Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.41230516_41230530delCA658794182USP9Xc.7462_7476del (p.Asp2488_Glu2492del)
c.7510_7524del (p.Asp2504_Glu2508del)
c.3685-1871_3685-1857del (n.3685-1871_3685-1857del)
c.7447_7461del (p.Asp2483_Glu2487del)
c.7294_7308del (p.Asp2432_Glu2436del)
c.6546_6560del
c.4326_4340del
c.3590_3604del (n.3590_3604del)
c.2898_2912del (n.2898_2912del)
c.7495_7509del (p.Asp2499_Glu2503del)
Xg.41230529A>CCA412754484USP9Xc.7475A>C (p.Glu2492Ala)
c.7523A>C (p.Glu2508Ala)
c.3685-1858A>C (n.3685-1858A>C)
c.7460A>C (p.Glu2487Ala)
c.7307A>C (p.Glu2436Ala)
c.6559A>C
c.4339A>C
c.3603A>C (n.3603A>C)
c.2911A>C (n.2911A>C)
c.7508A>C (p.Glu2503Ala)
Xg.41230529A>GCA412754485USP9Xc.7475A>G (p.Glu2492Gly)
c.7523A>G (p.Glu2508Gly)
c.3685-1858A>G (n.3685-1858A>G)
c.7460A>G (p.Glu2487Gly)
c.7307A>G (p.Glu2436Gly)
c.6559A>G
c.4339A>G
c.3603A>G (n.3603A>G)
c.2911A>G (n.2911A>G)
c.7508A>G (p.Glu2503Gly)
Xg.41230529A>TCA412754487USP9Xc.7475A>T (p.Glu2492Val)
c.7523A>T (p.Glu2508Val)
c.3685-1858A>T (n.3685-1858A>T)
c.7460A>T (p.Glu2487Val)
c.7307A>T (p.Glu2436Val)
c.6559A>T
c.4339A>T
c.3603A>T (n.3603A>T)
c.2911A>T (n.2911A>T)
c.7508A>T (p.Glu2503Val)
Xg.41230530A=CA2425838774USP9Xc.7476A= (p.Glu2492=)
c.7524A= (p.Glu2508=)
c.3685-1857A= (n.3685-1857A=)
c.7461A= (p.Glu2487=)
c.7308A= (p.Glu2436=)
c.6560A=
c.4340A=
c.3604A= (n.3604A=)
c.2912A= (n.2912A=)
c.7509A= (p.Glu2503=)
Xg.41230530A>CCA10389230USP9Xc.7476A>C (p.Glu2492Asp)
c.7524A>C (p.Glu2508Asp)
c.3685-1857A>C (n.3685-1857A>C)
c.7461A>C (p.Glu2487Asp)
c.7308A>C (p.Glu2436Asp)
c.6560A>C
c.4340A>C
c.3604A>C (n.3604A>C)
c.2912A>C (n.2912A>C)
c.7509A>C (p.Glu2503Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41230530A>GCA515960734USP9Xc.7476A>G (p.Glu2492=)
c.7524A>G (p.Glu2508=)
c.3685-1857A>G (n.3685-1857A>G)
c.7461A>G (p.Glu2487=)
c.7308A>G (p.Glu2436=)
c.6560A>G
c.4340A>G
c.3604A>G (n.3604A>G)
c.2912A>G (n.2912A>G)
c.7509A>G (p.Glu2503=)
Xg.41230530A>TCA412754491USP9Xc.7476A>T (p.Glu2492Asp)
c.7524A>T (p.Glu2508Asp)
c.3685-1857A>T (n.3685-1857A>T)
c.7461A>T (p.Glu2487Asp)
c.7308A>T (p.Glu2436Asp)
c.6560A>T
c.4340A>T
c.3604A>T (n.3604A>T)
c.2912A>T (n.2912A>T)
c.7509A>T (p.Glu2503Asp)
Xg.41230531C>ACA412754494USP9Xc.7477C>A (p.His2493Asn)
c.7525C>A (p.His2509Asn)
c.3685-1856C>A (n.3685-1856C>A)
c.7462C>A (p.His2488Asn)
c.7309C>A (p.His2437Asn)
c.6561C>A
c.4341C>A
c.3605C>A (n.3605C>A)
c.2913C>A (n.2913C>A)
c.7510C>A (p.His2504Asn)
Xg.41230531C>GCA412754496USP9Xc.7477C>G (p.His2493Asp)
c.7525C>G (p.His2509Asp)
c.3685-1856C>G (n.3685-1856C>G)
c.7462C>G (p.His2488Asp)
c.7309C>G (p.His2437Asp)
c.6561C>G
c.4341C>G
c.3605C>G (n.3605C>G)
c.2913C>G (n.2913C>G)
c.7510C>G (p.His2504Asp)
Xg.41230531C>TCA412754498USP9Xc.7477C>T (p.His2493Tyr)
c.7525C>T (p.His2509Tyr)
c.3685-1856C>T (n.3685-1856C>T)
c.7462C>T (p.His2488Tyr)
c.7309C>T (p.His2437Tyr)
c.6561C>T
c.4341C>T
c.3605C>T (n.3605C>T)
c.2913C>T (n.2913C>T)
c.7510C>T (p.His2504Tyr)
Xg.41230532A>CCA412754501USP9Xc.7478A>C (p.His2493Pro)
c.7526A>C (p.His2509Pro)
c.3685-1855A>C (n.3685-1855A>C)
c.7463A>C (p.His2488Pro)
c.7310A>C (p.His2437Pro)
c.6562A>C
c.4342A>C
c.3606A>C (n.3606A>C)
c.2914A>C (n.2914A>C)
c.7511A>C (p.His2504Pro)
Xg.41230532A>GCA412754504USP9Xc.7478A>G (p.His2493Arg)
c.7526A>G (p.His2509Arg)
c.3685-1855A>G (n.3685-1855A>G)
c.7463A>G (p.His2488Arg)
c.7310A>G (p.His2437Arg)
c.6562A>G
c.4342A>G
c.3606A>G (n.3606A>G)
c.2914A>G (n.2914A>G)
c.7511A>G (p.His2504Arg)
 gnomAD v4
Xg.41230532A>TCA412754506USP9Xc.7478A>T (p.His2493Leu)
c.7526A>T (p.His2509Leu)
c.3685-1855A>T (n.3685-1855A>T)
c.7463A>T (p.His2488Leu)
c.7310A>T (p.His2437Leu)
c.6562A>T
c.4342A>T
c.3606A>T (n.3606A>T)
c.2914A>T (n.2914A>T)
c.7511A>T (p.His2504Leu)
Xg.41230533T>ACA412754510USP9Xc.7479T>A (p.His2493Gln)
c.7527T>A (p.His2509Gln)
c.3685-1854T>A (n.3685-1854T>A)
c.7464T>A (p.His2488Gln)
c.7311T>A (p.His2437Gln)
c.6563T>A
c.4343T>A
c.3607T>A (n.3607T>A)
c.2915T>A (n.2915T>A)
c.7512T>A (p.His2504Gln)
Xg.41230533T>CCA515960742USP9Xc.7479T>C (p.His2493=)
c.7527T>C (p.His2509=)
c.3685-1854T>C (n.3685-1854T>C)
c.7464T>C (p.His2488=)
c.7311T>C (p.His2437=)
c.6563T>C
c.4343T>C
c.3607T>C (n.3607T>C)
c.2915T>C (n.2915T>C)
c.7512T>C (p.His2504=)
Xg.41230533T>GCA412754511USP9Xc.7479T>G (p.His2493Gln)
c.7527T>G (p.His2509Gln)
c.3685-1854T>G (n.3685-1854T>G)
c.7464T>G (p.His2488Gln)
c.7311T>G (p.His2437Gln)
c.6563T>G
c.4343T>G
c.3607T>G (n.3607T>G)
c.2915T>G (n.2915T>G)
c.7512T>G (p.His2504Gln)
Xg.41230534G>ACA412754513USP9Xc.7480G>A (p.Glu2494Lys)
c.7528G>A (p.Glu2510Lys)
c.3685-1853G>A (n.3685-1853G>A)
c.7465G>A (p.Glu2489Lys)
c.7312G>A (p.Glu2438Lys)
c.6564G>A
c.4344G>A
c.3608G>A (n.3608G>A)
c.2916G>A (n.2916G>A)
c.7513G>A (p.Glu2505Lys)
Xg.41230534G>CCA412754515USP9Xc.7480G>C (p.Glu2494Gln)
c.7528G>C (p.Glu2510Gln)
c.3685-1853G>C (n.3685-1853G>C)
c.7465G>C (p.Glu2489Gln)
c.7312G>C (p.Glu2438Gln)
c.6564G>C
c.4344G>C
c.3608G>C (n.3608G>C)
c.2916G>C (n.2916G>C)
c.7513G>C (p.Glu2505Gln)
Xg.41230534G>TCA412754517USP9Xc.7480G>T (p.Glu2494Ter)
c.7528G>T (p.Glu2510Ter)
c.3685-1853G>T (n.3685-1853G>T)
c.7465G>T (p.Glu2489Ter)
c.7312G>T (p.Glu2438Ter)
c.6564G>T
c.4344G>T
c.3608G>T (n.3608G>T)
c.2916G>T (n.2916G>T)
c.7513G>T (p.Glu2505Ter)
 COSMIC
Xg.41230535A>CCA412754524USP9Xc.7481A>C (p.Glu2494Ala)
c.7529A>C (p.Glu2510Ala)
c.3685-1852A>C (n.3685-1852A>C)
c.7466A>C (p.Glu2489Ala)
c.7313A>C (p.Glu2438Ala)
c.6565A>C
c.4345A>C
c.3609A>C (n.3609A>C)
c.2917A>C (n.2917A>C)
c.7514A>C (p.Glu2505Ala)
Xg.41230535A>GCA412754522USP9Xc.7481A>G (p.Glu2494Gly)
c.7529A>G (p.Glu2510Gly)
c.3685-1852A>G (n.3685-1852A>G)
c.7466A>G (p.Glu2489Gly)
c.7313A>G (p.Glu2438Gly)
c.6565A>G
c.4345A>G
c.3609A>G (n.3609A>G)
c.2917A>G (n.2917A>G)
c.7514A>G (p.Glu2505Gly)
Xg.41230535A>TCA412754519USP9Xc.7481A>T (p.Glu2494Val)
c.7529A>T (p.Glu2510Val)
c.3685-1852A>T (n.3685-1852A>T)
c.7466A>T (p.Glu2489Val)
c.7313A>T (p.Glu2438Val)
c.6565A>T
c.4345A>T
c.3609A>T (n.3609A>T)
c.2917A>T (n.2917A>T)
c.7514A>T (p.Glu2505Val)
Xg.41230536G>ACA515960747USP9Xc.7482G>A (p.Glu2494=)
c.7530G>A (p.Glu2510=)
c.3685-1851G>A (n.3685-1851G>A)
c.7467G>A (p.Glu2489=)
c.7314G>A (p.Glu2438=)
c.6566G>A
c.4346G>A
c.3610G>A (n.3610G>A)
c.2918G>A (n.2918G>A)
c.7515G>A (p.Glu2505=)
Xg.41230536G>CCA412754527USP9Xc.7482G>C (p.Glu2494Asp)
c.7530G>C (p.Glu2510Asp)
c.3685-1851G>C (n.3685-1851G>C)
c.7467G>C (p.Glu2489Asp)
c.7314G>C (p.Glu2438Asp)
c.6566G>C
c.4346G>C
c.3610G>C (n.3610G>C)
c.2918G>C (n.2918G>C)
c.7515G>C (p.Glu2505Asp)
Xg.41230536G>TCA412754530USP9Xc.7482G>T (p.Glu2494Asp)
c.7530G>T (p.Glu2510Asp)
c.3685-1851G>T (n.3685-1851G>T)
c.7467G>T (p.Glu2489Asp)
c.7314G>T (p.Glu2438Asp)
c.6566G>T
c.4346G>T
c.3610G>T (n.3610G>T)
c.2918G>T (n.2918G>T)
c.7515G>T (p.Glu2505Asp)
Xg.41230537T>ACA412754532USP9Xc.7483T>A (p.Ser2495Thr)
c.7531T>A (p.Ser2511Thr)
c.3685-1850T>A (n.3685-1850T>A)
c.7468T>A (p.Ser2490Thr)
c.7315T>A (p.Ser2439Thr)
c.6567T>A
c.4347T>A
c.3611T>A (n.3611T>A)
c.2919T>A (n.2919T>A)
c.7516T>A (p.Ser2506Thr)
Xg.41230537T>CCA412754533USP9Xc.7483T>C (p.Ser2495Pro)
c.7531T>C (p.Ser2511Pro)
c.3685-1850T>C (n.3685-1850T>C)
c.7468T>C (p.Ser2490Pro)
c.7315T>C (p.Ser2439Pro)
c.6567T>C
c.4347T>C
c.3611T>C (n.3611T>C)
c.2919T>C (n.2919T>C)
c.7516T>C (p.Ser2506Pro)
Xg.41230537T>GCA412754537USP9Xc.7483T>G (p.Ser2495Ala)
c.7531T>G (p.Ser2511Ala)
c.3685-1850T>G (n.3685-1850T>G)
c.7468T>G (p.Ser2490Ala)
c.7315T>G (p.Ser2439Ala)
c.6567T>G
c.4347T>G
c.3611T>G (n.3611T>G)
c.2919T>G (n.2919T>G)
c.7516T>G (p.Ser2506Ala)
Xg.41230538C>ACA412754540USP9Xc.7484C>A (p.Ser2495Ter)
c.7532C>A (p.Ser2511Ter)
c.3685-1849C>A (n.3685-1849C>A)
c.7469C>A (p.Ser2490Ter)
c.7316C>A (p.Ser2439Ter)
c.6568C>A
c.4348C>A
c.3612C>A (n.3612C>A)
c.2920C>A (n.2920C>A)
c.7517C>A (p.Ser2506Ter)
 gnomAD v4
Xg.41230538C>GCA412754542USP9Xc.7484C>G (p.Ser2495Trp)
c.7532C>G (p.Ser2511Trp)
c.3685-1849C>G (n.3685-1849C>G)
c.7469C>G (p.Ser2490Trp)
c.7316C>G (p.Ser2439Trp)
c.6568C>G
c.4348C>G
c.3612C>G (n.3612C>G)
c.2920C>G (n.2920C>G)
c.7517C>G (p.Ser2506Trp)
Xg.41230538C>TCA412754545USP9Xc.7484C>T (p.Ser2495Leu)
c.7532C>T (p.Ser2511Leu)
c.3685-1849C>T (n.3685-1849C>T)
c.7469C>T (p.Ser2490Leu)
c.7316C>T (p.Ser2439Leu)
c.6568C>T
c.4348C>T
c.3612C>T (n.3612C>T)
c.2920C>T (n.2920C>T)
c.7517C>T (p.Ser2506Leu)
 gnomAD v4
Xg.41230539G>ACA10389231USP9Xc.7485G>A (p.Ser2495=)
c.7533G>A (p.Ser2511=)
c.3685-1848G>A (n.3685-1848G>A)
c.7470G>A (p.Ser2490=)
c.7317G>A (p.Ser2439=)
c.6569G>A
c.4349G>A
c.3613G>A (n.3613G>A)
c.2921G>A (n.2921G>A)
c.7518G>A (p.Ser2506=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.41230539G>CCA515960757USP9Xc.7485G>C (p.Ser2495=)
c.7533G>C (p.Ser2511=)
c.3685-1848G>C (n.3685-1848G>C)
c.7470G>C (p.Ser2490=)
