Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
21 | g.32657042A>C | CA410074305 | SYNJ1 | c.2657T>G (p.Leu886Arg) c.2525T>G (p.Leu842Arg) c.2540T>G (p.Leu847Arg) n.327T>G c.2642T>G (p.Leu881Arg) | |
21 | g.32657042A>G | CA410074303 | SYNJ1 | c.2657T>C (p.Leu886Pro) c.2525T>C (p.Leu842Pro) c.2540T>C (p.Leu847Pro) n.327T>C c.2642T>C (p.Leu881Pro) | |
21 | g.32657042A>T | CA410074307 | SYNJ1 | c.2657T>A (p.Leu886Gln) c.2525T>A (p.Leu842Gln) c.2540T>A (p.Leu847Gln) n.327T>A c.2642T>A (p.Leu881Gln) | |
21 | g.32657043G>A | CA512332232 | SYNJ1 | c.2656C>T (p.Leu886=) c.2524C>T (p.Leu842=) c.2539C>T (p.Leu847=) n.326C>T c.2641C>T (p.Leu881=) | |
21 | g.32657043G>C | CA410074310 | SYNJ1 | c.2656C>G (p.Leu886Val) c.2524C>G (p.Leu842Val) c.2539C>G (p.Leu847Val) n.326C>G c.2641C>G (p.Leu881Val) | |
21 | g.32657043G>T | CA410074311 | SYNJ1 | c.2656C>A (p.Leu886Met) c.2524C>A (p.Leu842Met) c.2539C>A (p.Leu847Met) n.326C>A c.2641C>A (p.Leu881Met) | |
21 | g.32657044C>A | CA410074314 | SYNJ1 | c.2655G>T (p.Leu885Phe) c.2523G>T (p.Leu841Phe) c.2538G>T (p.Leu846Phe) n.325G>T c.2640G>T (p.Leu880Phe) | |
21 | g.32657044C>G | CA410074316 | SYNJ1 | c.2655G>C (p.Leu885Phe) c.2523G>C (p.Leu841Phe) c.2538G>C (p.Leu846Phe) n.325G>C c.2640G>C (p.Leu880Phe) | |
21 | g.32657044C>T | CA512332233 | SYNJ1 | c.2655G>A (p.Leu885=) c.2523G>A (p.Leu841=) c.2538G>A (p.Leu846=) n.325G>A c.2640G>A (p.Leu880=) | |
21 | g.32657045A>C | CA410074319 | SYNJ1 | c.2654T>G (p.Leu885Trp) c.2522T>G (p.Leu841Trp) c.2537T>G (p.Leu846Trp) n.324T>G c.2639T>G (p.Leu880Trp) | |
21 | g.32657045A>G | CA410074320 | SYNJ1 | c.2654T>C (p.Leu885Ser) c.2522T>C (p.Leu841Ser) c.2537T>C (p.Leu846Ser) n.324T>C c.2639T>C (p.Leu880Ser) | |
21 | g.32657045A>T | CA410074321 | SYNJ1 | c.2654T>A (p.Leu885Ter) c.2522T>A (p.Leu841Ter) c.2537T>A (p.Leu846Ter) n.324T>A c.2639T>A (p.Leu880Ter) | |
21 | g.32657047dup | CA645606521 | SYNJ1 | c.2654dup (p.Leu885PhefsTer8) c.2522dup (p.Leu841PhefsTer8) c.2537dup (p.Leu846PhefsTer8) n.324dup c.2639dup (p.Leu880PhefsTer8) | COSMIC COSMIC |
21 | g.32657046A>C | CA410074322 | SYNJ1 | c.2653T>G (p.Leu885Val) c.2521T>G (p.Leu841Val) c.2536T>G (p.Leu846Val) n.323T>G c.2638T>G (p.Leu880Val) | |
21 | g.32657046A>G | CA512332234 | SYNJ1 | c.2653T>C (p.Leu885=) c.2521T>C (p.Leu841=) c.2536T>C (p.Leu846=) n.323T>C c.2638T>C (p.Leu880=) | |
21 | g.32657046A>T | CA410074323 | SYNJ1 | c.2653T>A (p.Leu885Met) c.2521T>A (p.Leu841Met) c.2536T>A (p.Leu846Met) n.323T>A c.2638T>A (p.Leu880Met) | |
21 | g.32657047A= | CA2386325211 | SYNJ1 | c.2652T= (p.Thr884=) c.2520T= (p.Thr840=) c.2535T= (p.Thr845=) n.322T= c.2637T= (p.Thr879=) | |
21 | g.32657047A>C | CA512332235 | SYNJ1 | c.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 |
21 | g.32657047A>G | CA512332236 | SYNJ1 | c.2652T>C (p.Thr884=) c.2520T>C (p.Thr840=) c.2535T>C (p.Thr845=) n.322T>C c.2637T>C (p.Thr879=) | |
21 | g.32657047A>T | CA512332237 | SYNJ1 | c.2652T>A (p.Thr884=) c.2520T>A (p.Thr840=) c.2535T>A (p.Thr845=) n.322T>A c.2637T>A (p.Thr879=) | |
21 | g.32657048G>A | CA410074326 | SYNJ1 | c.2651C>T (p.Thr884Ile) c.2519C>T (p.Thr840Ile) c.2534C>T (p.Thr845Ile) n.321C>T c.2636C>T (p.Thr879Ile) | |
21 | g.32657048G>C | CA410074328 | SYNJ1 | c.2651C>G (p.Thr884Ser) c.2519C>G (p.Thr840Ser) c.2534C>G (p.Thr845Ser) n.321C>G c.2636C>G (p.Thr879Ser) | |
21 | g.32657048G>T | CA410074330 | SYNJ1 | c.2651C>A (p.Thr884Asn) c.2519C>A (p.Thr840Asn) c.2534C>A (p.Thr845Asn) n.321C>A c.2636C>A (p.Thr879Asn) | |
21 | g.32657049T>A | CA410074338 | SYNJ1 | c.2650A>T (p.Thr884Ser) c.2518A>T (p.Thr840Ser) c.2533A>T (p.Thr845Ser) n.320A>T c.2635A>T (p.Thr879Ser) | |
21 | g.32657049T>C | CA410074336 | SYNJ1 | c.2650A>G (p.Thr884Ala) c.2518A>G (p.Thr840Ala) c.2533A>G (p.Thr845Ala) n.320A>G c.2635A>G (p.Thr879Ala) | dbSNP |
21 | g.32657049T>G | CA410074334 | SYNJ1 | c.2650A>C (p.Thr884Pro) c.2518A>C (p.Thr840Pro) c.2533A>C (p.Thr845Pro) n.320A>C c.2635A>C (p.Thr879Pro) | |
21 | g.32657049T= | CA2386325212 | SYNJ1 | c.2650A= (p.Thr884=) c.2518A= (p.Thr840=) c.2533A= (p.Thr845=) n.320A= c.2635A= (p.Thr879=) | |
21 | g.32657050G>A | CA512332239 | SYNJ1 | c.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 |
21 | g.32657050G>C | CA512332240 | SYNJ1 | c.2649C>G (p.Gly883=) c.2517C>G (p.Gly839=) c.2532C>G (p.Gly844=) n.319C>G c.2634C>G (p.Gly878=) | |
21 | g.32657050G= | CA2386325213 | SYNJ1 | c.2649C= (p.Gly883=) c.2517C= (p.Gly839=) c.2532C= (p.Gly844=) n.319C= c.2634C= (p.Gly878=) | |
21 | g.32657050G>T | CA512332238 | SYNJ1 | c.2649C>A (p.Gly883=) c.2517C>A (p.Gly839=) c.2532C>A (p.Gly844=) n.319C>A c.2634C>A (p.Gly878=) | |
21 | g.32657051C>A | CA410074341 | SYNJ1 | c.2648G>T (p.Gly883Val) c.2516G>T (p.Gly839Val) c.2531G>T (p.Gly844Val) n.318G>T c.2633G>T (p.Gly878Val) | |
21 | g.32657051C= | CA2386325214 | SYNJ1 | c.2648G= (p.Gly883=) c.2516G= (p.Gly839=) c.2531G= (p.Gly844=) n.318G= c.2633G= (p.Gly878=) | |
21 | g.32657051C>G | CA410074344 | SYNJ1 | c.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 |
21 | g.32657051C>T | CA410074346 | SYNJ1 | c.2648G>A (p.Gly883Asp) c.2516G>A (p.Gly839Asp) c.2531G>A (p.Gly844Asp) n.318G>A c.2633G>A (p.Gly878Asp) | |
21 | g.32657052C>A | CA410074349 | SYNJ1 | c.2647G>T (p.Gly883Cys) c.2515G>T (p.Gly839Cys) c.2530G>T (p.Gly844Cys) n.317G>T c.2632G>T (p.Gly878Cys) | COSMIC COSMIC |
21 | g.32657052C>G | CA410074351 | SYNJ1 | c.2647G>C (p.Gly883Arg) c.2515G>C (p.Gly839Arg) c.2530G>C (p.Gly844Arg) n.317G>C c.2632G>C (p.Gly878Arg) | |
