Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.41523916del | CA2579588808 | CASK | c.2553+35del (n.2553+35del) c.2550+35del (n.2550+35del) c.2604+35del (n.2604+35del) c.2502+35del (n.2502+35del) c.2607+35del (n.2607+35del) c.1224+35del (n.1224+35del) c.2535+35del (n.2535+35del) c.2466+35del (n.2466+35del) n.1383+35del n.763+35del c.376+35del c.2586+35del (n.2586+35del) c.2517+35del (n.2517+35del) c.2589+35del (n.2589+35del) n.2835+35del c.2691+35del (n.2691+35del) c.1926+35del (n.1926+35del) c.2520+35del (n.2520+35del) c.2538+35del (n.2538+35del) c.969+35del (n.969+35del) c.1380+35del (n.1380+35del) c.2481+35del (n.2481+35del) c.2568+35del (n.2568+35del) c.2499+35del (n.2499+35del) c.2031+35del (n.2031+35del) | |
X | g.41523917C>T | CA2579588809 | CASK | c.2553+34G>A (n.2553+34G>A) c.2550+34G>A (n.2550+34G>A) c.2604+34G>A (n.2604+34G>A) c.2502+34G>A (n.2502+34G>A) c.2607+34G>A (n.2607+34G>A) c.1224+34G>A (n.1224+34G>A) c.2535+34G>A (n.2535+34G>A) c.2466+34G>A (n.2466+34G>A) n.1383+34G>A n.763+34G>A c.376+34G>A c.2586+34G>A (n.2586+34G>A) c.2517+34G>A (n.2517+34G>A) c.2589+34G>A (n.2589+34G>A) n.2835+34G>A c.2691+34G>A (n.2691+34G>A) c.1926+34G>A (n.1926+34G>A) c.2520+34G>A (n.2520+34G>A) c.2538+34G>A (n.2538+34G>A) c.969+34G>A (n.969+34G>A) c.1380+34G>A (n.1380+34G>A) c.2481+34G>A (n.2481+34G>A) c.2568+34G>A (n.2568+34G>A) c.2499+34G>A (n.2499+34G>A) c.2031+34G>A (n.2031+34G>A) | gnomAD v4 |
X | g.41523919G>T | CA2693493289 | CASK | c.2553+32C>A (n.2553+32C>A) c.2550+32C>A (n.2550+32C>A) c.2604+32C>A (n.2604+32C>A) c.2502+32C>A (n.2502+32C>A) c.2607+32C>A (n.2607+32C>A) c.1224+32C>A (n.1224+32C>A) c.2535+32C>A (n.2535+32C>A) c.2466+32C>A (n.2466+32C>A) n.1383+32C>A n.763+32C>A c.376+32C>A c.2586+32C>A (n.2586+32C>A) c.2517+32C>A (n.2517+32C>A) c.2589+32C>A (n.2589+32C>A) n.2835+32C>A c.2691+32C>A (n.2691+32C>A) c.1926+32C>A (n.1926+32C>A) c.2520+32C>A (n.2520+32C>A) c.2538+32C>A (n.2538+32C>A) c.969+32C>A (n.969+32C>A) c.1380+32C>A (n.1380+32C>A) c.2481+32C>A (n.2481+32C>A) c.2568+32C>A (n.2568+32C>A) c.2499+32C>A (n.2499+32C>A) c.2031+32C>A (n.2031+32C>A) | gnomAD v4 |
X | g.41523920C= | CA2425945424 | CASK | c.2553+31G= (n.2553+31G=) c.2550+31G= (n.2550+31G=) c.2604+31G= (n.2604+31G=) c.2502+31G= (n.2502+31G=) c.2607+31G= (n.2607+31G=) c.1224+31G= (n.1224+31G=) c.2535+31G= (n.2535+31G=) c.2466+31G= (n.2466+31G=) n.1383+31G= n.763+31G= c.376+31G= c.2586+31G= (n.2586+31G=) c.2517+31G= (n.2517+31G=) c.2589+31G= (n.2589+31G=) n.2835+31G= c.2691+31G= (n.2691+31G=) c.1926+31G= (n.1926+31G=) c.2520+31G= (n.2520+31G=) c.2538+31G= (n.2538+31G=) c.969+31G= (n.969+31G=) c.1380+31G= (n.1380+31G=) c.2481+31G= (n.2481+31G=) c.2568+31G= (n.2568+31G=) c.2499+31G= (n.2499+31G=) c.2031+31G= (n.2031+31G=) | |
X | g.41523920C>G | CA2425945425 | CASK | c.2553+31G>C (n.2553+31G>C) c.2550+31G>C (n.2550+31G>C) c.2604+31G>C (n.2604+31G>C) c.2502+31G>C (n.2502+31G>C) c.2607+31G>C (n.2607+31G>C) c.1224+31G>C (n.1224+31G>C) c.2535+31G>C (n.2535+31G>C) c.2466+31G>C (n.2466+31G>C) n.1383+31G>C n.763+31G>C c.376+31G>C c.2586+31G>C (n.2586+31G>C) c.2517+31G>C (n.2517+31G>C) c.2589+31G>C (n.2589+31G>C) n.2835+31G>C c.2691+31G>C (n.2691+31G>C) c.1926+31G>C (n.1926+31G>C) c.2520+31G>C (n.2520+31G>C) c.2538+31G>C (n.2538+31G>C) c.969+31G>C (n.969+31G>C) c.1380+31G>C (n.1380+31G>C) c.2481+31G>C (n.2481+31G>C) c.2568+31G>C (n.2568+31G>C) c.2499+31G>C (n.2499+31G>C) c.2031+31G>C (n.2031+31G>C) | dbSNP |
X | g.41523921T>C | CA641573781 | CASK | c.2553+30A>G (n.2553+30A>G) c.2550+30A>G (n.2550+30A>G) c.2604+30A>G (n.2604+30A>G) c.2502+30A>G (n.2502+30A>G) c.2607+30A>G (n.2607+30A>G) c.1224+30A>G (n.1224+30A>G) c.2535+30A>G (n.2535+30A>G) c.2466+30A>G (n.2466+30A>G) n.1383+30A>G n.763+30A>G c.376+30A>G c.2586+30A>G (n.2586+30A>G) c.2517+30A>G (n.2517+30A>G) c.2589+30A>G (n.2589+30A>G) n.2835+30A>G c.2691+30A>G (n.2691+30A>G) c.1926+30A>G (n.1926+30A>G) c.2520+30A>G (n.2520+30A>G) c.2538+30A>G (n.2538+30A>G) c.969+30A>G (n.969+30A>G) c.1380+30A>G (n.1380+30A>G) c.2481+30A>G (n.2481+30A>G) c.2568+30A>G (n.2568+30A>G) c.2499+30A>G (n.2499+30A>G) c.2031+30A>G (n.2031+30A>G) | dbSNP gnomAD v2 gnomAD v4 |
X | g.41523921T= | CA2425945426 | CASK | c.2553+30A= (n.2553+30A=) c.2550+30A= (n.2550+30A=) c.2604+30A= (n.2604+30A=) c.2502+30A= (n.2502+30A=) c.2607+30A= (n.2607+30A=) c.1224+30A= (n.1224+30A=) c.2535+30A= (n.2535+30A=) c.2466+30A= (n.2466+30A=) n.1383+30A= n.763+30A= c.376+30A= c.2586+30A= (n.2586+30A=) c.2517+30A= (n.2517+30A=) c.2589+30A= (n.2589+30A=) n.2835+30A= c.2691+30A= (n.2691+30A=) c.1926+30A= (n.1926+30A=) c.2520+30A= (n.2520+30A=) c.2538+30A= (n.2538+30A=) c.969+30A= (n.969+30A=) c.1380+30A= (n.1380+30A=) c.2481+30A= (n.2481+30A=) c.2568+30A= (n.2568+30A=) c.2499+30A= (n.2499+30A=) c.2031+30A= (n.2031+30A=) | |
X | g.41523923A>G | CA2693493290 | CASK | c.2553+28T>C (n.2553+28T>C) c.2550+28T>C (n.2550+28T>C) c.2604+28T>C (n.2604+28T>C) c.2502+28T>C (n.2502+28T>C) c.2607+28T>C (n.2607+28T>C) c.1224+28T>C (n.1224+28T>C) c.2535+28T>C (n.2535+28T>C) c.2466+28T>C (n.2466+28T>C) n.1383+28T>C n.763+28T>C c.376+28T>C c.2586+28T>C (n.2586+28T>C) c.2517+28T>C (n.2517+28T>C) c.2589+28T>C (n.2589+28T>C) n.2835+28T>C c.2691+28T>C (n.2691+28T>C) c.1926+28T>C (n.1926+28T>C) c.2520+28T>C (n.2520+28T>C) c.2538+28T>C (n.2538+28T>C) c.969+28T>C (n.969+28T>C) c.1380+28T>C (n.1380+28T>C) c.2481+28T>C (n.2481+28T>C) c.2568+28T>C (n.2568+28T>C) c.2499+28T>C (n.2499+28T>C) c.2031+28T>C (n.2031+28T>C) | gnomAD v4 |
X | g.41523924T>C | CA2693493291 | CASK | c.2553+27A>G (n.2553+27A>G) c.2550+27A>G (n.2550+27A>G) c.2604+27A>G (n.2604+27A>G) c.2502+27A>G (n.2502+27A>G) c.2607+27A>G (n.2607+27A>G) c.1224+27A>G (n.1224+27A>G) c.2535+27A>G (n.2535+27A>G) c.2466+27A>G (n.2466+27A>G) n.1383+27A>G n.763+27A>G c.376+27A>G c.2586+27A>G (n.2586+27A>G) c.2517+27A>G (n.2517+27A>G) c.2589+27A>G (n.2589+27A>G) n.2835+27A>G c.2691+27A>G (n.2691+27A>G) c.1926+27A>G (n.1926+27A>G) c.2520+27A>G (n.2520+27A>G) c.2538+27A>G (n.2538+27A>G) c.969+27A>G (n.969+27A>G) c.1380+27A>G (n.1380+27A>G) c.2481+27A>G (n.2481+27A>G) c.2568+27A>G (n.2568+27A>G) c.2499+27A>G (n.2499+27A>G) c.2031+27A>G (n.2031+27A>G) | gnomAD v4 |