c.7317G>C (p.Ser2439=)
c.6569G>C
c.4349G>C
c.3613G>C (n.3613G>C)
c.2921G>C (n.2921G>C)
c.7518G>C (p.Ser2506=)
Xg.41230539G=CA2425838775USP9Xc.7485G= (p.Ser2495=)
c.7533G= (p.Ser2511=)
c.3685-1848G= (n.3685-1848G=)
c.7470G= (p.Ser2490=)
c.7317G= (p.Ser2439=)
c.6569G=
c.4349G=
c.3613G= (n.3613G=)
c.2921G= (n.2921G=)
c.7518G= (p.Ser2506=)
Xg.41230539G>TCA515960756USP9Xc.7485G>T (p.Ser2495=)
c.7533G>T (p.Ser2511=)
c.3685-1848G>T (n.3685-1848G>T)
c.7470G>T (p.Ser2490=)
c.7317G>T (p.Ser2439=)
c.6569G>T
c.4349G>T
c.3613G>T (n.3613G>T)
c.2921G>T (n.2921G>T)
c.7518G>T (p.Ser2506=)
 gnomAD v4
Xg.41230540C>ACA412754550USP9Xc.7486C>A (p.Pro2496Thr)
c.7534C>A (p.Pro2512Thr)
c.3685-1847C>A (n.3685-1847C>A)
c.7471C>A (p.Pro2491Thr)
c.7318C>A (p.Pro2440Thr)
c.6570C>A
c.4350C>A
c.3614C>A (n.3614C>A)
c.2922C>A (n.2922C>A)
c.7519C>A (p.Pro2507Thr)
Xg.41230540C=CA2425838776USP9Xc.7486C= (p.Pro2496=)
c.7534C= (p.Pro2512=)
c.3685-1847C= (n.3685-1847C=)
c.7471C= (p.Pro2491=)
c.7318C= (p.Pro2440=)
c.6570C=
c.4350C=
c.3614C= (n.3614C=)
c.2922C= (n.2922C=)
c.7519C= (p.Pro2507=)
Xg.41230540C>GCA412754554USP9Xc.7486C>G (p.Pro2496Ala)
c.7534C>G (p.Pro2512Ala)
c.3685-1847C>G (n.3685-1847C>G)
c.7471C>G (p.Pro2491Ala)
c.7318C>G (p.Pro2440Ala)
c.6570C>G
c.4350C>G
c.3614C>G (n.3614C>G)
c.2922C>G (n.2922C>G)
c.7519C>G (p.Pro2507Ala)
Xg.41230540C>TCA10389232USP9Xc.7486C>T (p.Pro2496Ser)
c.7534C>T (p.Pro2512Ser)
c.3685-1847C>T (n.3685-1847C>T)
c.7471C>T (p.Pro2491Ser)
c.7318C>T (p.Pro2440Ser)
c.6570C>T
c.4350C>T
c.3614C>T (n.3614C>T)
c.2922C>T (n.2922C>T)
c.7519C>T (p.Pro2507Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41230541C>ACA412754558USP9Xc.7487C>A (p.Pro2496His)
c.7535C>A (p.Pro2512His)
c.3685-1846C>A (n.3685-1846C>A)
c.7472C>A (p.Pro2491His)
c.7319C>A (p.Pro2440His)
c.6571C>A
c.4351C>A
c.3615C>A (n.3615C>A)
c.2923C>A (n.2923C>A)
c.7520C>A (p.Pro2507His)
Xg.41230541C>GCA412754561USP9Xc.7487C>G (p.Pro2496Arg)
c.7535C>G (p.Pro2512Arg)
c.3685-1846C>G (n.3685-1846C>G)
c.7472C>G (p.Pro2491Arg)
c.7319C>G (p.Pro2440Arg)
c.6571C>G
c.4351C>G
c.3615C>G (n.3615C>G)
c.2923C>G (n.2923C>G)
c.7520C>G (p.Pro2507Arg)
Xg.41230541C>TCA412754562USP9Xc.7487C>T (p.Pro2496Leu)
c.7535C>T (p.Pro2512Leu)
c.3685-1846C>T (n.3685-1846C>T)
c.7472C>T (p.Pro2491Leu)
c.7319C>T (p.Pro2440Leu)
c.6571C>T
c.4351C>T
c.3615C>T (n.3615C>T)
c.2923C>T (n.2923C>T)
c.7520C>T (p.Pro2507Leu)
 gnomAD v4
Xg.41230542T>ACA515960764USP9Xc.7488T>A (p.Pro2496=)
c.7536T>A (p.Pro2512=)
c.3685-1845T>A (n.3685-1845T>A)
c.7473T>A (p.Pro2491=)
c.7320T>A (p.Pro2440=)
c.6572T>A
c.4352T>A
c.3616T>A (n.3616T>A)
c.2924T>A (n.2924T>A)
c.7521T>A (p.Pro2507=)
Xg.41230542T>CCA515960766USP9Xc.7488T>C (p.Pro2496=)
c.7536T>C (p.Pro2512=)
c.3685-1845T>C (n.3685-1845T>C)
c.7473T>C (p.Pro2491=)
c.7320T>C (p.Pro2440=)
c.6572T>C
c.4352T>C
c.3616T>C (n.3616T>C)
c.2924T>C (n.2924T>C)
c.7521T>C (p.Pro2507=)
Xg.41230542T>GCA515960767USP9Xc.7488T>G (p.Pro2496=)
c.7536T>G (p.Pro2512=)
c.3685-1845T>G (n.3685-1845T>G)
c.7473T>G (p.Pro2491=)
c.7320T>G (p.Pro2440=)
c.6572T>G
c.4352T>G
c.3616T>G (n.3616T>G)
c.2924T>G (n.2924T>G)
c.7521T>G (p.Pro2507=)
Xg.41230543C>ACA412754566USP9Xc.7489C>A (p.Pro2497Thr)
c.7537C>A (p.Pro2513Thr)
c.3685-1844C>A (n.3685-1844C>A)
c.7474C>A (p.Pro2492Thr)
c.7321C>A (p.Pro2441Thr)
c.6573C>A
c.4353C>A
c.3617C>A (n.3617C>A)
c.2925C>A (n.2925C>A)
c.7522C>A (p.Pro2508Thr)
Xg.41230543C=CA2425838777USP9Xc.7489C= (p.Pro2497=)
c.7537C= (p.Pro2513=)
c.3685-1844C= (n.3685-1844C=)
c.7474C= (p.Pro2492=)
c.7321C= (p.Pro2441=)
c.6573C=
c.4353C=
c.3617C= (n.3617C=)
c.2925C= (n.2925C=)
c.7522C= (p.Pro2508=)
Xg.41230543C>GCA412754572USP9Xc.7489C>G (p.Pro2497Ala)
c.7537C>G (p.Pro2513Ala)
c.3685-1844C>G (n.3685-1844C>G)
c.7474C>G (p.Pro2492Ala)
c.7321C>G (p.Pro2441Ala)
c.6573C>G
c.4353C>G
c.3617C>G (n.3617C>G)
c.2925C>G (n.2925C>G)
c.7522C>G (p.Pro2508Ala)
Xg.41230543C>TCA412754569USP9Xc.7489C>T (p.Pro2497Ser)
c.7537C>T (p.Pro2513Ser)
c.3685-1844C>T (n.3685-1844C>T)
c.7474C>T (p.Pro2492Ser)
c.7321C>T (p.Pro2441Ser)
c.6573C>T
c.4353C>T
c.3617C>T (n.3617C>T)
c.2925C>T (n.2925C>T)
c.7522C>T (p.Pro2508Ser)
 dbSNP
Xg.41230544C>ACA412754574USP9Xc.7490C>A (p.Pro2497Gln)
c.7538C>A (p.Pro2513Gln)
c.3685-1843C>A (n.3685-1843C>A)
c.7475C>A (p.Pro2492Gln)
c.7322C>A (p.Pro2441Gln)
c.6574C>A
c.4354C>A
c.3618C>A (n.3618C>A)
c.2926C>A (n.2926C>A)
c.7523C>A (p.Pro2508Gln)
Xg.41230544C>GCA412754575USP9Xc.7490C>G (p.Pro2497Arg)
c.7538C>G (p.Pro2513Arg)
c.3685-1843C>G (n.3685-1843C>G)
c.7475C>G (p.Pro2492Arg)
c.7322C>G (p.Pro2441Arg)
c.6574C>G
c.4354C>G
c.3618C>G (n.3618C>G)
c.2926C>G (n.2926C>G)
c.7523C>G (p.Pro2508Arg)
Xg.41230544C>TCA412754577USP9Xc.7490C>T (p.Pro2497Leu)
c.7538C>T (p.Pro2513Leu)
c.3685-1843C>T (n.3685-1843C>T)
c.7475C>T (p.Pro2492Leu)
c.7322C>T (p.Pro2441Leu)
c.6574C>T
c.4354C>T
c.3618C>T (n.3618C>T)
c.2926C>T (n.2926C>T)
c.7523C>T (p.Pro2508Leu)
 ClinVar gnomAD v4 COSMIC COSMIC
Xg.41230545A>CCA515960774USP9Xc.7491A>C (p.Pro2497=)
c.7539A>C (p.Pro2513=)
c.3685-1842A>C (n.3685-1842A>C)
c.7476A>C (p.Pro2492=)
c.7323A>C (p.Pro2441=)
c.6575A>C
c.4355A>C
c.3619A>C (n.3619A>C)
c.2927A>C (n.2927A>C)
c.7524A>C (p.Pro2508=)
Xg.41230545A>GCA515960775USP9Xc.7491A>G (p.Pro2497=)
c.7539A>G (p.Pro2513=)
c.3685-1842A>G (n.3685-1842A>G)
c.7476A>G (p.Pro2492=)
c.7323A>G (p.Pro2441=)
c.6575A>G
c.4355A>G
c.3619A>G (n.3619A>G)
c.2927A>G (n.2927A>G)
c.7524A>G (p.Pro2508=)
 gnomAD v4
Xg.41230545A>TCA515960777USP9Xc.7491A>T (p.Pro2497=)
c.7539A>T (p.Pro2513=)
c.3685-1842A>T (n.3685-1842A>T)
c.7476A>T (p.Pro2492=)
c.7323A>T (p.Pro2441=)
c.6575A>T
c.4355A>T
c.3619A>T (n.3619A>T)
c.2927A>T (n.2927A>T)
c.7524A>T (p.Pro2508=)
Xg.41230546C>ACA412754582USP9Xc.7492C>A (p.Pro2498Thr)
c.7540C>A (p.Pro2514Thr)
c.3685-1841C>A (n.3685-1841C>A)
c.7477C>A (p.Pro2493Thr)
c.7324C>A (p.Pro2442Thr)
c.6576C>A
c.4356C>A
c.3620C>A (n.3620C>A)
c.2928C>A (n.2928C>A)
c.7525C>A (p.Pro2509Thr)
Xg.41230546C>GCA412754583USP9Xc.7492C>G (p.Pro2498Ala)
c.7540C>G (p.Pro2514Ala)
c.3685-1841C>G (n.3685-1841C>G)
c.7477C>G (p.Pro2493Ala)
c.7324C>G (p.Pro2442Ala)
c.6576C>G
c.4356C>G
c.3620C>G (n.3620C>G)
c.2928C>G (n.2928C>G)
c.7525C>G (p.Pro2509Ala)
Xg.41230546C>TCA412754585USP9Xc.7492C>T (p.Pro2498Ser)
c.7540C>T (p.Pro2514Ser)
c.3685-1841C>T (n.3685-1841C>T)
c.7477C>T (p.Pro2493Ser)
c.7324C>T (p.Pro2442Ser)
c.6576C>T
c.4356C>T
c.3620C>T (n.3620C>T)
c.2928C>T (n.2928C>T)
c.7525C>T (p.Pro2509Ser)
 gnomAD v4
Xg.41230547C>ACA412754587USP9Xc.7493C>A (p.Pro2498His)
c.7541C>A (p.Pro2514His)
c.3685-1840C>A (n.3685-1840C>A)
c.7478C>A (p.Pro2493His)
c.7325C>A (p.Pro2442His)
c.6577C>A
c.4357C>A
c.3621C>A (n.3621C>A)
c.2929C>A (n.2929C>A)
c.7526C>A (p.Pro2509His)
Xg.41230547C>GCA412754588USP9Xc.7493C>G (p.Pro2498Arg)
c.7541C>G (p.Pro2514Arg)
c.3685-1840C>G (n.3685-1840C>G)
c.7478C>G (p.Pro2493Arg)
c.7325C>G (p.Pro2442Arg)
c.6577C>G
c.4357C>G
c.3621C>G (n.3621C>G)
c.2929C>G (n.2929C>G)
c.7526C>G (p.Pro2509Arg)
Xg.41230547C>TCA412754590USP9Xc.7493C>T (p.Pro2498Leu)
c.7541C>T (p.Pro2514Leu)
c.3685-1840C>T (n.3685-1840C>T)
c.7478C>T (p.Pro2493Leu)
c.7325C>T (p.Pro2442Leu)
c.6577C>T
c.4357C>T
c.3621C>T (n.3621C>T)
c.2929C>T (n.2929C>T)
c.7526C>T (p.Pro2509Leu)
Xg.41230548T>ACA515960783USP9Xc.7494T>A (p.Pro2498=)
c.7542T>A (p.Pro2514=)
c.3685-1839T>A (n.3685-1839T>A)
c.7479T>A (p.Pro2493=)
c.7326T>A (p.Pro2442=)
c.6578T>A
c.4358T>A
c.3622T>A (n.3622T>A)
c.2930T>A (n.2930T>A)
c.7527T>A (p.Pro2509=)
Xg.41230548T>CCA515960784USP9Xc.7494T>C (p.Pro2498=)
c.7542T>C (p.Pro2514=)
c.3685-1839T>C (n.3685-1839T>C)
c.7479T>C (p.Pro2493=)
c.7326T>C (p.Pro2442=)
c.6578T>C
c.4358T>C
c.3622T>C (n.3622T>C)
c.2930T>C (n.2930T>C)
c.7527T>C (p.Pro2509=)
 dbSNP gnomAD v3 gnomAD v4
Xg.41230548T>GCA515960786USP9Xc.7494T>G (p.Pro2498=)
c.7542T>G (p.Pro2514=)
c.3685-1839T>G (n.3685-1839T>G)
c.7479T>G (p.Pro2493=)
c.7326T>G (p.Pro2442=)
c.6578T>G
c.4358T>G
c.3622T>G (n.3622T>G)
c.2930T>G (n.2930T>G)
c.7527T>G (p.Pro2509=)
 dbSNP
Xg.41230548T=CA2425838778USP9Xc.7494T= (p.Pro2498=)
c.7542T= (p.Pro2514=)
c.3685-1839T= (n.3685-1839T=)
c.7479T= (p.Pro2493=)
c.7326T= (p.Pro2442=)
c.6578T=
c.4358T=
c.3622T= (n.3622T=)
c.2930T= (n.2930T=)
c.7527T= (p.Pro2509=)
Xg.41230549G>ACA412754591USP9Xc.7495G>A (p.Glu2499Lys)
c.7543G>A (p.Glu2515Lys)
c.3685-1838G>A (n.3685-1838G>A)
c.7480G>A (p.Glu2494Lys)
c.7327G>A (p.Glu2443Lys)
c.6579G>A
c.4359G>A
c.3623G>A (n.3623G>A)
c.2931G>A (n.2931G>A)
c.7528G>A (p.Glu2510Lys)
Xg.41230549G>CCA412754593USP9Xc.7495G>C (p.Glu2499Gln)
c.7543G>C (p.Glu2515Gln)
c.3685-1838G>C (n.3685-1838G>C)
c.7480G>C (p.Glu2494Gln)
c.7327G>C (p.Glu2443Gln)
c.6579G>C
c.4359G>C
c.3623G>C (n.3623G>C)
c.2931G>C (n.2931G>C)
c.7528G>C (p.Glu2510Gln)
