Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.77580050G>ACA2497329ROBO2c.2444G>A (p.Arg815Gln)
c.2492G>A (p.Arg831Gln)
c.2513G>A (p.Arg838Gln)
c.2432G>A (p.Arg811Gln)
c.*739G>A (n.*739G>A)
c.*876G>A (n.*876G>A)
c.2480G>A (p.Arg827Gln)
c.2048G>A (p.Arg683Gln)
c.653G>A (p.Arg218Gln)
c.2501G>A (p.Arg834Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.77580050G>CCA353522979ROBO2c.2444G>C (p.Arg815Pro)
c.2492G>C (p.Arg831Pro)
c.2513G>C (p.Arg838Pro)
c.2432G>C (p.Arg811Pro)
c.*739G>C (n.*739G>C)
c.*876G>C (n.*876G>C)
c.2480G>C (p.Arg827Pro)
c.2048G>C (p.Arg683Pro)
c.653G>C (p.Arg218Pro)
c.2501G>C (p.Arg834Pro)
3g.77580050G=CA1376747951ROBO2c.2444G= (p.Arg815=)
c.2492G= (p.Arg831=)
c.2513G= (p.Arg838=)
c.2432G= (p.Arg811=)
c.*739G= (n.*739G=)
c.*876G= (n.*876G=)
c.2480G= (p.Arg827=)
c.2048G= (p.Arg683=)
c.653G= (p.Arg218=)
c.2501G= (p.Arg834=)
3g.77580050G>TCA353522980ROBO2c.2444G>T (p.Arg815Leu)
c.2492G>T (p.Arg831Leu)
c.2513G>T (p.Arg838Leu)
c.2432G>T (p.Arg811Leu)
c.*739G>T (n.*739G>T)
c.*876G>T (n.*876G>T)
c.2480G>T (p.Arg827Leu)
c.2048G>T (p.Arg683Leu)
c.653G>T (p.Arg218Leu)
c.2501G>T (p.Arg834Leu)
3g.77580051G>ACA434435935ROBO2c.2445G>A (p.Arg815=)
c.2493G>A (p.Arg831=)
c.2514G>A (p.Arg838=)
c.2433G>A (p.Arg811=)
c.*740G>A (n.*740G>A)
c.*877G>A (n.*877G>A)
c.2481G>A (p.Arg827=)
c.2049G>A (p.Arg683=)
c.654G>A (p.Arg218=)
c.2502G>A (p.Arg834=)
3g.77580051G>CCA434435936ROBO2c.2445G>C (p.Arg815=)
c.2493G>C (p.Arg831=)
c.2514G>C (p.Arg838=)
c.2433G>C (p.Arg811=)
c.*740G>C (n.*740G>C)
c.*877G>C (n.*877G>C)
c.2481G>C (p.Arg827=)
c.2049G>C (p.Arg683=)
c.654G>C (p.Arg218=)
c.2502G>C (p.Arg834=)
dbSNP gnomAD v4
3g.77580051G=CA1376747952ROBO2c.2445G= (p.Arg815=)
c.2493G= (p.Arg831=)
c.2514G= (p.Arg838=)
c.2433G= (p.Arg811=)
c.*740G= (n.*740G=)
c.*877G= (n.*877G=)
c.2481G= (p.Arg827=)
c.2049G= (p.Arg683=)
c.654G= (p.Arg218=)
c.2502G= (p.Arg834=)
3g.77580051G>TCA2497330ROBO2c.2445G>T (p.Arg815=)
c.2493G>T (p.Arg831=)
c.2514G>T (p.Arg838=)
c.2433G>T (p.Arg811=)
c.*740G>T (n.*740G>T)
c.*877G>T (n.*877G>T)
c.2481G>T (p.Arg827=)
c.2049G>T (p.Arg683=)
c.654G>T (p.Arg218=)
c.2502G>T (p.Arg834=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.77580052G>ACA353522982ROBO2c.2446G>A (p.Val816Ile)