X | g.41523925T>C | CA641573782 | CASK | c.2553+26A>G (n.2553+26A>G) c.2550+26A>G (n.2550+26A>G) c.2604+26A>G (n.2604+26A>G) c.2502+26A>G (n.2502+26A>G) c.2607+26A>G (n.2607+26A>G) c.1224+26A>G (n.1224+26A>G) c.2535+26A>G (n.2535+26A>G) c.2466+26A>G (n.2466+26A>G) n.1383+26A>G n.763+26A>G c.376+26A>G c.2586+26A>G (n.2586+26A>G) c.2517+26A>G (n.2517+26A>G) c.2589+26A>G (n.2589+26A>G) n.2835+26A>G c.2691+26A>G (n.2691+26A>G) c.1926+26A>G (n.1926+26A>G) c.2520+26A>G (n.2520+26A>G) c.2538+26A>G (n.2538+26A>G) c.969+26A>G (n.969+26A>G) c.1380+26A>G (n.1380+26A>G) c.2481+26A>G (n.2481+26A>G) c.2568+26A>G (n.2568+26A>G) c.2499+26A>G (n.2499+26A>G) c.2031+26A>G (n.2031+26A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.41523925T= | CA2425945427 | CASK | c.2553+26A= (n.2553+26A=) c.2550+26A= (n.2550+26A=) c.2604+26A= (n.2604+26A=) c.2502+26A= (n.2502+26A=) c.2607+26A= (n.2607+26A=) c.1224+26A= (n.1224+26A=) c.2535+26A= (n.2535+26A=) c.2466+26A= (n.2466+26A=) n.1383+26A= n.763+26A= c.376+26A= c.2586+26A= (n.2586+26A=) c.2517+26A= (n.2517+26A=) c.2589+26A= (n.2589+26A=) n.2835+26A= c.2691+26A= (n.2691+26A=) c.1926+26A= (n.1926+26A=) c.2520+26A= (n.2520+26A=) c.2538+26A= (n.2538+26A=) c.969+26A= (n.969+26A=) c.1380+26A= (n.1380+26A=) c.2481+26A= (n.2481+26A=) c.2568+26A= (n.2568+26A=) c.2499+26A= (n.2499+26A=) c.2031+26A= (n.2031+26A=) | |
X | g.41523926T>C | CA516098936 | CASK | c.2553+25A>G (n.2553+25A>G) c.2550+25A>G (n.2550+25A>G) c.2604+25A>G (n.2604+25A>G) c.2502+25A>G (n.2502+25A>G) c.2607+25A>G (n.2607+25A>G) c.1224+25A>G (n.1224+25A>G) c.2535+25A>G (n.2535+25A>G) c.2466+25A>G (n.2466+25A>G) n.1383+25A>G n.763+25A>G c.376+25A>G c.2586+25A>G (n.2586+25A>G) c.2517+25A>G (n.2517+25A>G) c.2589+25A>G (n.2589+25A>G) n.2835+25A>G c.2691+25A>G (n.2691+25A>G) c.1926+25A>G (n.1926+25A>G) c.2520+25A>G (n.2520+25A>G) c.2538+25A>G (n.2538+25A>G) c.969+25A>G (n.969+25A>G) c.1380+25A>G (n.1380+25A>G) c.2481+25A>G (n.2481+25A>G) c.2568+25A>G (n.2568+25A>G) c.2499+25A>G (n.2499+25A>G) c.2031+25A>G (n.2031+25A>G) | |
X | g.41523927G>T | CA2693493292 | CASK | c.2553+24C>A (n.2553+24C>A) c.2550+24C>A (n.2550+24C>A) c.2604+24C>A (n.2604+24C>A) c.2502+24C>A (n.2502+24C>A) c.2607+24C>A (n.2607+24C>A) c.1224+24C>A (n.1224+24C>A) c.2535+24C>A (n.2535+24C>A) c.2466+24C>A (n.2466+24C>A) n.1383+24C>A n.763+24C>A c.376+24C>A c.2586+24C>A (n.2586+24C>A) c.2517+24C>A (n.2517+24C>A) c.2589+24C>A (n.2589+24C>A) n.2835+24C>A c.2691+24C>A (n.2691+24C>A) c.1926+24C>A (n.1926+24C>A) c.2520+24C>A (n.2520+24C>A) c.2538+24C>A (n.2538+24C>A) c.969+24C>A (n.969+24C>A) c.1380+24C>A (n.1380+24C>A) c.2481+24C>A (n.2481+24C>A) c.2568+24C>A (n.2568+24C>A) c.2499+24C>A (n.2499+24C>A) c.2031+24C>A (n.2031+24C>A) | gnomAD v4 |
X | g.41523930dup | CA2579588811 | CASK | c.2553+24dup (n.2553+24dup) c.2550+24dup (n.2550+24dup) c.2604+24dup (n.2604+24dup) c.2502+24dup (n.2502+24dup) c.2607+24dup (n.2607+24dup) c.1224+24dup (n.1224+24dup) c.2535+24dup (n.2535+24dup) c.2466+24dup (n.2466+24dup) n.1383+24dup n.763+24dup c.376+24dup c.2586+24dup (n.2586+24dup) c.2517+24dup (n.2517+24dup) c.2589+24dup (n.2589+24dup) n.2835+24dup c.2691+24dup (n.2691+24dup) c.1926+24dup (n.1926+24dup) c.2520+24dup (n.2520+24dup) c.2538+24dup (n.2538+24dup) c.969+24dup (n.969+24dup) c.1380+24dup (n.1380+24dup) c.2481+24dup (n.2481+24dup) c.2568+24dup (n.2568+24dup) c.2499+24dup (n.2499+24dup) c.2031+24dup (n.2031+24dup) | dbSNP |
X | g.41523930del | CA2579588810 | CASK | c.2553+24del (n.2553+24del) c.2550+24del (n.2550+24del) c.2604+24del (n.2604+24del) c.2502+24del (n.2502+24del) c.2607+24del (n.2607+24del) c.1224+24del (n.1224+24del) c.2535+24del (n.2535+24del) c.2466+24del (n.2466+24del) n.1383+24del n.763+24del c.376+24del c.2586+24del (n.2586+24del) c.2517+24del (n.2517+24del) c.2589+24del (n.2589+24del) n.2835+24del c.2691+24del (n.2691+24del) c.1926+24del (n.1926+24del) c.2520+24del (n.2520+24del) c.2538+24del (n.2538+24del) c.969+24del (n.969+24del) c.1380+24del (n.1380+24del) c.2481+24del (n.2481+24del) c.2568+24del (n.2568+24del) c.2499+24del (n.2499+24del) c.2031+24del (n.2031+24del) | gnomAD v4 |
X | g.41523928G>A | CA2693493293 | CASK | c.2553+23C>T (n.2553+23C>T) c.2550+23C>T (n.2550+23C>T) c.2604+23C>T (n.2604+23C>T) c.2502+23C>T (n.2502+23C>T) c.2607+23C>T (n.2607+23C>T) c.1224+23C>T (n.1224+23C>T) c.2535+23C>T (n.2535+23C>T) c.2466+23C>T (n.2466+23C>T) n.1383+23C>T n.763+23C>T c.376+23C>T c.2586+23C>T (n.2586+23C>T) c.2517+23C>T (n.2517+23C>T) c.2589+23C>T (n.2589+23C>T) n.2835+23C>T c.2691+23C>T (n.2691+23C>T) c.1926+23C>T (n.1926+23C>T) c.2520+23C>T (n.2520+23C>T) c.2538+23C>T (n.2538+23C>T) c.969+23C>T (n.969+23C>T) c.1380+23C>T (n.1380+23C>T) c.2481+23C>T (n.2481+23C>T) c.2568+23C>T (n.2568+23C>T) c.2499+23C>T (n.2499+23C>T) c.2031+23C>T (n.2031+23C>T) | gnomAD v4 |
X | g.41523928G>T | CA2579588812 | CASK | c.2553+23C>A (n.2553+23C>A) c.2550+23C>A (n.2550+23C>A) c.2604+23C>A (n.2604+23C>A) c.2502+23C>A (n.2502+23C>A) c.2607+23C>A (n.2607+23C>A) c.1224+23C>A (n.1224+23C>A) c.2535+23C>A (n.2535+23C>A) c.2466+23C>A (n.2466+23C>A) n.1383+23C>A n.763+23C>A c.376+23C>A c.2586+23C>A (n.2586+23C>A) c.2517+23C>A (n.2517+23C>A) c.2589+23C>A (n.2589+23C>A) n.2835+23C>A c.2691+23C>A (n.2691+23C>A) c.1926+23C>A (n.1926+23C>A) c.2520+23C>A (n.2520+23C>A) c.2538+23C>A (n.2538+23C>A) c.969+23C>A (n.969+23C>A) c.1380+23C>A (n.1380+23C>A) c.2481+23C>A (n.2481+23C>A) c.2568+23C>A (n.2568+23C>A) c.2499+23C>A (n.2499+23C>A) c.2031+23C>A (n.2031+23C>A) | gnomAD v4 |
X | g.41523929G>T | CA2693493294 | CASK | c.2553+22C>A (n.2553+22C>A) c.2550+22C>A (n.2550+22C>A) c.2604+22C>A (n.2604+22C>A) c.2502+22C>A (n.2502+22C>A) c.2607+22C>A (n.2607+22C>A) c.1224+22C>A (n.1224+22C>A) c.2535+22C>A (n.2535+22C>A) c.2466+22C>A (n.2466+22C>A) n.1383+22C>A n.763+22C>A c.376+22C>A c.2586+22C>A (n.2586+22C>A) c.2517+22C>A (n.2517+22C>A) c.2589+22C>A (n.2589+22C>A) n.2835+22C>A c.2691+22C>A (n.2691+22C>A) c.1926+22C>A (n.1926+22C>A) c.2520+22C>A (n.2520+22C>A) c.2538+22C>A (n.2538+22C>A) c.969+22C>A (n.969+22C>A) c.1380+22C>A (n.1380+22C>A) c.2481+22C>A (n.2481+22C>A) c.2568+22C>A (n.2568+22C>A) c.2499+22C>A (n.2499+22C>A) c.2031+22C>A (n.2031+22C>A) | gnomAD v4 |