21 | g.32657052C>T | CA410074353 | SYNJ1 | c.2647G>A (p.Gly883Ser) c.2515G>A (p.Gly839Ser) c.2530G>A (p.Gly844Ser) n.317G>A c.2632G>A (p.Gly878Ser) | |
21 | g.32657053T>A | CA512332244 | SYNJ1 | c.2646A>T (p.Pro882=) c.2514A>T (p.Pro838=) c.2529A>T (p.Pro843=) n.316A>T c.2631A>T (p.Pro877=) | |
21 | g.32657053T>C | CA512332245 | SYNJ1 | c.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 |
21 | g.32657053T>G | CA512332246 | SYNJ1 | c.2646A>C (p.Pro882=) c.2514A>C (p.Pro838=) c.2529A>C (p.Pro843=) n.316A>C c.2631A>C (p.Pro877=) | ClinVar dbSNP |
21 | g.32657053T= | CA2386325215 | SYNJ1 | c.2646A= (p.Pro882=) c.2514A= (p.Pro838=) c.2529A= (p.Pro843=) n.316A= c.2631A= (p.Pro877=) | |
21 | g.32657053_32657054delinsTG | CA2386325216 | SYNJ1 | c.2645_2646delinsCA (p.Pro882=) c.2513_2514delinsCA (p.Pro838=) c.2528_2529delinsCA (p.Pro843=) n.315_316delinsCA c.2630_2631delinsCA (p.Pro877=) | |
21 | g.32657054G>A | CA410074356 | SYNJ1 | c.2645C>T (p.Pro882Leu) c.2513C>T (p.Pro838Leu) c.2528C>T (p.Pro843Leu) n.315C>T c.2630C>T (p.Pro877Leu) | |
21 | g.32657054G>C | CA410074358 | SYNJ1 | c.2645C>G (p.Pro882Arg) c.2513C>G (p.Pro838Arg) c.2528C>G (p.Pro843Arg) n.315C>G c.2630C>G (p.Pro877Arg) | |
21 | g.32657054G>T | CA410074360 | SYNJ1 | c.2645C>A (p.Pro882Gln) c.2513C>A (p.Pro838Gln) c.2528C>A (p.Pro843Gln) n.315C>A c.2630C>A (p.Pro877Gln) | |
21 | g.32657055del | CA748730226 | SYNJ1 | c.2645del (p.Pro882GlnfsTer12) c.2513del (p.Pro838GlnfsTer12) c.2528del (p.Pro843GlnfsTer12) n.315del c.2630del (p.Pro877GlnfsTer12) | dbSNP |
21 | g.32657055G>A | CA410074363 | SYNJ1 | c.2644C>T (p.Pro882Ser) c.2512C>T (p.Pro838Ser) c.2527C>T (p.Pro843Ser) n.314C>T c.2629C>T (p.Pro877Ser) | |
21 | g.32657055G>C | CA410074365 | SYNJ1 | c.2644C>G (p.Pro882Ala) c.2512C>G (p.Pro838Ala) c.2527C>G (p.Pro843Ala) n.314C>G c.2629C>G (p.Pro877Ala) | ClinVar dbSNP |
21 | g.32657055G= | CA2386325217 | SYNJ1 | c.2644C= (p.Pro882=) c.2512C= (p.Pro838=) c.2527C= (p.Pro843=) n.314C= c.2629C= (p.Pro877=) | |
21 | g.32657055G>T | CA410074367 | SYNJ1 | c.2644C>A (p.Pro882Thr) c.2512C>A (p.Pro838Thr) c.2527C>A (p.Pro843Thr) n.314C>A c.2629C>A (p.Pro877Thr) | |
21 | g.32657056A>C | CA512332250 | SYNJ1 | c.2643T>G (p.Thr881=) c.2511T>G (p.Thr837=) c.2526T>G (p.Thr842=) n.313T>G c.2628T>G (p.Thr876=) | |
21 | g.32657056A>G | CA512332251 | SYNJ1 | c.2643T>C (p.Thr881=) c.2511T>C (p.Thr837=) c.2526T>C (p.Thr842=) n.313T>C c.2628T>C (p.Thr876=) | gnomAD v4 |
21 | g.32657056A>T | CA512332252 | SYNJ1 | c.2643T>A (p.Thr881=) c.2511T>A (p.Thr837=) c.2526T>A (p.Thr842=) n.313T>A c.2628T>A (p.Thr876=) | |
21 | g.32657057G>A | CA10003641 | SYNJ1 | c.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 |
21 | g.32657057G>C | CA410074373 | SYNJ1 | c.2642C>G (p.Thr881Ser) c.2510C>G (p.Thr837Ser) c.2525C>G (p.Thr842Ser) n.312C>G c.2627C>G (p.Thr876Ser) | |
21 | g.32657057G= | CA2386325218 | SYNJ1 | c.2642C= (p.Thr881=) c.2510C= (p.Thr837=) c.2525C= (p.Thr842=) n.312C= c.2627C= (p.Thr876=) | |
21 | g.32657057G>T | CA10003642 | SYNJ1 | c.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 |
21 | g.32657058T>A | CA410074374 | SYNJ1 | c.2641A>T (p.Thr881Ser) c.2509A>T (p.Thr837Ser) c.2524A>T (p.Thr842Ser) n.311A>T c.2626A>T (p.Thr876Ser) | |
21 | g.32657058T>C | CA10003643 | SYNJ1 | c.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 |
21 | g.32657058T>G | CA410074377 | SYNJ1 | c.2641A>C (p.Thr881Pro) c.2509A>C (p.Thr837Pro) c.2524A>C (p.Thr842Pro) n.311A>C c.2626A>C (p.Thr876Pro) | |
21 | g.32657058T= | CA2386325219 | SYNJ1 | c.2641A= (p.Thr881=) c.2509A= (p.Thr837=) c.2524A= (p.Thr842=) n.311A= c.2626A= (p.Thr876=) | |
21 | g.32657058_32657061delinsTCCA | CA2386325220 | SYNJ1 | c.2638_2641delinsTGGA (p.Trp880=) c.2506_2509delinsTGGA (p.Trp836=) c.2521_2524delinsTGGA (p.Trp841=) n.308_311delinsTGGA c.2623_2626delinsTGGA (p.Trp875=) | |
21 | g.32657059C>A | CA410074381 | SYNJ1 | c.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 |
21 | g.32657059C>G | CA410074383 | SYNJ1 | c.2640G>C (p.Trp880Cys) c.2508G>C (p.Trp836Cys) c.2523G>C (p.Trp841Cys) n.310G>C c.2625G>C (p.Trp875Cys) | |
21 | g.32657059C>T | CA410074389 | SYNJ1 | c.2640G>A (p.Trp880Ter) c.2508G>A (p.Trp836Ter) c.2523G>A (p.Trp841Ter) n.310G>A c.2625G>A (p.Trp875Ter) | gnomAD v4 |
21 | g.32657060_32657062del | CA638052307 | SYNJ1 | c.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 |
21 | g.32657060C>A | CA410074398 | SYNJ1 | c.2639G>T (p.Trp880Leu) c.2507G>T (p.Trp836Leu) c.2522G>T (p.Trp841Leu) n.309G>T c.2624G>T (p.Trp875Leu) | |
21 | g.32657060C>G | CA410074394 | SYNJ1 | c.2639G>C (p.Trp880Ser) c.2507G>C (p.Trp836Ser) c.2522G>C (p.Trp841Ser) n.309G>C c.2624G>C (p.Trp875Ser) | |
21 | g.32657060C>T | CA410074396 | SYNJ1 | c.2639G>A (p.Trp880Ter) c.2507G>A (p.Trp836Ter) c.2522G>A (p.Trp841Ter) n.309G>A c.2624G>A (p.Trp875Ter) | |
21 | g.32657061A>C | CA410074400 | SYNJ1 | c.2638T>G (p.Trp880Gly) c.2506T>G (p.Trp836Gly) c.2521T>G (p.Trp841Gly) n.308T>G c.2623T>G (p.Trp875Gly) | |
21 | g.32657061A>G | CA410074402 | SYNJ1 | c.2638T>C (p.Trp880Arg) c.2506T>C (p.Trp836Arg) c.2521T>C (p.Trp841Arg) n.308T>C c.2623T>C (p.Trp875Arg) | |
21 | g.32657061A>T | CA410074404 | SYNJ1 | c.2638T>A (p.Trp880Arg) c.2506T>A (p.Trp836Arg) c.2521T>A (p.Trp841Arg) n.308T>A c.2623T>A (p.Trp875Arg) | |
21 | g.32657061_32657065del | CA2654268217 | SYNJ1 | c.2634_2638del (p.Tyr878Ter) c.2502_2506del (p.Tyr834Ter) c.2517_2521del (p.Tyr839Ter) n.304_308del c.2619_2623del (p.Tyr873Ter) | gnomAD v4 |
