A>C (p.Thr829Pro)
c.2590A>C (p.Thr864Pro)
c.1207A>C (p.Thr403Pro)
c.2518A>C (p.Thr840Pro)
c.2449A>C (p.Thr817Pro)
n.1366A>C
n.746A>C
c.359A>C
c.2569A>C (p.Thr857Pro)
c.2500A>C (p.Thr834Pro)
c.2572A>C (p.Thr858Pro)
n.2818A>C
c.2674A>C (p.Thr892Pro)
c.1909A>C (p.Thr637Pro)
c.2503A>C (p.Thr835Pro)
c.2521A>C (p.Thr841Pro)
c.952A>C (p.Thr318Pro)
c.1363A>C (p.Thr455Pro)
c.2464A>C (p.Thr822Pro)
c.2551A>C (p.Thr851Pro)
c.2482A>C (p.Thr828Pro)
c.2014A>C (p.Thr672Pro)
Xg.41523969A>CCA412989092CASKc.2535T>G (p.Ile845Met)
c.2532T>G (p.Ile844Met)
c.2586T>G (p.Ile862Met)
c.2484T>G (p.Ile828Met)
c.2589T>G (p.Ile863Met)
c.1206T>G (p.Ile402Met)
c.2517T>G (p.Ile839Met)
c.2448T>G (p.Ile816Met)
n.1365T>G
n.745T>G
c.358T>G
c.2568T>G (p.Ile856Met)
c.2499T>G (p.Ile833Met)
c.2571T>G (p.Ile857Met)
n.2817T>G
c.2673T>G (p.Ile891Met)
c.1908T>G (p.Ile636Met)
c.2502T>G (p.Ile834Met)
c.2520T>G (p.Ile840Met)
c.951T>G (p.Ile317Met)
c.1362T>G (p.Ile454Met)
c.2463T>G (p.Ile821Met)
c.2550T>G (p.Ile850Met)
c.2481T>G (p.Ile827Met)
c.2013T>G (p.Ile671Met)
Xg.41523969A>GCA516098954CASKc.2535T>C (p.Ile845=)
c.2532T>C (p.Ile844=)
c.2586T>C (p.Ile862=)
c.2484T>C (p.Ile828=)
c.2589T>C (p.Ile863=)
c.1206T>C (p.Ile402=)
c.2517T>C (p.Ile839=)
c.2448T>C (p.Ile816=)
n.1365T>C
n.745T>C
c.358T>C
c.2568T>C (p.Ile856=)
c.2499T>C (p.Ile833=)
c.2571T>C (p.Ile857=)
n.2817T>C
c.2673T>C (p.Ile891=)
c.1908T>C (p.Ile636=)
c.2502T>C (p.Ile834=)
c.2520T>C (p.Ile840=)
c.951T>C (p.Ile317=)
c.1362T>C (p.Ile454=)
c.2463T>C (p.Ile821=)
c.2550T>C (p.Ile850=)
c.2481T>C (p.Ile827=)
c.2013T>C (p.Ile671=)
 gnomAD v4
Xg.41523969A>TCA516098953CASKc.2535T>A (p.Ile845=)
c.2532T>A (p.Ile844=)
c.2586T>A (p.Ile862=)
c.2484T>A (p.Ile828=)
c.2589T>A (p.Ile863=)
c.1206T>A (p.Ile402=)
c.2517T>A (p.Ile839=)
c.2448T>A (p.Ile816=)
n.1365T>A
n.745T>A
c.358T>A
c.2568T>A (p.Ile856=)
c.2499T>A (p.Ile833=)
c.2571T>A (p.Ile857=)
n.2817T>A
c.2673T>A (p.Ile891=)
c.1908T>A (p.Ile636=)
c.2502T>A (p.Ile834=)
c.2520T>A (p.Ile840=)
c.951T>A (p.Ile317=)
c.1362T>A (p.Ile454=)
c.2463T>A (p.Ile821=)
c.2550T>A (p.Ile850=)
c.2481T>A (p.Ile827=)
c.2013T>A (p.Ile671=)
Xg.41523970delCA2579588816CASKc.2535del (p.Thr846LeufsTer4)
c.2532del (p.Thr845LeufsTer4)
c.2586del (p.Thr863LeufsTer4)
c.2484del (p.Thr829LeufsTer4)
c.2589del (p.Thr864LeufsTer4)
c.1206del (p.Thr403LeufsTer4)
c.2517del (p.Thr840LeufsTer4)
c.2448del (p.Thr817LeufsTer4)
n.1365del
n.745del
c.358del
c.2568del (p.Thr857LeufsTer4)
c.2499del (p.Thr834LeufsTer4)
c.2571del (p.Thr858LeufsTer4)
n.2817del
c.2673del (p.Thr892LeufsTer4)
c.1908del (p.Thr637LeufsTer4)
c.2502del (p.Thr835LeufsTer4)
c.2520del (p.Thr841LeufsTer4)
c.951del (p.Thr318LeufsTer4)
c.1362del (p.Thr455LeufsTer4)
c.2463del (p.Thr822LeufsTer4)
c.2550del (p.Thr851LeufsTer4)
c.2481del (p.Thr828LeufsTer4)
c.2013del (p.Thr672LeufsTer4)
Xg.41523970A>CCA412989093CASKc.2534T>G (p.Ile845Ser)
c.2531T>G (p.Ile844Ser)
c.2585T>G (p.Ile862Ser)
c.2483T>G (p.Ile828Ser)
c.2588T>G (p.Ile863Ser)
c.1205T>G (p.Ile402Ser)
c.2516T>G (p.Ile839Ser)
c.2447T>G (p.Ile816Ser)
n.1364T>G
n.744T>G
c.357T>G
c.2567T>G (p.Ile856Ser)
c.2498T>G (p.Ile833Ser)
c.2570T>G (p.Ile857Ser)
n.2816T>G
c.2672T>G (p.Ile891Ser)
c.1907T>G (p.Ile636Ser)
c.2501T>G (p.Ile834Ser)
c.2519T>G (p.Ile840Ser)
c.950T>G (p.Ile317Ser)
c.1361T>G (p.Ile454Ser)
c.2462T>G (p.Ile821Ser)
c.2549T>G (p.Ile850Ser)
c.2480T>G (p.Ile827Ser)
c.2012T>G (p.Ile671Ser)
Xg.41523970A>GCA412989094CASKc.2534T>C (p.Ile845Thr)
c.2531T>C (p.Ile844Thr)
c.2585T>C (p.Ile862Thr)
c.2483T>C (p.Ile828Thr)
c.2588T>C (p.Ile863Thr)
c.1205T>C (p.Ile402Thr)
c.2516T>C (p.Ile839Thr)
c.2447T>C (p.Ile816Thr)
n.1364T>C
n.744T>C
c.357T>C
c.2567T>C (p.Ile856Thr)
c.2498T>C (p.Ile833Thr)
c.2570T>C (p.Ile857Thr)
n.2816T>C
c.2672T>C (p.Ile891Thr)
c.1907T>C (p.Ile636Thr)
c.2501T>C (p.Ile834Thr)
c.2519T>C (p.Ile840Thr)
c.950T>C (p.Ile317Thr)
c.1361T>C (p.Ile454Thr)
c.2462T>C (p.Ile821Thr)
c.2549T>C (p.Ile850Thr)
c.2480T>C (p.Ile827Thr)
c.2012T>C (p.Ile671Thr)
Xg.41523970A>TCA412989095CASKc.2534T>A (p.Ile845Asn)
c.2531T>A (p.Ile844Asn)
c.2585T>A (p.Ile862Asn)
c.2483T>A (p.Ile828Asn)
c.2588T>A (p.Ile863Asn)
c.1205T>A (p.Ile402Asn)
c.2516T>A (p.Ile839Asn)
c.2447T>A (p.Ile816Asn)
n.1364T>A
n.744T>A
c.357T>A
c.2567T>A (p.Ile856Asn)
c.2498T>A (p.Ile833Asn)
c.2570T>A (p.Ile857Asn)
n.2816T>A
c.2672T>A (p.Ile891Asn)
c.1907T>A (p.Ile636Asn)
c.2501T>A (p.Ile834Asn)
c.2519T>A (p.Ile840Asn)
c.950T>A (p.Ile317Asn)
c.1361T>A (p.Ile454Asn)
c.2462T>A (p.Ile821Asn)
c.2549T>A (p.Ile850Asn)
c.2480T>A (p.Ile827Asn)
c.2012T>A (p.Ile671Asn)
Xg.41523971T>ACA412989097CASKc.2533A>T (p.Ile845Phe)
c.2530A>T (p.Ile844Phe)
c.2584A>T (p.Ile862Phe)
c.2482A>T (p.Ile828Phe)
c.2587A>T (p.Ile863Phe)
c.1204A>T (p.Ile402Phe)
c.2515A>T (p.Ile839Phe)
c.2446A>T (p.Ile816Phe)
n.1363A>T
n.743A>T
c.356A>T
c.2566A>T (p.Ile856Phe)
c.2497A>T (p.Ile833Phe)
c.2569A>T (p.Ile857Phe)
n.2815A>T
c.2671A>T (p.Ile891Phe)
c.1906A>T (p.Ile636Phe)
c.2500A>T (p.Ile834Phe)
c.2518A>T (p.Ile840Phe)
c.949A>T (p.Ile317Phe)
c.1360A>T (p.Ile454Phe)
c.2461A>T (p.Ile821Phe)
c.2548A>T (p.Ile850Phe)
c.2479A>T (p.Ile827Phe)
c.2011A>T (p.Ile671Phe)
Xg.41523971T>CCA412989098CASKc.2533A>G (p.Ile845Val)
c.2530A>G (p.Ile844Val)
c.2584A>G (p.Ile862Val)
c.2482A>G (p.Ile828Val)
c.2587A>G (p.Ile863Val)
c.1204A>G (p.Ile402Val)
c.2515A>G (p.Ile839Val)
c.2446A>G (p.Ile816Val)
n.1363A>G
n.743A>G
c.356A>G
c.2566A>G (p.Ile856Val)
c.2497A>G (p.Ile833Val)
c.2569A>G (p.Ile857Val)
n.2815A>G
c.2671A>G (p.Ile891Val)
c.1906A>G (p.Ile636Val)
c.2500A>G (p.Ile834Val)
c.2518A>G (p.Ile840Val)
c.949A>G (p.Ile317Val)
c.1360A>G (p.Ile454Val)
c.2461A>G (p.Ile821Val)
c.2548A>G (p.Ile850Val)
c.2479A>G (p.Ile827Val)
c.2011A>G (p.Ile671Val)
Xg.41523971T>GCA412989096CASKc.2533A>C (p.Ile845Leu)
c.2530A>C (p.Ile844Leu)
c.2584A>C (p.Ile862Leu)
c.2482A>C (p.Ile828Leu)
c.2587A>C (p.Ile863Leu)
c.1204A>C (p.Ile402Leu)
c.2515A>C (p.Ile839Leu)
c.2446A>C (p.Ile816Leu)
n.1363A>C
n.743A>C
c.356A>C
c.2566A>C (p.Ile856Leu)
c.2497A>C (p.Ile833Leu)
c.2569A>C (p.Ile857Leu)
n.2815A>C
c.2671A>C (p.Ile891Leu)
c.1906A>C (p.Ile636Leu)
c.2500A>C (p.Ile834Leu)
c.2518A>C (p.Ile840Leu)
c.949A>C (p.Ile317Leu)
c.1360A>C (p.Ile454Leu)
c.2461A>C (p.Ile821Leu)
c.2548A>C (p.Ile850Leu)
c.2479A>C (p.Ile827Leu)
c.2011A>C (p.Ile671Leu)
Xg.41523972A>CCA516098957CASKc.2532T>G (p.Thr844=)
c.2529T>G (p.Thr843=)
c.2583T>G (p.Thr861=)
c.2481T>G (p.Thr827=)
c.2586T>G (p.Thr862=)
c.1203T>G (p.Thr401=)
c.2514T>G (p.Thr838=)
c.2445T>G (p.Thr815=)
n.1362T>G
n.742T>G
c.355T>G
c.2565T>G (p.Thr855=)
c.2496T>G (p.Thr832=)
c.2568T>G (p.Thr856=)
n.2814T>G
c.2670T>G (p.Thr890=)
c.1905T>G (p.Thr635=)
c.2499T>G (p.Thr833=)
c.2517T>G (p.Thr839=)
c.948T>G (p.Thr316=)
c.1359T>G (p.Thr453=)
c.2460T>G (p.Thr820=)
c.2547T>G (p.Thr849=)
c.2478T>G (p.Thr826=)
c.2010T>G (p.Thr670=)
Xg.41523972A>GCA516098959CASKc.2532T>C (p.Thr844=)
c.2529T>C (p.Thr843=)
c.2583T>C (p.Thr861=)
c.2481T>C (p.Thr827=)
c.2586T>C (p.Thr862=)
c.1203T>C (p.Thr401=)
c.2514T>C (p.Thr838=)
c.2445T>C (p.Thr815=)
n.1362T>C
n.742T>C
c.355T>C
c.2565T>C (p.Thr855=)
c.2496T>C (p.Thr832=)
c.2568T>C (p.Thr856=)
n.2814T>C
c.2670T>C (p.Thr890=)
c.1905T>C (p.Thr635=)
c.2499T>C (p.Thr833=)
c.2517T>C (p.Thr839=)
c.948T>C (p.Thr316=)
c.1359T>C (p.Thr453=)
c.2460T>C (p.Thr820=)
c.2547T>C (p.Thr849=)
c.2478T>C (p.Thr826=)
c.2010T>C (p.Thr670=)
Xg.41523972A>TCA516098958CASKc.2532T>A (p.Thr844=)
c.2529T>A (p.Thr843=)
c.2583T>A (p.Thr861=)
c.2481T>A (p.Thr827=)
c.2586T>A (p.Thr862=)
c.1203T>A (p.Thr401=)
c.2514T>A (p.Thr838=)
c.2445T>A (p.Thr815=)
n.1362T>A
n.742T>A
c.355T>A
c.2565T>A (p.Thr855=)
c.2496T>A (p.Thr832=)
c.2568T>A (p.Thr856=)
n.2814T>A
c.2670T>A (p.Thr890=)
c.1905T>A (p.Thr635=)
c.2499T>A (p.Thr833=)
c.2517T>A (p.Thr839=)
c.948T>A (p.Thr316=)
c.1359T>A (p.Thr453=)
c.2460T>A (p.Thr820=)
c.2547T>A (p.Thr849=)
c.2478T>A (p.Thr826=)
c.2010T>A (p.Thr670=)
 gnomAD v4
Xg.41523973G>ACA412989100CASKc.2531C>T (p.Thr844Ile)
c.2528C>T (p.Thr843Ile)
c.2582C>T (p.Thr861Ile)
c.2480C>T (p.Thr827Ile)
c.2585C>T (p.Thr862Ile)
c.1202C>T (p.Thr401Ile)
c.2513C>T (p.Thr838Ile)
c.2444C>T (p.Thr815Ile)
n.1361C>T
n.741C>T
c.354C>T
c.2564C>T (p.Thr855Ile)
c.2495C>T (p.Thr832Ile)
c.2567C>T (p.Thr856Ile)
n.2813C>T
c.2669C>T (p.Thr890Ile)
c.1904C>T (p.Thr635Ile)
c.2498C>T (p.Thr833Ile)
c.2516C>T (p.Thr839Ile)
c.947C>T (p.Thr316Ile)
c.1358C>T (p.Thr453Ile)
c.2459C>T (p.Thr820Ile)
c.2546C>T (p.Thr849Ile)
c.2477C>T (p.Thr826Ile)
c.2009C>T (p.Thr670Ile)
Xg.41523973G>CCA412989099CASKc.2531C>G (p.Thr844Ser)
c.2528C>G (p.Thr843Ser)
c.2582C>G (p.Thr861Ser)
c.2480C>G (p.Thr827Ser)
c.2585C>G (p.Thr862Ser)
c.1202C>G (p.Thr401Ser)
c.2513C>G (p.Thr838Ser)
c.2444C>G (p.Thr815Ser)
n.1361C>G
n.741C>G
c.354C>G
c.2564C>G (p.Thr855Ser)
c.2495C>G (p.Thr832Ser)
c.2567C>G (p.Thr856Ser)
n.2813C>G
c.2669C>G (p.Thr890Ser)
c.1904C>G (p.Thr635Ser)
c.2498C>G (p.Thr833Ser)
c.2516C>G (p.Thr839Ser)
c.947C>G (p.Thr316Ser)
c.1358C>G (p.Thr453Ser)
c.2459C>G (p.Thr820Ser)
c.2546C>G (p.Thr849Ser)
c.2477C>G (p.Thr826Ser)
c.2009C>G (p.Thr670Ser)
Xg.41523973G>TCA412989101CASKc.2531C>A (p.Thr844Asn)
c.2528C>A (p.Thr843Asn)
c.2582C>A (p.Thr861Asn)
c.2480C>A (p.Thr827Asn)
c.2585C>A (p.Thr862Asn)
c.1202C>A (p.Thr401Asn)
c.2513C>A (p.Thr838Asn)
c.2444C>A (p.Thr815Asn)
n.1361C>A
n.741C>A
c.354C>A
c.2564C>A (p.Thr855Asn)
c.2495C>A (p.Thr832Asn)
c.2567C>A (p.Thr856Asn)
n.2813C>A
c.2669C>A (p.Thr890Asn)
c.1904C>A (p.Thr635Asn)
c.2498C>A (p.Thr833Asn)
c.2516C>A (p.Thr839Asn)
c.947C>A (p.Thr316Asn)
c.1358C>A (p.Thr453Asn)
c.2459C>A (p.Thr820Asn)
c.2546C>A (p.Thr849Asn)
c.2477C>A (p.Thr826Asn)
c.2009C>A (p.Thr670Asn)
Xg.41523974T>ACA412989102CASKc.2530A>T (p.Thr844Ser)
c.2527A>T (p.Thr843Ser)
c.2581A>T (p.Thr861Ser)
c.2479A>T (p.Thr827Ser)
c.2584A>T (p.Thr862Ser)
c.1201A>T (p.Thr401Ser)
c.2512A>T (p.Thr838Ser)
c.2443A>T (p.Thr815Ser)
n.1360A>T
n.740A>T
c.353A>T
c.2563A>T (p.Thr855Ser)
c.2494A>T (p.Thr832Ser)
c.2566A>T (p.Thr856Ser)
n.2812A>T
c.2668A>T (p.Thr890Ser)
c.1903A>T (p.Thr635Ser)
c.2497A>T (p.Thr833Ser)
c.2515A>T (p.Thr839Ser)
c.946A>T (p.Thr316Ser)
c.1357A>T (p.Thr453Ser)
c.2458A>T (p.Thr820Ser)
c.2545A>T (p.Thr849Ser)
c.2476A>T (p.Thr826Ser)
c.2008A>T (p.Thr670Ser)
Xg.41523974T>CCA412989103CASKc.2530A>G (p.Thr844Ala)
c.2527A>G (p.Thr843Ala)
c.2581A>G (p.Thr861Ala)
c.2479A>G (p.Thr827Ala)
c.2584A>G (p.Thr862Ala)
c.1201A>G (p.Thr401Ala)
c.2512A>G (p.Thr838Ala)
c.2443A>G (p.Thr815Ala)
n.1360A>G
n.740A>G
c.353A>G
c.2563A>G (p.Thr855Ala)
c.2494A>G (p.Thr832Ala)
c.2566A>G (p.Thr856Ala)
n.2812A>G
c.2668A>G (p.Thr890Ala)
c.1903A>G (p.Thr635Ala)
c.2497A>G (p.Thr833Ala)
c.2515A>G (p.Thr839Ala)
c.946A>G (p.Thr316Ala)
c.1357A>G (p.Thr453Ala)
c.2458A>G (p.Thr820Ala)
c.2545A>G (p.Thr849Ala)
c.2476A>G (p.Thr826Ala)
c.2008A>G (p.Thr670Ala)
 gnomAD v4
Xg.41523974T>GCA412989104CASKc.2530A>C (p.Thr844Pro)
c.2527A>C (p.Thr843Pro)
c.2581A>C (p.Thr861Pro)
c.2479A>C (p.Thr827Pro)
c.2584A>C (p.Thr862Pro)
c.1201A>C (p.Thr401Pro)
c.2512A>C (p.Thr838Pro)
c.2443A>C (p.Thr815Pro)
n.1360A>C
n.740A>C
c.353A>C
c.2563A>C (p.Thr855Pro)
c.2494A>C (p.Thr832Pro)
c.2566A>C (p.Thr856Pro)
n.2812A>C
c.2668A>C (p.Thr890Pro)
c.1903A>C (p.Thr635Pro)
c.2497A>C (p.Thr833Pro)
c.2515A>C (p.Thr839Pro)
c.946A>C (p.Thr316Pro)
c.1357A>C (p.Thr453Pro)
c.2458A>C (p.Thr820Pro)
c.2545A>C (p.Thr849Pro)
c.2476A>C (p.Thr826Pro)
c.2008A>C (p.Thr670Pro)
Xg.41523975T>ACA516098961CASKc.2529A>T (p.Pro843=)
c.2526A>T (p.Pro842=)
c.2580A>T (p.Pro860=)
c.2478A>T (p.Pro826=)
c.2583A>T (p.Pro861=)
c.1200A>T (p.Pro400=)
c.2511A>T (p.Pro837=)
c.2442A>T (p.Pro814=)
n.1359A>T
n.739A>T
c.352A>T
c.2562A>T (p.Pro854=)
c.2493A>T (p.Pro831=)
c.2565A>T (p.Pro855=)
n.2811A>T
c.2667A>T (p.Pro889=)
c.1902A>T (p.Pro634=)
c.2496A>T (p.Pro832=)
c.2514A>T (p.Pro838=)
c.945A>T (p.Pro315=)
c.1356A>T (p.Pro452=)
c.2457A>T (p.Pro819=)
c.2544A>T (p.Pro848=)
c.2475A>T (p.Pro825=)
c.2007A>T (p.Pro669=)
Xg.41523975T>CCA516098962CASKc.2529A>G (p.Pro843=)
c.2526A>G (p.Pro842=)
c.2580A>G (p.Pro860=)
c.2478A>G (p.Pro826=)
c.2583A>G (p.Pro861=)
c.1200A>G (p.Pro400=)
c.2511A>G (p.Pro837=)
c.2442A>G (p.Pro814=)
n.1359A>G
n.739A>G
c.352A>G
c.2562A>G (p.Pro854=)
c.2493A>G (p.Pro831=)
c.2565A>G (p.Pro855=)
n.2811A>G
c.2667A>G (p.Pro889=)
c.1902A>G (p.Pro634=)
c.2496A>G (p.Pro832=)
c.2514A>G (p.Pro838=)
c.945A>G (p.Pro315=)
c.1356A>G (p.Pro452=)
c.2457A>G (p.Pro819=)
c.2544A>G (p.Pro848=)
c.2475A>G (p.Pro825=)
c.2007A>G (p.Pro669=)
Xg.41523975T>GCA516098963CASKc.2529A>C (p.Pro843=)
c.2526A>C (p.Pro842=)
c.2580A>C (p.Pro860=)
c.2478A>C (p.Pro826=)
c.2583A>C (p.Pro861=)
c.1200A>C (p.Pro400=)
c.2511A>C (p.Pro837=)
c.2442A>C (p.Pro814=)
n.1359A>C
n.739A>C
c.352A>C
c.2562A>C (p.Pro854=)
c.2493A>C (p.Pro831=)
c.2565A>C (p.Pro855=)
n.2811A>C
c.2667A>C (p.Pro889=)
c.1902A>C (p.Pro634=)
c.2496A>C (p.Pro832=)
c.2514A>C (p.Pro838=)
c.945A>C (p.Pro315=)
c.1356A>C (p.Pro452=)
c.2457A>C (p.Pro819=)
c.2544A>C (p.Pro848=)
c.2475A>C (p.Pro825=)
c.2007A>C (p.Pro669=)
Xg.41523976G>ACA412989105CASKc.2528C>T (p.Pro843Leu)
c.2525C>T (p.Pro842Leu)
c.2579C>T (p.Pro860Leu)
c.2477C>T (p.Pro826Leu)
c.2582C>T (p.Pro861Leu)
c.1199C>T (p.Pro400Leu)
c.2510C>T (p.Pro837Leu)
c.2441C>T (p.Pro814Leu)
n.1358C>T
n.738C>T
c.351C>T
c.2561C>T (p.Pro854Leu)
c.2492C>T (p.Pro831Leu)
c.2564C>T (p.Pro855Leu)
n.2810C>T
c.2666C>T (p.Pro889Leu)
c.1901C>T (p.Pro634Leu)
c.2495C>T (p.Pro832Leu)
c.2513C>T (p.Pro838Leu)
c.944C>T (p.Pro315Leu)
c.1355C>T (p.Pro452Leu)
c.2456C>T (p.Pro819Leu)
c.2543C>T (p.Pro848Leu)
c.2474C>T (p.Pro825Leu)
c.2006C>T (p.Pro669Leu)
 gnomAD v4
Xg.41523976G>CCA412989106CASKc.2528C>G (p.Pro843Arg)
c.2525C>G (p.Pro842Arg)
c.2579C>G (p.Pro860Arg)
c.2477C>G (p.Pro826Arg)
c.2582C>G (p.Pro861Arg)
c.1199C>G (p.Pro400Arg)
c.2510C>G (p.Pro837Arg)
c.2441C>G (p.Pro814Arg)
n.1358C>G
n.738C>G
c.351C>G
c.2561C>G (p.Pro854Arg)
c.2492C>G (p.Pro831Arg)
c.2564C>G (p.Pro855Arg)
n.2810C>G
c.2666C>G (p.Pro889Arg)
c.1901C>G (p.Pro634Arg)
c.2495C>G (p.Pro832Arg)
c.2513C>G (p.Pro838Arg)
c.944C>G (p.Pro315Arg)
c.1355C>G (p.Pro452Arg)
c.2456C>G (p.Pro819Arg)
c.2543C>G (p.Pro848Arg)
c.2474C>G (p.Pro825Arg)
c.2006C>G (p.Pro669Arg)
Xg.41523976G>TCA412989107CASKc.2528C>A (p.Pro843Gln)
c.2525C>A (p.Pro842Gln)
c.2579C>A (p.Pro860Gln)
c.2477C>A (p.Pro826Gln)
c.2582C>A (p.Pro861Gln)
c.1199C>A (p.Pro400Gln)
c.2510C>A (p.Pro837Gln)
c.2441C>A (p.Pro814Gln)
n.1358C>A
n.738C>A
c.351C>A
c.2561C>A (p.Pro854Gln)
c.2492C>A (p.Pro831Gln)
c.2564C>A (p.Pro855Gln)
n.2810C>A
c.2666C>A (p.Pro889Gln)
c.1901C>A (p.Pro634Gln)
c.2495C>A (p.Pro832Gln)
c.2513C>A (p.Pro838Gln)
c.944C>A (p.Pro315Gln)
c.1355C>A (p.Pro452Gln)
c.2456C>A (p.Pro819Gln)
c.2543C>A (p.Pro848Gln)
c.2474C>A (p.Pro825Gln)
c.2006C>A (p.Pro669Gln)
 gnomAD v4
Xg.41523977G>ACA412989110CASKc.2527C>T (p.Pro843Ser)
c.2524C>T (p.Pro842Ser)
c.2578C>T (p.Pro860Ser)
c.2476C>T (p.Pro826Ser)
c.2581C>T (p.Pro861Ser)
c.1198C>T (p.Pro400Ser)
c.2509C>T (p.Pro837Ser)
c.2440C>T (p.Pro814Ser)
n.1357C>T
n.737C>T
c.350C>T
c.2560C>T (p.Pro854Ser)
c.2491C>T (p.Pro831Ser)
c.2563C>T (p.Pro855Ser)
n.2809C>T
c.2665C>T (p.Pro889Ser)
c.1900C>T (p.Pro634Ser)
c.2494C>T (p.Pro832Ser)
c.2512C>T (p.Pro838Ser)
c.943C>T (p.Pro315Ser)
c.1354C>T (p.Pro452Ser)
c.2455C>T (p.Pro819Ser)
c.2542C>T (p.Pro848Ser)
c.2473C>T (p.Pro825Ser)
c.2005C>T (p.Pro669Ser)
Xg.41523977G>CCA412989109CASKc.2527C>G (p.Pro843Ala)
c.2524C>G (p.Pro842Ala)
c.2578C>G (p.Pro860Ala)
c.2476C>G (p.Pro826Ala)
c.2581C>G (p.Pro861Ala)
c.1198C>G (p.Pro400Ala)
c.2509C>G (p.Pro837Ala)
c.2440C>G (p.Pro814Ala)
n.1357C>G
n.737C>G
c.350C>G
c.2560C>G (p.Pro854Ala)
c.2491C>G (p.Pro831Ala)
c.2563C>G (p.Pro855Ala)
n.2809C>G
c.2665C>G (p.Pro889Ala)
c.1900C>G (p.Pro634Ala)
c.2494C>G (p.Pro832Ala)
c.2512C>G (p.Pro838Ala)
c.943C>G (p.Pro315Ala)
c.1354C>G (p.Pro452Ala)
c.2455C>G (p.Pro819Ala)
c.2542C>G (p.Pro848Ala)
c.2473C>G (p.Pro825Ala)
c.2005C>G (p.Pro669Ala)
Xg.41523977G>TCA412989108CASKc.2527C>A (p.Pro843Thr)
c.2524C>A (p.Pro842Thr)
c.2578C>A (p.Pro860Thr)
c.2476C>A (p.Pro826Thr)
c.2581C>A (p.Pro861Thr)
c.1198C>A (p.Pro400Thr)
c.2509C>A (p.Pro837Thr)
c.2440C>A (p.Pro814Thr)
n.1357C>A
n.737C>A
c.350C>A
c.2560C>A (p.Pro854Thr)
c.2491C>A (p.Pro831Thr)
c.2563C>A (p.Pro855Thr)
n.2809C>A
c.2665C>A (p.Pro889Thr)
c.1900C>A (p.Pro634Thr)
c.2494C>A (p.Pro832Thr)
c.2512C>A (p.Pro838Thr)
c.943C>A (p.Pro315Thr)
c.1354C>A (p.Pro452Thr)
c.2455C>A (p.Pro819Thr)
c.2542C>A (p.Pro848Thr)
c.2473C>A (p.Pro825Thr)
c.2005C>A (p.Pro669Thr)
 gnomAD v4
Xg.41523978T>ACA516098964CASKc.2526A>T (p.Ala842=)
c.2523A>T (p.Ala841=)
c.2577A>T (p.Ala859=)
c.2475A>T (p.Ala825=)
c.2580A>T (p.Ala860=)
c.1197A>T (p.Ala399=)
c.2508A>T (p.Ala836=)
c.2439A>T (p.Ala813=)
n.1356A>T
n.736A>T
c.349A>T
c.2559A>T (p.Ala853=)
c.2490A>T (p.Ala830=)
c.2562A>T (p.Ala854=)
n.2808A>T
c.2664A>T (p.Ala888=)
c.1899A>T (p.Ala633=)
c.2493A>T (p.Ala831=)
c.2511A>T (p.Ala837=)
c.942A>T (p.Ala314=)
c.1353A>T (p.Ala451=)
c.2454A>T (p.Ala818=)
c.2541A>T (p.Ala847=)
c.2472A>T (p.Ala824=)
c.2004A>T (p.Ala668=)
Xg.41523978T>CCA516098965CASKc.2526A>G (p.Ala842=)
c.2523A>G (p.Ala841=)
c.2577A>G (p.Ala859=)
c.2475A>G (p.Ala825=)
c.2580A>G (p.Ala860=)
c.1197A>G (p.Ala399=)
c.2508A>G (p.Ala836=)
c.2439A>G (p.Ala813=)
n.1356A>G
n.736A>G
c.349A>G
c.2559A>G (p.Ala853=)
c.2490A>G (p.Ala830=)
c.2562A>G (p.Ala854=)
n.2808A>G
c.2664A>G (p.Ala888=)
c.1899A>G (p.Ala633=)
c.2493A>G (p.Ala831=)
c.2511A>G (p.Ala837=)
c.942A>G (p.Ala314=)
c.1353A>G (p.Ala451=)
c.2454A>G (p.Ala818=)
c.2541A>G (p.Ala847=)
c.2472A>G (p.Ala824=)
c.2004A>G (p.Ala668=)
Xg.41523978T>GCA516098966CASKc.2526A>C (p.Ala842=)
c.2523A>C (p.Ala841=)
c.2577A>C (p.Ala859=)
c.2475A>C (p.Ala825=)
c.2580A>C (p.Ala860=)
c.1197A>C (p.Ala399=)
c.2508A>C (p.Ala836=)
c.2439A>C (p.Ala813=)
n.1356A>C
n.736A>C
c.349A>C
c.2559A>C (p.Ala853=)
c.2490A>C (p.Ala830=)
c.2562A>C (p.Ala854=)
n.2808A>C
c.2664A>C (p.Ala888=)
c.1899A>C (p.Ala633=)
c.2493A>C (p.Ala831=)
c.2511A>C (p.Ala837=)
c.942A>C (p.Ala314=)
c.1353A>C (p.Ala451=)
c.2454A>C (p.Ala818=)
c.2541A>C (p.Ala847=)
c.2472A>C (p.Ala824=)
c.2004A>C (p.Ala668=)
Xg.41523979G>ACA412989111CASKc.2525C>T (p.Ala842Val)
c.2522C>T (p.Ala841Val)
c.2576C>T (p.Ala859Val)
c.2474C>T (p.Ala825Val)
c.2579C>T (p.Ala860Val)
c.1196C>T (p.Ala399Val)
c.2507C>T (p.Ala836Val)
c.2438C>T (p.Ala813Val)
n.1355C>T
n.735C>T
c.348C>T
c.2558C>T (p.Ala853Val)
c.2489C>T (p.Ala830Val)
c.2561C>T (p.Ala854Val)
n.2807C>T
c.2663C>T (p.Ala888Val)
c.1898C>T (p.Ala633Val)
c.2492C>T (p.Ala831Val)
c.2510C>T (p.Ala837Val)
c.941C>T (p.Ala314Val)
c.1352C>T (p.Ala451Val)
c.2453C>T (p.Ala818Val)
c.2540C>T (p.Ala847Val)
c.2471C>T (p.Ala824Val)
c.2003C>T (p.Ala668Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.41523979G>CCA412989112CASKc.2525C>G (p.Ala842Gly)
c.2522C>G (p.Ala841Gly)
c.2576C>G (p.Ala859Gly)
c.2474C>G (p.Ala825Gly)
c.2579C>G (p.Ala860Gly)
c.1196C>G (p.Ala399Gly)
c.2507C>G (p.Ala836Gly)
c.2438C>G (p.Ala813Gly)
n.1355C>G
n.735C>G
c.348C>G
c.2558C>G (p.Ala853Gly)
c.2489C>G (p.Ala830Gly)
c.2561C>G (p.Ala854Gly)
n.2807C>G
c.2663C>G (p.Ala888Gly)
c.1898C>G (p.Ala633Gly)
c.2492C>G (p.Ala831Gly)
c.2510C>G (p.Ala837Gly)
c.941C>G (p.Ala314Gly)
c.1352C>G (p.Ala451Gly)
c.2453C>G (p.Ala818Gly)
c.2540C>G (p.Ala847Gly)
c.2471C>G (p.Ala824Gly)
c.2003C>G (p.Ala668Gly)
Xg.41523979G=CA2425945443CASKc.2525C= (p.Ala842=)
c.2522C= (p.Ala841=)
c.2576C= (p.Ala859=)
c.2474C= (p.Ala825=)
c.2579C= (p.Ala860=)
c.1196C= (p.Ala399=)
c.2507C= (p.Ala836=)
c.2438C= (p.Ala813=)
n.1355C=
n.735C=
c.348C=
c.2558C= (p.Ala853=)
c.2489C= (p.Ala830=)
c.2561C= (p.Ala854=)
n.2807C=
c.2663C= (p.Ala888=)
c.1898C= (p.Ala633=)
c.2492C= (p.Ala831=)
c.2510C= (p.Ala837=)
c.941C= (p.Ala314=)
c.1352C= (p.Ala451=)
c.2453C= (p.Ala818=)
c.2540C= (p.Ala847=)
c.2471C= (p.Ala824=)
c.2003C= (p.Ala668=)
Xg.41523979G>TCA412989114CASKc.2525C>A (p.Ala842Glu)
c.2522C>A (p.Ala841Glu)
c.2576C>A (p.Ala859Glu)
c.2474C>A (p.Ala825Glu)
c.2579C>A (p.Ala860Glu)
c.1196C>A (p.Ala399Glu)
c.2507C>A (p.Ala836Glu)
c.2438C>A (p.Ala813Glu)
n.1355C>A
n.735C>A
c.348C>A
c.2558C>A (p.Ala853Glu)
c.2489C>A (p.Ala830Glu)
c.2561C>A (p.Ala854Glu)
n.2807C>A
c.2663C>A (p.Ala888Glu)
c.1898C>A (p.Ala633Glu)
c.2492C>A (p.Ala831Glu)
c.2510C>A (p.Ala837Glu)
c.941C>A (p.Ala314Glu)
c.1352C>A (p.Ala451Glu)
c.2453C>A (p.Ala818Glu)
c.2540C>A (p.Ala847Glu)
c.2471C>A (p.Ala824Glu)
c.2003C>A (p.Ala668Glu)
 gnomAD v4
Xg.41523980C>ACA412989116CASKc.2524G>T (p.Ala842Ser)
