Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.71561848G>ACA1706118DYSFc.2259G>A (p.Glu753=)
c.2313G>A (p.Glu771=)
c.2262G>A (p.Glu754=)
c.2310G>A (p.Glu770=)
c.2355G>A (p.Glu785=)
c.2220G>A (p.Glu740=)
c.2352G>A (p.Glu784=)
c.2217G>A (p.Glu739=)
n.2513G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561848G>CCA347209443DYSFc.2259G>C (p.Glu753Asp)
c.2313G>C (p.Glu771Asp)
c.2262G>C (p.Glu754Asp)
c.2310G>C (p.Glu770Asp)
c.2355G>C (p.Glu785Asp)
c.2220G>C (p.Glu740Asp)
c.2352G>C (p.Glu784Asp)
c.2217G>C (p.Glu739Asp)
n.2513G>C
2g.71561848G=CA1260098779DYSFc.2259G= (p.Glu753=)
c.2313G= (p.Glu771=)
c.2262G= (p.Glu754=)
c.2310G= (p.Glu770=)
c.2355G= (p.Glu785=)
c.2220G= (p.Glu740=)
c.2352G= (p.Glu784=)
c.2217G= (p.Glu739=)
n.2513G=
2g.71561848G>TCA347209449DYSFc.2259G>T (p.Glu753Asp)
c.2313G>T (p.Glu771Asp)
c.2262G>T (p.Glu754Asp)
c.2310G>T (p.Glu770Asp)
c.2355G>T (p.Glu785Asp)
c.2220G>T (p.Glu740Asp)
c.2352G>T (p.Glu784Asp)
c.2217G>T (p.Glu739Asp)
n.2513G>T
2g.71561849G>ACA347209455DYSFc.2260G>A (p.Ala754Thr)
c.2314G>A (p.Ala772Thr)
c.2263G>A (p.Ala755Thr)
c.2311G>A (p.Ala771Thr)
c.2356G>A (p.Ala786Thr)
c.2221G>A (p.Ala741Thr)
c.2353G>A (p.Ala785Thr)
c.2218G>A (p.Ala740Thr)
n.2514G>A
2g.71561849G>CCA347209474DYSFc.2260G>C (p.Ala754Pro)
c.2314G>C (p.Ala772Pro)
c.2263G>C (p.Ala755Pro)
c.2311G>C (p.Ala771Pro)
c.2356G>C (p.Ala786Pro)
c.2221G>C (p.Ala741Pro)
c.2353G>C (p.Ala785Pro)
c.2218G>C (p.Ala740Pro)
n.2514G>C
2g.71561849G>TCA347209470DYSFc.2260G>T (p.Ala754Ser)
c.2314G>T (p.Ala772Ser)
c.2263G>T (p.Ala755Ser)
c.2311G>T (p.Ala771Ser)
c.2356G>T (p.Ala786Ser)
c.2221G>T (p.Ala741Ser)
c.2353G>T (p.Ala785Ser)
c.2218G>T (p.Ala740Ser)
n.2514G>T
2g.71561850C>ACA347209475DYSFc.2261C>A (p.Ala754Asp)
c.2315C>A (p.Ala772Asp)
c.2264C>A (p.Ala755Asp)
c.2312C>A (p.Ala771Asp)
c.2357C>A (p.Ala786Asp)
c.2222C>A (p.Ala741Asp)
c.2354C>A (p.Ala785Asp)
c.2219C>A (p.Ala740Asp)
n.2515C>A
2g.71561850C>GCA347209480DYSFc.2261C>G (p.Ala754Gly)
c.2315C>G (p.Ala772Gly)
c.2264C>G (p.Ala755Gly)
c.2312C>G (p.Ala771Gly)
c.2357C>G (p.Ala786Gly)
c.2222C>G (p.Ala741Gly)
c.2354C>G (p.Ala785Gly)
c.2219C>G (p.Ala740Gly)
n.2515C>G
2g.71561850C>TCA347209477DYSFc.2261C>T (p.Ala754Val)
c.2315C>T (p.Ala772Val)
c.2264C>T (p.Ala755Val)
c.2312C>T (p.Ala771Val)
c.2357C>T (p.Ala786Val)
c.2222C>T (p.Ala741Val)
c.2354C>T (p.Ala785Val)
c.2219C>T (p.Ala740Val)
n.2515C>T
2g.71561851T>ACA426701581DYSFc.2262T>A (p.Ala754=)
c.2316T>A (p.Ala772=)
c.2265T>A (p.Ala755=)
c.2313T>A (p.Ala771=)
c.2358T>A (p.Ala786=)
c.2223T>A (p.Ala741=)
c.2355T>A (p.Ala785=)
c.2220T>A (p.Ala740=)
n.2516T>A
2g.71561851T>CCA1706119DYSFc.2262T>C (p.Ala754=)
c.2316T>C (p.Ala772=)
c.2265T>C (p.Ala755=)
c.2313T>C (p.Ala771=)
c.2358T>C (p.Ala786=)
c.2223T>C (p.Ala741=)
c.2355T>C (p.Ala785=)
c.2220T>C (p.Ala740=)
n.2516T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561851T>GCA426701582DYSFc.2262T>G (p.Ala754=)
c.2316T>G (p.Ala772=)
c.2265T>G (p.Ala755=)
c.2313T>G (p.Ala771=)
c.2358T>G (p.Ala786=)
c.2223T>G (p.Ala741=)
c.2355T>G (p.Ala785=)
c.2220T>G (p.Ala740=)
n.2516T>G
2g.71561851T=CA1260098784DYSFc.2262T= (p.Ala754=)
c.2316T= (p.Ala772=)
c.2265T= (p.Ala755=)
c.2313T= (p.Ala771=)
c.2358T= (p.Ala786=)
c.2223T= (p.Ala741=)
c.2355T= (p.Ala785=)
c.2220T= (p.Ala740=)
n.2516T=
2g.71561852G>ACA347209488DYSFc.2263G>A (p.Ala755Thr)
c.2317G>A (p.Ala773Thr)
c.2266G>A (p.Ala756Thr)
c.2314G>A (p.Ala772Thr)
c.2359G>A (p.Ala787Thr)
c.2224G>A (p.Ala742Thr)
c.2356G>A (p.Ala786Thr)
c.2221G>A (p.Ala741Thr)
n.2517G>A
 gnomAD v4
2g.71561852G>CCA347209486DYSFc.2263G>C (p.Ala755Pro)
c.2317G>C (p.Ala773Pro)
c.2266G>C (p.Ala756Pro)
c.2314G>C (p.Ala772Pro)
c.2359G>C (p.Ala787Pro)
c.2224G>C (p.Ala742Pro)
c.2356G>C (p.Ala786Pro)
c.2221G>C (p.Ala741Pro)
n.2517G>C
2g.71561852G>TCA347209487DYSFc.2263G>T (p.Ala755Ser)
c.2317G>T (p.Ala773Ser)
c.2266G>T (p.Ala756Ser)
c.2314G>T (p.Ala772Ser)
c.2359G>T (p.Ala787Ser)
c.2224G>T (p.Ala742Ser)
c.2356G>T (p.Ala786Ser)
c.2221G>T (p.Ala741Ser)
n.2517G>T
 gnomAD v4
2g.71561853C>ACA347209491DYSFc.2264C>A (p.Ala755Asp)
c.2318C>A (p.Ala773Asp)
c.2267C>A (p.Ala756Asp)
c.2315C>A (p.Ala772Asp)
c.2360C>A (p.Ala787Asp)
c.2225C>A (p.Ala742Asp)
c.2357C>A (p.Ala786Asp)
c.2222C>A (p.Ala741Asp)
n.2518C>A
2g.71561853C=CA1260098786DYSFc.2264C= (p.Ala755=)
c.2318C= (p.Ala773=)
c.2267C= (p.Ala756=)
c.2315C= (p.Ala772=)
c.2360C= (p.Ala787=)
c.2225C= (p.Ala742=)
c.2357C= (p.Ala786=)
c.2222C= (p.Ala741=)
n.2518C=
2g.71561853C>GCA347209495DYSFc.2264C>G (p.Ala755Gly)
c.2318C>G (p.Ala773Gly)
c.2267C>G (p.Ala756Gly)
c.2315C>G (p.Ala772Gly)
c.2360C>G (p.Ala787Gly)
c.2225C>G (p.Ala742Gly)
c.2357C>G (p.Ala786Gly)
c.2222C>G (p.Ala741Gly)
n.2518C>G
2g.71561853C>TCA347209500DYSFc.2264C>T (p.Ala755Val)
c.2318C>T (p.Ala773Val)
c.2267C>T (p.Ala756Val)
c.2315C>T (p.Ala772Val)
c.2360C>T (p.Ala787Val)
c.2225C>T (p.Ala742Val)
c.2357C>T (p.Ala786Val)
c.2222C>T (p.Ala741Val)
n.2518C>T
 dbSNP gnomAD v2 gnomAD v4
2g.71561854C>ACA426701583DYSFc.2265C>A (p.Ala755=)
c.2319C>A (p.Ala773=)
c.2268C>A (p.Ala756=)
c.2316C>A (p.Ala772=)
c.2361C>A (p.Ala787=)
c.2226C>A (p.Ala742=)
c.2358C>A (p.Ala786=)
c.2223C>A (p.Ala741=)
n.2519C>A
2g.71561854C=CA1260098787DYSFc.2265C= (p.Ala755=)
c.2319C= (p.Ala773=)
c.2268C= (p.Ala756=)
c.2316C= (p.Ala772=)
c.2361C= (p.Ala787=)
c.2226C= (p.Ala742=)
c.2358C= (p.Ala786=)
c.2223C= (p.Ala741=)
n.2519C=
2g.71561854C>GCA426701584DYSFc.2265C>G (p.Ala755=)
c.2319C>G (p.Ala773=)
c.2268C>G (p.Ala756=)
c.2316C>G (p.Ala772=)
c.2361C>G (p.Ala787=)
c.2226C>G (p.Ala742=)
c.2358C>G (p.Ala786=)
c.2223C>G (p.Ala741=)
n.2519C>G
2g.71561854C>TCA426701585DYSFc.2265C>T (p.Ala755=)
c.2319C>T (p.Ala773=)
c.2268C>T (p.Ala756=)
c.2316C>T (p.Ala772=)
c.2361C>T (p.Ala787=)
c.2226C>T (p.Ala742=)
c.2358C>T (p.Ala786=)
c.2223C>T (p.Ala741=)
n.2519C>T
 dbSNP gnomAD v4
2g.71561855C>ACA347209501DYSFc.2266C>A (p.Leu756Met)
c.2320C>A (p.Leu774Met)
c.2269C>A (p.Leu757Met)
c.2317C>A (p.Leu773Met)
c.2362C>A (p.Leu788Met)
c.2227C>A (p.Leu743Met)
c.2359C>A (p.Leu787Met)
c.2224C>A (p.Leu742Met)
n.2520C>A
2g.71561855C>GCA347209502DYSFc.2266C>G (p.Leu756Val)
c.2320C>G (p.Leu774Val)
c.2269C>G (p.Leu757Val)
c.2317C>G (p.Leu773Val)
c.2362C>G (p.Leu788Val)
c.2227C>G (p.Leu743Val)
c.2359C>G (p.Leu787Val)
c.2224C>G (p.Leu742Val)
n.2520C>G
2g.71561855C>TCA426701586DYSFc.2266C>T (p.Leu756=)
c.2320C>T (p.Leu774=)
c.2269C>T (p.Leu757=)
c.2317C>T (p.Leu773=)
c.2362C>T (p.Leu788=)
c.2227C>T (p.Leu743=)
c.2359C>T (p.Leu787=)
c.2224C>T (p.Leu742=)
n.2520C>T
 gnomAD v4
2g.71561856T>ACA347209507DYSFc.2267T>A (p.Leu756Gln)
c.2321T>A (p.Leu774Gln)
c.2270T>A (p.Leu757Gln)
c.2318T>A (p.Leu773Gln)
c.2363T>A (p.Leu788Gln)
c.2228T>A (p.Leu743Gln)
c.2360T>A (p.Leu787Gln)
c.2225T>A (p.Leu742Gln)
n.2521T>A
2g.71561856T>CCA347209510DYSFc.2267T>C (p.Leu756Pro)
c.2321T>C (p.Leu774Pro)
c.2270T>C (p.Leu757Pro)
c.2318T>C (p.Leu773Pro)
c.2363T>C (p.Leu788Pro)
c.2228T>C (p.Leu743Pro)
c.2360T>C (p.Leu787Pro)
c.2225T>C (p.Leu742Pro)
n.2521T>C
2g.71561856T>GCA347209515DYSFc.2267T>G (p.Leu756Arg)
c.2321T>G (p.Leu774Arg)
c.2270T>G (p.Leu757Arg)
c.2318T>G (p.Leu773Arg)
c.2363T>G (p.Leu788Arg)
c.2228T>G (p.Leu743Arg)
c.2360T>G (p.Leu787Arg)
c.2225T>G (p.Leu742Arg)
n.2521T>G
2g.71561857G>ACA426701587DYSFc.2268G>A (p.Leu756=)
c.2322G>A (p.Leu774=)
c.2271G>A (p.Leu757=)
c.2319G>A (p.Leu773=)
c.2364G>A (p.Leu788=)
c.2229G>A (p.Leu743=)
c.2361G>A (p.Leu787=)
c.2226G>A (p.Leu742=)
n.2522G>A
2g.71561857G>CCA426701588DYSFc.2268G>C (p.Leu756=)
c.2322G>C (p.Leu774=)
c.2271G>C (p.Leu757=)
c.2319G>C (p.Leu773=)
c.2364G>C (p.Leu788=)
c.2229G>C (p.Leu743=)
c.2361G>C (p.Leu787=)
c.2226G>C (p.Leu742=)
n.2522G>C
2g.71561857G>TCA426701589DYSFc.2268G>T (p.Leu756=)
c.2322G>T (p.Leu774=)
c.2271G>T (p.Leu757=)
c.2319G>T (p.Leu773=)
c.2364G>T (p.Leu788=)
c.2229G>T (p.Leu743=)
c.2361G>T (p.Leu787=)
c.2226G>T (p.Leu742=)
n.2522G>T
2g.71561858G>ACA1706120DYSFc.2269G>A (p.Ala757Thr)
c.2323G>A (p.Ala775Thr)
c.2272G>A (p.Ala758Thr)
c.2320G>A (p.Ala774Thr)
c.2365G>A (p.Ala789Thr)
c.2230G>A (p.Ala744Thr)
c.2362G>A (p.Ala788Thr)
c.2227G>A (p.Ala743Thr)
n.2523G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561858G>CCA347209524DYSFc.2269G>C (p.Ala757Pro)
c.2323G>C (p.Ala775Pro)
c.2272G>C (p.Ala758Pro)
c.2320G>C (p.Ala774Pro)
c.2365G>C (p.Ala789Pro)
c.2230G>C (p.Ala744Pro)
c.2362G>C (p.Ala788Pro)
c.2227G>C (p.Ala743Pro)
n.2523G>C
2g.71561858G=CA1260098788DYSFc.2269G= (p.Ala757=)
c.2323G= (p.Ala775=)
c.2272G= (p.Ala758=)
c.2320G= (p.Ala774=)
c.2365G= (p.Ala789=)
c.2230G= (p.Ala744=)
c.2362G= (p.Ala788=)
c.2227G= (p.Ala743=)
n.2523G=
2g.71561858G>TCA347209519DYSFc.2269G>T (p.Ala757Ser)
c.2323G>T (p.Ala775Ser)
c.2272G>T (p.Ala758Ser)
c.2320G>T (p.Ala774Ser)
c.2365G>T (p.Ala789Ser)
c.2230G>T (p.Ala744Ser)
c.2362G>T (p.Ala788Ser)
c.2227G>T (p.Ala743Ser)
n.2523G>T
2g.71561859C>ACA347209526DYSFc.2270C>A (p.Ala757Asp)
c.2324C>A (p.Ala775Asp)
c.2273C>A (p.Ala758Asp)
c.2321C>A (p.Ala774Asp)
c.2366C>A (p.Ala789Asp)
c.2231C>A (p.Ala744Asp)
c.2363C>A (p.Ala788Asp)
c.2228C>A (p.Ala743Asp)
n.2524C>A
 gnomAD v4
2g.71561859C=CA1260098789DYSFc.2270C= (p.Ala757=)
c.2324C= (p.Ala775=)
c.2273C= (p.Ala758=)
c.2321C= (p.Ala774=)
c.2366C= (p.Ala789=)
c.2231C= (p.Ala744=)
c.2363C= (p.Ala788=)
c.2228C= (p.Ala743=)
n.2524C=
2g.71561859C>GCA347209538DYSFc.2270C>G (p.Ala757Gly)
c.2324C>G (p.Ala775Gly)
c.2273C>G (p.Ala758Gly)
c.2321C>G (p.Ala774Gly)
c.2366C>G (p.Ala789Gly)
c.2231C>G (p.Ala744Gly)
c.2363C>G (p.Ala788Gly)
c.2228C>G (p.Ala743Gly)
n.2524C>G
2g.71561859C>TCA1706121DYSFc.2270C>T (p.Ala757Val)
c.2324C>T (p.Ala775Val)
c.2273C>T (p.Ala758Val)
c.2321C>T (p.Ala774Val)
c.2366C>T (p.Ala789Val)
c.2231C>T (p.Ala744Val)
c.2363C>T (p.Ala788Val)
c.2228C>T (p.Ala743Val)
n.2524C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561860C>ACA426701590DYSFc.2271C>A (p.Ala757=)
c.2325C>A (p.Ala775=)
c.2274C>A (p.Ala758=)
c.2322C>A (p.Ala774=)
c.2367C>A (p.Ala789=)
c.2232C>A (p.Ala744=)
c.2364C>A (p.Ala788=)
c.2229C>A (p.Ala743=)
n.2525C>A
2g.71561860C>GCA426701591DYSFc.2271C>G (p.Ala757=)
c.2325C>G (p.Ala775=)
c.2274C>G (p.Ala758=)
c.2322C>G (p.Ala774=)
c.2367C>G (p.Ala789=)
c.2232C>G (p.Ala744=)
c.2364C>G (p.Ala788=)
c.2229C>G (p.Ala743=)
n.2525C>G
2g.71561860C>TCA426701592DYSFc.2271C>T (p.Ala757=)
c.2325C>T (p.Ala775=)