X | g.41523930G>A | CA2693493295 | CASK | c.2553+21C>T (n.2553+21C>T) c.2550+21C>T (n.2550+21C>T) c.2604+21C>T (n.2604+21C>T) c.2502+21C>T (n.2502+21C>T) c.2607+21C>T (n.2607+21C>T) c.1224+21C>T (n.1224+21C>T) c.2535+21C>T (n.2535+21C>T) c.2466+21C>T (n.2466+21C>T) n.1383+21C>T n.763+21C>T c.376+21C>T c.2586+21C>T (n.2586+21C>T) c.2517+21C>T (n.2517+21C>T) c.2589+21C>T (n.2589+21C>T) n.2835+21C>T c.2691+21C>T (n.2691+21C>T) c.1926+21C>T (n.1926+21C>T) c.2520+21C>T (n.2520+21C>T) c.2538+21C>T (n.2538+21C>T) c.969+21C>T (n.969+21C>T) c.1380+21C>T (n.1380+21C>T) c.2481+21C>T (n.2481+21C>T) c.2568+21C>T (n.2568+21C>T) c.2499+21C>T (n.2499+21C>T) c.2031+21C>T (n.2031+21C>T) | gnomAD v4 |
X | g.41523930G= | CA2425945428 | CASK | c.2553+21C= (n.2553+21C=) c.2550+21C= (n.2550+21C=) c.2604+21C= (n.2604+21C=) c.2502+21C= (n.2502+21C=) c.2607+21C= (n.2607+21C=) c.1224+21C= (n.1224+21C=) c.2535+21C= (n.2535+21C=) c.2466+21C= (n.2466+21C=) n.1383+21C= n.763+21C= c.376+21C= c.2586+21C= (n.2586+21C=) c.2517+21C= (n.2517+21C=) c.2589+21C= (n.2589+21C=) n.2835+21C= c.2691+21C= (n.2691+21C=) c.1926+21C= (n.1926+21C=) c.2520+21C= (n.2520+21C=) c.2538+21C= (n.2538+21C=) c.969+21C= (n.969+21C=) c.1380+21C= (n.1380+21C=) c.2481+21C= (n.2481+21C=) c.2568+21C= (n.2568+21C=) c.2499+21C= (n.2499+21C=) c.2031+21C= (n.2031+21C=) | |
X | g.41523930G>T | CA329227629 | CASK | c.2553+21C>A (n.2553+21C>A) c.2550+21C>A (n.2550+21C>A) c.2604+21C>A (n.2604+21C>A) c.2502+21C>A (n.2502+21C>A) c.2607+21C>A (n.2607+21C>A) c.1224+21C>A (n.1224+21C>A) c.2535+21C>A (n.2535+21C>A) c.2466+21C>A (n.2466+21C>A) n.1383+21C>A n.763+21C>A c.376+21C>A c.2586+21C>A (n.2586+21C>A) c.2517+21C>A (n.2517+21C>A) c.2589+21C>A (n.2589+21C>A) n.2835+21C>A c.2691+21C>A (n.2691+21C>A) c.1926+21C>A (n.1926+21C>A) c.2520+21C>A (n.2520+21C>A) c.2538+21C>A (n.2538+21C>A) c.969+21C>A (n.969+21C>A) c.1380+21C>A (n.1380+21C>A) c.2481+21C>A (n.2481+21C>A) c.2568+21C>A (n.2568+21C>A) c.2499+21C>A (n.2499+21C>A) c.2031+21C>A (n.2031+21C>A) | dbSNP gnomAD v4 |
X | g.41523931A= | CA2425945429 | CASK | c.2553+20T= (n.2553+20T=) c.2550+20T= (n.2550+20T=) c.2604+20T= (n.2604+20T=) c.2502+20T= (n.2502+20T=) c.2607+20T= (n.2607+20T=) c.1224+20T= (n.1224+20T=) c.2535+20T= (n.2535+20T=) c.2466+20T= (n.2466+20T=) n.1383+20T= n.763+20T= c.376+20T= c.2586+20T= (n.2586+20T=) c.2517+20T= (n.2517+20T=) c.2589+20T= (n.2589+20T=) n.2835+20T= c.2691+20T= (n.2691+20T=) c.1926+20T= (n.1926+20T=) c.2520+20T= (n.2520+20T=) c.2538+20T= (n.2538+20T=) c.969+20T= (n.969+20T=) c.1380+20T= (n.1380+20T=) c.2481+20T= (n.2481+20T=) c.2568+20T= (n.2568+20T=) c.2499+20T= (n.2499+20T=) c.2031+20T= (n.2031+20T=) | |
X | g.41523931A>G | CA875413460 | CASK | c.2553+20T>C (n.2553+20T>C) c.2550+20T>C (n.2550+20T>C) c.2604+20T>C (n.2604+20T>C) c.2502+20T>C (n.2502+20T>C) c.2607+20T>C (n.2607+20T>C) c.1224+20T>C (n.1224+20T>C) c.2535+20T>C (n.2535+20T>C) c.2466+20T>C (n.2466+20T>C) n.1383+20T>C n.763+20T>C c.376+20T>C c.2586+20T>C (n.2586+20T>C) c.2517+20T>C (n.2517+20T>C) c.2589+20T>C (n.2589+20T>C) n.2835+20T>C c.2691+20T>C (n.2691+20T>C) c.1926+20T>C (n.1926+20T>C) c.2520+20T>C (n.2520+20T>C) c.2538+20T>C (n.2538+20T>C) c.969+20T>C (n.969+20T>C) c.1380+20T>C (n.1380+20T>C) c.2481+20T>C (n.2481+20T>C) c.2568+20T>C (n.2568+20T>C) c.2499+20T>C (n.2499+20T>C) c.2031+20T>C (n.2031+20T>C) | ClinVar dbSNP gnomAD v4 |
X | g.41523935dup | CA2693493296 | CASK | c.2553+20dup (n.2553+20dup) c.2550+20dup (n.2550+20dup) c.2604+20dup (n.2604+20dup) c.2502+20dup (n.2502+20dup) c.2607+20dup (n.2607+20dup) c.1224+20dup (n.1224+20dup) c.2535+20dup (n.2535+20dup) c.2466+20dup (n.2466+20dup) n.1383+20dup n.763+20dup c.376+20dup c.2586+20dup (n.2586+20dup) c.2517+20dup (n.2517+20dup) c.2589+20dup (n.2589+20dup) n.2835+20dup c.2691+20dup (n.2691+20dup) c.1926+20dup (n.1926+20dup) c.2520+20dup (n.2520+20dup) c.2538+20dup (n.2538+20dup) c.969+20dup (n.969+20dup) c.1380+20dup (n.1380+20dup) c.2481+20dup (n.2481+20dup) c.2568+20dup (n.2568+20dup) c.2499+20dup (n.2499+20dup) c.2031+20dup (n.2031+20dup) | gnomAD v4 |
X | g.41523935del | CA2579588813 | CASK | c.2553+20del (n.2553+20del) c.2550+20del (n.2550+20del) c.2604+20del (n.2604+20del) c.2502+20del (n.2502+20del) c.2607+20del (n.2607+20del) c.1224+20del (n.1224+20del) c.2535+20del (n.2535+20del) c.2466+20del (n.2466+20del) n.1383+20del n.763+20del c.376+20del c.2586+20del (n.2586+20del) c.2517+20del (n.2517+20del) c.2589+20del (n.2589+20del) n.2835+20del c.2691+20del (n.2691+20del) c.1926+20del (n.1926+20del) c.2520+20del (n.2520+20del) c.2538+20del (n.2538+20del) c.969+20del (n.969+20del) c.1380+20del (n.1380+20del) c.2481+20del (n.2481+20del) c.2568+20del (n.2568+20del) c.2499+20del (n.2499+20del) c.2031+20del (n.2031+20del) | gnomAD v4 |
X | g.41523932A>G | CA2693493297 | CASK | c.2553+19T>C (n.2553+19T>C) c.2550+19T>C (n.2550+19T>C) c.2604+19T>C (n.2604+19T>C) c.2502+19T>C (n.2502+19T>C) c.2607+19T>C (n.2607+19T>C) c.1224+19T>C (n.1224+19T>C) c.2535+19T>C (n.2535+19T>C) c.2466+19T>C (n.2466+19T>C) n.1383+19T>C n.763+19T>C c.376+19T>C c.2586+19T>C (n.2586+19T>C) c.2517+19T>C (n.2517+19T>C) c.2589+19T>C (n.2589+19T>C) n.2835+19T>C c.2691+19T>C (n.2691+19T>C) c.1926+19T>C (n.1926+19T>C) c.2520+19T>C (n.2520+19T>C) c.2538+19T>C (n.2538+19T>C) c.969+19T>C (n.969+19T>C) c.1380+19T>C (n.1380+19T>C) c.2481+19T>C (n.2481+19T>C) c.2568+19T>C (n.2568+19T>C) c.2499+19T>C (n.2499+19T>C) c.2031+19T>C (n.2031+19T>C) | gnomAD v4 |
X | g.41523933A>T | CA2579588814 | CASK | c.2553+18T>A (n.2553+18T>A) c.2550+18T>A (n.2550+18T>A) c.2604+18T>A (n.2604+18T>A) c.2502+18T>A (n.2502+18T>A) c.2607+18T>A (n.2607+18T>A) c.1224+18T>A (n.1224+18T>A) c.2535+18T>A (n.2535+18T>A) c.2466+18T>A (n.2466+18T>A) n.1383+18T>A n.763+18T>A c.376+18T>A c.2586+18T>A (n.2586+18T>A) c.2517+18T>A (n.2517+18T>A) c.2589+18T>A (n.2589+18T>A) n.2835+18T>A c.2691+18T>A (n.2691+18T>A) c.1926+18T>A (n.1926+18T>A) c.2520+18T>A (n.2520+18T>A) c.2538+18T>A (n.2538+18T>A) c.969+18T>A (n.969+18T>A) c.1380+18T>A (n.1380+18T>A) c.2481+18T>A (n.2481+18T>A) c.2568+18T>A (n.2568+18T>A) c.2499+18T>A (n.2499+18T>A) c.2031+18T>A (n.2031+18T>A) | |