21 | g.32657062C>A | CA10003645 | SYNJ1 | c.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 |
21 | g.32657062C= | CA2386325221 | SYNJ1 | c.2637G= (p.Thr879=) c.2505G= (p.Thr835=) c.2520G= (p.Thr840=) n.307G= c.2622G= (p.Thr874=) | |
21 | g.32657062C>G | CA512332258 | SYNJ1 | c.2637G>C (p.Thr879=) c.2505G>C (p.Thr835=) c.2520G>C (p.Thr840=) n.307G>C c.2622G>C (p.Thr874=) | |
21 | g.32657062C>T | CA10003644 | SYNJ1 | c.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 |
21 | g.32657063G>A | CA10003646 | SYNJ1 | c.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 |
21 | g.32657063G>C | CA410074415 | SYNJ1 | c.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 |
21 | g.32657063G= | CA2386325222 | SYNJ1 | c.2636C= (p.Thr879=) c.2504C= (p.Thr835=) c.2519C= (p.Thr840=) n.306C= c.2621C= (p.Thr874=) | |
21 | g.32657063G>T | CA410074413 | SYNJ1 | c.2636C>A (p.Thr879Lys) c.2504C>A (p.Thr835Lys) c.2519C>A (p.Thr840Lys) n.306C>A c.2621C>A (p.Thr874Lys) | |
21 | g.32657064T>A | CA410074417 | SYNJ1 | c.2635A>T (p.Thr879Ser) c.2503A>T (p.Thr835Ser) c.2518A>T (p.Thr840Ser) n.305A>T c.2620A>T (p.Thr874Ser) | |
21 | g.32657064T>C | CA410074419 | SYNJ1 | c.2635A>G (p.Thr879Ala) c.2503A>G (p.Thr835Ala) c.2518A>G (p.Thr840Ala) n.305A>G c.2620A>G (p.Thr874Ala) | |
21 | g.32657064T>G | CA410074420 | SYNJ1 | c.2635A>C (p.Thr879Pro) c.2503A>C (p.Thr835Pro) c.2518A>C (p.Thr840Pro) n.305A>C c.2620A>C (p.Thr874Pro) | |
21 | g.32657065G>A | CA512332260 | SYNJ1 | c.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 |
21 | g.32657065G>C | CA410074422 | SYNJ1 | c.2634C>G (p.Tyr878Ter) c.2502C>G (p.Tyr834Ter) c.2517C>G (p.Tyr839Ter) n.304C>G c.2619C>G (p.Tyr873Ter) | |
21 | g.32657065G= | CA2386325223 | SYNJ1 | c.2634C= (p.Tyr878=) c.2502C= (p.Tyr834=) c.2517C= (p.Tyr839=) n.304C= c.2619C= (p.Tyr873=) | |
21 | g.32657065G>T | CA410074424 | SYNJ1 | c.2634C>A (p.Tyr878Ter) c.2502C>A (p.Tyr834Ter) c.2517C>A (p.Tyr839Ter) n.304C>A c.2619C>A (p.Tyr873Ter) | |
21 | g.32657066T>A | CA410074432 | SYNJ1 | c.2633A>T (p.Tyr878Phe) c.2501A>T (p.Tyr834Phe) c.2516A>T (p.Tyr839Phe) n.303A>T c.2618A>T (p.Tyr873Phe) | |
21 | g.32657066T>C | CA410074434 | SYNJ1 | c.2633A>G (p.Tyr878Cys) c.2501A>G (p.Tyr834Cys) c.2516A>G (p.Tyr839Cys) n.303A>G c.2618A>G (p.Tyr873Cys) | gnomAD v4 |
21 | g.32657066T>G | CA410074437 | SYNJ1 | c.2633A>C (p.Tyr878Ser) c.2501A>C (p.Tyr834Ser) c.2516A>C (p.Tyr839Ser) n.303A>C c.2618A>C (p.Tyr873Ser) | |
21 | g.32657067A= | CA2386325224 | SYNJ1 | c.2632T= (p.Tyr878=) c.2500T= (p.Tyr834=) c.2515T= (p.Tyr839=) n.302T= c.2617T= (p.Tyr873=) | |
21 | g.32657067A>C | CA410074441 | SYNJ1 | c.2632T>G (p.Tyr878Asp) c.2500T>G (p.Tyr834Asp) c.2515T>G (p.Tyr839Asp) n.302T>G c.2617T>G (p.Tyr873Asp) | |
21 | g.32657067A>G | CA410074443 | SYNJ1 | c.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 |
21 | g.32657067A>T | CA410074445 | SYNJ1 | c.2632T>A (p.Tyr878Asn) c.2500T>A (p.Tyr834Asn) c.2515T>A (p.Tyr839Asn) n.302T>A c.2617T>A (p.Tyr873Asn) | |
21 | g.32657068C>A | CA512332264 | SYNJ1 | c.2631G>T (p.Leu877=) c.2499G>T (p.Leu833=) c.2514G>T (p.Leu838=) n.301G>T c.2616G>T (p.Leu872=) | |
21 | g.32657068C= | CA2386325225 | SYNJ1 | c.2631G= (p.Leu877=) c.2499G= (p.Leu833=) c.2514G= (p.Leu838=) n.301G= c.2616G= (p.Leu872=) | |
21 | g.32657068C>G | CA512332265 | SYNJ1 | c.2631G>C (p.Leu877=) c.2499G>C (p.Leu833=) c.2514G>C (p.Leu838=) n.301G>C c.2616G>C (p.Leu872=) | ClinVar dbSNP |
21 | g.32657068C>T | CA512332266 | SYNJ1 | c.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 |
21 | g.32657069A>C | CA410074451 | SYNJ1 | c.2630T>G (p.Leu877Arg) c.2498T>G (p.Leu833Arg) c.2513T>G (p.Leu838Arg) n.300T>G c.2615T>G (p.Leu872Arg) | |
21 | g.32657069A>G | CA410074450 | SYNJ1 | c.2630T>C (p.Leu877Pro) c.2498T>C (p.Leu833Pro) c.2513T>C (p.Leu838Pro) n.300T>C c.2615T>C (p.Leu872Pro) | |
21 | g.32657069A>T | CA410074448 | SYNJ1 | c.2630T>A (p.Leu877Gln) c.2498T>A (p.Leu833Gln) c.2513T>A (p.Leu838Gln) n.300T>A c.2615T>A (p.Leu872Gln) | |
21 | g.32657070G>A | CA512332267 | SYNJ1 | c.2629C>T (p.Leu877=) c.2497C>T (p.Leu833=) c.2512C>T (p.Leu838=) n.299C>T c.2614C>T (p.Leu872=) | gnomAD v4 |
21 | g.32657070G>C | CA410074454 | SYNJ1 | c.2629C>G (p.Leu877Val) c.2497C>G (p.Leu833Val) c.2512C>G (p.Leu838Val) n.299C>G c.2614C>G (p.Leu872Val) | |
21 | g.32657070G>T | CA410074456 | SYNJ1 | c.2629C>A (p.Leu877Met) c.2497C>A (p.Leu833Met) c.2512C>A (p.Leu838Met) n.299C>A c.2614C>A (p.Leu872Met) | |
21 | g.32657071A>C | CA410074460 | SYNJ1 | c.2628T>G (p.Ile876Met) c.2496T>G (p.Ile832Met) c.2511T>G (p.Ile837Met) n.298T>G c.2613T>G (p.Ile871Met) | gnomAD v4 |
21 | g.32657071A>G | CA512332269 | SYNJ1 | c.2628T>C (p.Ile876=) c.2496T>C (p.Ile832=) c.2511T>C (p.Ile837=) n.298T>C c.2613T>C (p.Ile871=) | |
21 | g.32657071A>T | CA512332270 | SYNJ1 | c.2628T>A (p.Ile876=) c.2496T>A (p.Ile832=) c.2511T>A (p.Ile837=) n.298T>A c.2613T>A (p.Ile871=) | |
21 | g.32657072A>C | CA410074463 | SYNJ1 | c.2627T>G (p.Ile876Ser) c.2495T>G (p.Ile832Ser) c.2510T>G (p.Ile837Ser) n.297T>G c.2612T>G (p.Ile871Ser) | |
21 | g.32657072A>G | CA410074465 | SYNJ1 | c.2627T>C (p.Ile876Thr) c.2495T>C (p.Ile832Thr) c.2510T>C (p.Ile837Thr) n.297T>C c.2612T>C (p.Ile871Thr) | |
21 | g.32657072A>T | CA410074467 | SYNJ1 | c.2627T>A (p.Ile876Asn) c.2495T>A (p.Ile832Asn) c.2510T>A (p.Ile837Asn) n.297T>A c.2612T>A (p.Ile871Asn) | |