c.2521G>T (p.Ala841Ser)
c.2575G>T (p.Ala859Ser)
c.2473G>T (p.Ala825Ser)
c.2578G>T (p.Ala860Ser)
c.1195G>T (p.Ala399Ser)
c.2506G>T (p.Ala836Ser)
c.2437G>T (p.Ala813Ser)
n.1354G>T
n.734G>T
c.347G>T
c.2557G>T (p.Ala853Ser)
c.2488G>T (p.Ala830Ser)
c.2560G>T (p.Ala854Ser)
n.2806G>T
c.2662G>T (p.Ala888Ser)
c.1897G>T (p.Ala633Ser)
c.2491G>T (p.Ala831Ser)
c.2509G>T (p.Ala837Ser)
c.940G>T (p.Ala314Ser)
c.1351G>T (p.Ala451Ser)
c.2452G>T (p.Ala818Ser)
c.2539G>T (p.Ala847Ser)
c.2470G>T (p.Ala824Ser)
c.2002G>T (p.Ala668Ser)
Xg.41523980C>GCA412989117CASKc.2524G>C (p.Ala842Pro)
c.2521G>C (p.Ala841Pro)
c.2575G>C (p.Ala859Pro)
c.2473G>C (p.Ala825Pro)
c.2578G>C (p.Ala860Pro)
c.1195G>C (p.Ala399Pro)
c.2506G>C (p.Ala836Pro)
c.2437G>C (p.Ala813Pro)
n.1354G>C
n.734G>C
c.347G>C
c.2557G>C (p.Ala853Pro)
c.2488G>C (p.Ala830Pro)
c.2560G>C (p.Ala854Pro)
n.2806G>C
c.2662G>C (p.Ala888Pro)
c.1897G>C (p.Ala633Pro)
c.2491G>C (p.Ala831Pro)
c.2509G>C (p.Ala837Pro)
c.940G>C (p.Ala314Pro)
c.1351G>C (p.Ala451Pro)
c.2452G>C (p.Ala818Pro)
c.2539G>C (p.Ala847Pro)
c.2470G>C (p.Ala824Pro)
c.2002G>C (p.Ala668Pro)
Xg.41523980C>TCA412989119CASKc.2524G>A (p.Ala842Thr)
c.2521G>A (p.Ala841Thr)
c.2575G>A (p.Ala859Thr)
c.2473G>A (p.Ala825Thr)
c.2578G>A (p.Ala860Thr)
c.1195G>A (p.Ala399Thr)
c.2506G>A (p.Ala836Thr)
c.2437G>A (p.Ala813Thr)
n.1354G>A
n.734G>A
c.347G>A
c.2557G>A (p.Ala853Thr)
c.2488G>A (p.Ala830Thr)
c.2560G>A (p.Ala854Thr)
n.2806G>A
c.2662G>A (p.Ala888Thr)
c.1897G>A (p.Ala633Thr)
c.2491G>A (p.Ala831Thr)
c.2509G>A (p.Ala837Thr)
c.940G>A (p.Ala314Thr)
c.1351G>A (p.Ala451Thr)
c.2452G>A (p.Ala818Thr)
c.2539G>A (p.Ala847Thr)
c.2470G>A (p.Ala824Thr)
c.2002G>A (p.Ala668Thr)
 gnomAD v3 gnomAD v4
Xg.41523981A>CCA516098967CASKc.2523T>G (p.Ala841=)
c.2520T>G (p.Ala840=)
c.2574T>G (p.Ala858=)
c.2472T>G (p.Ala824=)
c.2577T>G (p.Ala859=)
c.1194T>G (p.Ala398=)
c.2505T>G (p.Ala835=)
c.2436T>G (p.Ala812=)
n.1353T>G
n.733T>G
c.346T>G
c.2556T>G (p.Ala852=)
c.2487T>G (p.Ala829=)
c.2559T>G (p.Ala853=)
n.2805T>G
c.2661T>G (p.Ala887=)
c.1896T>G (p.Ala632=)
c.2490T>G (p.Ala830=)
c.2508T>G (p.Ala836=)
c.939T>G (p.Ala313=)
c.1350T>G (p.Ala450=)
c.2451T>G (p.Ala817=)
c.2538T>G (p.Ala846=)
c.2469T>G (p.Ala823=)
c.2001T>G (p.Ala667=)
Xg.41523981A>GCA516098968CASKc.2523T>C (p.Ala841=)
c.2520T>C (p.Ala840=)
c.2574T>C (p.Ala858=)
c.2472T>C (p.Ala824=)
c.2577T>C (p.Ala859=)
c.1194T>C (p.Ala398=)
c.2505T>C (p.Ala835=)
c.2436T>C (p.Ala812=)
n.1353T>C
n.733T>C
c.346T>C
c.2556T>C (p.Ala852=)
c.2487T>C (p.Ala829=)
c.2559T>C (p.Ala853=)
n.2805T>C
c.2661T>C (p.Ala887=)
c.1896T>C (p.Ala632=)
c.2490T>C (p.Ala830=)
c.2508T>C (p.Ala836=)
c.939T>C (p.Ala313=)
c.1350T>C (p.Ala450=)
c.2451T>C (p.Ala817=)
c.2538T>C (p.Ala846=)
c.2469T>C (p.Ala823=)
c.2001T>C (p.Ala667=)
Xg.41523981A>TCA516098970CASKc.2523T>A (p.Ala841=)
c.2520T>A (p.Ala840=)
c.2574T>A (p.Ala858=)
c.2472T>A (p.Ala824=)
c.2577T>A (p.Ala859=)
c.1194T>A (p.Ala398=)
c.2505T>A (p.Ala835=)
c.2436T>A (p.Ala812=)
n.1353T>A
n.733T>A
c.346T>A
c.2556T>A (p.Ala852=)
c.2487T>A (p.Ala829=)
c.2559T>A (p.Ala853=)
n.2805T>A
c.2661T>A (p.Ala887=)
c.1896T>A (p.Ala632=)
c.2490T>A (p.Ala830=)
c.2508T>A (p.Ala836=)
c.939T>A (p.Ala313=)
c.1350T>A (p.Ala450=)
c.2451T>A (p.Ala817=)
c.2538T>A (p.Ala846=)
c.2469T>A (p.Ala823=)
c.2001T>A (p.Ala667=)
Xg.41523982G>ACA412989120CASKc.2522C>T (p.Ala841Val)
c.2519C>T (p.Ala840Val)
c.2573C>T (p.Ala858Val)
c.2471C>T (p.Ala824Val)
c.2576C>T (p.Ala859Val)
c.1193C>T (p.Ala398Val)
c.2504C>T (p.Ala835Val)
c.2435C>T (p.Ala812Val)
n.1352C>T
n.732C>T
c.345C>T
c.2555C>T (p.Ala852Val)
c.2486C>T (p.Ala829Val)
c.2558C>T (p.Ala853Val)
n.2804C>T
c.2660C>T (p.Ala887Val)
c.1895C>T (p.Ala632Val)
c.2489C>T (p.Ala830Val)
c.2507C>T (p.Ala836Val)
c.938C>T (p.Ala313Val)
c.1349C>T (p.Ala450Val)
c.2450C>T (p.Ala817Val)
c.2537C>T (p.Ala846Val)
c.2468C>T (p.Ala823Val)
c.2000C>T (p.Ala667Val)
 ClinVar gnomAD v4
Xg.41523982G>CCA412989123CASKc.2522C>G (p.Ala841Gly)
c.2519C>G (p.Ala840Gly)
c.2573C>G (p.Ala858Gly)
c.2471C>G (p.Ala824Gly)
c.2576C>G (p.Ala859Gly)
c.1193C>G (p.Ala398Gly)
c.2504C>G (p.Ala835Gly)
c.2435C>G (p.Ala812Gly)
n.1352C>G
n.732C>G
c.345C>G
c.2555C>G (p.Ala852Gly)
c.2486C>G (p.Ala829Gly)
c.2558C>G (p.Ala853Gly)
n.2804C>G
c.2660C>G (p.Ala887Gly)
c.1895C>G (p.Ala632Gly)
c.2489C>G (p.Ala830Gly)
c.2507C>G (p.Ala836Gly)
c.938C>G (p.Ala313Gly)
c.1349C>G (p.Ala450Gly)
c.2450C>G (p.Ala817Gly)
c.2537C>G (p.Ala846Gly)
c.2468C>G (p.Ala823Gly)
c.2000C>G (p.Ala667Gly)
Xg.41523982G>TCA412989122CASKc.2522C>A (p.Ala841Asp)
c.2519C>A (p.Ala840Asp)
c.2573C>A (p.Ala858Asp)
c.2471C>A (p.Ala824Asp)
c.2576C>A (p.Ala859Asp)
c.1193C>A (p.Ala398Asp)
c.2504C>A (p.Ala835Asp)
c.2435C>A (p.Ala812Asp)
n.1352C>A
n.732C>A
c.345C>A
c.2555C>A (p.Ala852Asp)
c.2486C>A (p.Ala829Asp)
c.2558C>A (p.Ala853Asp)
n.2804C>A
c.2660C>A (p.Ala887Asp)
c.1895C>A (p.Ala632Asp)
c.2489C>A (p.Ala830Asp)
c.2507C>A (p.Ala836Asp)
c.938C>A (p.Ala313Asp)
c.1349C>A (p.Ala450Asp)
c.2450C>A (p.Ala817Asp)
c.2537C>A (p.Ala846Asp)
c.2468C>A (p.Ala823Asp)
c.2000C>A (p.Ala667Asp)
 gnomAD v4
Xg.41523983C>ACA412989125CASKc.2521G>T (p.Ala841Ser)
c.2518G>T (p.Ala840Ser)
c.2572G>T (p.Ala858Ser)
c.2470G>T (p.Ala824Ser)
c.2575G>T (p.Ala859Ser)
c.1192G>T (p.Ala398Ser)
c.2503G>T (p.Ala835Ser)
c.2434G>T (p.Ala812Ser)
n.1351G>T
n.731G>T
c.344G>T
c.2554G>T (p.Ala852Ser)
c.2485G>T (p.Ala829Ser)
c.2557G>T (p.Ala853Ser)
n.2803G>T
c.2659G>T (p.Ala887Ser)
c.1894G>T (p.Ala632Ser)
c.2488G>T (p.Ala830Ser)
c.2506G>T (p.Ala836Ser)
c.937G>T (p.Ala313Ser)
c.1348G>T (p.Ala450Ser)
c.2449G>T (p.Ala817Ser)
c.2536G>T (p.Ala846Ser)
c.2467G>T (p.Ala823Ser)
c.1999G>T (p.Ala667Ser)
Xg.41523983C=CA2425945444CASKc.2521G= (p.Ala841=)
c.2518G= (p.Ala840=)
c.2572G= (p.Ala858=)
c.2470G= (p.Ala824=)
c.2575G= (p.Ala859=)
c.1192G= (p.Ala398=)
c.2503G= (p.Ala835=)
c.2434G= (p.Ala812=)
n.1351G=
n.731G=
c.344G=
c.2554G= (p.Ala852=)
c.2485G= (p.Ala829=)
c.2557G= (p.Ala853=)
n.2803G=
c.2659G= (p.Ala887=)
c.1894G= (p.Ala632=)
c.2488G= (p.Ala830=)
c.2506G= (p.Ala836=)
c.937G= (p.Ala313=)
c.1348G= (p.Ala450=)
c.2449G= (p.Ala817=)
c.2536G= (p.Ala846=)
c.2467G= (p.Ala823=)
c.1999G= (p.Ala667=)
Xg.41523983C>GCA412989127CASKc.2521G>C (p.Ala841Pro)
c.2518G>C (p.Ala840Pro)
c.2572G>C (p.Ala858Pro)
c.2470G>C (p.Ala824Pro)
c.2575G>C (p.Ala859Pro)
c.1192G>C (p.Ala398Pro)
c.2503G>C (p.Ala835Pro)
c.2434G>C (p.Ala812Pro)
n.1351G>C
n.731G>C
c.344G>C
c.2554G>C (p.Ala852Pro)
c.2485G>C (p.Ala829Pro)
c.2557G>C (p.Ala853Pro)
n.2803G>C
c.2659G>C (p.Ala887Pro)
c.1894G>C (p.Ala632Pro)
c.2488G>C (p.Ala830Pro)
c.2506G>C (p.Ala836Pro)
c.937G>C (p.Ala313Pro)
c.1348G>C (p.Ala450Pro)
c.2449G>C (p.Ala817Pro)
c.2536G>C (p.Ala846Pro)
c.2467G>C (p.Ala823Pro)
c.1999G>C (p.Ala667Pro)
Xg.41523983C>TCA329227632CASKc.2521G>A (p.Ala841Thr)
c.2518G>A (p.Ala840Thr)
c.2572G>A (p.Ala858Thr)
c.2470G>A (p.Ala824Thr)
c.2575G>A (p.Ala859Thr)
c.1192G>A (p.Ala398Thr)
c.2503G>A (p.Ala835Thr)
c.2434G>A (p.Ala812Thr)
n.1351G>A
n.731G>A
c.344G>A
c.2554G>A (p.Ala852Thr)
c.2485G>A (p.Ala829Thr)
c.2557G>A (p.Ala853Thr)
n.2803G>A
c.2659G>A (p.Ala887Thr)
c.1894G>A (p.Ala632Thr)
c.2488G>A (p.Ala830Thr)
c.2506G>A (p.Ala836Thr)
c.937G>A (p.Ala313Thr)
c.1348G>A (p.Ala450Thr)
c.2449G>A (p.Ala817Thr)
c.2536G>A (p.Ala846Thr)
c.2467G>A (p.Ala823Thr)
c.1999G>A (p.Ala667Thr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.41523984A>CCA412989129CASKc.2520T>G (p.Ile840Met)
c.2517T>G (p.Ile839Met)
c.2571T>G (p.Ile857Met)
c.2469T>G (p.Ile823Met)
c.2574T>G (p.Ile858Met)
c.1191T>G (p.Ile397Met)
c.2502T>G (p.Ile834Met)
c.2433T>G (p.Ile811Met)
n.1350T>G
n.730T>G
c.343T>G
c.2553T>G (p.Ile851Met)
c.2484T>G (p.Ile828Met)
c.2556T>G (p.Ile852Met)
n.2802T>G
c.2658T>G (p.Ile886Met)
c.1893T>G (p.Ile631Met)
c.2487T>G (p.Ile829Met)
c.2505T>G (p.Ile835Met)
c.936T>G (p.Ile312Met)
c.1347T>G (p.Ile449Met)
c.2448T>G (p.Ile816Met)
c.2535T>G (p.Ile845Met)
c.2466T>G (p.Ile822Met)
c.1998T>G (p.Ile666Met)
Xg.41523984A>GCA516098971CASKc.2520T>C (p.Ile840=)
c.2517T>C (p.Ile839=)
c.2571T>C (p.Ile857=)
c.2469T>C (p.Ile823=)
c.2574T>C (p.Ile858=)
c.1191T>C (p.Ile397=)
c.2502T>C (p.Ile834=)
c.2433T>C (p.Ile811=)
n.1350T>C
n.730T>C
c.343T>C
c.2553T>C (p.Ile851=)
c.2484T>C (p.Ile828=)
c.2556T>C (p.Ile852=)
n.2802T>C
c.2658T>C (p.Ile886=)
c.1893T>C (p.Ile631=)
c.2487T>C (p.Ile829=)
c.2505T>C (p.Ile835=)
c.936T>C (p.Ile312=)
c.1347T>C (p.Ile449=)
c.2448T>C (p.Ile816=)
c.2535T>C (p.Ile845=)
c.2466T>C (p.Ile822=)
c.1998T>C (p.Ile666=)
Xg.41523984A>TCA516098972CASKc.2520T>A (p.Ile840=)
c.2517T>A (p.Ile839=)
c.2571T>A (p.Ile857=)
c.2469T>A (p.Ile823=)
c.2574T>A (p.Ile858=)
c.1191T>A (p.Ile397=)
c.2502T>A (p.Ile834=)
c.2433T>A (p.Ile811=)
n.1350T>A
n.730T>A
c.343T>A
c.2553T>A (p.Ile851=)
c.2484T>A (p.Ile828=)
c.2556T>A (p.Ile852=)
n.2802T>A
c.2658T>A (p.Ile886=)
c.1893T>A (p.Ile631=)
c.2487T>A (p.Ile829=)
c.2505T>A (p.Ile835=)
c.936T>A (p.Ile312=)
c.1347T>A (p.Ile449=)
c.2448T>A (p.Ile816=)
c.2535T>A (p.Ile845=)
c.2466T>A (p.Ile822=)
c.1998T>A (p.Ile666=)
Xg.41523985A>CCA412989131CASKc.2519T>G (p.Ile840Ser)
c.2516T>G (p.Ile839Ser)
c.2570T>G (p.Ile857Ser)
c.2468T>G (p.Ile823Ser)
c.2573T>G (p.Ile858Ser)
c.1190T>G (p.Ile397Ser)
c.2501T>G (p.Ile834Ser)
c.2432T>G (p.Ile811Ser)
n.1349T>G
n.729T>G
c.342T>G
c.2552T>G (p.Ile851Ser)
c.2483T>G (p.Ile828Ser)
c.2555T>G (p.Ile852Ser)
n.2801T>G
c.2657T>G (p.Ile886Ser)
c.1892T>G (p.Ile631Ser)
c.2486T>G (p.Ile829Ser)
c.2504T>G (p.Ile835Ser)
c.935T>G (p.Ile312Ser)
c.1346T>G (p.Ile449Ser)
c.2447T>G (p.Ile816Ser)
c.2534T>G (p.Ile845Ser)
c.2465T>G (p.Ile822Ser)
c.1997T>G (p.Ile666Ser)
Xg.41523985A>GCA412989132CASKc.2519T>C (p.Ile840Thr)
c.2516T>C (p.Ile839Thr)
c.2570T>C (p.Ile857Thr)
c.2468T>C (p.Ile823Thr)
c.2573T>C (p.Ile858Thr)
c.1190T>C (p.Ile397Thr)
c.2501T>C (p.Ile834Thr)
c.2432T>C (p.Ile811Thr)
n.1349T>C
n.729T>C
c.342T>C
c.2552T>C (p.Ile851Thr)
c.2483T>C (p.Ile828Thr)
c.2555T>C (p.Ile852Thr)
n.2801T>C
c.2657T>C (p.Ile886Thr)
c.1892T>C (p.Ile631Thr)
c.2486T>C (p.Ile829Thr)
c.2504T>C (p.Ile835Thr)
c.935T>C (p.Ile312Thr)
c.1346T>C (p.Ile449Thr)
c.2447T>C (p.Ile816Thr)
c.2534T>C (p.Ile845Thr)
c.2465T>C (p.Ile822Thr)
c.1997T>C (p.Ile666Thr)
Xg.41523985A>TCA412989134CASKc.2519T>A (p.Ile840Asn)
c.2516T>A (p.Ile839Asn)
c.2570T>A (p.Ile857Asn)
c.2468T>A (p.Ile823Asn)
c.2573T>A (p.Ile858Asn)
c.1190T>A (p.Ile397Asn)
c.2501T>A (p.Ile834Asn)
c.2432T>A (p.Ile811Asn)
n.1349T>A
n.729T>A
c.342T>A
c.2552T>A (p.Ile851Asn)
c.2483T>A (p.Ile828Asn)
c.2555T>A (p.Ile852Asn)
n.2801T>A
c.2657T>A (p.Ile886Asn)
c.1892T>A (p.Ile631Asn)
c.2486T>A (p.Ile829Asn)
c.2504T>A (p.Ile835Asn)
c.935T>A (p.Ile312Asn)
c.1346T>A (p.Ile449Asn)
c.2447T>A (p.Ile816Asn)
c.2534T>A (p.Ile845Asn)
c.2465T>A (p.Ile822Asn)
c.1997T>A (p.Ile666Asn)
Xg.41523986T>ACA412989135CASKc.2518A>T (p.Ile840Phe)
c.2515A>T (p.Ile839Phe)
c.2569A>T (p.Ile857Phe)
c.2467A>T (p.Ile823Phe)
c.2572A>T (p.Ile858Phe)
c.1189A>T (p.Ile397Phe)
c.2500A>T (p.Ile834Phe)
c.2431A>T (p.Ile811Phe)
n.1348A>T
n.728A>T
c.341A>T
c.2551A>T (p.Ile851Phe)
c.2482A>T (p.Ile828Phe)
c.2554A>T (p.Ile852Phe)
n.2800A>T
c.2656A>T (p.Ile886Phe)
c.1891A>T (p.Ile631Phe)
c.2485A>T (p.Ile829Phe)
c.2503A>T (p.Ile835Phe)
c.934A>T (p.Ile312Phe)
c.1345A>T (p.Ile449Phe)
c.2446A>T (p.Ile816Phe)
c.2533A>T (p.Ile845Phe)
c.2464A>T (p.Ile822Phe)
c.1996A>T (p.Ile666Phe)
Xg.41523986T>CCA412989137CASKc.2518A>G (p.Ile840Val)
c.2515A>G (p.Ile839Val)
c.2569A>G (p.Ile857Val)
c.2467A>G (p.Ile823Val)
c.2572A>G (p.Ile858Val)
c.1189A>G (p.Ile397Val)
c.2500A>G (p.Ile834Val)
c.2431A>G (p.Ile811Val)
n.1348A>G
n.728A>G
c.341A>G
c.2551A>G (p.Ile851Val)
c.2482A>G (p.Ile828Val)
c.2554A>G (p.Ile852Val)
n.2800A>G
c.2656A>G (p.Ile886Val)
c.1891A>G (p.Ile631Val)
c.2485A>G (p.Ile829Val)
c.2503A>G (p.Ile835Val)
c.934A>G (p.Ile312Val)
c.1345A>G (p.Ile449Val)
c.2446A>G (p.Ile816Val)
c.2533A>G (p.Ile845Val)
c.2464A>G (p.Ile822Val)
c.1996A>G (p.Ile666Val)
 ClinVar dbSNP
Xg.41523986T>GCA412989139CASKc.2518A>C (p.Ile840Leu)
c.2515A>C (p.Ile839Leu)
c.2569A>C (p.Ile857Leu)
c.2467A>C (p.Ile823Leu)
c.2572A>C (p.Ile858Leu)
c.1189A>C (p.Ile397Leu)
c.2500A>C (p.Ile834Leu)
c.2431A>C (p.Ile811Leu)
n.1348A>C
n.728A>C
c.341A>C
c.2551A>C (p.Ile851Leu)
c.2482A>C (p.Ile828Leu)
c.2554A>C (p.Ile852Leu)
n.2800A>C
c.2656A>C (p.Ile886Leu)
c.1891A>C (p.Ile631Leu)
c.2485A>C (p.Ile829Leu)
c.2503A>C (p.Ile835Leu)
c.934A>C (p.Ile312Leu)
c.1345A>C (p.Ile449Leu)
c.2446A>C (p.Ile816Leu)
c.2533A>C (p.Ile845Leu)
c.2464A>C (p.Ile822Leu)
c.1996A>C (p.Ile666Leu)
Xg.41523987G>ACA516098974CASKc.2517C>T (p.Phe839=)
c.2514C>T (p.Phe838=)
c.2568C>T (p.Phe856=)
c.2466C>T (p.Phe822=)
c.2571C>T (p.Phe857=)
c.1188C>T (p.Phe396=)
c.2499C>T (p.Phe833=)
c.2430C>T (p.Phe810=)
n.1347C>T
n.727C>T
c.340C>T
c.2550C>T (p.Phe850=)
c.2481C>T (p.Phe827=)
c.2553C>T (p.Phe851=)
n.2799C>T
c.2655C>T (p.Phe885=)
c.1890C>T (p.Phe630=)
c.2484C>T (p.Phe828=)
c.2502C>T (p.Phe834=)
c.933C>T (p.Phe311=)
c.1344C>T (p.Phe448=)
c.2445C>T (p.Phe815=)
c.2532C>T (p.Phe844=)
c.2463C>T (p.Phe821=)
c.1995C>T (p.Phe665=)
Xg.41523987G>CCA412989141CASKc.2517C>G (p.Phe839Leu)
c.2514C>G (p.Phe838Leu)
c.2568C>G (p.Phe856Leu)
c.2466C>G (p.Phe822Leu)
c.2571C>G (p.Phe857Leu)
c.1188C>G (p.Phe396Leu)
c.2499C>G (p.Phe833Leu)
c.2430C>G (p.Phe810Leu)
n.1347C>G
n.727C>G
c.340C>G
c.2550C>G (p.Phe850Leu)
c.2481C>G (p.Phe827Leu)
c.2553C>G (p.Phe851Leu)
n.2799C>G
c.2655C>G (p.Phe885Leu)
c.1890C>G (p.Phe630Leu)
c.2484C>G (p.Phe828Leu)
c.2502C>G (p.Phe834Leu)
c.933C>G (p.Phe311Leu)
c.1344C>G (p.Phe448Leu)
c.2445C>G (p.Phe815Leu)
c.2532C>G (p.Phe844Leu)
c.2463C>G (p.Phe821Leu)
c.1995C>G (p.Phe665Leu)
Xg.41523987G>TCA412989142CASKc.2517C>A (p.Phe839Leu)
c.2514C>A (p.Phe838Leu)
c.2568C>A (p.Phe856Leu)
c.2466C>A (p.Phe822Leu)
c.2571C>A (p.Phe857Leu)
c.1188C>A (p.Phe396Leu)
c.2499C>A (p.Phe833Leu)
c.2430C>A (p.Phe810Leu)
n.1347C>A
n.727C>A
c.340C>A
c.2550C>A (p.Phe850Leu)
c.2481C>A (p.Phe827Leu)
c.2553C>A (p.Phe851Leu)
n.2799C>A
c.2655C>A (p.Phe885Leu)
c.1890C>A (p.Phe630Leu)
c.2484C>A (p.Phe828Leu)
c.2502C>A (p.Phe834Leu)
c.933C>A (p.Phe311Leu)
c.1344C>A (p.Phe448Leu)
c.2445C>A (p.Phe815Leu)
c.2532C>A (p.Phe844Leu)
c.2463C>A (p.Phe821Leu)
c.1995C>A (p.Phe665Leu)
Xg.41523988A=CA2425945445CASKc.2516T= (p.Phe839=)
c.2513T= (p.Phe838=)
c.2567T= (p.Phe856=)
c.2465T= (p.Phe822=)
c.2570T= (p.Phe857=)
c.1187T= (p.Phe396=)
c.2498T= (p.Phe833=)
c.2429T= (p.Phe810=)
n.1346T=
n.726T=
c.339T=
c.2549T= (p.Phe850=)
c.2480T= (p.Phe827=)
c.2552T= (p.Phe851=)
n.2798T=
c.2654T= (p.Phe885=)
c.1889T= (p.Phe630=)
c.2483T= (p.Phe828=)
c.2501T= (p.Phe834=)
c.932T= (p.Phe311=)
c.1343T= (p.Phe448=)
c.2444T= (p.Phe815=)
c.2531T= (p.Phe844=)
c.2462T= (p.Phe821=)
c.1994T= (p.Phe665=)
Xg.41523988A>CCA412989144CASKc.2516T>G (p.Phe839Cys)
c.2513T>G (p.Phe838Cys)
c.2567T>G (p.Phe856Cys)
c.2465T>G (p.Phe822Cys)
c.2570T>G (p.Phe857Cys)
c.1187T>G (p.Phe396Cys)
c.2498T>G (p.Phe833Cys)
c.2429T>G (p.Phe810Cys)
n.1346T>G
n.726T>G
c.339T>G
c.2549T>G (p.Phe850Cys)
c.2480T>G (p.Phe827Cys)
c.2552T>G (p.Phe851Cys)
n.2798T>G
c.2654T>G (p.Phe885Cys)
c.1889T>G (p.Phe630Cys)
c.2483T>G (p.Phe828Cys)
c.2501T>G (p.Phe834Cys)
c.932T>G (p.Phe311Cys)
c.1343T>G (p.Phe448Cys)
c.2444T>G (p.Phe815Cys)
c.2531T>G (p.Phe844Cys)
c.2462T>G (p.Phe821Cys)
c.1994T>G (p.Phe665Cys)
Xg.41523988A>GCA412989147CASKc.2516T>C (p.Phe839Ser)
c.2513T>C (p.Phe838Ser)
c.2567T>C (p.Phe856Ser)
c.2465T>C (p.Phe822Ser)
c.2570T>C (p.Phe857Ser)
c.1187T>C (p.Phe396Ser)
c.2498T>C (p.Phe833Ser)
c.2429T>C (p.Phe810Ser)
n.1346T>C
n.726T>C
c.339T>C
c.2549T>C (p.Phe850Ser)
c.2480T>C (p.Phe827Ser)
c.2552T>C (p.Phe851Ser)
n.2798T>C
c.2654T>C (p.Phe885Ser)
c.1889T>C (p.Phe630Ser)
c.2483T>C (p.Phe828Ser)
c.2501T>C (p.Phe834Ser)
c.932T>C (p.Phe311Ser)
c.1343T>C (p.Phe448Ser)
c.2444T>C (p.Phe815Ser)
c.2531T>C (p.Phe844Ser)
c.2462T>C (p.Phe821Ser)
c.1994T>C (p.Phe665Ser)
 dbSNP gnomAD v2 gnomAD v4
Xg.41523988A>TCA412989146CASKc.2516T>A (p.Phe839Tyr)
c.2513T>A (p.Phe838Tyr)
c.2567T>A (p.Phe856Tyr)
c.2465T>A (p.Phe822Tyr)
c.2570T>A (p.Phe857Tyr)
c.1187T>A (p.Phe396Tyr)
c.2498T>A (p.Phe833Tyr)
c.2429T>A (p.Phe810Tyr)
n.1346T>A
n.726T>A
c.339T>A
c.2549T>A (p.Phe850Tyr)
c.2480T>A (p.Phe827Tyr)
c.2552T>A (p.Phe851Tyr)
n.2798T>A
c.2654T>A (p.Phe885Tyr)
c.1889T>A (p.Phe630Tyr)
c.2483T>A (p.Phe828Tyr)
c.2501T>A (p.Phe834Tyr)
c.932T>A (p.Phe311Tyr)
c.1343T>A (p.Phe448Tyr)
c.2444T>A (p.Phe815Tyr)
c.2531T>A (p.Phe844Tyr)
c.2462T>A (p.Phe821Tyr)
c.1994T>A (p.Phe665Tyr)
Xg.41523989A>CCA412989149CASKc.2515T>G (p.Phe839Val)
c.2512T>G (p.Phe838Val)
c.2566T>G (p.Phe856Val)
c.2464T>G (p.Phe822Val)
c.2569T>G (p.Phe857Val)
c.1186T>G (p.Phe396Val)
c.2497T>G (p.Phe833Val)
c.2428T>G (p.Phe810Val)
n.1345T>G
n.725T>G
c.338T>G
c.2548T>G (p.Phe850Val)
c.2479T>G (p.Phe827Val)
c.2551T>G (p.Phe851Val)
n.2797T>G
c.2653T>G (p.Phe885Val)
c.1888T>G (p.Phe630Val)
c.2482T>G (p.Phe828Val)
c.2500T>G (p.Phe834Val)
c.931T>G (p.Phe311Val)
c.1342T>G (p.Phe448Val)
c.2443T>G (p.Phe815Val)
c.2530T>G (p.Phe844Val)
c.2461T>G (p.Phe821Val)
c.1993T>G (p.Phe665Val)
Xg.41523989A>GCA412989150CASKc.2515T>C (p.Phe839Leu)
c.2512T>C (p.Phe838Leu)
c.2566T>C (p.Phe856Leu)
c.2464T>C (p.Phe822Leu)
c.2569T>C (p.Phe857Leu)
c.1186T>C (p.Phe396Leu)
c.2497T>C (p.Phe833Leu)
c.2428T>C (p.Phe810Leu)
n.1345T>C
n.725T>C
c.338T>C
c.2548T>C (p.Phe850Leu)
c.2479T>C (p.Phe827Leu)
c.2551T>C (p.Phe851Leu)
n.2797T>C
c.2653T>C (p.Phe885Leu)
c.1888T>C (p.Phe630Leu)
c.2482T>C (p.Phe828Leu)
c.2500T>C (p.Phe834Leu)
c.931T>C (p.Phe311Leu)
c.1342T>C (p.Phe448Leu)
c.2443T>C (p.Phe815Leu)
c.2530T>C (p.Phe844Leu)
c.2461T>C (p.Phe821Leu)
c.1993T>C (p.Phe665Leu)
Xg.41523989A>TCA412989152CASKc.2515T>A (p.Phe839Ile)
c.2512T>A (p.Phe838Ile)
c.2566T>A (p.Phe856Ile)
c.2464T>A (p.Phe822Ile)
c.2569T>A (p.Phe857Ile)
c.1186T>A (p.Phe396Ile)
c.2497T>A (p.Phe833Ile)
c.2428T>A (p.Phe810Ile)
n.1345T>A
n.725T>A
c.338T>A
c.2548T>A (p.Phe850Ile)
c.2479T>A (p.Phe827Ile)
c.2551T>A (p.Phe851Ile)
n.2797T>A
c.2653T>A (p.Phe885Ile)
c.1888T>A (p.Phe630Ile)
c.2482T>A (p.Phe828Ile)
c.2500T>A (p.Phe834Ile)
c.931T>A (p.Phe311Ile)
c.1342T>A (p.Phe448Ile)
c.2443T>A (p.Phe815Ile)
c.2530T>A (p.Phe844Ile)
c.2461T>A (p.Phe821Ile)
c.1993T>A (p.Phe665Ile)
Xg.41523990A>CCA516098977CASKc.2514T>G (p.Val838=)
c.2511T>G (p.Val837=)
c.2565T>G (p.Val855=)
c.2463T>G (p.Val821=)
c.2568T>G (p.Val856=)
c.1185T>G (p.Val395=)
c.2496T>G (p.Val832=)
c.2427T>G (p.Val809=)
n.1344T>G
n.724T>G
c.337T>G
c.2547T>G (p.Val849=)
c.2478T>G (p.Val826=)
c.2550T>G (p.Val850=)
n.2796T>G
c.2652T>G (p.Val884=)
c.1887T>G (p.Val629=)
c.2481T>G (p.Val827=)
c.2499T>G (p.Val833=)
c.930T>G (p.Val310=)
c.1341T>G (p.Val447=)
c.2442T>G (p.Val814=)
c.2529T>G (p.Val843=)
c.2460T>G (p.Val820=)
c.1992T>G (p.Val664=)
Xg.41523990A>GCA516098976CASKc.2514T>C (p.Val838=)
c.2511T>C (p.Val837=)
c.2565T>C (p.Val855=)
c.2463T>C (p.Val821=)
c.2568T>C (p.Val856=)
c.1185T>C (p.Val395=)
c.2496T>C (p.Val832=)
c.2427T>C (p.Val809=)
n.1344T>C
n.724T>C
c.337T>C
c.2547T>C (p.Val849=)
c.2478T>C (p.Val826=)
c.2550T>C (p.Val850=)
n.2796T>C
c.2652T>C (p.Val884=)
c.1887T>C (p.Val629=)
c.2481T>C (p.Val827=)
c.2499T>C (p.Val833=)
c.930T>C (p.Val310=)
c.1341T>C (p.Val447=)
c.2442T>C (p.Val814=)
c.2529T>C (p.Val843=)
c.2460T>C (p.Val820=)
c.1992T>C (p.Val664=)
Xg.41523990A>TCA516098975CASKc.2514T>A (p.Val838=)
c.2511T>A (p.Val837=)
c.2565T>A (p.Val855=)
c.2463T>A (p.Val821=)
c.2568T>A (p.Val856=)
c.1185T>A (p.Val395=)
c.2496T>A (p.Val832=)
c.2427T>A (p.Val809=)
n.1344T>A
n.724T>A
c.337T>A
c.2547T>A (p.Val849=)
c.2478T>A (p.Val826=)
c.2550T>A (p.Val850=)
n.2796T>A
c.2652T>A (p.Val884=)
c.1887T>A (p.Val629=)
c.2481T>A (p.Val827=)
c.2499T>A (p.Val833=)
c.930T>A (p.Val310=)
c.1341T>A (p.Val447=)
c.2442T>A (p.Val814=)
c.2529T>A (p.Val843=)
c.2460T>A (p.Val820=)
c.1992T>A (p.Val664=)
Xg.41523991A>CCA412989154CASKc.2513T>G (p.Val838Gly)
c.2510T>G (p.Val837Gly)
c.2564T>G (p.Val855Gly)
c.2462T>G (p.Val821Gly)
c.2567T>G (p.Val856Gly)
c.1184T>G (p.Val395Gly)
c.2495T>G (p.Val832Gly)
c.2426T>G (p.Val809Gly)
n.1343T>G
n.723T>G
c.336T>G
c.2546T>G (p.Val849Gly)
c.2477T>G (p.Val826Gly)
c.2549T>G (p.Val850Gly)
n.2795T>G
c.2651T>G (p.Val884Gly)
c.1886T>G (p.Val629Gly)
c.2480T>G (p.Val827Gly)
c.2498T>G (p.Val833Gly)
c.929T>G (p.Val310Gly)
c.1340T>G (p.Val447Gly)
c.2441T>G (p.Val814Gly)
c.2528T>G (p.Val843Gly)
c.2459T>G (p.Val820Gly)
c.1991T>G (p.Val664Gly)
Xg.41523991A>GCA412989155CASKc.2513T>C (p.Val838Ala)
c.2510T>C (p.Val837Ala)