Xg.41230549G>TCA412754594USP9Xc.7495G>T (p.Glu2499Ter)
c.7543G>T (p.Glu2515Ter)
c.3685-1838G>T (n.3685-1838G>T)
c.7480G>T (p.Glu2494Ter)
c.7327G>T (p.Glu2443Ter)
c.6579G>T
c.4359G>T
c.3623G>T (n.3623G>T)
c.2931G>T (n.2931G>T)
c.7528G>T (p.Glu2510Ter)
Xg.41230550A>CCA412754596USP9Xc.7496A>C (p.Glu2499Ala)
c.7544A>C (p.Glu2515Ala)
c.3685-1837A>C (n.3685-1837A>C)
c.7481A>C (p.Glu2494Ala)
c.7328A>C (p.Glu2443Ala)
c.6580A>C
c.4360A>C
c.3624A>C (n.3624A>C)
c.2932A>C (n.2932A>C)
c.7529A>C (p.Glu2510Ala)
Xg.41230550A>GCA412754599USP9Xc.7496A>G (p.Glu2499Gly)
c.7544A>G (p.Glu2515Gly)
c.3685-1837A>G (n.3685-1837A>G)
c.7481A>G (p.Glu2494Gly)
c.7328A>G (p.Glu2443Gly)
c.6580A>G
c.4360A>G
c.3624A>G (n.3624A>G)
c.2932A>G (n.2932A>G)
c.7529A>G (p.Glu2510Gly)
Xg.41230550A>TCA412754598USP9Xc.7496A>T (p.Glu2499Val)
c.7544A>T (p.Glu2515Val)
c.3685-1837A>T (n.3685-1837A>T)
c.7481A>T (p.Glu2494Val)
c.7328A>T (p.Glu2443Val)
c.6580A>T
c.4360A>T
c.3624A>T (n.3624A>T)
c.2932A>T (n.2932A>T)
c.7529A>T (p.Glu2510Val)
Xg.41230551A>CCA412754601USP9Xc.7497A>C (p.Glu2499Asp)
c.7545A>C (p.Glu2515Asp)
c.3685-1836A>C (n.3685-1836A>C)
c.7482A>C (p.Glu2494Asp)
c.7329A>C (p.Glu2443Asp)
c.6581A>C
c.4361A>C
c.3625A>C (n.3625A>C)
c.2933A>C (n.2933A>C)
c.7530A>C (p.Glu2510Asp)
Xg.41230551A>GCA515960793USP9Xc.7497A>G (p.Glu2499=)
c.7545A>G (p.Glu2515=)
c.3685-1836A>G (n.3685-1836A>G)
c.7482A>G (p.Glu2494=)
c.7329A>G (p.Glu2443=)
c.6581A>G
c.4361A>G
c.3625A>G (n.3625A>G)
c.2933A>G (n.2933A>G)
c.7530A>G (p.Glu2510=)
Xg.41230551A>TCA412754602USP9Xc.7497A>T (p.Glu2499Asp)
c.7545A>T (p.Glu2515Asp)
c.3685-1836A>T (n.3685-1836A>T)
c.7482A>T (p.Glu2494Asp)
c.7329A>T (p.Glu2443Asp)
c.6581A>T
c.4361A>T
c.3625A>T (n.3625A>T)
c.2933A>T (n.2933A>T)
c.7530A>T (p.Glu2510Asp)
Xg.41230552G>ACA412754604USP9Xc.7498G>A (p.Asp2500Asn)
c.7546G>A (p.Asp2516Asn)
c.3685-1835G>A (n.3685-1835G>A)
c.7483G>A (p.Asp2495Asn)
c.7330G>A (p.Asp2444Asn)
c.6582G>A
c.4362G>A
c.3626G>A (n.3626G>A)
c.2934G>A (n.2934G>A)
c.7531G>A (p.Asp2511Asn)
Xg.41230552G>CCA412754605USP9Xc.7498G>C (p.Asp2500His)
c.7546G>C (p.Asp2516His)
c.3685-1835G>C (n.3685-1835G>C)
c.7483G>C (p.Asp2495His)
c.7330G>C (p.Asp2444His)
c.6582G>C
c.4362G>C
c.3626G>C (n.3626G>C)
c.2934G>C (n.2934G>C)
c.7531G>C (p.Asp2511His)
Xg.41230552G>TCA412754607USP9Xc.7498G>T (p.Asp2500Tyr)
c.7546G>T (p.Asp2516Tyr)
c.3685-1835G>T (n.3685-1835G>T)
c.7483G>T (p.Asp2495Tyr)
c.7330G>T (p.Asp2444Tyr)
c.6582G>T
c.4362G>T
c.3626G>T (n.3626G>T)
c.2934G>T (n.2934G>T)
c.7531G>T (p.Asp2511Tyr)
Xg.41230553A>CCA412754609USP9Xc.7499A>C (p.Asp2500Ala)
c.7547A>C (p.Asp2516Ala)
c.3685-1834A>C (n.3685-1834A>C)
c.7484A>C (p.Asp2495Ala)
c.7331A>C (p.Asp2444Ala)
c.6583A>C
c.4363A>C
c.3627A>C (n.3627A>C)
c.2935A>C (n.2935A>C)
c.7532A>C (p.Asp2511Ala)
Xg.41230553A>GCA412754610USP9Xc.7499A>G (p.Asp2500Gly)
c.7547A>G (p.Asp2516Gly)
c.3685-1834A>G (n.3685-1834A>G)
c.7484A>G (p.Asp2495Gly)
c.7331A>G (p.Asp2444Gly)
c.6583A>G
c.4363A>G
c.3627A>G (n.3627A>G)
c.2935A>G (n.2935A>G)
c.7532A>G (p.Asp2511Gly)
Xg.41230553A>TCA412754612USP9Xc.7499A>T (p.Asp2500Val)
c.7547A>T (p.Asp2516Val)
c.3685-1834A>T (n.3685-1834A>T)
c.7484A>T (p.Asp2495Val)
c.7331A>T (p.Asp2444Val)
c.6583A>T
c.4363A>T
c.3627A>T (n.3627A>T)
c.2935A>T (n.2935A>T)
c.7532A>T (p.Asp2511Val)
 gnomAD v4
Xg.41230554T>ACA412754614USP9Xc.7500T>A (p.Asp2500Glu)
c.7548T>A (p.Asp2516Glu)
c.3685-1833T>A (n.3685-1833T>A)
c.7485T>A (p.Asp2495Glu)
c.7332T>A (p.Asp2444Glu)
c.6584T>A
c.4364T>A
c.3628T>A (n.3628T>A)
c.2936T>A (n.2936T>A)
c.7533T>A (p.Asp2511Glu)
Xg.41230554T>CCA515960801USP9Xc.7500T>C (p.Asp2500=)
c.7548T>C (p.Asp2516=)
c.3685-1833T>C (n.3685-1833T>C)
c.7485T>C (p.Asp2495=)
c.7332T>C (p.Asp2444=)
c.6584T>C
c.4364T>C
c.3628T>C (n.3628T>C)
c.2936T>C (n.2936T>C)
c.7533T>C (p.Asp2511=)
Xg.41230554T>GCA412754615USP9Xc.7500T>G (p.Asp2500Glu)
c.7548T>G (p.Asp2516Glu)
c.3685-1833T>G (n.3685-1833T>G)
c.7485T>G (p.Asp2495Glu)
c.7332T>G (p.Asp2444Glu)
c.6584T>G
c.4364T>G
c.3628T>G (n.3628T>G)
c.2936T>G (n.2936T>G)
c.7533T>G (p.Asp2511Glu)
Xg.41230555G>ACA412754617USP9Xc.7501G>A (p.Ala2501Thr)
c.7549G>A (p.Ala2517Thr)
c.3685-1832G>A (n.3685-1832G>A)
c.7486G>A (p.Ala2496Thr)
c.7333G>A (p.Ala2445Thr)
c.6585G>A
c.4365G>A
c.3629G>A (n.3629G>A)
c.2937G>A (n.2937G>A)
c.7534G>A (p.Ala2512Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230555G>CCA412754618USP9Xc.7501G>C (p.Ala2501Pro)
c.7549G>C (p.Ala2517Pro)
c.3685-1832G>C (n.3685-1832G>C)
c.7486G>C (p.Ala2496Pro)
c.7333G>C (p.Ala2445Pro)
c.6585G>C
c.4365G>C
c.3629G>C (n.3629G>C)
c.2937G>C (n.2937G>C)
c.7534G>C (p.Ala2512Pro)
Xg.41230555G=CA2425838779USP9Xc.7501G= (p.Ala2501=)
c.7549G= (p.Ala2517=)
c.3685-1832G= (n.3685-1832G=)
c.7486G= (p.Ala2496=)
c.7333G= (p.Ala2445=)
c.6585G=
c.4365G=
c.3629G= (n.3629G=)
c.2937G= (n.2937G=)
c.7534G= (p.Ala2512=)
Xg.41230555G>TCA412754619USP9Xc.7501G>T (p.Ala2501Ser)
c.7549G>T (p.Ala2517Ser)
c.3685-1832G>T (n.3685-1832G>T)
c.7486G>T (p.Ala2496Ser)
c.7333G>T (p.Ala2445Ser)
c.6585G>T
c.4365G>T
c.3629G>T (n.3629G>T)
c.2937G>T (n.2937G>T)
c.7534G>T (p.Ala2512Ser)
Xg.41230556C>ACA412754621USP9Xc.7502C>A (p.Ala2501Asp)
c.7550C>A (p.Ala2517Asp)
c.3685-1831C>A (n.3685-1831C>A)
c.7487C>A (p.Ala2496Asp)
c.7334C>A (p.Ala2445Asp)
c.6586C>A
c.4366C>A
c.3630C>A (n.3630C>A)
c.2938C>A (n.2938C>A)
c.7535C>A (p.Ala2512Asp)
Xg.41230556C=CA2425838780USP9Xc.7502C= (p.Ala2501=)
c.7550C= (p.Ala2517=)
c.3685-1831C= (n.3685-1831C=)
c.7487C= (p.Ala2496=)
c.7334C= (p.Ala2445=)
c.6586C=
c.4366C=
c.3630C= (n.3630C=)
c.2938C= (n.2938C=)
c.7535C= (p.Ala2512=)
Xg.41230556C>GCA412754624USP9Xc.7502C>G (p.Ala2501Gly)
c.7550C>G (p.Ala2517Gly)
c.3685-1831C>G (n.3685-1831C>G)
c.7487C>G (p.Ala2496Gly)
c.7334C>G (p.Ala2445Gly)
c.6586C>G
c.4366C>G
c.3630C>G (n.3630C>G)
c.2938C>G (n.2938C>G)
c.7535C>G (p.Ala2512Gly)
Xg.41230556C>TCA412754623USP9Xc.7502C>T (p.Ala2501Val)
c.7550C>T (p.Ala2517Val)
c.3685-1831C>T (n.3685-1831C>T)
c.7487C>T (p.Ala2496Val)
c.7334C>T (p.Ala2445Val)
c.6586C>T
c.4366C>T
c.3630C>T (n.3630C>T)
c.2938C>T (n.2938C>T)
c.7535C>T (p.Ala2512Val)
 dbSNP gnomAD v3 gnomAD v4
Xg.41230559delCA2693481518USP9Xc.7505del (p.Pro2502HisfsTer30)
c.7553del (p.Pro2518HisfsTer30)
c.3685-1828del (n.3685-1828del)
c.7490del (p.Pro2497HisfsTer30)
c.7337del (p.Pro2446HisfsTer30)
c.6589del
c.4369del
c.3633del (n.3633del)
c.2941del (n.2941del)
c.7538del (p.Pro2513HisfsTer30)
 gnomAD v4
Xg.41230557C>ACA515960807USP9Xc.7503C>A (p.Ala2501=)
c.7551C>A (p.Ala2517=)
c.3685-1830C>A (n.3685-1830C>A)
c.7488C>A (p.Ala2496=)
c.7335C>A (p.Ala2445=)
c.6587C>A
c.4367C>A
c.3631C>A (n.3631C>A)
c.2939C>A (n.2939C>A)
c.7536C>A (p.Ala2512=)
Xg.41230557C>GCA515960809USP9Xc.7503C>G (p.Ala2501=)
c.7551C>G (p.Ala2517=)
c.3685-1830C>G (n.3685-1830C>G)
c.7488C>G (p.Ala2496=)
c.7335C>G (p.Ala2445=)
c.6587C>G
c.4367C>G
c.3631C>G (n.3631C>G)
c.2939C>G (n.2939C>G)
c.7536C>G (p.Ala2512=)
Xg.41230557C>TCA515960811USP9Xc.7503C>T (p.Ala2501=)
c.7551C>T (p.Ala2517=)
c.3685-1830C>T (n.3685-1830C>T)
c.7488C>T (p.Ala2496=)
c.7335C>T (p.Ala2445=)
c.6587C>T
c.4367C>T
c.3631C>T (n.3631C>T)
c.2939C>T (n.2939C>T)
c.7536C>T (p.Ala2512=)
Xg.41230558C>ACA412754625USP9Xc.7504C>A (p.Pro2502Thr)
c.7552C>A (p.Pro2518Thr)
c.3685-1829C>A (n.3685-1829C>A)
c.7489C>A (p.Pro2497Thr)
c.7336C>A (p.Pro2446Thr)
c.6588C>A
c.4368C>A
c.3632C>A (n.3632C>A)
c.2940C>A (n.2940C>A)
c.7537C>A (p.Pro2513Thr)
Xg.41230558C>GCA412754627USP9Xc.7504C>G (p.Pro2502Ala)
c.7552C>G (p.Pro2518Ala)
c.3685-1829C>G (n.3685-1829C>G)
c.7489C>G (p.Pro2497Ala)
c.7336C>G (p.Pro2446Ala)
c.6588C>G
c.4368C>G
c.3632C>G (n.3632C>G)
c.2940C>G (n.2940C>G)
c.7537C>G (p.Pro2513Ala)
Xg.41230558C>TCA412754629USP9Xc.7504C>T (p.Pro2502Ser)
c.7552C>T (p.Pro2518Ser)
c.3685-1829C>T (n.3685-1829C>T)
c.7489C>T (p.Pro2497Ser)
c.7336C>T (p.Pro2446Ser)
c.6588C>T
c.4368C>T
c.3632C>T (n.3632C>T)
c.2940C>T (n.2940C>T)
c.7537C>T (p.Pro2513Ser)
Xg.41230559C>ACA412754631USP9Xc.7505C>A (p.Pro2502Gln)
c.7553C>A (p.Pro2518Gln)
c.3685-1828C>A (n.3685-1828C>A)
c.7490C>A (p.Pro2497Gln)
c.7337C>A (p.Pro2446Gln)
c.6589C>A
c.4369C>A
c.3633C>A (n.3633C>A)
c.2941C>A (n.2941C>A)
c.7538C>A (p.Pro2513Gln)
Xg.41230559C>GCA412754632USP9Xc.7505C>G (p.Pro2502Arg)
c.7553C>G (p.Pro2518Arg)
c.3685-1828C>G (n.3685-1828C>G)
c.7490C>G (p.Pro2497Arg)
c.7337C>G (p.Pro2446Arg)
c.6589C>G
c.4369C>G
c.3633C>G (n.3633C>G)
c.2941C>G (n.2941C>G)
c.7538C>G (p.Pro2513Arg)
Xg.41230559C>TCA412754633USP9Xc.7505C>T (p.Pro2502Leu)
c.7553C>T (p.Pro2518Leu)
c.3685-1828C>T (n.3685-1828C>T)
c.7490C>T (p.Pro2497Leu)
c.7337C>T (p.Pro2446Leu)
c.6589C>T
c.4369C>T
c.3633C>T (n.3633C>T)
c.2941C>T (n.2941C>T)
c.7538C>T (p.Pro2513Leu)
Xg.41230560A>CCA515960818USP9Xc.7506A>C (p.Pro2502=)
c.7554A>C (p.Pro2518=)
c.3685-1827A>C (n.3685-1827A>C)