c.2274C>T (p.Ala758=)
c.2322C>T (p.Ala774=)
c.2367C>T (p.Ala789=)
c.2232C>T (p.Ala744=)
c.2364C>T (p.Ala788=)
c.2229C>T (p.Ala743=)
n.2525C>T
2g.71561861C>ACA347209547DYSFc.2272C>A (p.Leu758Met)
c.2326C>A (p.Leu776Met)
c.2275C>A (p.Leu759Met)
c.2323C>A (p.Leu775Met)
c.2368C>A (p.Leu790Met)
c.2233C>A (p.Leu745Met)
c.2365C>A (p.Leu789Met)
c.2230C>A (p.Leu744Met)
n.2526C>A
 gnomAD v4
2g.71561861C>GCA347209552DYSFc.2272C>G (p.Leu758Val)
c.2326C>G (p.Leu776Val)
c.2275C>G (p.Leu759Val)
c.2323C>G (p.Leu775Val)
c.2368C>G (p.Leu790Val)
c.2233C>G (p.Leu745Val)
c.2365C>G (p.Leu789Val)
c.2230C>G (p.Leu744Val)
n.2526C>G
2g.71561861C>TCA426701593DYSFc.2272C>T (p.Leu758=)
c.2326C>T (p.Leu776=)
c.2275C>T (p.Leu759=)
c.2323C>T (p.Leu775=)
c.2368C>T (p.Leu790=)
c.2233C>T (p.Leu745=)
c.2365C>T (p.Leu789=)
c.2230C>T (p.Leu744=)
n.2526C>T
 ClinVar dbSNP
2g.71561862T>ACA347209557DYSFc.2273T>A (p.Leu758Gln)
c.2327T>A (p.Leu776Gln)
c.2276T>A (p.Leu759Gln)
c.2324T>A (p.Leu775Gln)
c.2369T>A (p.Leu790Gln)
c.2234T>A (p.Leu745Gln)
c.2366T>A (p.Leu789Gln)
c.2231T>A (p.Leu744Gln)
n.2527T>A
2g.71561862T>CCA347209563DYSFc.2273T>C (p.Leu758Pro)
c.2327T>C (p.Leu776Pro)
c.2276T>C (p.Leu759Pro)
c.2324T>C (p.Leu775Pro)
c.2369T>C (p.Leu790Pro)
c.2234T>C (p.Leu745Pro)
c.2366T>C (p.Leu789Pro)
c.2231T>C (p.Leu744Pro)
n.2527T>C
2g.71561862T>GCA347209567DYSFc.2273T>G (p.Leu758Arg)
c.2327T>G (p.Leu776Arg)
c.2276T>G (p.Leu759Arg)
c.2324T>G (p.Leu775Arg)
c.2369T>G (p.Leu790Arg)
c.2234T>G (p.Leu745Arg)
c.2366T>G (p.Leu789Arg)
c.2231T>G (p.Leu744Arg)
n.2527T>G
2g.71561863G>ACA426701594DYSFc.2274G>A (p.Leu758=)
c.2328G>A (p.Leu776=)
c.2277G>A (p.Leu759=)
c.2325G>A (p.Leu775=)
c.2370G>A (p.Leu790=)
c.2235G>A (p.Leu745=)
c.2367G>A (p.Leu789=)
c.2232G>A (p.Leu744=)
n.2528G>A
2g.71561863G>CCA426701595DYSFc.2274G>C (p.Leu758=)
c.2328G>C (p.Leu776=)
c.2277G>C (p.Leu759=)
c.2325G>C (p.Leu775=)
c.2370G>C (p.Leu790=)
c.2235G>C (p.Leu745=)
c.2367G>C (p.Leu789=)
c.2232G>C (p.Leu744=)
n.2528G>C
2g.71561863G>TCA426701596DYSFc.2274G>T (p.Leu758=)
c.2328G>T (p.Leu776=)
c.2277G>T (p.Leu759=)
c.2325G>T (p.Leu775=)
c.2370G>T (p.Leu790=)
c.2235G>T (p.Leu745=)
c.2367G>T (p.Leu789=)
c.2232G>T (p.Leu744=)
n.2528G>T
2g.71561864A>CCA347209568DYSFc.2275A>C (p.Lys759Gln)
c.2329A>C (p.Lys777Gln)
c.2278A>C (p.Lys760Gln)
c.2326A>C (p.Lys776Gln)
c.2371A>C (p.Lys791Gln)
c.2236A>C (p.Lys746Gln)
c.2368A>C (p.Lys790Gln)
c.2233A>C (p.Lys745Gln)
n.2529A>C
2g.71561864A>GCA347209569DYSFc.2275A>G (p.Lys759Glu)
c.2329A>G (p.Lys777Glu)
c.2278A>G (p.Lys760Glu)
c.2326A>G (p.Lys776Glu)
c.2371A>G (p.Lys791Glu)
c.2236A>G (p.Lys746Glu)
c.2368A>G (p.Lys790Glu)
c.2233A>G (p.Lys745Glu)
n.2529A>G
2g.71561864A>TCA347209570DYSFc.2275A>T (p.Lys759Ter)
c.2329A>T (p.Lys777Ter)
c.2278A>T (p.Lys760Ter)
c.2326A>T (p.Lys776Ter)
c.2371A>T (p.Lys791Ter)
c.2236A>T (p.Lys746Ter)
c.2368A>T (p.Lys790Ter)
c.2233A>T (p.Lys745Ter)
n.2529A>T
2g.71561864_71561889delinsAAGCTCGGCCACAGTGAGCTCCCTGCCA1260098791DYSFc.2275_2300delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys759=)
c.2329_2354delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys777=)
c.2278_2303delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys760=)
c.2326_2351delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys776=)
c.2371_2396delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys791=)
c.2236_2261delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys746=)
c.2368_2393delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys790=)
c.2233_2258delinsAAGCTCGGCCACAGTGAGCTCCCTGC (p.Lys745=)
n.2529_2554delinsAAGCTCGGCCACAGTGAGCTCCCTGC
2g.71561865A=CA1260098797DYSFc.2276A= (p.Lys759=)
c.2330A= (p.Lys777=)
c.2279A= (p.Lys760=)
c.2327A= (p.Lys776=)
c.2372A= (p.Lys791=)
c.2237A= (p.Lys746=)
c.2369A= (p.Lys790=)
c.2234A= (p.Lys745=)
n.2530A=
2g.71561865A>CCA347209583DYSFc.2276A>C (p.Lys759Thr)
c.2330A>C (p.Lys777Thr)
c.2279A>C (p.Lys760Thr)
c.2327A>C (p.Lys776Thr)
c.2372A>C (p.Lys791Thr)
c.2237A>C (p.Lys746Thr)
c.2369A>C (p.Lys790Thr)
c.2234A>C (p.Lys745Thr)
n.2530A>C
2g.71561865A>GCA1706123DYSFc.2276A>G (p.Lys759Arg)
c.2330A>G (p.Lys777Arg)
c.2279A>G (p.Lys760Arg)
c.2327A>G (p.Lys776Arg)
c.2372A>G (p.Lys791Arg)
c.2237A>G (p.Lys746Arg)
c.2369A>G (p.Lys790Arg)
c.2234A>G (p.Lys745Arg)
n.2530A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561865A>TCA347209578DYSFc.2276A>T (p.Lys759Met)
c.2330A>T (p.Lys777Met)
c.2279A>T (p.Lys760Met)
c.2327A>T (p.Lys776Met)
c.2372A>T (p.Lys791Met)
c.2237A>T (p.Lys746Met)
c.2369A>T (p.Lys790Met)
c.2234A>T (p.Lys745Met)
n.2530A>T
 COSMIC COSMIC
2g.71561870_71561894delCA1706122DYSFc.2281_2305del (p.Gly761TrpfsTer?)
c.2335_2359del (p.Gly779TrpfsTer?)
c.2284_2308del (p.Gly762TrpfsTer?)
c.2332_2356del (p.Gly778TrpfsTer?)
c.2377_2401del (p.Gly793TrpfsTer?)
c.2242_2266del (p.Gly748TrpfsTer?)
c.2374_2398del (p.Gly792TrpfsTer?)
c.2239_2263del (p.Gly747TrpfsTer?)
n.2535_2559del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561866G>ACA426701597DYSFc.2277G>A (p.Lys759=)
c.2331G>A (p.Lys777=)
c.2280G>A (p.Lys760=)
c.2328G>A (p.Lys776=)
c.2373G>A (p.Lys791=)
c.2238G>A (p.Lys746=)
c.2370G>A (p.Lys790=)
c.2235G>A (p.Lys745=)
n.2531G>A
 ClinVar dbSNP
2g.71561866G>CCA347209592DYSFc.2277G>C (p.Lys759Asn)
c.2331G>C (p.Lys777Asn)
c.2280G>C (p.Lys760Asn)
c.2328G>C (p.Lys776Asn)
c.2373G>C (p.Lys791Asn)
c.2238G>C (p.Lys746Asn)
c.2370G>C (p.Lys790Asn)
c.2235G>C (p.Lys745Asn)
n.2531G>C
2g.71561866G>TCA347209595DYSFc.2277G>T (p.Lys759Asn)
c.2331G>T (p.Lys777Asn)
c.2280G>T (p.Lys760Asn)
c.2328G>T (p.Lys776Asn)
c.2373G>T (p.Lys791Asn)
c.2238G>T (p.Lys746Asn)
c.2370G>T (p.Lys790Asn)
c.2235G>T (p.Lys745Asn)
n.2531G>T
2g.71561867C>ACA347209601DYSFc.2278C>A (p.Leu760Ile)
c.2332C>A (p.Leu778Ile)
c.2281C>A (p.Leu761Ile)
c.2329C>A (p.Leu777Ile)
c.2374C>A (p.Leu792Ile)
c.2239C>A (p.Leu747Ile)
c.2371C>A (p.Leu791Ile)
c.2236C>A (p.Leu746Ile)
n.2532C>A
2g.71561867C>GCA347209602DYSFc.2278C>G (p.Leu760Val)
c.2332C>G (p.Leu778Val)
c.2281C>G (p.Leu761Val)
c.2329C>G (p.Leu777Val)
c.2374C>G (p.Leu792Val)
c.2239C>G (p.Leu747Val)
c.2371C>G (p.Leu791Val)
c.2236C>G (p.Leu746Val)
n.2532C>G
2g.71561867C>TCA347209603DYSFc.2278C>T (p.Leu760Phe)
c.2332C>T (p.Leu778Phe)
c.2281C>T (p.Leu761Phe)
c.2329C>T (p.Leu777Phe)
c.2374C>T (p.Leu792Phe)
c.2239C>T (p.Leu747Phe)
c.2371C>T (p.Leu791Phe)
c.2236C>T (p.Leu746Phe)
n.2532C>T
2g.71561868T>ACA347209606DYSFc.2279T>A (p.Leu760His)
c.2333T>A (p.Leu778His)
c.2282T>A (p.Leu761His)
c.2330T>A (p.Leu777His)
c.2375T>A (p.Leu792His)
c.2240T>A (p.Leu747His)
c.2372T>A (p.Leu791His)
c.2237T>A (p.Leu746His)
n.2533T>A
2g.71561868T>CCA347209617DYSFc.2279T>C (p.Leu760Pro)
c.2333T>C (p.Leu778Pro)
c.2282T>C (p.Leu761Pro)
c.2330T>C (p.Leu777Pro)
c.2375T>C (p.Leu792Pro)
c.2240T>C (p.Leu747Pro)
c.2372T>C (p.Leu791Pro)
c.2237T>C (p.Leu746Pro)
n.2533T>C
2g.71561868T>GCA347209618DYSFc.2279T>G (p.Leu760Arg)
c.2333T>G (p.Leu778Arg)
c.2282T>G (p.Leu761Arg)
c.2330T>G (p.Leu777Arg)
c.2375T>G (p.Leu792Arg)
c.2240T>G (p.Leu747Arg)
c.2372T>G (p.Leu791Arg)
c.2237T>G (p.Leu746Arg)
n.2533T>G
2g.71561869C>ACA426701599DYSFc.2280C>A (p.Leu760=)
c.2334C>A (p.Leu778=)
c.2283C>A (p.Leu761=)
c.2331C>A (p.Leu777=)
c.2376C>A (p.Leu792=)
c.2241C>A (p.Leu747=)
c.2373C>A (p.Leu791=)
c.2238C>A (p.Leu746=)
n.2534C>A
2g.71561869C=CA1260098805DYSFc.2280C= (p.Leu760=)
c.2334C= (p.Leu778=)
c.2283C= (p.Leu761=)
c.2331C= (p.Leu777=)
c.2376C= (p.Leu792=)
c.2241C= (p.Leu747=)
c.2373C= (p.Leu791=)
c.2238C= (p.Leu746=)
n.2534C=
2g.71561869C>GCA426701598DYSFc.2280C>G (p.Leu760=)
c.2334C>G (p.Leu778=)
c.2283C>G (p.Leu761=)
c.2331C>G (p.Leu777=)
c.2376C>G (p.Leu792=)
c.2241C>G (p.Leu747=)
c.2373C>G (p.Leu791=)
c.2238C>G (p.Leu746=)
n.2534C>G
 ClinVar
2g.71561869C>TCA179985DYSFc.2280C>T (p.Leu760=)
c.2334C>T (p.Leu778=)
c.2283C>T (p.Leu761=)
c.2331C>T (p.Leu777=)
c.2376C>T (p.Leu792=)
c.2241C>T (p.Leu747=)
c.2373C>T (p.Leu791=)
c.2238C>T (p.Leu746=)
n.2534C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561870G>ACA242326DYSFc.2281G>A (p.Gly761Ser)
c.2335G>A (p.Gly779Ser)
c.2284G>A (p.Gly762Ser)
c.2332G>A (p.Gly778Ser)
c.2377G>A (p.Gly793Ser)
c.2242G>A (p.Gly748Ser)
c.2374G>A (p.Gly792Ser)
c.2239G>A (p.Gly747Ser)
n.2535G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561870G>CCA347209624DYSFc.2281G>C (p.Gly761Arg)
c.2335G>C (p.Gly779Arg)
c.2284G>C (p.Gly762Arg)
c.2332G>C (p.Gly778Arg)
c.2377G>C (p.Gly793Arg)
c.2242G>C (p.Gly748Arg)
c.2374G>C (p.Gly792Arg)
c.2239G>C (p.Gly747Arg)
n.2535G>C
2g.71561870G=CA1260098818DYSFc.2281G= (p.Gly761=)
c.2335G= (p.Gly779=)
c.2284G= (p.Gly762=)
c.2332G= (p.Gly778=)
c.2377G= (p.Gly793=)
c.2242G= (p.Gly748=)
c.2374G= (p.Gly792=)
c.2239G= (p.Gly747=)
n.2535G=
2g.71561870G>TCA347209629DYSFc.2281G>T (p.Gly761Cys)
c.2335G>T (p.Gly779Cys)
c.2284G>T (p.Gly762Cys)
c.2332G>T (p.Gly778Cys)
c.2377G>T (p.Gly793Cys)
c.2242G>T (p.Gly748Cys)
c.2374G>T (p.Gly792Cys)
c.2239G>T (p.Gly747Cys)
n.2535G>T
 gnomAD v4
2g.71561871G>ACA347209635DYSFc.2282G>A (p.Gly761Asp)
c.2336G>A (p.Gly779Asp)
c.2285G>A (p.Gly762Asp)
c.2333G>A (p.Gly778Asp)
c.2378G>A (p.Gly793Asp)
c.2243G>A (p.Gly748Asp)
c.2375G>A (p.Gly792Asp)
c.2240G>A (p.Gly747Asp)
n.2536G>A
 dbSNP
2g.71561871G>CCA347209644DYSFc.2282G>C (p.Gly761Ala)
c.2336G>C (p.Gly779Ala)
c.2285G>C (p.Gly762Ala)
c.2333G>C (p.Gly778Ala)
c.2378G>C (p.Gly793Ala)
c.2243G>C (p.Gly748Ala)
c.2375G>C (p.Gly792Ala)
c.2240G>C (p.Gly747Ala)
n.2536G>C
2g.71561871G=CA1260098827DYSFc.2282G= (p.Gly761=)
c.2336G= (p.Gly779=)
c.2285G= (p.Gly762=)
c.2333G= (p.Gly778=)
c.2378G= (p.Gly793=)
c.2243G= (p.Gly748=)
c.2375G= (p.Gly792=)
c.2240G= (p.Gly747=)
n.2536G=
2g.71561871G>TCA347209639DYSFc.2282G>T (p.Gly761Val)
c.2336G>T (p.Gly779Val)
c.2285G>T (p.Gly762Val)
c.2333G>T (p.Gly778Val)
c.2378G>T (p.Gly793Val)
c.2243G>T (p.Gly748Val)
c.2375G>T (p.Gly792Val)
c.2240G>T (p.Gly747Val)
n.2536G>T
 gnomAD v4
2g.71561872C>ACA426701600DYSFc.2283C>A (p.Gly761=)
c.2337C>A (p.Gly779=)
c.2286C>A (p.Gly762=)
c.2334C>A (p.Gly778=)
c.2379C>A (p.Gly793=)
c.2244C>A (p.Gly748=)
c.2376C>A (p.Gly792=)
c.2241C>A (p.Gly747=)
n.2537C>A
2g.71561872C=CA1260098829DYSFc.2283C= (p.Gly761=)
c.2337C= (p.Gly779=)
c.2286C= (p.Gly762=)
c.2334C= (p.Gly778=)
c.2379C= (p.Gly793=)
c.2244C= (p.Gly748=)
c.2376C= (p.Gly792=)
c.2241C= (p.Gly747=)
n.2537C=
