Chr Mutation (hg38) CAid Gene Transcript Linkouts
21g.32657044C>ACA410074314SYNJ1c.2655G>T (p.Leu885Phe)
c.2523G>T (p.Leu841Phe)
c.2538G>T (p.Leu846Phe)
n.325G>T
c.2640G>T (p.Leu880Phe)
21g.32657044C>GCA410074316SYNJ1c.2655G>C (p.Leu885Phe)
c.2523G>C (p.Leu841Phe)
c.2538G>C (p.Leu846Phe)
n.325G>C
c.2640G>C (p.Leu880Phe)
21g.32657044C>TCA512332233SYNJ1c.2655G>A (p.Leu885=)
c.2523G>A (p.Leu841=)
c.2538G>A (p.Leu846=)
n.325G>A
c.2640G>A (p.Leu880=)
21g.32657045A>CCA410074319SYNJ1c.2654T>G (p.Leu885Trp)
c.2522T>G (p.Leu841Trp)
c.2537T>G (p.Leu846Trp)
n.324T>G
c.2639T>G (p.Leu880Trp)
21g.32657045A>GCA410074320SYNJ1c.2654T>C (p.Leu885Ser)
c.2522T>C (p.Leu841Ser)
c.2537T>C (p.Leu846Ser)
n.324T>C
c.2639T>C (p.Leu880Ser)
21g.32657045A>TCA410074321SYNJ1c.2654T>A (p.Leu885Ter)
c.2522T>A (p.Leu841Ter)
c.2537T>A (p.Leu846Ter)
n.324T>A
c.2639T>A (p.Leu880Ter)
21g.32657047dupCA645606521SYNJ1c.2654dup (p.Leu885PhefsTer8)
c.2522dup (p.Leu841PhefsTer8)
c.2537dup (p.Leu846PhefsTer8)
n.324dup
c.2639dup (p.Leu880PhefsTer8)
 COSMIC COSMIC
21g.32657046A>CCA410074322SYNJ1c.2653T>G (p.Leu885Val)
c.2521T>G (p.Leu841Val)
c.2536T>G (p.Leu846Val)
n.323T>G
c.2638T>G (p.Leu880Val)
21g.32657046A>GCA512332234SYNJ1c.2653T>C (p.Leu885=)
c.2521T>C (p.Leu841=)
c.2536T>C (p.Leu846=)
n.323T>C
c.2638T>C (p.Leu880=)
21g.32657046A>TCA410074323SYNJ1c.2653T>A (p.Leu885Met)
c.2521T>A (p.Leu841Met)
c.2536T>A (p.Leu846Met)
n.323T>A
c.2638T>A (p.Leu880Met)
21g.32657047A=CA2386325211SYNJ1c.2652T= (p.Thr884=)
c.2520T= (p.Thr840=)
c.2535T= (p.Thr845=)
n.322T=
c.2637T= (p.Thr879=)
21g.32657047A>CCA512332235SYNJ1c.2652T>G (p.Thr884=)
c.2520T>G (p.Thr840=)
c.2535T>G (p.Thr845=)
n.322T>G
c.2637T>G (p.Thr879=)
 dbSNP gnomAD v4
21g.32657047A>GCA512332236SYNJ1c.2652T>C (p.Thr884=)
c.2520T>C (p.Thr840=)
c.2535T>C (p.Thr845=)
n.322T>C
c.2637T>C (p.Thr879=)
21g.32657047A>TCA512332237SYNJ1c.2652T>A (p.Thr884=)
c.2520T>A (p.Thr840=)
c.2535T>A (p.Thr845=)
n.322T>A
c.2637T>A (p.Thr879=)
21g.32657048G>ACA410074326SYNJ1c.2651C>T (p.Thr884Ile)
c.2519C>T (p.Thr840Ile)
c.2534C>T (p.Thr845Ile)
n.321C>T
c.2636C>T (p.Thr879Ile)
21g.32657048G>CCA410074328SYNJ1c.2651C>G (p.Thr884Ser)
c.2519C>G (p.Thr840Ser)
c.2534C>G (p.Thr845Ser)
n.321C>G
c.2636C>G (p.Thr879Ser)
21g.32657048G>TCA410074330SYNJ1c.2651C>A (p.Thr884Asn)
c.2519C>A (p.Thr840Asn)
c.2534C>A (p.Thr845Asn)
n.321C>A
c.2636C>A (p.Thr879Asn)
21g.32657049T>ACA410074338SYNJ1c.2650A>T (p.Thr884Ser)
c.2518A>T (p.Thr840Ser)
c.2533A>T (p.Thr845Ser)
n.320A>T
c.2635A>T (p.Thr879Ser)
21g.32657049T>CCA410074336SYNJ1c.2650A>G (p.Thr884Ala)
c.2518A>G (p.Thr840Ala)
c.2533A>G (p.Thr845Ala)
n.320A>G
c.2635A>G (p.Thr879Ala)
 dbSNP
21g.32657049T>GCA410074334SYNJ1c.2650A>C (p.Thr884Pro)
c.2518A>C (p.Thr840Pro)
c.2533A>C (p.Thr845Pro)
n.320A>C
c.2635A>C (p.Thr879Pro)
21g.32657049T=CA2386325212SYNJ1c.2650A= (p.Thr884=)
c.2518A= (p.Thr840=)
c.2533A= (p.Thr845=)
n.320A=
c.2635A= (p.Thr879=)
21g.32657050G>ACA512332239SYNJ1c.2649C>T (p.Gly883=)
c.2517C>T (p.Gly839=)
c.2532C>T (p.Gly844=)
n.319C>T
c.2634C>T (p.Gly878=)
 dbSNP gnomAD v4
21g.32657050G>CCA512332240SYNJ1c.2649C>G (p.Gly883=)
c.2517C>G (p.Gly839=)
c.2532C>G (p.Gly844=)
n.319C>G
c.2634C>G (p.Gly878=)
21g.32657050G=CA2386325213SYNJ1c.2649C= (p.Gly883=)
c.2517C= (p.Gly839=)
c.2532C= (p.Gly844=)
n.319C=
c.2634C= (p.Gly878=)
21g.32657050G>TCA512332238SYNJ1c.2649C>A (p.Gly883=)
c.2517C>A (p.Gly839=)
c.2532C>A (p.Gly844=)
n.319C>A
c.2634C>A (p.Gly878=)
21g.32657051C>ACA410074341SYNJ1c.2648G>T (p.Gly883Val)
c.2516G>T (p.Gly839Val)
c.2531G>T (p.Gly844Val)
n.318G>T
c.2633G>T (p.Gly878Val)
21g.32657051C=CA2386325214SYNJ1c.2648G= (p.Gly883=)
c.2516G= (p.Gly839=)
c.2531G= (p.Gly844=)
n.318G=
c.2633G= (p.Gly878=)
21g.32657051C>GCA410074344SYNJ1c.2648G>C (p.Gly883Ala)
c.2516G>C (p.Gly839Ala)
c.2531G>C (p.Gly844Ala)
n.318G>C
c.2633G>C (p.Gly878Ala)
 dbSNP gnomAD v2
21g.32657051C>TCA410074346SYNJ1c.2648G>A (p.Gly883Asp)
c.2516G>A (p.Gly839Asp)
c.2531G>A (p.Gly844Asp)
n.318G>A
c.2633G>A (p.Gly878Asp)
21g.32657052C>ACA410074349SYNJ1c.2647G>T (p.Gly883Cys)
c.2515G>T (p.Gly839Cys)
c.2530G>T (p.Gly844Cys)
n.317G>T
c.2632G>T (p.Gly878Cys)
 COSMIC COSMIC
21g.32657052C>GCA410074351SYNJ1c.2647G>C (p.Gly883Arg)
c.2515G>C (p.Gly839Arg)
c.2530G>C (p.Gly844Arg)
n.317G>C
c.2632G>C (p.Gly878Arg)
21g.32657052C>TCA410074353SYNJ1c.2647G>A (p.Gly883Ser)
c.2515G>A (p.Gly839Ser)
c.2530G>A (p.Gly844Ser)
n.317G>A
c.2632G>A (p.Gly878Ser)
21g.32657053T>ACA512332244SYNJ1c.2646A>T (p.Pro882=)
c.2514A>T (p.Pro838=)
c.2529A>T (p.Pro843=)
n.316A>T
c.2631A>T (p.Pro877=)
21g.32657053T>CCA512332245SYNJ1c.2646A>G (p.Pro882=)
c.2514A>G (p.Pro838=)
c.2529A>G (p.Pro843=)
n.316A>G
c.2631A>G (p.Pro877=)
 dbSNP COSMIC COSMIC
21g.32657053T>GCA512332246SYNJ1c.2646A>C (p.Pro882=)
c.2514A>C (p.Pro838=)
c.2529A>C (p.Pro843=)
n.316A>C
c.2631A>C (p.Pro877=)
 ClinVar dbSNP
21g.32657053T=CA2386325215SYNJ1c.2646A= (p.Pro882=)
c.2514A= (p.Pro838=)
c.2529A= (p.Pro843=)
n.316A=
c.2631A= (p.Pro877=)
21g.32657053_32657054delinsTGCA2386325216SYNJ1c.2645_2646delinsCA (p.Pro882=)
c.2513_2514delinsCA (p.Pro838=)
c.2528_2529delinsCA (p.Pro843=)
n.315_316delinsCA
c.2630_2631delinsCA (p.Pro877=)
21g.32657054G>ACA410074356SYNJ1c.2645C>T (p.Pro882Leu)
c.2513C>T (p.Pro838Leu)
c.2528C>T (p.Pro843Leu)
n.315C>T
c.2630C>T (p.Pro877Leu)
21g.32657054G>CCA410074358SYNJ1c.2645C>G (p.Pro882Arg)
c.2513C>G (p.Pro838Arg)
c.2528C>G (p.Pro843Arg)
n.315C>G