c.2494G>A (p.Val832Ile)
c.2515G>A (p.Val839Ile)
c.2434G>A (p.Val812Ile)
c.*741G>A (n.*741G>A)
c.*878G>A (n.*878G>A)
c.2482G>A (p.Val828Ile)
c.2050G>A (p.Val684Ile)
c.655G>A (p.Val219Ile)
c.2503G>A (p.Val835Ile)
3g.77580052G>CCA353522981ROBO2c.2446G>C (p.Val816Leu)
c.2494G>C (p.Val832Leu)
c.2515G>C (p.Val839Leu)
c.2434G>C (p.Val812Leu)
c.*741G>C (n.*741G>C)
c.*878G>C (n.*878G>C)
c.2482G>C (p.Val828Leu)
c.2050G>C (p.Val684Leu)
c.655G>C (p.Val219Leu)
c.2503G>C (p.Val835Leu)
dbSNP gnomAD v4
3g.77580052G=CA1376747953ROBO2c.2446G= (p.Val816=)
c.2494G= (p.Val832=)
c.2515G= (p.Val839=)
c.2434G= (p.Val812=)
c.*741G= (n.*741G=)
c.*878G= (n.*878G=)
c.2482G= (p.Val828=)
c.2050G= (p.Val684=)
c.655G= (p.Val219=)
c.2503G= (p.Val835=)
3g.77580052G>TCA2497331ROBO2c.2446G>T (p.Val816Leu)
c.2494G>T (p.Val832Leu)
c.2515G>T (p.Val839Leu)
c.2434G>T (p.Val812Leu)
c.*741G>T (n.*741G>T)
c.*878G>T (n.*878G>T)
c.2482G>T (p.Val828Leu)
c.2050G>T (p.Val684Leu)
c.655G>T (p.Val219Leu)
c.2503G>T (p.Val835Leu)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.77580053T>ACA353522983ROBO2c.2447T>A (p.Val816Glu)
c.2495T>A (p.Val832Glu)
c.2516T>A (p.Val839Glu)
c.2435T>A (p.Val812Glu)
c.*742T>A (n.*742T>A)
c.*879T>A (n.*879T>A)
c.2483T>A (p.Val828Glu)
c.2051T>A (p.Val684Glu)
c.656T>A (p.Val219Glu)
c.2504T>A (p.Val835Glu)
3g.77580053T>CCA353522984ROBO2c.2447T>C (p.Val816Ala)
c.2495T>C (p.Val832Ala)
c.2516T>C (p.Val839Ala)
c.2435T>C (p.Val812Ala)
c.*742T>C (n.*742T>C)
c.*879T>C (n.*879T>C)
c.2483T>C (p.Val828Ala)
c.2051T>C (p.Val684Ala)
c.656T>C (p.Val219Ala)
c.2504T>C (p.Val835Ala)
3g.77580053T>GCA353522985ROBO2c.2447T>G (p.Val816Gly)
c.2495T>G (p.Val832Gly)
c.2516T>G (p.Val839Gly)
c.2435T>G (p.Val812Gly)
c.*742T>G (n.*742T>G)
c.*879T>G (n.*879T>G)
c.2483T>G (p.Val828Gly)
c.2051T>G (p.Val684Gly)
c.656T>G (p.Val219Gly)
c.2504T>G (p.Val835Gly)
3g.77580054A=CA1376747954ROBO2c.2448A= (p.Val816=)
c.2496A= (p.Val832=)
c.2517A= (p.Val839=)
c.2436A= (p.Val812=)
c.*743A= (n.*743A=)
c.*880A= (n.*880A=)
c.2484A= (p.Val828=)
c.2052A= (p.Val684=)
c.657A= (p.Val219=)
c.2505A= (p.Val835=)
3g.77580054A>CCA434435937ROBO2c.2448A>C (p.Val816=)
c.2496A>C (p.Val832=)
c.2517A>C (p.Val839=)
c.2436A>C (p.Val812=)
c.*743A>C (n.*743A>C)