2g.71561872C>GCA426701602DYSFc.2283C>G (p.Gly761=)
c.2337C>G (p.Gly779=)
c.2286C>G (p.Gly762=)
c.2334C>G (p.Gly778=)
c.2379C>G (p.Gly793=)
c.2244C>G (p.Gly748=)
c.2376C>G (p.Gly792=)
c.2241C>G (p.Gly747=)
n.2537C>G
2g.71561872C>TCA426701601DYSFc.2283C>T (p.Gly761=)
c.2337C>T (p.Gly779=)
c.2286C>T (p.Gly762=)
c.2334C>T (p.Gly778=)
c.2379C>T (p.Gly793=)
c.2244C>T (p.Gly748=)
c.2376C>T (p.Gly792=)
c.2241C>T (p.Gly747=)
n.2537C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561873C>ACA347209649DYSFc.2284C>A (p.His762Asn)
c.2338C>A (p.His780Asn)
c.2287C>A (p.His763Asn)
c.2335C>A (p.His779Asn)
c.2380C>A (p.His794Asn)
c.2245C>A (p.His749Asn)
c.2377C>A (p.His793Asn)
c.2242C>A (p.His748Asn)
n.2538C>A
2g.71561873C>GCA347209655DYSFc.2284C>G (p.His762Asp)
c.2338C>G (p.His780Asp)
c.2287C>G (p.His763Asp)
c.2335C>G (p.His779Asp)
c.2380C>G (p.His794Asp)
c.2245C>G (p.His749Asp)
c.2377C>G (p.His793Asp)
c.2242C>G (p.His748Asp)
n.2538C>G
2g.71561873C>TCA347209661DYSFc.2284C>T (p.His762Tyr)
c.2338C>T (p.His780Tyr)
c.2287C>T (p.His763Tyr)
c.2335C>T (p.His779Tyr)
c.2380C>T (p.His794Tyr)
c.2245C>T (p.His749Tyr)
c.2377C>T (p.His793Tyr)
c.2242C>T (p.His748Tyr)
n.2538C>T
 COSMIC COSMIC
2g.71561874A>CCA347209667DYSFc.2285A>C (p.His762Pro)
c.2339A>C (p.His780Pro)
c.2288A>C (p.His763Pro)
c.2336A>C (p.His779Pro)
c.2381A>C (p.His794Pro)
c.2246A>C (p.His749Pro)
c.2378A>C (p.His793Pro)
c.2243A>C (p.His748Pro)
n.2539A>C
2g.71561874A>GCA347209672DYSFc.2285A>G (p.His762Arg)
c.2339A>G (p.His780Arg)
c.2288A>G (p.His763Arg)
c.2336A>G (p.His779Arg)
c.2381A>G (p.His794Arg)
c.2246A>G (p.His749Arg)
c.2378A>G (p.His793Arg)
c.2243A>G (p.His748Arg)
n.2539A>G
 ClinVar dbSNP gnomAD v4
2g.71561874A>TCA347209673DYSFc.2285A>T (p.His762Leu)
c.2339A>T (p.His780Leu)
c.2288A>T (p.His763Leu)
c.2336A>T (p.His779Leu)
c.2381A>T (p.His794Leu)
c.2246A>T (p.His749Leu)
c.2378A>T (p.His793Leu)
c.2243A>T (p.His748Leu)
n.2539A>T
 gnomAD v4
2g.71561875C>ACA347209681DYSFc.2286C>A (p.His762Gln)
c.2340C>A (p.His780Gln)
c.2289C>A (p.His763Gln)
c.2337C>A (p.His779Gln)
c.2382C>A (p.His794Gln)
c.2247C>A (p.His749Gln)
c.2379C>A (p.His793Gln)
c.2244C>A (p.His748Gln)
n.2540C>A
2g.71561875C>GCA347209682DYSFc.2286C>G (p.His762Gln)
c.2340C>G (p.His780Gln)
c.2289C>G (p.His763Gln)
c.2337C>G (p.His779Gln)
c.2382C>G (p.His794Gln)
c.2247C>G (p.His749Gln)
c.2379C>G (p.His793Gln)
c.2244C>G (p.His748Gln)
n.2540C>G
2g.71561875C>TCA426701603DYSFc.2286C>T (p.His762=)
c.2340C>T (p.His780=)
c.2289C>T (p.His763=)
c.2337C>T (p.His779=)
c.2382C>T (p.His794=)
c.2247C>T (p.His749=)
c.2379C>T (p.His793=)
c.2244C>T (p.His748=)
n.2540C>T
2g.71561876A=CA1260098833DYSFc.2287A= (p.Ser763=)
c.2341A= (p.Ser781=)
c.2290A= (p.Ser764=)
c.2338A= (p.Ser780=)
c.2383A= (p.Ser795=)
c.2248A= (p.Ser750=)
c.2380A= (p.Ser794=)
c.2245A= (p.Ser749=)
n.2541A=
2g.71561876A>CCA347209686DYSFc.2287A>C (p.Ser763Arg)
c.2341A>C (p.Ser781Arg)
c.2290A>C (p.Ser764Arg)
c.2338A>C (p.Ser780Arg)
c.2383A>C (p.Ser795Arg)
c.2248A>C (p.Ser750Arg)
c.2380A>C (p.Ser794Arg)
c.2245A>C (p.Ser749Arg)
n.2541A>C
2g.71561876A>GCA347209687DYSFc.2287A>G (p.Ser763Gly)
c.2341A>G (p.Ser781Gly)
c.2290A>G (p.Ser764Gly)
c.2338A>G (p.Ser780Gly)
c.2383A>G (p.Ser795Gly)
c.2248A>G (p.Ser750Gly)
c.2380A>G (p.Ser794Gly)
c.2245A>G (p.Ser749Gly)
n.2541A>G
 ClinVar dbSNP gnomAD v4
2g.71561876A>TCA347209688DYSFc.2287A>T (p.Ser763Cys)
c.2341A>T (p.Ser781Cys)
c.2290A>T (p.Ser764Cys)
c.2338A>T (p.Ser780Cys)
c.2383A>T (p.Ser795Cys)
c.2248A>T (p.Ser750Cys)
c.2380A>T (p.Ser794Cys)
c.2245A>T (p.Ser749Cys)
n.2541A>T
2g.71561878_71561881delCA2580067852DYSFc.2289_2292del (p.Glu764SerfsTer?)
c.2343_2346del (p.Glu782SerfsTer?)
c.2292_2295del (p.Glu765SerfsTer?)
c.2340_2343del (p.Glu781SerfsTer?)
c.2385_2388del (p.Glu796SerfsTer?)
c.2250_2253del (p.Glu751SerfsTer?)
c.2382_2385del (p.Glu795SerfsTer?)
c.2247_2250del (p.Glu750SerfsTer?)
n.2543_2546del
 ClinVar
2g.71561877G>ACA347209694DYSFc.2288G>A (p.Ser763Asn)
c.2342G>A (p.Ser781Asn)
c.2291G>A (p.Ser764Asn)
c.2339G>A (p.Ser780Asn)
c.2384G>A (p.Ser795Asn)
c.2249G>A (p.Ser750Asn)
c.2381G>A (p.Ser794Asn)
c.2246G>A (p.Ser749Asn)
n.2542G>A
 gnomAD v4
2g.71561877G>CCA347209697DYSFc.2288G>C (p.Ser763Thr)
c.2342G>C (p.Ser781Thr)
c.2291G>C (p.Ser764Thr)
c.2339G>C (p.Ser780Thr)
c.2384G>C (p.Ser795Thr)
c.2249G>C (p.Ser750Thr)
c.2381G>C (p.Ser794Thr)
c.2246G>C (p.Ser749Thr)
n.2542G>C
2g.71561877G>TCA347209691DYSFc.2288G>T (p.Ser763Ile)
c.2342G>T (p.Ser781Ile)
c.2291G>T (p.Ser764Ile)
c.2339G>T (p.Ser780Ile)
c.2384G>T (p.Ser795Ile)
c.2249G>T (p.Ser750Ile)
c.2381G>T (p.Ser794Ile)
c.2246G>T (p.Ser749Ile)
n.2542G>T
2g.71561878T>ACA347209701DYSFc.2289T>A (p.Ser763Arg)
c.2343T>A (p.Ser781Arg)
c.2292T>A (p.Ser764Arg)
c.2340T>A (p.Ser780Arg)
c.2385T>A (p.Ser795Arg)
c.2250T>A (p.Ser750Arg)
c.2382T>A (p.Ser794Arg)
c.2247T>A (p.Ser749Arg)
n.2543T>A
2g.71561878T>CCA426701604DYSFc.2289T>C (p.Ser763=)
c.2343T>C (p.Ser781=)
c.2292T>C (p.Ser764=)
c.2340T>C (p.Ser780=)
c.2385T>C (p.Ser795=)
c.2250T>C (p.Ser750=)
c.2382T>C (p.Ser794=)
c.2247T>C (p.Ser749=)
n.2543T>C
2g.71561878T>GCA347209700DYSFc.2289T>G (p.Ser763Arg)
c.2343T>G (p.Ser781Arg)
c.2292T>G (p.Ser764Arg)
c.2340T>G (p.Ser780Arg)
c.2385T>G (p.Ser795Arg)
c.2250T>G (p.Ser750Arg)
c.2382T>G (p.Ser794Arg)
c.2247T>G (p.Ser749Arg)
n.2543T>G
2g.71561879G>ACA347209703DYSFc.2290G>A (p.Glu764Lys)
c.2344G>A (p.Glu782Lys)
c.2293G>A (p.Glu765Lys)
c.2341G>A (p.Glu781Lys)
c.2386G>A (p.Glu796Lys)
c.2251G>A (p.Glu751Lys)
c.2383G>A (p.Glu795Lys)
c.2248G>A (p.Glu750Lys)
n.2544G>A
 dbSNP gnomAD v4
2g.71561879G>CCA347209706DYSFc.2290G>C (p.Glu764Gln)
c.2344G>C (p.Glu782Gln)
c.2293G>C (p.Glu765Gln)
c.2341G>C (p.Glu781Gln)
c.2386G>C (p.Glu796Gln)
c.2251G>C (p.Glu751Gln)
c.2383G>C (p.Glu795Gln)
c.2248G>C (p.Glu750Gln)
n.2544G>C
2g.71561879G=CA1260098841DYSFc.2290G= (p.Glu764=)
c.2344G= (p.Glu782=)
c.2293G= (p.Glu765=)
c.2341G= (p.Glu781=)
c.2386G= (p.Glu796=)
c.2251G= (p.Glu751=)
c.2383G= (p.Glu795=)
c.2248G= (p.Glu750=)
n.2544G=
2g.71561879G>TCA10606093DYSFc.2290G>T (p.Glu764Ter)
c.2344G>T (p.Glu782Ter)
c.2293G>T (p.Glu765Ter)
c.2341G>T (p.Glu781Ter)
c.2386G>T (p.Glu796Ter)
c.2251G>T (p.Glu751Ter)
c.2383G>T (p.Glu795Ter)
c.2248G>T (p.Glu750Ter)
n.2544G>T
 ClinVar dbSNP
2g.71561880A>CCA347209710DYSFc.2291A>C (p.Glu764Ala)
c.2345A>C (p.Glu782Ala)
c.2294A>C (p.Glu765Ala)
c.2342A>C (p.Glu781Ala)
c.2387A>C (p.Glu796Ala)
c.2252A>C (p.Glu751Ala)
c.2384A>C (p.Glu795Ala)
c.2249A>C (p.Glu750Ala)
n.2545A>C
2g.71561880A>GCA347209715DYSFc.2291A>G (p.Glu764Gly)
c.2345A>G (p.Glu782Gly)
c.2294A>G (p.Glu765Gly)
c.2342A>G (p.Glu781Gly)
c.2387A>G (p.Glu796Gly)
c.2252A>G (p.Glu751Gly)
c.2384A>G (p.Glu795Gly)
c.2249A>G (p.Glu750Gly)
n.2545A>G
 ClinVar gnomAD v4
2g.71561880A>TCA347209718DYSFc.2291A>T (p.Glu764Val)
c.2345A>T (p.Glu782Val)
c.2294A>T (p.Glu765Val)
c.2342A>T (p.Glu781Val)
c.2387A>T (p.Glu796Val)
c.2252A>T (p.Glu751Val)
c.2384A>T (p.Glu795Val)
c.2249A>T (p.Glu750Val)
n.2545A>T
2g.71561881G>ACA426701605DYSFc.2292G>A (p.Glu764=)
c.2346G>A (p.Glu782=)
c.2295G>A (p.Glu765=)
c.2343G>A (p.Glu781=)
c.2388G>A (p.Glu796=)
c.2253G>A (p.Glu751=)
c.2385G>A (p.Glu795=)
c.2250G>A (p.Glu750=)
n.2546G>A
 gnomAD v4
2g.71561881G>CCA347209724DYSFc.2292G>C (p.Glu764Asp)
c.2346G>C (p.Glu782Asp)
c.2295G>C (p.Glu765Asp)
c.2343G>C (p.Glu781Asp)
c.2388G>C (p.Glu796Asp)
c.2253G>C (p.Glu751Asp)
c.2385G>C (p.Glu795Asp)
c.2250G>C (p.Glu750Asp)
n.2546G>C
2g.71561881G>TCA347209728DYSFc.2292G>T (p.Glu764Asp)
c.2346G>T (p.Glu782Asp)
c.2295G>T (p.Glu765Asp)
c.2343G>T (p.Glu781Asp)
c.2388G>T (p.Glu796Asp)
c.2253G>T (p.Glu751Asp)
c.2385G>T (p.Glu795Asp)
c.2250G>T (p.Glu750Asp)
n.2546G>T
2g.71561882C>ACA347209734DYSFc.2293C>A (p.Leu765Ile)
c.2347C>A (p.Leu783Ile)
c.2296C>A (p.Leu766Ile)
c.2344C>A (p.Leu782Ile)
c.2389C>A (p.Leu797Ile)
c.2254C>A (p.Leu752Ile)
c.2386C>A (p.Leu796Ile)
c.2251C>A (p.Leu751Ile)
n.2547C>A
2g.71561882C=CA1260098844DYSFc.2293C= (p.Leu765=)
c.2347C= (p.Leu783=)
c.2296C= (p.Leu766=)
c.2344C= (p.Leu782=)
c.2389C= (p.Leu797=)
c.2254C= (p.Leu752=)
c.2386C= (p.Leu796=)
c.2251C= (p.Leu751=)
n.2547C=
2g.71561882C>GCA347209736DYSFc.2293C>G (p.Leu765Val)
c.2347C>G (p.Leu783Val)
c.2296C>G (p.Leu766Val)
c.2344C>G (p.Leu782Val)
c.2389C>G (p.Leu797Val)
c.2254C>G (p.Leu752Val)
c.2386C>G (p.Leu796Val)
c.2251C>G (p.Leu751Val)
n.2547C>G
2g.71561882C>TCA347209742DYSFc.2293C>T (p.Leu765Phe)
c.2347C>T (p.Leu783Phe)
c.2296C>T (p.Leu766Phe)
c.2344C>T (p.Leu782Phe)
c.2389C>T (p.Leu797Phe)
c.2254C>T (p.Leu752Phe)
c.2386C>T (p.Leu796Phe)
c.2251C>T (p.Leu751Phe)
n.2547C>T
 dbSNP gnomAD v2 COSMIC COSMIC
2g.71561883T>ACA347209760DYSFc.2294T>A (p.Leu765His)
c.2348T>A (p.Leu783His)
c.2297T>A (p.Leu766His)
c.2345T>A (p.Leu782His)
c.2390T>A (p.Leu797His)
c.2255T>A (p.Leu752His)
c.2387T>A (p.Leu796His)
c.2252T>A (p.Leu751His)
n.2548T>A
2g.71561883T>CCA347209748DYSFc.2294T>C (p.Leu765Pro)
c.2348T>C (p.Leu783Pro)
c.2297T>C (p.Leu766Pro)
c.2345T>C (p.Leu782Pro)
c.2390T>C (p.Leu797Pro)
c.2255T>C (p.Leu752Pro)
c.2387T>C (p.Leu796Pro)
c.2252T>C (p.Leu751Pro)
n.2548T>C
2g.71561883T>GCA347209751DYSFc.2294T>G (p.Leu765Arg)
c.2348T>G (p.Leu783Arg)
c.2297T>G (p.Leu766Arg)
c.2345T>G (p.Leu782Arg)
c.2390T>G (p.Leu797Arg)
c.2255T>G (p.Leu752Arg)
c.2387T>G (p.Leu796Arg)
c.2252T>G (p.Leu751Arg)
n.2548T>G
2g.71561884C>ACA426701606DYSFc.2295C>A (p.Leu765=)
c.2349C>A (p.Leu783=)
c.2298C>A (p.Leu766=)
c.2346C>A (p.Leu782=)
c.2391C>A (p.Leu797=)
c.2256C>A (p.Leu752=)
c.2388C>A (p.Leu796=)
c.2253C>A (p.Leu751=)
n.2549C>A
 dbSNP gnomAD v2 gnomAD v4
2g.71561884C=CA1260098846DYSFc.2295C= (p.Leu765=)
c.2349C= (p.Leu783=)
c.2298C= (p.Leu766=)
c.2346C= (p.Leu782=)
c.2391C= (p.Leu797=)
c.2256C= (p.Leu752=)
c.2388C= (p.Leu796=)
c.2253C= (p.Leu751=)
n.2549C=
2g.71561884C>GCA426701607DYSFc.2295C>G (p.Leu765=)
c.2349C>G (p.Leu783=)
c.2298C>G (p.Leu766=)
c.2346C>G (p.Leu782=)
c.2391C>G (p.Leu797=)
c.2256C>G (p.Leu752=)
c.2388C>G (p.Leu796=)
c.2253C>G (p.Leu751=)
n.2549C>G
 gnomAD v4
2g.71561884C>TCA426701608DYSFc.2295C>T (p.Leu765=)
c.2349C>T (p.Leu783=)
c.2298C>T (p.Leu766=)
c.2346C>T (p.Leu782=)
c.2391C>T (p.Leu797=)
c.2256C>T (p.Leu752=)
c.2388C>T (p.Leu796=)
c.2253C>T (p.Leu751=)
n.2549C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561886delCA2580067853DYSFc.2297del (p.Pro766LeufsTer?)