X | g.41523934A= | CA2425945430 | CASK | c.2553+17T= (n.2553+17T=) c.2550+17T= (n.2550+17T=) c.2604+17T= (n.2604+17T=) c.2502+17T= (n.2502+17T=) c.2607+17T= (n.2607+17T=) c.1224+17T= (n.1224+17T=) c.2535+17T= (n.2535+17T=) c.2466+17T= (n.2466+17T=) n.1383+17T= n.763+17T= c.376+17T= c.2586+17T= (n.2586+17T=) c.2517+17T= (n.2517+17T=) c.2589+17T= (n.2589+17T=) n.2835+17T= c.2691+17T= (n.2691+17T=) c.1926+17T= (n.1926+17T=) c.2520+17T= (n.2520+17T=) c.2538+17T= (n.2538+17T=) c.969+17T= (n.969+17T=) c.1380+17T= (n.1380+17T=) c.2481+17T= (n.2481+17T=) c.2568+17T= (n.2568+17T=) c.2499+17T= (n.2499+17T=) c.2031+17T= (n.2031+17T=) | |
X | g.41523934A>C | CA875413463 | CASK | c.2553+17T>G (n.2553+17T>G) c.2550+17T>G (n.2550+17T>G) c.2604+17T>G (n.2604+17T>G) c.2502+17T>G (n.2502+17T>G) c.2607+17T>G (n.2607+17T>G) c.1224+17T>G (n.1224+17T>G) c.2535+17T>G (n.2535+17T>G) c.2466+17T>G (n.2466+17T>G) n.1383+17T>G n.763+17T>G c.376+17T>G c.2586+17T>G (n.2586+17T>G) c.2517+17T>G (n.2517+17T>G) c.2589+17T>G (n.2589+17T>G) n.2835+17T>G c.2691+17T>G (n.2691+17T>G) c.1926+17T>G (n.1926+17T>G) c.2520+17T>G (n.2520+17T>G) c.2538+17T>G (n.2538+17T>G) c.969+17T>G (n.969+17T>G) c.1380+17T>G (n.1380+17T>G) c.2481+17T>G (n.2481+17T>G) c.2568+17T>G (n.2568+17T>G) c.2499+17T>G (n.2499+17T>G) c.2031+17T>G (n.2031+17T>G) | dbSNP gnomAD v3 gnomAD v4 |
X | g.41523935A= | CA2425945431 | CASK | c.2553+16T= (n.2553+16T=) c.2550+16T= (n.2550+16T=) c.2604+16T= (n.2604+16T=) c.2502+16T= (n.2502+16T=) c.2607+16T= (n.2607+16T=) c.1224+16T= (n.1224+16T=) c.2535+16T= (n.2535+16T=) c.2466+16T= (n.2466+16T=) n.1383+16T= n.763+16T= c.376+16T= c.2586+16T= (n.2586+16T=) c.2517+16T= (n.2517+16T=) c.2589+16T= (n.2589+16T=) n.2835+16T= c.2691+16T= (n.2691+16T=) c.1926+16T= (n.1926+16T=) c.2520+16T= (n.2520+16T=) c.2538+16T= (n.2538+16T=) c.969+16T= (n.969+16T=) c.1380+16T= (n.1380+16T=) c.2481+16T= (n.2481+16T=) c.2568+16T= (n.2568+16T=) c.2499+16T= (n.2499+16T=) c.2031+16T= (n.2031+16T=) | |
X | g.41523935A>G | CA329227630 | CASK | c.2553+16T>C (n.2553+16T>C) c.2550+16T>C (n.2550+16T>C) c.2604+16T>C (n.2604+16T>C) c.2502+16T>C (n.2502+16T>C) c.2607+16T>C (n.2607+16T>C) c.1224+16T>C (n.1224+16T>C) c.2535+16T>C (n.2535+16T>C) c.2466+16T>C (n.2466+16T>C) n.1383+16T>C n.763+16T>C c.376+16T>C c.2586+16T>C (n.2586+16T>C) c.2517+16T>C (n.2517+16T>C) c.2589+16T>C (n.2589+16T>C) n.2835+16T>C c.2691+16T>C (n.2691+16T>C) c.1926+16T>C (n.1926+16T>C) c.2520+16T>C (n.2520+16T>C) c.2538+16T>C (n.2538+16T>C) c.969+16T>C (n.969+16T>C) c.1380+16T>C (n.1380+16T>C) c.2481+16T>C (n.2481+16T>C) c.2568+16T>C (n.2568+16T>C) c.2499+16T>C (n.2499+16T>C) c.2031+16T>C (n.2031+16T>C) | dbSNP |
X | g.41523936C>A | CA641573783 | CASK | c.2553+15G>T (n.2553+15G>T) c.2550+15G>T (n.2550+15G>T) c.2604+15G>T (n.2604+15G>T) c.2502+15G>T (n.2502+15G>T) c.2607+15G>T (n.2607+15G>T) c.1224+15G>T (n.1224+15G>T) c.2535+15G>T (n.2535+15G>T) c.2466+15G>T (n.2466+15G>T) n.1383+15G>T n.763+15G>T c.376+15G>T c.2586+15G>T (n.2586+15G>T) c.2517+15G>T (n.2517+15G>T) c.2589+15G>T (n.2589+15G>T) n.2835+15G>T c.2691+15G>T (n.2691+15G>T) c.1926+15G>T (n.1926+15G>T) c.2520+15G>T (n.2520+15G>T) c.2538+15G>T (n.2538+15G>T) c.969+15G>T (n.969+15G>T) c.1380+15G>T (n.1380+15G>T) c.2481+15G>T (n.2481+15G>T) c.2568+15G>T (n.2568+15G>T) c.2499+15G>T (n.2499+15G>T) c.2031+15G>T (n.2031+15G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.41523936C= | CA2425945432 | CASK | c.2553+15G= (n.2553+15G=) c.2550+15G= (n.2550+15G=) c.2604+15G= (n.2604+15G=) c.2502+15G= (n.2502+15G=) c.2607+15G= (n.2607+15G=) c.1224+15G= (n.1224+15G=) c.2535+15G= (n.2535+15G=) c.2466+15G= (n.2466+15G=) n.1383+15G= n.763+15G= c.376+15G= c.2586+15G= (n.2586+15G=) c.2517+15G= (n.2517+15G=) c.2589+15G= (n.2589+15G=) n.2835+15G= c.2691+15G= (n.2691+15G=) c.1926+15G= (n.1926+15G=) c.2520+15G= (n.2520+15G=) c.2538+15G= (n.2538+15G=) c.969+15G= (n.969+15G=) c.1380+15G= (n.1380+15G=) c.2481+15G= (n.2481+15G=) c.2568+15G= (n.2568+15G=) c.2499+15G= (n.2499+15G=) c.2031+15G= (n.2031+15G=) | |
X | g.41523936C>T | CA2693493298 | CASK | c.2553+15G>A (n.2553+15G>A) c.2550+15G>A (n.2550+15G>A) c.2604+15G>A (n.2604+15G>A) c.2502+15G>A (n.2502+15G>A) c.2607+15G>A (n.2607+15G>A) c.1224+15G>A (n.1224+15G>A) c.2535+15G>A (n.2535+15G>A) c.2466+15G>A (n.2466+15G>A) n.1383+15G>A n.763+15G>A c.376+15G>A c.2586+15G>A (n.2586+15G>A) c.2517+15G>A (n.2517+15G>A) c.2589+15G>A (n.2589+15G>A) n.2835+15G>A c.2691+15G>A (n.2691+15G>A) c.1926+15G>A (n.1926+15G>A) c.2520+15G>A (n.2520+15G>A) c.2538+15G>A (n.2538+15G>A) c.969+15G>A (n.969+15G>A) c.1380+15G>A (n.1380+15G>A) c.2481+15G>A (n.2481+15G>A) c.2568+15G>A (n.2568+15G>A) c.2499+15G>A (n.2499+15G>A) c.2031+15G>A (n.2031+15G>A) | gnomAD v4 |
X | g.41523937A= | CA2425945433 | CASK | c.2553+14T= (n.2553+14T=) c.2550+14T= (n.2550+14T=) c.2604+14T= (n.2604+14T=) c.2502+14T= (n.2502+14T=) c.2607+14T= (n.2607+14T=) c.1224+14T= (n.1224+14T=) c.2535+14T= (n.2535+14T=) c.2466+14T= (n.2466+14T=) n.1383+14T= n.763+14T= c.376+14T= c.2586+14T= (n.2586+14T=) c.2517+14T= (n.2517+14T=) c.2589+14T= (n.2589+14T=) n.2835+14T= c.2691+14T= (n.2691+14T=) c.1926+14T= (n.1926+14T=) c.2520+14T= (n.2520+14T=) c.2538+14T= (n.2538+14T=) c.969+14T= (n.969+14T=) c.1380+14T= (n.1380+14T=) c.2481+14T= (n.2481+14T=) c.2568+14T= (n.2568+14T=) c.2499+14T= (n.2499+14T=) c.2031+14T= (n.2031+14T=) | |
X | g.41523937A>G | CA641573784 | CASK | c.2553+14T>C (n.2553+14T>C) c.2550+14T>C (n.2550+14T>C) c.2604+14T>C (n.2604+14T>C) c.2502+14T>C (n.2502+14T>C) c.2607+14T>C (n.2607+14T>C) c.1224+14T>C (n.1224+14T>C) c.2535+14T>C (n.2535+14T>C) c.2466+14T>C (n.2466+14T>C) n.1383+14T>C n.763+14T>C c.376+14T>C c.2586+14T>C (n.2586+14T>C) c.2517+14T>C (n.2517+14T>C) c.2589+14T>C (n.2589+14T>C) n.2835+14T>C c.2691+14T>C (n.2691+14T>C) c.1926+14T>C (n.1926+14T>C) c.2520+14T>C (n.2520+14T>C) c.2538+14T>C (n.2538+14T>C) c.969+14T>C (n.969+14T>C) c.1380+14T>C (n.1380+14T>C) c.2481+14T>C (n.2481+14T>C) c.2568+14T>C (n.2568+14T>C) c.2499+14T>C (n.2499+14T>C) c.2031+14T>C (n.2031+14T>C) | dbSNP gnomAD v2 gnomAD v4 |