c.2564T>C (p.Val855Ala)
c.2462T>C (p.Val821Ala)
c.2567T>C (p.Val856Ala)
c.1184T>C (p.Val395Ala)
c.2495T>C (p.Val832Ala)
c.2426T>C (p.Val809Ala)
n.1343T>C
n.723T>C
c.336T>C
c.2546T>C (p.Val849Ala)
c.2477T>C (p.Val826Ala)
c.2549T>C (p.Val850Ala)
n.2795T>C
c.2651T>C (p.Val884Ala)
c.1886T>C (p.Val629Ala)
c.2480T>C (p.Val827Ala)
c.2498T>C (p.Val833Ala)
c.929T>C (p.Val310Ala)
c.1340T>C (p.Val447Ala)
c.2441T>C (p.Val814Ala)
c.2528T>C (p.Val843Ala)
c.2459T>C (p.Val820Ala)
c.1991T>C (p.Val664Ala)
Xg.41523991A>TCA412989157CASKc.2513T>A (p.Val838Asp)
c.2510T>A (p.Val837Asp)
c.2564T>A (p.Val855Asp)
c.2462T>A (p.Val821Asp)
c.2567T>A (p.Val856Asp)
c.1184T>A (p.Val395Asp)
c.2495T>A (p.Val832Asp)
c.2426T>A (p.Val809Asp)
n.1343T>A
n.723T>A
c.336T>A
c.2546T>A (p.Val849Asp)
c.2477T>A (p.Val826Asp)
c.2549T>A (p.Val850Asp)
n.2795T>A
c.2651T>A (p.Val884Asp)
c.1886T>A (p.Val629Asp)
c.2480T>A (p.Val827Asp)
c.2498T>A (p.Val833Asp)
c.929T>A (p.Val310Asp)
c.1340T>A (p.Val447Asp)
c.2441T>A (p.Val814Asp)
c.2528T>A (p.Val843Asp)
c.2459T>A (p.Val820Asp)
c.1991T>A (p.Val664Asp)
Xg.41523992C>ACA412989158CASKc.2512G>T (p.Val838Phe)
c.2509G>T (p.Val837Phe)
c.2563G>T (p.Val855Phe)
c.2461G>T (p.Val821Phe)
c.2566G>T (p.Val856Phe)
c.1183G>T (p.Val395Phe)
c.2494G>T (p.Val832Phe)
c.2425G>T (p.Val809Phe)
n.1342G>T
n.722G>T
c.335G>T
c.2545G>T (p.Val849Phe)
c.2476G>T (p.Val826Phe)
c.2548G>T (p.Val850Phe)
n.2794G>T
c.2650G>T (p.Val884Phe)
c.1885G>T (p.Val629Phe)
c.2479G>T (p.Val827Phe)
c.2497G>T (p.Val833Phe)
c.928G>T (p.Val310Phe)
c.1339G>T (p.Val447Phe)
c.2440G>T (p.Val814Phe)
c.2527G>T (p.Val843Phe)
c.2458G>T (p.Val820Phe)
c.1990G>T (p.Val664Phe)
 gnomAD v3 gnomAD v4
Xg.41523992C=CA2425945446CASKc.2512G= (p.Val838=)
c.2509G= (p.Val837=)
c.2563G= (p.Val855=)
c.2461G= (p.Val821=)
c.2566G= (p.Val856=)
c.1183G= (p.Val395=)
c.2494G= (p.Val832=)
c.2425G= (p.Val809=)
n.1342G=
n.722G=
c.335G=
c.2545G= (p.Val849=)
c.2476G= (p.Val826=)
c.2548G= (p.Val850=)
n.2794G=
c.2650G= (p.Val884=)
c.1885G= (p.Val629=)
c.2479G= (p.Val827=)
c.2497G= (p.Val833=)
c.928G= (p.Val310=)
c.1339G= (p.Val447=)
c.2440G= (p.Val814=)
c.2527G= (p.Val843=)
c.2458G= (p.Val820=)
c.1990G= (p.Val664=)
Xg.41523992C>GCA412989160CASKc.2512G>C (p.Val838Leu)
c.2509G>C (p.Val837Leu)
c.2563G>C (p.Val855Leu)
c.2461G>C (p.Val821Leu)
c.2566G>C (p.Val856Leu)
c.1183G>C (p.Val395Leu)
c.2494G>C (p.Val832Leu)
c.2425G>C (p.Val809Leu)
n.1342G>C
n.722G>C
c.335G>C
c.2545G>C (p.Val849Leu)
c.2476G>C (p.Val826Leu)
c.2548G>C (p.Val850Leu)
n.2794G>C
c.2650G>C (p.Val884Leu)
c.1885G>C (p.Val629Leu)
c.2479G>C (p.Val827Leu)
c.2497G>C (p.Val833Leu)
c.928G>C (p.Val310Leu)
c.1339G>C (p.Val447Leu)
c.2440G>C (p.Val814Leu)
c.2527G>C (p.Val843Leu)
c.2458G>C (p.Val820Leu)
c.1990G>C (p.Val664Leu)
Xg.41523992C>TCA412989162CASKc.2512G>A (p.Val838Ile)
c.2509G>A (p.Val837Ile)
c.2563G>A (p.Val855Ile)
c.2461G>A (p.Val821Ile)
c.2566G>A (p.Val856Ile)
c.1183G>A (p.Val395Ile)
c.2494G>A (p.Val832Ile)
c.2425G>A (p.Val809Ile)
n.1342G>A
n.722G>A
c.335G>A
c.2545G>A (p.Val849Ile)
c.2476G>A (p.Val826Ile)
c.2548G>A (p.Val850Ile)
n.2794G>A
c.2650G>A (p.Val884Ile)
c.1885G>A (p.Val629Ile)
c.2479G>A (p.Val827Ile)
c.2497G>A (p.Val833Ile)
c.928G>A (p.Val310Ile)
c.1339G>A (p.Val447Ile)
c.2440G>A (p.Val814Ile)
c.2527G>A (p.Val843Ile)
c.2458G>A (p.Val820Ile)
c.1990G>A (p.Val664Ile)
 dbSNP gnomAD v2 gnomAD v4
Xg.41523993A>CCA516098978CASKc.2511T>G (p.Val837=)
c.2508T>G (p.Val836=)
c.2562T>G (p.Val854=)
c.2460T>G (p.Val820=)
c.2565T>G (p.Val855=)
c.1182T>G (p.Val394=)
c.2493T>G (p.Val831=)
c.2424T>G (p.Val808=)
n.1341T>G
n.721T>G
c.334T>G
c.2544T>G (p.Val848=)
c.2475T>G (p.Val825=)
c.2547T>G (p.Val849=)
n.2793T>G
c.2649T>G (p.Val883=)
c.1884T>G (p.Val628=)
c.2478T>G (p.Val826=)
c.2496T>G (p.Val832=)
c.927T>G (p.Val309=)
c.1338T>G (p.Val446=)
c.2439T>G (p.Val813=)
c.2526T>G (p.Val842=)
c.2457T>G (p.Val819=)
c.1989T>G (p.Val663=)
Xg.41523993A>GCA516098980CASKc.2511T>C (p.Val837=)
c.2508T>C (p.Val836=)
c.2562T>C (p.Val854=)
c.2460T>C (p.Val820=)
c.2565T>C (p.Val855=)
c.1182T>C (p.Val394=)
c.2493T>C (p.Val831=)
c.2424T>C (p.Val808=)
n.1341T>C
n.721T>C
c.334T>C
c.2544T>C (p.Val848=)
c.2475T>C (p.Val825=)
c.2547T>C (p.Val849=)
n.2793T>C
c.2649T>C (p.Val883=)
c.1884T>C (p.Val628=)
c.2478T>C (p.Val826=)
c.2496T>C (p.Val832=)
c.927T>C (p.Val309=)
c.1338T>C (p.Val446=)
c.2439T>C (p.Val813=)
c.2526T>C (p.Val842=)
c.2457T>C (p.Val819=)
c.1989T>C (p.Val663=)
Xg.41523993A>TCA516098979CASKc.2511T>A (p.Val837=)
c.2508T>A (p.Val836=)
c.2562T>A (p.Val854=)
c.2460T>A (p.Val820=)
c.2565T>A (p.Val855=)
c.1182T>A (p.Val394=)
c.2493T>A (p.Val831=)
c.2424T>A (p.Val808=)
n.1341T>A
n.721T>A
c.334T>A
c.2544T>A (p.Val848=)
c.2475T>A (p.Val825=)
c.2547T>A (p.Val849=)
n.2793T>A
c.2649T>A (p.Val883=)
c.1884T>A (p.Val628=)
c.2478T>A (p.Val826=)
c.2496T>A (p.Val832=)
c.927T>A (p.Val309=)
c.1338T>A (p.Val446=)
c.2439T>A (p.Val813=)
c.2526T>A (p.Val842=)
c.2457T>A (p.Val819=)
c.1989T>A (p.Val663=)
Xg.41523994A=CA2425945447CASKc.2510T= (p.Val837=)
c.2507T= (p.Val836=)
c.2561T= (p.Val854=)
c.2459T= (p.Val820=)
c.2564T= (p.Val855=)
c.1181T= (p.Val394=)
c.2492T= (p.Val831=)
c.2423T= (p.Val808=)
n.1340T=
n.720T=
c.333T=
c.2543T= (p.Val848=)
c.2474T= (p.Val825=)
c.2546T= (p.Val849=)
n.2792T=
c.2648T= (p.Val883=)
c.1883T= (p.Val628=)
c.2477T= (p.Val826=)
c.2495T= (p.Val832=)
c.926T= (p.Val309=)
c.1337T= (p.Val446=)
c.2438T= (p.Val813=)
c.2525T= (p.Val842=)
c.2456T= (p.Val819=)
c.1988T= (p.Val663=)
Xg.41523994A>CCA412989163CASKc.2510T>G (p.Val837Gly)
c.2507T>G (p.Val836Gly)
c.2561T>G (p.Val854Gly)
c.2459T>G (p.Val820Gly)
c.2564T>G (p.Val855Gly)
c.1181T>G (p.Val394Gly)
c.2492T>G (p.Val831Gly)
c.2423T>G (p.Val808Gly)
n.1340T>G
n.720T>G
c.333T>G
c.2543T>G (p.Val848Gly)
c.2474T>G (p.Val825Gly)
c.2546T>G (p.Val849Gly)
n.2792T>G
c.2648T>G (p.Val883Gly)
c.1883T>G (p.Val628Gly)
c.2477T>G (p.Val826Gly)
c.2495T>G (p.Val832Gly)
c.926T>G (p.Val309Gly)
c.1337T>G (p.Val446Gly)
c.2438T>G (p.Val813Gly)
c.2525T>G (p.Val842Gly)
c.2456T>G (p.Val819Gly)
c.1988T>G (p.Val663Gly)
Xg.41523994A>GCA412989165CASKc.2510T>C (p.Val837Ala)
c.2507T>C (p.Val836Ala)
c.2561T>C (p.Val854Ala)
c.2459T>C (p.Val820Ala)
c.2564T>C (p.Val855Ala)
c.1181T>C (p.Val394Ala)
c.2492T>C (p.Val831Ala)
c.2423T>C (p.Val808Ala)
n.1340T>C
n.720T>C
c.333T>C
c.2543T>C (p.Val848Ala)
c.2474T>C (p.Val825Ala)
c.2546T>C (p.Val849Ala)
n.2792T>C
c.2648T>C (p.Val883Ala)
c.1883T>C (p.Val628Ala)
c.2477T>C (p.Val826Ala)
c.2495T>C (p.Val832Ala)
c.926T>C (p.Val309Ala)
c.1337T>C (p.Val446Ala)
c.2438T>C (p.Val813Ala)
c.2525T>C (p.Val842Ala)
c.2456T>C (p.Val819Ala)
c.1988T>C (p.Val663Ala)
 ClinVar dbSNP
Xg.41523994A>TCA412989166CASKc.2510T>A (p.Val837Asp)
c.2507T>A (p.Val836Asp)
c.2561T>A (p.Val854Asp)
c.2459T>A (p.Val820Asp)
c.2564T>A (p.Val855Asp)
c.1181T>A (p.Val394Asp)
c.2492T>A (p.Val831Asp)
c.2423T>A (p.Val808Asp)
n.1340T>A
n.720T>A
c.333T>A
c.2543T>A (p.Val848Asp)
c.2474T>A (p.Val825Asp)
c.2546T>A (p.Val849Asp)
n.2792T>A
c.2648T>A (p.Val883Asp)
c.1883T>A (p.Val628Asp)
c.2477T>A (p.Val826Asp)
c.2495T>A (p.Val832Asp)
c.926T>A (p.Val309Asp)
c.1337T>A (p.Val446Asp)
c.2438T>A (p.Val813Asp)
c.2525T>A (p.Val842Asp)
c.2456T>A (p.Val819Asp)
c.1988T>A (p.Val663Asp)
Xg.41523995C>ACA412989171CASKc.2509G>T (p.Val837Phe)
c.2506G>T (p.Val836Phe)
c.2560G>T (p.Val854Phe)
c.2458G>T (p.Val820Phe)
c.2563G>T (p.Val855Phe)
c.1180G>T (p.Val394Phe)
c.2491G>T (p.Val831Phe)
c.2422G>T (p.Val808Phe)
n.1339G>T
n.719G>T
c.332G>T
c.2542G>T (p.Val848Phe)
c.2473G>T (p.Val825Phe)
c.2545G>T (p.Val849Phe)
n.2791G>T
c.2647G>T (p.Val883Phe)
c.1882G>T (p.Val628Phe)
c.2476G>T (p.Val826Phe)
c.2494G>T (p.Val832Phe)
c.925G>T (p.Val309Phe)
c.1336G>T (p.Val446Phe)
c.2437G>T (p.Val813Phe)
c.2524G>T (p.Val842Phe)
c.2455G>T (p.Val819Phe)
c.1987G>T (p.Val663Phe)
 gnomAD v3 gnomAD v4
Xg.41523995C>GCA412989168CASKc.2509G>C (p.Val837Leu)
c.2506G>C (p.Val836Leu)
c.2560G>C (p.Val854Leu)
c.2458G>C (p.Val820Leu)
c.2563G>C (p.Val855Leu)
c.1180G>C (p.Val394Leu)
c.2491G>C (p.Val831Leu)
c.2422G>C (p.Val808Leu)
n.1339G>C
n.719G>C
c.332G>C
c.2542G>C (p.Val848Leu)
c.2473G>C (p.Val825Leu)
c.2545G>C (p.Val849Leu)
n.2791G>C
c.2647G>C (p.Val883Leu)
c.1882G>C (p.Val628Leu)
c.2476G>C (p.Val826Leu)
c.2494G>C (p.Val832Leu)
c.925G>C (p.Val309Leu)
c.1336G>C (p.Val446Leu)
c.2437G>C (p.Val813Leu)
c.2524G>C (p.Val842Leu)
c.2455G>C (p.Val819Leu)
c.1987G>C (p.Val663Leu)
Xg.41523995C>TCA412989170CASKc.2509G>A (p.Val837Ile)
c.2506G>A (p.Val836Ile)
c.2560G>A (p.Val854Ile)
c.2458G>A (p.Val820Ile)
c.2563G>A (p.Val855Ile)
c.1180G>A (p.Val394Ile)
c.2491G>A (p.Val831Ile)
c.2422G>A (p.Val808Ile)
n.1339G>A
n.719G>A
c.332G>A
c.2542G>A (p.Val848Ile)
c.2473G>A (p.Val825Ile)
c.2545G>A (p.Val849Ile)
n.2791G>A
c.2647G>A (p.Val883Ile)
c.1882G>A (p.Val628Ile)
c.2476G>A (p.Val826Ile)
c.2494G>A (p.Val832Ile)
c.925G>A (p.Val309Ile)
c.1336G>A (p.Val446Ile)
c.2437G>A (p.Val813Ile)
c.2524G>A (p.Val842Ile)
c.2455G>A (p.Val819Ile)
c.1987G>A (p.Val663Ile)
 ClinVar
Xg.41523996A>CCA412989173CASKc.2508T>G (p.Phe836Leu)
c.2505T>G (p.Phe835Leu)
c.2559T>G (p.Phe853Leu)
c.2457T>G (p.Phe819Leu)
c.2562T>G (p.Phe854Leu)
c.1179T>G (p.Phe393Leu)
c.2490T>G (p.Phe830Leu)
c.2421T>G (p.Phe807Leu)
n.1338T>G
n.718T>G
c.331T>G
c.2541T>G (p.Phe847Leu)
c.2472T>G (p.Phe824Leu)
c.2544T>G (p.Phe848Leu)
n.2790T>G
c.2646T>G (p.Phe882Leu)
c.1881T>G (p.Phe627Leu)
c.2475T>G (p.Phe825Leu)
c.2493T>G (p.Phe831Leu)
c.924T>G (p.Phe308Leu)
c.1335T>G (p.Phe445Leu)
c.2436T>G (p.Phe812Leu)
c.2523T>G (p.Phe841Leu)
c.2454T>G (p.Phe818Leu)
c.1986T>G (p.Phe662Leu)
Xg.41523996A>GCA516098981CASKc.2508T>C (p.Phe836=)
c.2505T>C (p.Phe835=)
c.2559T>C (p.Phe853=)
c.2457T>C (p.Phe819=)
c.2562T>C (p.Phe854=)
c.1179T>C (p.Phe393=)
c.2490T>C (p.Phe830=)
c.2421T>C (p.Phe807=)
n.1338T>C
n.718T>C
c.331T>C
c.2541T>C (p.Phe847=)
c.2472T>C (p.Phe824=)
c.2544T>C (p.Phe848=)
n.2790T>C
c.2646T>C (p.Phe882=)
c.1881T>C (p.Phe627=)
c.2475T>C (p.Phe825=)
c.2493T>C (p.Phe831=)
c.924T>C (p.Phe308=)
c.1335T>C (p.Phe445=)
c.2436T>C (p.Phe812=)
c.2523T>C (p.Phe841=)
c.2454T>C (p.Phe818=)
c.1986T>C (p.Phe662=)
Xg.41523996A>TCA412989174CASKc.2508T>A (p.Phe836Leu)
c.2505T>A (p.Phe835Leu)
c.2559T>A (p.Phe853Leu)
c.2457T>A (p.Phe819Leu)
c.2562T>A (p.Phe854Leu)
c.1179T>A (p.Phe393Leu)
c.2490T>A (p.Phe830Leu)
c.2421T>A (p.Phe807Leu)
n.1338T>A
n.718T>A
c.331T>A
c.2541T>A (p.Phe847Leu)
c.2472T>A (p.Phe824Leu)
c.2544T>A (p.Phe848Leu)
n.2790T>A
c.2646T>A (p.Phe882Leu)
c.1881T>A (p.Phe627Leu)
c.2475T>A (p.Phe825Leu)
c.2493T>A (p.Phe831Leu)
c.924T>A (p.Phe308Leu)
c.1335T>A (p.Phe445Leu)
c.2436T>A (p.Phe812Leu)
c.2523T>A (p.Phe841Leu)
c.2454T>A (p.Phe818Leu)
c.1986T>A (p.Phe662Leu)
Xg.41523997A>CCA412989176CASKc.2507T>G (p.Phe836Cys)
c.2504T>G (p.Phe835Cys)
c.2558T>G (p.Phe853Cys)
c.2456T>G (p.Phe819Cys)
c.2561T>G (p.Phe854Cys)
c.1178T>G (p.Phe393Cys)
c.2489T>G (p.Phe830Cys)
c.2420T>G (p.Phe807Cys)
n.1337T>G
n.717T>G
c.330T>G
c.2540T>G (p.Phe847Cys)
c.2471T>G (p.Phe824Cys)
c.2543T>G (p.Phe848Cys)
n.2789T>G
c.2645T>G (p.Phe882Cys)
c.1880T>G (p.Phe627Cys)
c.2474T>G (p.Phe825Cys)
c.2492T>G (p.Phe831Cys)
c.923T>G (p.Phe308Cys)
c.1334T>G (p.Phe445Cys)
c.2435T>G (p.Phe812Cys)
c.2522T>G (p.Phe841Cys)
c.2453T>G (p.Phe818Cys)
c.1985T>G (p.Phe662Cys)
Xg.41523997A>GCA412989178CASKc.2507T>C (p.Phe836Ser)
c.2504T>C (p.Phe835Ser)
c.2558T>C (p.Phe853Ser)
c.2456T>C (p.Phe819Ser)
c.2561T>C (p.Phe854Ser)
c.1178T>C (p.Phe393Ser)
c.2489T>C (p.Phe830Ser)
c.2420T>C (p.Phe807Ser)
n.1337T>C
n.717T>C
c.330T>C
c.2540T>C (p.Phe847Ser)
c.2471T>C (p.Phe824Ser)
c.2543T>C (p.Phe848Ser)
n.2789T>C
c.2645T>C (p.Phe882Ser)
c.1880T>C (p.Phe627Ser)
c.2474T>C (p.Phe825Ser)
c.2492T>C (p.Phe831Ser)
c.923T>C (p.Phe308Ser)
c.1334T>C (p.Phe445Ser)
c.2435T>C (p.Phe812Ser)
c.2522T>C (p.Phe841Ser)
c.2453T>C (p.Phe818Ser)
c.1985T>C (p.Phe662Ser)
Xg.41523997A>TCA412989180CASKc.2507T>A (p.Phe836Tyr)
c.2504T>A (p.Phe835Tyr)
c.2558T>A (p.Phe853Tyr)
c.2456T>A (p.Phe819Tyr)
c.2561T>A (p.Phe854Tyr)
c.1178T>A (p.Phe393Tyr)
c.2489T>A (p.Phe830Tyr)
c.2420T>A (p.Phe807Tyr)
n.1337T>A
n.717T>A
c.330T>A
c.2540T>A (p.Phe847Tyr)
c.2471T>A (p.Phe824Tyr)
c.2543T>A (p.Phe848Tyr)
n.2789T>A
c.2645T>A (p.Phe882Tyr)
c.1880T>A (p.Phe627Tyr)
c.2474T>A (p.Phe825Tyr)
c.2492T>A (p.Phe831Tyr)
c.923T>A (p.Phe308Tyr)
c.1334T>A (p.Phe445Tyr)
c.2435T>A (p.Phe812Tyr)
c.2522T>A (p.Phe841Tyr)
c.2453T>A (p.Phe818Tyr)
c.1985T>A (p.Phe662Tyr)
Xg.41523998A>CCA412989181CASKc.2506T>G (p.Phe836Val)
c.2503T>G (p.Phe835Val)
c.2557T>G (p.Phe853Val)
c.2455T>G (p.Phe819Val)
c.2560T>G (p.Phe854Val)
c.1177T>G (p.Phe393Val)
c.2488T>G (p.Phe830Val)
c.2419T>G (p.Phe807Val)
n.1336T>G
n.716T>G
c.329T>G
c.2539T>G (p.Phe847Val)
c.2470T>G (p.Phe824Val)
c.2542T>G (p.Phe848Val)
n.2788T>G
c.2644T>G (p.Phe882Val)
c.1879T>G (p.Phe627Val)
c.2473T>G (p.Phe825Val)
c.2491T>G (p.Phe831Val)
c.922T>G (p.Phe308Val)
c.1333T>G (p.Phe445Val)
c.2434T>G (p.Phe812Val)
c.2521T>G (p.Phe841Val)
c.2452T>G (p.Phe818Val)
c.1984T>G (p.Phe662Val)
Xg.41523998A>GCA412989182CASKc.2506T>C (p.Phe836Leu)
c.2503T>C (p.Phe835Leu)
c.2557T>C (p.Phe853Leu)
c.2455T>C (p.Phe819Leu)
c.2560T>C (p.Phe854Leu)
c.1177T>C (p.Phe393Leu)
c.2488T>C (p.Phe830Leu)
c.2419T>C (p.Phe807Leu)
n.1336T>C
n.716T>C
c.329T>C
c.2539T>C (p.Phe847Leu)
c.2470T>C (p.Phe824Leu)
c.2542T>C (p.Phe848Leu)
n.2788T>C
c.2644T>C (p.Phe882Leu)
c.1879T>C (p.Phe627Leu)
c.2473T>C (p.Phe825Leu)
c.2491T>C (p.Phe831Leu)
c.922T>C (p.Phe308Leu)
c.1333T>C (p.Phe445Leu)
c.2434T>C (p.Phe812Leu)
c.2521T>C (p.Phe841Leu)
c.2452T>C (p.Phe818Leu)
c.1984T>C (p.Phe662Leu)
Xg.41523998A>TCA412989183CASKc.2506T>A (p.Phe836Ile)
c.2503T>A (p.Phe835Ile)
c.2557T>A (p.Phe853Ile)
c.2455T>A (p.Phe819Ile)
c.2560T>A (p.Phe854Ile)
c.1177T>A (p.Phe393Ile)
c.2488T>A (p.Phe830Ile)
c.2419T>A (p.Phe807Ile)
n.1336T>A
n.716T>A
c.329T>A
c.2539T>A (p.Phe847Ile)
c.2470T>A (p.Phe824Ile)
c.2542T>A (p.Phe848Ile)
n.2788T>A
c.2644T>A (p.Phe882Ile)
c.1879T>A (p.Phe627Ile)
c.2473T>A (p.Phe825Ile)
c.2491T>A (p.Phe831Ile)
c.922T>A (p.Phe308Ile)
c.1333T>A (p.Phe445Ile)
c.2434T>A (p.Phe812Ile)
c.2521T>A (p.Phe841Ile)
c.2452T>A (p.Phe818Ile)
c.1984T>A (p.Phe662Ile)
Xg.41523999A>CCA516098985CASKc.2505T>G (p.Pro835=)
c.2502T>G (p.Pro834=)
c.2556T>G (p.Pro852=)
c.2454T>G (p.Pro818=)
c.2559T>G (p.Pro853=)
c.1176T>G (p.Pro392=)
c.2487T>G (p.Pro829=)
c.2418T>G (p.Pro806=)
n.1335T>G
n.715T>G
c.328T>G
c.2538T>G (p.Pro846=)
c.2469T>G (p.Pro823=)
c.2541T>G (p.Pro847=)
n.2787T>G
c.2643T>G (p.Pro881=)
c.1878T>G (p.Pro626=)
c.2472T>G (p.Pro824=)
c.2490T>G (p.Pro830=)
c.921T>G (p.Pro307=)
c.1332T>G (p.Pro444=)
c.2433T>G (p.Pro811=)
c.2520T>G (p.Pro840=)
c.2451T>G (p.Pro817=)
c.1983T>G (p.Pro661=)
Xg.41523999A>GCA516098986CASKc.2505T>C (p.Pro835=)
c.2502T>C (p.Pro834=)
c.2556T>C (p.Pro852=)
c.2454T>C (p.Pro818=)
c.2559T>C (p.Pro853=)
c.1176T>C (p.Pro392=)
c.2487T>C (p.Pro829=)
c.2418T>C (p.Pro806=)
n.1335T>C
n.715T>C
c.328T>C
c.2538T>C (p.Pro846=)
c.2469T>C (p.Pro823=)
c.2541T>C (p.Pro847=)
n.2787T>C
c.2643T>C (p.Pro881=)
c.1878T>C (p.Pro626=)
c.2472T>C (p.Pro824=)
c.2490T>C (p.Pro830=)
c.921T>C (p.Pro307=)
c.1332T>C (p.Pro444=)
c.2433T>C (p.Pro811=)
c.2520T>C (p.Pro840=)
c.2451T>C (p.Pro817=)
c.1983T>C (p.Pro661=)
Xg.41523999A>TCA516098987CASKc.2505T>A (p.Pro835=)
c.2502T>A (p.Pro834=)
c.2556T>A (p.Pro852=)
c.2454T>A (p.Pro818=)
c.2559T>A (p.Pro853=)
c.1176T>A (p.Pro392=)
c.2487T>A (p.Pro829=)
c.2418T>A (p.Pro806=)
n.1335T>A
n.715T>A
c.328T>A
c.2538T>A (p.Pro846=)
c.2469T>A (p.Pro823=)
c.2541T>A (p.Pro847=)
n.2787T>A
c.2643T>A (p.Pro881=)
c.1878T>A (p.Pro626=)
c.2472T>A (p.Pro824=)
c.2490T>A (p.Pro830=)
c.921T>A (p.Pro307=)
c.1332T>A (p.Pro444=)
c.2433T>A (p.Pro811=)
c.2520T>A (p.Pro840=)
c.2451T>A (p.Pro817=)
c.1983T>A (p.Pro661=)
 gnomAD v4
Xg.41524000G>ACA412989185CASKc.2504C>T (p.Pro835Leu)
c.2501C>T (p.Pro834Leu)
c.2555C>T (p.Pro852Leu)
c.2453C>T (p.Pro818Leu)
c.2558C>T (p.Pro853Leu)
c.1175C>T (p.Pro392Leu)
c.2486C>T (p.Pro829Leu)
c.2417C>T (p.Pro806Leu)
n.1334C>T
n.714C>T
c.327C>T
c.2537C>T (p.Pro846Leu)
c.2468C>T (p.Pro823Leu)
c.2540C>T (p.Pro847Leu)
n.2786C>T
c.2642C>T (p.Pro881Leu)
c.1877C>T (p.Pro626Leu)
c.2471C>T (p.Pro824Leu)
c.2489C>T (p.Pro830Leu)
c.920C>T (p.Pro307Leu)
c.1331C>T (p.Pro444Leu)
c.2432C>T (p.Pro811Leu)
c.2519C>T (p.Pro840Leu)
c.2450C>T (p.Pro817Leu)
c.1982C>T (p.Pro661Leu)
Xg.41524000G>CCA412989187CASKc.2504C>G (p.Pro835Arg)
c.2501C>G (p.Pro834Arg)
c.2555C>G (p.Pro852Arg)
c.2453C>G (p.Pro818Arg)
c.2558C>G (p.Pro853Arg)
c.1175C>G (p.Pro392Arg)
c.2486C>G (p.Pro829Arg)
c.2417C>G (p.Pro806Arg)
n.1334C>G
n.714C>G
c.327C>G
c.2537C>G (p.Pro846Arg)
c.2468C>G (p.Pro823Arg)
c.2540C>G (p.Pro847Arg)
n.2786C>G
c.2642C>G (p.Pro881Arg)
c.1877C>G (p.Pro626Arg)
c.2471C>G (p.Pro824Arg)
c.2489C>G (p.Pro830Arg)
c.920C>G (p.Pro307Arg)
c.1331C>G (p.Pro444Arg)
c.2432C>G (p.Pro811Arg)
c.2519C>G (p.Pro840Arg)
c.2450C>G (p.Pro817Arg)
c.1982C>G (p.Pro661Arg)
Xg.41524000G>TCA412989188CASKc.2504C>A (p.Pro835His)
c.2501C>A (p.Pro834His)
c.2555C>A (p.Pro852His)
c.2453C>A (p.Pro818His)
c.2558C>A (p.Pro853His)
c.1175C>A (p.Pro392His)
c.2486C>A (p.Pro829His)
c.2417C>A (p.Pro806His)
n.1334C>A
n.714C>A
c.327C>A
c.2537C>A (p.Pro846His)
c.2468C>A (p.Pro823His)
c.2540C>A (p.Pro847His)
n.2786C>A
c.2642C>A (p.Pro881His)
c.1877C>A (p.Pro626His)
c.2471C>A (p.Pro824His)
c.2489C>A (p.Pro830His)
c.920C>A (p.Pro307His)
c.1331C>A (p.Pro444His)
c.2432C>A (p.Pro811His)
c.2519C>A (p.Pro840His)
c.2450C>A (p.Pro817His)
c.1982C>A (p.Pro661His)
Xg.41524001G>ACA412989193CASKc.2503C>T (p.Pro835Ser)
c.2500C>T (p.Pro834Ser)
c.2554C>T (p.Pro852Ser)
c.2452C>T (p.Pro818Ser)
c.2557C>T (p.Pro853Ser)
c.1174C>T (p.Pro392Ser)
c.2485C>T (p.Pro829Ser)
c.2416C>T (p.Pro806Ser)
n.1333C>T
n.713C>T
c.326C>T
c.2536C>T (p.Pro846Ser)
c.2467C>T (p.Pro823Ser)
c.2539C>T (p.Pro847Ser)
n.2785C>T
c.2641C>T (p.Pro881Ser)
c.1876C>T (p.Pro626Ser)
c.2470C>T (p.Pro824Ser)
c.2488C>T (p.Pro830Ser)
c.919C>T (p.Pro307Ser)
c.1330C>T (p.Pro444Ser)
c.2431C>T (p.Pro811Ser)
c.2518C>T (p.Pro840Ser)
c.2449C>T (p.Pro817Ser)
c.1981C>T (p.Pro661Ser)
Xg.41524001G>CCA412989192CASKc.2503C>G (p.Pro835Ala)
c.2500C>G (p.Pro834Ala)
c.2554C>G (p.Pro852Ala)
c.2452C>G (p.Pro818Ala)
c.2557C>G (p.Pro853Ala)
c.1174C>G (p.Pro392Ala)
c.2485C>G (p.Pro829Ala)
c.2416C>G (p.Pro806Ala)
n.1333C>G
n.713C>G
c.326C>G
c.2536C>G (p.Pro846Ala)
c.2467C>G (p.Pro823Ala)
c.2539C>G (p.Pro847Ala)
n.2785C>G
c.2641C>G (p.Pro881Ala)
c.1876C>G (p.Pro626Ala)
c.2470C>G (p.Pro824Ala)
c.2488C>G (p.Pro830Ala)
c.919C>G (p.Pro307Ala)
c.1330C>G (p.Pro444Ala)
c.2431C>G (p.Pro811Ala)
c.2518C>G (p.Pro840Ala)
c.2449C>G (p.Pro817Ala)
c.1981C>G (p.Pro661Ala)
Xg.41524001G>TCA412989190CASKc.2503C>A (p.Pro835Thr)
c.2500C>A (p.Pro834Thr)
c.2554C>A (p.Pro852Thr)
c.2452C>A (p.Pro818Thr)
c.2557C>A (p.Pro853Thr)
c.1174C>A (p.Pro392Thr)
c.2485C>A (p.Pro829Thr)
c.2416C>A (p.Pro806Thr)
n.1333C>A
n.713C>A
c.326C>A
c.2536C>A (p.Pro846Thr)
c.2467C>A (p.Pro823Thr)
c.2539C>A (p.Pro847Thr)
n.2785C>A
c.2641C>A (p.Pro881Thr)
c.1876C>A (p.Pro626Thr)
c.2470C>A (p.Pro824Thr)
c.2488C>A (p.Pro830Thr)
c.919C>A (p.Pro307Thr)
c.1330C>A (p.Pro444Thr)
c.2431C>A (p.Pro811Thr)
c.2518C>A (p.Pro840Thr)
c.2449C>A (p.Pro817Thr)
c.1981C>A (p.Pro661Thr)
Xg.41524002A>CCA516098988CASKc.2502T>G (p.Ala834=)
c.2499T>G (p.Ala833=)
c.2553T>G (p.Ala851=)
c.2451T>G (p.Ala817=)
c.2556T>G (p.Ala852=)
c.1173T>G (p.Ala391=)
c.2484T>G (p.Ala828=)
c.2415T>G (p.Ala805=)
n.1332T>G
n.712T>G
c.325T>G
c.2535T>G (p.Ala845=)
c.2466T>G (p.Ala822=)
c.2538T>G (p.Ala846=)
n.2784T>G
c.2640T>G (p.Ala880=)
c.1875T>G (p.Ala625=)
c.2469T>G (p.Ala823=)
c.2487T>G (p.Ala829=)
c.918T>G (p.Ala306=)
c.1329T>G (p.Ala443=)
c.2430T>G (p.Ala810=)
c.2517T>G (p.Ala839=)
c.2448T>G (p.Ala816=)
c.1980T>G (p.Ala660=)
Xg.41524002A>GCA516098989CASKc.2502T>C (p.Ala834=)
c.2499T>C (p.Ala833=)
c.2553T>C (p.Ala851=)
c.2451T>C (p.Ala817=)
c.2556T>C (p.Ala852=)
c.1173T>C (p.Ala391=)
c.2484T>C (p.Ala828=)
c.2415T>C (p.Ala805=)
n.1332T>C
n.712T>C
c.325T>C
c.2535T>C (p.Ala845=)
c.2466T>C (p.Ala822=)
c.2538T>C (p.Ala846=)
n.2784T>C
c.2640T>C (p.Ala880=)
c.1875T>C (p.Ala625=)
c.2469T>C (p.Ala823=)
c.2487T>C (p.Ala829=)
c.918T>C (p.Ala306=)
c.1329T>C (p.Ala443=)
c.2430T>C (p.Ala810=)
c.2517T>C (p.Ala839=)
c.2448T>C (p.Ala816=)
c.1980T>C (p.Ala660=)
 gnomAD v4
Xg.41524002A>TCA516098990CASKc.2502T>A (p.Ala834=)
c.2499T>A (p.Ala833=)
c.2553T>A (p.Ala851=)
c.2451T>A (p.Ala817=)
c.2556T>A (p.Ala852=)