c.7491A>C (p.Pro2497=)
c.7338A>C (p.Pro2446=)
c.6590A>C
c.4370A>C
c.3634A>C (n.3634A>C)
c.2942A>C (n.2942A>C)
c.7539A>C (p.Pro2513=)
Xg.41230560A>GCA515960820USP9Xc.7506A>G (p.Pro2502=)
c.7554A>G (p.Pro2518=)
c.3685-1827A>G (n.3685-1827A>G)
c.7491A>G (p.Pro2497=)
c.7338A>G (p.Pro2446=)
c.6590A>G
c.4370A>G
c.3634A>G (n.3634A>G)
c.2942A>G (n.2942A>G)
c.7539A>G (p.Pro2513=)
 gnomAD v4
Xg.41230560A>TCA515960817USP9Xc.7506A>T (p.Pro2502=)
c.7554A>T (p.Pro2518=)
c.3685-1827A>T (n.3685-1827A>T)
c.7491A>T (p.Pro2497=)
c.7338A>T (p.Pro2446=)
c.6590A>T
c.4370A>T
c.3634A>T (n.3634A>T)
c.2942A>T (n.2942A>T)
c.7539A>T (p.Pro2513=)
Xg.41230561T>ACA412754635USP9Xc.7507T>A (p.Leu2503Met)
c.7555T>A (p.Leu2519Met)
c.3685-1826T>A (n.3685-1826T>A)
c.7492T>A (p.Leu2498Met)
c.7339T>A (p.Leu2447Met)
c.6591T>A
c.4371T>A
c.3635T>A (n.3635T>A)
c.2943T>A (n.2943T>A)
c.7540T>A (p.Leu2514Met)
Xg.41230561T>CCA515960822USP9Xc.7507T>C (p.Leu2503=)
c.7555T>C (p.Leu2519=)
c.3685-1826T>C (n.3685-1826T>C)
c.7492T>C (p.Leu2498=)
c.7339T>C (p.Leu2447=)
c.6591T>C
c.4371T>C
c.3635T>C (n.3635T>C)
c.2943T>C (n.2943T>C)
c.7540T>C (p.Leu2514=)
Xg.41230561T>GCA412754637USP9Xc.7507T>G (p.Leu2503Val)
c.7555T>G (p.Leu2519Val)
c.3685-1826T>G (n.3685-1826T>G)
c.7492T>G (p.Leu2498Val)
c.7339T>G (p.Leu2447Val)
c.6591T>G
c.4371T>G
c.3635T>G (n.3635T>G)
c.2943T>G (n.2943T>G)
c.7540T>G (p.Leu2514Val)
Xg.41230562T>ACA412754639USP9Xc.7508T>A (p.Leu2503Ter)
c.7556T>A (p.Leu2519Ter)
c.3685-1825T>A (n.3685-1825T>A)
c.7493T>A (p.Leu2498Ter)
c.7340T>A (p.Leu2447Ter)
c.6592T>A
c.4372T>A
c.3636T>A (n.3636T>A)
c.2944T>A (n.2944T>A)
c.7541T>A (p.Leu2514Ter)
Xg.41230562T>CCA412754640USP9Xc.7508T>C (p.Leu2503Ser)
c.7556T>C (p.Leu2519Ser)
c.3685-1825T>C (n.3685-1825T>C)
c.7493T>C (p.Leu2498Ser)
c.7340T>C (p.Leu2447Ser)
c.6592T>C
c.4372T>C
c.3636T>C (n.3636T>C)
c.2944T>C (n.2944T>C)
c.7541T>C (p.Leu2514Ser)
Xg.41230562T>GCA412754641USP9Xc.7508T>G (p.Leu2503Trp)
c.7556T>G (p.Leu2519Trp)
c.3685-1825T>G (n.3685-1825T>G)
c.7493T>G (p.Leu2498Trp)
c.7340T>G (p.Leu2447Trp)
c.6592T>G
c.4372T>G
c.3636T>G (n.3636T>G)
c.2944T>G (n.2944T>G)
c.7541T>G (p.Leu2514Trp)
Xg.41230563G>ACA515960828USP9Xc.7509G>A (p.Leu2503=)
c.7557G>A (p.Leu2519=)
c.3685-1824G>A (n.3685-1824G>A)
c.7494G>A (p.Leu2498=)
c.7341G>A (p.Leu2447=)
c.6593G>A
c.4373G>A
c.3637G>A (n.3637G>A)
c.2945G>A (n.2945G>A)
c.7542G>A (p.Leu2514=)
Xg.41230563G>CCA412754645USP9Xc.7509G>C (p.Leu2503Phe)
c.7557G>C (p.Leu2519Phe)
c.3685-1824G>C (n.3685-1824G>C)
c.7494G>C (p.Leu2498Phe)
c.7341G>C (p.Leu2447Phe)
c.6593G>C
c.4373G>C
c.3637G>C (n.3637G>C)
c.2945G>C (n.2945G>C)
c.7542G>C (p.Leu2514Phe)
Xg.41230563G>TCA412754643USP9Xc.7509G>T (p.Leu2503Phe)
c.7557G>T (p.Leu2519Phe)
c.3685-1824G>T (n.3685-1824G>T)
c.7494G>T (p.Leu2498Phe)
c.7341G>T (p.Leu2447Phe)
c.6593G>T
c.4373G>T
c.3637G>T (n.3637G>T)
c.2945G>T (n.2945G>T)
c.7542G>T (p.Leu2514Phe)
Xg.41230564T>ACA412754646USP9Xc.7510T>A (p.Tyr2504Asn)
c.7558T>A (p.Tyr2520Asn)
c.3685-1823T>A (n.3685-1823T>A)
c.7495T>A (p.Tyr2499Asn)
c.7342T>A (p.Tyr2448Asn)
c.6594T>A
c.4374T>A
c.3638T>A (n.3638T>A)
c.2946T>A (n.2946T>A)
c.7543T>A (p.Tyr2515Asn)
Xg.41230564T>CCA412754649USP9Xc.7510T>C (p.Tyr2504His)
c.7558T>C (p.Tyr2520His)
c.3685-1823T>C (n.3685-1823T>C)
c.7495T>C (p.Tyr2499His)
c.7342T>C (p.Tyr2448His)
c.6594T>C
c.4374T>C
c.3638T>C (n.3638T>C)
c.2946T>C (n.2946T>C)
c.7543T>C (p.Tyr2515His)
Xg.41230564T>GCA412754648USP9Xc.7510T>G (p.Tyr2504Asp)
c.7558T>G (p.Tyr2520Asp)
c.3685-1823T>G (n.3685-1823T>G)
c.7495T>G (p.Tyr2499Asp)
c.7342T>G (p.Tyr2448Asp)
c.6594T>G
c.4374T>G
c.3638T>G (n.3638T>G)
c.2946T>G (n.2946T>G)
c.7543T>G (p.Tyr2515Asp)
Xg.41230565delCA2579588236USP9Xc.7511del (p.Tyr2504SerfsTer28)
c.7559del (p.Tyr2520SerfsTer28)
c.3685-1822del (n.3685-1822del)
c.7496del (p.Tyr2499SerfsTer28)
c.7343del (p.Tyr2448SerfsTer28)
c.6595del
c.4375del
c.3639del (n.3639del)
c.2947del (n.2947del)
c.7544del (p.Tyr2515SerfsTer28)
Xg.41230565A>CCA412754651USP9Xc.7511A>C (p.Tyr2504Ser)
c.7559A>C (p.Tyr2520Ser)
c.3685-1822A>C (n.3685-1822A>C)
c.7496A>C (p.Tyr2499Ser)
c.7343A>C (p.Tyr2448Ser)
c.6595A>C
c.4375A>C
c.3639A>C (n.3639A>C)
c.2947A>C (n.2947A>C)
c.7544A>C (p.Tyr2515Ser)
Xg.41230565A>GCA412754654USP9Xc.7511A>G (p.Tyr2504Cys)
c.7559A>G (p.Tyr2520Cys)
c.3685-1822A>G (n.3685-1822A>G)
c.7496A>G (p.Tyr2499Cys)
c.7343A>G (p.Tyr2448Cys)
c.6595A>G
c.4375A>G
c.3639A>G (n.3639A>G)
c.2947A>G (n.2947A>G)
c.7544A>G (p.Tyr2515Cys)
Xg.41230565A>TCA412754653USP9Xc.7511A>T (p.Tyr2504Phe)
c.7559A>T (p.Tyr2520Phe)
c.3685-1822A>T (n.3685-1822A>T)
c.7496A>T (p.Tyr2499Phe)
c.7343A>T (p.Tyr2448Phe)
c.6595A>T
c.4375A>T
c.3639A>T (n.3639A>T)
c.2947A>T (n.2947A>T)
c.7544A>T (p.Tyr2515Phe)
Xg.41230566C>ACA412754655USP9Xc.7512C>A (p.Tyr2504Ter)
c.7560C>A (p.Tyr2520Ter)
c.3685-1821C>A (n.3685-1821C>A)
c.7497C>A (p.Tyr2499Ter)
c.7344C>A (p.Tyr2448Ter)
c.6596C>A
c.4376C>A
c.3640C>A (n.3640C>A)
c.2948C>A (n.2948C>A)
c.7545C>A (p.Tyr2515Ter)
Xg.41230566C>GCA412754657USP9Xc.7512C>G (p.Tyr2504Ter)
c.7560C>G (p.Tyr2520Ter)
c.3685-1821C>G (n.3685-1821C>G)
c.7497C>G (p.Tyr2499Ter)
c.7344C>G (p.Tyr2448Ter)
c.6596C>G
c.4376C>G
c.3640C>G (n.3640C>G)
c.2948C>G (n.2948C>G)
c.7545C>G (p.Tyr2515Ter)
Xg.41230566C>TCA515960834USP9Xc.7512C>T (p.Tyr2504=)
c.7560C>T (p.Tyr2520=)
c.3685-1821C>T (n.3685-1821C>T)
c.7497C>T (p.Tyr2499=)
c.7344C>T (p.Tyr2448=)
c.6596C>T
c.4376C>T
c.3640C>T (n.3640C>T)
c.2948C>T (n.2948C>T)
c.7545C>T (p.Tyr2515=)
 gnomAD v4
Xg.41230567C>ACA412754659USP9Xc.7513C>A (p.Pro2505Thr)
c.7561C>A (p.Pro2521Thr)
c.3685-1820C>A (n.3685-1820C>A)
c.7498C>A (p.Pro2500Thr)
c.7345C>A (p.Pro2449Thr)
c.6597C>A
c.4377C>A
c.3641C>A (n.3641C>A)
c.2949C>A (n.2949C>A)
c.7546C>A (p.Pro2516Thr)
Xg.41230567C>GCA412754660USP9Xc.7513C>G (p.Pro2505Ala)
c.7561C>G (p.Pro2521Ala)
c.3685-1820C>G (n.3685-1820C>G)
c.7498C>G (p.Pro2500Ala)
c.7345C>G (p.Pro2449Ala)
c.6597C>G
c.4377C>G
c.3641C>G (n.3641C>G)
c.2949C>G (n.2949C>G)
c.7546C>G (p.Pro2516Ala)
Xg.41230567C>TCA412754662USP9Xc.7513C>T (p.Pro2505Ser)
c.7561C>T (p.Pro2521Ser)
c.3685-1820C>T (n.3685-1820C>T)
c.7498C>T (p.Pro2500Ser)
c.7345C>T (p.Pro2449Ser)
c.6597C>T
c.4377C>T
c.3641C>T (n.3641C>T)
c.2949C>T (n.2949C>T)
c.7546C>T (p.Pro2516Ser)
Xg.41230568C>ACA412754664USP9Xc.7514C>A (p.Pro2505His)
c.7562C>A (p.Pro2521His)
c.3685-1819C>A (n.3685-1819C>A)
c.7499C>A (p.Pro2500His)
c.7346C>A (p.Pro2449His)
c.6598C>A
c.4378C>A
c.3642C>A (n.3642C>A)
c.2950C>A (n.2950C>A)
c.7547C>A (p.Pro2516His)
Xg.41230568C>GCA412754666USP9Xc.7514C>G (p.Pro2505Arg)
c.7562C>G (p.Pro2521Arg)
c.3685-1819C>G (n.3685-1819C>G)
c.7499C>G (p.Pro2500Arg)
c.7346C>G (p.Pro2449Arg)
c.6598C>G
c.4378C>G
c.3642C>G (n.3642C>G)
c.2950C>G (n.2950C>G)
c.7547C>G (p.Pro2516Arg)
Xg.41230568C>TCA412754668USP9Xc.7514C>T (p.Pro2505Leu)
c.7562C>T (p.Pro2521Leu)
c.3685-1819C>T (n.3685-1819C>T)
c.7499C>T (p.Pro2500Leu)
c.7346C>T (p.Pro2449Leu)
c.6598C>T
c.4378C>T
c.3642C>T (n.3642C>T)
c.2950C>T (n.2950C>T)
c.7547C>T (p.Pro2516Leu)
Xg.41230569C>ACA515960841USP9Xc.7515C>A (p.Pro2505=)
c.7563C>A (p.Pro2521=)
c.3685-1818C>A (n.3685-1818C>A)
c.7500C>A (p.Pro2500=)
c.7347C>A (p.Pro2449=)
c.6599C>A
c.4379C>A
c.3643C>A (n.3643C>A)
c.2951C>A (n.2951C>A)
c.7548C>A (p.Pro2516=)
Xg.41230569C>GCA515960842USP9Xc.7515C>G (p.Pro2505=)
c.7563C>G (p.Pro2521=)
c.3685-1818C>G (n.3685-1818C>G)
c.7500C>G (p.Pro2500=)
c.7347C>G (p.Pro2449=)
c.6599C>G
c.4379C>G
c.3643C>G (n.3643C>G)
c.2951C>G (n.2951C>G)
c.7548C>G (p.Pro2516=)
Xg.41230569C>TCA515960844USP9Xc.7515C>T (p.Pro2505=)
c.7563C>T (p.Pro2521=)
c.3685-1818C>T (n.3685-1818C>T)
c.7500C>T (p.Pro2500=)
c.7347C>T (p.Pro2449=)
c.6599C>T
c.4379C>T
c.3643C>T (n.3643C>T)
c.2951C>T (n.2951C>T)
c.7548C>T (p.Pro2516=)
 gnomAD v4
Xg.41230570C>ACA412754669USP9Xc.7516C>A (p.His2506Asn)
c.7564C>A (p.His2522Asn)
c.3685-1817C>A (n.3685-1817C>A)
c.7501C>A (p.His2501Asn)
c.7348C>A (p.His2450Asn)
c.6600C>A
c.4380C>A
c.3644C>A (n.3644C>A)
c.2952C>A (n.2952C>A)
c.7549C>A (p.His2517Asn)
Xg.41230570C=CA2425838781USP9Xc.7516C= (p.His2506=)
c.7564C= (p.His2522=)
c.3685-1817C= (n.3685-1817C=)
c.7501C= (p.His2501=)
c.7348C= (p.His2450=)
c.6600C=
c.4380C=
c.3644C= (n.3644C=)
c.2952C= (n.2952C=)
c.7549C= (p.His2517=)
Xg.41230570C>GCA412754670USP9Xc.7516C>G (p.His2506Asp)
c.7564C>G (p.His2522Asp)
c.3685-1817C>G (n.3685-1817C>G)
c.7501C>G (p.His2501Asp)
c.7348C>G (p.His2450Asp)
c.6600C>G
c.4380C>G
c.3644C>G (n.3644C>G)
c.2952C>G (n.2952C>G)
c.7549C>G (p.His2517Asp)
Xg.41230570C>TCA412754672USP9Xc.7516C>T (p.His2506Tyr)
c.7564C>T (p.His2522Tyr)
c.3685-1817C>T (n.3685-1817C>T)
c.7501C>T (p.His2501Tyr)
c.7348C>T (p.His2450Tyr)
c.6600C>T
c.4380C>T
c.3644C>T (n.3644C>T)
c.2952C>T (n.2952C>T)
c.7549C>T (p.His2517Tyr)
 dbSNP gnomAD v2 gnomAD v4