21 | g.32657073T>A | CA410074472 | SYNJ1 | c.2626A>T (p.Ile876Phe) c.2494A>T (p.Ile832Phe) c.2509A>T (p.Ile837Phe) n.296A>T c.2611A>T (p.Ile871Phe) | |
21 | g.32657073T>C | CA410074474 | SYNJ1 | c.2626A>G (p.Ile876Val) c.2494A>G (p.Ile832Val) c.2509A>G (p.Ile837Val) n.296A>G c.2611A>G (p.Ile871Val) | |
21 | g.32657073T>G | CA410074477 | SYNJ1 | c.2626A>C (p.Ile876Leu) c.2494A>C (p.Ile832Leu) c.2509A>C (p.Ile837Leu) n.296A>C c.2611A>C (p.Ile871Leu) | gnomAD v4 |
21 | g.32657074T>A | CA410074480 | SYNJ1 | c.2625A>T (p.Lys875Asn) c.2493A>T (p.Lys831Asn) c.2508A>T (p.Lys836Asn) n.295A>T c.2610A>T (p.Lys870Asn) | |
21 | g.32657074T>C | CA512332272 | SYNJ1 | c.2625A>G (p.Lys875=) c.2493A>G (p.Lys831=) c.2508A>G (p.Lys836=) n.295A>G c.2610A>G (p.Lys870=) | |
21 | g.32657074T>G | CA410074481 | SYNJ1 | c.2625A>C (p.Lys875Asn) c.2493A>C (p.Lys831Asn) c.2508A>C (p.Lys836Asn) n.295A>C c.2610A>C (p.Lys870Asn) | |
21 | g.32657075T>A | CA410074483 | SYNJ1 | c.2624A>T (p.Lys875Ile) c.2492A>T (p.Lys831Ile) c.2507A>T (p.Lys836Ile) n.294A>T c.2609A>T (p.Lys870Ile) | |
21 | g.32657075T>C | CA410074486 | SYNJ1 | c.2624A>G (p.Lys875Arg) c.2492A>G (p.Lys831Arg) c.2507A>G (p.Lys836Arg) n.294A>G c.2609A>G (p.Lys870Arg) | |
21 | g.32657075T>G | CA410074488 | SYNJ1 | c.2624A>C (p.Lys875Thr) c.2492A>C (p.Lys831Thr) c.2507A>C (p.Lys836Thr) n.294A>C c.2609A>C (p.Lys870Thr) | |
21 | g.32657076T>A | CA410074490 | SYNJ1 | c.2623A>T (p.Lys875Ter) c.2491A>T (p.Lys831Ter) c.2506A>T (p.Lys836Ter) n.293A>T c.2608A>T (p.Lys870Ter) | |
21 | g.32657076T>C | CA410074494 | SYNJ1 | c.2623A>G (p.Lys875Glu) c.2491A>G (p.Lys831Glu) c.2506A>G (p.Lys836Glu) n.293A>G c.2608A>G (p.Lys870Glu) | |
21 | g.32657076T>G | CA410074492 | SYNJ1 | c.2623A>C (p.Lys875Gln) c.2491A>C (p.Lys831Gln) c.2506A>C (p.Lys836Gln) n.293A>C c.2608A>C (p.Lys870Gln) | |
21 | g.32657077G>A | CA512332274 | SYNJ1 | c.2622C>T (p.Ser874=) c.2490C>T (p.Ser830=) c.2505C>T (p.Ser835=) n.292C>T c.2607C>T (p.Ser869=) | |
21 | g.32657077G>C | CA410074497 | SYNJ1 | c.2622C>G (p.Ser874Arg) c.2490C>G (p.Ser830Arg) c.2505C>G (p.Ser835Arg) n.292C>G c.2607C>G (p.Ser869Arg) | |
21 | g.32657077G= | CA2386325226 | SYNJ1 | c.2622C= (p.Ser874=) c.2490C= (p.Ser830=) c.2505C= (p.Ser835=) n.292C= c.2607C= (p.Ser869=) | |
21 | g.32657077G>T | CA10003647 | SYNJ1 | c.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 |
21 | g.32657078C>A | CA410074501 | SYNJ1 | c.2621G>T (p.Ser874Ile) c.2489G>T (p.Ser830Ile) c.2504G>T (p.Ser835Ile) n.291G>T c.2606G>T (p.Ser869Ile) | |
21 | g.32657078C>G | CA410074503 | SYNJ1 | c.2621G>C (p.Ser874Thr) c.2489G>C (p.Ser830Thr) c.2504G>C (p.Ser835Thr) n.291G>C c.2606G>C (p.Ser869Thr) | |
21 | g.32657078C>T | CA410074506 | SYNJ1 | c.2621G>A (p.Ser874Asn) c.2489G>A (p.Ser830Asn) c.2504G>A (p.Ser835Asn) n.291G>A c.2606G>A (p.Ser869Asn) | |
21 | g.32657079T>A | CA410074510 | SYNJ1 | c.2620A>T (p.Ser874Cys) c.2488A>T (p.Ser830Cys) c.2503A>T (p.Ser835Cys) n.290A>T c.2605A>T (p.Ser869Cys) | |
21 | g.32657079T>C | CA410074512 | SYNJ1 | c.2620A>G (p.Ser874Gly) c.2488A>G (p.Ser830Gly) c.2503A>G (p.Ser835Gly) n.290A>G c.2605A>G (p.Ser869Gly) | dbSNP |
21 | g.32657079T>G | CA410074515 | SYNJ1 | c.2620A>C (p.Ser874Arg) c.2488A>C (p.Ser830Arg) c.2503A>C (p.Ser835Arg) n.290A>C c.2605A>C (p.Ser869Arg) | |
21 | g.32657079T= | CA2386325227 | SYNJ1 | c.2620A= (p.Ser874=) c.2488A= (p.Ser830=) c.2503A= (p.Ser835=) n.290A= c.2605A= (p.Ser869=) | |
21 | g.32657080T>A | CA410074518 | SYNJ1 | c.2619A>T (p.Glu873Asp) c.2487A>T (p.Glu829Asp) c.2502A>T (p.Glu834Asp) n.289A>T c.2604A>T (p.Glu868Asp) | |
21 | g.32657080T>C | CA512332278 | SYNJ1 | c.2619A>G (p.Glu873=) c.2487A>G (p.Glu829=) c.2502A>G (p.Glu834=) n.289A>G c.2604A>G (p.Glu868=) | |
21 | g.32657080T>G | CA410074520 | SYNJ1 | c.2619A>C (p.Glu873Asp) c.2487A>C (p.Glu829Asp) c.2502A>C (p.Glu834Asp) n.289A>C c.2604A>C (p.Glu868Asp) | |
21 | g.32657081T>A | CA410074525 | SYNJ1 | c.2618A>T (p.Glu873Val) c.2486A>T (p.Glu829Val) c.2501A>T (p.Glu834Val) n.288A>T c.2603A>T (p.Glu868Val) | |
21 | g.32657081T>C | CA410074527 | SYNJ1 | c.2618A>G (p.Glu873Gly) c.2486A>G (p.Glu829Gly) c.2501A>G (p.Glu834Gly) n.288A>G c.2603A>G (p.Glu868Gly) | |
21 | g.32657081T>G | CA410074523 | SYNJ1 | c.2618A>C (p.Glu873Ala) c.2486A>C (p.Glu829Ala) c.2501A>C (p.Glu834Ala) n.288A>C c.2603A>C (p.Glu868Ala) | |
21 | g.32657082C>A | CA410074530 | SYNJ1 | c.2617G>T (p.Glu873Ter) c.2485G>T (p.Glu829Ter) c.2500G>T (p.Glu834Ter) n.287G>T c.2602G>T (p.Glu868Ter) | |
21 | g.32657082C>G | CA410074532 | SYNJ1 | c.2617G>C (p.Glu873Gln) c.2485G>C (p.Glu829Gln) c.2500G>C (p.Glu834Gln) n.287G>C c.2602G>C (p.Glu868Gln) | |
21 | g.32657082C>T | CA410074534 | SYNJ1 | c.2617G>A (p.Glu873Lys) c.2485G>A (p.Glu829Lys) c.2500G>A (p.Glu834Lys) n.287G>A c.2602G>A (p.Glu868Lys) | |
21 | g.32657083A= | CA2386325228 | SYNJ1 | c.2616T= (p.Asp872=) c.2484T= (p.Asp828=) c.2499T= (p.Asp833=) n.286T= c.2601T= (p.Asp867=) | |
21 | g.32657083A>C | CA410074537 | SYNJ1 | c.2616T>G (p.Asp872Glu) c.2484T>G (p.Asp828Glu) c.2499T>G (p.Asp833Glu) n.286T>G c.2601T>G (p.Asp867Glu) | gnomAD v4 |
21 | g.32657083A>G | CA512332280 | SYNJ1 | c.2616T>C (p.Asp872=) c.2484T>C (p.Asp828=) c.2499T>C (p.Asp833=) n.286T>C c.2601T>C (p.Asp867=) | dbSNP |
21 | g.32657083A>T | CA410074539 | SYNJ1 | c.2616T>A (p.Asp872Glu) c.2484T>A (p.Asp828Glu) c.2499T>A (p.Asp833Glu) n.286T>A c.2601T>A (p.Asp867Glu) | |