c.2630C>G (p.Pro877Arg)
21g.32657054G>TCA410074360SYNJ1c.2645C>A (p.Pro882Gln)
c.2513C>A (p.Pro838Gln)
c.2528C>A (p.Pro843Gln)
n.315C>A
c.2630C>A (p.Pro877Gln)
21g.32657055delCA748730226SYNJ1c.2645del (p.Pro882GlnfsTer12)
c.2513del (p.Pro838GlnfsTer12)
c.2528del (p.Pro843GlnfsTer12)
n.315del
c.2630del (p.Pro877GlnfsTer12)
 dbSNP
21g.32657055G>ACA410074363SYNJ1c.2644C>T (p.Pro882Ser)
c.2512C>T (p.Pro838Ser)
c.2527C>T (p.Pro843Ser)
n.314C>T
c.2629C>T (p.Pro877Ser)
21g.32657055G>CCA410074365SYNJ1c.2644C>G (p.Pro882Ala)
c.2512C>G (p.Pro838Ala)
c.2527C>G (p.Pro843Ala)
n.314C>G
c.2629C>G (p.Pro877Ala)
 ClinVar dbSNP
21g.32657055G=CA2386325217SYNJ1c.2644C= (p.Pro882=)
c.2512C= (p.Pro838=)
c.2527C= (p.Pro843=)
n.314C=
c.2629C= (p.Pro877=)
21g.32657055G>TCA410074367SYNJ1c.2644C>A (p.Pro882Thr)
c.2512C>A (p.Pro838Thr)
c.2527C>A (p.Pro843Thr)
n.314C>A
c.2629C>A (p.Pro877Thr)
21g.32657056A>CCA512332250SYNJ1c.2643T>G (p.Thr881=)
c.2511T>G (p.Thr837=)
c.2526T>G (p.Thr842=)
n.313T>G
c.2628T>G (p.Thr876=)
21g.32657056A>GCA512332251SYNJ1c.2643T>C (p.Thr881=)
c.2511T>C (p.Thr837=)
c.2526T>C (p.Thr842=)
n.313T>C
c.2628T>C (p.Thr876=)
 gnomAD v4
21g.32657056A>TCA512332252SYNJ1c.2643T>A (p.Thr881=)
c.2511T>A (p.Thr837=)
c.2526T>A (p.Thr842=)
n.313T>A
c.2628T>A (p.Thr876=)
21g.32657057G>ACA10003641SYNJ1c.2642C>T (p.Thr881Ile)
c.2510C>T (p.Thr837Ile)
c.2525C>T (p.Thr842Ile)
n.312C>T
c.2627C>T (p.Thr876Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657057G>CCA410074373SYNJ1c.2642C>G (p.Thr881Ser)
c.2510C>G (p.Thr837Ser)
c.2525C>G (p.Thr842Ser)
n.312C>G
c.2627C>G (p.Thr876Ser)
21g.32657057G=CA2386325218SYNJ1c.2642C= (p.Thr881=)
c.2510C= (p.Thr837=)
c.2525C= (p.Thr842=)
n.312C=
c.2627C= (p.Thr876=)
21g.32657057G>TCA10003642SYNJ1c.2642C>A (p.Thr881Asn)
c.2510C>A (p.Thr837Asn)
c.2525C>A (p.Thr842Asn)
n.312C>A
c.2627C>A (p.Thr876Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657058T>ACA410074374SYNJ1c.2641A>T (p.Thr881Ser)
c.2509A>T (p.Thr837Ser)
c.2524A>T (p.Thr842Ser)
n.311A>T
c.2626A>T (p.Thr876Ser)
21g.32657058T>CCA10003643SYNJ1c.2641A>G (p.Thr881Ala)
c.2509A>G (p.Thr837Ala)
c.2524A>G (p.Thr842Ala)
n.311A>G
c.2626A>G (p.Thr876Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657058T>GCA410074377SYNJ1c.2641A>C (p.Thr881Pro)
c.2509A>C (p.Thr837Pro)
c.2524A>C (p.Thr842Pro)
n.311A>C
c.2626A>C (p.Thr876Pro)
21g.32657058T=CA2386325219SYNJ1c.2641A= (p.Thr881=)
c.2509A= (p.Thr837=)
c.2524A= (p.Thr842=)
n.311A=
c.2626A= (p.Thr876=)
21g.32657058_32657061delinsTCCACA2386325220SYNJ1c.2638_2641delinsTGGA (p.Trp880=)
c.2506_2509delinsTGGA (p.Trp836=)
c.2521_2524delinsTGGA (p.Trp841=)
n.308_311delinsTGGA
c.2623_2626delinsTGGA (p.Trp875=)
21g.32657059C>ACA410074381SYNJ1c.2640G>T (p.Trp880Cys)
c.2508G>T (p.Trp836Cys)
c.2523G>T (p.Trp841Cys)
n.310G>T
c.2625G>T (p.Trp875Cys)
 ClinVar dbSNP gnomAD v4
21g.32657059C>GCA410074383SYNJ1c.2640G>C (p.Trp880Cys)
c.2508G>C (p.Trp836Cys)
c.2523G>C (p.Trp841Cys)
n.310G>C
c.2625G>C (p.Trp875Cys)
21g.32657059C>TCA410074389SYNJ1c.2640G>A (p.Trp880Ter)
c.2508G>A (p.Trp836Ter)
c.2523G>A (p.Trp841Ter)
n.310G>A
c.2625G>A (p.Trp875Ter)
 gnomAD v4
21g.32657060_32657062delCA638052307SYNJ1c.2638_2640del (p.Trp880del)
c.2506_2508del (p.Trp836del)
c.2521_2523del (p.Trp841del)
n.308_310del
c.2623_2625del (p.Trp875del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32657060C>ACA410074398SYNJ1c.2639G>T (p.Trp880Leu)
c.2507G>T (p.Trp836Leu)
c.2522G>T (p.Trp841Leu)
n.309G>T
c.2624G>T (p.Trp875Leu)
21g.32657060C>GCA410074394SYNJ1c.2639G>C (p.Trp880Ser)
c.2507G>C (p.Trp836Ser)
c.2522G>C (p.Trp841Ser)
n.309G>C
c.2624G>C (p.Trp875Ser)
21g.32657060C>TCA410074396SYNJ1c.2639G>A (p.Trp880Ter)
c.2507G>A (p.Trp836Ter)
c.2522G>A (p.Trp841Ter)
n.309G>A
c.2624G>A (p.Trp875Ter)
21g.32657061A>CCA410074400SYNJ1c.2638T>G (p.Trp880Gly)
c.2506T>G (p.Trp836Gly)
c.2521T>G (p.Trp841Gly)
n.308T>G
c.2623T>G (p.Trp875Gly)
21g.32657061A>GCA410074402SYNJ1c.2638T>C (p.Trp880Arg)
c.2506T>C (p.Trp836Arg)
c.2521T>C (p.Trp841Arg)
n.308T>C
c.2623T>C (p.Trp875Arg)
21g.32657061A>TCA410074404SYNJ1c.2638T>A (p.Trp880Arg)
c.2506T>A (p.Trp836Arg)
c.2521T>A (p.Trp841Arg)
n.308T>A
c.2623T>A (p.Trp875Arg)
21g.32657061_32657065delCA2654268217SYNJ1c.2634_2638del (p.Tyr878Ter)
c.2502_2506del (p.Tyr834Ter)
c.2517_2521del (p.Tyr839Ter)
n.304_308del
c.2619_2623del (p.Tyr873Ter)
 gnomAD v4
21g.32657062C>ACA10003645SYNJ1c.2637G>T (p.Thr879=)
c.2505G>T (p.Thr835=)
c.2520G>T (p.Thr840=)
n.307G>T
c.2622G>T (p.Thr874=)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657062C=CA2386325221SYNJ1c.2637G= (p.Thr879=)
c.2505G= (p.Thr835=)
c.2520G= (p.Thr840=)
n.307G=
c.2622G= (p.Thr874=)
21g.32657062C>GCA512332258SYNJ1c.2637G>C (p.Thr879=)
c.2505G>C (p.Thr835=)
c.2520G>C (p.Thr840=)
n.307G>C
c.2622G>C (p.Thr874=)
21g.32657062C>TCA10003644SYNJ1c.2637G>A (p.Thr879=)
c.2505G>A (p.Thr835=)
c.2520G>A (p.Thr840=)
n.307G>A
c.2622G>A (p.Thr874=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657063G>ACA10003646SYNJ1c.2636C>T (p.Thr879Met)
c.2504C>T (p.Thr835Met)
c.2519C>T (p.Thr840Met)
n.306C>T
c.2621C>T (p.Thr874Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
21g.32657063G>CCA410074415SYNJ1c.2636C>G (p.Thr879Arg)
c.2504C>G (p.Thr835Arg)
c.2519C>G (p.Thr840Arg)
n.306C>G
c.2621C>G (p.Thr874Arg)
 ClinVar dbSNP gnomAD v4
21g.32657063G=CA2386325222SYNJ1c.2636C= (p.Thr879=)
c.2504C= (p.Thr835=)
c.2519C= (p.Thr840=)
n.306C=
c.2621C= (p.Thr874=)