Xg.41230571A>CCA412754674USP9Xc.7517A>C (p.His2506Pro)
c.7565A>C (p.His2522Pro)
c.3685-1816A>C (n.3685-1816A>C)
c.7502A>C (p.His2501Pro)
c.7349A>C (p.His2450Pro)
c.6601A>C
c.4381A>C
c.3645A>C (n.3645A>C)
c.2953A>C (n.2953A>C)
c.7550A>C (p.His2517Pro)
Xg.41230571A>GCA412754676USP9Xc.7517A>G (p.His2506Arg)
c.7565A>G (p.His2522Arg)
c.3685-1816A>G (n.3685-1816A>G)
c.7502A>G (p.His2501Arg)
c.7349A>G (p.His2450Arg)
c.6601A>G
c.4381A>G
c.3645A>G (n.3645A>G)
c.2953A>G (n.2953A>G)
c.7550A>G (p.His2517Arg)
Xg.41230571A>TCA412754677USP9Xc.7517A>T (p.His2506Leu)
c.7565A>T (p.His2522Leu)
c.3685-1816A>T (n.3685-1816A>T)
c.7502A>T (p.His2501Leu)
c.7349A>T (p.His2450Leu)
c.6601A>T
c.4381A>T
c.3645A>T (n.3645A>T)
c.2953A>T (n.2953A>T)
c.7550A>T (p.His2517Leu)
Xg.41230572T>ACA412754680USP9Xc.7518T>A (p.His2506Gln)
c.7566T>A (p.His2522Gln)
c.3685-1815T>A (n.3685-1815T>A)
c.7503T>A (p.His2501Gln)
c.7350T>A (p.His2450Gln)
c.6602T>A
c.4382T>A
c.3646T>A (n.3646T>A)
c.2954T>A (n.2954T>A)
c.7551T>A (p.His2517Gln)
Xg.41230572T>CCA515960851USP9Xc.7518T>C (p.His2506=)
c.7566T>C (p.His2522=)
c.3685-1815T>C (n.3685-1815T>C)
c.7503T>C (p.His2501=)
c.7350T>C (p.His2450=)
c.6602T>C
c.4382T>C
c.3646T>C (n.3646T>C)
c.2954T>C (n.2954T>C)
c.7551T>C (p.His2517=)
Xg.41230572T>GCA412754679USP9Xc.7518T>G (p.His2506Gln)
c.7566T>G (p.His2522Gln)
c.3685-1815T>G (n.3685-1815T>G)
c.7503T>G (p.His2501Gln)
c.7350T>G (p.His2450Gln)
c.6602T>G
c.4382T>G
c.3646T>G (n.3646T>G)
c.2954T>G (n.2954T>G)
c.7551T>G (p.His2517Gln)
Xg.41230573T>ACA412754682USP9Xc.7519T>A (p.Ser2507Thr)
c.7567T>A (p.Ser2523Thr)
c.3685-1814T>A (n.3685-1814T>A)
c.7504T>A (p.Ser2502Thr)
c.7351T>A (p.Ser2451Thr)
c.6603T>A
c.4383T>A
c.3647T>A (n.3647T>A)
c.2955T>A (n.2955T>A)
c.7552T>A (p.Ser2518Thr)
Xg.41230573T>CCA412754684USP9Xc.7519T>C (p.Ser2507Pro)
c.7567T>C (p.Ser2523Pro)
c.3685-1814T>C (n.3685-1814T>C)
c.7504T>C (p.Ser2502Pro)
c.7351T>C (p.Ser2451Pro)
c.6603T>C
c.4383T>C
c.3647T>C (n.3647T>C)
c.2955T>C (n.2955T>C)
c.7552T>C (p.Ser2518Pro)
Xg.41230573T>GCA412754685USP9Xc.7519T>G (p.Ser2507Ala)
c.7567T>G (p.Ser2523Ala)
c.3685-1814T>G (n.3685-1814T>G)
c.7504T>G (p.Ser2502Ala)
c.7351T>G (p.Ser2451Ala)
c.6603T>G
c.4383T>G
c.3647T>G (n.3647T>G)
c.2955T>G (n.2955T>G)
c.7552T>G (p.Ser2518Ala)
Xg.41230574C>ACA412754687USP9Xc.7520C>A (p.Ser2507Ter)
c.7568C>A (p.Ser2523Ter)
c.3685-1813C>A (n.3685-1813C>A)
c.7505C>A (p.Ser2502Ter)
c.7352C>A (p.Ser2451Ter)
c.6604C>A
c.4384C>A
c.3648C>A (n.3648C>A)
c.2956C>A (n.2956C>A)
c.7553C>A (p.Ser2518Ter)
Xg.41230574C>GCA412754689USP9Xc.7520C>G (p.Ser2507Ter)
c.7568C>G (p.Ser2523Ter)
c.3685-1813C>G (n.3685-1813C>G)
c.7505C>G (p.Ser2502Ter)
c.7352C>G (p.Ser2451Ter)
c.6604C>G
c.4384C>G
c.3648C>G (n.3648C>G)
c.2956C>G (n.2956C>G)
c.7553C>G (p.Ser2518Ter)
Xg.41230574C>TCA412754690USP9Xc.7520C>T (p.Ser2507Leu)
c.7568C>T (p.Ser2523Leu)
c.3685-1813C>T (n.3685-1813C>T)
c.7505C>T (p.Ser2502Leu)
c.7352C>T (p.Ser2451Leu)
c.6604C>T
c.4384C>T
c.3648C>T (n.3648C>T)
c.2956C>T (n.2956C>T)
c.7553C>T (p.Ser2518Leu)
Xg.41230575A=CA2425838782USP9Xc.7521A= (p.Ser2507=)
c.7569A= (p.Ser2523=)
c.3685-1812A= (n.3685-1812A=)
c.7506A= (p.Ser2502=)
c.7353A= (p.Ser2451=)
c.6605A=
c.4385A=
c.3649A= (n.3649A=)
c.2957A= (n.2957A=)
c.7554A= (p.Ser2518=)
Xg.41230575A>CCA515960852USP9Xc.7521A>C (p.Ser2507=)
c.7569A>C (p.Ser2523=)
c.3685-1812A>C (n.3685-1812A>C)
c.7506A>C (p.Ser2502=)
c.7353A>C (p.Ser2451=)
c.6605A>C
c.4385A>C
c.3649A>C (n.3649A>C)
c.2957A>C (n.2957A>C)
c.7554A>C (p.Ser2518=)
Xg.41230575A>GCA515960853USP9Xc.7521A>G (p.Ser2507=)
c.7569A>G (p.Ser2523=)
c.3685-1812A>G (n.3685-1812A>G)
c.7506A>G (p.Ser2502=)
c.7353A>G (p.Ser2451=)
c.6605A>G
c.4385A>G
c.3649A>G (n.3649A>G)
c.2957A>G (n.2957A>G)
c.7554A>G (p.Ser2518=)
Xg.41230575A>TCA10389233USP9Xc.7521A>T (p.Ser2507=)
c.7569A>T (p.Ser2523=)
c.3685-1812A>T (n.3685-1812A>T)
c.7506A>T (p.Ser2502=)
c.7353A>T (p.Ser2451=)
c.6605A>T
c.4385A>T
c.3649A>T (n.3649A>T)
c.2957A>T (n.2957A>T)
c.7554A>T (p.Ser2518=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41230576C>ACA412754693USP9Xc.7522C>A (p.Pro2508Thr)
c.7570C>A (p.Pro2524Thr)
c.3685-1811C>A (n.3685-1811C>A)
c.7507C>A (p.Pro2503Thr)
c.7354C>A (p.Pro2452Thr)
c.6606C>A
c.4386C>A
c.3650C>A (n.3650C>A)
c.2958C>A (n.2958C>A)
c.7555C>A (p.Pro2519Thr)
Xg.41230576C=CA2425838783USP9Xc.7522C= (p.Pro2508=)
c.7570C= (p.Pro2524=)
c.3685-1811C= (n.3685-1811C=)
c.7507C= (p.Pro2503=)
c.7354C= (p.Pro2452=)
c.6606C=
c.4386C=
c.3650C= (n.3650C=)
c.2958C= (n.2958C=)
c.7555C= (p.Pro2519=)
Xg.41230576C>GCA412754694USP9Xc.7522C>G (p.Pro2508Ala)
c.7570C>G (p.Pro2524Ala)
c.3685-1811C>G (n.3685-1811C>G)
c.7507C>G (p.Pro2503Ala)
c.7354C>G (p.Pro2452Ala)
c.6606C>G
c.4386C>G
c.3650C>G (n.3650C>G)
c.2958C>G (n.2958C>G)
c.7555C>G (p.Pro2519Ala)
Xg.41230576C>TCA328996796USP9Xc.7522C>T (p.Pro2508Ser)
c.7570C>T (p.Pro2524Ser)
c.3685-1811C>T (n.3685-1811C>T)
c.7507C>T (p.Pro2503Ser)
c.7354C>T (p.Pro2452Ser)
c.6606C>T
c.4386C>T
c.3650C>T (n.3650C>T)
c.2958C>T (n.2958C>T)
c.7555C>T (p.Pro2519Ser)
 ClinVar dbSNP gnomAD v4
Xg.41230577C>ACA412754697USP9Xc.7523C>A (p.Pro2508His)
c.7571C>A (p.Pro2524His)
c.3685-1810C>A (n.3685-1810C>A)
c.7508C>A (p.Pro2503His)
c.7355C>A (p.Pro2452His)
c.6607C>A
c.4387C>A
c.3651C>A (n.3651C>A)
c.2959C>A (n.2959C>A)
c.7556C>A (p.Pro2519His)
Xg.41230577C>GCA412754699USP9Xc.7523C>G (p.Pro2508Arg)
c.7571C>G (p.Pro2524Arg)
c.3685-1810C>G (n.3685-1810C>G)
c.7508C>G (p.Pro2503Arg)
c.7355C>G (p.Pro2452Arg)
c.6607C>G
c.4387C>G
c.3651C>G (n.3651C>G)
c.2959C>G (n.2959C>G)
c.7556C>G (p.Pro2519Arg)
Xg.41230577C>TCA412754700USP9Xc.7523C>T (p.Pro2508Leu)
c.7571C>T (p.Pro2524Leu)
c.3685-1810C>T (n.3685-1810C>T)
c.7508C>T (p.Pro2503Leu)
c.7355C>T (p.Pro2452Leu)
c.6607C>T
c.4387C>T
c.3651C>T (n.3651C>T)
c.2959C>T (n.2959C>T)
c.7556C>T (p.Pro2519Leu)
Xg.41230578T>ACA515960854USP9Xc.7524T>A (p.Pro2508=)
c.7572T>A (p.Pro2524=)
c.3685-1809T>A (n.3685-1809T>A)
c.7509T>A (p.Pro2503=)
c.7356T>A (p.Pro2452=)
c.6608T>A
c.4388T>A
c.3652T>A (n.3652T>A)
c.2960T>A (n.2960T>A)
c.7557T>A (p.Pro2519=)
Xg.41230578T>CCA515960855USP9Xc.7524T>C (p.Pro2508=)
c.7572T>C (p.Pro2524=)
c.3685-1809T>C (n.3685-1809T>C)
c.7509T>C (p.Pro2503=)
c.7356T>C (p.Pro2452=)
c.6608T>C
c.4388T>C
c.3652T>C (n.3652T>C)
c.2960T>C (n.2960T>C)
c.7557T>C (p.Pro2519=)
Xg.41230578T>GCA515960856USP9Xc.7524T>G (p.Pro2508=)
c.7572T>G (p.Pro2524=)
c.3685-1809T>G (n.3685-1809T>G)
c.7509T>G (p.Pro2503=)
c.7356T>G (p.Pro2452=)
c.6608T>G
c.4388T>G
c.3652T>G (n.3652T>G)
c.2960T>G (n.2960T>G)
c.7557T>G (p.Pro2519=)
Xg.41230579G>ACA412754702USP9Xc.7525G>A (p.Gly2509Arg)
c.7573G>A (p.Gly2525Arg)
c.3685-1808G>A (n.3685-1808G>A)
c.7510G>A (p.Gly2504Arg)
c.7357G>A (p.Gly2453Arg)
c.6609G>A
c.4389G>A
c.3653G>A (n.3653G>A)
c.2961G>A (n.2961G>A)
c.7558G>A (p.Gly2520Arg)
Xg.41230579G>CCA412754705USP9Xc.7525G>C (p.Gly2509Arg)
c.7573G>C (p.Gly2525Arg)
c.3685-1808G>C (n.3685-1808G>C)
c.7510G>C (p.Gly2504Arg)
c.7357G>C (p.Gly2453Arg)
c.6609G>C
c.4389G>C
c.3653G>C (n.3653G>C)
c.2961G>C (n.2961G>C)
c.7558G>C (p.Gly2520Arg)
Xg.41230579G>TCA412754703USP9Xc.7525G>T (p.Gly2509Ter)
c.7573G>T (p.Gly2525Ter)
c.3685-1808G>T (n.3685-1808G>T)
c.7510G>T (p.Gly2504Ter)
c.7357G>T (p.Gly2453Ter)
c.6609G>T
c.4389G>T
c.3653G>T (n.3653G>T)
c.2961G>T (n.2961G>T)
c.7558G>T (p.Gly2520Ter)
Xg.41230580G>ACA10389234USP9Xc.7526G>A (p.Gly2509Glu)
c.7574G>A (p.Gly2525Glu)
c.3685-1807G>A (n.3685-1807G>A)
c.7511G>A (p.Gly2504Glu)
c.7358G>A (p.Gly2453Glu)
c.6610G>A
c.4390G>A
c.3654G>A (n.3654G>A)
c.2962G>A (n.2962G>A)
c.7559G>A (p.Gly2520Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230580G>CCA412754707USP9Xc.7526G>C (p.Gly2509Ala)
c.7574G>C (p.Gly2525Ala)
c.3685-1807G>C (n.3685-1807G>C)
c.7511G>C (p.Gly2504Ala)
c.7358G>C (p.Gly2453Ala)
c.6610G>C
c.4390G>C
c.3654G>C (n.3654G>C)
c.2962G>C (n.2962G>C)
c.7559G>C (p.Gly2520Ala)
Xg.41230580G=CA2425838784USP9Xc.7526G= (p.Gly2509=)
c.7574G= (p.Gly2525=)
c.3685-1807G= (n.3685-1807G=)
c.7511G= (p.Gly2504=)
c.7358G= (p.Gly2453=)
c.6610G=
c.4390G=
c.3654G= (n.3654G=)
c.2962G= (n.2962G=)
c.7559G= (p.Gly2520=)
Xg.41230580G>TCA412754708USP9Xc.7526G>T (p.Gly2509Val)
c.7574G>T (p.Gly2525Val)
c.3685-1807G>T (n.3685-1807G>T)
c.7511G>T (p.Gly2504Val)
c.7358G>T (p.Gly2453Val)
c.6610G>T
c.4390G>T
c.3654G>T (n.3654G>T)
c.2962G>T (n.2962G>T)
c.7559G>T (p.Gly2520Val)
Xg.41230581A>CCA515960859USP9Xc.7527A>C (p.Gly2509=)
c.7575A>C (p.Gly2525=)
c.3685-1806A>C (n.3685-1806A>C)
c.7512A>C (p.Gly2504=)
c.7359A>C (p.Gly2453=)
c.6611A>C
c.4391A>C
c.3655A>C (n.3655A>C)
c.2963A>C (n.2963A>C)
c.7560A>C (p.Gly2520=)
Xg.41230581A>GCA515960857USP9Xc.7527A>G (p.Gly2509=)
c.7575A>G (p.Gly2525=)
c.3685-1806A>G (n.3685-1806A>G)
c.7512A>G (p.Gly2504=)
c.7359A>G (p.Gly2453=)