c.1173T>A (p.Ala391=)
c.2484T>A (p.Ala828=)
c.2415T>A (p.Ala805=)
n.1332T>A
n.712T>A
c.325T>A
c.2535T>A (p.Ala845=)
c.2466T>A (p.Ala822=)
c.2538T>A (p.Ala846=)
n.2784T>A
c.2640T>A (p.Ala880=)
c.1875T>A (p.Ala625=)
c.2469T>A (p.Ala823=)
c.2487T>A (p.Ala829=)
c.918T>A (p.Ala306=)
c.1329T>A (p.Ala443=)
c.2430T>A (p.Ala810=)
c.2517T>A (p.Ala839=)
c.2448T>A (p.Ala816=)
c.1980T>A (p.Ala660=)
Xg.41524003G>ACA412989195CASKc.2501C>T (p.Ala834Val)
c.2498C>T (p.Ala833Val)
c.2552C>T (p.Ala851Val)
c.2450C>T (p.Ala817Val)
c.2555C>T (p.Ala852Val)
c.1172C>T (p.Ala391Val)
c.2483C>T (p.Ala828Val)
c.2414C>T (p.Ala805Val)
n.1331C>T
n.711C>T
c.324C>T
c.2534C>T (p.Ala845Val)
c.2465C>T (p.Ala822Val)
c.2537C>T (p.Ala846Val)
n.2783C>T
c.2639C>T (p.Ala880Val)
c.1874C>T (p.Ala625Val)
c.2468C>T (p.Ala823Val)
c.2486C>T (p.Ala829Val)
c.917C>T (p.Ala306Val)
c.1328C>T (p.Ala443Val)
c.2429C>T (p.Ala810Val)
c.2516C>T (p.Ala839Val)
c.2447C>T (p.Ala816Val)
c.1979C>T (p.Ala660Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41524003G>CCA412989196CASKc.2501C>G (p.Ala834Gly)
c.2498C>G (p.Ala833Gly)
c.2552C>G (p.Ala851Gly)
c.2450C>G (p.Ala817Gly)
c.2555C>G (p.Ala852Gly)
c.1172C>G (p.Ala391Gly)
c.2483C>G (p.Ala828Gly)
c.2414C>G (p.Ala805Gly)
n.1331C>G
n.711C>G
c.324C>G
c.2534C>G (p.Ala845Gly)
c.2465C>G (p.Ala822Gly)
c.2537C>G (p.Ala846Gly)
n.2783C>G
c.2639C>G (p.Ala880Gly)
c.1874C>G (p.Ala625Gly)
c.2468C>G (p.Ala823Gly)
c.2486C>G (p.Ala829Gly)
c.917C>G (p.Ala306Gly)
c.1328C>G (p.Ala443Gly)
c.2429C>G (p.Ala810Gly)
c.2516C>G (p.Ala839Gly)
c.2447C>G (p.Ala816Gly)
c.1979C>G (p.Ala660Gly)
Xg.41524003G=CA2425945448CASKc.2501C= (p.Ala834=)
c.2498C= (p.Ala833=)
c.2552C= (p.Ala851=)
c.2450C= (p.Ala817=)
c.2555C= (p.Ala852=)
c.1172C= (p.Ala391=)
c.2483C= (p.Ala828=)
c.2414C= (p.Ala805=)
n.1331C=
n.711C=
c.324C=
c.2534C= (p.Ala845=)
c.2465C= (p.Ala822=)
c.2537C= (p.Ala846=)
n.2783C=
c.2639C= (p.Ala880=)
c.1874C= (p.Ala625=)
c.2468C= (p.Ala823=)
c.2486C= (p.Ala829=)
c.917C= (p.Ala306=)
c.1328C= (p.Ala443=)
c.2429C= (p.Ala810=)
c.2516C= (p.Ala839=)
c.2447C= (p.Ala816=)
c.1979C= (p.Ala660=)
Xg.41524003G>TCA412989198CASKc.2501C>A (p.Ala834Asp)
c.2498C>A (p.Ala833Asp)
c.2552C>A (p.Ala851Asp)
c.2450C>A (p.Ala817Asp)
c.2555C>A (p.Ala852Asp)
c.1172C>A (p.Ala391Asp)
c.2483C>A (p.Ala828Asp)
c.2414C>A (p.Ala805Asp)
n.1331C>A
n.711C>A
c.324C>A
c.2534C>A (p.Ala845Asp)
c.2465C>A (p.Ala822Asp)
c.2537C>A (p.Ala846Asp)
n.2783C>A
c.2639C>A (p.Ala880Asp)
c.1874C>A (p.Ala625Asp)
c.2468C>A (p.Ala823Asp)
c.2486C>A (p.Ala829Asp)
c.917C>A (p.Ala306Asp)
c.1328C>A (p.Ala443Asp)
c.2429C>A (p.Ala810Asp)
c.2516C>A (p.Ala839Asp)
c.2447C>A (p.Ala816Asp)
c.1979C>A (p.Ala660Asp)
 gnomAD v4
Xg.41524004C>ACA412989200CASKc.2500G>T (p.Ala834Ser)
c.2497G>T (p.Ala833Ser)
c.2551G>T (p.Ala851Ser)
c.2449G>T (p.Ala817Ser)
c.2554G>T (p.Ala852Ser)
c.1171G>T (p.Ala391Ser)
c.2482G>T (p.Ala828Ser)
c.2413G>T (p.Ala805Ser)
n.1330G>T
n.710G>T
c.323G>T
c.2533G>T (p.Ala845Ser)
c.2464G>T (p.Ala822Ser)
c.2536G>T (p.Ala846Ser)
n.2782G>T
c.2638G>T (p.Ala880Ser)
c.1873G>T (p.Ala625Ser)
c.2467G>T (p.Ala823Ser)
c.2485G>T (p.Ala829Ser)
c.916G>T (p.Ala306Ser)
c.1327G>T (p.Ala443Ser)
c.2428G>T (p.Ala810Ser)
c.2515G>T (p.Ala839Ser)
c.2446G>T (p.Ala816Ser)
c.1978G>T (p.Ala660Ser)
Xg.41524004C>GCA412989201CASKc.2500G>C (p.Ala834Pro)
c.2497G>C (p.Ala833Pro)
c.2551G>C (p.Ala851Pro)
c.2449G>C (p.Ala817Pro)
c.2554G>C (p.Ala852Pro)
c.1171G>C (p.Ala391Pro)
c.2482G>C (p.Ala828Pro)
c.2413G>C (p.Ala805Pro)
n.1330G>C
n.710G>C
c.323G>C
c.2533G>C (p.Ala845Pro)
c.2464G>C (p.Ala822Pro)
c.2536G>C (p.Ala846Pro)
n.2782G>C
c.2638G>C (p.Ala880Pro)
c.1873G>C (p.Ala625Pro)
c.2467G>C (p.Ala823Pro)
c.2485G>C (p.Ala829Pro)
c.916G>C (p.Ala306Pro)
c.1327G>C (p.Ala443Pro)
c.2428G>C (p.Ala810Pro)
c.2515G>C (p.Ala839Pro)
c.2446G>C (p.Ala816Pro)
c.1978G>C (p.Ala660Pro)
Xg.41524004C>TCA412989203CASKc.2500G>A (p.Ala834Thr)
c.2497G>A (p.Ala833Thr)
c.2551G>A (p.Ala851Thr)
c.2449G>A (p.Ala817Thr)
c.2554G>A (p.Ala852Thr)
c.1171G>A (p.Ala391Thr)
c.2482G>A (p.Ala828Thr)
c.2413G>A (p.Ala805Thr)
n.1330G>A
n.710G>A
c.323G>A
c.2533G>A (p.Ala845Thr)
c.2464G>A (p.Ala822Thr)
c.2536G>A (p.Ala846Thr)
n.2782G>A
c.2638G>A (p.Ala880Thr)
c.1873G>A (p.Ala625Thr)
c.2467G>A (p.Ala823Thr)
c.2485G>A (p.Ala829Thr)
c.916G>A (p.Ala306Thr)
c.1327G>A (p.Ala443Thr)
c.2428G>A (p.Ala810Thr)
c.2515G>A (p.Ala839Thr)
c.2446G>A (p.Ala816Thr)
c.1978G>A (p.Ala660Thr)
 gnomAD v4
Xg.41524004_41524006delinsCAACA2425945449CASKc.2498_2500delinsTTG (p.Phe833=)
c.2495_2497delinsTTG (p.Phe832=)
c.2549_2551delinsTTG (p.Phe850=)
c.2447_2449delinsTTG (p.Phe816=)
c.2552_2554delinsTTG (p.Phe851=)
c.1169_1171delinsTTG (p.Phe390=)
c.2480_2482delinsTTG (p.Phe827=)
c.2411_2413delinsTTG (p.Phe804=)
n.1328_1330delinsTTG
n.708_710delinsTTG
c.321_323delinsTTG
c.2531_2533delinsTTG (p.Phe844=)
c.2462_2464delinsTTG (p.Phe821=)
c.2534_2536delinsTTG (p.Phe845=)
n.2780_2782delinsTTG
c.2636_2638delinsTTG (p.Phe879=)
c.1871_1873delinsTTG (p.Phe624=)
c.2465_2467delinsTTG (p.Phe822=)
c.2483_2485delinsTTG (p.Phe828=)
c.914_916delinsTTG (p.Phe305=)
c.1325_1327delinsTTG (p.Phe442=)
c.2426_2428delinsTTG (p.Phe809=)
c.2513_2515delinsTTG (p.Phe838=)
c.2444_2446delinsTTG (p.Phe815=)
c.1976_1978delinsTTG (p.Phe659=)
Xg.41524005A>CCA412989206CASKc.2499T>G (p.Phe833Leu)
c.2496T>G (p.Phe832Leu)
c.2550T>G (p.Phe850Leu)
c.2448T>G (p.Phe816Leu)
c.2553T>G (p.Phe851Leu)
c.1170T>G (p.Phe390Leu)
c.2481T>G (p.Phe827Leu)
c.2412T>G (p.Phe804Leu)
n.1329T>G
n.709T>G
c.322T>G
c.2532T>G (p.Phe844Leu)
c.2463T>G (p.Phe821Leu)
c.2535T>G (p.Phe845Leu)
n.2781T>G
c.2637T>G (p.Phe879Leu)
c.1872T>G (p.Phe624Leu)
c.2466T>G (p.Phe822Leu)
c.2484T>G (p.Phe828Leu)
c.915T>G (p.Phe305Leu)
c.1326T>G (p.Phe442Leu)
c.2427T>G (p.Phe809Leu)
c.2514T>G (p.Phe838Leu)
c.2445T>G (p.Phe815Leu)
c.1977T>G (p.Phe659Leu)
Xg.41524005A>GCA516098991CASKc.2499T>C (p.Phe833=)
c.2496T>C (p.Phe832=)
c.2550T>C (p.Phe850=)
c.2448T>C (p.Phe816=)
c.2553T>C (p.Phe851=)
c.1170T>C (p.Phe390=)
c.2481T>C (p.Phe827=)
c.2412T>C (p.Phe804=)
n.1329T>C
n.709T>C
c.322T>C
c.2532T>C (p.Phe844=)
c.2463T>C (p.Phe821=)
c.2535T>C (p.Phe845=)
n.2781T>C
c.2637T>C (p.Phe879=)
c.1872T>C (p.Phe624=)
c.2466T>C (p.Phe822=)
c.2484T>C (p.Phe828=)
c.915T>C (p.Phe305=)
c.1326T>C (p.Phe442=)
c.2427T>C (p.Phe809=)
c.2514T>C (p.Phe838=)
c.2445T>C (p.Phe815=)
c.1977T>C (p.Phe659=)
 gnomAD v4 COSMIC
Xg.41524005A>TCA412989204CASKc.2499T>A (p.Phe833Leu)
c.2496T>A (p.Phe832Leu)
c.2550T>A (p.Phe850Leu)
c.2448T>A (p.Phe816Leu)
c.2553T>A (p.Phe851Leu)
c.1170T>A (p.Phe390Leu)
c.2481T>A (p.Phe827Leu)
c.2412T>A (p.Phe804Leu)
n.1329T>A
n.709T>A
c.322T>A
c.2532T>A (p.Phe844Leu)
c.2463T>A (p.Phe821Leu)
c.2535T>A (p.Phe845Leu)
n.2781T>A
c.2637T>A (p.Phe879Leu)
c.1872T>A (p.Phe624Leu)
c.2466T>A (p.Phe822Leu)
c.2484T>A (p.Phe828Leu)
c.915T>A (p.Phe305Leu)
c.1326T>A (p.Phe442Leu)
c.2427T>A (p.Phe809Leu)
c.2514T>A (p.Phe838Leu)
c.2445T>A (p.Phe815Leu)
c.1977T>A (p.Phe659Leu)
Xg.41524006_41524007delCA645372682CASKc.2498_2499del (p.Phe833CysfsTer18)
c.2495_2496del (p.Phe832CysfsTer18)
c.2549_2550del (p.Phe850CysfsTer18)
c.2447_2448del (p.Phe816CysfsTer18)
c.2552_2553del (p.Phe851CysfsTer18)
c.1169_1170del (p.Phe390CysfsTer18)
c.2480_2481del (p.Phe827CysfsTer18)
c.2411_2412del (p.Phe804CysfsTer18)
n.1328_1329del
n.708_709del
c.321_322del
c.2531_2532del (p.Phe844CysfsTer18)
c.2462_2463del (p.Phe821CysfsTer18)
c.2534_2535del (p.Phe845CysfsTer18)
n.2780_2781del
c.2636_2637del (p.Phe879CysfsTer18)
c.1871_1872del (p.Phe624CysfsTer18)
c.2465_2466del (p.Phe822CysfsTer18)
c.2483_2484del (p.Phe828CysfsTer18)
c.914_915del (p.Phe305CysfsTer18)
c.1325_1326del (p.Phe442CysfsTer18)
c.2426_2427del (p.Phe809CysfsTer18)
c.2513_2514del (p.Phe838CysfsTer18)
c.2444_2445del (p.Phe815CysfsTer18)
c.1976_1977del (p.Phe659CysfsTer18)
 ClinVar dbSNP
Xg.41524006A>CCA412989208CASKc.2498T>G (p.Phe833Cys)
c.2495T>G (p.Phe832Cys)
c.2549T>G (p.Phe850Cys)
c.2447T>G (p.Phe816Cys)
c.2552T>G (p.Phe851Cys)
c.1169T>G (p.Phe390Cys)
c.2480T>G (p.Phe827Cys)
c.2411T>G (p.Phe804Cys)
n.1328T>G
n.708T>G
c.321T>G
c.2531T>G (p.Phe844Cys)
c.2462T>G (p.Phe821Cys)
c.2534T>G (p.Phe845Cys)
n.2780T>G
c.2636T>G (p.Phe879Cys)
c.1871T>G (p.Phe624Cys)
c.2465T>G (p.Phe822Cys)
c.2483T>G (p.Phe828Cys)
c.914T>G (p.Phe305Cys)
c.1325T>G (p.Phe442Cys)
c.2426T>G (p.Phe809Cys)
c.2513T>G (p.Phe838Cys)
c.2444T>G (p.Phe815Cys)
c.1976T>G (p.Phe659Cys)
Xg.41524006A>GCA412989209CASKc.2498T>C (p.Phe833Ser)
c.2495T>C (p.Phe832Ser)
c.2549T>C (p.Phe850Ser)
c.2447T>C (p.Phe816Ser)
c.2552T>C (p.Phe851Ser)
c.1169T>C (p.Phe390Ser)
c.2480T>C (p.Phe827Ser)
c.2411T>C (p.Phe804Ser)
n.1328T>C
n.708T>C
c.321T>C
c.2531T>C (p.Phe844Ser)
c.2462T>C (p.Phe821Ser)
c.2534T>C (p.Phe845Ser)
n.2780T>C
c.2636T>C (p.Phe879Ser)
c.1871T>C (p.Phe624Ser)
c.2465T>C (p.Phe822Ser)
c.2483T>C (p.Phe828Ser)
c.914T>C (p.Phe305Ser)
c.1325T>C (p.Phe442Ser)
c.2426T>C (p.Phe809Ser)
c.2513T>C (p.Phe838Ser)
c.2444T>C (p.Phe815Ser)
c.1976T>C (p.Phe659Ser)
Xg.41524006A>TCA412989211CASKc.2498T>A (p.Phe833Tyr)
c.2495T>A (p.Phe832Tyr)
c.2549T>A (p.Phe850Tyr)
c.2447T>A (p.Phe816Tyr)
c.2552T>A (p.Phe851Tyr)
c.1169T>A (p.Phe390Tyr)
c.2480T>A (p.Phe827Tyr)
c.2411T>A (p.Phe804Tyr)
n.1328T>A
n.708T>A
c.321T>A
c.2531T>A (p.Phe844Tyr)
c.2462T>A (p.Phe821Tyr)
c.2534T>A (p.Phe845Tyr)
n.2780T>A
c.2636T>A (p.Phe879Tyr)
c.1871T>A (p.Phe624Tyr)
c.2465T>A (p.Phe822Tyr)
c.2483T>A (p.Phe828Tyr)
c.914T>A (p.Phe305Tyr)
c.1325T>A (p.Phe442Tyr)
c.2426T>A (p.Phe809Tyr)
c.2513T>A (p.Phe838Tyr)
c.2444T>A (p.Phe815Tyr)
c.1976T>A (p.Phe659Tyr)
Xg.41524007A>CCA412989213CASKc.2497T>G (p.Phe833Val)
c.2494T>G (p.Phe832Val)
c.2548T>G (p.Phe850Val)
c.2446T>G (p.Phe816Val)
c.2551T>G (p.Phe851Val)
c.1168T>G (p.Phe390Val)
c.2479T>G (p.Phe827Val)
c.2410T>G (p.Phe804Val)
n.1327T>G
n.707T>G
c.320T>G
c.2530T>G (p.Phe844Val)
c.2461T>G (p.Phe821Val)
c.2533T>G (p.Phe845Val)
n.2779T>G
c.2635T>G (p.Phe879Val)
c.1870T>G (p.Phe624Val)
c.2464T>G (p.Phe822Val)
c.2482T>G (p.Phe828Val)
c.913T>G (p.Phe305Val)
c.1324T>G (p.Phe442Val)
c.2425T>G (p.Phe809Val)
c.2512T>G (p.Phe838Val)
c.2443T>G (p.Phe815Val)
c.1975T>G (p.Phe659Val)
Xg.41524007A>GCA412989214CASKc.2497T>C (p.Phe833Leu)
c.2494T>C (p.Phe832Leu)
c.2548T>C (p.Phe850Leu)
c.2446T>C (p.Phe816Leu)
c.2551T>C (p.Phe851Leu)
c.1168T>C (p.Phe390Leu)
c.2479T>C (p.Phe827Leu)
c.2410T>C (p.Phe804Leu)
n.1327T>C
n.707T>C
c.320T>C
c.2530T>C (p.Phe844Leu)
c.2461T>C (p.Phe821Leu)
c.2533T>C (p.Phe845Leu)
n.2779T>C
c.2635T>C (p.Phe879Leu)
c.1870T>C (p.Phe624Leu)
c.2464T>C (p.Phe822Leu)
c.2482T>C (p.Phe828Leu)
c.913T>C (p.Phe305Leu)
c.1324T>C (p.Phe442Leu)
c.2425T>C (p.Phe809Leu)
c.2512T>C (p.Phe838Leu)
c.2443T>C (p.Phe815Leu)
c.1975T>C (p.Phe659Leu)
Xg.41524007A>TCA412989216CASKc.2497T>A (p.Phe833Ile)
c.2494T>A (p.Phe832Ile)
c.2548T>A (p.Phe850Ile)
c.2446T>A (p.Phe816Ile)
c.2551T>A (p.Phe851Ile)
c.1168T>A (p.Phe390Ile)
c.2479T>A (p.Phe827Ile)
c.2410T>A (p.Phe804Ile)
n.1327T>A
n.707T>A
c.320T>A
c.2530T>A (p.Phe844Ile)
c.2461T>A (p.Phe821Ile)
c.2533T>A (p.Phe845Ile)
n.2779T>A
c.2635T>A (p.Phe879Ile)
c.1870T>A (p.Phe624Ile)
c.2464T>A (p.Phe822Ile)
c.2482T>A (p.Phe828Ile)
c.913T>A (p.Phe305Ile)
c.1324T>A (p.Phe442Ile)
c.2425T>A (p.Phe809Ile)
c.2512T>A (p.Phe838Ile)
c.2443T>A (p.Phe815Ile)
c.1975T>A (p.Phe659Ile)
Xg.41524007_41524009delinsACTCA2425945450CASKc.2495_2497delinsAGT (p.Glu832=)
c.2492_2494delinsAGT (p.Glu831=)
c.2546_2548delinsAGT (p.Glu849=)
c.2444_2446delinsAGT (p.Glu815=)
c.2549_2551delinsAGT (p.Glu850=)
c.1166_1168delinsAGT (p.Glu389=)
c.2477_2479delinsAGT (p.Glu826=)
c.2408_2410delinsAGT (p.Glu803=)
n.1325_1327delinsAGT
n.705_707delinsAGT
c.318_320delinsAGT
c.2528_2530delinsAGT (p.Glu843=)
c.2459_2461delinsAGT (p.Glu820=)
c.2531_2533delinsAGT (p.Glu844=)
n.2777_2779delinsAGT
c.2633_2635delinsAGT (p.Glu878=)
c.1868_1870delinsAGT (p.Glu623=)
c.2462_2464delinsAGT (p.Glu821=)
c.2480_2482delinsAGT (p.Glu827=)
c.911_913delinsAGT (p.Glu304=)
c.1322_1324delinsAGT (p.Glu441=)
c.2423_2425delinsAGT (p.Glu808=)
c.2510_2512delinsAGT (p.Glu837=)
c.2441_2443delinsAGT (p.Glu814=)
c.1973_1975delinsAGT (p.Glu658=)
Xg.41524008C>ACA412989220CASKc.2496G>T (p.Glu832Asp)
c.2493G>T (p.Glu831Asp)
c.2547G>T (p.Glu849Asp)
c.2445G>T (p.Glu815Asp)
c.2550G>T (p.Glu850Asp)
c.1167G>T (p.Glu389Asp)
c.2478G>T (p.Glu826Asp)
c.2409G>T (p.Glu803Asp)
n.1326G>T
n.706G>T
c.319G>T
c.2529G>T (p.Glu843Asp)
c.2460G>T (p.Glu820Asp)
c.2532G>T (p.Glu844Asp)
n.2778G>T
c.2634G>T (p.Glu878Asp)
c.1869G>T (p.Glu623Asp)
c.2463G>T (p.Glu821Asp)
c.2481G>T (p.Glu827Asp)
c.912G>T (p.Glu304Asp)
c.1323G>T (p.Glu441Asp)
c.2424G>T (p.Glu808Asp)
c.2511G>T (p.Glu837Asp)
c.2442G>T (p.Glu814Asp)
c.1974G>T (p.Glu658Asp)
 gnomAD v3 gnomAD v4
Xg.41524008C=CA2425945451CASKc.2496G= (p.Glu832=)
c.2493G= (p.Glu831=)
c.2547G= (p.Glu849=)
c.2445G= (p.Glu815=)
c.2550G= (p.Glu850=)
c.1167G= (p.Glu389=)
c.2478G= (p.Glu826=)
c.2409G= (p.Glu803=)
n.1326G=
n.706G=
c.319G=
c.2529G= (p.Glu843=)
c.2460G= (p.Glu820=)
c.2532G= (p.Glu844=)
n.2778G=
c.2634G= (p.Glu878=)
c.1869G= (p.Glu623=)
c.2463G= (p.Glu821=)
c.2481G= (p.Glu827=)
c.912G= (p.Glu304=)
c.1323G= (p.Glu441=)
c.2424G= (p.Glu808=)
c.2511G= (p.Glu837=)
c.2442G= (p.Glu814=)
c.1974G= (p.Glu658=)
Xg.41524008C>GCA412989218CASKc.2496G>C (p.Glu832Asp)
c.2493G>C (p.Glu831Asp)
c.2547G>C (p.Glu849Asp)
c.2445G>C (p.Glu815Asp)
c.2550G>C (p.Glu850Asp)
c.1167G>C (p.Glu389Asp)
c.2478G>C (p.Glu826Asp)
c.2409G>C (p.Glu803Asp)
n.1326G>C
n.706G>C
c.319G>C
c.2529G>C (p.Glu843Asp)
c.2460G>C (p.Glu820Asp)
c.2532G>C (p.Glu844Asp)
n.2778G>C
c.2634G>C (p.Glu878Asp)
c.1869G>C (p.Glu623Asp)
c.2463G>C (p.Glu821Asp)
c.2481G>C (p.Glu827Asp)
c.912G>C (p.Glu304Asp)
c.1323G>C (p.Glu441Asp)
c.2424G>C (p.Glu808Asp)
c.2511G>C (p.Glu837Asp)
c.2442G>C (p.Glu814Asp)
c.1974G>C (p.Glu658Asp)
Xg.41524008C>TCA516098992CASKc.2496G>A (p.Glu832=)
c.2493G>A (p.Glu831=)
c.2547G>A (p.Glu849=)
c.2445G>A (p.Glu815=)
c.2550G>A (p.Glu850=)
c.1167G>A (p.Glu389=)
c.2478G>A (p.Glu826=)
c.2409G>A (p.Glu803=)
n.1326G>A
n.706G>A
c.319G>A
c.2529G>A (p.Glu843=)
c.2460G>A (p.Glu820=)
c.2532G>A (p.Glu844=)
n.2778G>A
c.2634G>A (p.Glu878=)
c.1869G>A (p.Glu623=)
c.2463G>A (p.Glu821=)
c.2481G>A (p.Glu827=)
c.912G>A (p.Glu304=)
c.1323G>A (p.Glu441=)
c.2424G>A (p.Glu808=)
c.2511G>A (p.Glu837=)
c.2442G>A (p.Glu814=)
c.1974G>A (p.Glu658=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41524010_41524011delCA251314CASKc.2495_2496del (p.Glu832ValfsTer19)
c.2492_2493del (p.Glu831ValfsTer19)
c.2546_2547del (p.Glu849ValfsTer19)
c.2444_2445del (p.Glu815ValfsTer19)
c.2549_2550del (p.Glu850ValfsTer19)
c.1166_1167del (p.Glu389ValfsTer19)
c.2477_2478del (p.Glu826ValfsTer19)
c.2408_2409del (p.Glu803ValfsTer19)
n.1325_1326del
n.705_706del
c.318_319del
c.2528_2529del (p.Glu843ValfsTer19)
c.2459_2460del (p.Glu820ValfsTer19)
c.2531_2532del (p.Glu844ValfsTer19)
n.2777_2778del
c.2633_2634del (p.Glu878ValfsTer19)
c.1868_1869del (p.Glu623ValfsTer19)
c.2462_2463del (p.Glu821ValfsTer19)
c.2480_2481del (p.Glu827ValfsTer19)
c.911_912del (p.Glu304ValfsTer19)
c.1322_1323del (p.Glu441ValfsTer19)
c.2423_2424del (p.Glu808ValfsTer19)
c.2510_2511del (p.Glu837ValfsTer19)
c.2441_2442del (p.Glu814ValfsTer19)
c.1973_1974del (p.Glu658ValfsTer19)
 ClinVar dbSNP
Xg.41524009T>ACA412989222CASKc.2495A>T (p.Glu832Val)
c.2492A>T (p.Glu831Val)
c.2546A>T (p.Glu849Val)
c.2444A>T (p.Glu815Val)
c.2549A>T (p.Glu850Val)
c.1166A>T (p.Glu389Val)
c.2477A>T (p.Glu826Val)
c.2408A>T (p.Glu803Val)
n.1325A>T
n.705A>T
c.318A>T
c.2528A>T (p.Glu843Val)
c.2459A>T (p.Glu820Val)
c.2531A>T (p.Glu844Val)
n.2777A>T
c.2633A>T (p.Glu878Val)
c.1868A>T (p.Glu623Val)
c.2462A>T (p.Glu821Val)
c.2480A>T (p.Glu827Val)
c.911A>T (p.Glu304Val)
c.1322A>T (p.Glu441Val)
c.2423A>T (p.Glu808Val)
c.2510A>T (p.Glu837Val)
c.2441A>T (p.Glu814Val)
c.1973A>T (p.Glu658Val)
 gnomAD v4
Xg.41524009T>CCA412989223CASKc.2495A>G (p.Glu832Gly)
c.2492A>G (p.Glu831Gly)
c.2546A>G (p.Glu849Gly)
c.2444A>G (p.Glu815Gly)
c.2549A>G (p.Glu850Gly)
c.1166A>G (p.Glu389Gly)
c.2477A>G (p.Glu826Gly)
c.2408A>G (p.Glu803Gly)
n.1325A>G
n.705A>G
c.318A>G
c.2528A>G (p.Glu843Gly)
c.2459A>G (p.Glu820Gly)
c.2531A>G (p.Glu844Gly)
n.2777A>G
c.2633A>G (p.Glu878Gly)
c.1868A>G (p.Glu623Gly)
c.2462A>G (p.Glu821Gly)
c.2480A>G (p.Glu827Gly)
c.911A>G (p.Glu304Gly)
c.1322A>G (p.Glu441Gly)
c.2423A>G (p.Glu808Gly)
c.2510A>G (p.Glu837Gly)
c.2441A>G (p.Glu814Gly)
c.1973A>G (p.Glu658Gly)
Xg.41524009T>GCA412989225CASKc.2495A>C (p.Glu832Ala)
c.2492A>C (p.Glu831Ala)
c.2546A>C (p.Glu849Ala)
c.2444A>C (p.Glu815Ala)
c.2549A>C (p.Glu850Ala)
c.1166A>C (p.Glu389Ala)
c.2477A>C (p.Glu826Ala)
c.2408A>C (p.Glu803Ala)
n.1325A>C
n.705A>C
c.318A>C
c.2528A>C (p.Glu843Ala)
c.2459A>C (p.Glu820Ala)
c.2531A>C (p.Glu844Ala)
n.2777A>C
c.2633A>C (p.Glu878Ala)
c.1868A>C (p.Glu623Ala)
c.2462A>C (p.Glu821Ala)
c.2480A>C (p.Glu827Ala)
c.911A>C (p.Glu304Ala)
c.1322A>C (p.Glu441Ala)
c.2423A>C (p.Glu808Ala)
c.2510A>C (p.Glu837Ala)
c.2441A>C (p.Glu814Ala)
c.1973A>C (p.Glu658Ala)
Xg.41524010C>ACA412989227CASKc.2494G>T (p.Glu832Ter)
c.2491G>T (p.Glu831Ter)
c.2545G>T (p.Glu849Ter)
c.2443G>T (p.Glu815Ter)
c.2548G>T (p.Glu850Ter)
c.1165G>T (p.Glu389Ter)
c.2476G>T (p.Glu826Ter)
c.2407G>T (p.Glu803Ter)
n.1324G>T
n.704G>T
c.317G>T
c.2527G>T (p.Glu843Ter)
c.2458G>T (p.Glu820Ter)
c.2530G>T (p.Glu844Ter)
n.2776G>T
c.2632G>T (p.Glu878Ter)
c.1867G>T (p.Glu623Ter)
c.2461G>T (p.Glu821Ter)
c.2479G>T (p.Glu827Ter)
c.910G>T (p.Glu304Ter)
c.1321G>T (p.Glu441Ter)
c.2422G>T (p.Glu808Ter)
c.2509G>T (p.Glu837Ter)
c.2440G>T (p.Glu814Ter)
c.1972G>T (p.Glu658Ter)
 gnomAD v4
Xg.41524010C>GCA412989229CASKc.2494G>C (p.Glu832Gln)
c.2491G>C (p.Glu831Gln)
c.2545G>C (p.Glu849Gln)
c.2443G>C (p.Glu815Gln)
c.2548G>C (p.Glu850Gln)
c.1165G>C (p.Glu389Gln)
c.2476G>C (p.Glu826Gln)
c.2407G>C (p.Glu803Gln)
n.1324G>C
n.704G>C
c.317G>C
c.2527G>C (p.Glu843Gln)
c.2458G>C (p.Glu820Gln)
c.2530G>C (p.Glu844Gln)
n.2776G>C
c.2632G>C (p.Glu878Gln)
c.1867G>C (p.Glu623Gln)
c.2461G>C (p.Glu821Gln)
c.2479G>C (p.Glu827Gln)
c.910G>C (p.Glu304Gln)
c.1321G>C (p.Glu441Gln)
c.2422G>C (p.Glu808Gln)
c.2509G>C (p.Glu837Gln)
c.2440G>C (p.Glu814Gln)
c.1972G>C (p.Glu658Gln)
Xg.41524010C>TCA412989230CASKc.2494G>A (p.Glu832Lys)
c.2491G>A (p.Glu831Lys)
c.2545G>A (p.Glu849Lys)
c.2443G>A (p.Glu815Lys)
c.2548G>A (p.Glu850Lys)
c.1165G>A (p.Glu389Lys)
c.2476G>A (p.Glu826Lys)
c.2407G>A (p.Glu803Lys)
n.1324G>A
n.704G>A
c.317G>A
c.2527G>A (p.Glu843Lys)
c.2458G>A (p.Glu820Lys)
c.2530G>A (p.Glu844Lys)
n.2776G>A
c.2632G>A (p.Glu878Lys)
c.1867G>A (p.Glu623Lys)
c.2461G>A (p.Glu821Lys)
c.2479G>A (p.Glu827Lys)
c.910G>A (p.Glu304Lys)
c.1321G>A (p.Glu441Lys)
c.2422G>A (p.Glu808Lys)
c.2509G>A (p.Glu837Lys)
c.2440G>A (p.Glu814Lys)
c.1972G>A (p.Glu658Lys)
Xg.41524011T>ACA516098995CASKc.2493A>T (p.Ala831=)
c.2490A>T (p.Ala830=)
c.2544A>T (p.Ala848=)
c.2442A>T (p.Ala814=)
c.2547A>T (p.Ala849=)
c.1164A>T (p.Ala388=)
c.2475A>T (p.Ala825=)
c.2406A>T (p.Ala802=)
n.1323A>T
n.703A>T
c.316A>T
c.2526A>T (p.Ala842=)
c.2457A>T (p.Ala819=)
c.2529A>T (p.Ala843=)
n.2775A>T
c.2631A>T (p.Ala877=)
c.1866A>T (p.Ala622=)
c.2460A>T (p.Ala820=)
c.2478A>T (p.Ala826=)
c.909A>T (p.Ala303=)
c.1320A>T (p.Ala440=)
c.2421A>T (p.Ala807=)
c.2508A>T (p.Ala836=)
c.2439A>T (p.Ala813=)
c.1971A>T (p.Ala657=)
Xg.41524011T>CCA516098993CASKc.2493A>G (p.Ala831=)
c.2490A>G (p.Ala830=)
c.2544A>G (p.Ala848=)
c.2442A>G (p.Ala814=)
c.2547A>G (p.Ala849=)
c.1164A>G (p.Ala388=)
c.2475A>G (p.Ala825=)
c.2406A>G (p.Ala802=)
n.1323A>G
n.703A>G
c.316A>G
c.2526A>G (p.Ala842=)
c.2457A>G (p.Ala819=)
c.2529A>G (p.Ala843=)
n.2775A>G
c.2631A>G (p.Ala877=)
c.1866A>G (p.Ala622=)
c.2460A>G (p.Ala820=)
c.2478A>G (p.Ala826=)
c.909A>G (p.Ala303=)
c.1320A>G (p.Ala440=)
c.2421A>G (p.Ala807=)
c.2508A>G (p.Ala836=)
c.2439A>G (p.Ala813=)
c.1971A>G (p.Ala657=)
Xg.41524011T>GCA516098994CASKc.2493A>C (p.Ala831=)
c.2490A>C (p.Ala830=)
c.2544A>C (p.Ala848=)
c.2442A>C (p.Ala814=)
c.2547A>C (p.Ala849=)
c.1164A>C (p.Ala388=)
c.2475A>C (p.Ala825=)
c.2406A>C (p.Ala802=)
n.1323A>C
n.703A>C
c.316A>C
c.2526A>C (p.Ala842=)
c.2457A>C (p.Ala819=)
c.2529A>C (p.Ala843=)
n.2775A>C
c.2631A>C (p.Ala877=)
c.1866A>C (p.Ala622=)
c.2460A>C (p.Ala820=)
c.2478A>C (p.Ala826=)
c.909A>C (p.Ala303=)
c.1320A>C (p.Ala440=)
c.2421A>C (p.Ala807=)
c.2508A>C (p.Ala836=)
c.2439A>C (p.Ala813=)
c.1971A>C (p.Ala657=)
Xg.41524012G>ACA412989232CASKc.2492C>T (p.Ala831Val)
