Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71566439_71570715delCA1139532913DYSFc.2512-1512_3148del
c.2566-1512_3202del
c.2515-1512_3151del
c.2563-1512_3199del
c.2608-1512_3244del
c.2473-1512_3109del
c.2605-1512_3241del
c.2470-1512_3106del
n.2766-1512_3402del
2g.71566455_71570716delCA915942535DYSFc.2512-1496_3149del
c.2566-1496_3203del
c.2515-1496_3152del
c.2563-1496_3200del
c.2608-1496_3245del
c.2473-1496_3110del
c.2605-1496_3242del
c.2470-1496_3107del
n.2766-1496_3403del
 ClinVar
2g.71566456_71570715delCA891842855DYSFc.2512-1495_3148del
c.2566-1495_3202del
c.2515-1495_3151del
c.2563-1495_3199del
c.2608-1495_3244del
c.2473-1495_3109del
c.2605-1495_3241del
c.2470-1495_3106del
n.2766-1495_3402del
 ClinVar
2g.71567958T>ACA347213047DYSFc.2519T>A (p.Met840Lys)
c.2573T>A (p.Met858Lys)
c.2522T>A (p.Met841Lys)
c.2570T>A (p.Met857Lys)
c.2615T>A (p.Met872Lys)
c.2480T>A (p.Met827Lys)
c.2612T>A (p.Met871Lys)
c.2477T>A (p.Met826Lys)
n.2773T>A
2g.71567958T>CCA347213050DYSFc.2519T>C (p.Met840Thr)
c.2573T>C (p.Met858Thr)
c.2522T>C (p.Met841Thr)
c.2570T>C (p.Met857Thr)
c.2615T>C (p.Met872Thr)
c.2480T>C (p.Met827Thr)
c.2612T>C (p.Met871Thr)
c.2477T>C (p.Met826Thr)
n.2773T>C
 COSMIC COSMIC
2g.71567958T>GCA347213053DYSFc.2519T>G (p.Met840Arg)
c.2573T>G (p.Met858Arg)
c.2522T>G (p.Met841Arg)
c.2570T>G (p.Met857Arg)
c.2615T>G (p.Met872Arg)
c.2480T>G (p.Met827Arg)
c.2612T>G (p.Met871Arg)
c.2477T>G (p.Met826Arg)
n.2773T>G
2g.71567959G>ACA347213058DYSFc.2520G>A (p.Met840Ile)
c.2574G>A (p.Met858Ile)
c.2523G>A (p.Met841Ile)
c.2571G>A (p.Met857Ile)
c.2616G>A (p.Met872Ile)
c.2481G>A (p.Met827Ile)
c.2613G>A (p.Met871Ile)
c.2478G>A (p.Met826Ile)
n.2774G>A
 dbSNP
2g.71567959G>CCA347213061DYSFc.2520G>C (p.Met840Ile)
c.2574G>C (p.Met858Ile)
c.2523G>C (p.Met841Ile)
c.2571G>C (p.Met857Ile)
c.2616G>C (p.Met872Ile)
c.2481G>C (p.Met827Ile)
c.2613G>C (p.Met871Ile)
c.2478G>C (p.Met826Ile)
n.2774G>C
2g.71567959G=CA1260102668DYSFc.2520G= (p.Met840=)
c.2574G= (p.Met858=)
c.2523G= (p.Met841=)
c.2571G= (p.Met857=)
c.2616G= (p.Met872=)
c.2481G= (p.Met827=)
c.2613G= (p.Met871=)
c.2478G= (p.Met826=)
n.2774G=
2g.71567959G>TCA347213064DYSFc.2520G>T (p.Met840Ile)
c.2574G>T (p.Met858Ile)
c.2523G>T (p.Met841Ile)
c.2571G>T (p.Met857Ile)
c.2616G>T (p.Met872Ile)
c.2481G>T (p.Met827Ile)
c.2613G>T (p.Met871Ile)
c.2478G>T (p.Met826Ile)