21 | g.32657084T>A | CA410074543 | SYNJ1 | c.2615A>T (p.Asp872Val) c.2483A>T (p.Asp828Val) c.2498A>T (p.Asp833Val) n.285A>T c.2600A>T (p.Asp867Val) | gnomAD v4 |
21 | g.32657084T>C | CA10003648 | SYNJ1 | c.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 |
21 | g.32657084T>G | CA410074547 | SYNJ1 | c.2615A>C (p.Asp872Ala) c.2483A>C (p.Asp828Ala) c.2498A>C (p.Asp833Ala) n.285A>C c.2600A>C (p.Asp867Ala) | |
21 | g.32657084T= | CA2386325229 | SYNJ1 | c.2615A= (p.Asp872=) c.2483A= (p.Asp828=) c.2498A= (p.Asp833=) n.285A= c.2600A= (p.Asp867=) | |
21 | g.32657085C>A | CA410074549 | SYNJ1 | c.2614G>T (p.Asp872Tyr) c.2482G>T (p.Asp828Tyr) c.2497G>T (p.Asp833Tyr) n.284G>T c.2599G>T (p.Asp867Tyr) | |
21 | g.32657085C>G | CA410074552 | SYNJ1 | c.2614G>C (p.Asp872His) c.2482G>C (p.Asp828His) c.2497G>C (p.Asp833His) n.284G>C c.2599G>C (p.Asp867His) | |
21 | g.32657085C>T | CA410074554 | SYNJ1 | c.2614G>A (p.Asp872Asn) c.2482G>A (p.Asp828Asn) c.2497G>A (p.Asp833Asn) n.284G>A c.2599G>A (p.Asp867Asn) | |
21 | g.32657086T>A | CA410074557 | SYNJ1 | c.2613A>T (p.Gln871His) c.2481A>T (p.Gln827His) c.2496A>T (p.Gln832His) n.283A>T c.2598A>T (p.Gln866His) | |
21 | g.32657086T>C | CA319425855 | SYNJ1 | c.2613A>G (p.Gln871=) c.2481A>G (p.Gln827=) c.2496A>G (p.Gln832=) n.283A>G c.2598A>G (p.Gln866=) | dbSNP |
21 | g.32657086T>G | CA410074559 | SYNJ1 | c.2613A>C (p.Gln871His) c.2481A>C (p.Gln827His) c.2496A>C (p.Gln832His) n.283A>C c.2598A>C (p.Gln866His) | |
21 | g.32657086T= | CA2386325230 | SYNJ1 | c.2613A= (p.Gln871=) c.2481A= (p.Gln827=) c.2496A= (p.Gln832=) n.283A= c.2598A= (p.Gln866=) | |
21 | g.32657087T>A | CA410074566 | SYNJ1 | c.2612A>T (p.Gln871Leu) c.2480A>T (p.Gln827Leu) c.2495A>T (p.Gln832Leu) n.282A>T c.2597A>T (p.Gln866Leu) | |
21 | g.32657087T>C | CA410074564 | SYNJ1 | c.2612A>G (p.Gln871Arg) c.2480A>G (p.Gln827Arg) c.2495A>G (p.Gln832Arg) n.282A>G c.2597A>G (p.Gln866Arg) | |
21 | g.32657087T>G | CA410074562 | SYNJ1 | c.2612A>C (p.Gln871Pro) c.2480A>C (p.Gln827Pro) c.2495A>C (p.Gln832Pro) n.282A>C c.2597A>C (p.Gln866Pro) | |
21 | g.32657088G>A | CA410074569 | SYNJ1 | c.2611C>T (p.Gln871Ter) c.2479C>T (p.Gln827Ter) c.2494C>T (p.Gln832Ter) n.281C>T c.2596C>T (p.Gln866Ter) | |
21 | g.32657088G>C | CA410074573 | SYNJ1 | c.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 |
21 | g.32657088G= | CA2386325231 | SYNJ1 | c.2611C= (p.Gln871=) c.2479C= (p.Gln827=) c.2494C= (p.Gln832=) n.281C= c.2596C= (p.Gln866=) | |
21 | g.32657088G>T | CA410074575 | SYNJ1 | c.2611C>A (p.Gln871Lys) c.2479C>A (p.Gln827Lys) c.2494C>A (p.Gln832Lys) n.281C>A c.2596C>A (p.Gln866Lys) | |
21 | g.32657089A>C | CA410074578 | SYNJ1 | c.2610T>G (p.Phe870Leu) c.2478T>G (p.Phe826Leu) c.2493T>G (p.Phe831Leu) n.280T>G c.2595T>G (p.Phe865Leu) | |
21 | g.32657089A>G | CA512332283 | SYNJ1 | c.2610T>C (p.Phe870=) c.2478T>C (p.Phe826=) c.2493T>C (p.Phe831=) n.280T>C c.2595T>C (p.Phe865=) | |
21 | g.32657089A>T | CA410074580 | SYNJ1 | c.2610T>A (p.Phe870Leu) c.2478T>A (p.Phe826Leu) c.2493T>A (p.Phe831Leu) n.280T>A c.2595T>A (p.Phe865Leu) | |
21 | g.32657090A>C | CA410074584 | SYNJ1 | c.2609T>G (p.Phe870Cys) c.2477T>G (p.Phe826Cys) c.2492T>G (p.Phe831Cys) n.279T>G c.2594T>G (p.Phe865Cys) | |
21 | g.32657090A>G | CA410074586 | SYNJ1 | c.2609T>C (p.Phe870Ser) c.2477T>C (p.Phe826Ser) c.2492T>C (p.Phe831Ser) n.279T>C c.2594T>C (p.Phe865Ser) | |
21 | g.32657090A>T | CA410074589 | SYNJ1 | c.2609T>A (p.Phe870Tyr) c.2477T>A (p.Phe826Tyr) c.2492T>A (p.Phe831Tyr) n.279T>A c.2594T>A (p.Phe865Tyr) | |
21 | g.32657091A= | CA2386325232 | SYNJ1 | c.2608T= (p.Phe870=) c.2476T= (p.Phe826=) c.2491T= (p.Phe831=) n.278T= c.2593T= (p.Phe865=) | |
21 | g.32657091A>C | CA410074592 | SYNJ1 | c.2608T>G (p.Phe870Val) c.2476T>G (p.Phe826Val) c.2491T>G (p.Phe831Val) n.278T>G c.2593T>G (p.Phe865Val) | |
21 | g.32657091A>G | CA410074595 | SYNJ1 | c.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 |
21 | g.32657091A>T | CA410074597 | SYNJ1 | c.2608T>A (p.Phe870Ile) c.2476T>A (p.Phe826Ile) c.2491T>A (p.Phe831Ile) n.278T>A c.2593T>A (p.Phe865Ile) | |
21 | g.32657092A>C | CA410074605 | SYNJ1 | c.2607T>G (p.Ser869Arg) c.2475T>G (p.Ser825Arg) c.2490T>G (p.Ser830Arg) n.277T>G c.2592T>G (p.Ser864Arg) | |
21 | g.32657092A>G | CA512332288 | SYNJ1 | c.2607T>C (p.Ser869=) c.2475T>C (p.Ser825=) c.2490T>C (p.Ser830=) n.277T>C c.2592T>C (p.Ser864=) | gnomAD v4 |
21 | g.32657092A>T | CA410074607 | SYNJ1 | c.2607T>A (p.Ser869Arg) c.2475T>A (p.Ser825Arg) c.2490T>A (p.Ser830Arg) n.277T>A c.2592T>A (p.Ser864Arg) | |
21 | g.32657093C>A | CA410074612 | SYNJ1 | c.2606G>T (p.Ser869Ile) c.2474G>T (p.Ser825Ile) c.2489G>T (p.Ser830Ile) n.276G>T c.2591G>T (p.Ser864Ile) | |
21 | g.32657093C>G | CA410074614 | SYNJ1 | c.2606G>C (p.Ser869Thr) c.2474G>C (p.Ser825Thr) c.2489G>C (p.Ser830Thr) n.276G>C c.2591G>C (p.Ser864Thr) | |
21 | g.32657093C>T | CA410074609 | SYNJ1 | c.2606G>A (p.Ser869Asn) c.2474G>A (p.Ser825Asn) c.2489G>A (p.Ser830Asn) n.276G>A c.2591G>A (p.Ser864Asn) | |
21 | g.32657094T>A | CA410074623 | SYNJ1 | c.2605A>T (p.Ser869Cys) c.2473A>T (p.Ser825Cys) c.2488A>T (p.Ser830Cys) n.275A>T c.2590A>T (p.Ser864Cys) | |
21 | g.32657094T>C | CA10003649 | SYNJ1 | c.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 |
21 | g.32657094T>G | CA410074621 | SYNJ1 | c.2605A>C (p.Ser869Arg) c.2473A>C (p.Ser825Arg) c.2488A>C (p.Ser830Arg) n.275A>C c.2590A>C (p.Ser864Arg) | |
21 | g.32657094T= | CA2386325233 | SYNJ1 | c.2605A= (p.Ser869=) c.2473A= (p.Ser825=) c.2488A= (p.Ser830=) n.275A= c.2590A= (p.Ser864=) | |