21g.32657063G>TCA410074413SYNJ1c.2636C>A (p.Thr879Lys)
c.2504C>A (p.Thr835Lys)
c.2519C>A (p.Thr840Lys)
n.306C>A
c.2621C>A (p.Thr874Lys)
21g.32657064T>ACA410074417SYNJ1c.2635A>T (p.Thr879Ser)
c.2503A>T (p.Thr835Ser)
c.2518A>T (p.Thr840Ser)
n.305A>T
c.2620A>T (p.Thr874Ser)
21g.32657064T>CCA410074419SYNJ1c.2635A>G (p.Thr879Ala)
c.2503A>G (p.Thr835Ala)
c.2518A>G (p.Thr840Ala)
n.305A>G
c.2620A>G (p.Thr874Ala)
21g.32657064T>GCA410074420SYNJ1c.2635A>C (p.Thr879Pro)
c.2503A>C (p.Thr835Pro)
c.2518A>C (p.Thr840Pro)
n.305A>C
c.2620A>C (p.Thr874Pro)
21g.32657065G>ACA512332260SYNJ1c.2634C>T (p.Tyr878=)
c.2502C>T (p.Tyr834=)
c.2517C>T (p.Tyr839=)
n.304C>T
c.2619C>T (p.Tyr873=)
 dbSNP gnomAD v2 gnomAD v4
21g.32657065G>CCA410074422SYNJ1c.2634C>G (p.Tyr878Ter)
c.2502C>G (p.Tyr834Ter)
c.2517C>G (p.Tyr839Ter)
n.304C>G
c.2619C>G (p.Tyr873Ter)
21g.32657065G=CA2386325223SYNJ1c.2634C= (p.Tyr878=)
c.2502C= (p.Tyr834=)
c.2517C= (p.Tyr839=)
n.304C=
c.2619C= (p.Tyr873=)
21g.32657065G>TCA410074424SYNJ1c.2634C>A (p.Tyr878Ter)
c.2502C>A (p.Tyr834Ter)
c.2517C>A (p.Tyr839Ter)
n.304C>A
c.2619C>A (p.Tyr873Ter)
21g.32657066T>ACA410074432SYNJ1c.2633A>T (p.Tyr878Phe)
c.2501A>T (p.Tyr834Phe)
c.2516A>T (p.Tyr839Phe)
n.303A>T
c.2618A>T (p.Tyr873Phe)
21g.32657066T>CCA410074434SYNJ1c.2633A>G (p.Tyr878Cys)
c.2501A>G (p.Tyr834Cys)
c.2516A>G (p.Tyr839Cys)
n.303A>G
c.2618A>G (p.Tyr873Cys)
 gnomAD v4
21g.32657066T>GCA410074437SYNJ1c.2633A>C (p.Tyr878Ser)
c.2501A>C (p.Tyr834Ser)
c.2516A>C (p.Tyr839Ser)
n.303A>C
c.2618A>C (p.Tyr873Ser)
21g.32657067A=CA2386325224SYNJ1c.2632T= (p.Tyr878=)
c.2500T= (p.Tyr834=)
c.2515T= (p.Tyr839=)
n.302T=
c.2617T= (p.Tyr873=)
21g.32657067A>CCA410074441SYNJ1c.2632T>G (p.Tyr878Asp)
c.2500T>G (p.Tyr834Asp)
c.2515T>G (p.Tyr839Asp)
n.302T>G
c.2617T>G (p.Tyr873Asp)
21g.32657067A>GCA410074443SYNJ1c.2632T>C (p.Tyr878His)
c.2500T>C (p.Tyr834His)
c.2515T>C (p.Tyr839His)
n.302T>C
c.2617T>C (p.Tyr873His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
21g.32657067A>TCA410074445SYNJ1c.2632T>A (p.Tyr878Asn)
c.2500T>A (p.Tyr834Asn)
c.2515T>A (p.Tyr839Asn)
n.302T>A
c.2617T>A (p.Tyr873Asn)
21g.32657068C>ACA512332264SYNJ1c.2631G>T (p.Leu877=)
c.2499G>T (p.Leu833=)
c.2514G>T (p.Leu838=)
n.301G>T
c.2616G>T (p.Leu872=)
21g.32657068C=CA2386325225SYNJ1c.2631G= (p.Leu877=)
c.2499G= (p.Leu833=)
c.2514G= (p.Leu838=)
n.301G=
c.2616G= (p.Leu872=)
21g.32657068C>GCA512332265SYNJ1c.2631G>C (p.Leu877=)
c.2499G>C (p.Leu833=)
c.2514G>C (p.Leu838=)
n.301G>C
c.2616G>C (p.Leu872=)
 ClinVar dbSNP
21g.32657068C>TCA512332266SYNJ1c.2631G>A (p.Leu877=)
c.2499G>A (p.Leu833=)
c.2514G>A (p.Leu838=)
n.301G>A
c.2616G>A (p.Leu872=)
 dbSNP gnomAD v2 gnomAD v4
21g.32657069A>CCA410074451SYNJ1c.2630T>G (p.Leu877Arg)
c.2498T>G (p.Leu833Arg)
c.2513T>G (p.Leu838Arg)
n.300T>G
c.2615T>G (p.Leu872Arg)
21g.32657069A>GCA410074450SYNJ1c.2630T>C (p.Leu877Pro)
c.2498T>C (p.Leu833Pro)
c.2513T>C (p.Leu838Pro)
n.300T>C
c.2615T>C (p.Leu872Pro)
21g.32657069A>TCA410074448SYNJ1c.2630T>A (p.Leu877Gln)
c.2498T>A (p.Leu833Gln)
c.2513T>A (p.Leu838Gln)
n.300T>A
c.2615T>A (p.Leu872Gln)
21g.32657070G>ACA512332267SYNJ1c.2629C>T (p.Leu877=)
c.2497C>T (p.Leu833=)
c.2512C>T (p.Leu838=)
n.299C>T
c.2614C>T (p.Leu872=)
 gnomAD v4
21g.32657070G>CCA410074454SYNJ1c.2629C>G (p.Leu877Val)
c.2497C>G (p.Leu833Val)
c.2512C>G (p.Leu838Val)
n.299C>G
c.2614C>G (p.Leu872Val)
21g.32657070G>TCA410074456SYNJ1c.2629C>A (p.Leu877Met)
c.2497C>A (p.Leu833Met)
c.2512C>A (p.Leu838Met)
n.299C>A
c.2614C>A (p.Leu872Met)
21g.32657071A>CCA410074460SYNJ1c.2628T>G (p.Ile876Met)
c.2496T>G (p.Ile832Met)
c.2511T>G (p.Ile837Met)
n.298T>G
c.2613T>G (p.Ile871Met)
 gnomAD v4
21g.32657071A>GCA512332269SYNJ1c.2628T>C (p.Ile876=)
c.2496T>C (p.Ile832=)
c.2511T>C (p.Ile837=)
n.298T>C
c.2613T>C (p.Ile871=)
21g.32657071A>TCA512332270SYNJ1c.2628T>A (p.Ile876=)
c.2496T>A (p.Ile832=)
c.2511T>A (p.Ile837=)
n.298T>A
c.2613T>A (p.Ile871=)
21g.32657072A>CCA410074463SYNJ1c.2627T>G (p.Ile876Ser)
c.2495T>G (p.Ile832Ser)
c.2510T>G (p.Ile837Ser)
n.297T>G
c.2612T>G (p.Ile871Ser)
21g.32657072A>GCA410074465SYNJ1c.2627T>C (p.Ile876Thr)
c.2495T>C (p.Ile832Thr)
c.2510T>C (p.Ile837Thr)
n.297T>C
c.2612T>C (p.Ile871Thr)
21g.32657072A>TCA410074467SYNJ1c.2627T>A (p.Ile876Asn)
c.2495T>A (p.Ile832Asn)
c.2510T>A (p.Ile837Asn)
n.297T>A
c.2612T>A (p.Ile871Asn)
21g.32657073T>ACA410074472SYNJ1c.2626A>T (p.Ile876Phe)
c.2494A>T (p.Ile832Phe)
c.2509A>T (p.Ile837Phe)
n.296A>T
c.2611A>T (p.Ile871Phe)
21g.32657073T>CCA410074474SYNJ1c.2626A>G (p.Ile876Val)
c.2494A>G (p.Ile832Val)
c.2509A>G (p.Ile837Val)
n.296A>G
c.2611A>G (p.Ile871Val)
21g.32657073T>GCA410074477SYNJ1c.2626A>C (p.Ile876Leu)
c.2494A>C (p.Ile832Leu)
c.2509A>C (p.Ile837Leu)
n.296A>C
c.2611A>C (p.Ile871Leu)
 gnomAD v4
21g.32657074T>ACA410074480SYNJ1c.2625A>T (p.Lys875Asn)
c.2493A>T (p.Lys831Asn)
c.2508A>T (p.Lys836Asn)
n.295A>T
c.2610A>T (p.Lys870Asn)
21g.32657074T>CCA512332272SYNJ1c.2625A>G (p.Lys875=)
c.2493A>G (p.Lys831=)
c.2508A>G (p.Lys836=)
n.295A>G
c.2610A>G (p.Lys870=)
21g.32657074T>GCA410074481SYNJ1c.2625A>C (p.Lys875Asn)
c.2493A>C (p.Lys831Asn)
c.2508A>C (p.Lys836Asn)
n.295A>C
c.2610A>C (p.Lys870Asn)
21g.32657075T>ACA410074483SYNJ1c.2624A>T (p.Lys875Ile)
c.2492A>T (p.Lys831Ile)
c.2507A>T (p.Lys836Ile)
n.294A>T
c.2609A>T (p.Lys870Ile)
21g.32657075T>CCA410074486SYNJ1c.2624A>G (p.Lys875Arg)
c.2492A>G (p.Lys831Arg)
c.2507A>G (p.Lys836Arg)
n.294A>G
c.2609A>G (p.Lys870Arg)
21g.32657075T>GCA410074488SYNJ1c.2624A>C (p.Lys875Thr)