n.2774G>T
2g.71567960G>ACA347213069DYSFc.2521G>A (p.Glu841Lys)
c.2575G>A (p.Glu859Lys)
c.2524G>A (p.Glu842Lys)
c.2572G>A (p.Glu858Lys)
c.2617G>A (p.Glu873Lys)
c.2482G>A (p.Glu828Lys)
c.2614G>A (p.Glu872Lys)
c.2479G>A (p.Glu827Lys)
n.2775G>A
 gnomAD v4
2g.71567960G>CCA347213065DYSFc.2521G>C (p.Glu841Gln)
c.2575G>C (p.Glu859Gln)
c.2524G>C (p.Glu842Gln)
c.2572G>C (p.Glu858Gln)
c.2617G>C (p.Glu873Gln)
c.2482G>C (p.Glu828Gln)
c.2614G>C (p.Glu872Gln)
c.2479G>C (p.Glu827Gln)
n.2775G>C
2g.71567960G>TCA347213066DYSFc.2521G>T (p.Glu841Ter)
c.2575G>T (p.Glu859Ter)
c.2524G>T (p.Glu842Ter)
c.2572G>T (p.Glu858Ter)
c.2617G>T (p.Glu873Ter)
c.2482G>T (p.Glu828Ter)
c.2614G>T (p.Glu872Ter)
c.2479G>T (p.Glu827Ter)
n.2775G>T
2g.71567961A>CCA347213075DYSFc.2522A>C (p.Glu841Ala)
c.2576A>C (p.Glu859Ala)
c.2525A>C (p.Glu842Ala)
c.2573A>C (p.Glu858Ala)
c.2618A>C (p.Glu873Ala)
c.2483A>C (p.Glu828Ala)
c.2615A>C (p.Glu872Ala)
c.2480A>C (p.Glu827Ala)
n.2776A>C
2g.71567961A>GCA347213078DYSFc.2522A>G (p.Glu841Gly)
c.2576A>G (p.Glu859Gly)
c.2525A>G (p.Glu842Gly)
c.2573A>G (p.Glu858Gly)
c.2618A>G (p.Glu873Gly)
c.2483A>G (p.Glu828Gly)
c.2615A>G (p.Glu872Gly)
c.2480A>G (p.Glu827Gly)
n.2776A>G
 gnomAD v4
2g.71567961A>TCA347213082DYSFc.2522A>T (p.Glu841Val)
c.2576A>T (p.Glu859Val)
c.2525A>T (p.Glu842Val)
c.2573A>T (p.Glu858Val)
c.2618A>T (p.Glu873Val)
c.2483A>T (p.Glu828Val)
c.2615A>T (p.Glu872Val)
c.2480A>T (p.Glu827Val)
n.2776A>T
2g.71567962G>ACA426701761DYSFc.2523G>A (p.Glu841=)
c.2577G>A (p.Glu859=)
c.2526G>A (p.Glu842=)
c.2574G>A (p.Glu858=)
c.2619G>A (p.Glu873=)
c.2484G>A (p.Glu828=)
c.2616G>A (p.Glu872=)
c.2481G>A (p.Glu827=)
n.2777G>A
2g.71567962G>CCA347213088DYSFc.2523G>C (p.Glu841Asp)
c.2577G>C (p.Glu859Asp)
c.2526G>C (p.Glu842Asp)
c.2574G>C (p.Glu858Asp)
c.2619G>C (p.Glu873Asp)
c.2484G>C (p.Glu828Asp)
c.2616G>C (p.Glu872Asp)
c.2481G>C (p.Glu827Asp)
n.2777G>C
2g.71567962G>TCA347213091DYSFc.2523G>T (p.Glu841Asp)
c.2577G>T (p.Glu859Asp)
c.2526G>T (p.Glu842Asp)
c.2574G>T (p.Glu858Asp)
c.2619G>T (p.Glu873Asp)
c.2484G>T (p.Glu828Asp)
c.2616G>T (p.Glu872Asp)
c.2481G>T (p.Glu827Asp)
n.2777G>T
2g.71567963A=CA1260102669DYSFc.2524A= (p.Lys842=)
c.2578A= (p.Lys860=)
c.2527A= (p.Lys843=)
c.2575A= (p.Lys859=)
c.2620A= (p.Lys874=)
c.2485A= (p.Lys829=)
c.2617A= (p.Lys873=)
c.2482A= (p.Lys828=)
n.2778A=