21 | g.32657095A= | CA2386325234 | SYNJ1 | c.2604T= (p.Ala868=) c.2472T= (p.Ala824=) c.2487T= (p.Ala829=) n.274T= c.2589T= (p.Ala863=) | |
21 | g.32657095A>C | CA512332294 | SYNJ1 | c.2604T>G (p.Ala868=) c.2472T>G (p.Ala824=) c.2487T>G (p.Ala829=) n.274T>G c.2589T>G (p.Ala863=) | |
21 | g.32657095A>G | CA10003650 | SYNJ1 | c.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 |
21 | g.32657095A>T | CA512332293 | SYNJ1 | c.2604T>A (p.Ala868=) c.2472T>A (p.Ala824=) c.2487T>A (p.Ala829=) n.274T>A c.2589T>A (p.Ala863=) | |
21 | g.32657096G>A | CA410074630 | SYNJ1 | c.2603C>T (p.Ala868Val) c.2471C>T (p.Ala824Val) c.2486C>T (p.Ala829Val) n.273C>T c.2588C>T (p.Ala863Val) | |
21 | g.32657096G>C | CA410074632 | SYNJ1 | c.2603C>G (p.Ala868Gly) c.2471C>G (p.Ala824Gly) c.2486C>G (p.Ala829Gly) n.273C>G c.2588C>G (p.Ala863Gly) | |
21 | g.32657096G>T | CA410074635 | SYNJ1 | c.2603C>A (p.Ala868Asp) c.2471C>A (p.Ala824Asp) c.2486C>A (p.Ala829Asp) n.273C>A c.2588C>A (p.Ala863Asp) | |
21 | g.32657097C>A | CA410074643 | SYNJ1 | c.2602G>T (p.Ala868Ser) c.2470G>T (p.Ala824Ser) c.2485G>T (p.Ala829Ser) n.272G>T c.2587G>T (p.Ala863Ser) | |
21 | g.32657097C>G | CA410074638 | SYNJ1 | c.2602G>C (p.Ala868Pro) c.2470G>C (p.Ala824Pro) c.2485G>C (p.Ala829Pro) n.272G>C c.2587G>C (p.Ala863Pro) | |
21 | g.32657097C>T | CA410074641 | SYNJ1 | c.2602G>A (p.Ala868Thr) c.2470G>A (p.Ala824Thr) c.2485G>A (p.Ala829Thr) n.272G>A c.2587G>A (p.Ala863Thr) | gnomAD v4 |
21 | g.32657098A>C | CA410074647 | SYNJ1 | c.2601T>G (p.Asn867Lys) c.2469T>G (p.Asn823Lys) c.2484T>G (p.Asn828Lys) n.271T>G c.2586T>G (p.Asn862Lys) | |
21 | g.32657098A>G | CA512332296 | SYNJ1 | c.2601T>C (p.Asn867=) c.2469T>C (p.Asn823=) c.2484T>C (p.Asn828=) n.271T>C c.2586T>C (p.Asn862=) | gnomAD v4 |
21 | g.32657098A>T | CA410074649 | SYNJ1 | c.2601T>A (p.Asn867Lys) c.2469T>A (p.Asn823Lys) c.2484T>A (p.Asn828Lys) n.271T>A c.2586T>A (p.Asn862Lys) | |
21 | g.32657099T>A | CA410074652 | SYNJ1 | c.2600A>T (p.Asn867Ile) c.2468A>T (p.Asn823Ile) c.2483A>T (p.Asn828Ile) n.270A>T c.2585A>T (p.Asn862Ile) | |
21 | g.32657099T>C | CA410074654 | SYNJ1 | c.2600A>G (p.Asn867Ser) c.2468A>G (p.Asn823Ser) c.2483A>G (p.Asn828Ser) n.270A>G c.2585A>G (p.Asn862Ser) | |
21 | g.32657099T>G | CA410074657 | SYNJ1 | c.2600A>C (p.Asn867Thr) c.2468A>C (p.Asn823Thr) c.2483A>C (p.Asn828Thr) n.270A>C c.2585A>C (p.Asn862Thr) | |
21 | g.32657100T>A | CA410074660 | SYNJ1 | c.2599A>T (p.Asn867Tyr) c.2467A>T (p.Asn823Tyr) c.2482A>T (p.Asn828Tyr) n.269A>T c.2584A>T (p.Asn862Tyr) | |
21 | g.32657100T>C | CA410074664 | SYNJ1 | c.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 |
21 | g.32657100T>G | CA410074662 | SYNJ1 | c.2599A>C (p.Asn867His) c.2467A>C (p.Asn823His) c.2482A>C (p.Asn828His) n.269A>C c.2584A>C (p.Asn862His) | |
21 | g.32657100T= | CA2386325235 | SYNJ1 | c.2599A= (p.Asn867=) c.2467A= (p.Asn823=) c.2482A= (p.Asn828=) n.269A= c.2584A= (p.Asn862=) | |
21 | g.32657101T>A | CA512332301 | SYNJ1 | c.2598A>T (p.Leu866=) c.2466A>T (p.Leu822=) c.2481A>T (p.Leu827=) n.268A>T c.2583A>T (p.Leu861=) | |
21 | g.32657101T>C | CA512332299 | SYNJ1 | c.2598A>G (p.Leu866=) c.2466A>G (p.Leu822=) c.2481A>G (p.Leu827=) n.268A>G c.2583A>G (p.Leu861=) | |
21 | g.32657101T>G | CA512332300 | SYNJ1 | c.2598A>C (p.Leu866=) c.2466A>C (p.Leu822=) c.2481A>C (p.Leu827=) n.268A>C c.2583A>C (p.Leu861=) | |
21 | g.32657101_32657104delinsTAGA | CA2386325236 | SYNJ1 | c.2595_2598delinsTCTA (p.Leu865=) c.2463_2466delinsTCTA (p.Leu821=) c.2478_2481delinsTCTA (p.Leu826=) n.265_268delinsTCTA c.2580_2583delinsTCTA (p.Leu860=) | |
21 | g.32657102A>C | CA410074668 | SYNJ1 | c.2597T>G (p.Leu866Arg) c.2465T>G (p.Leu822Arg) c.2480T>G (p.Leu827Arg) n.267T>G c.2582T>G (p.Leu861Arg) | |
21 | g.32657102A>G | CA410074672 | SYNJ1 | c.2597T>C (p.Leu866Pro) c.2465T>C (p.Leu822Pro) c.2480T>C (p.Leu827Pro) n.267T>C c.2582T>C (p.Leu861Pro) | |
21 | g.32657102A>T | CA410074674 | SYNJ1 | c.2597T>A (p.Leu866Gln) c.2465T>A (p.Leu822Gln) c.2480T>A (p.Leu827Gln) n.267T>A c.2582T>A (p.Leu861Gln) | |
21 | g.32657105_32657107del | CA10003651 | SYNJ1 | c.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 |
21 | g.32657103G>A | CA512332303 | SYNJ1 | c.2596C>T (p.Leu866=) c.2464C>T (p.Leu822=) c.2479C>T (p.Leu827=) n.266C>T c.2581C>T (p.Leu861=) | |
21 | g.32657103G>C | CA410074678 | SYNJ1 | c.2596C>G (p.Leu866Val) c.2464C>G (p.Leu822Val) c.2479C>G (p.Leu827Val) n.266C>G c.2581C>G (p.Leu861Val) | |
21 | g.32657103G>T | CA410074680 | SYNJ1 | c.2596C>A (p.Leu866Ile) c.2464C>A (p.Leu822Ile) c.2479C>A (p.Leu827Ile) n.266C>A c.2581C>A (p.Leu861Ile) | |
21 | g.32657104A>C | CA512332305 | SYNJ1 | c.2595T>G (p.Leu865=) c.2463T>G (p.Leu821=) c.2478T>G (p.Leu826=) n.265T>G c.2580T>G (p.Leu860=) | |
21 | g.32657104A>G | CA512332306 | SYNJ1 | c.2595T>C (p.Leu865=) c.2463T>C (p.Leu821=) c.2478T>C (p.Leu826=) n.265T>C c.2580T>C (p.Leu860=) | |
21 | g.32657104A>T | CA512332307 | SYNJ1 | c.2595T>A (p.Leu865=) c.2463T>A (p.Leu821=) c.2478T>A (p.Leu826=) n.265T>A c.2580T>A (p.Leu860=) | |
21 | g.32657105A>C | CA410074684 | SYNJ1 | c.2594T>G (p.Leu865Arg) c.2462T>G (p.Leu821Arg) c.2477T>G (p.Leu826Arg) n.264T>G c.2579T>G (p.Leu860Arg) | |
21 | g.32657105A>G | CA410074686 | SYNJ1 | c.2594T>C (p.Leu865Pro) c.2462T>C (p.Leu821Pro) c.2477T>C (p.Leu826Pro) n.264T>C c.2579T>C (p.Leu860Pro) | |
21 | g.32657105A>T | CA410074688 | SYNJ1 | c.2594T>A (p.Leu865His) c.2462T>A (p.Leu821His) c.2477T>A (p.Leu826His) n.264T>A c.2579T>A (p.Leu860His) | |