c.2489C>T (p.Ala830Val)
c.2543C>T (p.Ala848Val)
c.2441C>T (p.Ala814Val)
c.2546C>T (p.Ala849Val)
c.1163C>T (p.Ala388Val)
c.2474C>T (p.Ala825Val)
c.2405C>T (p.Ala802Val)
n.1322C>T
n.702C>T
c.315C>T
c.2525C>T (p.Ala842Val)
c.2456C>T (p.Ala819Val)
c.2528C>T (p.Ala843Val)
n.2774C>T
c.2630C>T (p.Ala877Val)
c.1865C>T (p.Ala622Val)
c.2459C>T (p.Ala820Val)
c.2477C>T (p.Ala826Val)
c.908C>T (p.Ala303Val)
c.1319C>T (p.Ala440Val)
c.2420C>T (p.Ala807Val)
c.2507C>T (p.Ala836Val)
c.2438C>T (p.Ala813Val)
c.1970C>T (p.Ala657Val)
 gnomAD v4
Xg.41524012G>CCA412989233CASKc.2492C>G (p.Ala831Gly)
c.2489C>G (p.Ala830Gly)
c.2543C>G (p.Ala848Gly)
c.2441C>G (p.Ala814Gly)
c.2546C>G (p.Ala849Gly)
c.1163C>G (p.Ala388Gly)
c.2474C>G (p.Ala825Gly)
c.2405C>G (p.Ala802Gly)
n.1322C>G
n.702C>G
c.315C>G
c.2525C>G (p.Ala842Gly)
c.2456C>G (p.Ala819Gly)
c.2528C>G (p.Ala843Gly)
n.2774C>G
c.2630C>G (p.Ala877Gly)
c.1865C>G (p.Ala622Gly)
c.2459C>G (p.Ala820Gly)
c.2477C>G (p.Ala826Gly)
c.908C>G (p.Ala303Gly)
c.1319C>G (p.Ala440Gly)
c.2420C>G (p.Ala807Gly)
c.2507C>G (p.Ala836Gly)
c.2438C>G (p.Ala813Gly)
c.1970C>G (p.Ala657Gly)
Xg.41524012G>TCA412989235CASKc.2492C>A (p.Ala831Glu)
c.2489C>A (p.Ala830Glu)
c.2543C>A (p.Ala848Glu)
c.2441C>A (p.Ala814Glu)
c.2546C>A (p.Ala849Glu)
c.1163C>A (p.Ala388Glu)
c.2474C>A (p.Ala825Glu)
c.2405C>A (p.Ala802Glu)
n.1322C>A
n.702C>A
c.315C>A
c.2525C>A (p.Ala842Glu)
c.2456C>A (p.Ala819Glu)
c.2528C>A (p.Ala843Glu)
n.2774C>A
c.2630C>A (p.Ala877Glu)
c.1865C>A (p.Ala622Glu)
c.2459C>A (p.Ala820Glu)
c.2477C>A (p.Ala826Glu)
c.908C>A (p.Ala303Glu)
c.1319C>A (p.Ala440Glu)
c.2420C>A (p.Ala807Glu)
c.2507C>A (p.Ala836Glu)
c.2438C>A (p.Ala813Glu)
c.1970C>A (p.Ala657Glu)
Xg.41524013delCA2693493302CASKc.2491del (p.Ala831GlnfsTer19)
c.2488del (p.Ala830GlnfsTer19)
c.2542del (p.Ala848GlnfsTer19)
c.2440del (p.Ala814GlnfsTer19)
c.2545del (p.Ala849GlnfsTer19)
c.1162del (p.Ala388GlnfsTer19)
c.2473del (p.Ala825GlnfsTer19)
c.2404del (p.Ala802GlnfsTer19)
n.1321del
n.701del
c.314del
c.2524del (p.Ala842GlnfsTer19)
c.2455del (p.Ala819GlnfsTer19)
c.2527del (p.Ala843GlnfsTer19)
n.2773del
c.2629del (p.Ala877GlnfsTer19)
c.1864del (p.Ala622GlnfsTer19)
c.2458del (p.Ala820GlnfsTer19)
c.2476del (p.Ala826GlnfsTer19)
c.907del (p.Ala303GlnfsTer19)
c.1318del (p.Ala440GlnfsTer19)
c.2419del (p.Ala807GlnfsTer19)
c.2506del (p.Ala836GlnfsTer19)
c.2437del (p.Ala813GlnfsTer19)
c.1969del (p.Ala657GlnfsTer19)
 gnomAD v4
Xg.41524013C>ACA412989237CASKc.2491G>T (p.Ala831Ser)
c.2488G>T (p.Ala830Ser)
c.2542G>T (p.Ala848Ser)
c.2440G>T (p.Ala814Ser)
c.2545G>T (p.Ala849Ser)
c.1162G>T (p.Ala388Ser)
c.2473G>T (p.Ala825Ser)
c.2404G>T (p.Ala802Ser)
n.1321G>T
n.701G>T
c.314G>T
c.2524G>T (p.Ala842Ser)
c.2455G>T (p.Ala819Ser)
c.2527G>T (p.Ala843Ser)
n.2773G>T
c.2629G>T (p.Ala877Ser)
c.1864G>T (p.Ala622Ser)
c.2458G>T (p.Ala820Ser)
c.2476G>T (p.Ala826Ser)
c.907G>T (p.Ala303Ser)
c.1318G>T (p.Ala440Ser)
c.2419G>T (p.Ala807Ser)
c.2506G>T (p.Ala836Ser)
c.2437G>T (p.Ala813Ser)
c.1969G>T (p.Ala657Ser)
 gnomAD v4
Xg.41524013C>GCA412989238CASKc.2491G>C (p.Ala831Pro)
c.2488G>C (p.Ala830Pro)
c.2542G>C (p.Ala848Pro)
c.2440G>C (p.Ala814Pro)
c.2545G>C (p.Ala849Pro)
c.1162G>C (p.Ala388Pro)
c.2473G>C (p.Ala825Pro)
c.2404G>C (p.Ala802Pro)
n.1321G>C
n.701G>C
c.314G>C
c.2524G>C (p.Ala842Pro)
c.2455G>C (p.Ala819Pro)
c.2527G>C (p.Ala843Pro)
n.2773G>C
c.2629G>C (p.Ala877Pro)
c.1864G>C (p.Ala622Pro)
c.2458G>C (p.Ala820Pro)
c.2476G>C (p.Ala826Pro)
c.907G>C (p.Ala303Pro)
c.1318G>C (p.Ala440Pro)
c.2419G>C (p.Ala807Pro)
c.2506G>C (p.Ala836Pro)
c.2437G>C (p.Ala813Pro)
c.1969G>C (p.Ala657Pro)
Xg.41524013C>TCA412989239CASKc.2491G>A (p.Ala831Thr)
c.2488G>A (p.Ala830Thr)
c.2542G>A (p.Ala848Thr)
c.2440G>A (p.Ala814Thr)
c.2545G>A (p.Ala849Thr)
c.1162G>A (p.Ala388Thr)
c.2473G>A (p.Ala825Thr)
c.2404G>A (p.Ala802Thr)
n.1321G>A
n.701G>A
c.314G>A
c.2524G>A (p.Ala842Thr)
c.2455G>A (p.Ala819Thr)
c.2527G>A (p.Ala843Thr)
n.2773G>A
c.2629G>A (p.Ala877Thr)
c.1864G>A (p.Ala622Thr)
c.2458G>A (p.Ala820Thr)
c.2476G>A (p.Ala826Thr)
c.907G>A (p.Ala303Thr)
c.1318G>A (p.Ala440Thr)
c.2419G>A (p.Ala807Thr)
c.2506G>A (p.Ala836Thr)
c.2437G>A (p.Ala813Thr)
c.1969G>A (p.Ala657Thr)
 gnomAD v4
Xg.41524014A=CA2425945452CASKc.2490T= (p.Thr830=)
c.2487T= (p.Thr829=)
c.2541T= (p.Thr847=)
c.2439T= (p.Thr813=)
c.2544T= (p.Thr848=)
c.1161T= (p.Thr387=)
c.2472T= (p.Thr824=)
c.2403T= (p.Thr801=)
n.1320T=
n.700T=
c.313T=
c.2523T= (p.Thr841=)
c.2454T= (p.Thr818=)
c.2526T= (p.Thr842=)
n.2772T=
c.2628T= (p.Thr876=)
c.1863T= (p.Thr621=)
c.2457T= (p.Thr819=)
c.2475T= (p.Thr825=)
c.906T= (p.Thr302=)
c.1317T= (p.Thr439=)
c.2418T= (p.Thr806=)
c.2505T= (p.Thr835=)
c.2436T= (p.Thr812=)
c.1968T= (p.Thr656=)
Xg.41524014A>CCA516098997CASKc.2490T>G (p.Thr830=)
c.2487T>G (p.Thr829=)
c.2541T>G (p.Thr847=)
c.2439T>G (p.Thr813=)
c.2544T>G (p.Thr848=)
c.1161T>G (p.Thr387=)
c.2472T>G (p.Thr824=)
c.2403T>G (p.Thr801=)
n.1320T>G
n.700T>G
c.313T>G
c.2523T>G (p.Thr841=)
c.2454T>G (p.Thr818=)
c.2526T>G (p.Thr842=)
n.2772T>G
c.2628T>G (p.Thr876=)
c.1863T>G (p.Thr621=)
c.2457T>G (p.Thr819=)
c.2475T>G (p.Thr825=)
c.906T>G (p.Thr302=)
c.1317T>G (p.Thr439=)
c.2418T>G (p.Thr806=)
c.2505T>G (p.Thr835=)
c.2436T>G (p.Thr812=)
c.1968T>G (p.Thr656=)
Xg.41524014A>GCA10389983CASKc.2490T>C (p.Thr830=)
c.2487T>C (p.Thr829=)
c.2541T>C (p.Thr847=)
c.2439T>C (p.Thr813=)
c.2544T>C (p.Thr848=)
c.1161T>C (p.Thr387=)
c.2472T>C (p.Thr824=)
c.2403T>C (p.Thr801=)
n.1320T>C
n.700T>C
c.313T>C
c.2523T>C (p.Thr841=)
c.2454T>C (p.Thr818=)
c.2526T>C (p.Thr842=)
n.2772T>C
c.2628T>C (p.Thr876=)
c.1863T>C (p.Thr621=)
c.2457T>C (p.Thr819=)
c.2475T>C (p.Thr825=)
c.906T>C (p.Thr302=)
c.1317T>C (p.Thr439=)
c.2418T>C (p.Thr806=)
c.2505T>C (p.Thr835=)
c.2436T>C (p.Thr812=)
c.1968T>C (p.Thr656=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41524014A>TCA516098998CASKc.2490T>A (p.Thr830=)
c.2487T>A (p.Thr829=)
c.2541T>A (p.Thr847=)
c.2439T>A (p.Thr813=)
c.2544T>A (p.Thr848=)
c.1161T>A (p.Thr387=)
c.2472T>A (p.Thr824=)
c.2403T>A (p.Thr801=)
n.1320T>A
n.700T>A
c.313T>A
c.2523T>A (p.Thr841=)
c.2454T>A (p.Thr818=)
c.2526T>A (p.Thr842=)
n.2772T>A
c.2628T>A (p.Thr876=)
c.1863T>A (p.Thr621=)
c.2457T>A (p.Thr819=)
c.2475T>A (p.Thr825=)
c.906T>A (p.Thr302=)
c.1317T>A (p.Thr439=)
c.2418T>A (p.Thr806=)
c.2505T>A (p.Thr835=)
c.2436T>A (p.Thr812=)
c.1968T>A (p.Thr656=)
Xg.41524015G>ACA412989242CASKc.2489C>T (p.Thr830Ile)
c.2486C>T (p.Thr829Ile)
c.2540C>T (p.Thr847Ile)
c.2438C>T (p.Thr813Ile)
c.2543C>T (p.Thr848Ile)
c.1160C>T (p.Thr387Ile)
c.2471C>T (p.Thr824Ile)
c.2402C>T (p.Thr801Ile)
n.1319C>T
n.699C>T
c.312C>T
c.2522C>T (p.Thr841Ile)
c.2453C>T (p.Thr818Ile)
c.2525C>T (p.Thr842Ile)
n.2771C>T
c.2627C>T (p.Thr876Ile)
c.1862C>T (p.Thr621Ile)
c.2456C>T (p.Thr819Ile)
c.2474C>T (p.Thr825Ile)
c.905C>T (p.Thr302Ile)
c.1316C>T (p.Thr439Ile)
c.2417C>T (p.Thr806Ile)
c.2504C>T (p.Thr835Ile)
c.2435C>T (p.Thr812Ile)
c.1967C>T (p.Thr656Ile)
 ClinVar dbSNP gnomAD v4
Xg.41524015G>CCA412989245CASKc.2489C>G (p.Thr830Ser)
c.2486C>G (p.Thr829Ser)
c.2540C>G (p.Thr847Ser)
c.2438C>G (p.Thr813Ser)
c.2543C>G (p.Thr848Ser)
c.1160C>G (p.Thr387Ser)
c.2471C>G (p.Thr824Ser)
c.2402C>G (p.Thr801Ser)
n.1319C>G
n.699C>G
c.312C>G
c.2522C>G (p.Thr841Ser)
c.2453C>G (p.Thr818Ser)
c.2525C>G (p.Thr842Ser)
n.2771C>G
c.2627C>G (p.Thr876Ser)
c.1862C>G (p.Thr621Ser)
c.2456C>G (p.Thr819Ser)
c.2474C>G (p.Thr825Ser)
c.905C>G (p.Thr302Ser)
c.1316C>G (p.Thr439Ser)
c.2417C>G (p.Thr806Ser)
c.2504C>G (p.Thr835Ser)
c.2435C>G (p.Thr812Ser)
c.1967C>G (p.Thr656Ser)
Xg.41524015G=CA2425945453CASKc.2489C= (p.Thr830=)
c.2486C= (p.Thr829=)
c.2540C= (p.Thr847=)
c.2438C= (p.Thr813=)
c.2543C= (p.Thr848=)
c.1160C= (p.Thr387=)
c.2471C= (p.Thr824=)
c.2402C= (p.Thr801=)
n.1319C=
n.699C=
c.312C=
c.2522C= (p.Thr841=)
c.2453C= (p.Thr818=)
c.2525C= (p.Thr842=)
n.2771C=
c.2627C= (p.Thr876=)
c.1862C= (p.Thr621=)
c.2456C= (p.Thr819=)
c.2474C= (p.Thr825=)
c.905C= (p.Thr302=)
c.1316C= (p.Thr439=)
c.2417C= (p.Thr806=)
c.2504C= (p.Thr835=)
c.2435C= (p.Thr812=)
c.1967C= (p.Thr656=)
Xg.41524015G>TCA412989243CASKc.2489C>A (p.Thr830Asn)
c.2486C>A (p.Thr829Asn)
c.2540C>A (p.Thr847Asn)
c.2438C>A (p.Thr813Asn)
c.2543C>A (p.Thr848Asn)
c.1160C>A (p.Thr387Asn)
c.2471C>A (p.Thr824Asn)
c.2402C>A (p.Thr801Asn)
n.1319C>A
n.699C>A
c.312C>A
c.2522C>A (p.Thr841Asn)
c.2453C>A (p.Thr818Asn)
c.2525C>A (p.Thr842Asn)
n.2771C>A
c.2627C>A (p.Thr876Asn)
c.1862C>A (p.Thr621Asn)
c.2456C>A (p.Thr819Asn)
c.2474C>A (p.Thr825Asn)
c.905C>A (p.Thr302Asn)
c.1316C>A (p.Thr439Asn)
c.2417C>A (p.Thr806Asn)
c.2504C>A (p.Thr835Asn)
c.2435C>A (p.Thr812Asn)
c.1967C>A (p.Thr656Asn)
 COSMIC COSMIC
Xg.41524016T>ACA412989247CASKc.2488A>T (p.Thr830Ser)
c.2485A>T (p.Thr829Ser)
c.2539A>T (p.Thr847Ser)
c.2437A>T (p.Thr813Ser)
c.2542A>T (p.Thr848Ser)
c.1159A>T (p.Thr387Ser)
c.2470A>T (p.Thr824Ser)
c.2401A>T (p.Thr801Ser)
n.1318A>T
n.698A>T
c.311A>T
c.2521A>T (p.Thr841Ser)
c.2452A>T (p.Thr818Ser)
c.2524A>T (p.Thr842Ser)
n.2770A>T
c.2626A>T (p.Thr876Ser)
c.1861A>T (p.Thr621Ser)
c.2455A>T (p.Thr819Ser)
c.2473A>T (p.Thr825Ser)
c.904A>T (p.Thr302Ser)
c.1315A>T (p.Thr439Ser)
c.2416A>T (p.Thr806Ser)
c.2503A>T (p.Thr835Ser)
c.2434A>T (p.Thr812Ser)
c.1966A>T (p.Thr656Ser)
Xg.41524016T>CCA412989249CASKc.2488A>G (p.Thr830Ala)
c.2485A>G (p.Thr829Ala)
c.2539A>G (p.Thr847Ala)
c.2437A>G (p.Thr813Ala)
c.2542A>G (p.Thr848Ala)
c.1159A>G (p.Thr387Ala)
c.2470A>G (p.Thr824Ala)
c.2401A>G (p.Thr801Ala)
n.1318A>G
n.698A>G
c.311A>G
c.2521A>G (p.Thr841Ala)
c.2452A>G (p.Thr818Ala)
c.2524A>G (p.Thr842Ala)
n.2770A>G
c.2626A>G (p.Thr876Ala)
c.1861A>G (p.Thr621Ala)
c.2455A>G (p.Thr819Ala)
c.2473A>G (p.Thr825Ala)
c.904A>G (p.Thr302Ala)
c.1315A>G (p.Thr439Ala)
c.2416A>G (p.Thr806Ala)
c.2503A>G (p.Thr835Ala)
c.2434A>G (p.Thr812Ala)
c.1966A>G (p.Thr656Ala)
 dbSNP gnomAD v4
Xg.41524016T>GCA412989250CASKc.2488A>C (p.Thr830Pro)
c.2485A>C (p.Thr829Pro)
c.2539A>C (p.Thr847Pro)
c.2437A>C (p.Thr813Pro)
c.2542A>C (p.Thr848Pro)
c.1159A>C (p.Thr387Pro)
c.2470A>C (p.Thr824Pro)
c.2401A>C (p.Thr801Pro)
n.1318A>C
n.698A>C
c.311A>C
c.2521A>C (p.Thr841Pro)
c.2452A>C (p.Thr818Pro)
c.2524A>C (p.Thr842Pro)
n.2770A>C
c.2626A>C (p.Thr876Pro)
c.1861A>C (p.Thr621Pro)
c.2455A>C (p.Thr819Pro)
c.2473A>C (p.Thr825Pro)
c.904A>C (p.Thr302Pro)
c.1315A>C (p.Thr439Pro)
c.2416A>C (p.Thr806Pro)
c.2503A>C (p.Thr835Pro)
c.2434A>C (p.Thr812Pro)
c.1966A>C (p.Thr656Pro)
Xg.41524016T=CA2425945454CASKc.2488A= (p.Thr830=)
c.2485A= (p.Thr829=)
c.2539A= (p.Thr847=)
c.2437A= (p.Thr813=)
c.2542A= (p.Thr848=)
c.1159A= (p.Thr387=)
c.2470A= (p.Thr824=)
c.2401A= (p.Thr801=)
n.1318A=
n.698A=
c.311A=
c.2521A= (p.Thr841=)
c.2452A= (p.Thr818=)
c.2524A= (p.Thr842=)
n.2770A=
c.2626A= (p.Thr876=)
c.1861A= (p.Thr621=)
c.2455A= (p.Thr819=)
c.2473A= (p.Thr825=)
c.904A= (p.Thr302=)
c.1315A= (p.Thr439=)
c.2416A= (p.Thr806=)
c.2503A= (p.Thr835=)
c.2434A= (p.Thr812=)
c.1966A= (p.Thr656=)
Xg.41524017T>ACA412989251CASKc.2487A>T (p.Arg829Ser)
c.2484A>T (p.Arg828Ser)
c.2538A>T (p.Arg846Ser)
c.2436A>T (p.Arg812Ser)
c.2541A>T (p.Arg847Ser)
c.1158A>T (p.Arg386Ser)
c.2469A>T (p.Arg823Ser)
c.2400A>T (p.Arg800Ser)
n.1317A>T
n.697A>T
c.310A>T
c.2520A>T (p.Arg840Ser)
c.2451A>T (p.Arg817Ser)
c.2523A>T (p.Arg841Ser)
n.2769A>T
c.2625A>T (p.Arg875Ser)
c.1860A>T (p.Arg620Ser)
c.2454A>T (p.Arg818Ser)
c.2472A>T (p.Arg824Ser)
c.903A>T (p.Arg301Ser)
c.1314A>T (p.Arg438Ser)
c.2415A>T (p.Arg805Ser)
c.2502A>T (p.Arg834Ser)
c.2433A>T (p.Arg811Ser)
c.1965A>T (p.Arg655Ser)
Xg.41524017T>CCA516098999CASKc.2487A>G (p.Arg829=)
c.2484A>G (p.Arg828=)
c.2538A>G (p.Arg846=)
c.2436A>G (p.Arg812=)
c.2541A>G (p.Arg847=)
c.1158A>G (p.Arg386=)
c.2469A>G (p.Arg823=)
c.2400A>G (p.Arg800=)
n.1317A>G
n.697A>G
c.310A>G
c.2520A>G (p.Arg840=)
c.2451A>G (p.Arg817=)
c.2523A>G (p.Arg841=)
n.2769A>G
c.2625A>G (p.Arg875=)
c.1860A>G (p.Arg620=)
c.2454A>G (p.Arg818=)
c.2472A>G (p.Arg824=)
c.903A>G (p.Arg301=)
c.1314A>G (p.Arg438=)
c.2415A>G (p.Arg805=)
c.2502A>G (p.Arg834=)
c.2433A>G (p.Arg811=)
c.1965A>G (p.Arg655=)
Xg.41524017T>GCA412989253CASKc.2487A>C (p.Arg829Ser)
c.2484A>C (p.Arg828Ser)
c.2538A>C (p.Arg846Ser)
c.2436A>C (p.Arg812Ser)
c.2541A>C (p.Arg847Ser)
c.1158A>C (p.Arg386Ser)
c.2469A>C (p.Arg823Ser)
c.2400A>C (p.Arg800Ser)
n.1317A>C
n.697A>C
c.310A>C
c.2520A>C (p.Arg840Ser)
c.2451A>C (p.Arg817Ser)
c.2523A>C (p.Arg841Ser)
n.2769A>C
c.2625A>C (p.Arg875Ser)
c.1860A>C (p.Arg620Ser)
c.2454A>C (p.Arg818Ser)
c.2472A>C (p.Arg824Ser)
c.903A>C (p.Arg301Ser)
c.1314A>C (p.Arg438Ser)
c.2415A>C (p.Arg805Ser)
c.2502A>C (p.Arg834Ser)
c.2433A>C (p.Arg811Ser)
c.1965A>C (p.Arg655Ser)
Xg.41524018C>ACA412989254CASKc.2486G>T (p.Arg829Ile)
c.2483G>T (p.Arg828Ile)
c.2537G>T (p.Arg846Ile)
c.2435G>T (p.Arg812Ile)
c.2540G>T (p.Arg847Ile)
c.1157G>T (p.Arg386Ile)
c.2468G>T (p.Arg823Ile)
c.2399G>T (p.Arg800Ile)
n.1316G>T
n.696G>T
c.309G>T
c.2519G>T (p.Arg840Ile)
c.2450G>T (p.Arg817Ile)
c.2522G>T (p.Arg841Ile)
n.2768G>T
c.2624G>T (p.Arg875Ile)
c.1859G>T (p.Arg620Ile)
c.2453G>T (p.Arg818Ile)
c.2471G>T (p.Arg824Ile)
c.902G>T (p.Arg301Ile)
c.1313G>T (p.Arg438Ile)
c.2414G>T (p.Arg805Ile)
c.2501G>T (p.Arg834Ile)
c.2432G>T (p.Arg811Ile)
c.1964G>T (p.Arg655Ile)
 gnomAD v3 gnomAD v4
Xg.41524018C>GCA412989256CASKc.2486G>C (p.Arg829Thr)
c.2483G>C (p.Arg828Thr)
c.2537G>C (p.Arg846Thr)
c.2435G>C (p.Arg812Thr)
c.2540G>C (p.Arg847Thr)
c.1157G>C (p.Arg386Thr)
c.2468G>C (p.Arg823Thr)
c.2399G>C (p.Arg800Thr)
n.1316G>C
n.696G>C
c.309G>C
c.2519G>C (p.Arg840Thr)
c.2450G>C (p.Arg817Thr)
c.2522G>C (p.Arg841Thr)
n.2768G>C
c.2624G>C (p.Arg875Thr)
c.1859G>C (p.Arg620Thr)
c.2453G>C (p.Arg818Thr)
c.2471G>C (p.Arg824Thr)
c.902G>C (p.Arg301Thr)
c.1313G>C (p.Arg438Thr)
c.2414G>C (p.Arg805Thr)
c.2501G>C (p.Arg834Thr)
c.2432G>C (p.Arg811Thr)
c.1964G>C (p.Arg655Thr)
Xg.41524018C>TCA412989258CASKc.2486G>A (p.Arg829Lys)
c.2483G>A (p.Arg828Lys)
c.2537G>A (p.Arg846Lys)
c.2435G>A (p.Arg812Lys)
c.2540G>A (p.Arg847Lys)
c.1157G>A (p.Arg386Lys)
c.2468G>A (p.Arg823Lys)
c.2399G>A (p.Arg800Lys)
n.1316G>A
n.696G>A
c.309G>A
c.2519G>A (p.Arg840Lys)
c.2450G>A (p.Arg817Lys)
c.2522G>A (p.Arg841Lys)
n.2768G>A
c.2624G>A (p.Arg875Lys)
c.1859G>A (p.Arg620Lys)
c.2453G>A (p.Arg818Lys)
c.2471G>A (p.Arg824Lys)
c.902G>A (p.Arg301Lys)
c.1313G>A (p.Arg438Lys)
c.2414G>A (p.Arg805Lys)
c.2501G>A (p.Arg834Lys)
c.2432G>A (p.Arg811Lys)
c.1964G>A (p.Arg655Lys)
Xg.41524019T>ACA412989259CASKc.2485A>T (p.Arg829Ter)
c.2482A>T (p.Arg828Ter)
c.2536A>T (p.Arg846Ter)
c.2434A>T (p.Arg812Ter)
c.2539A>T (p.Arg847Ter)
c.1156A>T (p.Arg386Ter)
c.2467A>T (p.Arg823Ter)
c.2398A>T (p.Arg800Ter)
n.1315A>T
n.695A>T
c.308A>T
c.2518A>T (p.Arg840Ter)
c.2449A>T (p.Arg817Ter)
c.2521A>T (p.Arg841Ter)
n.2767A>T
c.2623A>T (p.Arg875Ter)
c.1858A>T (p.Arg620Ter)
c.2452A>T (p.Arg818Ter)
c.2470A>T (p.Arg824Ter)
c.901A>T (p.Arg301Ter)
c.1312A>T (p.Arg438Ter)
c.2413A>T (p.Arg805Ter)
c.2500A>T (p.Arg834Ter)
c.2431A>T (p.Arg811Ter)
c.1963A>T (p.Arg655Ter)
Xg.41524019T>CCA412989260CASKc.2485A>G (p.Arg829Gly)
c.2482A>G (p.Arg828Gly)
c.2536A>G (p.Arg846Gly)
c.2434A>G (p.Arg812Gly)
c.2539A>G (p.Arg847Gly)
c.1156A>G (p.Arg386Gly)
c.2467A>G (p.Arg823Gly)
c.2398A>G (p.Arg800Gly)
n.1315A>G
n.695A>G
c.308A>G
c.2518A>G (p.Arg840Gly)
c.2449A>G (p.Arg817Gly)
c.2521A>G (p.Arg841Gly)
n.2767A>G
c.2623A>G (p.Arg875Gly)
c.1858A>G (p.Arg620Gly)
c.2452A>G (p.Arg818Gly)
c.2470A>G (p.Arg824Gly)
c.901A>G (p.Arg301Gly)
c.1312A>G (p.Arg438Gly)
c.2413A>G (p.Arg805Gly)
c.2500A>G (p.Arg834Gly)
c.2431A>G (p.Arg811Gly)
c.1963A>G (p.Arg655Gly)
Xg.41524019T>GCA516099000CASKc.2485A>C (p.Arg829=)
c.2482A>C (p.Arg828=)
c.2536A>C (p.Arg846=)
c.2434A>C (p.Arg812=)
c.2539A>C (p.Arg847=)
c.1156A>C (p.Arg386=)
c.2467A>C (p.Arg823=)
c.2398A>C (p.Arg800=)
n.1315A>C
n.695A>C
c.308A>C
c.2518A>C (p.Arg840=)
c.2449A>C (p.Arg817=)
c.2521A>C (p.Arg841=)
n.2767A>C
c.2623A>C (p.Arg875=)
c.1858A>C (p.Arg620=)
c.2452A>C (p.Arg818=)
c.2470A>C (p.Arg824=)
c.901A>C (p.Arg301=)
c.1312A>C (p.Arg438=)
c.2413A>C (p.Arg805=)
c.2500A>C (p.Arg834=)
c.2431A>C (p.Arg811=)
c.1963A>C (p.Arg655=)
Xg.41524020C>ACA516099002CASKc.2484G>T (p.Leu828=)
c.2481G>T (p.Leu827=)
c.2535G>T (p.Leu845=)
c.2433G>T (p.Leu811=)
c.2538G>T (p.Leu846=)
c.1155G>T (p.Leu385=)
c.2466G>T (p.Leu822=)
c.2397G>T (p.Leu799=)
n.1314G>T
n.694G>T
c.307G>T
c.2517G>T (p.Leu839=)
c.2448G>T (p.Leu816=)
c.2520G>T (p.Leu840=)
n.2766G>T
c.2622G>T (p.Leu874=)
c.1857G>T (p.Leu619=)
c.2451G>T (p.Leu817=)
c.2469G>T (p.Leu823=)
c.900G>T (p.Leu300=)
c.1311G>T (p.Leu437=)
c.2412G>T (p.Leu804=)
c.2499G>T (p.Leu833=)
c.2430G>T (p.Leu810=)
c.1962G>T (p.Leu654=)
 gnomAD v3 gnomAD v4
Xg.41524020C>GCA516099003CASKc.2484G>C (p.Leu828=)
c.2481G>C (p.Leu827=)
c.2535G>C (p.Leu845=)
c.2433G>C (p.Leu811=)
c.2538G>C (p.Leu846=)
c.1155G>C (p.Leu385=)
c.2466G>C (p.Leu822=)
c.2397G>C (p.Leu799=)
n.1314G>C
n.694G>C
c.307G>C
c.2517G>C (p.Leu839=)
c.2448G>C (p.Leu816=)
c.2520G>C (p.Leu840=)
n.2766G>C
c.2622G>C (p.Leu874=)
c.1857G>C (p.Leu619=)
c.2451G>C (p.Leu817=)
c.2469G>C (p.Leu823=)
c.900G>C (p.Leu300=)
c.1311G>C (p.Leu437=)
c.2412G>C (p.Leu804=)
c.2499G>C (p.Leu833=)
c.2430G>C (p.Leu810=)
c.1962G>C (p.Leu654=)
Xg.41524020C>TCA516099004CASKc.2484G>A (p.Leu828=)
c.2481G>A (p.Leu827=)
c.2535G>A (p.Leu845=)
c.2433G>A (p.Leu811=)
c.2538G>A (p.Leu846=)
c.1155G>A (p.Leu385=)
c.2466G>A (p.Leu822=)
c.2397G>A (p.Leu799=)
n.1314G>A
n.694G>A
c.307G>A
c.2517G>A (p.Leu839=)
c.2448G>A (p.Leu816=)
c.2520G>A (p.Leu840=)
n.2766G>A
c.2622G>A (p.Leu874=)
c.1857G>A (p.Leu619=)
c.2451G>A (p.Leu817=)
c.2469G>A (p.Leu823=)
c.900G>A (p.Leu300=)
c.1311G>A (p.Leu437=)
c.2412G>A (p.Leu804=)
c.2499G>A (p.Leu833=)
c.2430G>A (p.Leu810=)
c.1962G>A (p.Leu654=)
 gnomAD v4
Xg.41524021A>CCA412989262CASKc.2483T>G (p.Leu828Arg)
c.2480T>G (p.Leu827Arg)
c.2534T>G (p.Leu845Arg)
c.2432T>G (p.Leu811Arg)
c.2537T>G (p.Leu846Arg)
c.1154T>G (p.Leu385Arg)
c.2465T>G (p.Leu822Arg)
c.2396T>G (p.Leu799Arg)
n.1313T>G
n.693T>G
c.306T>G
c.2516T>G (p.Leu839Arg)
c.2447T>G (p.Leu816Arg)
c.2519T>G (p.Leu840Arg)
n.2765T>G
c.2621T>G (p.Leu874Arg)
c.1856T>G (p.Leu619Arg)
c.2450T>G (p.Leu817Arg)
c.2468T>G (p.Leu823Arg)
c.899T>G (p.Leu300Arg)
c.1310T>G (p.Leu437Arg)
c.2411T>G (p.Leu804Arg)
c.2498T>G (p.Leu833Arg)
c.2429T>G (p.Leu810Arg)
c.1961T>G (p.Leu654Arg)
Xg.41524021A>GCA412989264CASKc.2483T>C (p.Leu828Pro)
c.2480T>C (p.Leu827Pro)
c.2534T>C (p.Leu845Pro)
c.2432T>C (p.Leu811Pro)
c.2537T>C (p.Leu846Pro)
c.1154T>C (p.Leu385Pro)
c.2465T>C (p.Leu822Pro)
c.2396T>C (p.Leu799Pro)
n.1313T>C
n.693T>C
c.306T>C
c.2516T>C (p.Leu839Pro)
c.2447T>C (p.Leu816Pro)
c.2519T>C (p.Leu840Pro)
n.2765T>C
c.2621T>C (p.Leu874Pro)
c.1856T>C (p.Leu619Pro)
c.2450T>C (p.Leu817Pro)
c.2468T>C (p.Leu823Pro)
c.899T>C (p.Leu300Pro)
c.1310T>C (p.Leu437Pro)
c.2411T>C (p.Leu804Pro)
c.2498T>C (p.Leu833Pro)
c.2429T>C (p.Leu810Pro)
c.1961T>C (p.Leu654Pro)
 gnomAD v4
Xg.41524021A>TCA412989266CASKc.2483T>A (p.Leu828Gln)
c.2480T>A (p.Leu827Gln)
c.2534T>A (p.Leu845Gln)
c.2432T>A (p.Leu811Gln)
c.2537T>A (p.Leu846Gln)
c.1154T>A (p.Leu385Gln)
c.2465T>A (p.Leu822Gln)
c.2396T>A (p.Leu799Gln)
n.1313T>A
n.693T>A
c.306T>A
c.2516T>A (p.Leu839Gln)
c.2447T>A (p.Leu816Gln)
c.2519T>A (p.Leu840Gln)
n.2765T>A
c.2621T>A (p.Leu874Gln)
c.1856T>A (p.Leu619Gln)
c.2450T>A (p.Leu817Gln)
c.2468T>A (p.Leu823Gln)
c.899T>A (p.Leu300Gln)
c.1310T>A (p.Leu437Gln)
c.2411T>A (p.Leu804Gln)
c.2498T>A (p.Leu833Gln)
c.2429T>A (p.Leu810Gln)
c.1961T>A (p.Leu654Gln)
Xg.41524022G>ACA516099005CASKc.2482C>T (p.Leu828=)
c.2479C>T (p.Leu827=)
c.2533C>T (p.Leu845=)
c.2431C>T (p.Leu811=)
c.2536C>T (p.Leu846=)
c.1153C>T (p.Leu385=)
c.2464C>T (p.Leu822=)
c.2395C>T (p.Leu799=)
n.1312C>T
n.692C>T
c.305C>T
c.2515C>T (p.Leu839=)
c.2446C>T (p.Leu816=)
c.2518C>T (p.Leu840=)
n.2764C>T
c.2620C>T (p.Leu874=)
c.1855C>T (p.Leu619=)
c.2449C>T (p.Leu817=)
c.2467C>T (p.Leu823=)
c.898C>T (p.Leu300=)
c.1309C>T (p.Leu437=)
c.2410C>T (p.Leu804=)
c.2497C>T (p.Leu833=)
c.2428C>T (p.Leu810=)
c.1960C>T (p.Leu654=)
 gnomAD v3 gnomAD v4
Xg.41524022G>CCA412989267CASKc.2482C>G (p.Leu828Val)
c.2479C>G (p.Leu827Val)
c.2533C>G (p.Leu845Val)
c.2431C>G (p.Leu811Val)
c.2536C>G (p.Leu846Val)
c.1153C>G (p.Leu385Val)
c.2464C>G (p.Leu822Val)
c.2395C>G (p.Leu799Val)
n.1312C>G
n.692C>G
c.305C>G
c.2515C>G (p.Leu839Val)
c.2446C>G (p.Leu816Val)
c.2518C>G (p.Leu840Val)
n.2764C>G
c.2620C>G (p.Leu874Val)
c.1855C>G (p.Leu619Val)
c.2449C>G (p.Leu817Val)
c.2467C>G (p.Leu823Val)
c.898C>G (p.Leu300Val)
c.1309C>G (p.Leu437Val)
c.2410C>G (p.Leu804Val)