c.2492A>C (p.Lys831Thr)
c.2507A>C (p.Lys836Thr)
n.294A>C
c.2609A>C (p.Lys870Thr)
21g.32657076T>ACA410074490SYNJ1c.2623A>T (p.Lys875Ter)
c.2491A>T (p.Lys831Ter)
c.2506A>T (p.Lys836Ter)
n.293A>T
c.2608A>T (p.Lys870Ter)
21g.32657076T>CCA410074494SYNJ1c.2623A>G (p.Lys875Glu)
c.2491A>G (p.Lys831Glu)
c.2506A>G (p.Lys836Glu)
n.293A>G
c.2608A>G (p.Lys870Glu)
21g.32657076T>GCA410074492SYNJ1c.2623A>C (p.Lys875Gln)
c.2491A>C (p.Lys831Gln)
c.2506A>C (p.Lys836Gln)
n.293A>C
c.2608A>C (p.Lys870Gln)
21g.32657077G>ACA512332274SYNJ1c.2622C>T (p.Ser874=)
c.2490C>T (p.Ser830=)
c.2505C>T (p.Ser835=)
n.292C>T
c.2607C>T (p.Ser869=)
21g.32657077G>CCA410074497SYNJ1c.2622C>G (p.Ser874Arg)
c.2490C>G (p.Ser830Arg)
c.2505C>G (p.Ser835Arg)
n.292C>G
c.2607C>G (p.Ser869Arg)
21g.32657077G=CA2386325226SYNJ1c.2622C= (p.Ser874=)
c.2490C= (p.Ser830=)
c.2505C= (p.Ser835=)
n.292C=
c.2607C= (p.Ser869=)
21g.32657077G>TCA10003647SYNJ1c.2622C>A (p.Ser874Arg)
c.2490C>A (p.Ser830Arg)
c.2505C>A (p.Ser835Arg)
n.292C>A
c.2607C>A (p.Ser869Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657078C>ACA410074501SYNJ1c.2621G>T (p.Ser874Ile)
c.2489G>T (p.Ser830Ile)
c.2504G>T (p.Ser835Ile)
n.291G>T
c.2606G>T (p.Ser869Ile)
21g.32657078C>GCA410074503SYNJ1c.2621G>C (p.Ser874Thr)
c.2489G>C (p.Ser830Thr)
c.2504G>C (p.Ser835Thr)
n.291G>C
c.2606G>C (p.Ser869Thr)
21g.32657078C>TCA410074506SYNJ1c.2621G>A (p.Ser874Asn)
c.2489G>A (p.Ser830Asn)
c.2504G>A (p.Ser835Asn)
n.291G>A
c.2606G>A (p.Ser869Asn)
21g.32657079T>ACA410074510SYNJ1c.2620A>T (p.Ser874Cys)
c.2488A>T (p.Ser830Cys)
c.2503A>T (p.Ser835Cys)
n.290A>T
c.2605A>T (p.Ser869Cys)
21g.32657079T>CCA410074512SYNJ1c.2620A>G (p.Ser874Gly)
c.2488A>G (p.Ser830Gly)
c.2503A>G (p.Ser835Gly)
n.290A>G
c.2605A>G (p.Ser869Gly)
 dbSNP
21g.32657079T>GCA410074515SYNJ1c.2620A>C (p.Ser874Arg)
c.2488A>C (p.Ser830Arg)
c.2503A>C (p.Ser835Arg)
n.290A>C
c.2605A>C (p.Ser869Arg)
21g.32657079T=CA2386325227SYNJ1c.2620A= (p.Ser874=)
c.2488A= (p.Ser830=)
c.2503A= (p.Ser835=)
n.290A=
c.2605A= (p.Ser869=)
21g.32657080T>ACA410074518SYNJ1c.2619A>T (p.Glu873Asp)
c.2487A>T (p.Glu829Asp)
c.2502A>T (p.Glu834Asp)
n.289A>T
c.2604A>T (p.Glu868Asp)
21g.32657080T>CCA512332278SYNJ1c.2619A>G (p.Glu873=)
c.2487A>G (p.Glu829=)
c.2502A>G (p.Glu834=)
n.289A>G
c.2604A>G (p.Glu868=)
21g.32657080T>GCA410074520SYNJ1c.2619A>C (p.Glu873Asp)
c.2487A>C (p.Glu829Asp)
c.2502A>C (p.Glu834Asp)
n.289A>C
c.2604A>C (p.Glu868Asp)
21g.32657081T>ACA410074525SYNJ1c.2618A>T (p.Glu873Val)
c.2486A>T (p.Glu829Val)
c.2501A>T (p.Glu834Val)
n.288A>T
c.2603A>T (p.Glu868Val)
21g.32657081T>CCA410074527SYNJ1c.2618A>G (p.Glu873Gly)
c.2486A>G (p.Glu829Gly)
c.2501A>G (p.Glu834Gly)
n.288A>G
c.2603A>G (p.Glu868Gly)
21g.32657081T>GCA410074523SYNJ1c.2618A>C (p.Glu873Ala)
c.2486A>C (p.Glu829Ala)
c.2501A>C (p.Glu834Ala)
n.288A>C
c.2603A>C (p.Glu868Ala)
21g.32657082C>ACA410074530SYNJ1c.2617G>T (p.Glu873Ter)
c.2485G>T (p.Glu829Ter)
c.2500G>T (p.Glu834Ter)
n.287G>T
c.2602G>T (p.Glu868Ter)
21g.32657082C>GCA410074532SYNJ1c.2617G>C (p.Glu873Gln)
c.2485G>C (p.Glu829Gln)
c.2500G>C (p.Glu834Gln)
n.287G>C
c.2602G>C (p.Glu868Gln)
21g.32657082C>TCA410074534SYNJ1c.2617G>A (p.Glu873Lys)
c.2485G>A (p.Glu829Lys)
c.2500G>A (p.Glu834Lys)
n.287G>A
c.2602G>A (p.Glu868Lys)
21g.32657083A=CA2386325228SYNJ1c.2616T= (p.Asp872=)
c.2484T= (p.Asp828=)
c.2499T= (p.Asp833=)
n.286T=
c.2601T= (p.Asp867=)
21g.32657083A>CCA410074537SYNJ1c.2616T>G (p.Asp872Glu)
c.2484T>G (p.Asp828Glu)
c.2499T>G (p.Asp833Glu)
n.286T>G
c.2601T>G (p.Asp867Glu)
 gnomAD v4
21g.32657083A>GCA512332280SYNJ1c.2616T>C (p.Asp872=)
c.2484T>C (p.Asp828=)
c.2499T>C (p.Asp833=)
n.286T>C
c.2601T>C (p.Asp867=)
 dbSNP
21g.32657083A>TCA410074539SYNJ1c.2616T>A (p.Asp872Glu)
c.2484T>A (p.Asp828Glu)
c.2499T>A (p.Asp833Glu)
n.286T>A
c.2601T>A (p.Asp867Glu)
21g.32657084T>ACA410074543SYNJ1c.2615A>T (p.Asp872Val)
c.2483A>T (p.Asp828Val)
c.2498A>T (p.Asp833Val)
n.285A>T
c.2600A>T (p.Asp867Val)
 gnomAD v4
21g.32657084T>CCA10003648SYNJ1c.2615A>G (p.Asp872Gly)
c.2483A>G (p.Asp828Gly)
c.2498A>G (p.Asp833Gly)
n.285A>G
c.2600A>G (p.Asp867Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657084T>GCA410074547SYNJ1c.2615A>C (p.Asp872Ala)
c.2483A>C (p.Asp828Ala)
c.2498A>C (p.Asp833Ala)
n.285A>C
c.2600A>C (p.Asp867Ala)
21g.32657084T=CA2386325229SYNJ1c.2615A= (p.Asp872=)
c.2483A= (p.Asp828=)
c.2498A= (p.Asp833=)
n.285A=
c.2600A= (p.Asp867=)
21g.32657085C>ACA410074549SYNJ1c.2614G>T (p.Asp872Tyr)
c.2482G>T (p.Asp828Tyr)
c.2497G>T (p.Asp833Tyr)
n.284G>T
c.2599G>T (p.Asp867Tyr)
21g.32657085C>GCA410074552SYNJ1c.2614G>C (p.Asp872His)
c.2482G>C (p.Asp828His)
c.2497G>C (p.Asp833His)
n.284G>C
c.2599G>C (p.Asp867His)
21g.32657085C>TCA410074554SYNJ1c.2614G>A (p.Asp872Asn)
c.2482G>A (p.Asp828Asn)
c.2497G>A (p.Asp833Asn)
n.284G>A
c.2599G>A (p.Asp867Asn)
21g.32657086T>ACA410074557SYNJ1c.2613A>T (p.Gln871His)
c.2481A>T (p.Gln827His)
c.2496A>T (p.Gln832His)
n.283A>T
c.2598A>T (p.Gln866His)
21g.32657086T>CCA319425855SYNJ1c.2613A>G (p.Gln871=)
c.2481A>G (p.Gln827=)
c.2496A>G (p.Gln832=)
n.283A>G
c.2598A>G (p.Gln866=)
 dbSNP
21g.32657086T>GCA410074559SYNJ1c.2613A>C (p.Gln871His)
c.2481A>C (p.Gln827His)
c.2496A>C (p.Gln832His)
n.283A>C
c.2598A>C (p.Gln866His)
21g.32657086T=CA2386325230SYNJ1c.2613A= (p.Gln871=)
c.2481A= (p.Gln827=)
c.2496A= (p.Gln832=)
n.283A=
c.2598A= (p.Gln866=)
21g.32657087T>ACA410074566SYNJ1c.2612A>T (p.Gln871Leu)
c.2480A>T (p.Gln827Leu)