21 | g.32657106G>A | CA410074691 | SYNJ1 | c.2593C>T (p.Leu865Phe) c.2461C>T (p.Leu821Phe) c.2476C>T (p.Leu826Phe) n.263C>T c.2578C>T (p.Leu860Phe) | |
21 | g.32657106G>C | CA410074693 | SYNJ1 | c.2593C>G (p.Leu865Val) c.2461C>G (p.Leu821Val) c.2476C>G (p.Leu826Val) n.263C>G c.2578C>G (p.Leu860Val) | |
21 | g.32657106G>T | CA410074696 | SYNJ1 | c.2593C>A (p.Leu865Ile) c.2461C>A (p.Leu821Ile) c.2476C>A (p.Leu826Ile) n.263C>A c.2578C>A (p.Leu860Ile) | |
21 | g.32657107A>C | CA410074702 | SYNJ1 | c.2592T>G (p.Asp864Glu) c.2460T>G (p.Asp820Glu) c.2475T>G (p.Asp825Glu) n.262T>G c.2577T>G (p.Asp859Glu) | |
21 | g.32657107A>G | CA512332311 | SYNJ1 | c.2592T>C (p.Asp864=) c.2460T>C (p.Asp820=) c.2475T>C (p.Asp825=) n.262T>C c.2577T>C (p.Asp859=) | |
21 | g.32657107A>T | CA410074700 | SYNJ1 | c.2592T>A (p.Asp864Glu) c.2460T>A (p.Asp820Glu) c.2475T>A (p.Asp825Glu) n.262T>A c.2577T>A (p.Asp859Glu) | |
21 | g.32657108T>A | CA410074706 | SYNJ1 | c.2591A>T (p.Asp864Val) c.2459A>T (p.Asp820Val) c.2474A>T (p.Asp825Val) n.261A>T c.2576A>T (p.Asp859Val) | |
21 | g.32657108T>C | CA410074708 | SYNJ1 | c.2591A>G (p.Asp864Gly) c.2459A>G (p.Asp820Gly) c.2474A>G (p.Asp825Gly) n.261A>G c.2576A>G (p.Asp859Gly) | |
21 | g.32657108T>G | CA410074710 | SYNJ1 | c.2591A>C (p.Asp864Ala) c.2459A>C (p.Asp820Ala) c.2474A>C (p.Asp825Ala) n.261A>C c.2576A>C (p.Asp859Ala) | |
21 | g.32657109C>A | CA410074714 | SYNJ1 | c.2590G>T (p.Asp864Tyr) c.2458G>T (p.Asp820Tyr) c.2473G>T (p.Asp825Tyr) n.260G>T c.2575G>T (p.Asp859Tyr) | ClinVar dbSNP |
21 | g.32657109C>G | CA410074716 | SYNJ1 | c.2590G>C (p.Asp864His) c.2458G>C (p.Asp820His) c.2473G>C (p.Asp825His) n.260G>C c.2575G>C (p.Asp859His) | gnomAD v4 |
21 | g.32657109C>T | CA410074718 | SYNJ1 | c.2590G>A (p.Asp864Asn) c.2458G>A (p.Asp820Asn) c.2473G>A (p.Asp825Asn) n.260G>A c.2575G>A (p.Asp859Asn) | |
21 | g.32657110T>A | CA512332314 | SYNJ1 | c.2589A>T (p.Leu863=) c.2457A>T (p.Leu819=) c.2472A>T (p.Leu824=) n.259A>T c.2574A>T (p.Leu858=) | |
21 | g.32657110T>C | CA512332315 | SYNJ1 | c.2589A>G (p.Leu863=) c.2457A>G (p.Leu819=) c.2472A>G (p.Leu824=) n.259A>G c.2574A>G (p.Leu858=) | gnomAD v4 |
21 | g.32657110T>G | CA512332316 | SYNJ1 | c.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 |
21 | g.32657110T= | CA2386325237 | SYNJ1 | c.2589A= (p.Leu863=) c.2457A= (p.Leu819=) c.2472A= (p.Leu824=) n.259A= c.2574A= (p.Leu858=) | |
21 | g.32657111A>C | CA410074720 | SYNJ1 | c.2588T>G (p.Leu863Arg) c.2456T>G (p.Leu819Arg) c.2471T>G (p.Leu824Arg) n.258T>G c.2573T>G (p.Leu858Arg) | |
21 | g.32657111A>G | CA410074723 | SYNJ1 | c.2588T>C (p.Leu863Pro) c.2456T>C (p.Leu819Pro) c.2471T>C (p.Leu824Pro) n.258T>C c.2573T>C (p.Leu858Pro) | |
21 | g.32657111A>T | CA410074725 | SYNJ1 | c.2588T>A (p.Leu863Gln) c.2456T>A (p.Leu819Gln) c.2471T>A (p.Leu824Gln) n.258T>A c.2573T>A (p.Leu858Gln) | |
21 | g.32657112G>A | CA512332319 | SYNJ1 | c.2587C>T (p.Leu863=) c.2455C>T (p.Leu819=) c.2470C>T (p.Leu824=) n.257C>T c.2572C>T (p.Leu858=) | |
21 | g.32657112G>C | CA410074729 | SYNJ1 | c.2587C>G (p.Leu863Val) c.2455C>G (p.Leu819Val) c.2470C>G (p.Leu824Val) n.257C>G c.2572C>G (p.Leu858Val) | |
21 | g.32657112G>T | CA410074732 | SYNJ1 | c.2587C>A (p.Leu863Ile) c.2455C>A (p.Leu819Ile) c.2470C>A (p.Leu824Ile) n.257C>A c.2572C>A (p.Leu858Ile) | gnomAD v4 |
21 | g.32657112dup | CA2817728797 | SYNJ1 | c.2587dup (p.Leu863ProfsTer7) c.2455dup (p.Leu819ProfsTer7) c.2470dup (p.Leu824ProfsTer7) n.257dup c.2572dup (p.Leu858ProfsTer7) | |
21 | g.32657113A= | CA2386325238 | SYNJ1 | c.2586T= (p.Asp862=) c.2454T= (p.Asp818=) c.2469T= (p.Asp823=) n.256T= c.2571T= (p.Asp857=) | |
21 | g.32657113A>C | CA10003652 | SYNJ1 | c.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 |
21 | g.32657113A>G | CA512332320 | SYNJ1 | c.2586T>C (p.Asp862=) c.2454T>C (p.Asp818=) c.2469T>C (p.Asp823=) n.256T>C c.2571T>C (p.Asp857=) | |
21 | g.32657113A>T | CA410074736 | SYNJ1 | c.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 |
21 | g.32657114T>A | CA410074739 | SYNJ1 | c.2585A>T (p.Asp862Val) c.2453A>T (p.Asp818Val) c.2468A>T (p.Asp823Val) n.255A>T c.2570A>T (p.Asp857Val) | |
21 | g.32657114T>C | CA410074738 | SYNJ1 | c.2585A>G (p.Asp862Gly) c.2453A>G (p.Asp818Gly) c.2468A>G (p.Asp823Gly) n.255A>G c.2570A>G (p.Asp857Gly) | |
21 | g.32657114T>G | CA319425871 | SYNJ1 | c.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 |
21 | g.32657114T= | CA2386325239 | SYNJ1 | c.2585A= (p.Asp862=) c.2453A= (p.Asp818=) c.2468A= (p.Asp823=) n.255A= c.2570A= (p.Asp857=) | |
21 | g.32657115C>A | CA319425873 | SYNJ1 | c.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 |
21 | g.32657115C= | CA2386325240 | SYNJ1 | c.2584G= (p.Asp862=) c.2452G= (p.Asp818=) c.2467G= (p.Asp823=) n.254G= c.2569G= (p.Asp857=) | |
21 | g.32657115C>G | CA410074740 | SYNJ1 | c.2584G>C (p.Asp862His) c.2452G>C (p.Asp818His) c.2467G>C (p.Asp823His) n.254G>C c.2569G>C (p.Asp857His) | |
21 | g.32657115C>T | CA410074741 | SYNJ1 | c.2584G>A (p.Asp862Asn) c.2452G>A (p.Asp818Asn) c.2467G>A (p.Asp823Asn) n.254G>A c.2569G>A (p.Asp857Asn) | |
21 | g.32657116T>A | CA410074742 | SYNJ1 | c.2583A>T (p.Glu861Asp) c.2451A>T (p.Glu817Asp) c.2466A>T (p.Glu822Asp) n.253A>T c.2568A>T (p.Glu856Asp) | |
21 | g.32657116T>C | CA512332323 | SYNJ1 | c.2583A>G (p.Glu861=) c.2451A>G (p.Glu817=) c.2466A>G (p.Glu822=) n.253A>G c.2568A>G (p.Glu856=) | gnomAD v4 |
