| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 21 | g.32657036T>A | CA410074268 | SYNJ1 | c.2663A>T (p.Tyr888Phe) c.2531A>T (p.Tyr844Phe) c.2546A>T (p.Tyr849Phe) n.333A>T c.2648A>T (p.Tyr883Phe) | |
| 21 | g.32657036T>C | CA16609236 | SYNJ1 | c.2663A>G (p.Tyr888Cys) c.2531A>G (p.Tyr844Cys) c.2546A>G (p.Tyr849Cys) n.333A>G c.2648A>G (p.Tyr883Cys) | ClinVar dbSNP gnomAD v4 |
| 21 | g.32657036T>G | CA410074270 | SYNJ1 | c.2663A>C (p.Tyr888Ser) c.2531A>C (p.Tyr844Ser) c.2546A>C (p.Tyr849Ser) n.333A>C c.2648A>C (p.Tyr883Ser) | |
| 21 | g.32657036T= | CA2386325204 | SYNJ1 | c.2663A= (p.Tyr888=) c.2531A= (p.Tyr844=) c.2546A= (p.Tyr849=) n.333A= c.2648A= (p.Tyr883=) | |
| 21 | g.32657037A= | CA2386325205 | SYNJ1 | c.2662T= (p.Tyr888=) c.2530T= (p.Tyr844=) c.2545T= (p.Tyr849=) n.332T= c.2647T= (p.Tyr883=) | |
| 21 | g.32657037A>C | CA410074275 | SYNJ1 | c.2662T>G (p.Tyr888Asp) c.2530T>G (p.Tyr844Asp) c.2545T>G (p.Tyr849Asp) n.332T>G c.2647T>G (p.Tyr883Asp) | |
| 21 | g.32657037A>G | CA319425847 | SYNJ1 | c.2662T>C (p.Tyr888His) c.2530T>C (p.Tyr844His) c.2545T>C (p.Tyr849His) n.332T>C c.2647T>C (p.Tyr883His) | dbSNP gnomAD v4 |
| 21 | g.32657037A>T | CA410074279 | SYNJ1 | c.2662T>A (p.Tyr888Asn) c.2530T>A (p.Tyr844Asn) c.2545T>A (p.Tyr849Asn) n.332T>A c.2647T>A (p.Tyr883Asn) | |
| 21 | g.32657038G>A | CA10003637 | SYNJ1 | c.2661C>T (p.His887=) c.2529C>T (p.His843=) c.2544C>T (p.His848=) n.331C>T c.2646C>T (p.His882=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.32657038G>C | CA410074283 | SYNJ1 | c.2661C>G (p.His887Gln) c.2529C>G (p.His843Gln) c.2544C>G (p.His848Gln) n.331C>G c.2646C>G (p.His882Gln) | |
| 21 | g.32657038G= | CA2386325206 | SYNJ1 | c.2661C= (p.His887=) c.2529C= (p.His843=) c.2544C= (p.His848=) n.331C= c.2646C= (p.His882=) | |
| 21 | g.32657038G>T | CA410074284 | SYNJ1 | c.2661C>A (p.His887Gln) c.2529C>A (p.His843Gln) c.2544C>A (p.His848Gln) n.331C>A c.2646C>A (p.His882Gln) | |
| 21 | g.32657039T>A | CA410074288 | SYNJ1 | c.2660A>T (p.His887Leu) c.2528A>T (p.His843Leu) c.2543A>T (p.His848Leu) n.330A>T c.2645A>T (p.His882Leu) | |
| 21 | g.32657039T>C | CA410074290 | SYNJ1 | c.2660A>G (p.His887Arg) c.2528A>G (p.His843Arg) c.2543A>G (p.His848Arg) n.330A>G c.2645A>G (p.His882Arg) | gnomAD v4 |
| 21 | g.32657039T>G | CA10003638 | SYNJ1 | c.2660A>C (p.His887Pro) c.2528A>C (p.His843Pro) c.2543A>C (p.His848Pro) n.330A>C c.2645A>C (p.His882Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 21 | g.32657039T= | CA2386325207 | SYNJ1 | c.2660A= (p.His887=) c.2528A= (p.His843=) c.2543A= (p.His848=) n.330A= c.2645A= (p.His882=) | |
| 21 | g.32657040G>A | CA10003639 | SYNJ1 | c.2659C>T (p.His887Tyr) c.2527C>T (p.His843Tyr) c.2542C>T (p.His848Tyr) n.329C>T c.2644C>T (p.His882Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.32657040G>C | CA410074297 | SYNJ1 | c.2659C>G (p.His887Asp) c.2527C>G (p.His843Asp) c.2542C>G (p.His848Asp) n.329C>G c.2644C>G (p.His882Asp) | |
| 21 | g.32657040G= | CA2386325208 | SYNJ1 | c.2659C= (p.His887=) c.2527C= (p.His843=) c.2542C= (p.His848=) n.329C= c.2644C= (p.His882=) | |
| 21 | g.32657040G>T | CA410074294 | SYNJ1 | c.2659C>A (p.His887Asn) c.2527C>A (p.His843Asn) c.2542C>A (p.His848Asn) n.329C>A c.2644C>A (p.His882Asn) | |
| 21 | g.32657040_32657041delinsAA | CA915952592 | SYNJ1 | c.2658_2659delinsTT (p.His887Tyr) c.2526_2527delinsTT (p.His843Tyr) c.2541_2542delinsTT (p.His848Tyr) n.328_329delinsTT c.2643_2644delinsTT (p.His882Tyr) | ClinVar dbSNP |
| 21 | g.32657040_32657041delinsGC | CA2386325209 | SYNJ1 | c.2658_2659delinsGC (p.Leu886=) c.2526_2527delinsGC (p.Leu842=) c.2541_2542delinsGC (p.Leu847=) n.328_329delinsGC c.2643_2644delinsGC (p.Leu881=) | |
| 21 | g.32657041C>A | CA10003640 | SYNJ1 | c.2658G>T (p.Leu886=) c.2526G>T (p.Leu842=) c.2541G>T (p.Leu847=) n.328G>T c.2643G>T (p.Leu881=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 21 | g.32657041C= | CA2386325210 | SYNJ1 | c.2658G= (p.Leu886=) c.2526G= (p.Leu842=) c.2541G= (p.Leu847=) n.328G= c.2643G= (p.Leu881=) | |
| 21 | g.32657041C>G | CA512332231 | SYNJ1 | c.2658G>C (p.Leu886=) c.2526G>C (p.Leu842=) c.2541G>C (p.Leu847=) n.328G>C c.2643G>C (p.Leu881=) | |
| 21 | g.32657041C>T | CA512332230 | SYNJ1 | c.2658G>A (p.Leu886=) c.2526G>A (p.Leu842=) c.2541G>A (p.Leu847=) n.328G>A c.2643G>A (p.Leu881=) | |
| 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) |