X | g.41523938G>T | CA2693493299 | CASK | c.2553+13C>A (n.2553+13C>A) c.2550+13C>A (n.2550+13C>A) c.2604+13C>A (n.2604+13C>A) c.2502+13C>A (n.2502+13C>A) c.2607+13C>A (n.2607+13C>A) c.1224+13C>A (n.1224+13C>A) c.2535+13C>A (n.2535+13C>A) c.2466+13C>A (n.2466+13C>A) n.1383+13C>A n.763+13C>A c.376+13C>A c.2586+13C>A (n.2586+13C>A) c.2517+13C>A (n.2517+13C>A) c.2589+13C>A (n.2589+13C>A) n.2835+13C>A c.2691+13C>A (n.2691+13C>A) c.1926+13C>A (n.1926+13C>A) c.2520+13C>A (n.2520+13C>A) c.2538+13C>A (n.2538+13C>A) c.969+13C>A (n.969+13C>A) c.1380+13C>A (n.1380+13C>A) c.2481+13C>A (n.2481+13C>A) c.2568+13C>A (n.2568+13C>A) c.2499+13C>A (n.2499+13C>A) c.2031+13C>A (n.2031+13C>A) | gnomAD v4 |
X | g.41523942G>A | CA641573785 | CASK | c.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 |
X | g.41523942G= | CA2425945434 | CASK | c.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=) | |
X | g.41523942G>T | CA2693493300 | CASK | c.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 |
X | g.41523944T>C | CA2693493301 | CASK | c.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 |
X | g.41523944T>G | CA915951005 | CASK | c.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 |
X | g.41523944T= | CA2425945435 | CASK | c.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=) | |
X | g.41523946C= | CA2425945436 | CASK | c.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=) | |
X | g.41523946C>G | CA2820588814 | CASK | c.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) | |
X | g.41523946C>T | CA1139667441 | CASK | c.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 |
X | g.41523948T>C | CA2573158858 | CASK | c.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 |
X | g.41523949A>C | CA412989046 | CASK | c.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) | |
X | g.41523949A>G | CA412989047 | CASK | c.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 |
X | g.41523949A>T | CA412989048 | CASK | c.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 |
X | g.41523950C>A | CA412989049 | CASK | c.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 |
X | g.41523950C= | CA2425945437 | CASK | c.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=) | |
X | g.41523950C>G | CA412989050 | CASK | c.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) | |
X | g.41523950C>T | CA412989051 | CASK | c.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 |
X | g.41523951C>A | CA412989052 | CASK | c.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) | |
X | g.41523951C>G | CA412989053 | CASK | c.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) | |
X | g.41523951C>T | CA516098937 | CASK | c.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=) | |
X | g.41523952T>A | CA412989056 | CASK | c.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 |
X | g.41523952T>C | CA412989054 | CASK | c.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) | |
X | g.41523952T>G | CA412989055 | CASK | c.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) | |
X | g.41523953C>A | CA412989057 | CASK | c.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) | |
X | g.41523953C>G | CA412989058 | CASK | c.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 |
X | g.41523953C>T | CA412989059 | CASK | c.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 |
X | g.41523954A>C | CA412989060 | CASK | c.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) | |
X | g.41523954A>G | CA516098938 | CASK | c.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=) | |
X | g.41523954A>T | CA412989061 | CASK | c.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) | |
X | g.41523955T>A | CA412989062 | CASK | c.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) | |
X | g.41523955T>C | CA412989063 | CASK | c.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 |
X | g.41523955T>G | CA412989064 | CASK | c.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) | |
X | g.41523956T>A | CA412989065 | CASK | c.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) | |
X | g.41523956T>C | CA412989066 | CASK | c.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) | |
X | g.41523956T>G | CA412989067 | CASK | c.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) | |
X | g.41523957T>A | CA412989069 | CASK | c.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) | |
X | g.41523957T>C | CA516098939 | CASK | c.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 |
X | g.41523957T>G | CA412989068 | CASK | c.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) | |
X | g.41523958A>C | CA412989070 | CASK | c.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) | |
X | g.41523958A>G | CA412989071 | CASK | c.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) | |
X | g.41523958A>T | CA412989072 | CASK | c.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) | |
X | g.41523959A>C | CA412989073 | CASK | c.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) | |
X | g.41523959A>G | CA516098940 | CASK | c.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=) | |
X | g.41523959A>T | CA412989074 | CASK | c.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) | |
X | g.41523960A>C | CA516098941 | CASK | c.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=) | |
X | g.41523960A>G | CA516098942 | CASK | c.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=) | |
X | g.41523960A>T | CA516098943 | CASK | c.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=) | |
X | g.41523961C>A | CA412989077 | CASK | c.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) | |
X | g.41523961C= | CA2425945438 | CASK | c.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=) | |
X | g.41523961C>G | CA412989076 | CASK | c.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) | |
X | g.41523961C>T | CA412989075 | CASK | c.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 |
X | g.41523962C>A | CA412989078 | CASK | c.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 |
X | g.41523962C>G | CA412989079 | CASK | c.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 |
X | g.41523962C>T | CA412989080 | CASK | c.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) | |
X | g.41523963T>A | CA516098945 | CASK | c.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=) | |
X | g.41523963T>C | CA516098946 | CASK | c.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 |