c.2351del (p.Pro784LeufsTer?)
c.2300del (p.Pro767LeufsTer?)
c.2348del (p.Pro783LeufsTer?)
c.2393del (p.Pro798LeufsTer?)
c.2258del (p.Pro753LeufsTer?)
c.2390del (p.Pro797LeufsTer?)
c.2255del (p.Pro752LeufsTer?)
n.2551del
 ClinVar
2g.71561885C>ACA347209764DYSFc.2296C>A (p.Pro766Thr)
c.2350C>A (p.Pro784Thr)
c.2299C>A (p.Pro767Thr)
c.2347C>A (p.Pro783Thr)
c.2392C>A (p.Pro798Thr)
c.2257C>A (p.Pro753Thr)
c.2389C>A (p.Pro797Thr)
c.2254C>A (p.Pro752Thr)
n.2550C>A
2g.71561885C=CA1260098849DYSFc.2296C= (p.Pro766=)
c.2350C= (p.Pro784=)
c.2299C= (p.Pro767=)
c.2347C= (p.Pro783=)
c.2392C= (p.Pro798=)
c.2257C= (p.Pro753=)
c.2389C= (p.Pro797=)
c.2254C= (p.Pro752=)
n.2550C=
2g.71561885C>GCA347209768DYSFc.2296C>G (p.Pro766Ala)
c.2350C>G (p.Pro784Ala)
c.2299C>G (p.Pro767Ala)
c.2347C>G (p.Pro783Ala)
c.2392C>G (p.Pro798Ala)
c.2257C>G (p.Pro753Ala)
c.2389C>G (p.Pro797Ala)
c.2254C>G (p.Pro752Ala)
n.2550C>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561885C>TCA347209769DYSFc.2296C>T (p.Pro766Ser)
c.2350C>T (p.Pro784Ser)
c.2299C>T (p.Pro767Ser)
c.2347C>T (p.Pro783Ser)
c.2392C>T (p.Pro798Ser)
c.2257C>T (p.Pro753Ser)
c.2389C>T (p.Pro797Ser)
c.2254C>T (p.Pro752Ser)
n.2550C>T
 ClinVar dbSNP gnomAD v4
2g.71561885_71561886insTGCAGCTCTGGAGCA533655685DYSFc.2296_2297insTGCAGCTCTGGAG (p.Pro766LeufsTer?)
c.2350_2351insTGCAGCTCTGGAG (p.Pro784LeufsTer?)
c.2299_2300insTGCAGCTCTGGAG (p.Pro767LeufsTer?)
c.2347_2348insTGCAGCTCTGGAG (p.Pro783LeufsTer?)
c.2392_2393insTGCAGCTCTGGAG (p.Pro798LeufsTer?)
c.2257_2258insTGCAGCTCTGGAG (p.Pro753LeufsTer?)
c.2389_2390insTGCAGCTCTGGAG (p.Pro797LeufsTer?)
c.2254_2255insTGCAGCTCTGGAG (p.Pro752LeufsTer?)
n.2550_2551insTGCAGCTCTGGAG
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561886C>ACA347209772DYSFc.2297C>A (p.Pro766His)
c.2351C>A (p.Pro784His)
c.2300C>A (p.Pro767His)
c.2348C>A (p.Pro783His)
c.2393C>A (p.Pro798His)
c.2258C>A (p.Pro753His)
c.2390C>A (p.Pro797His)
c.2255C>A (p.Pro752His)
n.2551C>A
2g.71561886C=CA1260098851DYSFc.2297C= (p.Pro766=)
c.2351C= (p.Pro784=)
c.2300C= (p.Pro767=)
c.2348C= (p.Pro783=)
c.2393C= (p.Pro798=)
c.2258C= (p.Pro753=)
c.2390C= (p.Pro797=)
c.2255C= (p.Pro752=)
n.2551C=
2g.71561886C>GCA347209774DYSFc.2297C>G (p.Pro766Arg)
c.2351C>G (p.Pro784Arg)
c.2300C>G (p.Pro767Arg)
c.2348C>G (p.Pro783Arg)
c.2393C>G (p.Pro798Arg)
c.2258C>G (p.Pro753Arg)
c.2390C>G (p.Pro797Arg)
c.2255C>G (p.Pro752Arg)
n.2551C>G
2g.71561886C>TCA1706124DYSFc.2297C>T (p.Pro766Leu)
c.2351C>T (p.Pro784Leu)
c.2300C>T (p.Pro767Leu)
c.2348C>T (p.Pro783Leu)
c.2393C>T (p.Pro798Leu)
c.2258C>T (p.Pro753Leu)
c.2390C>T (p.Pro797Leu)
c.2255C>T (p.Pro752Leu)
n.2551C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561887T>ACA426701609DYSFc.2298T>A (p.Pro766=)
c.2352T>A (p.Pro784=)
c.2301T>A (p.Pro767=)
c.2349T>A (p.Pro783=)
c.2394T>A (p.Pro798=)
c.2259T>A (p.Pro753=)
c.2391T>A (p.Pro797=)
c.2256T>A (p.Pro752=)
n.2552T>A
2g.71561887T>CCA426701611DYSFc.2298T>C (p.Pro766=)
c.2352T>C (p.Pro784=)
c.2301T>C (p.Pro767=)
c.2349T>C (p.Pro783=)
c.2394T>C (p.Pro798=)
c.2259T>C (p.Pro753=)
c.2391T>C (p.Pro797=)
c.2256T>C (p.Pro752=)
n.2552T>C
 dbSNP
2g.71561887T>GCA426701610DYSFc.2298T>G (p.Pro766=)
c.2352T>G (p.Pro784=)
c.2301T>G (p.Pro767=)
c.2349T>G (p.Pro783=)
c.2394T>G (p.Pro798=)
c.2259T>G (p.Pro753=)
c.2391T>G (p.Pro797=)
c.2256T>G (p.Pro752=)
n.2552T>G
2g.71561887T=CA1260098852DYSFc.2298T= (p.Pro766=)
c.2352T= (p.Pro784=)
c.2301T= (p.Pro767=)
c.2349T= (p.Pro783=)
c.2394T= (p.Pro798=)
c.2259T= (p.Pro753=)
c.2391T= (p.Pro797=)
c.2256T= (p.Pro752=)
n.2552T=
2g.71561888G>ACA347209784DYSFc.2299G>A (p.Ala767Thr)
c.2353G>A (p.Ala785Thr)
c.2302G>A (p.Ala768Thr)
c.2350G>A (p.Ala784Thr)
c.2395G>A (p.Ala799Thr)
c.2260G>A (p.Ala754Thr)
c.2392G>A (p.Ala798Thr)
c.2257G>A (p.Ala753Thr)
n.2553G>A
 gnomAD v4
2g.71561888G>CCA347209787DYSFc.2299G>C (p.Ala767Pro)
c.2353G>C (p.Ala785Pro)
c.2302G>C (p.Ala768Pro)
c.2350G>C (p.Ala784Pro)
c.2395G>C (p.Ala799Pro)
c.2260G>C (p.Ala754Pro)
c.2392G>C (p.Ala798Pro)
c.2257G>C (p.Ala753Pro)
n.2553G>C
2g.71561888G>TCA347209790DYSFc.2299G>T (p.Ala767Ser)
c.2353G>T (p.Ala785Ser)
c.2302G>T (p.Ala768Ser)
c.2350G>T (p.Ala784Ser)
c.2395G>T (p.Ala799Ser)
c.2260G>T (p.Ala754Ser)
c.2392G>T (p.Ala798Ser)
c.2257G>T (p.Ala753Ser)
n.2553G>T
2g.71561889C>ACA347209796DYSFc.2300C>A (p.Ala767Glu)
c.2354C>A (p.Ala785Glu)
c.2303C>A (p.Ala768Glu)
c.2351C>A (p.Ala784Glu)
c.2396C>A (p.Ala799Glu)
c.2261C>A (p.Ala754Glu)
c.2393C>A (p.Ala798Glu)
c.2258C>A (p.Ala753Glu)
n.2554C>A
2g.71561889C>GCA347209797DYSFc.2300C>G (p.Ala767Gly)
c.2354C>G (p.Ala785Gly)
c.2303C>G (p.Ala768Gly)
c.2351C>G (p.Ala784Gly)
c.2396C>G (p.Ala799Gly)
c.2261C>G (p.Ala754Gly)
c.2393C>G (p.Ala798Gly)
c.2258C>G (p.Ala753Gly)
n.2554C>G
2g.71561889C>TCA347209800DYSFc.2300C>T (p.Ala767Val)
c.2354C>T (p.Ala785Val)
c.2303C>T (p.Ala768Val)
c.2351C>T (p.Ala784Val)
c.2396C>T (p.Ala799Val)
c.2261C>T (p.Ala754Val)
c.2393C>T (p.Ala798Val)
c.2258C>T (p.Ala753Val)
n.2554C>T
2g.71561890A>CCA426701612DYSFc.2301A>C (p.Ala767=)
c.2355A>C (p.Ala785=)
c.2304A>C (p.Ala768=)
c.2352A>C (p.Ala784=)
c.2397A>C (p.Ala799=)
c.2262A>C (p.Ala754=)
c.2394A>C (p.Ala798=)
c.2259A>C (p.Ala753=)
n.2555A>C
2g.71561890A>GCA426701614DYSFc.2301A>G (p.Ala767=)
c.2355A>G (p.Ala785=)
c.2304A>G (p.Ala768=)
c.2352A>G (p.Ala784=)
c.2397A>G (p.Ala799=)
c.2262A>G (p.Ala754=)
c.2394A>G (p.Ala798=)
c.2259A>G (p.Ala753=)
n.2555A>G
2g.71561890A>TCA426701613DYSFc.2301A>T (p.Ala767=)
c.2355A>T (p.Ala785=)
c.2304A>T (p.Ala768=)
c.2352A>T (p.Ala784=)
c.2397A>T (p.Ala799=)
c.2262A>T (p.Ala754=)
c.2394A>T (p.Ala798=)
c.2259A>T (p.Ala753=)
n.2555A>T
2g.71561891G>ACA347209807DYSFc.2302G>A (p.Ala768Thr)
c.2356G>A (p.Ala786Thr)
c.2305G>A (p.Ala769Thr)
c.2353G>A (p.Ala785Thr)
c.2398G>A (p.Ala800Thr)
c.2263G>A (p.Ala755Thr)
c.2395G>A (p.Ala799Thr)
c.2260G>A (p.Ala754Thr)
n.2556G>A
2g.71561891G>CCA347209810DYSFc.2302G>C (p.Ala768Pro)
c.2356G>C (p.Ala786Pro)
c.2305G>C (p.Ala769Pro)
c.2353G>C (p.Ala785Pro)
c.2398G>C (p.Ala800Pro)
c.2263G>C (p.Ala755Pro)
c.2395G>C (p.Ala799Pro)
c.2260G>C (p.Ala754Pro)
n.2556G>C
2g.71561891G>TCA347209803DYSFc.2302G>T (p.Ala768Ser)
c.2356G>T (p.Ala786Ser)
c.2305G>T (p.Ala769Ser)
c.2353G>T (p.Ala785Ser)
c.2398G>T (p.Ala800Ser)
c.2263G>T (p.Ala755Ser)
c.2395G>T (p.Ala799Ser)
c.2260G>T (p.Ala754Ser)
n.2556G>T
2g.71561892C>ACA347209812DYSFc.2303C>A (p.Ala768Asp)
c.2357C>A (p.Ala786Asp)
c.2306C>A (p.Ala769Asp)
c.2354C>A (p.Ala785Asp)
c.2399C>A (p.Ala800Asp)
c.2264C>A (p.Ala755Asp)
c.2396C>A (p.Ala799Asp)
c.2261C>A (p.Ala754Asp)
n.2557C>A
 gnomAD v4
2g.71561892C>GCA347209813DYSFc.2303C>G (p.Ala768Gly)
c.2357C>G (p.Ala786Gly)
c.2306C>G (p.Ala769Gly)
c.2354C>G (p.Ala785Gly)
c.2399C>G (p.Ala800Gly)
c.2264C>G (p.Ala755Gly)
c.2396C>G (p.Ala799Gly)
c.2261C>G (p.Ala754Gly)
n.2557C>G
2g.71561892C>TCA347209814DYSFc.2303C>T (p.Ala768Val)
c.2357C>T (p.Ala786Val)
c.2306C>T (p.Ala769Val)
c.2354C>T (p.Ala785Val)
c.2399C>T (p.Ala800Val)
c.2264C>T (p.Ala755Val)
c.2396C>T (p.Ala799Val)
c.2261C>T (p.Ala754Val)
n.2557C>T
2g.71561893T>ACA426701615DYSFc.2304T>A (p.Ala768=)
c.2358T>A (p.Ala786=)
c.2307T>A (p.Ala769=)
c.2355T>A (p.Ala785=)
c.2400T>A (p.Ala800=)
c.2265T>A (p.Ala755=)
c.2397T>A (p.Ala799=)
c.2262T>A (p.Ala754=)
n.2558T>A
2g.71561893T>CCA426701616DYSFc.2304T>C (p.Ala768=)
c.2358T>C (p.Ala786=)
c.2307T>C (p.Ala769=)
c.2355T>C (p.Ala785=)
c.2400T>C (p.Ala800=)
c.2265T>C (p.Ala755=)
c.2397T>C (p.Ala799=)
c.2262T>C (p.Ala754=)
n.2558T>C
 ClinVar dbSNP
2g.71561893T>GCA426701617DYSFc.2304T>G (p.Ala768=)
c.2358T>G (p.Ala786=)
c.2307T>G (p.Ala769=)
c.2355T>G (p.Ala785=)
c.2400T>G (p.Ala800=)
c.2265T>G (p.Ala755=)
c.2397T>G (p.Ala799=)
c.2262T>G (p.Ala754=)
n.2558T>G
 dbSNP
2g.71561893T=CA1260098854DYSFc.2304T= (p.Ala768=)
c.2358T= (p.Ala786=)
c.2307T= (p.Ala769=)
c.2355T= (p.Ala785=)
c.2400T= (p.Ala800=)
c.2265T= (p.Ala755=)
c.2397T= (p.Ala799=)
c.2262T= (p.Ala754=)
n.2558T=
2g.71561894C>ACA347209815DYSFc.2305C>A (p.Leu769Met)
c.2359C>A (p.Leu787Met)
c.2308C>A (p.Leu770Met)
c.2356C>A (p.Leu786Met)
c.2401C>A (p.Leu801Met)
c.2266C>A (p.Leu756Met)
c.2398C>A (p.Leu800Met)
c.2263C>A (p.Leu755Met)
n.2559C>A
2g.71561894C>GCA347209816DYSFc.2305C>G (p.Leu769Val)
c.2359C>G (p.Leu787Val)
c.2308C>G (p.Leu770Val)
c.2356C>G (p.Leu786Val)
c.2401C>G (p.Leu801Val)
c.2266C>G (p.Leu756Val)
c.2398C>G (p.Leu800Val)
c.2263C>G (p.Leu755Val)
n.2559C>G
2g.71561894C>TCA426701618DYSFc.2305C>T (p.Leu769=)
c.2359C>T (p.Leu787=)
c.2308C>T (p.Leu770=)
c.2356C>T (p.Leu786=)
c.2401C>T (p.Leu801=)
c.2266C>T (p.Leu756=)
c.2398C>T (p.Leu800=)
c.2263C>T (p.Leu755=)
n.2559C>T
2g.71561895T>ACA347209818DYSFc.2306T>A (p.Leu769Gln)
c.2360T>A (p.Leu787Gln)
c.2309T>A (p.Leu770Gln)
c.2357T>A (p.Leu786Gln)
c.2402T>A (p.Leu801Gln)
c.2267T>A (p.Leu756Gln)
c.2399T>A (p.Leu800Gln)
c.2264T>A (p.Leu755Gln)
n.2560T>A
2g.71561895T>CCA347209820DYSFc.2306T>C (p.Leu769Pro)
c.2360T>C (p.Leu787Pro)
c.2309T>C (p.Leu770Pro)
c.2357T>C (p.Leu786Pro)
c.2402T>C (p.Leu801Pro)
c.2267T>C (p.Leu756Pro)
c.2399T>C (p.Leu800Pro)
c.2264T>C (p.Leu755Pro)
n.2560T>C
 gnomAD v4
2g.71561895T>GCA347209821DYSFc.2306T>G (p.Leu769Arg)
c.2360T>G (p.Leu787Arg)
c.2309T>G (p.Leu770Arg)
c.2357T>G (p.Leu786Arg)