2g.71567963A>CCA347213095DYSFc.2524A>C (p.Lys842Gln)
c.2578A>C (p.Lys860Gln)
c.2527A>C (p.Lys843Gln)
c.2575A>C (p.Lys859Gln)
c.2620A>C (p.Lys874Gln)
c.2485A>C (p.Lys829Gln)
c.2617A>C (p.Lys873Gln)
c.2482A>C (p.Lys828Gln)
n.2778A>C
2g.71567963A>GCA347213098DYSFc.2524A>G (p.Lys842Glu)
c.2578A>G (p.Lys860Glu)
c.2527A>G (p.Lys843Glu)
c.2575A>G (p.Lys859Glu)
c.2620A>G (p.Lys874Glu)
c.2485A>G (p.Lys829Glu)
c.2617A>G (p.Lys873Glu)
c.2482A>G (p.Lys828Glu)
n.2778A>G
 gnomAD v4
2g.71567963A>TCA347213101DYSFc.2524A>T (p.Lys842Ter)
c.2578A>T (p.Lys860Ter)
c.2527A>T (p.Lys843Ter)
c.2575A>T (p.Lys859Ter)
c.2620A>T (p.Lys874Ter)
c.2485A>T (p.Lys829Ter)
c.2617A>T (p.Lys873Ter)
c.2482A>T (p.Lys828Ter)
n.2778A>T
 ClinVar dbSNP
2g.71567964A>CCA347213105DYSFc.2525A>C (p.Lys842Thr)
c.2579A>C (p.Lys860Thr)
c.2528A>C (p.Lys843Thr)
c.2576A>C (p.Lys859Thr)
c.2621A>C (p.Lys874Thr)
c.2486A>C (p.Lys829Thr)
c.2618A>C (p.Lys873Thr)
c.2483A>C (p.Lys828Thr)
n.2779A>C
2g.71567964A>GCA347213107DYSFc.2525A>G (p.Lys842Arg)
c.2579A>G (p.Lys860Arg)
c.2528A>G (p.Lys843Arg)
c.2576A>G (p.Lys859Arg)
c.2621A>G (p.Lys874Arg)
c.2486A>G (p.Lys829Arg)
c.2618A>G (p.Lys873Arg)
c.2483A>G (p.Lys828Arg)
n.2779A>G
2g.71567964A>TCA347213112DYSFc.2525A>T (p.Lys842Met)
c.2579A>T (p.Lys860Met)
c.2528A>T (p.Lys843Met)
c.2576A>T (p.Lys859Met)
c.2621A>T (p.Lys874Met)
c.2486A>T (p.Lys829Met)
c.2618A>T (p.Lys873Met)
c.2483A>T (p.Lys828Met)
n.2779A>T
2g.71567965G>ACA426701762DYSFc.2526G>A (p.Lys842=)
c.2580G>A (p.Lys860=)
c.2529G>A (p.Lys843=)
c.2577G>A (p.Lys859=)
c.2622G>A (p.Lys874=)
c.2487G>A (p.Lys829=)
c.2619G>A (p.Lys873=)
c.2484G>A (p.Lys828=)
n.2780G>A
2g.71567965G>CCA347213115DYSFc.2526G>C (p.Lys842Asn)
c.2580G>C (p.Lys860Asn)
c.2529G>C (p.Lys843Asn)
c.2577G>C (p.Lys859Asn)
c.2622G>C (p.Lys874Asn)
c.2487G>C (p.Lys829Asn)
c.2619G>C (p.Lys873Asn)
c.2484G>C (p.Lys828Asn)
n.2780G>C
2g.71567965G>TCA347213118DYSFc.2526G>T (p.Lys842Asn)
c.2580G>T (p.Lys860Asn)
c.2529G>T (p.Lys843Asn)
c.2577G>T (p.Lys859Asn)
c.2622G>T (p.Lys874Asn)
c.2487G>T (p.Lys829Asn)
c.2619G>T (p.Lys873Asn)
c.2484G>T (p.Lys828Asn)
n.2780G>T
2g.71567966G>ACA347213122DYSFc.2527G>A (p.Val843Met)
c.2581G>A (p.Val861Met)
c.2530G>A (p.Val844Met)
c.2578G>A (p.Val860Met)
c.2623G>A (p.Val875Met)
c.2488G>A (p.Val830Met)
c.2620G>A (p.Val874Met)
c.2485G>A (p.Val829Met)