X | g.41523963T>G | CA516098947 | CASK | c.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=) | |
X | g.41523963T= | CA2425945439 | CASK | c.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=) | |
X | g.41523964G>A | CA412989081 | CASK | c.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) | |
X | g.41523964G>C | CA412989082 | CASK | c.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) | |
X | g.41523964G>T | CA412989083 | CASK | c.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) | |
X | g.41523965del | CA2579588815 | CASK | c.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) | |
X | g.41523965G>A | CA412989084 | CASK | c.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 |
X | g.41523965G>C | CA412989086 | CASK | c.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) | |
X | g.41523965G= | CA2425945440 | CASK | c.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=) | |
X | g.41523965G>T | CA412989085 | CASK | c.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 |
X | g.41523966A= | CA2425945441 | CASK | c.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=) | |
X | g.41523966A>C | CA10389982 | CASK | c.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 |
X | g.41523966A>G | CA516098951 | CASK | c.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=) | |
X | g.41523966A>T | CA10389981 | CASK | c.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 |
X | g.41523967_41523969dup | CA920407106 | CASK | c.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 |
X | g.41523967G>A | CA329227631 | CASK | c.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 |
X | g.41523967G>C | CA412989087 | CASK | c.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) | |
X | g.41523967G= | CA2425945442 | CASK | c.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=) | |
X | g.41523967G>T | CA412989088 | CASK | c.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 |
X | g.41523968T>A | CA412989089 | CASK | c.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) | |
X | g.41523968T>C | CA412989090 | CASK | c.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 |
X | g.41523968T>G | CA412989091 | CASK | c.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) | |
X | g.41523969A>C | CA412989092 | CASK | c.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) | |
X | g.41523969A>G | CA516098954 | CASK | c.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 |
X | g.41523969A>T | CA516098953 | CASK | c.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=) | |
X | g.41523970del | CA2579588816 | CASK | c.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) | |
X | g.41523970A>C | CA412989093 | CASK | c.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) | |
X | g.41523970A>G | CA412989094 | CASK | c.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) | |
X | g.41523970A>T | CA412989095 | CASK | c.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) | |
X | g.41523971T>A | CA412989097 | CASK | c.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) | |
X | g.41523971T>C | CA412989098 | CASK | c.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) | |
X | g.41523971T>G | CA412989096 | CASK | c.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) | |
X | g.41523972A>C | CA516098957 | CASK | c.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=) | |
X | g.41523972A>G | CA516098959 | CASK | c.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=) | |
X | g.41523972A>T | CA516098958 | CASK | c.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 |
X | g.41523973G>A | CA412989100 | CASK | c.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) | |
X | g.41523973G>C | CA412989099 | CASK | c.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) | |
X | g.41523973G>T | CA412989101 | CASK | c.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) | |
X | g.41523974T>A | CA412989102 | CASK | c.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) | |
X | g.41523974T>C | CA412989103 | CASK | c.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 |
X | g.41523974T>G | CA412989104 | CASK | c.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) | |
X | g.41523975T>A | CA516098961 | CASK | c.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=) | |
X | g.41523975T>C | CA516098962 | CASK | c.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=) | |
X | g.41523975T>G | CA516098963 | CASK | c.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=) | |
X | g.41523976G>A | CA412989105 | CASK | c.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 |
X | g.41523976G>C | CA412989106 | CASK | c.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) | |
X | g.41523976G>T | CA412989107 | CASK | c.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 |
X | g.41523977G>A | CA412989110 | CASK | c.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) | |
X | g.41523977G>C | CA412989109 | CASK | c.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) | |
X | g.41523977G>T | CA412989108 | CASK | c.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 |
X | g.41523978T>A | CA516098964 | CASK | c.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=) | |
X | g.41523978T>C | CA516098965 | CASK | c.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=) | |
X | g.41523978T>G | CA516098966 | CASK | c.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=) | |
X | g.41523979G>A | CA412989111 | CASK | c.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 |
X | g.41523979G>C | CA412989112 | CASK | c.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) | |
X | g.41523979G= | CA2425945443 | CASK | c.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=) | |
X | g.41523979G>T | CA412989114 | CASK | c.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 |
X | g.41523980C>A | CA412989116 | CASK | c.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) | |
X | g.41523980C>G | CA412989117 | CASK | c.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) | |
X | g.41523980C>T | CA412989119 | CASK | c.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 |
X | g.41523981A>C | CA516098967 | CASK | c.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=) | |