21 | g.32657116T>G | CA410074743 | SYNJ1 | c.2583A>C (p.Glu861Asp) c.2451A>C (p.Glu817Asp) c.2466A>C (p.Glu822Asp) n.253A>C c.2568A>C (p.Glu856Asp) | |
21 | g.32657117T>A | CA410074744 | SYNJ1 | c.2582A>T (p.Glu861Val) c.2450A>T (p.Glu817Val) c.2465A>T (p.Glu822Val) n.252A>T c.2567A>T (p.Glu856Val) | |
21 | g.32657117T>C | CA410074745 | SYNJ1 | c.2582A>G (p.Glu861Gly) c.2450A>G (p.Glu817Gly) c.2465A>G (p.Glu822Gly) n.252A>G c.2567A>G (p.Glu856Gly) | |
21 | g.32657117T>G | CA410074746 | SYNJ1 | c.2582A>C (p.Glu861Ala) c.2450A>C (p.Glu817Ala) c.2465A>C (p.Glu822Ala) n.252A>C c.2567A>C (p.Glu856Ala) | |
21 | g.32657118C>A | CA410074747 | SYNJ1 | c.2581G>T (p.Glu861Ter) c.2449G>T (p.Glu817Ter) c.2464G>T (p.Glu822Ter) n.251G>T c.2566G>T (p.Glu856Ter) | |
21 | g.32657118C>G | CA410074748 | SYNJ1 | c.2581G>C (p.Glu861Gln) c.2449G>C (p.Glu817Gln) c.2464G>C (p.Glu822Gln) n.251G>C c.2566G>C (p.Glu856Gln) | |
21 | g.32657118C>T | CA410074749 | SYNJ1 | c.2581G>A (p.Glu861Lys) c.2449G>A (p.Glu817Lys) c.2464G>A (p.Glu822Lys) n.251G>A c.2566G>A (p.Glu856Lys) | |
21 | g.32657119_32657121del | CA2654268260 | SYNJ1 | c.2579_2581del c.2447_2449del c.2462_2464del n.249_251del c.2564_2566del | gnomAD v4 |
21 | g.32657118_32657119insTAA | CA2654268261 | SYNJ1 | c.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 |
21 | g.32657119A>C | CA512332326 | SYNJ1 | c.2580T>G (p.Ala860=) c.2448T>G (p.Ala816=) c.2463T>G (p.Ala821=) n.250T>G c.2565T>G (p.Ala855=) | |
21 | g.32657119A>G | CA512332325 | SYNJ1 | c.2580T>C (p.Ala860=) c.2448T>C (p.Ala816=) c.2463T>C (p.Ala821=) n.250T>C c.2565T>C (p.Ala855=) | gnomAD v4 |
21 | g.32657119A>T | CA512332327 | SYNJ1 | c.2580T>A (p.Ala860=) c.2448T>A (p.Ala816=) c.2463T>A (p.Ala821=) n.250T>A c.2565T>A (p.Ala855=) | |
21 | g.32657120G>A | CA410074750 | SYNJ1 | c.2579C>T (p.Ala860Val) c.2447C>T (p.Ala816Val) c.2462C>T (p.Ala821Val) n.249C>T c.2564C>T (p.Ala855Val) | |
21 | g.32657120G>C | CA410074751 | SYNJ1 | c.2579C>G (p.Ala860Gly) c.2447C>G (p.Ala816Gly) c.2462C>G (p.Ala821Gly) n.249C>G c.2564C>G (p.Ala855Gly) | |
21 | g.32657120G>T | CA410074752 | SYNJ1 | c.2579C>A (p.Ala860Asp) c.2447C>A (p.Ala816Asp) c.2462C>A (p.Ala821Asp) n.249C>A c.2564C>A (p.Ala855Asp) | gnomAD v4 |
21 | g.32657121C>A | CA410074753 | SYNJ1 | c.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) | |
21 | g.32657121C= | CA2386325241 | SYNJ1 | c.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=) | |
21 | g.32657121C>G | CA410074754 | SYNJ1 | c.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) | |
21 | g.32657121C>T | CA10003653 | SYNJ1 | c.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 |
21 | g.32657122T>A | CA410074755 | SYNJ1 | c.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) | |
21 | g.32657122T>C | CA410074757 | SYNJ1 | c.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 |
21 | g.32657122T>G | CA410074756 | SYNJ1 | c.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 |
21 | g.32657123G>A | CA748730363 | SYNJ1 | c.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 |
21 | g.32657123G= | CA2386325242 | SYNJ1 | c.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=) | |
21 | g.32657123G>T | CA638052308 | SYNJ1 | c.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 |
21 | g.32657123_32657133del | CA2654268262 | SYNJ1 | c.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 |
21 | g.32657124C= | CA2386325243 | SYNJ1 | c.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=) | |
21 | g.32657124C>G | CA2507079805 | SYNJ1 | c.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) | |
21 | g.32657124C>T | CA10003654 | SYNJ1 | c.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 |
21 | g.32657125A>G | CA2580098562 | SYNJ1 | c.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 |
21 | g.32657126G>A | CA2654268263 | SYNJ1 | c.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 |
21 | g.32657126G= | CA2386325244 | SYNJ1 | c.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=) | |
21 | g.32657126G>T | CA915952593 | SYNJ1 | c.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 |
21 | g.32657128C>A | CA2654268264 | SYNJ1 | c.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 |
21 | g.32657128C>T | CA2654268265 | SYNJ1 | c.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 |
21 | g.32657130G>C | CA10003656 | SYNJ1 | c.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 |
21 | g.32657130G= | CA2386325246 | SYNJ1 | c.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=) | |
21 | g.32657130G>T | CA2654268266 | SYNJ1 | c.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 |
21 | g.32657130_32657132delinsGAA | CA2386325245 | SYNJ1 | c.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) | |
21 | g.32657131_32657132del | CA10003655 | SYNJ1 | c.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 |
21 | g.32657133G>A | CA2817728798 | SYNJ1 | c.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) | |
21 | g.32657133G>T | CA2654268267 | SYNJ1 | c.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 |
21 | g.32657137T>A | CA2654268268 | SYNJ1 | c.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 |
21 | g.32657138G= | CA2386325247 | SYNJ1 | c.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=) | |
21 | g.32657138G>T | CA10003657 | SYNJ1 | c.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 |
21 | g.32657139A>G | CA2573157388 | SYNJ1 | c.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 |