n.2781G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71567966G>CCA347213129DYSFc.2527G>C (p.Val843Leu)
c.2581G>C (p.Val861Leu)
c.2530G>C (p.Val844Leu)
c.2578G>C (p.Val860Leu)
c.2623G>C (p.Val875Leu)
c.2488G>C (p.Val830Leu)
c.2620G>C (p.Val874Leu)
c.2485G>C (p.Val829Leu)
n.2781G>C
2g.71567966G=CA1260102670DYSFc.2527G= (p.Val843=)
c.2581G= (p.Val861=)
c.2530G= (p.Val844=)
c.2578G= (p.Val860=)
c.2623G= (p.Val875=)
c.2488G= (p.Val830=)
c.2620G= (p.Val874=)
c.2485G= (p.Val829=)
n.2781G=
2g.71567966G>TCA49744667DYSFc.2527G>T (p.Val843Leu)
c.2581G>T (p.Val861Leu)
c.2530G>T (p.Val844Leu)
c.2578G>T (p.Val860Leu)
c.2623G>T (p.Val875Leu)
c.2488G>T (p.Val830Leu)
c.2620G>T (p.Val874Leu)
c.2485G>T (p.Val829Leu)
n.2781G>T
 dbSNP
2g.71567967T>ACA347213135DYSFc.2528T>A (p.Val843Glu)
c.2582T>A (p.Val861Glu)
c.2531T>A (p.Val844Glu)
c.2579T>A (p.Val860Glu)
c.2624T>A (p.Val875Glu)
c.2489T>A (p.Val830Glu)
c.2621T>A (p.Val874Glu)
c.2486T>A (p.Val829Glu)
n.2782T>A
2g.71567967T>CCA347213139DYSFc.2528T>C (p.Val843Ala)
c.2582T>C (p.Val861Ala)
c.2531T>C (p.Val844Ala)
c.2579T>C (p.Val860Ala)
c.2624T>C (p.Val875Ala)
c.2489T>C (p.Val830Ala)
c.2621T>C (p.Val874Ala)
c.2486T>C (p.Val829Ala)
n.2782T>C
2g.71567967T>GCA347213142DYSFc.2528T>G (p.Val843Gly)
c.2582T>G (p.Val861Gly)
c.2531T>G (p.Val844Gly)
c.2579T>G (p.Val860Gly)
c.2624T>G (p.Val875Gly)
c.2489T>G (p.Val830Gly)
c.2621T>G (p.Val874Gly)
c.2486T>G (p.Val829Gly)
n.2782T>G
2g.71567968G>ACA1706228DYSFc.2529G>A (p.Val843=)
c.2583G>A (p.Val861=)
c.2532G>A (p.Val844=)
c.2580G>A (p.Val860=)
c.2625G>A (p.Val875=)
c.2490G>A (p.Val830=)
c.2622G>A (p.Val874=)
c.2487G>A (p.Val829=)
n.2783G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71567968G>CCA49744670DYSFc.2529G>C (p.Val843=)
c.2583G>C (p.Val861=)
c.2532G>C (p.Val844=)
c.2580G>C (p.Val860=)
c.2625G>C (p.Val875=)
c.2490G>C (p.Val830=)
c.2622G>C (p.Val874=)
c.2487G>C (p.Val829=)
n.2783G>C
 ClinVar dbSNP
2g.71567968G=CA1260102671DYSFc.2529G= (p.Val843=)
c.2583G= (p.Val861=)
c.2532G= (p.Val844=)
c.2580G= (p.Val860=)
c.2625G= (p.Val875=)
c.2490G= (p.Val830=)
c.2622G= (p.Val874=)
c.2487G= (p.Val829=)
n.2783G=
2g.71567968G>TCA426701763DYSFc.2529G>T (p.Val843=)
c.2583G>T (p.Val861=)
c.2532G>T (p.Val844=)
c.2580G>T (p.Val860=)
c.2625G>T (p.Val875=)
c.2490G>T (p.Val830=)
c.2622G>T (p.Val874=)
c.2487G>T (p.Val829=)
n.2783G>T
2g.71567969C>ACA347213151DYSFc.2530C>A (p.Pro844Thr)