c.6611A>G
c.4391A>G
c.3655A>G (n.3655A>G)
c.2963A>G (n.2963A>G)
c.7560A>G (p.Gly2520=)
Xg.41230581A>TCA515960858USP9Xc.7527A>T (p.Gly2509=)
c.7575A>T (p.Gly2525=)
c.3685-1806A>T (n.3685-1806A>T)
c.7512A>T (p.Gly2504=)
c.7359A>T (p.Gly2453=)
c.6611A>T
c.4391A>T
c.3655A>T (n.3655A>T)
c.2963A>T (n.2963A>T)
c.7560A>T (p.Gly2520=)
Xg.41230582T>ACA412754710USP9Xc.7528T>A (p.Ser2510Thr)
c.7576T>A (p.Ser2526Thr)
c.3685-1805T>A (n.3685-1805T>A)
c.7513T>A (p.Ser2505Thr)
c.7360T>A (p.Ser2454Thr)
c.6612T>A
c.4392T>A
c.3656T>A (n.3656T>A)
c.2964T>A (n.2964T>A)
c.7561T>A (p.Ser2521Thr)
 dbSNP gnomAD v2 gnomAD v4
Xg.41230582T>CCA412754712USP9Xc.7528T>C (p.Ser2510Pro)
c.7576T>C (p.Ser2526Pro)
c.3685-1805T>C (n.3685-1805T>C)
c.7513T>C (p.Ser2505Pro)
c.7360T>C (p.Ser2454Pro)
c.6612T>C
c.4392T>C
c.3656T>C (n.3656T>C)
c.2964T>C (n.2964T>C)
c.7561T>C (p.Ser2521Pro)
Xg.41230582T>GCA412754713USP9Xc.7528T>G (p.Ser2510Ala)
c.7576T>G (p.Ser2526Ala)
c.3685-1805T>G (n.3685-1805T>G)
c.7513T>G (p.Ser2505Ala)
c.7360T>G (p.Ser2454Ala)
c.6612T>G
c.4392T>G
c.3656T>G (n.3656T>G)
c.2964T>G (n.2964T>G)
c.7561T>G (p.Ser2521Ala)
Xg.41230582T=CA2425838785USP9Xc.7528T= (p.Ser2510=)
c.7576T= (p.Ser2526=)
c.3685-1805T= (n.3685-1805T=)
c.7513T= (p.Ser2505=)
c.7360T= (p.Ser2454=)
c.6612T=
c.4392T=
c.3656T= (n.3656T=)
c.2964T= (n.2964T=)
c.7561T= (p.Ser2521=)
Xg.41230583C>ACA412754715USP9Xc.7529C>A (p.Ser2510Tyr)
c.7577C>A (p.Ser2526Tyr)
c.3685-1804C>A (n.3685-1804C>A)
c.7514C>A (p.Ser2505Tyr)
c.7361C>A (p.Ser2454Tyr)
c.6613C>A
c.4393C>A
c.3657C>A (n.3657C>A)
c.2965C>A (n.2965C>A)
c.7562C>A (p.Ser2521Tyr)
Xg.41230583C=CA2425838786USP9Xc.7529C= (p.Ser2510=)
c.7577C= (p.Ser2526=)
c.3685-1804C= (n.3685-1804C=)
c.7514C= (p.Ser2505=)
c.7361C= (p.Ser2454=)
c.6613C=
c.4393C=
c.3657C= (n.3657C=)
c.2965C= (n.2965C=)
c.7562C= (p.Ser2521=)
Xg.41230583C>GCA10389235USP9Xc.7529C>G (p.Ser2510Cys)
c.7577C>G (p.Ser2526Cys)
c.3685-1804C>G (n.3685-1804C>G)
c.7514C>G (p.Ser2505Cys)
c.7361C>G (p.Ser2454Cys)
c.6613C>G
c.4393C>G
c.3657C>G (n.3657C>G)
c.2965C>G (n.2965C>G)
c.7562C>G (p.Ser2521Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41230583C>TCA412754716USP9Xc.7529C>T (p.Ser2510Phe)
c.7577C>T (p.Ser2526Phe)
c.3685-1804C>T (n.3685-1804C>T)
c.7514C>T (p.Ser2505Phe)
c.7361C>T (p.Ser2454Phe)
c.6613C>T
c.4393C>T
c.3657C>T (n.3657C>T)
c.2965C>T (n.2965C>T)
c.7562C>T (p.Ser2521Phe)
Xg.41230584T>ACA515960860USP9Xc.7530T>A (p.Ser2510=)
c.7578T>A (p.Ser2526=)
c.3685-1803T>A (n.3685-1803T>A)
c.7515T>A (p.Ser2505=)
c.7362T>A (p.Ser2454=)
c.6614T>A
c.4394T>A
c.3658T>A (n.3658T>A)
c.2966T>A (n.2966T>A)
c.7563T>A (p.Ser2521=)
Xg.41230584T>CCA515960861USP9Xc.7530T>C (p.Ser2510=)
c.7578T>C (p.Ser2526=)
c.3685-1803T>C (n.3685-1803T>C)
c.7515T>C (p.Ser2505=)
c.7362T>C (p.Ser2454=)
c.6614T>C
c.4394T>C
c.3658T>C (n.3658T>C)
c.2966T>C (n.2966T>C)
c.7563T>C (p.Ser2521=)
Xg.41230584T>GCA515960862USP9Xc.7530T>G (p.Ser2510=)
c.7578T>G (p.Ser2526=)
c.3685-1803T>G (n.3685-1803T>G)
c.7515T>G (p.Ser2505=)
c.7362T>G (p.Ser2454=)
c.6614T>G
c.4394T>G
c.3658T>G (n.3658T>G)
c.2966T>G (n.2966T>G)
c.7563T>G (p.Ser2521=)
Xg.41230585C>ACA412754717USP9Xc.7531C>A (p.Gln2511Lys)
c.7579C>A (p.Gln2527Lys)
c.3685-1802C>A (n.3685-1802C>A)
c.7516C>A (p.Gln2506Lys)
c.7363C>A (p.Gln2455Lys)
c.6615C>A
c.4395C>A
c.3659C>A (n.3659C>A)
c.2967C>A (n.2967C>A)
c.7564C>A (p.Gln2522Lys)
Xg.41230585C>GCA412754718USP9Xc.7531C>G (p.Gln2511Glu)
c.7579C>G (p.Gln2527Glu)
c.3685-1802C>G (n.3685-1802C>G)
c.7516C>G (p.Gln2506Glu)
c.7363C>G (p.Gln2455Glu)
c.6615C>G
c.4395C>G
c.3659C>G (n.3659C>G)
c.2967C>G (n.2967C>G)
c.7564C>G (p.Gln2522Glu)
Xg.41230585C>TCA412754719USP9Xc.7531C>T (p.Gln2511Ter)
c.7579C>T (p.Gln2527Ter)
c.3685-1802C>T (n.3685-1802C>T)
c.7516C>T (p.Gln2506Ter)
c.7363C>T (p.Gln2455Ter)
c.6615C>T
c.4395C>T
c.3659C>T (n.3659C>T)
c.2967C>T (n.2967C>T)
c.7564C>T (p.Gln2522Ter)
Xg.41230586A=CA2425838787USP9Xc.7532A= (p.Gln2511=)
c.7580A= (p.Gln2527=)
c.3685-1801A= (n.3685-1801A=)
c.7517A= (p.Gln2506=)
c.7364A= (p.Gln2455=)
c.6616A=
c.4396A=
c.3660A= (n.3660A=)
c.2968A= (n.2968A=)
c.7565A= (p.Gln2522=)
Xg.41230586A>CCA10389236USP9Xc.7532A>C (p.Gln2511Pro)
c.7580A>C (p.Gln2527Pro)
c.3685-1801A>C (n.3685-1801A>C)
c.7517A>C (p.Gln2506Pro)
c.7364A>C (p.Gln2455Pro)
c.6616A>C
c.4396A>C
c.3660A>C (n.3660A>C)
c.2968A>C (n.2968A>C)
c.7565A>C (p.Gln2522Pro)
 dbSNP ExAC gnomAD v4
Xg.41230586A>GCA412754720USP9Xc.7532A>G (p.Gln2511Arg)
c.7580A>G (p.Gln2527Arg)
c.3685-1801A>G (n.3685-1801A>G)
c.7517A>G (p.Gln2506Arg)
c.7364A>G (p.Gln2455Arg)
c.6616A>G
c.4396A>G
c.3660A>G (n.3660A>G)
c.2968A>G (n.2968A>G)
c.7565A>G (p.Gln2522Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.41230586A>TCA412754721USP9Xc.7532A>T (p.Gln2511Leu)
c.7580A>T (p.Gln2527Leu)
c.3685-1801A>T (n.3685-1801A>T)
c.7517A>T (p.Gln2506Leu)
c.7364A>T (p.Gln2455Leu)
c.6616A>T
c.4396A>T
c.3660A>T (n.3660A>T)
c.2968A>T (n.2968A>T)
c.7565A>T (p.Gln2522Leu)
Xg.41230587G>ACA10389237USP9Xc.7533G>A (p.Gln2511=)
c.7581G>A (p.Gln2527=)
c.3685-1800G>A (n.3685-1800G>A)
c.7518G>A (p.Gln2506=)
c.7365G>A (p.Gln2455=)
c.6617G>A
c.4397G>A
c.3661G>A (n.3661G>A)
c.2969G>A (n.2969G>A)
c.7566G>A (p.Gln2522=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230587G>CCA412754722USP9Xc.7533G>C (p.Gln2511His)
c.7581G>C (p.Gln2527His)
c.3685-1800G>C (n.3685-1800G>C)
c.7518G>C (p.Gln2506His)
c.7365G>C (p.Gln2455His)
c.6617G>C
c.4397G>C
c.3661G>C (n.3661G>C)
c.2969G>C (n.2969G>C)
c.7566G>C (p.Gln2522His)
Xg.41230587G=CA2425838788USP9Xc.7533G= (p.Gln2511=)
c.7581G= (p.Gln2527=)
c.3685-1800G= (n.3685-1800G=)
c.7518G= (p.Gln2506=)
c.7365G= (p.Gln2455=)
c.6617G=
c.4397G=
c.3661G= (n.3661G=)
c.2969G= (n.2969G=)
c.7566G= (p.Gln2522=)
Xg.41230587G>TCA412754723USP9Xc.7533G>T (p.Gln2511His)
c.7581G>T (p.Gln2527His)
c.3685-1800G>T (n.3685-1800G>T)
c.7518G>T (p.Gln2506His)
c.7365G>T (p.Gln2455His)
c.6617G>T
c.4397G>T
c.3661G>T (n.3661G>T)
c.2969G>T (n.2969G>T)
c.7566G>T (p.Gln2522His)
Xg.41230588T>ACA412754724USP9Xc.7534T>A (p.Tyr2512Asn)
c.7582T>A (p.Tyr2528Asn)
c.3685-1799T>A (n.3685-1799T>A)
c.7519T>A (p.Tyr2507Asn)
c.7366T>A (p.Tyr2456Asn)
c.6618T>A
c.4398T>A
c.3662T>A (n.3662T>A)
c.2970T>A (n.2970T>A)
c.7567T>A (p.Tyr2523Asn)
Xg.41230588T>CCA412754725USP9Xc.7534T>C (p.Tyr2512His)
c.7582T>C (p.Tyr2528His)
c.3685-1799T>C (n.3685-1799T>C)
c.7519T>C (p.Tyr2507His)
c.7366T>C (p.Tyr2456His)
c.6618T>C
c.4398T>C
c.3662T>C (n.3662T>C)
c.2970T>C (n.2970T>C)
c.7567T>C (p.Tyr2523His)
Xg.41230588T>GCA412754726USP9Xc.7534T>G (p.Tyr2512Asp)
c.7582T>G (p.Tyr2528Asp)
c.3685-1799T>G (n.3685-1799T>G)
c.7519T>G (p.Tyr2507Asp)
c.7366T>G (p.Tyr2456Asp)
c.6618T>G
c.4398T>G
c.3662T>G (n.3662T>G)
c.2970T>G (n.2970T>G)
c.7567T>G (p.Tyr2523Asp)
Xg.41230589A>CCA412754727USP9Xc.7535A>C (p.Tyr2512Ser)
c.7583A>C (p.Tyr2528Ser)
c.3685-1798A>C (n.3685-1798A>C)
c.7520A>C (p.Tyr2507Ser)
c.7367A>C (p.Tyr2456Ser)
c.6619A>C
c.4399A>C
c.3663A>C (n.3663A>C)
c.2971A>C (n.2971A>C)
c.7568A>C (p.Tyr2523Ser)
Xg.41230589A>GCA412754728USP9Xc.7535A>G (p.Tyr2512Cys)
c.7583A>G (p.Tyr2528Cys)
c.3685-1798A>G (n.3685-1798A>G)
c.7520A>G (p.Tyr2507Cys)
c.7367A>G (p.Tyr2456Cys)
c.6619A>G
c.4399A>G
c.3663A>G (n.3663A>G)
c.2971A>G (n.2971A>G)
c.7568A>G (p.Tyr2523Cys)
Xg.41230589A>TCA412754729USP9Xc.7535A>T (p.Tyr2512Phe)
c.7583A>T (p.Tyr2528Phe)
c.3685-1798A>T (n.3685-1798A>T)
c.7520A>T (p.Tyr2507Phe)
c.7367A>T (p.Tyr2456Phe)
c.6619A>T
c.4399A>T
c.3663A>T (n.3663A>T)
c.2971A>T (n.2971A>T)
c.7568A>T (p.Tyr2523Phe)
Xg.41230590T>ACA412754730USP9Xc.7536T>A (p.Tyr2512Ter)
c.7584T>A (p.Tyr2528Ter)
c.3685-1797T>A (n.3685-1797T>A)
c.7521T>A (p.Tyr2507Ter)
c.7368T>A (p.Tyr2456Ter)
c.6620T>A
c.4400T>A
c.3664T>A (n.3664T>A)
c.2972T>A (n.2972T>A)
c.7569T>A (p.Tyr2523Ter)
Xg.41230590T>CCA515960864USP9Xc.7536T>C (p.Tyr2512=)
c.7584T>C (p.Tyr2528=)
c.3685-1797T>C (n.3685-1797T>C)
c.7521T>C (p.Tyr2507=)
c.7368T>C (p.Tyr2456=)
c.6620T>C
c.4400T>C
c.3664T>C (n.3664T>C)
c.2972T>C (n.2972T>C)
c.7569T>C (p.Tyr2523=)
Xg.41230590T>GCA412754731USP9Xc.7536T>G (p.Tyr2512Ter)
c.7584T>G (p.Tyr2528Ter)
c.3685-1797T>G (n.3685-1797T>G)
c.7521T>G (p.Tyr2507Ter)
c.7368T>G (p.Tyr2456Ter)
c.6620T>G
c.4400T>G
c.3664T>G (n.3664T>G)
c.2972T>G (n.2972T>G)
c.7569T>G (p.Tyr2523Ter)
Xg.41230591C>ACA412754734USP9Xc.7537C>A (p.Gln2513Lys)
c.7585C>A (p.Gln2529Lys)
c.3685-1796C>A (n.3685-1796C>A)
c.7522C>A (p.Gln2508Lys)
c.7369C>A (p.Gln2457Lys)
c.6621C>A
c.4401C>A
c.3665C>A (n.3665C>A)
c.2973C>A (n.2973C>A)
c.7570C>A (p.Gln2524Lys)
Xg.41230591C=CA2425838789USP9Xc.7537C= (p.Gln2513=)
c.7585C= (p.Gln2529=)
c.3685-1796C= (n.3685-1796C=)
c.7522C= (p.Gln2508=)
c.7369C= (p.Gln2457=)
c.6621C=
c.4401C=
c.3665C= (n.3665C=)
c.2973C= (n.2973C=)
c.7570C= (p.Gln2524=)