c.2497C>G (p.Leu833Val)
c.2428C>G (p.Leu810Val)
c.1960C>G (p.Leu654Val)
Xg.41524022G>TCA412989268CASKc.2482C>A (p.Leu828Met)
c.2479C>A (p.Leu827Met)
c.2533C>A (p.Leu845Met)
c.2431C>A (p.Leu811Met)
c.2536C>A (p.Leu846Met)
c.1153C>A (p.Leu385Met)
c.2464C>A (p.Leu822Met)
c.2395C>A (p.Leu799Met)
n.1312C>A
n.692C>A
c.305C>A
c.2515C>A (p.Leu839Met)
c.2446C>A (p.Leu816Met)
c.2518C>A (p.Leu840Met)
n.2764C>A
c.2620C>A (p.Leu874Met)
c.1855C>A (p.Leu619Met)
c.2449C>A (p.Leu817Met)
c.2467C>A (p.Leu823Met)
c.898C>A (p.Leu300Met)
c.1309C>A (p.Leu437Met)
c.2410C>A (p.Leu804Met)
c.2497C>A (p.Leu833Met)
c.2428C>A (p.Leu810Met)
c.1960C>A (p.Leu654Met)
 gnomAD v4
Xg.41524023G>ACA516099006CASKc.2481C>T (p.Val827=)
c.2478C>T (p.Val826=)
c.2532C>T (p.Val844=)
c.2430C>T (p.Val810=)
c.2535C>T (p.Val845=)
c.1152C>T (p.Val384=)
c.2463C>T (p.Val821=)
c.2394C>T (p.Val798=)
n.1311C>T
n.691C>T
c.304C>T
c.2514C>T (p.Val838=)
c.2445C>T (p.Val815=)
c.2517C>T (p.Val839=)
n.2763C>T
c.2619C>T (p.Val873=)
c.1854C>T (p.Val618=)
c.2448C>T (p.Val816=)
c.2466C>T (p.Val822=)
c.897C>T (p.Val299=)
c.1308C>T (p.Val436=)
c.2409C>T (p.Val803=)
c.2496C>T (p.Val832=)
c.2427C>T (p.Val809=)
c.1959C>T (p.Val653=)
 gnomAD v3 gnomAD v4
Xg.41524023G>CCA516099007CASKc.2481C>G (p.Val827=)
c.2478C>G (p.Val826=)
c.2532C>G (p.Val844=)
c.2430C>G (p.Val810=)
c.2535C>G (p.Val845=)
c.1152C>G (p.Val384=)
c.2463C>G (p.Val821=)
c.2394C>G (p.Val798=)
n.1311C>G
n.691C>G
c.304C>G
c.2514C>G (p.Val838=)
c.2445C>G (p.Val815=)
c.2517C>G (p.Val839=)
n.2763C>G
c.2619C>G (p.Val873=)
c.1854C>G (p.Val618=)
c.2448C>G (p.Val816=)
c.2466C>G (p.Val822=)
c.897C>G (p.Val299=)
c.1308C>G (p.Val436=)
c.2409C>G (p.Val803=)
c.2496C>G (p.Val832=)
c.2427C>G (p.Val809=)
c.1959C>G (p.Val653=)
Xg.41524023G>TCA516099008CASKc.2481C>A (p.Val827=)
c.2478C>A (p.Val826=)
c.2532C>A (p.Val844=)
c.2430C>A (p.Val810=)
c.2535C>A (p.Val845=)
c.1152C>A (p.Val384=)
c.2463C>A (p.Val821=)
c.2394C>A (p.Val798=)
n.1311C>A
n.691C>A
c.304C>A
c.2514C>A (p.Val838=)
c.2445C>A (p.Val815=)
c.2517C>A (p.Val839=)
n.2763C>A
c.2619C>A (p.Val873=)
c.1854C>A (p.Val618=)
c.2448C>A (p.Val816=)
c.2466C>A (p.Val822=)
c.897C>A (p.Val299=)
c.1308C>A (p.Val436=)
c.2409C>A (p.Val803=)
c.2496C>A (p.Val832=)
c.2427C>A (p.Val809=)
c.1959C>A (p.Val653=)
Xg.41524024A=CA2425945455CASKc.2480T= (p.Val827=)
c.2477T= (p.Val826=)
c.2531T= (p.Val844=)
c.2429T= (p.Val810=)
c.2534T= (p.Val845=)
c.1151T= (p.Val384=)
c.2462T= (p.Val821=)
c.2393T= (p.Val798=)
n.1310T=
n.690T=
c.303T=
c.2513T= (p.Val838=)
c.2444T= (p.Val815=)
c.2516T= (p.Val839=)
n.2762T=
c.2618T= (p.Val873=)
c.1853T= (p.Val618=)
c.2447T= (p.Val816=)
c.2465T= (p.Val822=)
c.896T= (p.Val299=)
c.1307T= (p.Val436=)
c.2408T= (p.Val803=)
c.2495T= (p.Val832=)
c.2426T= (p.Val809=)
c.1958T= (p.Val653=)
Xg.41524024A>CCA10389984CASKc.2480T>G (p.Val827Gly)
c.2477T>G (p.Val826Gly)
c.2531T>G (p.Val844Gly)
c.2429T>G (p.Val810Gly)
c.2534T>G (p.Val845Gly)
c.1151T>G (p.Val384Gly)
c.2462T>G (p.Val821Gly)
c.2393T>G (p.Val798Gly)
n.1310T>G
n.690T>G
c.303T>G
c.2513T>G (p.Val838Gly)
c.2444T>G (p.Val815Gly)
c.2516T>G (p.Val839Gly)
n.2762T>G
c.2618T>G (p.Val873Gly)
c.1853T>G (p.Val618Gly)
c.2447T>G (p.Val816Gly)
c.2465T>G (p.Val822Gly)
c.896T>G (p.Val299Gly)
c.1307T>G (p.Val436Gly)
c.2408T>G (p.Val803Gly)
c.2495T>G (p.Val832Gly)
c.2426T>G (p.Val809Gly)
c.1958T>G (p.Val653Gly)
 dbSNP ExAC
Xg.41524024A>GCA412989271CASKc.2480T>C (p.Val827Ala)
c.2477T>C (p.Val826Ala)
c.2531T>C (p.Val844Ala)
c.2429T>C (p.Val810Ala)
c.2534T>C (p.Val845Ala)
c.1151T>C (p.Val384Ala)
c.2462T>C (p.Val821Ala)
c.2393T>C (p.Val798Ala)
n.1310T>C
n.690T>C
c.303T>C
c.2513T>C (p.Val838Ala)
c.2444T>C (p.Val815Ala)
c.2516T>C (p.Val839Ala)
n.2762T>C
c.2618T>C (p.Val873Ala)
c.1853T>C (p.Val618Ala)
c.2447T>C (p.Val816Ala)
c.2465T>C (p.Val822Ala)
c.896T>C (p.Val299Ala)
c.1307T>C (p.Val436Ala)
c.2408T>C (p.Val803Ala)
c.2495T>C (p.Val832Ala)
c.2426T>C (p.Val809Ala)
c.1958T>C (p.Val653Ala)
 gnomAD v4
Xg.41524024A>TCA412989272CASKc.2480T>A (p.Val827Asp)
c.2477T>A (p.Val826Asp)
c.2531T>A (p.Val844Asp)
c.2429T>A (p.Val810Asp)
c.2534T>A (p.Val845Asp)
c.1151T>A (p.Val384Asp)
c.2462T>A (p.Val821Asp)
c.2393T>A (p.Val798Asp)
n.1310T>A
n.690T>A
c.303T>A
c.2513T>A (p.Val838Asp)
c.2444T>A (p.Val815Asp)
c.2516T>A (p.Val839Asp)
n.2762T>A
c.2618T>A (p.Val873Asp)
c.1853T>A (p.Val618Asp)
c.2447T>A (p.Val816Asp)
c.2465T>A (p.Val822Asp)
c.896T>A (p.Val299Asp)
c.1307T>A (p.Val436Asp)
c.2408T>A (p.Val803Asp)
c.2495T>A (p.Val832Asp)
c.2426T>A (p.Val809Asp)
c.1958T>A (p.Val653Asp)
Xg.41524025C>ACA412989274CASKc.2479G>T (p.Val827Phe)
c.2476G>T (p.Val826Phe)
c.2530G>T (p.Val844Phe)
c.2428G>T (p.Val810Phe)
c.2533G>T (p.Val845Phe)
c.1150G>T (p.Val384Phe)
c.2461G>T (p.Val821Phe)
c.2392G>T (p.Val798Phe)
n.1309G>T
n.689G>T
c.302G>T
c.2512G>T (p.Val838Phe)
c.2443G>T (p.Val815Phe)
c.2515G>T (p.Val839Phe)
n.2761G>T
c.2617G>T (p.Val873Phe)
c.1852G>T (p.Val618Phe)
c.2446G>T (p.Val816Phe)
c.2464G>T (p.Val822Phe)
c.895G>T (p.Val299Phe)
c.1306G>T (p.Val436Phe)
c.2407G>T (p.Val803Phe)
c.2494G>T (p.Val832Phe)
c.2425G>T (p.Val809Phe)
c.1957G>T (p.Val653Phe)
 ClinVar dbSNP gnomAD v4
Xg.41524025C>GCA412989275CASKc.2479G>C (p.Val827Leu)
c.2476G>C (p.Val826Leu)
c.2530G>C (p.Val844Leu)
c.2428G>C (p.Val810Leu)
c.2533G>C (p.Val845Leu)
c.1150G>C (p.Val384Leu)
c.2461G>C (p.Val821Leu)
c.2392G>C (p.Val798Leu)
n.1309G>C
n.689G>C
c.302G>C
c.2512G>C (p.Val838Leu)
c.2443G>C (p.Val815Leu)
c.2515G>C (p.Val839Leu)
n.2761G>C
c.2617G>C (p.Val873Leu)
c.1852G>C (p.Val618Leu)
c.2446G>C (p.Val816Leu)
c.2464G>C (p.Val822Leu)
c.895G>C (p.Val299Leu)
c.1306G>C (p.Val436Leu)
c.2407G>C (p.Val803Leu)
c.2494G>C (p.Val832Leu)
c.2425G>C (p.Val809Leu)
c.1957G>C (p.Val653Leu)
Xg.41524025C>TCA412989277CASKc.2479G>A (p.Val827Ile)
c.2476G>A (p.Val826Ile)
c.2530G>A (p.Val844Ile)
c.2428G>A (p.Val810Ile)
c.2533G>A (p.Val845Ile)
c.1150G>A (p.Val384Ile)
c.2461G>A (p.Val821Ile)
c.2392G>A (p.Val798Ile)
n.1309G>A
n.689G>A
c.302G>A
c.2512G>A (p.Val838Ile)
c.2443G>A (p.Val815Ile)
c.2515G>A (p.Val839Ile)
n.2761G>A
c.2617G>A (p.Val873Ile)
c.1852G>A (p.Val618Ile)
c.2446G>A (p.Val816Ile)
c.2464G>A (p.Val822Ile)
c.895G>A (p.Val299Ile)
c.1306G>A (p.Val436Ile)
c.2407G>A (p.Val803Ile)
c.2494G>A (p.Val832Ile)
c.2425G>A (p.Val809Ile)
c.1957G>A (p.Val653Ile)
 gnomAD v4
Xg.41524026C>ACA412989278CASKc.2478G>T (p.Lys826Asn)
c.2475G>T (p.Lys825Asn)
c.2529G>T (p.Lys843Asn)
c.2427G>T (p.Lys809Asn)
c.2532G>T (p.Lys844Asn)
c.1149G>T (p.Lys383Asn)
c.2460G>T (p.Lys820Asn)
c.2391G>T (p.Lys797Asn)
n.1308G>T
n.688G>T
c.301G>T
c.2511G>T (p.Lys837Asn)
c.2442G>T (p.Lys814Asn)
c.2514G>T (p.Lys838Asn)
n.2760G>T
c.2616G>T (p.Lys872Asn)
c.1851G>T (p.Lys617Asn)
c.2445G>T (p.Lys815Asn)
c.2463G>T (p.Lys821Asn)
c.894G>T (p.Lys298Asn)
c.1305G>T (p.Lys435Asn)
c.2406G>T (p.Lys802Asn)
c.2493G>T (p.Lys831Asn)
c.2424G>T (p.Lys808Asn)
c.1956G>T (p.Lys652Asn)
 gnomAD v4
Xg.41524026C>GCA412989280CASKc.2478G>C (p.Lys826Asn)
c.2475G>C (p.Lys825Asn)
c.2529G>C (p.Lys843Asn)
c.2427G>C (p.Lys809Asn)
c.2532G>C (p.Lys844Asn)
c.1149G>C (p.Lys383Asn)
c.2460G>C (p.Lys820Asn)
c.2391G>C (p.Lys797Asn)
n.1308G>C
n.688G>C
c.301G>C
c.2511G>C (p.Lys837Asn)
c.2442G>C (p.Lys814Asn)
c.2514G>C (p.Lys838Asn)
n.2760G>C
c.2616G>C (p.Lys872Asn)
c.1851G>C (p.Lys617Asn)
c.2445G>C (p.Lys815Asn)
c.2463G>C (p.Lys821Asn)
c.894G>C (p.Lys298Asn)
c.1305G>C (p.Lys435Asn)
c.2406G>C (p.Lys802Asn)
c.2493G>C (p.Lys831Asn)
c.2424G>C (p.Lys808Asn)
c.1956G>C (p.Lys652Asn)
Xg.41524026C>TCA516099009CASKc.2478G>A (p.Lys826=)
c.2475G>A (p.Lys825=)
c.2529G>A (p.Lys843=)
c.2427G>A (p.Lys809=)
c.2532G>A (p.Lys844=)
c.1149G>A (p.Lys383=)
c.2460G>A (p.Lys820=)
c.2391G>A (p.Lys797=)
n.1308G>A
n.688G>A
c.301G>A
c.2511G>A (p.Lys837=)
c.2442G>A (p.Lys814=)
c.2514G>A (p.Lys838=)
n.2760G>A
c.2616G>A (p.Lys872=)
c.1851G>A (p.Lys617=)
c.2445G>A (p.Lys815=)
c.2463G>A (p.Lys821=)
c.894G>A (p.Lys298=)
c.1305G>A (p.Lys435=)
c.2406G>A (p.Lys802=)
c.2493G>A (p.Lys831=)
c.2424G>A (p.Lys808=)
c.1956G>A (p.Lys652=)
 gnomAD v4
Xg.41524027T>ACA412989282CASKc.2477A>T (p.Lys826Met)
c.2474A>T (p.Lys825Met)
c.2528A>T (p.Lys843Met)
c.2426A>T (p.Lys809Met)
c.2531A>T (p.Lys844Met)
c.1148A>T (p.Lys383Met)
c.2459A>T (p.Lys820Met)
c.2390A>T (p.Lys797Met)
n.1307A>T
n.687A>T
c.300A>T
c.2510A>T (p.Lys837Met)
c.2441A>T (p.Lys814Met)
c.2513A>T (p.Lys838Met)
n.2759A>T
c.2615A>T (p.Lys872Met)
c.1850A>T (p.Lys617Met)
c.2444A>T (p.Lys815Met)
c.2462A>T (p.Lys821Met)
c.893A>T (p.Lys298Met)
c.1304A>T (p.Lys435Met)
c.2405A>T (p.Lys802Met)
c.2492A>T (p.Lys831Met)
c.2423A>T (p.Lys808Met)
c.1955A>T (p.Lys652Met)
 gnomAD v4
Xg.41524027T>CCA412989283CASKc.2477A>G (p.Lys826Arg)
c.2474A>G (p.Lys825Arg)
c.2528A>G (p.Lys843Arg)
c.2426A>G (p.Lys809Arg)
c.2531A>G (p.Lys844Arg)
c.1148A>G (p.Lys383Arg)
c.2459A>G (p.Lys820Arg)
c.2390A>G (p.Lys797Arg)
n.1307A>G
n.687A>G
c.300A>G
c.2510A>G (p.Lys837Arg)
c.2441A>G (p.Lys814Arg)
c.2513A>G (p.Lys838Arg)
n.2759A>G
c.2615A>G (p.Lys872Arg)
c.1850A>G (p.Lys617Arg)
c.2444A>G (p.Lys815Arg)
c.2462A>G (p.Lys821Arg)
c.893A>G (p.Lys298Arg)
c.1304A>G (p.Lys435Arg)
c.2405A>G (p.Lys802Arg)
c.2492A>G (p.Lys831Arg)
c.2423A>G (p.Lys808Arg)
c.1955A>G (p.Lys652Arg)
 gnomAD v4
Xg.41524027T>GCA412989285CASKc.2477A>C (p.Lys826Thr)
c.2474A>C (p.Lys825Thr)
c.2528A>C (p.Lys843Thr)
c.2426A>C (p.Lys809Thr)
c.2531A>C (p.Lys844Thr)
c.1148A>C (p.Lys383Thr)
c.2459A>C (p.Lys820Thr)
c.2390A>C (p.Lys797Thr)
n.1307A>C
n.687A>C
c.300A>C
c.2510A>C (p.Lys837Thr)
c.2441A>C (p.Lys814Thr)
c.2513A>C (p.Lys838Thr)
n.2759A>C
c.2615A>C (p.Lys872Thr)
c.1850A>C (p.Lys617Thr)
c.2444A>C (p.Lys815Thr)
c.2462A>C (p.Lys821Thr)
c.893A>C (p.Lys298Thr)
c.1304A>C (p.Lys435Thr)
c.2405A>C (p.Lys802Thr)
c.2492A>C (p.Lys831Thr)
c.2423A>C (p.Lys808Thr)
c.1955A>C (p.Lys652Thr)
Xg.41524028delCA2693493303CASKc.2477del (p.Lys826ArgfsTer3)
c.2474del (p.Lys825ArgfsTer3)
c.2528del (p.Lys843ArgfsTer3)
c.2426del (p.Lys809ArgfsTer3)
c.2531del (p.Lys844ArgfsTer3)
c.1148del (p.Lys383ArgfsTer3)
c.2459del (p.Lys820ArgfsTer3)
c.2390del (p.Lys797ArgfsTer3)
n.1307del
n.687del
c.300del
c.2510del (p.Lys837ArgfsTer3)
c.2441del (p.Lys814ArgfsTer3)
c.2513del (p.Lys838ArgfsTer3)
n.2759del
c.2615del (p.Lys872ArgfsTer3)
c.1850del (p.Lys617ArgfsTer3)
c.2444del (p.Lys815ArgfsTer3)
c.2462del (p.Lys821ArgfsTer3)
c.893del (p.Lys298ArgfsTer3)
c.1304del (p.Lys435ArgfsTer3)
c.2405del (p.Lys802ArgfsTer3)
c.2492del (p.Lys831ArgfsTer3)
c.2423del (p.Lys808ArgfsTer3)
c.1955del (p.Lys652ArgfsTer3)
 gnomAD v4
Xg.41524028T>ACA10588781CASKc.2476A>T (p.Lys826Ter)
c.2473A>T (p.Lys825Ter)
c.2527A>T (p.Lys843Ter)
c.2425A>T (p.Lys809Ter)
c.2530A>T (p.Lys844Ter)
c.1147A>T (p.Lys383Ter)
c.2458A>T (p.Lys820Ter)
c.2389A>T (p.Lys797Ter)
n.1306A>T
n.686A>T
c.299A>T
c.2509A>T (p.Lys837Ter)
c.2440A>T (p.Lys814Ter)
c.2512A>T (p.Lys838Ter)
n.2758A>T
c.2614A>T (p.Lys872Ter)
c.1849A>T (p.Lys617Ter)
c.2443A>T (p.Lys815Ter)
c.2461A>T (p.Lys821Ter)
c.892A>T (p.Lys298Ter)
c.1303A>T (p.Lys435Ter)
c.2404A>T (p.Lys802Ter)
c.2491A>T (p.Lys831Ter)
c.2422A>T (p.Lys808Ter)
c.1954A>T (p.Lys652Ter)
 ClinVar dbSNP
Xg.41524028T>CCA412989289CASKc.2476A>G (p.Lys826Glu)
c.2473A>G (p.Lys825Glu)
c.2527A>G (p.Lys843Glu)
c.2425A>G (p.Lys809Glu)
c.2530A>G (p.Lys844Glu)
c.1147A>G (p.Lys383Glu)
c.2458A>G (p.Lys820Glu)
c.2389A>G (p.Lys797Glu)
n.1306A>G
n.686A>G
c.299A>G
c.2509A>G (p.Lys837Glu)
c.2440A>G (p.Lys814Glu)
c.2512A>G (p.Lys838Glu)
n.2758A>G
c.2614A>G (p.Lys872Glu)
c.1849A>G (p.Lys617Glu)
c.2443A>G (p.Lys815Glu)
c.2461A>G (p.Lys821Glu)
c.892A>G (p.Lys298Glu)
c.1303A>G (p.Lys435Glu)
c.2404A>G (p.Lys802Glu)
c.2491A>G (p.Lys831Glu)
c.2422A>G (p.Lys808Glu)
c.1954A>G (p.Lys652Glu)
 gnomAD v4
Xg.41524028T>GCA412989287CASKc.2476A>C (p.Lys826Gln)
c.2473A>C (p.Lys825Gln)
c.2527A>C (p.Lys843Gln)
c.2425A>C (p.Lys809Gln)
c.2530A>C (p.Lys844Gln)
c.1147A>C (p.Lys383Gln)
c.2458A>C (p.Lys820Gln)
c.2389A>C (p.Lys797Gln)
n.1306A>C
n.686A>C
c.299A>C
c.2509A>C (p.Lys837Gln)
c.2440A>C (p.Lys814Gln)
c.2512A>C (p.Lys838Gln)
n.2758A>C
c.2614A>C (p.Lys872Gln)
c.1849A>C (p.Lys617Gln)
c.2443A>C (p.Lys815Gln)
c.2461A>C (p.Lys821Gln)
c.892A>C (p.Lys298Gln)
c.1303A>C (p.Lys435Gln)
c.2404A>C (p.Lys802Gln)
c.2491A>C (p.Lys831Gln)
c.2422A>C (p.Lys808Gln)
c.1954A>C (p.Lys652Gln)
Xg.41524028T=CA2425945456CASKc.2476A= (p.Lys826=)
c.2473A= (p.Lys825=)
c.2527A= (p.Lys843=)
c.2425A= (p.Lys809=)
c.2530A= (p.Lys844=)
c.1147A= (p.Lys383=)
c.2458A= (p.Lys820=)
c.2389A= (p.Lys797=)
n.1306A=
n.686A=
c.299A=
c.2509A= (p.Lys837=)
c.2440A= (p.Lys814=)
c.2512A= (p.Lys838=)
n.2758A=
c.2614A= (p.Lys872=)
c.1849A= (p.Lys617=)
c.2443A= (p.Lys815=)
c.2461A= (p.Lys821=)
c.892A= (p.Lys298=)
c.1303A= (p.Lys435=)
c.2404A= (p.Lys802=)
c.2491A= (p.Lys831=)
c.2422A= (p.Lys808=)
c.1954A= (p.Lys652=)
Xg.41524029C>ACA516099010CASKc.2475G>T (p.Leu825=)
c.2472G>T (p.Leu824=)
c.2526G>T (p.Leu842=)
c.2424G>T (p.Leu808=)
c.2529G>T (p.Leu843=)
c.1146G>T (p.Leu382=)
c.2457G>T (p.Leu819=)
c.2388G>T (p.Leu796=)
n.1305G>T
n.685G>T
c.298G>T
c.2508G>T (p.Leu836=)
c.2439G>T (p.Leu813=)
c.2511G>T (p.Leu837=)
n.2757G>T
c.2613G>T (p.Leu871=)
c.1848G>T (p.Leu616=)
c.2442G>T (p.Leu814=)
c.2460G>T (p.Leu820=)
c.891G>T (p.Leu297=)
c.1302G>T (p.Leu434=)
c.2403G>T (p.Leu801=)
c.2490G>T (p.Leu830=)
c.2421G>T (p.Leu807=)
c.1953G>T (p.Leu651=)
 gnomAD v3 gnomAD v4
Xg.41524029C=CA2425945457CASKc.2475G= (p.Leu825=)
c.2472G= (p.Leu824=)
c.2526G= (p.Leu842=)
c.2424G= (p.Leu808=)
c.2529G= (p.Leu843=)
c.1146G= (p.Leu382=)
c.2457G= (p.Leu819=)
c.2388G= (p.Leu796=)
n.1305G=
n.685G=
c.298G=
c.2508G= (p.Leu836=)
c.2439G= (p.Leu813=)
c.2511G= (p.Leu837=)
n.2757G=
c.2613G= (p.Leu871=)
c.1848G= (p.Leu616=)
c.2442G= (p.Leu814=)
c.2460G= (p.Leu820=)
c.891G= (p.Leu297=)
c.1302G= (p.Leu434=)
c.2403G= (p.Leu801=)
c.2490G= (p.Leu830=)
c.2421G= (p.Leu807=)
c.1953G= (p.Leu651=)
Xg.41524029C>GCA516099012CASKc.2475G>C (p.Leu825=)
c.2472G>C (p.Leu824=)
c.2526G>C (p.Leu842=)
c.2424G>C (p.Leu808=)
c.2529G>C (p.Leu843=)
c.1146G>C (p.Leu382=)
c.2457G>C (p.Leu819=)
c.2388G>C (p.Leu796=)
n.1305G>C
n.685G>C
c.298G>C
c.2508G>C (p.Leu836=)
c.2439G>C (p.Leu813=)
c.2511G>C (p.Leu837=)
n.2757G>C
c.2613G>C (p.Leu871=)
c.1848G>C (p.Leu616=)
c.2442G>C (p.Leu814=)
c.2460G>C (p.Leu820=)
c.891G>C (p.Leu297=)
c.1302G>C (p.Leu434=)
c.2403G>C (p.Leu801=)
c.2490G>C (p.Leu830=)
c.2421G>C (p.Leu807=)
c.1953G>C (p.Leu651=)
Xg.41524029C>TCA516099011CASKc.2475G>A (p.Leu825=)
c.2472G>A (p.Leu824=)
c.2526G>A (p.Leu842=)
c.2424G>A (p.Leu808=)
c.2529G>A (p.Leu843=)
c.1146G>A (p.Leu382=)
c.2457G>A (p.Leu819=)
c.2388G>A (p.Leu796=)
n.1305G>A
n.685G>A
c.298G>A
c.2508G>A (p.Leu836=)
c.2439G>A (p.Leu813=)
c.2511G>A (p.Leu837=)
n.2757G>A
c.2613G>A (p.Leu871=)
c.1848G>A (p.Leu616=)
c.2442G>A (p.Leu814=)
c.2460G>A (p.Leu820=)
c.891G>A (p.Leu297=)
c.1302G>A (p.Leu434=)
c.2403G>A (p.Leu801=)
c.2490G>A (p.Leu830=)
c.2421G>A (p.Leu807=)
c.1953G>A (p.Leu651=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41524030A>CCA412989291CASKc.2474T>G (p.Leu825Arg)
c.2471T>G (p.Leu824Arg)
c.2525T>G (p.Leu842Arg)
c.2423T>G (p.Leu808Arg)
c.2528T>G (p.Leu843Arg)
c.1145T>G (p.Leu382Arg)
c.2456T>G (p.Leu819Arg)
c.2387T>G (p.Leu796Arg)
n.1304T>G
n.684T>G
c.297T>G
c.2507T>G (p.Leu836Arg)
c.2438T>G (p.Leu813Arg)
c.2510T>G (p.Leu837Arg)
n.2756T>G
c.2612T>G (p.Leu871Arg)
c.1847T>G (p.Leu616Arg)
c.2441T>G (p.Leu814Arg)
c.2459T>G (p.Leu820Arg)
c.890T>G (p.Leu297Arg)
c.1301T>G (p.Leu434Arg)
c.2402T>G (p.Leu801Arg)
c.2489T>G (p.Leu830Arg)
c.2420T>G (p.Leu807Arg)
c.1952T>G (p.Leu651Arg)
Xg.41524030A>GCA412989295CASKc.2474T>C (p.Leu825Pro)
c.2471T>C (p.Leu824Pro)
c.2525T>C (p.Leu842Pro)
c.2423T>C (p.Leu808Pro)
c.2528T>C (p.Leu843Pro)
c.1145T>C (p.Leu382Pro)
c.2456T>C (p.Leu819Pro)
c.2387T>C (p.Leu796Pro)
n.1304T>C
n.684T>C
c.297T>C
c.2507T>C (p.Leu836Pro)
c.2438T>C (p.Leu813Pro)
c.2510T>C (p.Leu837Pro)
n.2756T>C
c.2612T>C (p.Leu871Pro)
c.1847T>C (p.Leu616Pro)
c.2441T>C (p.Leu814Pro)
c.2459T>C (p.Leu820Pro)
c.890T>C (p.Leu297Pro)
c.1301T>C (p.Leu434Pro)
c.2402T>C (p.Leu801Pro)
c.2489T>C (p.Leu830Pro)
c.2420T>C (p.Leu807Pro)
c.1952T>C (p.Leu651Pro)
Xg.41524030A>TCA412989293CASKc.2474T>A (p.Leu825Gln)
c.2471T>A (p.Leu824Gln)
c.2525T>A (p.Leu842Gln)
c.2423T>A (p.Leu808Gln)
c.2528T>A (p.Leu843Gln)
c.1145T>A (p.Leu382Gln)
c.2456T>A (p.Leu819Gln)
c.2387T>A (p.Leu796Gln)
n.1304T>A
n.684T>A
c.297T>A
c.2507T>A (p.Leu836Gln)
c.2438T>A (p.Leu813Gln)
c.2510T>A (p.Leu837Gln)
n.2756T>A
c.2612T>A (p.Leu871Gln)
c.1847T>A (p.Leu616Gln)
c.2441T>A (p.Leu814Gln)
c.2459T>A (p.Leu820Gln)
c.890T>A (p.Leu297Gln)
c.1301T>A (p.Leu434Gln)
c.2402T>A (p.Leu801Gln)
c.2489T>A (p.Leu830Gln)
c.2420T>A (p.Leu807Gln)
c.1952T>A (p.Leu651Gln)
Xg.41524031G>ACA516099013CASKc.2473C>T (p.Leu825=)
c.2470C>T (p.Leu824=)
c.2524C>T (p.Leu842=)
c.2422C>T (p.Leu808=)
c.2527C>T (p.Leu843=)
c.1144C>T (p.Leu382=)
c.2455C>T (p.Leu819=)
c.2386C>T (p.Leu796=)
n.1303C>T
n.683C>T
c.296C>T
c.2506C>T (p.Leu836=)
c.2437C>T (p.Leu813=)
c.2509C>T (p.Leu837=)
n.2755C>T
c.2611C>T (p.Leu871=)
c.1846C>T (p.Leu616=)
c.2440C>T (p.Leu814=)
c.2458C>T (p.Leu820=)
c.889C>T (p.Leu297=)
c.1300C>T (p.Leu434=)
c.2401C>T (p.Leu801=)
c.2488C>T (p.Leu830=)
c.2419C>T (p.Leu807=)
c.1951C>T (p.Leu651=)
Xg.41524031G>CCA412989296CASKc.2473C>G (p.Leu825Val)
c.2470C>G (p.Leu824Val)
c.2524C>G (p.Leu842Val)
c.2422C>G (p.Leu808Val)
c.2527C>G (p.Leu843Val)
c.1144C>G (p.Leu382Val)
c.2455C>G (p.Leu819Val)
c.2386C>G (p.Leu796Val)
n.1303C>G
n.683C>G
c.296C>G
c.2506C>G (p.Leu836Val)
c.2437C>G (p.Leu813Val)
c.2509C>G (p.Leu837Val)
n.2755C>G
c.2611C>G (p.Leu871Val)
c.1846C>G (p.Leu616Val)
c.2440C>G (p.Leu814Val)
c.2458C>G (p.Leu820Val)
c.889C>G (p.Leu297Val)
c.1300C>G (p.Leu434Val)
c.2401C>G (p.Leu801Val)
c.2488C>G (p.Leu830Val)
c.2419C>G (p.Leu807Val)
c.1951C>G (p.Leu651Val)
Xg.41524031G>TCA412989297CASKc.2473C>A (p.Leu825Met)
c.2470C>A (p.Leu824Met)
c.2524C>A (p.Leu842Met)
c.2422C>A (p.Leu808Met)
c.2527C>A (p.Leu843Met)
c.1144C>A (p.Leu382Met)
c.2455C>A (p.Leu819Met)
c.2386C>A (p.Leu796Met)
n.1303C>A
n.683C>A
c.296C>A
c.2506C>A (p.Leu836Met)
c.2437C>A (p.Leu813Met)
c.2509C>A (p.Leu837Met)
n.2755C>A
c.2611C>A (p.Leu871Met)
c.1846C>A (p.Leu616Met)
c.2440C>A (p.Leu814Met)
c.2458C>A (p.Leu820Met)
c.889C>A (p.Leu297Met)
c.1300C>A (p.Leu434Met)
c.2401C>A (p.Leu801Met)
c.2488C>A (p.Leu830Met)
c.2419C>A (p.Leu807Met)
c.1951C>A (p.Leu651Met)
 gnomAD v4
Xg.41524032delCA2695233445CASKc.2472del (p.Leu825Ter)
c.2469del (p.Leu824Ter)
c.2523del (p.Leu842Ter)
c.2421del (p.Leu808Ter)
c.2526del (p.Leu843Ter)
c.1143del (p.Leu382Ter)
c.2454del (p.Leu819Ter)
c.2385del (p.Leu796Ter)
n.1302del
n.682del
c.295del
c.2505del (p.Leu836Ter)
c.2436del (p.Leu813Ter)
c.2508del (p.Leu837Ter)
n.2754del
c.2610del (p.Leu871Ter)
c.1845del (p.Leu616Ter)
c.2439del (p.Leu814Ter)
c.2457del (p.Leu820Ter)
c.888del (p.Leu297Ter)
c.1299del (p.Leu434Ter)
c.2400del (p.Leu801Ter)
c.2487del (p.Leu830Ter)
c.2418del (p.Leu807Ter)
c.1950del (p.Leu651Ter)
Xg.41524032T>ACA516099014CASKc.2472A>T (p.Ala824=)
c.2469A>T (p.Ala823=)
c.2523A>T (p.Ala841=)
c.2421A>T (p.Ala807=)
c.2526A>T (p.Ala842=)
c.1143A>T (p.Ala381=)
c.2454A>T (p.Ala818=)
c.2385A>T (p.Ala795=)
n.1302A>T
n.682A>T
c.295A>T
c.2505A>T (p.Ala835=)
c.2436A>T (p.Ala812=)
c.2508A>T (p.Ala836=)
n.2754A>T
c.2610A>T (p.Ala870=)
c.1845A>T (p.Ala615=)
c.2439A>T (p.Ala813=)
c.2457A>T (p.Ala819=)
c.888A>T (p.Ala296=)
c.1299A>T (p.Ala433=)
c.2400A>T (p.Ala800=)
c.2487A>T (p.Ala829=)
c.2418A>T (p.Ala806=)
c.1950A>T (p.Ala650=)
Xg.41524032T>CCA516099015CASKc.2472A>G (p.Ala824=)
c.2469A>G (p.Ala823=)
c.2523A>G (p.Ala841=)
c.2421A>G (p.Ala807=)
c.2526A>G (p.Ala842=)
c.1143A>G (p.Ala381=)
c.2454A>G (p.Ala818=)
c.2385A>G (p.Ala795=)
n.1302A>G
n.682A>G
c.295A>G
c.2505A>G (p.Ala835=)
c.2436A>G (p.Ala812=)
c.2508A>G (p.Ala836=)
n.2754A>G
c.2610A>G (p.Ala870=)
c.1845A>G (p.Ala615=)
c.2439A>G (p.Ala813=)
c.2457A>G (p.Ala819=)
c.888A>G (p.Ala296=)
c.1299A>G (p.Ala433=)
c.2400A>G (p.Ala800=)
c.2487A>G (p.Ala829=)
c.2418A>G (p.Ala806=)
c.1950A>G (p.Ala650=)
 gnomAD v4
Xg.41524032T>GCA516099016CASKc.2472A>C (p.Ala824=)
c.2469A>C (p.Ala823=)
c.2523A>C (p.Ala841=)
c.2421A>C (p.Ala807=)
c.2526A>C (p.Ala842=)
c.1143A>C (p.Ala381=)
c.2454A>C (p.Ala818=)
c.2385A>C (p.Ala795=)
n.1302A>C
n.682A>C
c.295A>C
c.2505A>C (p.Ala835=)
c.2436A>C (p.Ala812=)
c.2508A>C (p.Ala836=)
n.2754A>C
c.2610A>C (p.Ala870=)
c.1845A>C (p.Ala615=)
c.2439A>C (p.Ala813=)