X | g.41523981A>G | CA516098968 | CASK | c.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=) | |
X | g.41523981A>T | CA516098970 | CASK | c.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=) | |
X | g.41523982G>A | CA412989120 | CASK | c.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 |
X | g.41523982G>C | CA412989123 | CASK | c.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) | |
X | g.41523982G>T | CA412989122 | CASK | c.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 |
X | g.41523983C>A | CA412989125 | CASK | c.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) | |
X | g.41523983C= | CA2425945444 | CASK | c.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=) | |
X | g.41523983C>G | CA412989127 | CASK | c.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) | |
X | g.41523983C>T | CA329227632 | CASK | c.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 |
X | g.41523984A>C | CA412989129 | CASK | c.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) | |
X | g.41523984A>G | CA516098971 | CASK | c.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=) | |
X | g.41523984A>T | CA516098972 | CASK | c.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=) | |
X | g.41523985A>C | CA412989131 | CASK | c.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) | |
X | g.41523985A>G | CA412989132 | CASK | c.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) | |
X | g.41523985A>T | CA412989134 | CASK | c.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) | |
X | g.41523986T>A | CA412989135 | CASK | c.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) | |
X | g.41523986T>C | CA412989137 | CASK | c.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 |
X | g.41523986T>G | CA412989139 | CASK | c.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) | |
X | g.41523987G>A | CA516098974 | CASK | c.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=) | |
X | g.41523987G>C | CA412989141 | CASK | c.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) | |
X | g.41523987G>T | CA412989142 | CASK | c.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) | |
X | g.41523988A= | CA2425945445 | CASK | c.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=) | |
X | g.41523988A>C | CA412989144 | CASK | c.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) | |
X | g.41523988A>G | CA412989147 | CASK | c.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 |
X | g.41523988A>T | CA412989146 | CASK | c.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) | |
X | g.41523989A>C | CA412989149 | CASK | c.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) | |
X | g.41523989A>G | CA412989150 | CASK | c.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) | |
X | g.41523989A>T | CA412989152 | CASK | c.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) | |
X | g.41523990A>C | CA516098977 | CASK | c.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=) | |
X | g.41523990A>G | CA516098976 | CASK | c.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=) | |
X | g.41523990A>T | CA516098975 | CASK | c.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=) | |
X | g.41523991A>C | CA412989154 | CASK | c.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) | |
X | g.41523991A>G | CA412989155 | CASK | c.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) | |
X | g.41523991A>T | CA412989157 | CASK | c.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) | |
X | g.41523992C>A | CA412989158 | CASK | c.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 |
X | g.41523992C= | CA2425945446 | CASK | c.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=) | |
X | g.41523992C>G | CA412989160 | CASK | c.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) | |
X | g.41523992C>T | CA412989162 | CASK | c.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 |
X | g.41523993A>C | CA516098978 | CASK | c.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=) | |
X | g.41523993A>G | CA516098980 | CASK | c.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=) | |
X | g.41523993A>T | CA516098979 | CASK | c.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=) | |
X | g.41523994A= | CA2425945447 | CASK | c.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=) | |
X | g.41523994A>C | CA412989163 | CASK | c.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) | |
X | g.41523994A>G | CA412989165 | CASK | c.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 |
X | g.41523994A>T | CA412989166 | CASK | c.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) | |
X | g.41523995C>A | CA412989171 | CASK | c.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 |
X | g.41523995C>G | CA412989168 | CASK | c.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) | |
X | g.41523995C>T | CA412989170 | CASK | c.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 |
X | g.41523996A>C | CA412989173 | CASK | c.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) | |
X | g.41523996A>G | CA516098981 | CASK | c.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=) | |
X | g.41523996A>T | CA412989174 | CASK | c.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) | |
X | g.41523997A>C | CA412989176 | CASK | c.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) | |
X | g.41523997A>G | CA412989178 | CASK | c.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) | |
X | g.41523997A>T | CA412989180 | CASK | c.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) | |
X | g.41523998A>C | CA412989181 | CASK | c.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) | |
X | g.41523998A>G | CA412989182 | CASK | c.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) | |
X | g.41523998A>T | CA412989183 | CASK | c.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) | |
X | g.41523999A>C | CA516098985 | CASK | c.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=) | |
X | g.41523999A>G | CA516098986 | CASK | c.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=) | |
X | g.41523999A>T | CA516098987 | CASK | c.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 |