c.2402T>G (p.Leu801Arg)
c.2267T>G (p.Leu756Arg)
c.2399T>G (p.Leu800Arg)
c.2264T>G (p.Leu755Arg)
n.2560T>G
2g.71561896G>ACA426701619DYSFc.2307G>A (p.Leu769=)
c.2361G>A (p.Leu787=)
c.2310G>A (p.Leu770=)
c.2358G>A (p.Leu786=)
c.2403G>A (p.Leu801=)
c.2268G>A (p.Leu756=)
c.2400G>A (p.Leu800=)
c.2265G>A (p.Leu755=)
n.2561G>A
 ClinVar dbSNP
2g.71561896G>CCA426701621DYSFc.2307G>C (p.Leu769=)
c.2361G>C (p.Leu787=)
c.2310G>C (p.Leu770=)
c.2358G>C (p.Leu786=)
c.2403G>C (p.Leu801=)
c.2268G>C (p.Leu756=)
c.2400G>C (p.Leu800=)
c.2265G>C (p.Leu755=)
n.2561G>C
2g.71561896G=CA1260098856DYSFc.2307G= (p.Leu769=)
c.2361G= (p.Leu787=)
c.2310G= (p.Leu770=)
c.2358G= (p.Leu786=)
c.2403G= (p.Leu801=)
c.2268G= (p.Leu756=)
c.2400G= (p.Leu800=)
c.2265G= (p.Leu755=)
n.2561G=
2g.71561896G>TCA426701620DYSFc.2307G>T (p.Leu769=)
c.2361G>T (p.Leu787=)
c.2310G>T (p.Leu770=)
c.2358G>T (p.Leu786=)
c.2403G>T (p.Leu801=)
c.2268G>T (p.Leu756=)
c.2400G>T (p.Leu800=)
c.2265G>T (p.Leu755=)
n.2561G>T
2g.71561900_71561944delCA2697548238DYSFc.2311_2355del (p.Gln771_Glu785del)
c.2365_2409del (p.Gln789_Glu803del)
c.2314_2358del (p.Gln772_Glu786del)
c.2362_2406del (p.Gln788_Glu802del)
c.2407_2451del (p.Gln803_Glu817del)
c.2272_2316del (p.Gln758_Glu772del)
c.2404_2448del (p.Gln802_Glu816del)
c.2269_2313del (p.Gln757_Glu771del)
n.2565_2609del
 ClinVar
2g.71561897G>ACA347209826DYSFc.2308G>A (p.Glu770Lys)
c.2362G>A (p.Glu788Lys)
c.2311G>A (p.Glu771Lys)
c.2359G>A (p.Glu787Lys)
c.2404G>A (p.Glu802Lys)
c.2269G>A (p.Glu757Lys)
c.2401G>A (p.Glu801Lys)
c.2266G>A (p.Glu756Lys)
n.2562G>A
 gnomAD v4
2g.71561897G>CCA1706125DYSFc.2308G>C (p.Glu770Gln)
c.2362G>C (p.Glu788Gln)
c.2311G>C (p.Glu771Gln)
c.2359G>C (p.Glu787Gln)
c.2404G>C (p.Glu802Gln)
c.2269G>C (p.Glu757Gln)
c.2401G>C (p.Glu801Gln)
c.2266G>C (p.Glu756Gln)
n.2562G>C
 dbSNP ExAC
2g.71561897G=CA1260098860DYSFc.2308G= (p.Glu770=)
c.2362G= (p.Glu788=)
c.2311G= (p.Glu771=)
c.2359G= (p.Glu787=)
c.2404G= (p.Glu802=)
c.2269G= (p.Glu757=)
c.2401G= (p.Glu801=)
c.2266G= (p.Glu756=)
n.2562G=
2g.71561897G>TCA347209829DYSFc.2308G>T (p.Glu770Ter)
c.2362G>T (p.Glu788Ter)
c.2311G>T (p.Glu771Ter)
c.2359G>T (p.Glu787Ter)
c.2404G>T (p.Glu802Ter)
c.2269G>T (p.Glu757Ter)
c.2401G>T (p.Glu801Ter)
c.2266G>T (p.Glu756Ter)
n.2562G>T
2g.71561898A>CCA347209833DYSFc.2309A>C (p.Glu770Ala)
c.2363A>C (p.Glu788Ala)
c.2312A>C (p.Glu771Ala)
c.2360A>C (p.Glu787Ala)
c.2405A>C (p.Glu802Ala)
c.2270A>C (p.Glu757Ala)
c.2402A>C (p.Glu801Ala)
c.2267A>C (p.Glu756Ala)
n.2563A>C
2g.71561898A>GCA347209835DYSFc.2309A>G (p.Glu770Gly)
c.2363A>G (p.Glu788Gly)
c.2312A>G (p.Glu771Gly)
c.2360A>G (p.Glu787Gly)
c.2405A>G (p.Glu802Gly)
c.2270A>G (p.Glu757Gly)
c.2402A>G (p.Glu801Gly)
c.2267A>G (p.Glu756Gly)
n.2563A>G
2g.71561898A>TCA347209836DYSFc.2309A>T (p.Glu770Val)
c.2363A>T (p.Glu788Val)
c.2312A>T (p.Glu771Val)
c.2360A>T (p.Glu787Val)
c.2405A>T (p.Glu802Val)
c.2270A>T (p.Glu757Val)
c.2402A>T (p.Glu801Val)
c.2267A>T (p.Glu756Val)
n.2563A>T
2g.71561899G>ACA426701622DYSFc.2310G>A (p.Glu770=)
c.2364G>A (p.Glu788=)
c.2313G>A (p.Glu771=)
c.2361G>A (p.Glu787=)
c.2406G>A (p.Glu802=)
c.2271G>A (p.Glu757=)
c.2403G>A (p.Glu801=)
c.2268G>A (p.Glu756=)
n.2564G>A
2g.71561899G>CCA347209838DYSFc.2310G>C (p.Glu770Asp)
c.2364G>C (p.Glu788Asp)
c.2313G>C (p.Glu771Asp)
c.2361G>C (p.Glu787Asp)
c.2406G>C (p.Glu802Asp)
c.2271G>C (p.Glu757Asp)
c.2403G>C (p.Glu801Asp)
c.2268G>C (p.Glu756Asp)
n.2564G>C
2g.71561899G>TCA347209841DYSFc.2310G>T (p.Glu770Asp)
c.2364G>T (p.Glu788Asp)
c.2313G>T (p.Glu771Asp)
c.2361G>T (p.Glu787Asp)
c.2406G>T (p.Glu802Asp)
c.2271G>T (p.Glu757Asp)
c.2403G>T (p.Glu801Asp)
c.2268G>T (p.Glu756Asp)
n.2564G>T
2g.71561900C>ACA347209849DYSFc.2311C>A (p.Gln771Lys)
c.2365C>A (p.Gln789Lys)
c.2314C>A (p.Gln772Lys)
c.2362C>A (p.Gln788Lys)
c.2407C>A (p.Gln803Lys)
c.2272C>A (p.Gln758Lys)
c.2404C>A (p.Gln802Lys)
c.2269C>A (p.Gln757Lys)
n.2565C>A
2g.71561900C=CA1260098864DYSFc.2311C= (p.Gln771=)
c.2365C= (p.Gln789=)
c.2314C= (p.Gln772=)
c.2362C= (p.Gln788=)
c.2407C= (p.Gln803=)
c.2272C= (p.Gln758=)
c.2404C= (p.Gln802=)
c.2269C= (p.Gln757=)
n.2565C=
2g.71561900C>GCA347209851DYSFc.2311C>G (p.Gln771Glu)
c.2365C>G (p.Gln789Glu)
c.2314C>G (p.Gln772Glu)
c.2362C>G (p.Gln788Glu)
c.2407C>G (p.Gln803Glu)
c.2272C>G (p.Gln758Glu)
c.2404C>G (p.Gln802Glu)
c.2269C>G (p.Gln757Glu)
n.2565C>G
2g.71561900C>TCA222137DYSFc.2311C>T (p.Gln771Ter)
c.2365C>T (p.Gln789Ter)
c.2314C>T (p.Gln772Ter)
c.2362C>T (p.Gln788Ter)
c.2407C>T (p.Gln803Ter)
c.2272C>T (p.Gln758Ter)
c.2404C>T (p.Gln802Ter)
c.2269C>T (p.Gln757Ter)
n.2565C>T
 ClinVar dbSNP
2g.71561901A>CCA347209854DYSFc.2312A>C (p.Gln771Pro)
c.2366A>C (p.Gln789Pro)
c.2315A>C (p.Gln772Pro)
c.2363A>C (p.Gln788Pro)
c.2408A>C (p.Gln803Pro)
c.2273A>C (p.Gln758Pro)
c.2405A>C (p.Gln802Pro)
c.2270A>C (p.Gln757Pro)
n.2566A>C
2g.71561901A>GCA347209855DYSFc.2312A>G (p.Gln771Arg)
c.2366A>G (p.Gln789Arg)
c.2315A>G (p.Gln772Arg)
c.2363A>G (p.Gln788Arg)
c.2408A>G (p.Gln803Arg)
c.2273A>G (p.Gln758Arg)
c.2405A>G (p.Gln802Arg)
c.2270A>G (p.Gln757Arg)
n.2566A>G
2g.71561901A>TCA347209857DYSFc.2312A>T (p.Gln771Leu)
c.2366A>T (p.Gln789Leu)
c.2315A>T (p.Gln772Leu)
c.2363A>T (p.Gln788Leu)
c.2408A>T (p.Gln803Leu)
c.2273A>T (p.Gln758Leu)
c.2405A>T (p.Gln802Leu)
c.2270A>T (p.Gln757Leu)
n.2566A>T
2g.71561902G>ACA426701623DYSFc.2313G>A (p.Gln771=)
c.2367G>A (p.Gln789=)
c.2316G>A (p.Gln772=)
c.2364G>A (p.Gln788=)
c.2409G>A (p.Gln803=)
c.2274G>A (p.Gln758=)
c.2406G>A (p.Gln802=)
c.2271G>A (p.Gln757=)
n.2567G>A
 ClinVar dbSNP gnomAD v4
2g.71561902G>CCA347209859DYSFc.2313G>C (p.Gln771His)
c.2367G>C (p.Gln789His)
c.2316G>C (p.Gln772His)
c.2364G>C (p.Gln788His)
c.2409G>C (p.Gln803His)
c.2274G>C (p.Gln758His)
c.2406G>C (p.Gln802His)
c.2271G>C (p.Gln757His)
n.2567G>C
2g.71561902G>TCA347209860DYSFc.2313G>T (p.Gln771His)
c.2367G>T (p.Gln789His)
c.2316G>T (p.Gln772His)
c.2364G>T (p.Gln788His)
c.2409G>T (p.Gln803His)
c.2274G>T (p.Gln758His)
c.2406G>T (p.Gln802His)
c.2271G>T (p.Gln757His)
n.2567G>T
2g.71561903G>ACA347209861DYSFc.2314G>A (p.Ala772Thr)
c.2368G>A (p.Ala790Thr)
c.2317G>A (p.Ala773Thr)
c.2365G>A (p.Ala789Thr)
c.2410G>A (p.Ala804Thr)
c.2275G>A (p.Ala759Thr)
c.2407G>A (p.Ala803Thr)
c.2272G>A (p.Ala758Thr)
n.2568G>A
 dbSNP
2g.71561903G>CCA347209862DYSFc.2314G>C (p.Ala772Pro)
c.2368G>C (p.Ala790Pro)
c.2317G>C (p.Ala773Pro)
c.2365G>C (p.Ala789Pro)
c.2410G>C (p.Ala804Pro)
c.2275G>C (p.Ala759Pro)
c.2407G>C (p.Ala803Pro)
c.2272G>C (p.Ala758Pro)
n.2568G>C
2g.71561903G=CA1260098869DYSFc.2314G= (p.Ala772=)
c.2368G= (p.Ala790=)
c.2317G= (p.Ala773=)
c.2365G= (p.Ala789=)
c.2410G= (p.Ala804=)
c.2275G= (p.Ala759=)
c.2407G= (p.Ala803=)
c.2272G= (p.Ala758=)
n.2568G=
2g.71561903G>TCA347209864DYSFc.2314G>T (p.Ala772Ser)
c.2368G>T (p.Ala790Ser)
c.2317G>T (p.Ala773Ser)
c.2365G>T (p.Ala789Ser)
c.2410G>T (p.Ala804Ser)
c.2275G>T (p.Ala759Ser)
c.2407G>T (p.Ala803Ser)
c.2272G>T (p.Ala758Ser)
n.2568G>T
2g.71561904C>ACA1706127DYSFc.2315C>A (p.Ala772Glu)
c.2369C>A (p.Ala790Glu)
c.2318C>A (p.Ala773Glu)
c.2366C>A (p.Ala789Glu)
c.2411C>A (p.Ala804Glu)
c.2276C>A (p.Ala759Glu)
c.2408C>A (p.Ala803Glu)
c.2273C>A (p.Ala758Glu)
n.2569C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561904C=CA1260098872DYSFc.2315C= (p.Ala772=)
c.2369C= (p.Ala790=)
c.2318C= (p.Ala773=)
c.2366C= (p.Ala789=)
c.2411C= (p.Ala804=)
c.2276C= (p.Ala759=)
c.2408C= (p.Ala803=)
c.2273C= (p.Ala758=)
n.2569C=
2g.71561904C>GCA347209871DYSFc.2315C>G (p.Ala772Gly)
c.2369C>G (p.Ala790Gly)
c.2318C>G (p.Ala773Gly)
c.2366C>G (p.Ala789Gly)
c.2411C>G (p.Ala804Gly)
c.2276C>G (p.Ala759Gly)
c.2408C>G (p.Ala803Gly)
c.2273C>G (p.Ala758Gly)
n.2569C>G
2g.71561904C>TCA1706126DYSFc.2315C>T (p.Ala772Val)
c.2369C>T (p.Ala790Val)
c.2318C>T (p.Ala773Val)
c.2366C>T (p.Ala789Val)
c.2411C>T (p.Ala804Val)
c.2276C>T (p.Ala759Val)
c.2408C>T (p.Ala803Val)
c.2273C>T (p.Ala758Val)
n.2569C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561904_71561905delinsCGCA1260098874DYSFc.2315_2316delinsCG (p.Ala772=)
c.2369_2370delinsCG (p.Ala790=)
c.2318_2319delinsCG (p.Ala773=)
c.2366_2367delinsCG (p.Ala789=)
c.2411_2412delinsCG (p.Ala804=)
c.2276_2277delinsCG (p.Ala759=)
c.2408_2409delinsCG (p.Ala803=)
c.2273_2274delinsCG (p.Ala758=)
n.2569_2570delinsCG
2g.71561905G>ACA10606035DYSFc.2316G>A (p.Ala772=)
c.2370G>A (p.Ala790=)
c.2319G>A (p.Ala773=)
c.2367G>A (p.Ala789=)
c.2412G>A (p.Ala804=)
c.2277G>A (p.Ala759=)
c.2409G>A (p.Ala803=)
c.2274G>A (p.Ala758=)
n.2570G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561905G>CCA426701624DYSFc.2316G>C (p.Ala772=)
c.2370G>C (p.Ala790=)
c.2319G>C (p.Ala773=)
c.2367G>C (p.Ala789=)
c.2412G>C (p.Ala804=)
c.2277G>C (p.Ala759=)
c.2409G>C (p.Ala803=)
c.2274G>C (p.Ala758=)
n.2570G>C
2g.71561905G=CA1260098880DYSFc.2316G= (p.Ala772=)
c.2370G= (p.Ala790=)
c.2319G= (p.Ala773=)
c.2367G= (p.Ala789=)
c.2412G= (p.Ala804=)
c.2277G= (p.Ala759=)
c.2409G= (p.Ala803=)
c.2274G= (p.Ala758=)
n.2570G=
2g.71561905G>TCA426701625DYSFc.2316G>T (p.Ala772=)
c.2370G>T (p.Ala790=)
c.2319G>T (p.Ala773=)
c.2367G>T (p.Ala789=)
c.2412G>T (p.Ala804=)
c.2277G>T (p.Ala759=)
c.2409G>T (p.Ala803=)
c.2274G>T (p.Ala758=)
n.2570G>T
2g.71561906delCA913190079DYSFc.2317del (p.Glu773ArgfsTer?)