c.2584C>A (p.Pro862Thr)
c.2533C>A (p.Pro845Thr)
c.2581C>A (p.Pro861Thr)
c.2626C>A (p.Pro876Thr)
c.2491C>A (p.Pro831Thr)
c.2623C>A (p.Pro875Thr)
c.2488C>A (p.Pro830Thr)
n.2784C>A
2g.71567969C>GCA347213154DYSFc.2530C>G (p.Pro844Ala)
c.2584C>G (p.Pro862Ala)
c.2533C>G (p.Pro845Ala)
c.2581C>G (p.Pro861Ala)
c.2626C>G (p.Pro876Ala)
c.2491C>G (p.Pro831Ala)
c.2623C>G (p.Pro875Ala)
c.2488C>G (p.Pro830Ala)
n.2784C>G
2g.71567969C>TCA347213157DYSFc.2530C>T (p.Pro844Ser)
c.2584C>T (p.Pro862Ser)
c.2533C>T (p.Pro845Ser)
c.2581C>T (p.Pro861Ser)
c.2626C>T (p.Pro876Ser)
c.2491C>T (p.Pro831Ser)
c.2623C>T (p.Pro875Ser)
c.2488C>T (p.Pro830Ser)
n.2784C>T
2g.71567970C>ACA347213160DYSFc.2531C>A (p.Pro844His)
c.2585C>A (p.Pro862His)
c.2534C>A (p.Pro845His)
c.2582C>A (p.Pro861His)
c.2627C>A (p.Pro876His)
c.2492C>A (p.Pro831His)
c.2624C>A (p.Pro875His)
c.2489C>A (p.Pro830His)
n.2785C>A
2g.71567970C>GCA347213163DYSFc.2531C>G (p.Pro844Arg)
c.2585C>G (p.Pro862Arg)
c.2534C>G (p.Pro845Arg)
c.2582C>G (p.Pro861Arg)
c.2627C>G (p.Pro876Arg)
c.2492C>G (p.Pro831Arg)
c.2624C>G (p.Pro875Arg)
c.2489C>G (p.Pro830Arg)
n.2785C>G
2g.71567970C>TCA347213166DYSFc.2531C>T (p.Pro844Leu)
c.2585C>T (p.Pro862Leu)
c.2534C>T (p.Pro845Leu)
c.2582C>T (p.Pro861Leu)
c.2627C>T (p.Pro876Leu)
c.2492C>T (p.Pro831Leu)
c.2624C>T (p.Pro875Leu)
c.2489C>T (p.Pro830Leu)
n.2785C>T
2g.71567971T>ACA426701766DYSFc.2532T>A (p.Pro844=)
c.2586T>A (p.Pro862=)
c.2535T>A (p.Pro845=)
c.2583T>A (p.Pro861=)
c.2628T>A (p.Pro876=)
c.2493T>A (p.Pro831=)
c.2625T>A (p.Pro875=)
c.2490T>A (p.Pro830=)
n.2786T>A
 COSMIC
2g.71567971T>CCA426701764DYSFc.2532T>C (p.Pro844=)
c.2586T>C (p.Pro862=)
c.2535T>C (p.Pro845=)
c.2583T>C (p.Pro861=)
c.2628T>C (p.Pro876=)
c.2493T>C (p.Pro831=)
c.2625T>C (p.Pro875=)
c.2490T>C (p.Pro830=)
n.2786T>C
2g.71567971T>GCA426701765DYSFc.2532T>G (p.Pro844=)
c.2586T>G (p.Pro862=)
c.2535T>G (p.Pro845=)
c.2583T>G (p.Pro861=)
c.2628T>G (p.Pro876=)
c.2493T>G (p.Pro831=)
c.2625T>G (p.Pro875=)
c.2490T>G (p.Pro830=)
n.2786T>G
2g.71567971dupCA2659548625DYSFc.2532dup (p.Gly845TrpfsTer20)
c.2586dup (p.Gly863TrpfsTer20)
c.2535dup (p.Gly846TrpfsTer20)
c.2583dup (p.Gly862TrpfsTer20)
c.2628dup (p.Gly877TrpfsTer20)
c.2493dup (p.Gly832TrpfsTer20)
c.2625dup (p.Gly876TrpfsTer20)
c.2490dup (p.Gly831TrpfsTer20)
n.2786dup
 gnomAD v4

Number of alleles fetched