c.2457A>C (p.Ala819=)
c.888A>C (p.Ala296=)
c.1299A>C (p.Ala433=)
c.2400A>C (p.Ala800=)
c.2487A>C (p.Ala829=)
c.2418A>C (p.Ala806=)
c.1950A>C (p.Ala650=)
 gnomAD v4
Xg.41524033G>ACA412989299CASKc.2471C>T (p.Ala824Val)
c.2468C>T (p.Ala823Val)
c.2522C>T (p.Ala841Val)
c.2420C>T (p.Ala807Val)
c.2525C>T (p.Ala842Val)
c.1142C>T (p.Ala381Val)
c.2453C>T (p.Ala818Val)
c.2384C>T (p.Ala795Val)
n.1301C>T
n.681C>T
c.294C>T
c.2504C>T (p.Ala835Val)
c.2435C>T (p.Ala812Val)
c.2507C>T (p.Ala836Val)
n.2753C>T
c.2609C>T (p.Ala870Val)
c.1844C>T (p.Ala615Val)
c.2438C>T (p.Ala813Val)
c.2456C>T (p.Ala819Val)
c.887C>T (p.Ala296Val)
c.1298C>T (p.Ala433Val)
c.2399C>T (p.Ala800Val)
c.2486C>T (p.Ala829Val)
c.2417C>T (p.Ala806Val)
c.1949C>T (p.Ala650Val)
 gnomAD v4
Xg.41524033G>CCA412989301CASKc.2471C>G (p.Ala824Gly)
c.2468C>G (p.Ala823Gly)
c.2522C>G (p.Ala841Gly)
c.2420C>G (p.Ala807Gly)
c.2525C>G (p.Ala842Gly)
c.1142C>G (p.Ala381Gly)
c.2453C>G (p.Ala818Gly)
c.2384C>G (p.Ala795Gly)
n.1301C>G
n.681C>G
c.294C>G
c.2504C>G (p.Ala835Gly)
c.2435C>G (p.Ala812Gly)
c.2507C>G (p.Ala836Gly)
n.2753C>G
c.2609C>G (p.Ala870Gly)
c.1844C>G (p.Ala615Gly)
c.2438C>G (p.Ala813Gly)
c.2456C>G (p.Ala819Gly)
c.887C>G (p.Ala296Gly)
c.1298C>G (p.Ala433Gly)
c.2399C>G (p.Ala800Gly)
c.2486C>G (p.Ala829Gly)
c.2417C>G (p.Ala806Gly)
c.1949C>G (p.Ala650Gly)
Xg.41524033G=CA2425945458CASKc.2471C= (p.Ala824=)
c.2468C= (p.Ala823=)
c.2522C= (p.Ala841=)
c.2420C= (p.Ala807=)
c.2525C= (p.Ala842=)
c.1142C= (p.Ala381=)
c.2453C= (p.Ala818=)
c.2384C= (p.Ala795=)
n.1301C=
n.681C=
c.294C=
c.2504C= (p.Ala835=)
c.2435C= (p.Ala812=)
c.2507C= (p.Ala836=)
n.2753C=
c.2609C= (p.Ala870=)
c.1844C= (p.Ala615=)
c.2438C= (p.Ala813=)
c.2456C= (p.Ala819=)
c.887C= (p.Ala296=)
c.1298C= (p.Ala433=)
c.2399C= (p.Ala800=)
c.2486C= (p.Ala829=)
c.2417C= (p.Ala806=)
c.1949C= (p.Ala650=)
Xg.41524033G>TCA10389985CASKc.2471C>A (p.Ala824Glu)
c.2468C>A (p.Ala823Glu)
c.2522C>A (p.Ala841Glu)
c.2420C>A (p.Ala807Glu)
c.2525C>A (p.Ala842Glu)
c.1142C>A (p.Ala381Glu)
c.2453C>A (p.Ala818Glu)
c.2384C>A (p.Ala795Glu)
n.1301C>A
n.681C>A
c.294C>A
c.2504C>A (p.Ala835Glu)
c.2435C>A (p.Ala812Glu)
c.2507C>A (p.Ala836Glu)
n.2753C>A
c.2609C>A (p.Ala870Glu)
c.1844C>A (p.Ala615Glu)
c.2438C>A (p.Ala813Glu)
c.2456C>A (p.Ala819Glu)
c.887C>A (p.Ala296Glu)
c.1298C>A (p.Ala433Glu)
c.2399C>A (p.Ala800Glu)
c.2486C>A (p.Ala829Glu)
c.2417C>A (p.Ala806Glu)
c.1949C>A (p.Ala650Glu)
 dbSNP ExAC gnomAD v4
Xg.41524034C>ACA412989303CASKc.2470G>T (p.Ala824Ser)
c.2467G>T (p.Ala823Ser)
c.2521G>T (p.Ala841Ser)
c.2419G>T (p.Ala807Ser)
c.2524G>T (p.Ala842Ser)
c.1141G>T (p.Ala381Ser)
c.2452G>T (p.Ala818Ser)
c.2383G>T (p.Ala795Ser)
n.1300G>T
n.680G>T
c.293G>T
c.2503G>T (p.Ala835Ser)
c.2434G>T (p.Ala812Ser)
c.2506G>T (p.Ala836Ser)
n.2752G>T
c.2608G>T (p.Ala870Ser)
c.1843G>T (p.Ala615Ser)
c.2437G>T (p.Ala813Ser)
c.2455G>T (p.Ala819Ser)
c.886G>T (p.Ala296Ser)
c.1297G>T (p.Ala433Ser)
c.2398G>T (p.Ala800Ser)
c.2485G>T (p.Ala829Ser)
c.2416G>T (p.Ala806Ser)
c.1948G>T (p.Ala650Ser)
 gnomAD v4
Xg.41524034C>GCA412989305CASKc.2470G>C (p.Ala824Pro)
c.2467G>C (p.Ala823Pro)
c.2521G>C (p.Ala841Pro)
c.2419G>C (p.Ala807Pro)
c.2524G>C (p.Ala842Pro)
c.1141G>C (p.Ala381Pro)
c.2452G>C (p.Ala818Pro)
c.2383G>C (p.Ala795Pro)
n.1300G>C
n.680G>C
c.293G>C
c.2503G>C (p.Ala835Pro)
c.2434G>C (p.Ala812Pro)
c.2506G>C (p.Ala836Pro)
n.2752G>C
c.2608G>C (p.Ala870Pro)
c.1843G>C (p.Ala615Pro)
c.2437G>C (p.Ala813Pro)
c.2455G>C (p.Ala819Pro)
c.886G>C (p.Ala296Pro)
c.1297G>C (p.Ala433Pro)
c.2398G>C (p.Ala800Pro)
c.2485G>C (p.Ala829Pro)
c.2416G>C (p.Ala806Pro)
c.1948G>C (p.Ala650Pro)
 gnomAD v4
Xg.41524034C>TCA412989307CASKc.2470G>A (p.Ala824Thr)
c.2467G>A (p.Ala823Thr)
c.2521G>A (p.Ala841Thr)
c.2419G>A (p.Ala807Thr)
c.2524G>A (p.Ala842Thr)
c.1141G>A (p.Ala381Thr)
c.2452G>A (p.Ala818Thr)
c.2383G>A (p.Ala795Thr)
n.1300G>A
n.680G>A
c.293G>A
c.2503G>A (p.Ala835Thr)
c.2434G>A (p.Ala812Thr)
c.2506G>A (p.Ala836Thr)
n.2752G>A
c.2608G>A (p.Ala870Thr)
c.1843G>A (p.Ala615Thr)
c.2437G>A (p.Ala813Thr)
c.2455G>A (p.Ala819Thr)
c.886G>A (p.Ala296Thr)
c.1297G>A (p.Ala433Thr)
c.2398G>A (p.Ala800Thr)
c.2485G>A (p.Ala829Thr)
c.2416G>A (p.Ala806Thr)
c.1948G>A (p.Ala650Thr)
 gnomAD v4
Xg.41524034_41524041delCA913184129CASKc.2470-7_2470del
c.2467-7_2467del
c.2521-7_2521del
c.2419-7_2419del
c.2524-7_2524del
c.1141-7_1141del
c.2452-7_2452del
c.2383-7_2383del
n.1300-7_1300del
n.673_680del
c.293-7_293del
c.2503-7_2503del
c.2434-7_2434del
c.2506-7_2506del
n.2752-7_2752del
c.2608-7_2608del
c.1843-7_1843del
c.2437-7_2437del
c.2455-7_2455del
c.886-7_886del
c.1297-7_1297del
c.2398-7_2398del
c.2485-7_2485del
c.2416-7_2416del
c.1948-7_1948del
 gnomAD v4
Xg.41524035C>ACA412989308CASKc.2470-1G>T (n.2470-1G>T)
c.2467-1G>T (n.2467-1G>T)
c.2521-1G>T (n.2521-1G>T)
c.2419-1G>T (n.2419-1G>T)
c.2524-1G>T (n.2524-1G>T)
c.1141-1G>T (n.1141-1G>T)
c.2452-1G>T (n.2452-1G>T)
c.2383-1G>T (n.2383-1G>T)
n.1300-1G>T
n.679G>T
c.293-1G>T
c.2503-1G>T (n.2503-1G>T)
c.2434-1G>T (n.2434-1G>T)
c.2506-1G>T (n.2506-1G>T)
n.2752-1G>T
c.2608-1G>T (n.2608-1G>T)
c.1843-1G>T (n.1843-1G>T)
c.2437-1G>T (n.2437-1G>T)
c.2455-1G>T (n.2455-1G>T)
c.886-1G>T (n.886-1G>T)
c.1297-1G>T (n.1297-1G>T)
c.2398-1G>T (n.2398-1G>T)
c.2485-1G>T (n.2485-1G>T)
c.2416-1G>T (n.2416-1G>T)
c.1948-1G>T (n.1948-1G>T)
 gnomAD v4
Xg.41524035C>GCA412989310CASKc.2470-1G>C (n.2470-1G>C)
c.2467-1G>C (n.2467-1G>C)
c.2521-1G>C (n.2521-1G>C)
c.2419-1G>C (n.2419-1G>C)
c.2524-1G>C (n.2524-1G>C)
c.1141-1G>C (n.1141-1G>C)
c.2452-1G>C (n.2452-1G>C)
c.2383-1G>C (n.2383-1G>C)
n.1300-1G>C
n.679G>C
c.293-1G>C
c.2503-1G>C (n.2503-1G>C)
c.2434-1G>C (n.2434-1G>C)
c.2506-1G>C (n.2506-1G>C)
n.2752-1G>C
c.2608-1G>C (n.2608-1G>C)
c.1843-1G>C (n.1843-1G>C)
c.2437-1G>C (n.2437-1G>C)
c.2455-1G>C (n.2455-1G>C)
c.886-1G>C (n.886-1G>C)
c.1297-1G>C (n.1297-1G>C)
c.2398-1G>C (n.2398-1G>C)
c.2485-1G>C (n.2485-1G>C)
c.2416-1G>C (n.2416-1G>C)
c.1948-1G>C (n.1948-1G>C)
Xg.41524035C>TCA412989311CASKc.2470-1G>A (n.2470-1G>A)
c.2467-1G>A (n.2467-1G>A)
c.2521-1G>A (n.2521-1G>A)
c.2419-1G>A (n.2419-1G>A)
c.2524-1G>A (n.2524-1G>A)
c.1141-1G>A (n.1141-1G>A)
c.2452-1G>A (n.2452-1G>A)
c.2383-1G>A (n.2383-1G>A)
n.1300-1G>A
n.679G>A
c.293-1G>A
c.2503-1G>A (n.2503-1G>A)
c.2434-1G>A (n.2434-1G>A)
c.2506-1G>A (n.2506-1G>A)
n.2752-1G>A
c.2608-1G>A (n.2608-1G>A)
c.1843-1G>A (n.1843-1G>A)
c.2437-1G>A (n.2437-1G>A)
c.2455-1G>A (n.2455-1G>A)
c.886-1G>A (n.886-1G>A)
c.1297-1G>A (n.1297-1G>A)
c.2398-1G>A (n.2398-1G>A)
c.2485-1G>A (n.2485-1G>A)
c.2416-1G>A (n.2416-1G>A)
c.1948-1G>A (n.1948-1G>A)
 gnomAD v4
Xg.41524035_41524041delCA2820588815CASKc.2470-7_2470-1del (n.2470-7_2470-1del)
c.2467-7_2467-1del (n.2467-7_2467-1del)
c.2521-7_2521-1del (n.2521-7_2521-1del)
c.2419-7_2419-1del (n.2419-7_2419-1del)
c.2524-7_2524-1del (n.2524-7_2524-1del)
c.1141-7_1141-1del (n.1141-7_1141-1del)
c.2452-7_2452-1del (n.2452-7_2452-1del)
c.2383-7_2383-1del (n.2383-7_2383-1del)
n.1300-7_1300-1del
n.673_679del
c.293-7_293-1del
c.2503-7_2503-1del (n.2503-7_2503-1del)
c.2434-7_2434-1del (n.2434-7_2434-1del)
c.2506-7_2506-1del (n.2506-7_2506-1del)
n.2752-7_2752-1del
c.2608-7_2608-1del (n.2608-7_2608-1del)
c.1843-7_1843-1del (n.1843-7_1843-1del)
c.2437-7_2437-1del (n.2437-7_2437-1del)
c.2455-7_2455-1del (n.2455-7_2455-1del)
c.886-7_886-1del (n.886-7_886-1del)
c.1297-7_1297-1del (n.1297-7_1297-1del)
c.2398-7_2398-1del (n.2398-7_2398-1del)
c.2485-7_2485-1del (n.2485-7_2485-1del)
c.2416-7_2416-1del (n.2416-7_2416-1del)
c.1948-7_1948-1del (n.1948-7_1948-1del)
Xg.41524036T>ACA128782CASKc.2470-2A>T (n.2470-2A>T)
c.2467-2A>T (n.2467-2A>T)
c.2521-2A>T (n.2521-2A>T)
c.2419-2A>T (n.2419-2A>T)
c.2524-2A>T (n.2524-2A>T)
c.1141-2A>T (n.1141-2A>T)
c.2452-2A>T (n.2452-2A>T)
c.2383-2A>T (n.2383-2A>T)
n.1300-2A>T
n.678A>T
c.293-2A>T
c.2503-2A>T (n.2503-2A>T)
c.2434-2A>T (n.2434-2A>T)
c.2506-2A>T (n.2506-2A>T)
n.2752-2A>T
c.2608-2A>T (n.2608-2A>T)
c.1843-2A>T (n.1843-2A>T)
c.2437-2A>T (n.2437-2A>T)
c.2455-2A>T (n.2455-2A>T)
c.886-2A>T (n.886-2A>T)
c.1297-2A>T (n.1297-2A>T)
c.2398-2A>T (n.2398-2A>T)
c.2485-2A>T (n.2485-2A>T)
c.2416-2A>T (n.2416-2A>T)
c.1948-2A>T (n.1948-2A>T)
 ClinVar dbSNP gnomAD v4
Xg.41524036T>CCA10588782CASKc.2470-2A>G (n.2470-2A>G)
c.2467-2A>G (n.2467-2A>G)
c.2521-2A>G (n.2521-2A>G)
c.2419-2A>G (n.2419-2A>G)
c.2524-2A>G (n.2524-2A>G)
c.1141-2A>G (n.1141-2A>G)
c.2452-2A>G (n.2452-2A>G)
c.2383-2A>G (n.2383-2A>G)
n.1300-2A>G
n.678A>G
c.293-2A>G
c.2503-2A>G (n.2503-2A>G)
c.2434-2A>G (n.2434-2A>G)
c.2506-2A>G (n.2506-2A>G)
n.2752-2A>G
c.2608-2A>G (n.2608-2A>G)
c.1843-2A>G (n.1843-2A>G)
c.2437-2A>G (n.2437-2A>G)
c.2455-2A>G (n.2455-2A>G)
c.886-2A>G (n.886-2A>G)
c.1297-2A>G (n.1297-2A>G)
c.2398-2A>G (n.2398-2A>G)
c.2485-2A>G (n.2485-2A>G)
c.2416-2A>G (n.2416-2A>G)
c.1948-2A>G (n.1948-2A>G)
 ClinVar dbSNP gnomAD v4
Xg.41524036T>GCA412989314CASKc.2470-2A>C (n.2470-2A>C)
c.2467-2A>C (n.2467-2A>C)
c.2521-2A>C (n.2521-2A>C)
c.2419-2A>C (n.2419-2A>C)
c.2524-2A>C (n.2524-2A>C)
c.1141-2A>C (n.1141-2A>C)
c.2452-2A>C (n.2452-2A>C)
c.2383-2A>C (n.2383-2A>C)
n.1300-2A>C
n.678A>C
c.293-2A>C
c.2503-2A>C (n.2503-2A>C)
c.2434-2A>C (n.2434-2A>C)
c.2506-2A>C (n.2506-2A>C)
n.2752-2A>C
c.2608-2A>C (n.2608-2A>C)
c.1843-2A>C (n.1843-2A>C)
c.2437-2A>C (n.2437-2A>C)
c.2455-2A>C (n.2455-2A>C)
c.886-2A>C (n.886-2A>C)
c.1297-2A>C (n.1297-2A>C)
c.2398-2A>C (n.2398-2A>C)
c.2485-2A>C (n.2485-2A>C)
c.2416-2A>C (n.2416-2A>C)
c.1948-2A>C (n.1948-2A>C)
 gnomAD v4
Xg.41524036T=CA2425945459CASKc.2470-2A= (n.2470-2A=)
c.2467-2A= (n.2467-2A=)
c.2521-2A= (n.2521-2A=)
c.2419-2A= (n.2419-2A=)
c.2524-2A= (n.2524-2A=)
c.1141-2A= (n.1141-2A=)
c.2452-2A= (n.2452-2A=)
c.2383-2A= (n.2383-2A=)
n.1300-2A=
n.678A=
c.293-2A=
c.2503-2A= (n.2503-2A=)
c.2434-2A= (n.2434-2A=)
c.2506-2A= (n.2506-2A=)
n.2752-2A=
c.2608-2A= (n.2608-2A=)
c.1843-2A= (n.1843-2A=)
c.2437-2A= (n.2437-2A=)
c.2455-2A= (n.2455-2A=)
c.886-2A= (n.886-2A=)
c.1297-2A= (n.1297-2A=)
c.2398-2A= (n.2398-2A=)
c.2485-2A= (n.2485-2A=)
c.2416-2A= (n.2416-2A=)
c.1948-2A= (n.1948-2A=)
Xg.41524036_41524041delCA2820588816CASKc.2470-7_2470-2del (n.2470-7_2470-2del)
c.2467-7_2467-2del (n.2467-7_2467-2del)
c.2521-7_2521-2del (n.2521-7_2521-2del)
c.2419-7_2419-2del (n.2419-7_2419-2del)
c.2524-7_2524-2del (n.2524-7_2524-2del)
c.1141-7_1141-2del (n.1141-7_1141-2del)
c.2452-7_2452-2del (n.2452-7_2452-2del)
c.2383-7_2383-2del (n.2383-7_2383-2del)
n.1300-7_1300-2del
n.673_678del
c.293-7_293-2del
c.2503-7_2503-2del (n.2503-7_2503-2del)
c.2434-7_2434-2del (n.2434-7_2434-2del)
c.2506-7_2506-2del (n.2506-7_2506-2del)
n.2752-7_2752-2del
c.2608-7_2608-2del (n.2608-7_2608-2del)
c.1843-7_1843-2del (n.1843-7_1843-2del)
c.2437-7_2437-2del (n.2437-7_2437-2del)
c.2455-7_2455-2del (n.2455-7_2455-2del)
c.886-7_886-2del (n.886-7_886-2del)
c.1297-7_1297-2del (n.1297-7_1297-2del)
c.2398-7_2398-2del (n.2398-7_2398-2del)
c.2485-7_2485-2del (n.2485-7_2485-2del)
c.2416-7_2416-2del (n.2416-7_2416-2del)
c.1948-7_1948-2del (n.1948-7_1948-2del)
Xg.41524037_41524041delCA2579588817CASKc.2470-6_2470-2del (n.2470-6_2470-2del)
c.2467-6_2467-2del (n.2467-6_2467-2del)
c.2521-6_2521-2del (n.2521-6_2521-2del)
c.2419-6_2419-2del (n.2419-6_2419-2del)
c.2524-6_2524-2del (n.2524-6_2524-2del)
c.1141-6_1141-2del (n.1141-6_1141-2del)
c.2452-6_2452-2del (n.2452-6_2452-2del)
c.2383-6_2383-2del (n.2383-6_2383-2del)
n.1300-6_1300-2del
n.674_678del
c.293-6_293-2del
c.2503-6_2503-2del (n.2503-6_2503-2del)
c.2434-6_2434-2del (n.2434-6_2434-2del)
c.2506-6_2506-2del (n.2506-6_2506-2del)
n.2752-6_2752-2del
c.2608-6_2608-2del (n.2608-6_2608-2del)
c.1843-6_1843-2del (n.1843-6_1843-2del)
c.2437-6_2437-2del (n.2437-6_2437-2del)
c.2455-6_2455-2del (n.2455-6_2455-2del)
c.886-6_886-2del (n.886-6_886-2del)
c.1297-6_1297-2del (n.1297-6_1297-2del)
c.2398-6_2398-2del (n.2398-6_2398-2del)
c.2485-6_2485-2del (n.2485-6_2485-2del)
c.2416-6_2416-2del (n.2416-6_2416-2del)
c.1948-6_1948-2del (n.1948-6_1948-2del)
 gnomAD v4
Xg.41524037G>ACA2579588818CASKc.2470-3C>T (n.2470-3C>T)
c.2467-3C>T (n.2467-3C>T)
c.2521-3C>T (n.2521-3C>T)
c.2419-3C>T (n.2419-3C>T)
c.2524-3C>T (n.2524-3C>T)
c.1141-3C>T (n.1141-3C>T)
c.2452-3C>T (n.2452-3C>T)
c.2383-3C>T (n.2383-3C>T)
n.1300-3C>T
n.677C>T
c.293-3C>T
c.2503-3C>T (n.2503-3C>T)
c.2434-3C>T (n.2434-3C>T)
c.2506-3C>T (n.2506-3C>T)
n.2752-3C>T
c.2608-3C>T (n.2608-3C>T)
c.1843-3C>T (n.1843-3C>T)
c.2437-3C>T (n.2437-3C>T)
c.2455-3C>T (n.2455-3C>T)
c.886-3C>T (n.886-3C>T)
c.1297-3C>T (n.1297-3C>T)
c.2398-3C>T (n.2398-3C>T)
c.2485-3C>T (n.2485-3C>T)
c.2416-3C>T (n.2416-3C>T)
c.1948-3C>T (n.1948-3C>T)
 gnomAD v4
Xg.41524037G=CA2425945460CASKc.2470-3C= (n.2470-3C=)
c.2467-3C= (n.2467-3C=)
c.2521-3C= (n.2521-3C=)
c.2419-3C= (n.2419-3C=)
c.2524-3C= (n.2524-3C=)
c.1141-3C= (n.1141-3C=)
c.2452-3C= (n.2452-3C=)
c.2383-3C= (n.2383-3C=)
n.1300-3C=
n.677C=
c.293-3C=
c.2503-3C= (n.2503-3C=)
c.2434-3C= (n.2434-3C=)
c.2506-3C= (n.2506-3C=)
n.2752-3C=
c.2608-3C= (n.2608-3C=)
c.1843-3C= (n.1843-3C=)
c.2437-3C= (n.2437-3C=)
c.2455-3C= (n.2455-3C=)
c.886-3C= (n.886-3C=)
c.1297-3C= (n.1297-3C=)
c.2398-3C= (n.2398-3C=)
c.2485-3C= (n.2485-3C=)
c.2416-3C= (n.2416-3C=)
c.1948-3C= (n.1948-3C=)
Xg.41524037G>TCA10389986CASKc.2470-3C>A (n.2470-3C>A)
c.2467-3C>A (n.2467-3C>A)
c.2521-3C>A (n.2521-3C>A)
c.2419-3C>A (n.2419-3C>A)
c.2524-3C>A (n.2524-3C>A)
c.1141-3C>A (n.1141-3C>A)
c.2452-3C>A (n.2452-3C>A)
c.2383-3C>A (n.2383-3C>A)
n.1300-3C>A
n.677C>A
c.293-3C>A
c.2503-3C>A (n.2503-3C>A)
c.2434-3C>A (n.2434-3C>A)
c.2506-3C>A (n.2506-3C>A)
n.2752-3C>A
c.2608-3C>A (n.2608-3C>A)
c.1843-3C>A (n.1843-3C>A)
c.2437-3C>A (n.2437-3C>A)
c.2455-3C>A (n.2455-3C>A)
c.886-3C>A (n.886-3C>A)
c.1297-3C>A (n.1297-3C>A)
c.2398-3C>A (n.2398-3C>A)
c.2485-3C>A (n.2485-3C>A)
c.2416-3C>A (n.2416-3C>A)
c.1948-3C>A (n.1948-3C>A)
 dbSNP ExAC gnomAD v4
Xg.41524037_41524039dupCA2693493304CASKc.2470-5_2470-3dup (n.2470-5_2470-3dup)
c.2467-5_2467-3dup (n.2467-5_2467-3dup)
c.2521-5_2521-3dup (n.2521-5_2521-3dup)
c.2419-5_2419-3dup (n.2419-5_2419-3dup)
c.2524-5_2524-3dup (n.2524-5_2524-3dup)
c.1141-5_1141-3dup (n.1141-5_1141-3dup)
c.2452-5_2452-3dup (n.2452-5_2452-3dup)
c.2383-5_2383-3dup (n.2383-5_2383-3dup)
n.1300-5_1300-3dup
n.675_677dup
c.293-5_293-3dup
c.2503-5_2503-3dup (n.2503-5_2503-3dup)
c.2434-5_2434-3dup (n.2434-5_2434-3dup)
c.2506-5_2506-3dup (n.2506-5_2506-3dup)
n.2752-5_2752-3dup
c.2608-5_2608-3dup (n.2608-5_2608-3dup)
c.1843-5_1843-3dup (n.1843-5_1843-3dup)
c.2437-5_2437-3dup (n.2437-5_2437-3dup)
c.2455-5_2455-3dup (n.2455-5_2455-3dup)
c.886-5_886-3dup (n.886-5_886-3dup)
c.1297-5_1297-3dup (n.1297-5_1297-3dup)
c.2398-5_2398-3dup (n.2398-5_2398-3dup)
c.2485-5_2485-3dup (n.2485-5_2485-3dup)
c.2416-5_2416-3dup (n.2416-5_2416-3dup)
c.1948-5_1948-3dup (n.1948-5_1948-3dup)
 gnomAD v4
Xg.41524038T>ACA2693493306CASKc.2470-4A>T (n.2470-4A>T)
c.2467-4A>T (n.2467-4A>T)
c.2521-4A>T (n.2521-4A>T)
c.2419-4A>T (n.2419-4A>T)
c.2524-4A>T (n.2524-4A>T)
c.1141-4A>T (n.1141-4A>T)
c.2452-4A>T (n.2452-4A>T)
c.2383-4A>T (n.2383-4A>T)
n.1300-4A>T
n.676A>T
c.293-4A>T
c.2503-4A>T (n.2503-4A>T)
c.2434-4A>T (n.2434-4A>T)
c.2506-4A>T (n.2506-4A>T)
n.2752-4A>T
c.2608-4A>T (n.2608-4A>T)
c.1843-4A>T (n.1843-4A>T)
c.2437-4A>T (n.2437-4A>T)
c.2455-4A>T (n.2455-4A>T)
c.886-4A>T (n.886-4A>T)
c.1297-4A>T (n.1297-4A>T)
c.2398-4A>T (n.2398-4A>T)
c.2485-4A>T (n.2485-4A>T)
c.2416-4A>T (n.2416-4A>T)
c.1948-4A>T (n.1948-4A>T)
 gnomAD v4
Xg.41524038T>CCA2540300666CASKc.2470-4A>G (n.2470-4A>G)
c.2467-4A>G (n.2467-4A>G)
c.2521-4A>G (n.2521-4A>G)
c.2419-4A>G (n.2419-4A>G)
c.2524-4A>G (n.2524-4A>G)
c.1141-4A>G (n.1141-4A>G)
c.2452-4A>G (n.2452-4A>G)
c.2383-4A>G (n.2383-4A>G)
n.1300-4A>G
n.676A>G
c.293-4A>G
c.2503-4A>G (n.2503-4A>G)
c.2434-4A>G (n.2434-4A>G)
c.2506-4A>G (n.2506-4A>G)
n.2752-4A>G
c.2608-4A>G (n.2608-4A>G)
c.1843-4A>G (n.1843-4A>G)
c.2437-4A>G (n.2437-4A>G)
c.2455-4A>G (n.2455-4A>G)
c.886-4A>G (n.886-4A>G)
c.1297-4A>G (n.1297-4A>G)
c.2398-4A>G (n.2398-4A>G)
c.2485-4A>G (n.2485-4A>G)
c.2416-4A>G (n.2416-4A>G)
c.1948-4A>G (n.1948-4A>G)
 gnomAD v4
Xg.41524038T>GCA10389987CASKc.2470-4A>C (n.2470-4A>C)
c.2467-4A>C (n.2467-4A>C)
c.2521-4A>C (n.2521-4A>C)
c.2419-4A>C (n.2419-4A>C)
c.2524-4A>C (n.2524-4A>C)
c.1141-4A>C (n.1141-4A>C)
c.2452-4A>C (n.2452-4A>C)
c.2383-4A>C (n.2383-4A>C)
n.1300-4A>C
n.676A>C
c.293-4A>C
c.2503-4A>C (n.2503-4A>C)
c.2434-4A>C (n.2434-4A>C)
c.2506-4A>C (n.2506-4A>C)
n.2752-4A>C
c.2608-4A>C (n.2608-4A>C)
c.1843-4A>C (n.1843-4A>C)
c.2437-4A>C (n.2437-4A>C)
c.2455-4A>C (n.2455-4A>C)
c.886-4A>C (n.886-4A>C)
c.1297-4A>C (n.1297-4A>C)
c.2398-4A>C (n.2398-4A>C)
c.2485-4A>C (n.2485-4A>C)
c.2416-4A>C (n.2416-4A>C)
c.1948-4A>C (n.1948-4A>C)
 dbSNP ExAC gnomAD v4
Xg.41524038T=CA2425945461CASKc.2470-4A= (n.2470-4A=)
c.2467-4A= (n.2467-4A=)
c.2521-4A= (n.2521-4A=)
c.2419-4A= (n.2419-4A=)
c.2524-4A= (n.2524-4A=)
c.1141-4A= (n.1141-4A=)
c.2452-4A= (n.2452-4A=)
c.2383-4A= (n.2383-4A=)
n.1300-4A=
n.676A=
c.293-4A=
c.2503-4A= (n.2503-4A=)
c.2434-4A= (n.2434-4A=)
c.2506-4A= (n.2506-4A=)
n.2752-4A=
c.2608-4A= (n.2608-4A=)
c.1843-4A= (n.1843-4A=)
c.2437-4A= (n.2437-4A=)
c.2455-4A= (n.2455-4A=)
c.886-4A= (n.886-4A=)
c.1297-4A= (n.1297-4A=)
c.2398-4A= (n.2398-4A=)
c.2485-4A= (n.2485-4A=)
c.2416-4A= (n.2416-4A=)
c.1948-4A= (n.1948-4A=)
Xg.41524038_41524041delCA2693493305CASKc.2470-7_2470-4del (n.2470-7_2470-4del)
c.2467-7_2467-4del (n.2467-7_2467-4del)
c.2521-7_2521-4del (n.2521-7_2521-4del)
c.2419-7_2419-4del (n.2419-7_2419-4del)
c.2524-7_2524-4del (n.2524-7_2524-4del)
c.1141-7_1141-4del (n.1141-7_1141-4del)
c.2452-7_2452-4del (n.2452-7_2452-4del)
c.2383-7_2383-4del (n.2383-7_2383-4del)
n.1300-7_1300-4del
n.673_676del
c.293-7_293-4del
c.2503-7_2503-4del (n.2503-7_2503-4del)
c.2434-7_2434-4del (n.2434-7_2434-4del)
c.2506-7_2506-4del (n.2506-7_2506-4del)
n.2752-7_2752-4del
c.2608-7_2608-4del (n.2608-7_2608-4del)
c.1843-7_1843-4del (n.1843-7_1843-4del)
c.2437-7_2437-4del (n.2437-7_2437-4del)
c.2455-7_2455-4del (n.2455-7_2455-4del)
c.886-7_886-4del (n.886-7_886-4del)
c.1297-7_1297-4del (n.1297-7_1297-4del)
c.2398-7_2398-4del (n.2398-7_2398-4del)
c.2485-7_2485-4del (n.2485-7_2485-4del)
c.2416-7_2416-4del (n.2416-7_2416-4del)
c.1948-7_1948-4del (n.1948-7_1948-4del)
 gnomAD v4
Xg.41524039G>ACA2693493307CASKc.2470-5C>T (n.2470-5C>T)
c.2467-5C>T (n.2467-5C>T)
c.2521-5C>T (n.2521-5C>T)
c.2419-5C>T (n.2419-5C>T)
c.2524-5C>T (n.2524-5C>T)
c.1141-5C>T (n.1141-5C>T)
c.2452-5C>T (n.2452-5C>T)
c.2383-5C>T (n.2383-5C>T)
n.1300-5C>T
n.675C>T
c.293-5C>T
c.2503-5C>T (n.2503-5C>T)
c.2434-5C>T (n.2434-5C>T)
c.2506-5C>T (n.2506-5C>T)
n.2752-5C>T
c.2608-5C>T (n.2608-5C>T)
c.1843-5C>T (n.1843-5C>T)
c.2437-5C>T (n.2437-5C>T)
c.2455-5C>T (n.2455-5C>T)
c.886-5C>T (n.886-5C>T)
c.1297-5C>T (n.1297-5C>T)
c.2398-5C>T (n.2398-5C>T)
c.2485-5C>T (n.2485-5C>T)
c.2416-5C>T (n.2416-5C>T)
c.1948-5C>T (n.1948-5C>T)
 gnomAD v4
Xg.41524039G=CA2425945462CASKc.2470-5C= (n.2470-5C=)
c.2467-5C= (n.2467-5C=)
c.2521-5C= (n.2521-5C=)
c.2419-5C= (n.2419-5C=)
c.2524-5C= (n.2524-5C=)
c.1141-5C= (n.1141-5C=)
c.2452-5C= (n.2452-5C=)
c.2383-5C= (n.2383-5C=)
n.1300-5C=
n.675C=
c.293-5C=
c.2503-5C= (n.2503-5C=)
c.2434-5C= (n.2434-5C=)
c.2506-5C= (n.2506-5C=)
n.2752-5C=
c.2608-5C= (n.2608-5C=)
c.1843-5C= (n.1843-5C=)
c.2437-5C= (n.2437-5C=)
c.2455-5C= (n.2455-5C=)
c.886-5C= (n.886-5C=)
c.1297-5C= (n.1297-5C=)
c.2398-5C= (n.2398-5C=)
c.2485-5C= (n.2485-5C=)
c.2416-5C= (n.2416-5C=)
c.1948-5C= (n.1948-5C=)
Xg.41524039G>TCA10389988CASKc.2470-5C>A (n.2470-5C>A)
c.2467-5C>A (n.2467-5C>A)
c.2521-5C>A (n.2521-5C>A)
c.2419-5C>A (n.2419-5C>A)
c.2524-5C>A (n.2524-5C>A)
c.1141-5C>A (n.1141-5C>A)
c.2452-5C>A (n.2452-5C>A)
c.2383-5C>A (n.2383-5C>A)
n.1300-5C>A
n.675C>A
c.293-5C>A
c.2503-5C>A (n.2503-5C>A)
c.2434-5C>A (n.2434-5C>A)
c.2506-5C>A (n.2506-5C>A)
n.2752-5C>A
c.2608-5C>A (n.2608-5C>A)
c.1843-5C>A (n.1843-5C>A)
c.2437-5C>A (n.2437-5C>A)
c.2455-5C>A (n.2455-5C>A)
c.886-5C>A (n.886-5C>A)
c.1297-5C>A (n.1297-5C>A)
c.2398-5C>A (n.2398-5C>A)
c.2485-5C>A (n.2485-5C>A)
c.2416-5C>A (n.2416-5C>A)
c.1948-5C>A (n.1948-5C>A)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.41524040T>ACA1132578421CASKc.2470-6A>T (n.2470-6A>T)
c.2467-6A>T (n.2467-6A>T)
c.2521-6A>T (n.2521-6A>T)
c.2419-6A>T (n.2419-6A>T)
c.2524-6A>T (n.2524-6A>T)
c.1141-6A>T (n.1141-6A>T)
c.2452-6A>T (n.2452-6A>T)
c.2383-6A>T (n.2383-6A>T)
n.1300-6A>T
n.674A>T
c.293-6A>T
c.2503-6A>T (n.2503-6A>T)