c.2371del (p.Glu791ArgfsTer?)
c.2320del (p.Glu774ArgfsTer?)
c.2368del (p.Glu790ArgfsTer?)
c.2413del (p.Glu805ArgfsTer?)
c.2278del (p.Glu760ArgfsTer?)
c.2410del (p.Glu804ArgfsTer?)
c.2275del (p.Glu759ArgfsTer?)
n.2571del
 ClinVar dbSNP
2g.71561906G>ACA347209877DYSFc.2317G>A (p.Glu773Lys)
c.2371G>A (p.Glu791Lys)
c.2320G>A (p.Glu774Lys)
c.2368G>A (p.Glu790Lys)
c.2413G>A (p.Glu805Lys)
c.2278G>A (p.Glu760Lys)
c.2410G>A (p.Glu804Lys)
c.2275G>A (p.Glu759Lys)
n.2571G>A
 COSMIC COSMIC
2g.71561906G>CCA347209876DYSFc.2317G>C (p.Glu773Gln)
c.2371G>C (p.Glu791Gln)
c.2320G>C (p.Glu774Gln)
c.2368G>C (p.Glu790Gln)
c.2413G>C (p.Glu805Gln)
c.2278G>C (p.Glu760Gln)
c.2410G>C (p.Glu804Gln)
c.2275G>C (p.Glu759Gln)
n.2571G>C
2g.71561906G>TCA347209879DYSFc.2317G>T (p.Glu773Ter)
c.2371G>T (p.Glu791Ter)
c.2320G>T (p.Glu774Ter)
c.2368G>T (p.Glu790Ter)
c.2413G>T (p.Glu805Ter)
c.2278G>T (p.Glu760Ter)
c.2410G>T (p.Glu804Ter)
c.2275G>T (p.Glu759Ter)
n.2571G>T
2g.71561907A>CCA347209881DYSFc.2318A>C (p.Glu773Ala)
c.2372A>C (p.Glu791Ala)
c.2321A>C (p.Glu774Ala)
c.2369A>C (p.Glu790Ala)
c.2414A>C (p.Glu805Ala)
c.2279A>C (p.Glu760Ala)
c.2411A>C (p.Glu804Ala)
c.2276A>C (p.Glu759Ala)
n.2572A>C
2g.71561907A>GCA347209886DYSFc.2318A>G (p.Glu773Gly)
c.2372A>G (p.Glu791Gly)
c.2321A>G (p.Glu774Gly)
c.2369A>G (p.Glu790Gly)
c.2414A>G (p.Glu805Gly)
c.2279A>G (p.Glu760Gly)
c.2411A>G (p.Glu804Gly)
c.2276A>G (p.Glu759Gly)
n.2572A>G
2g.71561907A>TCA347209883DYSFc.2318A>T (p.Glu773Val)
c.2372A>T (p.Glu791Val)
c.2321A>T (p.Glu774Val)
c.2369A>T (p.Glu790Val)
c.2414A>T (p.Glu805Val)
c.2279A>T (p.Glu760Val)
c.2411A>T (p.Glu804Val)
c.2276A>T (p.Glu759Val)
n.2572A>T
2g.71561908G>ACA426701626DYSFc.2319G>A (p.Glu773=)
c.2373G>A (p.Glu791=)
c.2322G>A (p.Glu774=)
c.2370G>A (p.Glu790=)
c.2415G>A (p.Glu805=)
c.2280G>A (p.Glu760=)
c.2412G>A (p.Glu804=)
c.2277G>A (p.Glu759=)
n.2573G>A
 gnomAD v4
2g.71561908G>CCA347209887DYSFc.2319G>C (p.Glu773Asp)
c.2373G>C (p.Glu791Asp)
c.2322G>C (p.Glu774Asp)
c.2370G>C (p.Glu790Asp)
c.2415G>C (p.Glu805Asp)
c.2280G>C (p.Glu760Asp)
c.2412G>C (p.Glu804Asp)
c.2277G>C (p.Glu759Asp)
n.2573G>C
2g.71561908G>TCA347209888DYSFc.2319G>T (p.Glu773Asp)
c.2373G>T (p.Glu791Asp)
c.2322G>T (p.Glu774Asp)
c.2370G>T (p.Glu790Asp)
c.2415G>T (p.Glu805Asp)
c.2280G>T (p.Glu760Asp)
c.2412G>T (p.Glu804Asp)
c.2277G>T (p.Glu759Asp)
n.2573G>T
2g.71561909G>ACA347209892DYSFc.2320G>A (p.Asp774Asn)
c.2374G>A (p.Asp792Asn)
c.2323G>A (p.Asp775Asn)
c.2371G>A (p.Asp791Asn)
c.2416G>A (p.Asp806Asn)
c.2281G>A (p.Asp761Asn)
c.2413G>A (p.Asp805Asn)
c.2278G>A (p.Asp760Asn)
n.2574G>A
 ClinVar dbSNP gnomAD v4
2g.71561909G>CCA347209894DYSFc.2320G>C (p.Asp774His)
c.2374G>C (p.Asp792His)
c.2323G>C (p.Asp775His)
c.2371G>C (p.Asp791His)
c.2416G>C (p.Asp806His)
c.2281G>C (p.Asp761His)
c.2413G>C (p.Asp805His)
c.2278G>C (p.Asp760His)
n.2574G>C
2g.71561909G>TCA347209897DYSFc.2320G>T (p.Asp774Tyr)
c.2374G>T (p.Asp792Tyr)
c.2323G>T (p.Asp775Tyr)
c.2371G>T (p.Asp791Tyr)
c.2416G>T (p.Asp806Tyr)
c.2281G>T (p.Asp761Tyr)
c.2413G>T (p.Asp805Tyr)
c.2278G>T (p.Asp760Tyr)
n.2574G>T
2g.71561910A=CA1260098887DYSFc.2321A= (p.Asp774=)
c.2375A= (p.Asp792=)
c.2324A= (p.Asp775=)
c.2372A= (p.Asp791=)
c.2417A= (p.Asp806=)
c.2282A= (p.Asp761=)
c.2414A= (p.Asp805=)
c.2279A= (p.Asp760=)
n.2575A=
2g.71561910A>CCA1706128DYSFc.2321A>C (p.Asp774Ala)
c.2375A>C (p.Asp792Ala)
c.2324A>C (p.Asp775Ala)
c.2372A>C (p.Asp791Ala)
c.2417A>C (p.Asp806Ala)
c.2282A>C (p.Asp761Ala)
c.2414A>C (p.Asp805Ala)
c.2279A>C (p.Asp760Ala)
n.2575A>C
 dbSNP ExAC gnomAD v4
2g.71561910A>GCA347209898DYSFc.2321A>G (p.Asp774Gly)
c.2375A>G (p.Asp792Gly)
c.2324A>G (p.Asp775Gly)
c.2372A>G (p.Asp791Gly)
c.2417A>G (p.Asp806Gly)
c.2282A>G (p.Asp761Gly)
c.2414A>G (p.Asp805Gly)
c.2279A>G (p.Asp760Gly)
n.2575A>G
2g.71561910A>TCA347209902DYSFc.2321A>T (p.Asp774Val)
c.2375A>T (p.Asp792Val)
c.2324A>T (p.Asp775Val)
c.2372A>T (p.Asp791Val)
c.2417A>T (p.Asp806Val)
c.2282A>T (p.Asp761Val)
c.2414A>T (p.Asp805Val)
c.2279A>T (p.Asp760Val)
n.2575A>T
2g.71561911C>ACA347209904DYSFc.2322C>A (p.Asp774Glu)
c.2376C>A (p.Asp792Glu)
c.2325C>A (p.Asp775Glu)
c.2373C>A (p.Asp791Glu)
c.2418C>A (p.Asp806Glu)
c.2283C>A (p.Asp761Glu)
c.2415C>A (p.Asp805Glu)
c.2280C>A (p.Asp760Glu)
n.2576C>A
2g.71561911C>GCA347209907DYSFc.2322C>G (p.Asp774Glu)
c.2376C>G (p.Asp792Glu)
c.2325C>G (p.Asp775Glu)
c.2373C>G (p.Asp791Glu)
c.2418C>G (p.Asp806Glu)
c.2283C>G (p.Asp761Glu)
c.2415C>G (p.Asp805Glu)
c.2280C>G (p.Asp760Glu)
n.2576C>G
2g.71561911C>TCA426701627DYSFc.2322C>T (p.Asp774=)
c.2376C>T (p.Asp792=)
c.2325C>T (p.Asp775=)
c.2373C>T (p.Asp791=)
c.2418C>T (p.Asp806=)
c.2283C>T (p.Asp761=)
c.2415C>T (p.Asp805=)
c.2280C>T (p.Asp760=)
n.2576C>T
 gnomAD v4
2g.71561912T>ACA347209909DYSFc.2323T>A (p.Trp775Arg)
c.2377T>A (p.Trp793Arg)
c.2326T>A (p.Trp776Arg)
c.2374T>A (p.Trp792Arg)
c.2419T>A (p.Trp807Arg)
c.2284T>A (p.Trp762Arg)
c.2416T>A (p.Trp806Arg)
c.2281T>A (p.Trp761Arg)
n.2577T>A
2g.71561912T>CCA1706129DYSFc.2323T>C (p.Trp775Arg)
c.2377T>C (p.Trp793Arg)
c.2326T>C (p.Trp776Arg)
c.2374T>C (p.Trp792Arg)
c.2419T>C (p.Trp807Arg)
c.2284T>C (p.Trp762Arg)
c.2416T>C (p.Trp806Arg)
c.2281T>C (p.Trp761Arg)
n.2577T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561912T>GCA347209912DYSFc.2323T>G (p.Trp775Gly)
c.2377T>G (p.Trp793Gly)
c.2326T>G (p.Trp776Gly)
c.2374T>G (p.Trp792Gly)
c.2419T>G (p.Trp807Gly)
c.2284T>G (p.Trp762Gly)
c.2416T>G (p.Trp806Gly)
c.2281T>G (p.Trp761Gly)
n.2577T>G
2g.71561912T=CA1260098894DYSFc.2323T= (p.Trp775=)
c.2377T= (p.Trp793=)
c.2326T= (p.Trp776=)
c.2374T= (p.Trp792=)
c.2419T= (p.Trp807=)
c.2284T= (p.Trp762=)
c.2416T= (p.Trp806=)
c.2281T= (p.Trp761=)
n.2577T=
2g.71561913G>ACA347209914DYSFc.2324G>A (p.Trp775Ter)
c.2378G>A (p.Trp793Ter)
c.2327G>A (p.Trp776Ter)
c.2375G>A (p.Trp792Ter)
c.2420G>A (p.Trp807Ter)
c.2285G>A (p.Trp762Ter)
c.2417G>A (p.Trp806Ter)
c.2282G>A (p.Trp761Ter)
n.2578G>A
 ClinVar dbSNP
2g.71561913G>CCA347209919DYSFc.2324G>C (p.Trp775Ser)
c.2378G>C (p.Trp793Ser)
c.2327G>C (p.Trp776Ser)
c.2375G>C (p.Trp792Ser)
c.2420G>C (p.Trp807Ser)
c.2285G>C (p.Trp762Ser)
c.2417G>C (p.Trp806Ser)
c.2282G>C (p.Trp761Ser)
n.2578G>C
2g.71561913G=CA1260098901DYSFc.2324G= (p.Trp775=)
c.2378G= (p.Trp793=)
c.2327G= (p.Trp776=)
c.2375G= (p.Trp792=)
c.2420G= (p.Trp807=)
c.2285G= (p.Trp762=)
c.2417G= (p.Trp806=)
c.2282G= (p.Trp761=)
n.2578G=
2g.71561913G>TCA347209918DYSFc.2324G>T (p.Trp775Leu)
c.2378G>T (p.Trp793Leu)
c.2327G>T (p.Trp776Leu)
c.2375G>T (p.Trp792Leu)
c.2420G>T (p.Trp807Leu)
c.2285G>T (p.Trp762Leu)
c.2417G>T (p.Trp806Leu)
c.2282G>T (p.Trp761Leu)
n.2578G>T
2g.71561914G>ACA347209922DYSFc.2325G>A (p.Trp775Ter)
c.2379G>A (p.Trp793Ter)
c.2328G>A (p.Trp776Ter)
c.2376G>A (p.Trp792Ter)
c.2421G>A (p.Trp807Ter)
c.2286G>A (p.Trp762Ter)
c.2418G>A (p.Trp806Ter)
c.2283G>A (p.Trp761Ter)
n.2579G>A
2g.71561914G>CCA347209924DYSFc.2325G>C (p.Trp775Cys)
c.2379G>C (p.Trp793Cys)
c.2328G>C (p.Trp776Cys)
c.2376G>C (p.Trp792Cys)
c.2421G>C (p.Trp807Cys)
c.2286G>C (p.Trp762Cys)
c.2418G>C (p.Trp806Cys)
c.2283G>C (p.Trp761Cys)
n.2579G>C
 dbSNP gnomAD v2 gnomAD v4
2g.71561914G=CA1260098924DYSFc.2325G= (p.Trp775=)
c.2379G= (p.Trp793=)
c.2328G= (p.Trp776=)
c.2376G= (p.Trp792=)
c.2421G= (p.Trp807=)
c.2286G= (p.Trp762=)
c.2418G= (p.Trp806=)
c.2283G= (p.Trp761=)
n.2579G=
2g.71561914G>TCA347209930DYSFc.2325G>T (p.Trp775Cys)
c.2379G>T (p.Trp793Cys)
c.2328G>T (p.Trp776Cys)
c.2376G>T (p.Trp792Cys)
c.2421G>T (p.Trp807Cys)
c.2286G>T (p.Trp762Cys)
c.2418G>T (p.Trp806Cys)
c.2283G>T (p.Trp761Cys)
n.2579G>T
2g.71561915C>ACA347209933DYSFc.2326C>A (p.Leu776Ile)
c.2380C>A (p.Leu794Ile)
c.2329C>A (p.Leu777Ile)
c.2377C>A (p.Leu793Ile)
c.2422C>A (p.Leu808Ile)
c.2287C>A (p.Leu763Ile)
c.2419C>A (p.Leu807Ile)
c.2284C>A (p.Leu762Ile)
n.2580C>A
2g.71561915C>GCA347209942DYSFc.2326C>G (p.Leu776Val)
c.2380C>G (p.Leu794Val)
c.2329C>G (p.Leu777Val)
c.2377C>G (p.Leu793Val)
c.2422C>G (p.Leu808Val)
c.2287C>G (p.Leu763Val)
c.2419C>G (p.Leu807Val)
c.2284C>G (p.Leu762Val)
n.2580C>G
2g.71561915C>TCA347209946DYSFc.2326C>T (p.Leu776Phe)
c.2380C>T (p.Leu794Phe)
c.2329C>T (p.Leu777Phe)
c.2377C>T (p.Leu793Phe)
c.2422C>T (p.Leu808Phe)
c.2287C>T (p.Leu763Phe)
c.2419C>T (p.Leu807Phe)
c.2284C>T (p.Leu762Phe)
n.2580C>T
2g.71561916T>ACA347209951DYSFc.2327T>A (p.Leu776His)
c.2381T>A (p.Leu794His)
c.2330T>A (p.Leu777His)
c.2378T>A (p.Leu793His)
c.2423T>A (p.Leu808His)
c.2288T>A (p.Leu763His)
c.2420T>A (p.Leu807His)
c.2285T>A (p.Leu762His)
n.2581T>A
2g.71561916T>CCA347209953DYSFc.2327T>C (p.Leu776Pro)
c.2381T>C (p.Leu794Pro)
c.2330T>C (p.Leu777Pro)
c.2378T>C (p.Leu793Pro)
c.2423T>C (p.Leu808Pro)
c.2288T>C (p.Leu763Pro)
c.2420T>C (p.Leu807Pro)
c.2285T>C (p.Leu762Pro)
n.2581T>C
 gnomAD v4
2g.71561916T>GCA347209954DYSFc.2327T>G (p.Leu776Arg)
c.2381T>G (p.Leu794Arg)
c.2330T>G (p.Leu777Arg)
c.2378T>G (p.Leu793Arg)
c.2423T>G (p.Leu808Arg)
c.2288T>G (p.Leu763Arg)
c.2420T>G (p.Leu807Arg)
c.2285T>G (p.Leu762Arg)
n.2581T>G
2g.71561917C>ACA426701628DYSFc.2328C>A (p.Leu776=)
c.2382C>A (p.Leu794=)
c.2331C>A (p.Leu777=)
c.2379C>A (p.Leu793=)
c.2424C>A (p.Leu808=)
c.2289C>A (p.Leu763=)
c.2421C>A (p.Leu807=)
c.2286C>A (p.Leu762=)
n.2582C>A
2g.71561917C=CA1260098926DYSFc.2328C= (p.Leu776=)
c.2382C= (p.Leu794=)
c.2331C= (p.Leu777=)
c.2379C= (p.Leu793=)
c.2424C= (p.Leu808=)
c.2289C= (p.Leu763=)
c.2421C= (p.Leu807=)
c.2286C= (p.Leu762=)
n.2582C=
2g.71561917C>GCA426701629DYSFc.2328C>G (p.Leu776=)
c.2382C>G (p.Leu794=)
c.2331C>G (p.Leu777=)
c.2379C>G (p.Leu793=)