c.*880A>C (n.*880A>C)
c.2484A>C (p.Val828=)
c.2052A>C (p.Val684=)
c.657A>C (p.Val219=)
c.2505A>C (p.Val835=)
3g.77580054A>GCA2497332ROBO2c.2448A>G (p.Val816=)
c.2496A>G (p.Val832=)
c.2517A>G (p.Val839=)
c.2436A>G (p.Val812=)
c.*743A>G (n.*743A>G)
c.*880A>G (n.*880A>G)
c.2484A>G (p.Val828=)
c.2052A>G (p.Val684=)
c.657A>G (p.Val219=)
c.2505A>G (p.Val835=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.77580054A>TCA434435938ROBO2c.2448A>T (p.Val816=)
c.2496A>T (p.Val832=)
c.2517A>T (p.Val839=)
c.2436A>T (p.Val812=)
c.*743A>T (n.*743A>T)
c.*880A>T (n.*880A>T)
c.2484A>T (p.Val828=)
c.2052A>T (p.Val684=)
c.657A>T (p.Val219=)
c.2505A>T (p.Val835=)
3g.77580055G>ACA353522986ROBO2c.2449G>A (p.Glu817Lys)
c.2497G>A (p.Glu833Lys)
c.2518G>A (p.Glu840Lys)
c.2437G>A (p.Glu813Lys)
c.*744G>A (n.*744G>A)
c.*881G>A (n.*881G>A)
c.2485G>A (p.Glu829Lys)
c.2053G>A (p.Glu685Lys)
c.658G>A (p.Glu220Lys)
c.2506G>A (p.Glu836Lys)
3g.77580055G>CCA353522987ROBO2c.2449G>C (p.Glu817Gln)
c.2497G>C (p.Glu833Gln)
c.2518G>C (p.Glu840Gln)
c.2437G>C (p.Glu813Gln)
c.*744G>C (n.*744G>C)
c.*881G>C (n.*881G>C)
c.2485G>C (p.Glu829Gln)
c.2053G>C (p.Glu685Gln)
c.658G>C (p.Glu220Gln)
c.2506G>C (p.Glu836Gln)
3g.77580055G>TCA353522988ROBO2c.2449G>T (p.Glu817Ter)
c.2497G>T (p.Glu833Ter)
c.2518G>T (p.Glu840Ter)
c.2437G>T (p.Glu813Ter)
c.*744G>T (n.*744G>T)
c.*881G>T (n.*881G>T)
c.2485G>T (p.Glu829Ter)
c.2053G>T (p.Glu685Ter)
c.658G>T (p.Glu220Ter)
c.2506G>T (p.Glu836Ter)
3g.77580056A>CCA353522989ROBO2c.2450A>C (p.Glu817Ala)
c.2498A>C (p.Glu833Ala)
c.2519A>C (p.Glu840Ala)
c.2438A>C (p.Glu813Ala)
c.*745A>C (n.*745A>C)
c.*882A>C (n.*882A>C)
c.2486A>C (p.Glu829Ala)
c.2054A>C (p.Glu685Ala)
c.659A>C (p.Glu220Ala)
c.2507A>C (p.Glu836Ala)
3g.77580056A>GCA353522990ROBO2c.2450A>G (p.Glu817Gly)
c.2498A>G (p.Glu833Gly)
c.2519A>G (p.Glu840Gly)
c.2438A>G (p.Glu813Gly)
c.*745A>G (n.*745A>G)
c.*882A>G (n.*882A>G)
c.2486A>G (p.Glu829Gly)
c.2054A>G (p.Glu685Gly)
c.659A>G (p.Glu220Gly)
c.2507A>G (p.Glu836Gly)
3g.77580056A>TCA353522991ROBO2c.2450A>T (p.Glu817Val)
c.2498A>T (p.Glu833Val)
c.2519A>T (p.Glu840Val)
c.2438A>T (p.Glu813Val)
c.*745A>T (n.*745A>T)
c.*882A>T (n.*882A>T)
c.2486A>T (p.Glu829Val)
c.2054A>T (p.Glu685Val)
c.659A>T (p.Glu220Val)