Xg.41230591C>GCA412754733USP9Xc.7537C>G (p.Gln2513Glu)
c.7585C>G (p.Gln2529Glu)
c.3685-1796C>G (n.3685-1796C>G)
c.7522C>G (p.Gln2508Glu)
c.7369C>G (p.Gln2457Glu)
c.6621C>G
c.4401C>G
c.3665C>G (n.3665C>G)
c.2973C>G (n.2973C>G)
c.7570C>G (p.Gln2524Glu)
Xg.41230591C>TCA412754732USP9Xc.7537C>T (p.Gln2513Ter)
c.7585C>T (p.Gln2529Ter)
c.3685-1796C>T (n.3685-1796C>T)
c.7522C>T (p.Gln2508Ter)
c.7369C>T (p.Gln2457Ter)
c.6621C>T
c.4401C>T
c.3665C>T (n.3665C>T)
c.2973C>T (n.2973C>T)
c.7570C>T (p.Gln2524Ter)
 ClinVar dbSNP
Xg.41230592A>CCA412754735USP9Xc.7538A>C (p.Gln2513Pro)
c.7586A>C (p.Gln2529Pro)
c.3685-1795A>C (n.3685-1795A>C)
c.7523A>C (p.Gln2508Pro)
c.7370A>C (p.Gln2457Pro)
c.6622A>C
c.4402A>C
c.3666A>C (n.3666A>C)
c.2974A>C (n.2974A>C)
c.7571A>C (p.Gln2524Pro)
Xg.41230592A>GCA412754737USP9Xc.7538A>G (p.Gln2513Arg)
c.7586A>G (p.Gln2529Arg)
c.3685-1795A>G (n.3685-1795A>G)
c.7523A>G (p.Gln2508Arg)
c.7370A>G (p.Gln2457Arg)
c.6622A>G
c.4402A>G
c.3666A>G (n.3666A>G)
c.2974A>G (n.2974A>G)
c.7571A>G (p.Gln2524Arg)
Xg.41230592A>TCA412754736USP9Xc.7538A>T (p.Gln2513Leu)
c.7586A>T (p.Gln2529Leu)
c.3685-1795A>T (n.3685-1795A>T)
c.7523A>T (p.Gln2508Leu)
c.7370A>T (p.Gln2457Leu)
c.6622A>T
c.4402A>T
c.3666A>T (n.3666A>T)
c.2974A>T (n.2974A>T)
c.7571A>T (p.Gln2524Leu)
Xg.41230593A=CA2425838790USP9Xc.7539A= (p.Gln2513=)
c.7587A= (p.Gln2529=)
c.3685-1794A= (n.3685-1794A=)
c.7524A= (p.Gln2508=)
c.7371A= (p.Gln2457=)
c.6623A=
c.4403A=
c.3667A= (n.3667A=)
c.2975A= (n.2975A=)
c.7572A= (p.Gln2524=)
Xg.41230593A>CCA412754738USP9Xc.7539A>C (p.Gln2513His)
c.7587A>C (p.Gln2529His)
c.3685-1794A>C (n.3685-1794A>C)
c.7524A>C (p.Gln2508His)
c.7371A>C (p.Gln2457His)
c.6623A>C
c.4403A>C
c.3667A>C (n.3667A>C)
c.2975A>C (n.2975A>C)
c.7572A>C (p.Gln2524His)
Xg.41230593A>GCA515960865USP9Xc.7539A>G (p.Gln2513=)
c.7587A>G (p.Gln2529=)
c.3685-1794A>G (n.3685-1794A>G)
c.7524A>G (p.Gln2508=)
c.7371A>G (p.Gln2457=)
c.6623A>G
c.4403A>G
c.3667A>G (n.3667A>G)
c.2975A>G (n.2975A>G)
c.7572A>G (p.Gln2524=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230593A>TCA412754739USP9Xc.7539A>T (p.Gln2513His)
c.7587A>T (p.Gln2529His)
c.3685-1794A>T (n.3685-1794A>T)
c.7524A>T (p.Gln2508His)
c.7371A>T (p.Gln2457His)
c.6623A>T
c.4403A>T
c.3667A>T (n.3667A>T)
c.2975A>T (n.2975A>T)
c.7572A>T (p.Gln2524His)
Xg.41230594C>ACA412754740USP9Xc.7540C>A (p.Gln2514Lys)
c.7588C>A (p.Gln2530Lys)
c.3685-1793C>A (n.3685-1793C>A)
c.7525C>A (p.Gln2509Lys)
c.7372C>A (p.Gln2458Lys)
c.6624C>A
c.4404C>A
c.3668C>A (n.3668C>A)
c.2976C>A (n.2976C>A)
c.7573C>A (p.Gln2525Lys)
Xg.41230594C>GCA412754741USP9Xc.7540C>G (p.Gln2514Glu)
c.7588C>G (p.Gln2530Glu)
c.3685-1793C>G (n.3685-1793C>G)
c.7525C>G (p.Gln2509Glu)
c.7372C>G (p.Gln2458Glu)
c.6624C>G
c.4404C>G
c.3668C>G (n.3668C>G)
c.2976C>G (n.2976C>G)
c.7573C>G (p.Gln2525Glu)
Xg.41230594C>TCA412754742USP9Xc.7540C>T (p.Gln2514Ter)
c.7588C>T (p.Gln2530Ter)
c.3685-1793C>T (n.3685-1793C>T)
c.7525C>T (p.Gln2509Ter)
c.7372C>T (p.Gln2458Ter)
c.6624C>T
c.4404C>T
c.3668C>T (n.3668C>T)
c.2976C>T (n.2976C>T)
c.7573C>T (p.Gln2525Ter)
Xg.41230594_41230595delinsCACA2425838791USP9Xc.7540_7541delinsCA (p.Gln2514=)
c.7588_7589delinsCA (p.Gln2530=)
c.3685-1793_3685-1792delinsCA (n.3685-1793_3685-1792delinsCA)
c.7525_7526delinsCA (p.Gln2509=)
c.7372_7373delinsCA (p.Gln2458=)
c.6624_6625delinsCA
c.4404_4405delinsCA
c.3668_3669delinsCA (n.3668_3669delinsCA)
c.2976_2977delinsCA (n.2976_2977delinsCA)
c.7573_7574delinsCA (p.Gln2525=)
Xg.41230595delCA151370USP9Xc.7541del (p.Gln2514ArgfsTer18)
c.7589del (p.Gln2530ArgfsTer18)
c.3685-1792del (n.3685-1792del)
c.7526del (p.Gln2509ArgfsTer18)
c.7373del (p.Gln2458ArgfsTer18)
c.6625del
c.4405del
c.3669del (n.3669del)
c.2977del (n.2977del)
c.7574del (p.Gln2525ArgfsTer18)
 ClinVar dbSNP
Xg.41230595A>CCA412754743USP9Xc.7541A>C (p.Gln2514Pro)
c.7589A>C (p.Gln2530Pro)
c.3685-1792A>C (n.3685-1792A>C)
c.7526A>C (p.Gln2509Pro)
c.7373A>C (p.Gln2458Pro)
c.6625A>C
c.4405A>C
c.3669A>C (n.3669A>C)
c.2977A>C (n.2977A>C)
c.7574A>C (p.Gln2525Pro)
Xg.41230595A>GCA412754744USP9Xc.7541A>G (p.Gln2514Arg)
c.7589A>G (p.Gln2530Arg)
c.3685-1792A>G (n.3685-1792A>G)
c.7526A>G (p.Gln2509Arg)
c.7373A>G (p.Gln2458Arg)
c.6625A>G
c.4405A>G
c.3669A>G (n.3669A>G)
c.2977A>G (n.2977A>G)
c.7574A>G (p.Gln2525Arg)
Xg.41230595A>TCA412754745USP9Xc.7541A>T (p.Gln2514Leu)
c.7589A>T (p.Gln2530Leu)
c.3685-1792A>T (n.3685-1792A>T)
c.7526A>T (p.Gln2509Leu)
c.7373A>T (p.Gln2458Leu)
c.6625A>T
c.4405A>T
c.3669A>T (n.3669A>T)
c.2977A>T (n.2977A>T)
c.7574A>T (p.Gln2525Leu)
Xg.41230596G>ACA515960867USP9Xc.7542G>A (p.Gln2514=)
c.7590G>A (p.Gln2530=)
c.3685-1791G>A (n.3685-1791G>A)
c.7527G>A (p.Gln2509=)
c.7374G>A (p.Gln2458=)
c.6626G>A
c.4406G>A
c.3670G>A (n.3670G>A)
c.2978G>A (n.2978G>A)
c.7575G>A (p.Gln2525=)
Xg.41230596G>CCA412754746USP9Xc.7542G>C (p.Gln2514His)
c.7590G>C (p.Gln2530His)
c.3685-1791G>C (n.3685-1791G>C)
c.7527G>C (p.Gln2509His)
c.7374G>C (p.Gln2458His)
c.6626G>C
c.4406G>C
c.3670G>C (n.3670G>C)
c.2978G>C (n.2978G>C)
c.7575G>C (p.Gln2525His)
Xg.41230596G>TCA412754747USP9Xc.7542G>T (p.Gln2514His)
c.7590G>T (p.Gln2530His)
c.3685-1791G>T (n.3685-1791G>T)
c.7527G>T (p.Gln2509His)
c.7374G>T (p.Gln2458His)
c.6626G>T
c.4406G>T
c.3670G>T (n.3670G>T)
c.2978G>T (n.2978G>T)
c.7575G>T (p.Gln2525His)
Xg.41230597G>ACA412754750USP9Xc.7542+1G>A (n.7542+1G>A)
c.7590+1G>A (n.7590+1G>A)
c.3685-1790G>A (n.3685-1790G>A)
c.7527+1G>A (n.7527+1G>A)
c.7374+1G>A (n.7374+1G>A)
c.6626+1G>A
c.4406+1G>A
c.3670+1G>A (n.3670+1G>A)
c.2978+1G>A (n.2978+1G>A)
c.7575+1G>A (n.7575+1G>A)
Xg.41230597G>CCA412754749USP9Xc.7542+1G>C (n.7542+1G>C)
c.7590+1G>C (n.7590+1G>C)
c.3685-1790G>C (n.3685-1790G>C)
c.7527+1G>C (n.7527+1G>C)
c.7374+1G>C (n.7374+1G>C)
c.6626+1G>C
c.4406+1G>C
c.3670+1G>C (n.3670+1G>C)
c.2978+1G>C (n.2978+1G>C)
c.7575+1G>C (n.7575+1G>C)
Xg.41230597G>TCA412754748USP9Xc.7542+1G>T (n.7542+1G>T)
c.7590+1G>T (n.7590+1G>T)
c.3685-1790G>T (n.3685-1790G>T)
c.7527+1G>T (n.7527+1G>T)
c.7374+1G>T (n.7374+1G>T)
c.6626+1G>T
c.4406+1G>T
c.3670+1G>T (n.3670+1G>T)
c.2978+1G>T (n.2978+1G>T)
c.7575+1G>T (n.7575+1G>T)
Xg.41230598T>ACA412754751USP9Xc.7542+2T>A (n.7542+2T>A)
c.7590+2T>A (n.7590+2T>A)
c.3685-1789T>A (n.3685-1789T>A)
c.7527+2T>A (n.7527+2T>A)
c.7374+2T>A (n.7374+2T>A)
c.6626+2T>A
c.4406+2T>A
c.3670+2T>A (n.3670+2T>A)
c.2978+2T>A (n.2978+2T>A)
c.7575+2T>A (n.7575+2T>A)
Xg.41230598T>CCA412754752USP9Xc.7542+2T>C (n.7542+2T>C)
c.7590+2T>C (n.7590+2T>C)
c.3685-1789T>C (n.3685-1789T>C)
c.7527+2T>C (n.7527+2T>C)
c.7374+2T>C (n.7374+2T>C)
c.6626+2T>C
c.4406+2T>C
c.3670+2T>C (n.3670+2T>C)
c.2978+2T>C (n.2978+2T>C)
c.7575+2T>C (n.7575+2T>C)
Xg.41230598T>GCA412754753USP9Xc.7542+2T>G (n.7542+2T>G)
c.7590+2T>G (n.7590+2T>G)
c.3685-1789T>G (n.3685-1789T>G)
c.7527+2T>G (n.7527+2T>G)
c.7374+2T>G (n.7374+2T>G)
c.6626+2T>G
c.4406+2T>G
c.3670+2T>G (n.3670+2T>G)
c.2978+2T>G (n.2978+2T>G)
c.7575+2T>G (n.7575+2T>G)
Xg.41230599A=CA2425838792USP9Xc.7542+3A= (n.7542+3A=)
c.7590+3A= (n.7590+3A=)
c.3685-1788A= (n.3685-1788A=)
c.7527+3A= (n.7527+3A=)
c.7374+3A= (n.7374+3A=)
c.6626+3A=
c.4406+3A=
c.3670+3A= (n.3670+3A=)
c.2978+3A= (n.2978+3A=)
c.7575+3A= (n.7575+3A=)
Xg.41230599A>TCA2425838793USP9Xc.7542+3A>T (n.7542+3A>T)
c.7590+3A>T (n.7590+3A>T)
c.3685-1788A>T (n.3685-1788A>T)
c.7527+3A>T (n.7527+3A>T)
c.7374+3A>T (n.7374+3A>T)
c.6626+3A>T
c.4406+3A>T
c.3670+3A>T (n.3670+3A>T)
c.2978+3A>T (n.2978+3A>T)
c.7575+3A>T (n.7575+3A>T)
 dbSNP
Xg.41230602C=CA2425838794USP9Xc.7542+6C= (n.7542+6C=)
c.7590+6C= (n.7590+6C=)
c.3685-1785C= (n.3685-1785C=)
c.7527+6C= (n.7527+6C=)
c.7374+6C= (n.7374+6C=)
c.6626+6C=
c.4406+6C=
c.3670+6C= (n.3670+6C=)
c.2978+6C= (n.2978+6C=)
c.7575+6C= (n.7575+6C=)
Xg.41230602C>TCA875373850USP9Xc.7542+6C>T (n.7542+6C>T)
c.7590+6C>T (n.7590+6C>T)
c.3685-1785C>T (n.3685-1785C>T)
c.7527+6C>T (n.7527+6C>T)
c.7374+6C>T (n.7374+6C>T)
c.6626+6C>T
c.4406+6C>T
c.3670+6C>T (n.3670+6C>T)
c.2978+6C>T (n.2978+6C>T)
c.7575+6C>T (n.7575+6C>T)
 dbSNP gnomAD v3 gnomAD v4
Xg.41230603A=CA2425838795USP9Xc.7542+7A= (n.7542+7A=)
c.7590+7A= (n.7590+7A=)
c.3685-1784A= (n.3685-1784A=)
c.7527+7A= (n.7527+7A=)
c.7374+7A= (n.7374+7A=)
c.6626+7A=
c.4406+7A=
c.3670+7A= (n.3670+7A=)
c.2978+7A= (n.2978+7A=)
c.7575+7A= (n.7575+7A=)
Xg.41230603A>GCA1132546927USP9Xc.7542+7A>G (n.7542+7A>G)
c.7590+7A>G (n.7590+7A>G)
c.3685-1784A>G (n.3685-1784A>G)
c.7527+7A>G (n.7527+7A>G)
c.7374+7A>G (n.7374+7A>G)
c.6626+7A>G
c.4406+7A>G
c.3670+7A>G (n.3670+7A>G)
c.2978+7A>G (n.2978+7A>G)
c.7575+7A>G (n.7575+7A>G)
 dbSNP gnomAD v3 gnomAD v4
Xg.41230604G>ACA2425838797USP9Xc.7542+8G>A (n.7542+8G>A)
c.7590+8G>A (n.7590+8G>A)
c.3685-1783G>A (n.3685-1783G>A)
c.7527+8G>A (n.7527+8G>A)
c.7374+8G>A (n.7374+8G>A)
c.6626+8G>A
c.4406+8G>A
c.3670+8G>A (n.3670+8G>A)