c.2424C>G (p.Leu808=)
c.2289C>G (p.Leu763=)
c.2421C>G (p.Leu807=)
c.2286C>G (p.Leu762=)
n.2582C>G
 gnomAD v4 COSMIC COSMIC
2g.71561917C>TCA1706131DYSFc.2328C>T (p.Leu776=)
c.2382C>T (p.Leu794=)
c.2331C>T (p.Leu777=)
c.2379C>T (p.Leu793=)
c.2424C>T (p.Leu808=)
c.2289C>T (p.Leu763=)
c.2421C>T (p.Leu807=)
c.2286C>T (p.Leu762=)
n.2582C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561917_71561923delinsCCTGCGTCA1260098928DYSFc.2328_2334delinsCCTGCGT (p.Leu776=)
c.2382_2388delinsCCTGCGT (p.Leu794=)
c.2331_2337delinsCCTGCGT (p.Leu777=)
c.2379_2385delinsCCTGCGT (p.Leu793=)
c.2424_2430delinsCCTGCGT (p.Leu808=)
c.2289_2295delinsCCTGCGT (p.Leu763=)
c.2421_2427delinsCCTGCGT (p.Leu807=)
c.2286_2292delinsCCTGCGT (p.Leu762=)
n.2582_2588delinsCCTGCGT
2g.71561918C>ACA347209961DYSFc.2329C>A (p.Leu777Met)
c.2383C>A (p.Leu795Met)
c.2332C>A (p.Leu778Met)
c.2380C>A (p.Leu794Met)
c.2425C>A (p.Leu809Met)
c.2290C>A (p.Leu764Met)
c.2422C>A (p.Leu808Met)
c.2287C>A (p.Leu763Met)
n.2583C>A
2g.71561918C>GCA347209959DYSFc.2329C>G (p.Leu777Val)
c.2383C>G (p.Leu795Val)
c.2332C>G (p.Leu778Val)
c.2380C>G (p.Leu794Val)
c.2425C>G (p.Leu809Val)
c.2290C>G (p.Leu764Val)
c.2422C>G (p.Leu808Val)
c.2287C>G (p.Leu763Val)
n.2583C>G
2g.71561918C>TCA426701630DYSFc.2329C>T (p.Leu777=)
c.2383C>T (p.Leu795=)
c.2332C>T (p.Leu778=)
c.2380C>T (p.Leu794=)
c.2425C>T (p.Leu809=)
c.2290C>T (p.Leu764=)
c.2422C>T (p.Leu808=)
c.2287C>T (p.Leu763=)
n.2583C>T
 ClinVar
2g.71561924_71561929delCA1706130DYSFc.2335_2340del (p.Leu779_Arg780del)
c.2389_2394del (p.Leu797_Arg798del)
c.2338_2343del (p.Leu780_Arg781del)
c.2386_2391del (p.Leu796_Arg797del)
c.2431_2436del (p.Leu811_Arg812del)
c.2296_2301del (p.Leu766_Arg767del)
c.2428_2433del (p.Leu810_Arg811del)
c.2293_2298del (p.Leu765_Arg766del)
n.2589_2594del
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561919T>ACA347209965DYSFc.2330T>A (p.Leu777Gln)
c.2384T>A (p.Leu795Gln)
c.2333T>A (p.Leu778Gln)
c.2381T>A (p.Leu794Gln)
c.2426T>A (p.Leu809Gln)
c.2291T>A (p.Leu764Gln)
c.2423T>A (p.Leu808Gln)
c.2288T>A (p.Leu763Gln)
n.2584T>A
2g.71561919T>CCA347209967DYSFc.2330T>C (p.Leu777Pro)
c.2384T>C (p.Leu795Pro)
c.2333T>C (p.Leu778Pro)
c.2381T>C (p.Leu794Pro)
c.2426T>C (p.Leu809Pro)
c.2291T>C (p.Leu764Pro)
c.2423T>C (p.Leu808Pro)
c.2288T>C (p.Leu763Pro)
n.2584T>C
2g.71561919T>GCA347209968DYSFc.2330T>G (p.Leu777Arg)
c.2384T>G (p.Leu795Arg)
c.2333T>G (p.Leu778Arg)
c.2381T>G (p.Leu794Arg)
c.2426T>G (p.Leu809Arg)
c.2291T>G (p.Leu764Arg)
c.2423T>G (p.Leu808Arg)
c.2288T>G (p.Leu763Arg)
n.2584T>G
2g.71561920G>ACA426701632DYSFc.2331G>A (p.Leu777=)
c.2385G>A (p.Leu795=)
c.2334G>A (p.Leu778=)
c.2382G>A (p.Leu794=)
c.2427G>A (p.Leu809=)
c.2292G>A (p.Leu764=)
c.2424G>A (p.Leu808=)
c.2289G>A (p.Leu763=)
n.2585G>A
2g.71561920G>CCA426701631DYSFc.2331G>C (p.Leu777=)
c.2385G>C (p.Leu795=)
c.2334G>C (p.Leu778=)
c.2382G>C (p.Leu794=)
c.2427G>C (p.Leu809=)
c.2292G>C (p.Leu764=)
c.2424G>C (p.Leu808=)
c.2289G>C (p.Leu763=)
n.2585G>C
2g.71561920G=CA1260098933DYSFc.2331G= (p.Leu777=)
c.2385G= (p.Leu795=)
c.2334G= (p.Leu778=)
c.2382G= (p.Leu794=)
c.2427G= (p.Leu809=)
c.2292G= (p.Leu764=)
c.2424G= (p.Leu808=)
c.2289G= (p.Leu763=)
n.2585G=
2g.71561920G>TCA1706132DYSFc.2331G>T (p.Leu777=)
c.2385G>T (p.Leu795=)
c.2334G>T (p.Leu778=)
c.2382G>T (p.Leu794=)
c.2427G>T (p.Leu809=)
c.2292G>T (p.Leu764=)
c.2424G>T (p.Leu808=)
c.2289G>T (p.Leu763=)
n.2585G>T
 dbSNP ExAC COSMIC COSMIC
2g.71561921C>ACA347209971DYSFc.2332C>A (p.Arg778Ser)
c.2386C>A (p.Arg796Ser)
c.2335C>A (p.Arg779Ser)
c.2383C>A (p.Arg795Ser)
c.2428C>A (p.Arg810Ser)
c.2293C>A (p.Arg765Ser)
c.2425C>A (p.Arg809Ser)
c.2290C>A (p.Arg764Ser)
n.2586C>A
 ClinVar gnomAD v4
2g.71561921C=CA1260098938DYSFc.2332C= (p.Arg778=)
c.2386C= (p.Arg796=)
c.2335C= (p.Arg779=)
c.2383C= (p.Arg795=)
c.2428C= (p.Arg810=)
c.2293C= (p.Arg765=)
c.2425C= (p.Arg809=)
c.2290C= (p.Arg764=)
n.2586C=
2g.71561921C>GCA347209974DYSFc.2332C>G (p.Arg778Gly)
c.2386C>G (p.Arg796Gly)
c.2335C>G (p.Arg779Gly)
c.2383C>G (p.Arg795Gly)
c.2428C>G (p.Arg810Gly)
c.2293C>G (p.Arg765Gly)
c.2425C>G (p.Arg809Gly)
c.2290C>G (p.Arg764Gly)
n.2586C>G
2g.71561921C>TCA242324DYSFc.2332C>T (p.Arg778Cys)
c.2386C>T (p.Arg796Cys)
c.2335C>T (p.Arg779Cys)
c.2383C>T (p.Arg795Cys)
c.2428C>T (p.Arg810Cys)
c.2293C>T (p.Arg765Cys)
c.2425C>T (p.Arg809Cys)
c.2290C>T (p.Arg764Cys)
n.2586C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561922G>ACA1706133DYSFc.2333G>A (p.Arg778His)
c.2387G>A (p.Arg796His)
c.2336G>A (p.Arg779His)
c.2384G>A (p.Arg795His)
c.2429G>A (p.Arg810His)
c.2294G>A (p.Arg765His)
c.2426G>A (p.Arg809His)
c.2291G>A (p.Arg764His)
n.2587G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561922G>CCA347209981DYSFc.2333G>C (p.Arg778Pro)
c.2387G>C (p.Arg796Pro)
c.2336G>C (p.Arg779Pro)
c.2384G>C (p.Arg795Pro)
c.2429G>C (p.Arg810Pro)
c.2294G>C (p.Arg765Pro)
c.2426G>C (p.Arg809Pro)
c.2291G>C (p.Arg764Pro)
n.2587G>C
2g.71561922G=CA1260098945DYSFc.2333G= (p.Arg778=)
c.2387G= (p.Arg796=)
c.2336G= (p.Arg779=)
c.2384G= (p.Arg795=)
c.2429G= (p.Arg810=)
c.2294G= (p.Arg765=)
c.2426G= (p.Arg809=)
c.2291G= (p.Arg764=)
n.2587G=
2g.71561922G>TCA347209984DYSFc.2333G>T (p.Arg778Leu)
c.2387G>T (p.Arg796Leu)
c.2336G>T (p.Arg779Leu)
c.2384G>T (p.Arg795Leu)
c.2429G>T (p.Arg810Leu)
c.2294G>T (p.Arg765Leu)
c.2426G>T (p.Arg809Leu)
c.2291G>T (p.Arg764Leu)
n.2587G>T
 gnomAD v4
2g.71561923T>ACA426701633DYSFc.2334T>A (p.Arg778=)
c.2388T>A (p.Arg796=)
c.2337T>A (p.Arg779=)
c.2385T>A (p.Arg795=)
c.2430T>A (p.Arg810=)
c.2295T>A (p.Arg765=)
c.2427T>A (p.Arg809=)
c.2292T>A (p.Arg764=)
n.2588T>A
2g.71561923T>CCA426701634DYSFc.2334T>C (p.Arg778=)
c.2388T>C (p.Arg796=)
c.2337T>C (p.Arg779=)
c.2385T>C (p.Arg795=)
c.2430T>C (p.Arg810=)
c.2295T>C (p.Arg765=)
c.2427T>C (p.Arg809=)
c.2292T>C (p.Arg764=)
n.2588T>C
 ClinVar dbSNP
2g.71561923T>GCA426701635DYSFc.2334T>G (p.Arg778=)
c.2388T>G (p.Arg796=)
c.2337T>G (p.Arg779=)
c.2385T>G (p.Arg795=)
c.2430T>G (p.Arg810=)
c.2295T>G (p.Arg765=)
c.2427T>G (p.Arg809=)
c.2292T>G (p.Arg764=)
n.2588T>G
2g.71561924C>ACA347209985DYSFc.2335C>A (p.Leu779Met)
c.2389C>A (p.Leu797Met)
c.2338C>A (p.Leu780Met)
c.2386C>A (p.Leu796Met)
c.2431C>A (p.Leu811Met)
c.2296C>A (p.Leu766Met)
c.2428C>A (p.Leu810Met)
c.2293C>A (p.Leu765Met)
n.2589C>A
2g.71561924C>GCA347209986DYSFc.2335C>G (p.Leu779Val)
c.2389C>G (p.Leu797Val)
c.2338C>G (p.Leu780Val)
c.2386C>G (p.Leu796Val)
c.2431C>G (p.Leu811Val)
c.2296C>G (p.Leu766Val)
c.2428C>G (p.Leu810Val)
c.2293C>G (p.Leu765Val)
n.2589C>G
2g.71561924C>TCA426701636DYSFc.2335C>T (p.Leu779=)
c.2389C>T (p.Leu797=)
c.2338C>T (p.Leu780=)
c.2386C>T (p.Leu796=)
c.2431C>T (p.Leu811=)
c.2296C>T (p.Leu766=)
c.2428C>T (p.Leu810=)
c.2293C>T (p.Leu765=)
n.2589C>T
2g.71561925T>ACA347209990DYSFc.2336T>A (p.Leu779Gln)
c.2390T>A (p.Leu797Gln)
c.2339T>A (p.Leu780Gln)
c.2387T>A (p.Leu796Gln)
c.2432T>A (p.Leu811Gln)
c.2297T>A (p.Leu766Gln)
c.2429T>A (p.Leu810Gln)
c.2294T>A (p.Leu765Gln)
n.2590T>A
 gnomAD v4
2g.71561925T>CCA347209989DYSFc.2336T>C (p.Leu779Pro)
c.2390T>C (p.Leu797Pro)
c.2339T>C (p.Leu780Pro)
c.2387T>C (p.Leu796Pro)
c.2432T>C (p.Leu811Pro)
c.2297T>C (p.Leu766Pro)
c.2429T>C (p.Leu810Pro)
c.2294T>C (p.Leu765Pro)
n.2590T>C
2g.71561925T>GCA347209988DYSFc.2336T>G (p.Leu779Arg)
c.2390T>G (p.Leu797Arg)
c.2339T>G (p.Leu780Arg)
c.2387T>G (p.Leu796Arg)
c.2432T>G (p.Leu811Arg)
c.2297T>G (p.Leu766Arg)
c.2429T>G (p.Leu810Arg)
c.2294T>G (p.Leu765Arg)
n.2590T>G
2g.71561926G>ACA426701637DYSFc.2337G>A (p.Leu779=)
c.2391G>A (p.Leu797=)
c.2340G>A (p.Leu780=)
c.2388G>A (p.Leu796=)
c.2433G>A (p.Leu811=)
c.2298G>A (p.Leu766=)
c.2430G>A (p.Leu810=)
c.2295G>A (p.Leu765=)
n.2591G>A
2g.71561926G>CCA426701638DYSFc.2337G>C (p.Leu779=)
c.2391G>C (p.Leu797=)
c.2340G>C (p.Leu780=)
c.2388G>C (p.Leu796=)
c.2433G>C (p.Leu811=)
c.2298G>C (p.Leu766=)
c.2430G>C (p.Leu810=)
c.2295G>C (p.Leu765=)
n.2591G>C
2g.71561926G>TCA426701639DYSFc.2337G>T (p.Leu779=)
c.2391G>T (p.Leu797=)
c.2340G>T (p.Leu780=)
c.2388G>T (p.Leu796=)
c.2433G>T (p.Leu811=)
c.2298G>T (p.Leu766=)
c.2430G>T (p.Leu810=)
c.2295G>T (p.Leu765=)
n.2591G>T
2g.71561927C>ACA347209992DYSFc.2338C>A (p.Arg780Ser)
c.2392C>A (p.Arg798Ser)
c.2341C>A (p.Arg781Ser)
c.2389C>A (p.Arg797Ser)
c.2434C>A (p.Arg812Ser)
c.2299C>A (p.Arg767Ser)
c.2431C>A (p.Arg811Ser)
c.2296C>A (p.Arg766Ser)
n.2592C>A
2g.71561927C=CA1260098950DYSFc.2338C= (p.Arg780=)
c.2392C= (p.Arg798=)
c.2341C= (p.Arg781=)
c.2389C= (p.Arg797=)
c.2434C= (p.Arg812=)
c.2299C= (p.Arg767=)
c.2431C= (p.Arg811=)
c.2296C= (p.Arg766=)
n.2592C=
2g.71561927C>GCA347209993DYSFc.2338C>G (p.Arg780Gly)
c.2392C>G (p.Arg798Gly)
c.2341C>G (p.Arg781Gly)
c.2389C>G (p.Arg797Gly)
c.2434C>G (p.Arg812Gly)
c.2299C>G (p.Arg767Gly)
c.2431C>G (p.Arg811Gly)
c.2296C>G (p.Arg766Gly)
n.2592C>G
2g.71561927C>TCA1706134DYSFc.2338C>T (p.Arg780Cys)
c.2392C>T (p.Arg798Cys)
c.2341C>T (p.Arg781Cys)
c.2389C>T (p.Arg797Cys)
c.2434C>T (p.Arg812Cys)
c.2299C>T (p.Arg767Cys)
c.2431C>T (p.Arg811Cys)
c.2296C>T (p.Arg766Cys)
n.2592C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561928G>ACA1706135DYSFc.2339G>A (p.Arg780His)
c.2393G>A (p.Arg798His)
c.2342G>A (p.Arg781His)
c.2390G>A (p.Arg797His)
c.2435G>A (p.Arg812His)
c.2300G>A (p.Arg767His)
c.2432G>A (p.Arg811His)
c.2297G>A (p.Arg766His)
n.2593G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.71561928G>CCA347209997DYSFc.2339G>C (p.Arg780Pro)
c.2393G>C (p.Arg798Pro)
c.2342G>C (p.Arg781Pro)
c.2390G>C (p.Arg797Pro)
c.2435G>C (p.Arg812Pro)
c.2300G>C (p.Arg767Pro)