c.2495A>T (p.Gln832Leu)
n.282A>T
c.2597A>T (p.Gln866Leu)
21g.32657087T>CCA410074564SYNJ1c.2612A>G (p.Gln871Arg)
c.2480A>G (p.Gln827Arg)
c.2495A>G (p.Gln832Arg)
n.282A>G
c.2597A>G (p.Gln866Arg)
21g.32657087T>GCA410074562SYNJ1c.2612A>C (p.Gln871Pro)
c.2480A>C (p.Gln827Pro)
c.2495A>C (p.Gln832Pro)
n.282A>C
c.2597A>C (p.Gln866Pro)
21g.32657088G>ACA410074569SYNJ1c.2611C>T (p.Gln871Ter)
c.2479C>T (p.Gln827Ter)
c.2494C>T (p.Gln832Ter)
n.281C>T
c.2596C>T (p.Gln866Ter)
21g.32657088G>CCA410074573SYNJ1c.2611C>G (p.Gln871Glu)
c.2479C>G (p.Gln827Glu)
c.2494C>G (p.Gln832Glu)
n.281C>G
c.2596C>G (p.Gln866Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
21g.32657088G=CA2386325231SYNJ1c.2611C= (p.Gln871=)
c.2479C= (p.Gln827=)
c.2494C= (p.Gln832=)
n.281C=
c.2596C= (p.Gln866=)
21g.32657088G>TCA410074575SYNJ1c.2611C>A (p.Gln871Lys)
c.2479C>A (p.Gln827Lys)
c.2494C>A (p.Gln832Lys)
n.281C>A
c.2596C>A (p.Gln866Lys)
21g.32657089A>CCA410074578SYNJ1c.2610T>G (p.Phe870Leu)
c.2478T>G (p.Phe826Leu)
c.2493T>G (p.Phe831Leu)
n.280T>G
c.2595T>G (p.Phe865Leu)
21g.32657089A>GCA512332283SYNJ1c.2610T>C (p.Phe870=)
c.2478T>C (p.Phe826=)
c.2493T>C (p.Phe831=)
n.280T>C
c.2595T>C (p.Phe865=)
21g.32657089A>TCA410074580SYNJ1c.2610T>A (p.Phe870Leu)
c.2478T>A (p.Phe826Leu)
c.2493T>A (p.Phe831Leu)
n.280T>A
c.2595T>A (p.Phe865Leu)
21g.32657090A>CCA410074584SYNJ1c.2609T>G (p.Phe870Cys)
c.2477T>G (p.Phe826Cys)
c.2492T>G (p.Phe831Cys)
n.279T>G
c.2594T>G (p.Phe865Cys)
21g.32657090A>GCA410074586SYNJ1c.2609T>C (p.Phe870Ser)
c.2477T>C (p.Phe826Ser)
c.2492T>C (p.Phe831Ser)
n.279T>C
c.2594T>C (p.Phe865Ser)
21g.32657090A>TCA410074589SYNJ1c.2609T>A (p.Phe870Tyr)
c.2477T>A (p.Phe826Tyr)
c.2492T>A (p.Phe831Tyr)
n.279T>A
c.2594T>A (p.Phe865Tyr)
21g.32657091A=CA2386325232SYNJ1c.2608T= (p.Phe870=)
c.2476T= (p.Phe826=)
c.2491T= (p.Phe831=)
n.278T=
c.2593T= (p.Phe865=)
21g.32657091A>CCA410074592SYNJ1c.2608T>G (p.Phe870Val)
c.2476T>G (p.Phe826Val)
c.2491T>G (p.Phe831Val)
n.278T>G
c.2593T>G (p.Phe865Val)
21g.32657091A>GCA410074595SYNJ1c.2608T>C (p.Phe870Leu)
c.2476T>C (p.Phe826Leu)
c.2491T>C (p.Phe831Leu)
n.278T>C
c.2593T>C (p.Phe865Leu)
 dbSNP gnomAD v2 gnomAD v4
21g.32657091A>TCA410074597SYNJ1c.2608T>A (p.Phe870Ile)
c.2476T>A (p.Phe826Ile)
c.2491T>A (p.Phe831Ile)
n.278T>A
c.2593T>A (p.Phe865Ile)
21g.32657092A>CCA410074605SYNJ1c.2607T>G (p.Ser869Arg)
c.2475T>G (p.Ser825Arg)
c.2490T>G (p.Ser830Arg)
n.277T>G
c.2592T>G (p.Ser864Arg)
21g.32657092A>GCA512332288SYNJ1c.2607T>C (p.Ser869=)
c.2475T>C (p.Ser825=)
c.2490T>C (p.Ser830=)
n.277T>C
c.2592T>C (p.Ser864=)
 gnomAD v4
21g.32657092A>TCA410074607SYNJ1c.2607T>A (p.Ser869Arg)
c.2475T>A (p.Ser825Arg)
c.2490T>A (p.Ser830Arg)
n.277T>A
c.2592T>A (p.Ser864Arg)
21g.32657093C>ACA410074612SYNJ1c.2606G>T (p.Ser869Ile)
c.2474G>T (p.Ser825Ile)
c.2489G>T (p.Ser830Ile)
n.276G>T
c.2591G>T (p.Ser864Ile)
21g.32657093C>GCA410074614SYNJ1c.2606G>C (p.Ser869Thr)
c.2474G>C (p.Ser825Thr)
c.2489G>C (p.Ser830Thr)
n.276G>C
c.2591G>C (p.Ser864Thr)
21g.32657093C>TCA410074609SYNJ1c.2606G>A (p.Ser869Asn)
c.2474G>A (p.Ser825Asn)
c.2489G>A (p.Ser830Asn)
n.276G>A
c.2591G>A (p.Ser864Asn)
21g.32657094T>ACA410074623SYNJ1c.2605A>T (p.Ser869Cys)
c.2473A>T (p.Ser825Cys)
c.2488A>T (p.Ser830Cys)
n.275A>T
c.2590A>T (p.Ser864Cys)
21g.32657094T>CCA10003649SYNJ1c.2605A>G (p.Ser869Gly)
c.2473A>G (p.Ser825Gly)
c.2488A>G (p.Ser830Gly)
n.275A>G
c.2590A>G (p.Ser864Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657094T>GCA410074621SYNJ1c.2605A>C (p.Ser869Arg)
c.2473A>C (p.Ser825Arg)
c.2488A>C (p.Ser830Arg)
n.275A>C
c.2590A>C (p.Ser864Arg)
21g.32657094T=CA2386325233SYNJ1c.2605A= (p.Ser869=)
c.2473A= (p.Ser825=)
c.2488A= (p.Ser830=)
n.275A=
c.2590A= (p.Ser864=)
21g.32657095A=CA2386325234SYNJ1c.2604T= (p.Ala868=)
c.2472T= (p.Ala824=)
c.2487T= (p.Ala829=)
n.274T=
c.2589T= (p.Ala863=)
21g.32657095A>CCA512332294SYNJ1c.2604T>G (p.Ala868=)
c.2472T>G (p.Ala824=)
c.2487T>G (p.Ala829=)
n.274T>G
c.2589T>G (p.Ala863=)
21g.32657095A>GCA10003650SYNJ1c.2604T>C (p.Ala868=)
c.2472T>C (p.Ala824=)
c.2487T>C (p.Ala829=)
n.274T>C
c.2589T>C (p.Ala863=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657095A>TCA512332293SYNJ1c.2604T>A (p.Ala868=)
c.2472T>A (p.Ala824=)
c.2487T>A (p.Ala829=)
n.274T>A
c.2589T>A (p.Ala863=)
21g.32657096G>ACA410074630SYNJ1c.2603C>T (p.Ala868Val)
c.2471C>T (p.Ala824Val)
c.2486C>T (p.Ala829Val)
n.273C>T
c.2588C>T (p.Ala863Val)
21g.32657096G>CCA410074632SYNJ1c.2603C>G (p.Ala868Gly)
c.2471C>G (p.Ala824Gly)
c.2486C>G (p.Ala829Gly)
n.273C>G
c.2588C>G (p.Ala863Gly)
21g.32657096G>TCA410074635SYNJ1c.2603C>A (p.Ala868Asp)
c.2471C>A (p.Ala824Asp)
c.2486C>A (p.Ala829Asp)
n.273C>A
c.2588C>A (p.Ala863Asp)
21g.32657097C>ACA410074643SYNJ1c.2602G>T (p.Ala868Ser)
c.2470G>T (p.Ala824Ser)
c.2485G>T (p.Ala829Ser)
n.272G>T
c.2587G>T (p.Ala863Ser)
21g.32657097C>GCA410074638SYNJ1c.2602G>C (p.Ala868Pro)
c.2470G>C (p.Ala824Pro)
c.2485G>C (p.Ala829Pro)
n.272G>C
c.2587G>C (p.Ala863Pro)
21g.32657097C>TCA410074641SYNJ1c.2602G>A (p.Ala868Thr)
c.2470G>A (p.Ala824Thr)
c.2485G>A (p.Ala829Thr)
n.272G>A
c.2587G>A (p.Ala863Thr)
 gnomAD v4
21g.32657098A>CCA410074647SYNJ1c.2601T>G (p.Asn867Lys)
c.2469T>G (p.Asn823Lys)
c.2484T>G (p.Asn828Lys)
n.271T>G
c.2586T>G (p.Asn862Lys)
21g.32657098A>GCA512332296SYNJ1c.2601T>C (p.Asn867=)
c.2469T>C (p.Asn823=)
c.2484T>C (p.Asn828=)
n.271T>C
c.2586T>C (p.Asn862=)
 gnomAD v4
21g.32657098A>TCA410074649SYNJ1c.2601T>A (p.Asn867Lys)
c.2469T>A (p.Asn823Lys)