c.2507A>T (p.Glu836Val)
3g.77580057G>ACA2497333ROBO2c.2451G>A (p.Glu817=)
c.2499G>A (p.Glu833=)
c.2520G>A (p.Glu840=)
c.2439G>A (p.Glu813=)
c.*746G>A (n.*746G>A)
c.*883G>A (n.*883G>A)
c.2487G>A (p.Glu829=)
c.2055G>A (p.Glu685=)
c.660G>A (p.Glu220=)
c.2508G>A (p.Glu836=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.77580057G>CCA353522992ROBO2c.2451G>C (p.Glu817Asp)
c.2499G>C (p.Glu833Asp)
c.2520G>C (p.Glu840Asp)
c.2439G>C (p.Glu813Asp)
c.*746G>C (n.*746G>C)
c.*883G>C (n.*883G>C)
c.2487G>C (p.Glu829Asp)
c.2055G>C (p.Glu685Asp)
c.660G>C (p.Glu220Asp)
c.2508G>C (p.Glu836Asp)
3g.77580057G=CA1376747955ROBO2c.2451G= (p.Glu817=)
c.2499G= (p.Glu833=)
c.2520G= (p.Glu840=)
c.2439G= (p.Glu813=)
c.*746G= (n.*746G=)
c.*883G= (n.*883G=)
c.2487G= (p.Glu829=)
c.2055G= (p.Glu685=)
c.660G= (p.Glu220=)
c.2508G= (p.Glu836=)
3g.77580057G>TCA353522993ROBO2c.2451G>T (p.Glu817Asp)
c.2499G>T (p.Glu833Asp)
c.2520G>T (p.Glu840Asp)
c.2439G>T (p.Glu813Asp)
c.*746G>T (n.*746G>T)
c.*883G>T (n.*883G>T)
c.2487G>T (p.Glu829Asp)
c.2055G>T (p.Glu685Asp)
c.660G>T (p.Glu220Asp)
c.2508G>T (p.Glu836Asp)
COSMIC COSMIC
3g.77580058G>ACA353522996ROBO2c.2452G>A (p.Val818Ile)
c.2500G>A (p.Val834Ile)
c.2521G>A (p.Val841Ile)
c.2440G>A (p.Val814Ile)
c.*747G>A (n.*747G>A)
c.*884G>A (n.*884G>A)
c.2488G>A (p.Val830Ile)
c.2056G>A (p.Val686Ile)
c.661G>A (p.Val221Ile)
c.2509G>A (p.Val837Ile)
gnomAD v4
3g.77580058G>CCA353522994ROBO2c.2452G>C (p.Val818Leu)
c.2500G>C (p.Val834Leu)
c.2521G>C (p.Val841Leu)
c.2440G>C (p.Val814Leu)
c.*747G>C (n.*747G>C)
c.*884G>C (n.*884G>C)
c.2488G>C (p.Val830Leu)
c.2056G>C (p.Val686Leu)
c.661G>C (p.Val221Leu)
c.2509G>C (p.Val837Leu)
3g.77580058G>TCA353522995ROBO2c.2452G>T (p.Val818Phe)
c.2500G>T (p.Val834Phe)
c.2521G>T (p.Val841Phe)
c.2440G>T (p.Val814Phe)
c.*747G>T (n.*747G>T)
c.*884G>T (n.*884G>T)
c.2488G>T (p.Val830Phe)
c.2056G>T (p.Val686Phe)
c.661G>T (p.Val221Phe)
c.2509G>T (p.Val837Phe)
3g.77580059T>ACA353522997ROBO2c.2453T>A (p.Val818Asp)
c.2501T>A (p.Val834Asp)
c.2522T>A (p.Val841Asp)
c.2441T>A (p.Val814Asp)
c.*748T>A (n.*748T>A)
c.*885T>A (n.*885T>A)
c.2489T>A (p.Val830Asp)
c.2057T>A (p.Val686Asp)
c.662T>A (p.Val221Asp)
c.2510T>A (p.Val837Asp)
3g.77580059T>CCA2497334ROBO2c.2453T>C (p.Val818Ala)