c.2434-6A>T (n.2434-6A>T)
c.2506-6A>T (n.2506-6A>T)
n.2752-6A>T
c.2608-6A>T (n.2608-6A>T)
c.1843-6A>T (n.1843-6A>T)
c.2437-6A>T (n.2437-6A>T)
c.2455-6A>T (n.2455-6A>T)
c.886-6A>T (n.886-6A>T)
c.1297-6A>T (n.1297-6A>T)
c.2398-6A>T (n.2398-6A>T)
c.2485-6A>T (n.2485-6A>T)
c.2416-6A>T (n.2416-6A>T)
c.1948-6A>T (n.1948-6A>T)
 gnomAD v3 gnomAD v4
Xg.41524040T>CCA2580617532CASKc.2470-6A>G (n.2470-6A>G)
c.2467-6A>G (n.2467-6A>G)
c.2521-6A>G (n.2521-6A>G)
c.2419-6A>G (n.2419-6A>G)
c.2524-6A>G (n.2524-6A>G)
c.1141-6A>G (n.1141-6A>G)
c.2452-6A>G (n.2452-6A>G)
c.2383-6A>G (n.2383-6A>G)
n.1300-6A>G
n.674A>G
c.293-6A>G
c.2503-6A>G (n.2503-6A>G)
c.2434-6A>G (n.2434-6A>G)
c.2506-6A>G (n.2506-6A>G)
n.2752-6A>G
c.2608-6A>G (n.2608-6A>G)
c.1843-6A>G (n.1843-6A>G)
c.2437-6A>G (n.2437-6A>G)
c.2455-6A>G (n.2455-6A>G)
c.886-6A>G (n.886-6A>G)
c.1297-6A>G (n.1297-6A>G)
c.2398-6A>G (n.2398-6A>G)
c.2485-6A>G (n.2485-6A>G)
c.2416-6A>G (n.2416-6A>G)
c.1948-6A>G (n.1948-6A>G)
 ClinVar gnomAD v4
Xg.41524040T=CA2425945463CASKc.2470-6A= (n.2470-6A=)
c.2467-6A= (n.2467-6A=)
c.2521-6A= (n.2521-6A=)
c.2419-6A= (n.2419-6A=)
c.2524-6A= (n.2524-6A=)
c.1141-6A= (n.1141-6A=)
c.2452-6A= (n.2452-6A=)
c.2383-6A= (n.2383-6A=)
n.1300-6A=
n.674A=
c.293-6A=
c.2503-6A= (n.2503-6A=)
c.2434-6A= (n.2434-6A=)
c.2506-6A= (n.2506-6A=)
n.2752-6A=
c.2608-6A= (n.2608-6A=)
c.1843-6A= (n.1843-6A=)
c.2437-6A= (n.2437-6A=)
c.2455-6A= (n.2455-6A=)
c.886-6A= (n.886-6A=)
c.1297-6A= (n.1297-6A=)
c.2398-6A= (n.2398-6A=)
c.2485-6A= (n.2485-6A=)
c.2416-6A= (n.2416-6A=)
c.1948-6A= (n.1948-6A=)
Xg.41524041delCA2693493308CASKc.2470-6del (n.2470-6del)
c.2467-6del (n.2467-6del)
c.2521-6del (n.2521-6del)
c.2419-6del (n.2419-6del)
c.2524-6del (n.2524-6del)
c.1141-6del (n.1141-6del)
c.2452-6del (n.2452-6del)
c.2383-6del (n.2383-6del)
n.1300-6del
n.674del
c.293-6del
c.2503-6del (n.2503-6del)
c.2434-6del (n.2434-6del)
c.2506-6del (n.2506-6del)
n.2752-6del
c.2608-6del (n.2608-6del)
c.1843-6del (n.1843-6del)
c.2437-6del (n.2437-6del)
c.2455-6del (n.2455-6del)
c.886-6del (n.886-6del)
c.1297-6del (n.1297-6del)
c.2398-6del (n.2398-6del)
c.2485-6del (n.2485-6del)
c.2416-6del (n.2416-6del)
c.1948-6del (n.1948-6del)
 gnomAD v4
Xg.41524040_41524041insACA1132578425CASKc.2470-7_2470-6insT (n.2470-7_2470-6insT)
c.2467-7_2467-6insT (n.2467-7_2467-6insT)
c.2521-7_2521-6insT (n.2521-7_2521-6insT)
c.2419-7_2419-6insT (n.2419-7_2419-6insT)
c.2524-7_2524-6insT (n.2524-7_2524-6insT)
c.1141-7_1141-6insT (n.1141-7_1141-6insT)
c.2452-7_2452-6insT (n.2452-7_2452-6insT)
c.2383-7_2383-6insT (n.2383-7_2383-6insT)
n.1300-7_1300-6insT
n.673_674insT
c.293-7_293-6insT
c.2503-7_2503-6insT (n.2503-7_2503-6insT)
c.2434-7_2434-6insT (n.2434-7_2434-6insT)
c.2506-7_2506-6insT (n.2506-7_2506-6insT)
n.2752-7_2752-6insT
c.2608-7_2608-6insT (n.2608-7_2608-6insT)
c.1843-7_1843-6insT (n.1843-7_1843-6insT)
c.2437-7_2437-6insT (n.2437-7_2437-6insT)
c.2455-7_2455-6insT (n.2455-7_2455-6insT)
c.886-7_886-6insT (n.886-7_886-6insT)
c.1297-7_1297-6insT (n.1297-7_1297-6insT)
c.2398-7_2398-6insT (n.2398-7_2398-6insT)
c.2485-7_2485-6insT (n.2485-7_2485-6insT)
c.2416-7_2416-6insT (n.2416-7_2416-6insT)
c.1948-7_1948-6insT (n.1948-7_1948-6insT)
 gnomAD v3 gnomAD v4
Xg.41524040_41524041insAACA2693493309CASKc.2470-7_2470-6insTT (n.2470-7_2470-6insTT)
c.2467-7_2467-6insTT (n.2467-7_2467-6insTT)
c.2521-7_2521-6insTT (n.2521-7_2521-6insTT)
c.2419-7_2419-6insTT (n.2419-7_2419-6insTT)
c.2524-7_2524-6insTT (n.2524-7_2524-6insTT)
c.1141-7_1141-6insTT (n.1141-7_1141-6insTT)
c.2452-7_2452-6insTT (n.2452-7_2452-6insTT)
c.2383-7_2383-6insTT (n.2383-7_2383-6insTT)
n.1300-7_1300-6insTT
n.673_674insTT
c.293-7_293-6insTT
c.2503-7_2503-6insTT (n.2503-7_2503-6insTT)
c.2434-7_2434-6insTT (n.2434-7_2434-6insTT)
c.2506-7_2506-6insTT (n.2506-7_2506-6insTT)
n.2752-7_2752-6insTT
c.2608-7_2608-6insTT (n.2608-7_2608-6insTT)
c.1843-7_1843-6insTT (n.1843-7_1843-6insTT)
c.2437-7_2437-6insTT (n.2437-7_2437-6insTT)
c.2455-7_2455-6insTT (n.2455-7_2455-6insTT)
c.886-7_886-6insTT (n.886-7_886-6insTT)
c.1297-7_1297-6insTT (n.1297-7_1297-6insTT)
c.2398-7_2398-6insTT (n.2398-7_2398-6insTT)
c.2485-7_2485-6insTT (n.2485-7_2485-6insTT)
c.2416-7_2416-6insTT (n.2416-7_2416-6insTT)
c.1948-7_1948-6insTT (n.1948-7_1948-6insTT)
 gnomAD v4
Xg.41524040_41524041insCAGTCCA641573786CASKc.2470-7_2470-6insGACTG (n.2470-7_2470-6insGACTG)
c.2467-7_2467-6insGACTG (n.2467-7_2467-6insGACTG)
c.2521-7_2521-6insGACTG (n.2521-7_2521-6insGACTG)
c.2419-7_2419-6insGACTG (n.2419-7_2419-6insGACTG)
c.2524-7_2524-6insGACTG (n.2524-7_2524-6insGACTG)
c.1141-7_1141-6insGACTG (n.1141-7_1141-6insGACTG)
c.2452-7_2452-6insGACTG (n.2452-7_2452-6insGACTG)
c.2383-7_2383-6insGACTG (n.2383-7_2383-6insGACTG)
n.1300-7_1300-6insGACTG
n.673_674insGACTG
c.293-7_293-6insGACTG
c.2503-7_2503-6insGACTG (n.2503-7_2503-6insGACTG)
c.2434-7_2434-6insGACTG (n.2434-7_2434-6insGACTG)
c.2506-7_2506-6insGACTG (n.2506-7_2506-6insGACTG)
n.2752-7_2752-6insGACTG
c.2608-7_2608-6insGACTG (n.2608-7_2608-6insGACTG)
c.1843-7_1843-6insGACTG (n.1843-7_1843-6insGACTG)
c.2437-7_2437-6insGACTG (n.2437-7_2437-6insGACTG)
c.2455-7_2455-6insGACTG (n.2455-7_2455-6insGACTG)
c.886-7_886-6insGACTG (n.886-7_886-6insGACTG)
c.1297-7_1297-6insGACTG (n.1297-7_1297-6insGACTG)
c.2398-7_2398-6insGACTG (n.2398-7_2398-6insGACTG)
c.2485-7_2485-6insGACTG (n.2485-7_2485-6insGACTG)
c.2416-7_2416-6insGACTG (n.2416-7_2416-6insGACTG)
c.1948-7_1948-6insGACTG (n.1948-7_1948-6insGACTG)
 dbSNP gnomAD v2
Xg.41524041T>ACA641573787CASKc.2470-7A>T (n.2470-7A>T)
c.2467-7A>T (n.2467-7A>T)
c.2521-7A>T (n.2521-7A>T)
c.2419-7A>T (n.2419-7A>T)
c.2524-7A>T (n.2524-7A>T)
c.1141-7A>T (n.1141-7A>T)
c.2452-7A>T (n.2452-7A>T)
c.2383-7A>T (n.2383-7A>T)
n.1300-7A>T
n.673A>T
c.293-7A>T
c.2503-7A>T (n.2503-7A>T)
c.2434-7A>T (n.2434-7A>T)
c.2506-7A>T (n.2506-7A>T)
n.2752-7A>T
c.2608-7A>T (n.2608-7A>T)
c.1843-7A>T (n.1843-7A>T)
c.2437-7A>T (n.2437-7A>T)
c.2455-7A>T (n.2455-7A>T)
c.886-7A>T (n.886-7A>T)
c.1297-7A>T (n.1297-7A>T)
c.2398-7A>T (n.2398-7A>T)
c.2485-7A>T (n.2485-7A>T)
c.2416-7A>T (n.2416-7A>T)
c.1948-7A>T (n.1948-7A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41524041T>CCA2425945465CASKc.2470-7A>G (n.2470-7A>G)
c.2467-7A>G (n.2467-7A>G)
c.2521-7A>G (n.2521-7A>G)
c.2419-7A>G (n.2419-7A>G)
c.2524-7A>G (n.2524-7A>G)
c.1141-7A>G (n.1141-7A>G)
c.2452-7A>G (n.2452-7A>G)
c.2383-7A>G (n.2383-7A>G)
n.1300-7A>G
n.673A>G
c.293-7A>G
c.2503-7A>G (n.2503-7A>G)
c.2434-7A>G (n.2434-7A>G)
c.2506-7A>G (n.2506-7A>G)
n.2752-7A>G
c.2608-7A>G (n.2608-7A>G)
c.1843-7A>G (n.1843-7A>G)
c.2437-7A>G (n.2437-7A>G)
c.2455-7A>G (n.2455-7A>G)
c.886-7A>G (n.886-7A>G)
c.1297-7A>G (n.1297-7A>G)
c.2398-7A>G (n.2398-7A>G)
c.2485-7A>G (n.2485-7A>G)
c.2416-7A>G (n.2416-7A>G)
c.1948-7A>G (n.1948-7A>G)
 dbSNP gnomAD v4
Xg.41524041T>GCA2693493311CASKc.2470-7A>C (n.2470-7A>C)
c.2467-7A>C (n.2467-7A>C)
c.2521-7A>C (n.2521-7A>C)
c.2419-7A>C (n.2419-7A>C)
c.2524-7A>C (n.2524-7A>C)
c.1141-7A>C (n.1141-7A>C)
c.2452-7A>C (n.2452-7A>C)
c.2383-7A>C (n.2383-7A>C)
n.1300-7A>C
n.673A>C
c.293-7A>C
c.2503-7A>C (n.2503-7A>C)
c.2434-7A>C (n.2434-7A>C)
c.2506-7A>C (n.2506-7A>C)
n.2752-7A>C
c.2608-7A>C (n.2608-7A>C)
c.1843-7A>C (n.1843-7A>C)
c.2437-7A>C (n.2437-7A>C)
c.2455-7A>C (n.2455-7A>C)
c.886-7A>C (n.886-7A>C)
c.1297-7A>C (n.1297-7A>C)
c.2398-7A>C (n.2398-7A>C)
c.2485-7A>C (n.2485-7A>C)
c.2416-7A>C (n.2416-7A>C)
c.1948-7A>C (n.1948-7A>C)
 gnomAD v4
Xg.41524041T=CA2425945464CASKc.2470-7A= (n.2470-7A=)
c.2467-7A= (n.2467-7A=)
c.2521-7A= (n.2521-7A=)
c.2419-7A= (n.2419-7A=)
c.2524-7A= (n.2524-7A=)
c.1141-7A= (n.1141-7A=)
c.2452-7A= (n.2452-7A=)
c.2383-7A= (n.2383-7A=)
n.1300-7A=
n.673A=
c.293-7A=
c.2503-7A= (n.2503-7A=)
c.2434-7A= (n.2434-7A=)
c.2506-7A= (n.2506-7A=)
n.2752-7A=
c.2608-7A= (n.2608-7A=)
c.1843-7A= (n.1843-7A=)
c.2437-7A= (n.2437-7A=)
c.2455-7A= (n.2455-7A=)
c.886-7A= (n.886-7A=)
c.1297-7A= (n.1297-7A=)
c.2398-7A= (n.2398-7A=)
c.2485-7A= (n.2485-7A=)
c.2416-7A= (n.2416-7A=)
c.1948-7A= (n.1948-7A=)
Xg.41524041_41524043dupCA2693493310CASKc.2470-9_2470-7dup (n.2470-9_2470-7dup)
c.2467-9_2467-7dup (n.2467-9_2467-7dup)
c.2521-9_2521-7dup (n.2521-9_2521-7dup)
c.2419-9_2419-7dup (n.2419-9_2419-7dup)
c.2524-9_2524-7dup (n.2524-9_2524-7dup)
c.1141-9_1141-7dup (n.1141-9_1141-7dup)
c.2452-9_2452-7dup (n.2452-9_2452-7dup)
c.2383-9_2383-7dup (n.2383-9_2383-7dup)
n.1300-9_1300-7dup
n.671_673dup
c.293-9_293-7dup
c.2503-9_2503-7dup (n.2503-9_2503-7dup)
c.2434-9_2434-7dup (n.2434-9_2434-7dup)
c.2506-9_2506-7dup (n.2506-9_2506-7dup)
n.2752-9_2752-7dup
c.2608-9_2608-7dup (n.2608-9_2608-7dup)
c.1843-9_1843-7dup (n.1843-9_1843-7dup)
c.2437-9_2437-7dup (n.2437-9_2437-7dup)
c.2455-9_2455-7dup (n.2455-9_2455-7dup)
c.886-9_886-7dup (n.886-9_886-7dup)
c.1297-9_1297-7dup (n.1297-9_1297-7dup)
c.2398-9_2398-7dup (n.2398-9_2398-7dup)
c.2485-9_2485-7dup (n.2485-9_2485-7dup)
c.2416-9_2416-7dup (n.2416-9_2416-7dup)
c.1948-9_1948-7dup (n.1948-9_1948-7dup)
 gnomAD v4
Xg.41524041_41524044delinsTAAGCA2425945466CASKc.2470-10_2470-7delinsCTTA (n.2470-10_2470-7delinsCTTA)
c.2467-10_2467-7delinsCTTA (n.2467-10_2467-7delinsCTTA)
c.2521-10_2521-7delinsCTTA (n.2521-10_2521-7delinsCTTA)
c.2419-10_2419-7delinsCTTA (n.2419-10_2419-7delinsCTTA)
c.2524-10_2524-7delinsCTTA (n.2524-10_2524-7delinsCTTA)
c.1141-10_1141-7delinsCTTA (n.1141-10_1141-7delinsCTTA)
c.2452-10_2452-7delinsCTTA (n.2452-10_2452-7delinsCTTA)
c.2383-10_2383-7delinsCTTA (n.2383-10_2383-7delinsCTTA)
n.1300-10_1300-7delinsCTTA
n.670_673delinsCTTA
c.293-10_293-7delinsCTTA
c.2503-10_2503-7delinsCTTA (n.2503-10_2503-7delinsCTTA)
c.2434-10_2434-7delinsCTTA (n.2434-10_2434-7delinsCTTA)
c.2506-10_2506-7delinsCTTA (n.2506-10_2506-7delinsCTTA)
n.2752-10_2752-7delinsCTTA
c.2608-10_2608-7delinsCTTA (n.2608-10_2608-7delinsCTTA)
c.1843-10_1843-7delinsCTTA (n.1843-10_1843-7delinsCTTA)
c.2437-10_2437-7delinsCTTA (n.2437-10_2437-7delinsCTTA)
c.2455-10_2455-7delinsCTTA (n.2455-10_2455-7delinsCTTA)
c.886-10_886-7delinsCTTA (n.886-10_886-7delinsCTTA)
c.1297-10_1297-7delinsCTTA (n.1297-10_1297-7delinsCTTA)
c.2398-10_2398-7delinsCTTA (n.2398-10_2398-7delinsCTTA)
c.2485-10_2485-7delinsCTTA (n.2485-10_2485-7delinsCTTA)
c.2416-10_2416-7delinsCTTA (n.2416-10_2416-7delinsCTTA)
c.1948-10_1948-7delinsCTTA (n.1948-10_1948-7delinsCTTA)
Xg.41524041_41524042insTACA2693493317CASKc.2470-8_2470-7insTA (n.2470-8_2470-7insTA)
c.2467-8_2467-7insTA (n.2467-8_2467-7insTA)
c.2521-8_2521-7insTA (n.2521-8_2521-7insTA)
c.2419-8_2419-7insTA (n.2419-8_2419-7insTA)
c.2524-8_2524-7insTA (n.2524-8_2524-7insTA)
c.1141-8_1141-7insTA (n.1141-8_1141-7insTA)
c.2452-8_2452-7insTA (n.2452-8_2452-7insTA)
c.2383-8_2383-7insTA (n.2383-8_2383-7insTA)
n.1300-8_1300-7insTA
n.672_673insTA
c.293-8_293-7insTA
c.2503-8_2503-7insTA (n.2503-8_2503-7insTA)
c.2434-8_2434-7insTA (n.2434-8_2434-7insTA)
c.2506-8_2506-7insTA (n.2506-8_2506-7insTA)
n.2752-8_2752-7insTA
c.2608-8_2608-7insTA (n.2608-8_2608-7insTA)
c.1843-8_1843-7insTA (n.1843-8_1843-7insTA)
c.2437-8_2437-7insTA (n.2437-8_2437-7insTA)
c.2455-8_2455-7insTA (n.2455-8_2455-7insTA)
c.886-8_886-7insTA (n.886-8_886-7insTA)
c.1297-8_1297-7insTA (n.1297-8_1297-7insTA)
c.2398-8_2398-7insTA (n.2398-8_2398-7insTA)
c.2485-8_2485-7insTA (n.2485-8_2485-7insTA)
c.2416-8_2416-7insTA (n.2416-8_2416-7insTA)
c.1948-8_1948-7insTA (n.1948-8_1948-7insTA)
 gnomAD v4
Xg.41524042A>CCA2693493314CASKc.2470-8T>G (n.2470-8T>G)
c.2467-8T>G (n.2467-8T>G)
c.2521-8T>G (n.2521-8T>G)
c.2419-8T>G (n.2419-8T>G)
c.2524-8T>G (n.2524-8T>G)
c.1141-8T>G (n.1141-8T>G)
c.2452-8T>G (n.2452-8T>G)
c.2383-8T>G (n.2383-8T>G)
n.1300-8T>G
n.672T>G
c.293-8T>G
c.2503-8T>G (n.2503-8T>G)
c.2434-8T>G (n.2434-8T>G)
c.2506-8T>G (n.2506-8T>G)
n.2752-8T>G
c.2608-8T>G (n.2608-8T>G)
c.1843-8T>G (n.1843-8T>G)
c.2437-8T>G (n.2437-8T>G)
c.2455-8T>G (n.2455-8T>G)
c.886-8T>G (n.886-8T>G)
c.1297-8T>G (n.1297-8T>G)
c.2398-8T>G (n.2398-8T>G)
c.2485-8T>G (n.2485-8T>G)
c.2416-8T>G (n.2416-8T>G)
c.1948-8T>G (n.1948-8T>G)
 gnomAD v4
Xg.41524042A>GCA2693493313CASKc.2470-8T>C (n.2470-8T>C)
c.2467-8T>C (n.2467-8T>C)
c.2521-8T>C (n.2521-8T>C)
c.2419-8T>C (n.2419-8T>C)
c.2524-8T>C (n.2524-8T>C)
c.1141-8T>C (n.1141-8T>C)
c.2452-8T>C (n.2452-8T>C)
c.2383-8T>C (n.2383-8T>C)
n.1300-8T>C
n.672T>C
c.293-8T>C
c.2503-8T>C (n.2503-8T>C)
c.2434-8T>C (n.2434-8T>C)
c.2506-8T>C (n.2506-8T>C)
n.2752-8T>C
c.2608-8T>C (n.2608-8T>C)
c.1843-8T>C (n.1843-8T>C)
c.2437-8T>C (n.2437-8T>C)
c.2455-8T>C (n.2455-8T>C)
c.886-8T>C (n.886-8T>C)
c.1297-8T>C (n.1297-8T>C)
c.2398-8T>C (n.2398-8T>C)
c.2485-8T>C (n.2485-8T>C)
c.2416-8T>C (n.2416-8T>C)
c.1948-8T>C (n.1948-8T>C)
 gnomAD v4
Xg.41524042A>TCA2693493312CASKc.2470-8T>A (n.2470-8T>A)
c.2467-8T>A (n.2467-8T>A)
c.2521-8T>A (n.2521-8T>A)
c.2419-8T>A (n.2419-8T>A)
c.2524-8T>A (n.2524-8T>A)
c.1141-8T>A (n.1141-8T>A)
c.2452-8T>A (n.2452-8T>A)
c.2383-8T>A (n.2383-8T>A)
n.1300-8T>A
n.672T>A
c.293-8T>A
c.2503-8T>A (n.2503-8T>A)
c.2434-8T>A (n.2434-8T>A)
c.2506-8T>A (n.2506-8T>A)
n.2752-8T>A
c.2608-8T>A (n.2608-8T>A)
c.1843-8T>A (n.1843-8T>A)
c.2437-8T>A (n.2437-8T>A)
c.2455-8T>A (n.2455-8T>A)
c.886-8T>A (n.886-8T>A)
c.1297-8T>A (n.1297-8T>A)
c.2398-8T>A (n.2398-8T>A)
c.2485-8T>A (n.2485-8T>A)
c.2416-8T>A (n.2416-8T>A)
c.1948-8T>A (n.1948-8T>A)
 gnomAD v4
Xg.41524043_41524044insAAACA10389991CASKc.2470-8_2470-7insTTT (n.2470-8_2470-7insTTT)
c.2467-8_2467-7insTTT (n.2467-8_2467-7insTTT)
c.2521-8_2521-7insTTT (n.2521-8_2521-7insTTT)
c.2419-8_2419-7insTTT (n.2419-8_2419-7insTTT)
c.2524-8_2524-7insTTT (n.2524-8_2524-7insTTT)
c.1141-8_1141-7insTTT (n.1141-8_1141-7insTTT)
c.2452-8_2452-7insTTT (n.2452-8_2452-7insTTT)
c.2383-8_2383-7insTTT (n.2383-8_2383-7insTTT)
n.1300-8_1300-7insTTT
n.672_673insTTT
c.293-8_293-7insTTT
c.2503-8_2503-7insTTT (n.2503-8_2503-7insTTT)
c.2434-8_2434-7insTTT (n.2434-8_2434-7insTTT)
c.2506-8_2506-7insTTT (n.2506-8_2506-7insTTT)
n.2752-8_2752-7insTTT
c.2608-8_2608-7insTTT (n.2608-8_2608-7insTTT)
c.1843-8_1843-7insTTT (n.1843-8_1843-7insTTT)
c.2437-8_2437-7insTTT (n.2437-8_2437-7insTTT)
c.2455-8_2455-7insTTT (n.2455-8_2455-7insTTT)
c.886-8_886-7insTTT (n.886-8_886-7insTTT)
c.1297-8_1297-7insTTT (n.1297-8_1297-7insTTT)
c.2398-8_2398-7insTTT (n.2398-8_2398-7insTTT)
c.2485-8_2485-7insTTT (n.2485-8_2485-7insTTT)
c.2416-8_2416-7insTTT (n.2416-8_2416-7insTTT)
c.1948-8_1948-7insTTT (n.1948-8_1948-7insTTT)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41524043_41524044insAAAACA2693493316CASKc.2470-8_2470-7insTTTT (n.2470-8_2470-7insTTTT)
c.2467-8_2467-7insTTTT (n.2467-8_2467-7insTTTT)
c.2521-8_2521-7insTTTT (n.2521-8_2521-7insTTTT)
c.2419-8_2419-7insTTTT (n.2419-8_2419-7insTTTT)
c.2524-8_2524-7insTTTT (n.2524-8_2524-7insTTTT)
c.1141-8_1141-7insTTTT (n.1141-8_1141-7insTTTT)
c.2452-8_2452-7insTTTT (n.2452-8_2452-7insTTTT)
c.2383-8_2383-7insTTTT (n.2383-8_2383-7insTTTT)
n.1300-8_1300-7insTTTT
n.672_673insTTTT
c.293-8_293-7insTTTT
c.2503-8_2503-7insTTTT (n.2503-8_2503-7insTTTT)
c.2434-8_2434-7insTTTT (n.2434-8_2434-7insTTTT)
c.2506-8_2506-7insTTTT (n.2506-8_2506-7insTTTT)
n.2752-8_2752-7insTTTT
c.2608-8_2608-7insTTTT (n.2608-8_2608-7insTTTT)
c.1843-8_1843-7insTTTT (n.1843-8_1843-7insTTTT)
c.2437-8_2437-7insTTTT (n.2437-8_2437-7insTTTT)
c.2455-8_2455-7insTTTT (n.2455-8_2455-7insTTTT)
c.886-8_886-7insTTTT (n.886-8_886-7insTTTT)
c.1297-8_1297-7insTTTT (n.1297-8_1297-7insTTTT)
c.2398-8_2398-7insTTTT (n.2398-8_2398-7insTTTT)
c.2485-8_2485-7insTTTT (n.2485-8_2485-7insTTTT)
c.2416-8_2416-7insTTTT (n.2416-8_2416-7insTTTT)
c.1948-8_1948-7insTTTT (n.1948-8_1948-7insTTTT)
 gnomAD v4
Xg.41524043_41524044insAAAATAAAAAACA913184130CASKc.2470-8_2470-7insTTTTATTTTTT (n.2470-8_2470-7insTTTTATTTTTT)
c.2467-8_2467-7insTTTTATTTTTT (n.2467-8_2467-7insTTTTATTTTTT)
c.2521-8_2521-7insTTTTATTTTTT (n.2521-8_2521-7insTTTTATTTTTT)
c.2419-8_2419-7insTTTTATTTTTT (n.2419-8_2419-7insTTTTATTTTTT)
c.2524-8_2524-7insTTTTATTTTTT (n.2524-8_2524-7insTTTTATTTTTT)
c.1141-8_1141-7insTTTTATTTTTT (n.1141-8_1141-7insTTTTATTTTTT)
c.2452-8_2452-7insTTTTATTTTTT (n.2452-8_2452-7insTTTTATTTTTT)
c.2383-8_2383-7insTTTTATTTTTT (n.2383-8_2383-7insTTTTATTTTTT)
n.1300-8_1300-7insTTTTATTTTTT
n.672_673insTTTTATTTTTT
c.293-8_293-7insTTTTATTTTTT
c.2503-8_2503-7insTTTTATTTTTT (n.2503-8_2503-7insTTTTATTTTTT)
c.2434-8_2434-7insTTTTATTTTTT (n.2434-8_2434-7insTTTTATTTTTT)
c.2506-8_2506-7insTTTTATTTTTT (n.2506-8_2506-7insTTTTATTTTTT)
n.2752-8_2752-7insTTTTATTTTTT
c.2608-8_2608-7insTTTTATTTTTT (n.2608-8_2608-7insTTTTATTTTTT)
c.1843-8_1843-7insTTTTATTTTTT (n.1843-8_1843-7insTTTTATTTTTT)
c.2437-8_2437-7insTTTTATTTTTT (n.2437-8_2437-7insTTTTATTTTTT)
c.2455-8_2455-7insTTTTATTTTTT (n.2455-8_2455-7insTTTTATTTTTT)
c.886-8_886-7insTTTTATTTTTT (n.886-8_886-7insTTTTATTTTTT)
c.1297-8_1297-7insTTTTATTTTTT (n.1297-8_1297-7insTTTTATTTTTT)
c.2398-8_2398-7insTTTTATTTTTT (n.2398-8_2398-7insTTTTATTTTTT)
c.2485-8_2485-7insTTTTATTTTTT (n.2485-8_2485-7insTTTTATTTTTT)
c.2416-8_2416-7insTTTTATTTTTT (n.2416-8_2416-7insTTTTATTTTTT)
c.1948-8_1948-7insTTTTATTTTTT (n.1948-8_1948-7insTTTTATTTTTT)
Xg.41524043dupCA10389989CASKc.2470-8dup (n.2470-8dup)
c.2467-8dup (n.2467-8dup)
c.2521-8dup (n.2521-8dup)
c.2419-8dup (n.2419-8dup)
c.2524-8dup (n.2524-8dup)
c.1141-8dup (n.1141-8dup)
c.2452-8dup (n.2452-8dup)
c.2383-8dup (n.2383-8dup)
n.1300-8dup
n.672dup
c.293-8dup
c.2503-8dup (n.2503-8dup)
c.2434-8dup (n.2434-8dup)
c.2506-8dup (n.2506-8dup)
n.2752-8dup
c.2608-8dup (n.2608-8dup)
c.1843-8dup (n.1843-8dup)
c.2437-8dup (n.2437-8dup)
c.2455-8dup (n.2455-8dup)
c.886-8dup (n.886-8dup)
c.1297-8dup (n.1297-8dup)
c.2398-8dup (n.2398-8dup)
c.2485-8dup (n.2485-8dup)
c.2416-8dup (n.2416-8dup)
c.1948-8dup (n.1948-8dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41524042_41524043dupCA10389990CASKc.2470-9_2470-8dup (n.2470-9_2470-8dup)
c.2467-9_2467-8dup (n.2467-9_2467-8dup)
c.2521-9_2521-8dup (n.2521-9_2521-8dup)
c.2419-9_2419-8dup (n.2419-9_2419-8dup)
c.2524-9_2524-8dup (n.2524-9_2524-8dup)
c.1141-9_1141-8dup (n.1141-9_1141-8dup)
c.2452-9_2452-8dup (n.2452-9_2452-8dup)
c.2383-9_2383-8dup (n.2383-9_2383-8dup)
n.1300-9_1300-8dup
n.671_672dup
c.293-9_293-8dup
c.2503-9_2503-8dup (n.2503-9_2503-8dup)
c.2434-9_2434-8dup (n.2434-9_2434-8dup)
c.2506-9_2506-8dup (n.2506-9_2506-8dup)
n.2752-9_2752-8dup
c.2608-9_2608-8dup (n.2608-9_2608-8dup)
c.1843-9_1843-8dup (n.1843-9_1843-8dup)
c.2437-9_2437-8dup (n.2437-9_2437-8dup)
c.2455-9_2455-8dup (n.2455-9_2455-8dup)
c.886-9_886-8dup (n.886-9_886-8dup)
c.1297-9_1297-8dup (n.1297-9_1297-8dup)
c.2398-9_2398-8dup (n.2398-9_2398-8dup)
c.2485-9_2485-8dup (n.2485-9_2485-8dup)
c.2416-9_2416-8dup (n.2416-9_2416-8dup)
c.1948-9_1948-8dup (n.1948-9_1948-8dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41524043delCA2693493315CASKc.2470-8del (n.2470-8del)
c.2467-8del (n.2467-8del)
c.2521-8del (n.2521-8del)
c.2419-8del (n.2419-8del)
c.2524-8del (n.2524-8del)
c.1141-8del (n.1141-8del)
c.2452-8del (n.2452-8del)
c.2383-8del (n.2383-8del)
n.1300-8del
n.672del
c.293-8del
c.2503-8del (n.2503-8del)
c.2434-8del (n.2434-8del)
c.2506-8del (n.2506-8del)
n.2752-8del
c.2608-8del (n.2608-8del)
c.1843-8del (n.1843-8del)
c.2437-8del (n.2437-8del)
c.2455-8del (n.2455-8del)
c.886-8del (n.886-8del)
c.1297-8del (n.1297-8del)
c.2398-8del (n.2398-8del)
c.2485-8del (n.2485-8del)
c.2416-8del (n.2416-8del)
c.1948-8del (n.1948-8del)
 gnomAD v4
Xg.41524044_41524046delCA915951006CASKc.2470-10_2470-8del (n.2470-10_2470-8del)
c.2467-10_2467-8del (n.2467-10_2467-8del)
c.2521-10_2521-8del (n.2521-10_2521-8del)
c.2419-10_2419-8del (n.2419-10_2419-8del)
c.2524-10_2524-8del (n.2524-10_2524-8del)
c.1141-10_1141-8del (n.1141-10_1141-8del)
c.2452-10_2452-8del (n.2452-10_2452-8del)
c.2383-10_2383-8del (n.2383-10_2383-8del)
n.1300-10_1300-8del
n.670_672del
c.293-10_293-8del
c.2503-10_2503-8del (n.2503-10_2503-8del)
c.2434-10_2434-8del (n.2434-10_2434-8del)
c.2506-10_2506-8del (n.2506-10_2506-8del)
n.2752-10_2752-8del
c.2608-10_2608-8del (n.2608-10_2608-8del)
c.1843-10_1843-8del (n.1843-10_1843-8del)
c.2437-10_2437-8del (n.2437-10_2437-8del)
c.2455-10_2455-8del (n.2455-10_2455-8del)
c.886-10_886-8del (n.886-10_886-8del)
c.1297-10_1297-8del (n.1297-10_1297-8del)
c.2398-10_2398-8del (n.2398-10_2398-8del)
c.2485-10_2485-8del (n.2485-10_2485-8del)
c.2416-10_2416-8del (n.2416-10_2416-8del)
c.1948-10_1948-8del (n.1948-10_1948-8del)
 ClinVar dbSNP

Number of alleles fetched