c.2484T>A (p.Asn828Lys)
n.271T>A
c.2586T>A (p.Asn862Lys)
21g.32657099T>ACA410074652SYNJ1c.2600A>T (p.Asn867Ile)
c.2468A>T (p.Asn823Ile)
c.2483A>T (p.Asn828Ile)
n.270A>T
c.2585A>T (p.Asn862Ile)
21g.32657099T>CCA410074654SYNJ1c.2600A>G (p.Asn867Ser)
c.2468A>G (p.Asn823Ser)
c.2483A>G (p.Asn828Ser)
n.270A>G
c.2585A>G (p.Asn862Ser)
21g.32657099T>GCA410074657SYNJ1c.2600A>C (p.Asn867Thr)
c.2468A>C (p.Asn823Thr)
c.2483A>C (p.Asn828Thr)
n.270A>C
c.2585A>C (p.Asn862Thr)
21g.32657100T>ACA410074660SYNJ1c.2599A>T (p.Asn867Tyr)
c.2467A>T (p.Asn823Tyr)
c.2482A>T (p.Asn828Tyr)
n.269A>T
c.2584A>T (p.Asn862Tyr)
21g.32657100T>CCA410074664SYNJ1c.2599A>G (p.Asn867Asp)
c.2467A>G (p.Asn823Asp)
c.2482A>G (p.Asn828Asp)
n.269A>G
c.2584A>G (p.Asn862Asp)
 dbSNP gnomAD v2 gnomAD v4
21g.32657100T>GCA410074662SYNJ1c.2599A>C (p.Asn867His)
c.2467A>C (p.Asn823His)
c.2482A>C (p.Asn828His)
n.269A>C
c.2584A>C (p.Asn862His)
21g.32657100T=CA2386325235SYNJ1c.2599A= (p.Asn867=)
c.2467A= (p.Asn823=)
c.2482A= (p.Asn828=)
n.269A=
c.2584A= (p.Asn862=)
21g.32657101T>ACA512332301SYNJ1c.2598A>T (p.Leu866=)
c.2466A>T (p.Leu822=)
c.2481A>T (p.Leu827=)
n.268A>T
c.2583A>T (p.Leu861=)
21g.32657101T>CCA512332299SYNJ1c.2598A>G (p.Leu866=)
c.2466A>G (p.Leu822=)
c.2481A>G (p.Leu827=)
n.268A>G
c.2583A>G (p.Leu861=)
21g.32657101T>GCA512332300SYNJ1c.2598A>C (p.Leu866=)
c.2466A>C (p.Leu822=)
c.2481A>C (p.Leu827=)
n.268A>C
c.2583A>C (p.Leu861=)
21g.32657101_32657104delinsTAGACA2386325236SYNJ1c.2595_2598delinsTCTA (p.Leu865=)
c.2463_2466delinsTCTA (p.Leu821=)
c.2478_2481delinsTCTA (p.Leu826=)
n.265_268delinsTCTA
c.2580_2583delinsTCTA (p.Leu860=)
21g.32657102A>CCA410074668SYNJ1c.2597T>G (p.Leu866Arg)
c.2465T>G (p.Leu822Arg)
c.2480T>G (p.Leu827Arg)
n.267T>G
c.2582T>G (p.Leu861Arg)
21g.32657102A>GCA410074672SYNJ1c.2597T>C (p.Leu866Pro)
c.2465T>C (p.Leu822Pro)
c.2480T>C (p.Leu827Pro)
n.267T>C
c.2582T>C (p.Leu861Pro)
21g.32657102A>TCA410074674SYNJ1c.2597T>A (p.Leu866Gln)
c.2465T>A (p.Leu822Gln)
c.2480T>A (p.Leu827Gln)
n.267T>A
c.2582T>A (p.Leu861Gln)
21g.32657105_32657107delCA10003651SYNJ1c.2595_2597del (p.Leu866del)
c.2463_2465del (p.Leu822del)
c.2478_2480del (p.Leu827del)
n.265_267del
c.2580_2582del (p.Leu861del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657103G>ACA512332303SYNJ1c.2596C>T (p.Leu866=)
c.2464C>T (p.Leu822=)
c.2479C>T (p.Leu827=)
n.266C>T
c.2581C>T (p.Leu861=)
21g.32657103G>CCA410074678SYNJ1c.2596C>G (p.Leu866Val)
c.2464C>G (p.Leu822Val)
c.2479C>G (p.Leu827Val)
n.266C>G
c.2581C>G (p.Leu861Val)
21g.32657103G>TCA410074680SYNJ1c.2596C>A (p.Leu866Ile)
c.2464C>A (p.Leu822Ile)
c.2479C>A (p.Leu827Ile)
n.266C>A
c.2581C>A (p.Leu861Ile)
21g.32657104A>CCA512332305SYNJ1c.2595T>G (p.Leu865=)
c.2463T>G (p.Leu821=)
c.2478T>G (p.Leu826=)
n.265T>G
c.2580T>G (p.Leu860=)
21g.32657104A>GCA512332306SYNJ1c.2595T>C (p.Leu865=)
c.2463T>C (p.Leu821=)
c.2478T>C (p.Leu826=)
n.265T>C
c.2580T>C (p.Leu860=)
21g.32657104A>TCA512332307SYNJ1c.2595T>A (p.Leu865=)
c.2463T>A (p.Leu821=)
c.2478T>A (p.Leu826=)
n.265T>A
c.2580T>A (p.Leu860=)
21g.32657105A>CCA410074684SYNJ1c.2594T>G (p.Leu865Arg)
c.2462T>G (p.Leu821Arg)
c.2477T>G (p.Leu826Arg)
n.264T>G
c.2579T>G (p.Leu860Arg)
21g.32657105A>GCA410074686SYNJ1c.2594T>C (p.Leu865Pro)
c.2462T>C (p.Leu821Pro)
c.2477T>C (p.Leu826Pro)
n.264T>C
c.2579T>C (p.Leu860Pro)
21g.32657105A>TCA410074688SYNJ1c.2594T>A (p.Leu865His)
c.2462T>A (p.Leu821His)
c.2477T>A (p.Leu826His)
n.264T>A
c.2579T>A (p.Leu860His)
21g.32657106G>ACA410074691SYNJ1c.2593C>T (p.Leu865Phe)
c.2461C>T (p.Leu821Phe)
c.2476C>T (p.Leu826Phe)
n.263C>T
c.2578C>T (p.Leu860Phe)
21g.32657106G>CCA410074693SYNJ1c.2593C>G (p.Leu865Val)
c.2461C>G (p.Leu821Val)
c.2476C>G (p.Leu826Val)
n.263C>G
c.2578C>G (p.Leu860Val)
21g.32657106G>TCA410074696SYNJ1c.2593C>A (p.Leu865Ile)
c.2461C>A (p.Leu821Ile)
c.2476C>A (p.Leu826Ile)
n.263C>A
c.2578C>A (p.Leu860Ile)
21g.32657107A>CCA410074702SYNJ1c.2592T>G (p.Asp864Glu)
c.2460T>G (p.Asp820Glu)
c.2475T>G (p.Asp825Glu)
n.262T>G
c.2577T>G (p.Asp859Glu)
21g.32657107A>GCA512332311SYNJ1c.2592T>C (p.Asp864=)
c.2460T>C (p.Asp820=)
c.2475T>C (p.Asp825=)
n.262T>C
c.2577T>C (p.Asp859=)
21g.32657107A>TCA410074700SYNJ1c.2592T>A (p.Asp864Glu)
c.2460T>A (p.Asp820Glu)
c.2475T>A (p.Asp825Glu)
n.262T>A
c.2577T>A (p.Asp859Glu)
21g.32657108T>ACA410074706SYNJ1c.2591A>T (p.Asp864Val)
c.2459A>T (p.Asp820Val)
c.2474A>T (p.Asp825Val)
n.261A>T
c.2576A>T (p.Asp859Val)
21g.32657108T>CCA410074708SYNJ1c.2591A>G (p.Asp864Gly)
c.2459A>G (p.Asp820Gly)
c.2474A>G (p.Asp825Gly)
n.261A>G
c.2576A>G (p.Asp859Gly)
21g.32657108T>GCA410074710SYNJ1c.2591A>C (p.Asp864Ala)
c.2459A>C (p.Asp820Ala)
c.2474A>C (p.Asp825Ala)
n.261A>C
c.2576A>C (p.Asp859Ala)
21g.32657109C>ACA410074714SYNJ1c.2590G>T (p.Asp864Tyr)
c.2458G>T (p.Asp820Tyr)
c.2473G>T (p.Asp825Tyr)
n.260G>T
c.2575G>T (p.Asp859Tyr)
 ClinVar dbSNP
21g.32657109C>GCA410074716SYNJ1c.2590G>C (p.Asp864His)
c.2458G>C (p.Asp820His)
c.2473G>C (p.Asp825His)
n.260G>C
c.2575G>C (p.Asp859His)
 gnomAD v4
21g.32657109C>TCA410074718SYNJ1c.2590G>A (p.Asp864Asn)
c.2458G>A (p.Asp820Asn)
c.2473G>A (p.Asp825Asn)
n.260G>A
c.2575G>A (p.Asp859Asn)
21g.32657110T>ACA512332314SYNJ1c.2589A>T (p.Leu863=)
c.2457A>T (p.Leu819=)
c.2472A>T (p.Leu824=)
n.259A>T
c.2574A>T (p.Leu858=)
21g.32657110T>CCA512332315SYNJ1c.2589A>G (p.Leu863=)
c.2457A>G (p.Leu819=)
c.2472A>G (p.Leu824=)
n.259A>G
c.2574A>G (p.Leu858=)
 gnomAD v4
21g.32657110T>GCA512332316SYNJ1c.2589A>C (p.Leu863=)