c.2501T>C (p.Val834Ala)
c.2522T>C (p.Val841Ala)
c.2441T>C (p.Val814Ala)
c.*748T>C (n.*748T>C)
c.*885T>C (n.*885T>C)
c.2489T>C (p.Val830Ala)
c.2057T>C (p.Val686Ala)
c.662T>C (p.Val221Ala)
c.2510T>C (p.Val837Ala)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.77580059T>GCA353522998ROBO2c.2453T>G (p.Val818Gly)
c.2501T>G (p.Val834Gly)
c.2522T>G (p.Val841Gly)
c.2441T>G (p.Val814Gly)
c.*748T>G (n.*748T>G)
c.*885T>G (n.*885T>G)
c.2489T>G (p.Val830Gly)
c.2057T>G (p.Val686Gly)
c.662T>G (p.Val221Gly)
c.2510T>G (p.Val837Gly)
3g.77580059T=CA1376747956ROBO2c.2453T= (p.Val818=)
c.2501T= (p.Val834=)
c.2522T= (p.Val841=)
c.2441T= (p.Val814=)
c.*748T= (n.*748T=)
c.*885T= (n.*885T=)
c.2489T= (p.Val830=)
c.2057T= (p.Val686=)
c.662T= (p.Val221=)
c.2510T= (p.Val837=)
3g.77580060T>ACA434435939ROBO2c.2454T>A (p.Val818=)
c.2502T>A (p.Val834=)
c.2523T>A (p.Val841=)
c.2442T>A (p.Val814=)
c.*749T>A (n.*749T>A)
c.*886T>A (n.*886T>A)
c.2490T>A (p.Val830=)
c.2058T>A (p.Val686=)
c.663T>A (p.Val221=)
c.2511T>A (p.Val837=)
3g.77580060T>CCA434435940ROBO2c.2454T>C (p.Val818=)
c.2502T>C (p.Val834=)
c.2523T>C (p.Val841=)
c.2442T>C (p.Val814=)
c.*749T>C (n.*749T>C)
c.*886T>C (n.*886T>C)
c.2490T>C (p.Val830=)
c.2058T>C (p.Val686=)
c.663T>C (p.Val221=)
c.2511T>C (p.Val837=)
3g.77580060T>GCA434435941ROBO2c.2454T>G (p.Val818=)
c.2502T>G (p.Val834=)
c.2523T>G (p.Val841=)
c.2442T>G (p.Val814=)
c.*749T>G (n.*749T>G)
c.*886T>G (n.*886T>G)
c.2490T>G (p.Val830=)
c.2058T>G (p.Val686=)
c.663T>G (p.Val221=)
c.2511T>G (p.Val837=)
3g.77580061G>ACA353522999ROBO2c.2455G>A (p.Ala819Thr)
c.2503G>A (p.Ala835Thr)
c.2524G>A (p.Ala842Thr)
c.2443G>A (p.Ala815Thr)
c.*750G>A (n.*750G>A)
c.*887G>A (n.*887G>A)
c.2491G>A (p.Ala831Thr)
c.2059G>A (p.Ala687Thr)
c.664G>A (p.Ala222Thr)
c.2512G>A (p.Ala838Thr)
3g.77580061G>CCA353523000ROBO2c.2455G>C (p.Ala819Pro)
c.2503G>C (p.Ala835Pro)
c.2524G>C (p.Ala842Pro)
c.2443G>C (p.Ala815Pro)
c.*750G>C (n.*750G>C)
c.*887G>C (n.*887G>C)
c.2491G>C (p.Ala831Pro)
c.2059G>C (p.Ala687Pro)
c.664G>C (p.Ala222Pro)
c.2512G>C (p.Ala838Pro)
3g.77580061G>TCA353523001ROBO2c.2455G>T (p.Ala819Ser)
c.2503G>T (p.Ala835Ser)
c.2524G>T (p.Ala842Ser)
c.2443G>T (p.Ala815Ser)
c.*750G>T (n.*750G>T)
c.*887G>T (n.*887G>T)