X | g.41524000G>A | CA412989185 | CASK | c.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) | |
X | g.41524000G>C | CA412989187 | CASK | c.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) | |
X | g.41524000G>T | CA412989188 | CASK | c.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) | |
X | g.41524001G>A | CA412989193 | CASK | c.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) | |
X | g.41524001G>C | CA412989192 | CASK | c.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) | |
X | g.41524001G>T | CA412989190 | CASK | c.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) | |
X | g.41524002A>C | CA516098988 | CASK | c.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=) | |
X | g.41524002A>G | CA516098989 | CASK | c.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 |
X | g.41524002A>T | CA516098990 | CASK | c.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=) | |
X | g.41524003G>A | CA412989195 | CASK | c.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 |
X | g.41524003G>C | CA412989196 | CASK | c.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) | |
X | g.41524003G= | CA2425945448 | CASK | c.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=) | |
X | g.41524003G>T | CA412989198 | CASK | c.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 |
X | g.41524004C>A | CA412989200 | CASK | c.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) | |
X | g.41524004C>G | CA412989201 | CASK | c.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) | |
X | g.41524004C>T | CA412989203 | CASK | c.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 |
X | g.41524004_41524006delinsCAA | CA2425945449 | CASK | c.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=) | |
X | g.41524005A>C | CA412989206 | CASK | c.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) | |
X | g.41524005A>G | CA516098991 | CASK | c.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 |
X | g.41524005A>T | CA412989204 | CASK | c.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) | |
X | g.41524006_41524007del | CA645372682 | CASK | c.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 |
X | g.41524006A>C | CA412989208 | CASK | c.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) | |
X | g.41524006A>G | CA412989209 | CASK | c.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) | |
X | g.41524006A>T | CA412989211 | CASK | c.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) | |
X | g.41524007A>C | CA412989213 | CASK | c.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) | |
X | g.41524007A>G | CA412989214 | CASK | c.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) | |
X | g.41524007A>T | CA412989216 | CASK | c.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) | |
X | g.41524007_41524009delinsACT | CA2425945450 | CASK | c.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=) | |
X | g.41524008C>A | CA412989220 | CASK | c.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 |
X | g.41524008C= | CA2425945451 | CASK | c.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=) | |
X | g.41524008C>G | CA412989218 | CASK | c.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) | |
X | g.41524008C>T | CA516098992 | CASK | c.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 |
X | g.41524010_41524011del | CA251314 | CASK | c.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 |
X | g.41524009T>A | CA412989222 | CASK | c.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 |
X | g.41524009T>C | CA412989223 | CASK | c.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) | |
X | g.41524009T>G | CA412989225 | CASK | c.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) | |
X | g.41524010C>A | CA412989227 | CASK | c.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 |
X | g.41524010C>G | CA412989229 | CASK | c.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) | |
X | g.41524010C>T | CA412989230 | CASK | c.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) | |
X | g.41524011T>A | CA516098995 | CASK | c.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=) | |
X | g.41524011T>C | CA516098993 | CASK | c.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=) | |
X | g.41524011T>G | CA516098994 | CASK | c.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=) | |
X | g.41524012G>A | CA412989232 | CASK | c.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 |
X | g.41524012G>C | CA412989233 | CASK | c.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) | |
X | g.41524012G>T | CA412989235 | CASK | c.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) | |
X | g.41524013del | CA2693493302 | CASK | c.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 |
X | g.41524013C>A | CA412989237 | CASK | c.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 |
X | g.41524013C>G | CA412989238 | CASK | c.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) | |
X | g.41524013C>T | CA412989239 | CASK | c.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 |
X | g.41524014A= | CA2425945452 | CASK | c.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=) | |
X | g.41524014A>C | CA516098997 | CASK | c.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=) | |
X | g.41524014A>G | CA10389983 | CASK | c.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 |
X | g.41524014A>T | CA516098998 | CASK | c.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=) | |
X | g.41524015G>A | CA412989242 | CASK | c.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 |
X | g.41524015G>C | CA412989245 | CASK | c.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) | |
X | g.41524015G= | CA2425945453 | CASK | c.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=) | |
X | g.41524015G>T | CA412989243 | CASK | c.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 |
X | g.41524016T>A | CA412989247 | CASK | c.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) | |
X | g.41524016T>C | CA412989249 | CASK | c.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 |
X | g.41524016T>G | CA412989250 | CASK | c.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) | |
X | g.41524016T= | CA2425945454 | CASK | c.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=) |