c.2978+8G>A (n.2978+8G>A)
c.7575+8G>A (n.7575+8G>A)
 dbSNP
Xg.41230604G=CA2425838796USP9Xc.7542+8G= (n.7542+8G=)
c.7590+8G= (n.7590+8G=)
c.3685-1783G= (n.3685-1783G=)
c.7527+8G= (n.7527+8G=)
c.7374+8G= (n.7374+8G=)
c.6626+8G=
c.4406+8G=
c.3670+8G= (n.3670+8G=)
c.2978+8G= (n.2978+8G=)
c.7575+8G= (n.7575+8G=)
Xg.41230606dupCA2820576847USP9Xc.7542+10dup (n.7542+10dup)
c.7590+10dup (n.7590+10dup)
c.3685-1781dup (n.3685-1781dup)
c.7527+10dup (n.7527+10dup)
c.7374+10dup (n.7374+10dup)
c.6626+10dup
c.4406+10dup
c.3670+10dup (n.3670+10dup)
c.2978+10dup (n.2978+10dup)
c.7575+10dup (n.7575+10dup)
Xg.41230607G>TCA2579588237USP9Xc.7542+11G>T (n.7542+11G>T)
c.7590+11G>T (n.7590+11G>T)
c.3685-1780G>T (n.3685-1780G>T)
c.7527+11G>T (n.7527+11G>T)
c.7374+11G>T (n.7374+11G>T)
c.6626+11G>T
c.4406+11G>T
c.3670+11G>T (n.3670+11G>T)
c.2978+11G>T (n.2978+11G>T)
c.7575+11G>T (n.7575+11G>T)
Xg.41230609C>ACA2579588238USP9Xc.7542+13C>A (n.7542+13C>A)
c.7590+13C>A (n.7590+13C>A)
c.3685-1778C>A (n.3685-1778C>A)
c.7527+13C>A (n.7527+13C>A)
c.7374+13C>A (n.7374+13C>A)
c.6626+13C>A
c.4406+13C>A
c.3670+13C>A (n.3670+13C>A)
c.2978+13C>A (n.2978+13C>A)
c.7575+13C>A (n.7575+13C>A)
 gnomAD v4
Xg.41230611_41230612delinsGTCA2425838798USP9Xc.7542+15_7542+16delinsGT (n.7542+15_7542+16delinsGT)
c.7590+15_7590+16delinsGT (n.7590+15_7590+16delinsGT)
c.3685-1776_3685-1775delinsGT (n.3685-1776_3685-1775delinsGT)
c.7527+15_7527+16delinsGT (n.7527+15_7527+16delinsGT)
c.7374+15_7374+16delinsGT (n.7374+15_7374+16delinsGT)
c.6626+15_6626+16delinsGT
c.4406+15_4406+16delinsGT
c.3670+15_3670+16delinsGT (n.3670+15_3670+16delinsGT)
c.2978+15_2978+16delinsGT (n.2978+15_2978+16delinsGT)
c.7575+15_7575+16delinsGT (n.7575+15_7575+16delinsGT)
Xg.41230614delCA875373855USP9Xc.7542+18del (n.7542+18del)
c.7590+18del (n.7590+18del)
c.3685-1773del (n.3685-1773del)
c.7527+18del (n.7527+18del)
c.7374+18del (n.7374+18del)
c.6626+18del
c.4406+18del
c.3670+18del (n.3670+18del)
c.2978+18del (n.2978+18del)
c.7575+18del (n.7575+18del)
 dbSNP gnomAD v3 gnomAD v4
Xg.41230614T>CCA641464224USP9Xc.7542+18T>C (n.7542+18T>C)
c.7590+18T>C (n.7590+18T>C)
c.3685-1773T>C (n.3685-1773T>C)
c.7527+18T>C (n.7527+18T>C)
c.7374+18T>C (n.7374+18T>C)
c.6626+18T>C
c.4406+18T>C
c.3670+18T>C (n.3670+18T>C)
c.2978+18T>C (n.2978+18T>C)
c.7575+18T>C (n.7575+18T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230614T>GCA2693481540USP9Xc.7542+18T>G (n.7542+18T>G)
c.7590+18T>G (n.7590+18T>G)
c.3685-1773T>G (n.3685-1773T>G)
c.7527+18T>G (n.7527+18T>G)
c.7374+18T>G (n.7374+18T>G)
c.6626+18T>G
c.4406+18T>G
c.3670+18T>G (n.3670+18T>G)
c.2978+18T>G (n.2978+18T>G)
c.7575+18T>G (n.7575+18T>G)
 gnomAD v4
Xg.41230614T=CA2425838799USP9Xc.7542+18T= (n.7542+18T=)
c.7590+18T= (n.7590+18T=)
c.3685-1773T= (n.3685-1773T=)
c.7527+18T= (n.7527+18T=)
c.7374+18T= (n.7374+18T=)
c.6626+18T=
c.4406+18T=
c.3670+18T= (n.3670+18T=)
c.2978+18T= (n.2978+18T=)
c.7575+18T= (n.7575+18T=)
Xg.41230616T>GCA2693481543USP9Xc.7542+20T>G (n.7542+20T>G)
c.7590+20T>G (n.7590+20T>G)
c.3685-1771T>G (n.3685-1771T>G)
c.7527+20T>G (n.7527+20T>G)
c.7374+20T>G (n.7374+20T>G)
c.6626+20T>G
c.4406+20T>G
c.3670+20T>G (n.3670+20T>G)
c.2978+20T>G (n.2978+20T>G)
c.7575+20T>G (n.7575+20T>G)
 gnomAD v4
Xg.41230617G>ACA2693481545USP9Xc.7542+21G>A (n.7542+21G>A)
c.7590+21G>A (n.7590+21G>A)
c.3685-1770G>A (n.3685-1770G>A)
c.7527+21G>A (n.7527+21G>A)
c.7374+21G>A (n.7374+21G>A)
c.6626+21G>A
c.4406+21G>A
c.3670+21G>A (n.3670+21G>A)
c.2978+21G>A (n.2978+21G>A)
c.7575+21G>A (n.7575+21G>A)
 gnomAD v4
Xg.41230618C>ACA2693481546USP9Xc.7542+22C>A (n.7542+22C>A)
c.7590+22C>A (n.7590+22C>A)
c.3685-1769C>A (n.3685-1769C>A)
c.7527+22C>A (n.7527+22C>A)
c.7374+22C>A (n.7374+22C>A)
c.6626+22C>A
c.4406+22C>A
c.3670+22C>A (n.3670+22C>A)
c.2978+22C>A (n.2978+22C>A)
c.7575+22C>A (n.7575+22C>A)
 gnomAD v4
Xg.41230618C=CA2425838800USP9Xc.7542+22C= (n.7542+22C=)
c.7590+22C= (n.7590+22C=)
c.3685-1769C= (n.3685-1769C=)
c.7527+22C= (n.7527+22C=)
c.7374+22C= (n.7374+22C=)
c.6626+22C=
c.4406+22C=
c.3670+22C= (n.3670+22C=)
c.2978+22C= (n.2978+22C=)
c.7575+22C= (n.7575+22C=)
Xg.41230618C>TCA641464225USP9Xc.7542+22C>T (n.7542+22C>T)
c.7590+22C>T (n.7590+22C>T)
c.3685-1769C>T (n.3685-1769C>T)
c.7527+22C>T (n.7527+22C>T)
c.7374+22C>T (n.7374+22C>T)
c.6626+22C>T
c.4406+22C>T
c.3670+22C>T (n.3670+22C>T)
c.2978+22C>T (n.2978+22C>T)
c.7575+22C>T (n.7575+22C>T)
 dbSNP gnomAD v2 gnomAD v4
Xg.41230619T>ACA10389238USP9Xc.7542+23T>A (n.7542+23T>A)
c.7590+23T>A (n.7590+23T>A)
c.3685-1768T>A (n.3685-1768T>A)
c.7527+23T>A (n.7527+23T>A)
c.7374+23T>A (n.7374+23T>A)
c.6626+23T>A
c.4406+23T>A
c.3670+23T>A (n.3670+23T>A)
c.2978+23T>A (n.2978+23T>A)
c.7575+23T>A (n.7575+23T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.41230619T=CA2425838801USP9Xc.7542+23T= (n.7542+23T=)
c.7590+23T= (n.7590+23T=)
c.3685-1768T= (n.3685-1768T=)
c.7527+23T= (n.7527+23T=)
c.7374+23T= (n.7374+23T=)
c.6626+23T=
c.4406+23T=
c.3670+23T= (n.3670+23T=)
c.2978+23T= (n.2978+23T=)
c.7575+23T= (n.7575+23T=)
Xg.41230623A>GCA2579588239USP9Xc.7542+27A>G (n.7542+27A>G)
c.7590+27A>G (n.7590+27A>G)
c.3685-1764A>G (n.3685-1764A>G)
c.7527+27A>G (n.7527+27A>G)
c.7374+27A>G (n.7374+27A>G)
c.6626+27A>G
c.4406+27A>G
c.3670+27A>G (n.3670+27A>G)
c.2978+27A>G (n.2978+27A>G)
c.7575+27A>G (n.7575+27A>G)
Xg.41230623_41230624delinsATCA2425838802USP9Xc.7542+27_7542+28delinsAT (n.7542+27_7542+28delinsAT)
c.7590+27_7590+28delinsAT (n.7590+27_7590+28delinsAT)
c.3685-1764_3685-1763delinsAT (n.3685-1764_3685-1763delinsAT)
c.7527+27_7527+28delinsAT (n.7527+27_7527+28delinsAT)
c.7374+27_7374+28delinsAT (n.7374+27_7374+28delinsAT)
c.6626+27_6626+28delinsAT
c.4406+27_4406+28delinsAT
c.3670+27_3670+28delinsAT (n.3670+27_3670+28delinsAT)
c.2978+27_2978+28delinsAT (n.2978+27_2978+28delinsAT)
c.7575+27_7575+28delinsAT (n.7575+27_7575+28delinsAT)
Xg.41230624delCA875373860USP9Xc.7542+28del (n.7542+28del)
c.7590+28del (n.7590+28del)
c.3685-1763del (n.3685-1763del)
c.7527+28del (n.7527+28del)
c.7374+28del (n.7374+28del)
c.6626+28del
c.4406+28del
c.3670+28del (n.3670+28del)
c.2978+28del (n.2978+28del)
c.7575+28del (n.7575+28del)
 dbSNP
Xg.41230624T=CA2425838803USP9Xc.7542+28T= (n.7542+28T=)
c.7590+28T= (n.7590+28T=)
c.3685-1763T= (n.3685-1763T=)
c.7527+28T= (n.7527+28T=)
c.7374+28T= (n.7374+28T=)
c.6626+28T=
c.4406+28T=
c.3670+28T= (n.3670+28T=)
c.2978+28T= (n.2978+28T=)
c.7575+28T= (n.7575+28T=)
Xg.41230625C>ACA2693481553USP9Xc.7542+29C>A (n.7542+29C>A)
c.7590+29C>A (n.7590+29C>A)
c.3685-1762C>A (n.3685-1762C>A)
c.7527+29C>A (n.7527+29C>A)
c.7374+29C>A (n.7374+29C>A)
c.6626+29C>A
c.4406+29C>A
c.3670+29C>A (n.3670+29C>A)
c.2978+29C>A (n.2978+29C>A)
c.7575+29C>A (n.7575+29C>A)
 gnomAD v4
Xg.41230625C>GCA2693481554USP9Xc.7542+29C>G (n.7542+29C>G)
c.7590+29C>G (n.7590+29C>G)
c.3685-1762C>G (n.3685-1762C>G)
c.7527+29C>G (n.7527+29C>G)
c.7374+29C>G (n.7374+29C>G)
c.6626+29C>G
c.4406+29C>G
c.3670+29C>G (n.3670+29C>G)
c.2978+29C>G (n.2978+29C>G)
c.7575+29C>G (n.7575+29C>G)
 gnomAD v4
Xg.41230628dupCA10389240USP9Xc.7542+32dup (n.7542+32dup)
c.7590+32dup (n.7590+32dup)
c.3685-1759dup (n.3685-1759dup)
c.7527+32dup (n.7527+32dup)
c.7374+32dup (n.7374+32dup)
c.6626+32dup
c.4406+32dup
c.3670+32dup (n.3670+32dup)
c.2978+32dup (n.2978+32dup)
c.7575+32dup (n.7575+32dup)
 dbSNP ExAC gnomAD v2
Xg.41230627_41230628dupCA10389239USP9Xc.7542+31_7542+32dup (n.7542+31_7542+32dup)
c.7590+31_7590+32dup (n.7590+31_7590+32dup)
c.3685-1760_3685-1759dup (n.3685-1760_3685-1759dup)
c.7527+31_7527+32dup (n.7527+31_7527+32dup)
c.7374+31_7374+32dup (n.7374+31_7374+32dup)
c.6626+31_6626+32dup
c.4406+31_4406+32dup
c.3670+31_3670+32dup (n.3670+31_3670+32dup)
c.2978+31_2978+32dup (n.2978+31_2978+32dup)
c.7575+31_7575+32dup (n.7575+31_7575+32dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.41230627C>ACA2579588240USP9Xc.7542+31C>A (n.7542+31C>A)
c.7590+31C>A (n.7590+31C>A)
c.3685-1760C>A (n.3685-1760C>A)
c.7527+31C>A (n.7527+31C>A)
c.7374+31C>A (n.7374+31C>A)
c.6626+31C>A
c.4406+31C>A
c.3670+31C>A (n.3670+31C>A)
c.2978+31C>A (n.2978+31C>A)
c.7575+31C>A (n.7575+31C>A)
Xg.41230628C>ACA2579588241USP9Xc.7542+32C>A (n.7542+32C>A)
c.7590+32C>A (n.7590+32C>A)
c.3685-1759C>A (n.3685-1759C>A)
c.7527+32C>A (n.7527+32C>A)
c.7374+32C>A (n.7374+32C>A)
c.6626+32C>A
c.4406+32C>A
c.3670+32C>A (n.3670+32C>A)
c.2978+32C>A (n.2978+32C>A)
c.7575+32C>A (n.7575+32C>A)
 gnomAD v4
Xg.41230628C>GCA2693481555USP9Xc.7542+32C>G (n.7542+32C>G)
c.7590+32C>G (n.7590+32C>G)
c.3685-1759C>G (n.3685-1759C>G)
c.7527+32C>G (n.7527+32C>G)
c.7374+32C>G (n.7374+32C>G)
c.6626+32C>G
c.4406+32C>G
c.3670+32C>G (n.3670+32C>G)
c.2978+32C>G (n.2978+32C>G)
c.7575+32C>G (n.7575+32C>G)
 gnomAD v4

Number of alleles fetched