c.2491G>T (p.Ala831Ser)
c.2059G>T (p.Ala687Ser)
c.664G>T (p.Ala222Ser)
c.2512G>T (p.Ala838Ser)
3g.77580062C>ACA353523002ROBO2c.2456C>A (p.Ala819Glu)
c.2504C>A (p.Ala835Glu)
c.2525C>A (p.Ala842Glu)
c.2444C>A (p.Ala815Glu)
c.*751C>A (n.*751C>A)
c.*888C>A (n.*888C>A)
c.2492C>A (p.Ala831Glu)
c.2060C>A (p.Ala687Glu)
c.665C>A (p.Ala222Glu)
c.2513C>A (p.Ala838Glu)
3g.77580062C>GCA353523003ROBO2c.2456C>G (p.Ala819Gly)
c.2504C>G (p.Ala835Gly)
c.2525C>G (p.Ala842Gly)
c.2444C>G (p.Ala815Gly)
c.*751C>G (n.*751C>G)
c.*888C>G (n.*888C>G)
c.2492C>G (p.Ala831Gly)
c.2060C>G (p.Ala687Gly)
c.665C>G (p.Ala222Gly)
c.2513C>G (p.Ala838Gly)
3g.77580062C>TCA353523004ROBO2c.2456C>T (p.Ala819Val)
c.2504C>T (p.Ala835Val)
c.2525C>T (p.Ala842Val)
c.2444C>T (p.Ala815Val)
c.*751C>T (n.*751C>T)
c.*888C>T (n.*888C>T)
c.2492C>T (p.Ala831Val)
c.2060C>T (p.Ala687Val)
c.665C>T (p.Ala222Val)
c.2513C>T (p.Ala838Val)
3g.77580063A>CCA434435942ROBO2c.2457A>C (p.Ala819=)
c.2505A>C (p.Ala835=)
c.2526A>C (p.Ala842=)
c.2445A>C (p.Ala815=)
c.*752A>C (n.*752A>C)
c.*889A>C (n.*889A>C)
c.2493A>C (p.Ala831=)
c.2061A>C (p.Ala687=)
c.666A>C (p.Ala222=)
c.2514A>C (p.Ala838=)
3g.77580063A>GCA434435943ROBO2c.2457A>G (p.Ala819=)
c.2505A>G (p.Ala835=)
c.2526A>G (p.Ala842=)
c.2445A>G (p.Ala815=)
c.*752A>G (n.*752A>G)
c.*889A>G (n.*889A>G)
c.2493A>G (p.Ala831=)
c.2061A>G (p.Ala687=)
c.666A>G (p.Ala222=)
c.2514A>G (p.Ala838=)
3g.77580063A>TCA434435944ROBO2c.2457A>T (p.Ala819=)
c.2505A>T (p.Ala835=)
c.2526A>T (p.Ala842=)
c.2445A>T (p.Ala815=)
c.*752A>T (n.*752A>T)
c.*889A>T (n.*889A>T)
c.2493A>T (p.Ala831=)
c.2061A>T (p.Ala687=)
c.666A>T (p.Ala222=)
c.2514A>T (p.Ala838=)
COSMIC COSMIC
3g.77580064G>ACA353523005ROBO2c.2458G>A (p.Ala820Thr)
c.2506G>A (p.Ala836Thr)
c.2527G>A (p.Ala843Thr)
c.2446G>A (p.Ala816Thr)
c.*753G>A (n.*753G>A)
c.*890G>A (n.*890G>A)
c.2494G>A (p.Ala832Thr)
c.2062G>A (p.Ala688Thr)
c.667G>A (p.Ala223Thr)
c.2515G>A (p.Ala839Thr)
3g.77580064G>CCA353523006ROBO2c.2458G>C (p.Ala820Pro)
c.2506G>C (p.Ala836Pro)
c.2527G>C (p.Ala843Pro)
c.2446G>C (p.Ala816Pro)
c.*753G>C (n.*753G>C)
c.*890G>C (n.*890G>C)
c.2494G>C (p.Ala832Pro)
c.2062G>C (p.Ala688Pro)
c.667G>C (p.Ala223Pro)
c.2515G>C (p.Ala839Pro)

Number of alleles fetched