c.2457A>C (p.Leu819=)
c.2472A>C (p.Leu824=)
n.259A>C
c.2574A>C (p.Leu858=)
 ClinVar dbSNP gnomAD v4
21g.32657110T=CA2386325237SYNJ1c.2589A= (p.Leu863=)
c.2457A= (p.Leu819=)
c.2472A= (p.Leu824=)
n.259A=
c.2574A= (p.Leu858=)
21g.32657111A>CCA410074720SYNJ1c.2588T>G (p.Leu863Arg)
c.2456T>G (p.Leu819Arg)
c.2471T>G (p.Leu824Arg)
n.258T>G
c.2573T>G (p.Leu858Arg)
21g.32657111A>GCA410074723SYNJ1c.2588T>C (p.Leu863Pro)
c.2456T>C (p.Leu819Pro)
c.2471T>C (p.Leu824Pro)
n.258T>C
c.2573T>C (p.Leu858Pro)
21g.32657111A>TCA410074725SYNJ1c.2588T>A (p.Leu863Gln)
c.2456T>A (p.Leu819Gln)
c.2471T>A (p.Leu824Gln)
n.258T>A
c.2573T>A (p.Leu858Gln)
21g.32657112G>ACA512332319SYNJ1c.2587C>T (p.Leu863=)
c.2455C>T (p.Leu819=)
c.2470C>T (p.Leu824=)
n.257C>T
c.2572C>T (p.Leu858=)
21g.32657112G>CCA410074729SYNJ1c.2587C>G (p.Leu863Val)
c.2455C>G (p.Leu819Val)
c.2470C>G (p.Leu824Val)
n.257C>G
c.2572C>G (p.Leu858Val)
21g.32657112G>TCA410074732SYNJ1c.2587C>A (p.Leu863Ile)
c.2455C>A (p.Leu819Ile)
c.2470C>A (p.Leu824Ile)
n.257C>A
c.2572C>A (p.Leu858Ile)
 gnomAD v4
21g.32657112dupCA2817728797SYNJ1c.2587dup (p.Leu863ProfsTer7)
c.2455dup (p.Leu819ProfsTer7)
c.2470dup (p.Leu824ProfsTer7)
n.257dup
c.2572dup (p.Leu858ProfsTer7)
21g.32657113A=CA2386325238SYNJ1c.2586T= (p.Asp862=)
c.2454T= (p.Asp818=)
c.2469T= (p.Asp823=)
n.256T=
c.2571T= (p.Asp857=)
21g.32657113A>CCA10003652SYNJ1c.2586T>G (p.Asp862Glu)
c.2454T>G (p.Asp818Glu)
c.2469T>G (p.Asp823Glu)
n.256T>G
c.2571T>G (p.Asp857Glu)
 dbSNP ExAC gnomAD v3 gnomAD v4
21g.32657113A>GCA512332320SYNJ1c.2586T>C (p.Asp862=)
c.2454T>C (p.Asp818=)
c.2469T>C (p.Asp823=)
n.256T>C
c.2571T>C (p.Asp857=)
21g.32657113A>TCA410074736SYNJ1c.2586T>A (p.Asp862Glu)
c.2454T>A (p.Asp818Glu)
c.2469T>A (p.Asp823Glu)
n.256T>A
c.2571T>A (p.Asp857Glu)
 dbSNP gnomAD v2 gnomAD v4
21g.32657114T>ACA410074739SYNJ1c.2585A>T (p.Asp862Val)
c.2453A>T (p.Asp818Val)
c.2468A>T (p.Asp823Val)
n.255A>T
c.2570A>T (p.Asp857Val)
21g.32657114T>CCA410074738SYNJ1c.2585A>G (p.Asp862Gly)
c.2453A>G (p.Asp818Gly)
c.2468A>G (p.Asp823Gly)
n.255A>G
c.2570A>G (p.Asp857Gly)
21g.32657114T>GCA319425871SYNJ1c.2585A>C (p.Asp862Ala)
c.2453A>C (p.Asp818Ala)
c.2468A>C (p.Asp823Ala)
n.255A>C
c.2570A>C (p.Asp857Ala)
 dbSNP gnomAD v4
21g.32657114T=CA2386325239SYNJ1c.2585A= (p.Asp862=)
c.2453A= (p.Asp818=)
c.2468A= (p.Asp823=)
n.255A=
c.2570A= (p.Asp857=)
21g.32657115C>ACA319425873SYNJ1c.2584G>T (p.Asp862Tyr)
c.2452G>T (p.Asp818Tyr)
c.2467G>T (p.Asp823Tyr)
n.254G>T
c.2569G>T (p.Asp857Tyr)
 dbSNP gnomAD v4
21g.32657115C=CA2386325240SYNJ1c.2584G= (p.Asp862=)
c.2452G= (p.Asp818=)
c.2467G= (p.Asp823=)
n.254G=
c.2569G= (p.Asp857=)
21g.32657115C>GCA410074740SYNJ1c.2584G>C (p.Asp862His)
c.2452G>C (p.Asp818His)
c.2467G>C (p.Asp823His)
n.254G>C
c.2569G>C (p.Asp857His)
21g.32657115C>TCA410074741SYNJ1c.2584G>A (p.Asp862Asn)
c.2452G>A (p.Asp818Asn)
c.2467G>A (p.Asp823Asn)
n.254G>A
c.2569G>A (p.Asp857Asn)
21g.32657116T>ACA410074742SYNJ1c.2583A>T (p.Glu861Asp)
c.2451A>T (p.Glu817Asp)
c.2466A>T (p.Glu822Asp)
n.253A>T
c.2568A>T (p.Glu856Asp)
21g.32657116T>CCA512332323SYNJ1c.2583A>G (p.Glu861=)
c.2451A>G (p.Glu817=)
c.2466A>G (p.Glu822=)
n.253A>G
c.2568A>G (p.Glu856=)
 gnomAD v4
21g.32657116T>GCA410074743SYNJ1c.2583A>C (p.Glu861Asp)
c.2451A>C (p.Glu817Asp)
c.2466A>C (p.Glu822Asp)
n.253A>C
c.2568A>C (p.Glu856Asp)
21g.32657117T>ACA410074744SYNJ1c.2582A>T (p.Glu861Val)
c.2450A>T (p.Glu817Val)
c.2465A>T (p.Glu822Val)
n.252A>T
c.2567A>T (p.Glu856Val)
21g.32657117T>CCA410074745SYNJ1c.2582A>G (p.Glu861Gly)
c.2450A>G (p.Glu817Gly)
c.2465A>G (p.Glu822Gly)
n.252A>G
c.2567A>G (p.Glu856Gly)
21g.32657117T>GCA410074746SYNJ1c.2582A>C (p.Glu861Ala)
c.2450A>C (p.Glu817Ala)
c.2465A>C (p.Glu822Ala)
n.252A>C
c.2567A>C (p.Glu856Ala)
21g.32657118C>ACA410074747SYNJ1c.2581G>T (p.Glu861Ter)
c.2449G>T (p.Glu817Ter)
c.2464G>T (p.Glu822Ter)
n.251G>T
c.2566G>T (p.Glu856Ter)
21g.32657118C>GCA410074748SYNJ1c.2581G>C (p.Glu861Gln)
c.2449G>C (p.Glu817Gln)
c.2464G>C (p.Glu822Gln)
n.251G>C
c.2566G>C (p.Glu856Gln)
21g.32657118C>TCA410074749SYNJ1c.2581G>A (p.Glu861Lys)
c.2449G>A (p.Glu817Lys)
c.2464G>A (p.Glu822Lys)
n.251G>A
c.2566G>A (p.Glu856Lys)
21g.32657119_32657121delCA2654268260SYNJ1c.2579_2581del
c.2447_2449del
c.2462_2464del
n.249_251del
c.2564_2566del
 gnomAD v4
21g.32657118_32657119insTAACA2654268261SYNJ1c.2580_2581insTTA (p.Ala860_Glu861insLeu)
c.2448_2449insTTA (p.Ala816_Glu817insLeu)
c.2463_2464insTTA (p.Ala821_Glu822insLeu)
n.250_251insTTA
c.2565_2566insTTA (p.Ala855_Glu856insLeu)
 gnomAD v4
21g.32657119A>CCA512332326SYNJ1c.2580T>G (p.Ala860=)
c.2448T>G (p.Ala816=)
c.2463T>G (p.Ala821=)
n.250T>G
c.2565T>G (p.Ala855=)
21g.32657119A>GCA512332325SYNJ1c.2580T>C (p.Ala860=)
c.2448T>C (p.Ala816=)
c.2463T>C (p.Ala821=)
n.250T>C
c.2565T>C (p.Ala855=)
 gnomAD v4
21g.32657119A>TCA512332327SYNJ1c.2580T>A (p.Ala860=)
c.2448T>A (p.Ala816=)
c.2463T>A (p.Ala821=)
n.250T>A
c.2565T>A (p.Ala855=)
21g.32657120G>ACA410074750SYNJ1c.2579C>T (p.Ala860Val)
c.2447C>T (p.Ala816Val)
c.2462C>T (p.Ala821Val)
n.249C>T
c.2564C>T (p.Ala855Val)
21g.32657120G>CCA410074751SYNJ1c.2579C>G (p.Ala860Gly)
c.2447C>G (p.Ala816Gly)
c.2462C>G (p.Ala821Gly)
n.249C>G
c.2564C>G (p.Ala855Gly)
21g.32657120G>TCA410074752SYNJ1c.2579C>A (p.Ala860Asp)
c.2447C>A (p.Ala816Asp)
c.2462C>A (p.Ala821Asp)
n.249C>A
c.2564C>A (p.Ala855Asp)
 gnomAD v4
21g.32657121C>ACA410074753SYNJ1c.2579-1G>T (n.2579-1G>T)
c.2447-1G>T (n.2447-1G>T)
c.2462-1G>T (n.2462-1G>T)
n.249-1G>T
c.2564-1G>T (n.2564-1G>T)
21g.32657121C=CA2386325241SYNJ1c.2579-1G= (n.2579-1G=)
c.2447-1G= (n.2447-1G=)
c.2462-1G= (n.2462-1G=)
n.249-1G=
c.2564-1G= (n.2564-1G=)
21g.32657121C>GCA410074754SYNJ1c.2579-1G>C (n.2579-1G>C)
c.2447-1G>C (n.2447-1G>C)
c.2462-1G>C (n.2462-1G>C)
n.249-1G>C
c.2564-1G>C (n.2564-1G>C)
21g.32657121C>TCA10003653SYNJ1c.2579-1G>A (n.2579-1G>A)
c.2447-1G>A (n.2447-1G>A)
c.2462-1G>A (n.2462-1G>A)
n.249-1G>A
c.2564-1G>A (n.2564-1G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657122T>ACA410074755SYNJ1c.2579-2A>T (n.2579-2A>T)
c.2447-2A>T (n.2447-2A>T)
c.2462-2A>T (n.2462-2A>T)
n.249-2A>T
c.2564-2A>T (n.2564-2A>T)
21g.32657122T>CCA410074757SYNJ1c.2579-2A>G (n.2579-2A>G)
c.2447-2A>G (n.2447-2A>G)
c.2462-2A>G (n.2462-2A>G)
n.249-2A>G
c.2564-2A>G (n.2564-2A>G)
 gnomAD v4
21g.32657122T>GCA410074756SYNJ1c.2579-2A>C (n.2579-2A>C)
c.2447-2A>C (n.2447-2A>C)
c.2462-2A>C (n.2462-2A>C)
n.249-2A>C
c.2564-2A>C (n.2564-2A>C)
 gnomAD v4
21g.32657123G>ACA748730363SYNJ1c.2579-3C>T (n.2579-3C>T)
c.2447-3C>T (n.2447-3C>T)
c.2462-3C>T (n.2462-3C>T)
n.249-3C>T
c.2564-3C>T (n.2564-3C>T)
 dbSNP gnomAD v4
21g.32657123G=CA2386325242SYNJ1c.2579-3C= (n.2579-3C=)
c.2447-3C= (n.2447-3C=)
c.2462-3C= (n.2462-3C=)
n.249-3C=
c.2564-3C= (n.2564-3C=)
21g.32657123G>TCA638052308SYNJ1c.2579-3C>A (n.2579-3C>A)
c.2447-3C>A (n.2447-3C>A)
c.2462-3C>A (n.2462-3C>A)
n.249-3C>A
c.2564-3C>A (n.2564-3C>A)
 dbSNP gnomAD v2 gnomAD v4
21g.32657123_32657133delCA2654268262SYNJ1c.2579-13_2579-3del (n.2579-13_2579-3del)
c.2447-13_2447-3del (n.2447-13_2447-3del)
c.2462-13_2462-3del (n.2462-13_2462-3del)
n.249-13_249-3del
c.2564-13_2564-3del (n.2564-13_2564-3del)
 gnomAD v4
21g.32657124C=CA2386325243SYNJ1c.2579-4G= (n.2579-4G=)
c.2447-4G= (n.2447-4G=)
c.2462-4G= (n.2462-4G=)
n.249-4G=
c.2564-4G= (n.2564-4G=)
21g.32657124C>GCA2507079805SYNJ1c.2579-4G>C (n.2579-4G>C)
c.2447-4G>C (n.2447-4G>C)
c.2462-4G>C (n.2462-4G>C)
n.249-4G>C
c.2564-4G>C (n.2564-4G>C)
21g.32657124C>TCA10003654SYNJ1c.2579-4G>A (n.2579-4G>A)
c.2447-4G>A (n.2447-4G>A)
c.2462-4G>A (n.2462-4G>A)
n.249-4G>A
c.2564-4G>A (n.2564-4G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657125A>GCA2580098562SYNJ1c.2579-5T>C (n.2579-5T>C)
c.2447-5T>C (n.2447-5T>C)
c.2462-5T>C (n.2462-5T>C)
n.249-5T>C
c.2564-5T>C (n.2564-5T>C)
 ClinVar
21g.32657126G>ACA2654268263SYNJ1c.2579-6C>T (n.2579-6C>T)
c.2447-6C>T (n.2447-6C>T)
c.2462-6C>T (n.2462-6C>T)
n.249-6C>T
c.2564-6C>T (n.2564-6C>T)
 gnomAD v4
21g.32657126G=CA2386325244SYNJ1c.2579-6C= (n.2579-6C=)
c.2447-6C= (n.2447-6C=)
c.2462-6C= (n.2462-6C=)
n.249-6C=
c.2564-6C= (n.2564-6C=)
21g.32657126G>TCA915952593SYNJ1c.2579-6C>A (n.2579-6C>A)
c.2447-6C>A (n.2447-6C>A)
c.2462-6C>A (n.2462-6C>A)
n.249-6C>A
c.2564-6C>A (n.2564-6C>A)
 ClinVar dbSNP gnomAD v4
21g.32657128C>ACA2654268264SYNJ1c.2579-8G>T (n.2579-8G>T)
c.2447-8G>T (n.2447-8G>T)
c.2462-8G>T (n.2462-8G>T)
n.249-8G>T
c.2564-8G>T (n.2564-8G>T)
 gnomAD v4
21g.32657128C>TCA2654268265SYNJ1c.2579-8G>A (n.2579-8G>A)
c.2447-8G>A (n.2447-8G>A)
c.2462-8G>A (n.2462-8G>A)
n.249-8G>A
c.2564-8G>A (n.2564-8G>A)
 gnomAD v4
21g.32657130G>CCA10003656SYNJ1c.2579-10C>G (n.2579-10C>G)
c.2447-10C>G (n.2447-10C>G)
c.2462-10C>G (n.2462-10C>G)
n.249-10C>G
c.2564-10C>G (n.2564-10C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657130G=CA2386325246SYNJ1c.2579-10C= (n.2579-10C=)
c.2447-10C= (n.2447-10C=)
c.2462-10C= (n.2462-10C=)
n.249-10C=
c.2564-10C= (n.2564-10C=)
21g.32657130G>TCA2654268266SYNJ1c.2579-10C>A (n.2579-10C>A)
c.2447-10C>A (n.2447-10C>A)
c.2462-10C>A (n.2462-10C>A)
n.249-10C>A
c.2564-10C>A (n.2564-10C>A)
 gnomAD v4
21g.32657130_32657132delinsGAACA2386325245SYNJ1c.2579-12_2579-10delinsTTC (n.2579-12_2579-10delinsTTC)
c.2447-12_2447-10delinsTTC (n.2447-12_2447-10delinsTTC)
c.2462-12_2462-10delinsTTC (n.2462-12_2462-10delinsTTC)
n.249-12_249-10delinsTTC
c.2564-12_2564-10delinsTTC (n.2564-12_2564-10delinsTTC)
21g.32657131_32657132delCA10003655SYNJ1c.2579-12_2579-11del (n.2579-12_2579-11del)
c.2447-12_2447-11del (n.2447-12_2447-11del)
c.2462-12_2462-11del (n.2462-12_2462-11del)
n.249-12_249-11del
c.2564-12_2564-11del (n.2564-12_2564-11del)
 dbSNP ExAC gnomAD v2 gnomAD v4
21g.32657133G>ACA2817728798SYNJ1c.2579-13C>T (n.2579-13C>T)
c.2447-13C>T (n.2447-13C>T)
c.2462-13C>T (n.2462-13C>T)
n.249-13C>T
c.2564-13C>T (n.2564-13C>T)
21g.32657133G>TCA2654268267SYNJ1c.2579-13C>A (n.2579-13C>A)
c.2447-13C>A (n.2447-13C>A)
c.2462-13C>A (n.2462-13C>A)
n.249-13C>A
c.2564-13C>A (n.2564-13C>A)
 gnomAD v4
21g.32657137T>ACA2654268268SYNJ1c.2579-17A>T (n.2579-17A>T)
c.2447-17A>T (n.2447-17A>T)
c.2462-17A>T (n.2462-17A>T)
n.249-17A>T
c.2564-17A>T (n.2564-17A>T)
 gnomAD v4
21g.32657138G=CA2386325247SYNJ1c.2579-18C= (n.2579-18C=)
c.2447-18C= (n.2447-18C=)
c.2462-18C= (n.2462-18C=)
n.249-18C=
c.2564-18C= (n.2564-18C=)
21g.32657138G>TCA10003657SYNJ1c.2579-18C>A (n.2579-18C>A)
c.2447-18C>A (n.2447-18C>A)
c.2462-18C>A (n.2462-18C>A)
n.249-18C>A
c.2564-18C>A (n.2564-18C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
21g.32657139A>GCA2573157388SYNJ1c.2579-19T>C (n.2579-19T>C)
c.2447-19T>C (n.2447-19T>C)
c.2462-19T>C (n.2462-19T>C)
n.249-19T>C
c.2564-19T>C (n.2564-19T>C)
 ClinVar dbSNP gnomAD v4
21g.32657143C>TCA2577476219SYNJ1c.2579-23G>A (n.2579-23G>A)
c.2447-23G>A (n.2447-23G>A)
c.2462-23G>A (n.2462-23G>A)
n.249-23G>A
c.2564-23G>A (n.2564-23G>A)

Number of alleles fetched