c.2432G>C (p.Arg811Pro)
c.2297G>C (p.Arg766Pro)
n.2593G>C
2g.71561928G=CA1260098951DYSFc.2339G= (p.Arg780=)
c.2393G= (p.Arg798=)
c.2342G= (p.Arg781=)
c.2390G= (p.Arg797=)
c.2435G= (p.Arg812=)
c.2300G= (p.Arg767=)
c.2432G= (p.Arg811=)
c.2297G= (p.Arg766=)
n.2593G=
2g.71561928G>TCA347210004DYSFc.2339G>T (p.Arg780Leu)
c.2393G>T (p.Arg798Leu)
c.2342G>T (p.Arg781Leu)
c.2390G>T (p.Arg797Leu)
c.2435G>T (p.Arg812Leu)
c.2300G>T (p.Arg767Leu)
c.2432G>T (p.Arg811Leu)
c.2297G>T (p.Arg766Leu)
n.2593G>T
2g.71561929T>ACA426701640DYSFc.2340T>A (p.Arg780=)
c.2394T>A (p.Arg798=)
c.2343T>A (p.Arg781=)
c.2391T>A (p.Arg797=)
c.2436T>A (p.Arg812=)
c.2301T>A (p.Arg767=)
c.2433T>A (p.Arg811=)
c.2298T>A (p.Arg766=)
n.2594T>A
2g.71561929T>CCA426701641DYSFc.2340T>C (p.Arg780=)
c.2394T>C (p.Arg798=)
c.2343T>C (p.Arg781=)
c.2391T>C (p.Arg797=)
c.2436T>C (p.Arg812=)
c.2301T>C (p.Arg767=)
c.2433T>C (p.Arg811=)
c.2298T>C (p.Arg766=)
n.2594T>C
2g.71561929T>GCA426701642DYSFc.2340T>G (p.Arg780=)
c.2394T>G (p.Arg798=)
c.2343T>G (p.Arg781=)
c.2391T>G (p.Arg797=)
c.2436T>G (p.Arg812=)
c.2301T>G (p.Arg767=)
c.2433T>G (p.Arg811=)
c.2298T>G (p.Arg766=)
n.2594T>G
2g.71561930G>ACA1706136DYSFc.2341G>A (p.Ala781Thr)
c.2395G>A (p.Ala799Thr)
c.2344G>A (p.Ala782Thr)
c.2392G>A (p.Ala798Thr)
c.2437G>A (p.Ala813Thr)
c.2302G>A (p.Ala768Thr)
c.2434G>A (p.Ala812Thr)
c.2299G>A (p.Ala767Thr)
n.2595G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561930G>CCA347210010DYSFc.2341G>C (p.Ala781Pro)
c.2395G>C (p.Ala799Pro)
c.2344G>C (p.Ala782Pro)
c.2392G>C (p.Ala798Pro)
c.2437G>C (p.Ala813Pro)
c.2302G>C (p.Ala768Pro)
c.2434G>C (p.Ala812Pro)
c.2299G>C (p.Ala767Pro)
n.2595G>C
2g.71561930G=CA1260098952DYSFc.2341G= (p.Ala781=)
c.2395G= (p.Ala799=)
c.2344G= (p.Ala782=)
c.2392G= (p.Ala798=)
c.2437G= (p.Ala813=)
c.2302G= (p.Ala768=)
c.2434G= (p.Ala812=)
c.2299G= (p.Ala767=)
n.2595G=
2g.71561930G>TCA347210011DYSFc.2341G>T (p.Ala781Ser)
c.2395G>T (p.Ala799Ser)
c.2344G>T (p.Ala782Ser)
c.2392G>T (p.Ala798Ser)
c.2437G>T (p.Ala813Ser)
c.2302G>T (p.Ala768Ser)
c.2434G>T (p.Ala812Ser)
c.2299G>T (p.Ala767Ser)
n.2595G>T
 dbSNP
2g.71561931C>ACA347210016DYSFc.2342C>A (p.Ala781Asp)
c.2396C>A (p.Ala799Asp)
c.2345C>A (p.Ala782Asp)
c.2393C>A (p.Ala798Asp)
c.2438C>A (p.Ala813Asp)
c.2303C>A (p.Ala768Asp)
c.2435C>A (p.Ala812Asp)
c.2300C>A (p.Ala767Asp)
n.2596C>A
2g.71561931C>GCA347210035DYSFc.2342C>G (p.Ala781Gly)
c.2396C>G (p.Ala799Gly)
c.2345C>G (p.Ala782Gly)
c.2393C>G (p.Ala798Gly)
c.2438C>G (p.Ala813Gly)
c.2303C>G (p.Ala768Gly)
c.2435C>G (p.Ala812Gly)
c.2300C>G (p.Ala767Gly)
n.2596C>G
2g.71561931C>TCA347210038DYSFc.2342C>T (p.Ala781Val)
c.2396C>T (p.Ala799Val)
c.2345C>T (p.Ala782Val)
c.2393C>T (p.Ala798Val)
c.2438C>T (p.Ala813Val)
c.2303C>T (p.Ala768Val)
c.2435C>T (p.Ala812Val)
c.2300C>T (p.Ala767Val)
n.2596C>T
2g.71561933delCA2739271026DYSFc.2344del (p.Leu782TrpfsTer?)
c.2398del (p.Leu800TrpfsTer?)
c.2347del (p.Leu783TrpfsTer?)
c.2395del (p.Leu799TrpfsTer?)
c.2440del (p.Leu814TrpfsTer?)
c.2305del (p.Leu769TrpfsTer?)
c.2437del (p.Leu813TrpfsTer?)
c.2302del (p.Leu768TrpfsTer?)
n.2598del
 ClinVar
2g.71561932C>ACA1706137DYSFc.2343C>A (p.Ala781=)
c.2397C>A (p.Ala799=)
c.2346C>A (p.Ala782=)
c.2394C>A (p.Ala798=)
c.2439C>A (p.Ala813=)
c.2304C>A (p.Ala768=)
c.2436C>A (p.Ala812=)
c.2301C>A (p.Ala767=)
n.2597C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561932C=CA1260098953DYSFc.2343C= (p.Ala781=)
c.2397C= (p.Ala799=)
c.2346C= (p.Ala782=)
c.2394C= (p.Ala798=)
c.2439C= (p.Ala813=)
c.2304C= (p.Ala768=)
c.2436C= (p.Ala812=)
c.2301C= (p.Ala767=)
n.2597C=
2g.71561932C>GCA426701644DYSFc.2343C>G (p.Ala781=)
c.2397C>G (p.Ala799=)
c.2346C>G (p.Ala782=)
c.2394C>G (p.Ala798=)
c.2439C>G (p.Ala813=)
c.2304C>G (p.Ala768=)
c.2436C>G (p.Ala812=)
c.2301C>G (p.Ala767=)
n.2597C>G
 ClinVar
2g.71561932C>TCA426701643DYSFc.2343C>T (p.Ala781=)
c.2397C>T (p.Ala799=)
c.2346C>T (p.Ala782=)
c.2394C>T (p.Ala798=)
c.2439C>T (p.Ala813=)
c.2304C>T (p.Ala768=)
c.2436C>T (p.Ala812=)
c.2301C>T (p.Ala767=)
n.2597C>T
2g.71561933C>ACA347210052DYSFc.2344C>A (p.Leu782Met)
c.2398C>A (p.Leu800Met)
c.2347C>A (p.Leu783Met)
c.2395C>A (p.Leu799Met)
c.2440C>A (p.Leu814Met)
c.2305C>A (p.Leu769Met)
c.2437C>A (p.Leu813Met)
c.2302C>A (p.Leu768Met)
n.2598C>A
2g.71561933C>GCA347210053DYSFc.2344C>G (p.Leu782Val)
c.2398C>G (p.Leu800Val)
c.2347C>G (p.Leu783Val)
c.2395C>G (p.Leu799Val)
c.2440C>G (p.Leu814Val)
c.2305C>G (p.Leu769Val)
c.2437C>G (p.Leu813Val)
c.2302C>G (p.Leu768Val)
n.2598C>G
2g.71561933C>TCA426701645DYSFc.2344C>T (p.Leu782=)
c.2398C>T (p.Leu800=)
c.2347C>T (p.Leu783=)
c.2395C>T (p.Leu799=)
c.2440C>T (p.Leu814=)
c.2305C>T (p.Leu769=)
c.2437C>T (p.Leu813=)
c.2302C>T (p.Leu768=)
n.2598C>T
 gnomAD v4
2g.71561934T>ACA347210055DYSFc.2345T>A (p.Leu782Gln)
c.2399T>A (p.Leu800Gln)
c.2348T>A (p.Leu783Gln)
c.2396T>A (p.Leu799Gln)
c.2441T>A (p.Leu814Gln)
c.2306T>A (p.Leu769Gln)
c.2438T>A (p.Leu813Gln)
c.2303T>A (p.Leu768Gln)
n.2599T>A
2g.71561934T>CCA347210056DYSFc.2345T>C (p.Leu782Pro)
c.2399T>C (p.Leu800Pro)
c.2348T>C (p.Leu783Pro)
c.2396T>C (p.Leu799Pro)
c.2441T>C (p.Leu814Pro)
c.2306T>C (p.Leu769Pro)
c.2438T>C (p.Leu813Pro)
c.2303T>C (p.Leu768Pro)
n.2599T>C
 gnomAD v4
2g.71561934T>GCA347210058DYSFc.2345T>G (p.Leu782Arg)
c.2399T>G (p.Leu800Arg)
c.2348T>G (p.Leu783Arg)
c.2396T>G (p.Leu799Arg)
c.2441T>G (p.Leu814Arg)
c.2306T>G (p.Leu769Arg)
c.2438T>G (p.Leu813Arg)
c.2303T>G (p.Leu768Arg)
n.2599T>G
2g.71561935G>ACA1706138DYSFc.2346G>A (p.Leu782=)
c.2400G>A (p.Leu800=)
c.2349G>A (p.Leu783=)
c.2397G>A (p.Leu799=)
c.2442G>A (p.Leu814=)
c.2307G>A (p.Leu769=)
c.2439G>A (p.Leu813=)
c.2304G>A (p.Leu768=)
n.2600G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561935G>CCA426701646DYSFc.2346G>C (p.Leu782=)
c.2400G>C (p.Leu800=)
c.2349G>C (p.Leu783=)
c.2397G>C (p.Leu799=)
c.2442G>C (p.Leu814=)
c.2307G>C (p.Leu769=)
c.2439G>C (p.Leu813=)
c.2304G>C (p.Leu768=)
n.2600G>C
2g.71561935G=CA1260098959DYSFc.2346G= (p.Leu782=)
c.2400G= (p.Leu800=)
c.2349G= (p.Leu783=)
c.2397G= (p.Leu799=)
c.2442G= (p.Leu814=)
c.2307G= (p.Leu769=)
c.2439G= (p.Leu813=)
c.2304G= (p.Leu768=)
n.2600G=
2g.71561935G>TCA426701647DYSFc.2346G>T (p.Leu782=)
c.2400G>T (p.Leu800=)
c.2349G>T (p.Leu783=)
c.2397G>T (p.Leu799=)
c.2442G>T (p.Leu814=)
c.2307G>T (p.Leu769=)
c.2439G>T (p.Leu813=)
c.2304G>T (p.Leu768=)
n.2600G>T
2g.71561936G>ACA347210072DYSFc.2347G>A (p.Ala783Thr)
c.2401G>A (p.Ala801Thr)
c.2350G>A (p.Ala784Thr)
c.2398G>A (p.Ala800Thr)
c.2443G>A (p.Ala815Thr)
c.2308G>A (p.Ala770Thr)
c.2440G>A (p.Ala814Thr)
c.2305G>A (p.Ala769Thr)
n.2601G>A
 dbSNP gnomAD v2
2g.71561936G>CCA347210077DYSFc.2347G>C (p.Ala783Pro)
c.2401G>C (p.Ala801Pro)
c.2350G>C (p.Ala784Pro)
c.2398G>C (p.Ala800Pro)
c.2443G>C (p.Ala815Pro)
c.2308G>C (p.Ala770Pro)
c.2440G>C (p.Ala814Pro)
c.2305G>C (p.Ala769Pro)
n.2601G>C
2g.71561936G=CA1260098962DYSFc.2347G= (p.Ala783=)
c.2401G= (p.Ala801=)
c.2350G= (p.Ala784=)
c.2398G= (p.Ala800=)
c.2443G= (p.Ala815=)
c.2308G= (p.Ala770=)
c.2440G= (p.Ala814=)
c.2305G= (p.Ala769=)
n.2601G=
2g.71561936G>TCA347210080DYSFc.2347G>T (p.Ala783Ser)
c.2401G>T (p.Ala801Ser)
c.2350G>T (p.Ala784Ser)
c.2398G>T (p.Ala800Ser)
c.2443G>T (p.Ala815Ser)
c.2308G>T (p.Ala770Ser)
c.2440G>T (p.Ala814Ser)
c.2305G>T (p.Ala769Ser)
n.2601G>T
2g.71561937C>ACA347210085DYSFc.2348C>A (p.Ala783Glu)
c.2402C>A (p.Ala801Glu)
c.2351C>A (p.Ala784Glu)
c.2399C>A (p.Ala800Glu)
c.2444C>A (p.Ala815Glu)
c.2309C>A (p.Ala770Glu)
c.2441C>A (p.Ala814Glu)
c.2306C>A (p.Ala769Glu)
n.2602C>A
2g.71561937C=CA1260098965DYSFc.2348C= (p.Ala783=)
c.2402C= (p.Ala801=)
c.2351C= (p.Ala784=)
c.2399C= (p.Ala800=)
c.2444C= (p.Ala815=)
c.2309C= (p.Ala770=)
c.2441C= (p.Ala814=)
c.2306C= (p.Ala769=)
n.2602C=
2g.71561937C>GCA347210087DYSFc.2348C>G (p.Ala783Gly)
c.2402C>G (p.Ala801Gly)
c.2351C>G (p.Ala784Gly)
c.2399C>G (p.Ala800Gly)
c.2444C>G (p.Ala815Gly)
c.2309C>G (p.Ala770Gly)
c.2441C>G (p.Ala814Gly)
c.2306C>G (p.Ala769Gly)
n.2602C>G
2g.71561937C>TCA1706139DYSFc.2348C>T (p.Ala783Val)
c.2402C>T (p.Ala801Val)
c.2351C>T (p.Ala784Val)
c.2399C>T (p.Ala800Val)
c.2444C>T (p.Ala815Val)
c.2309C>T (p.Ala770Val)
c.2441C>T (p.Ala814Val)
c.2306C>T (p.Ala769Val)
n.2602C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.71561938A>CCA426701648DYSFc.2349A>C (p.Ala783=)
c.2403A>C (p.Ala801=)
c.2352A>C (p.Ala784=)
c.2400A>C (p.Ala800=)
c.2445A>C (p.Ala815=)
c.2310A>C (p.Ala770=)
c.2442A>C (p.Ala814=)
c.2307A>C (p.Ala769=)
n.2603A>C
2g.71561938A>GCA426701649DYSFc.2349A>G (p.Ala783=)
c.2403A>G (p.Ala801=)
c.2352A>G (p.Ala784=)
c.2400A>G (p.Ala800=)
c.2445A>G (p.Ala815=)
c.2310A>G (p.Ala770=)
c.2442A>G (p.Ala814=)
c.2307A>G (p.Ala769=)
n.2603A>G
2g.71561938A>TCA426701650DYSFc.2349A>T (p.Ala783=)
c.2403A>T (p.Ala801=)
c.2352A>T (p.Ala784=)
c.2400A>T (p.Ala800=)
c.2445A>T (p.Ala815=)
c.2310A>T (p.Ala770=)
c.2442A>T (p.Ala814=)
c.2307A>T (p.Ala769=)
n.2603A>T
2g.71561939G>ACA347210091DYSFc.2350G>A (p.Glu784Lys)
c.2404G>A (p.Glu802Lys)
c.2353G>A (p.Glu785Lys)
c.2401G>A (p.Glu801Lys)
c.2446G>A (p.Glu816Lys)
c.2311G>A (p.Glu771Lys)
c.2443G>A (p.Glu815Lys)
c.2308G>A (p.Glu770Lys)
n.2604G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.71561939G>CCA347210093DYSFc.2350G>C (p.Glu784Gln)
c.2404G>C (p.Glu802Gln)
c.2353G>C (p.Glu785Gln)
c.2401G>C (p.Glu801Gln)
c.2446G>C (p.Glu816Gln)
c.2311G>C (p.Glu771Gln)
c.2443G>C (p.Glu815Gln)
c.2308G>C (p.Glu770Gln)
n.2604G>C
2g.71561939G=CA1260098969DYSFc.2350G= (p.Glu784=)
c.2404G= (p.Glu802=)
c.2353G= (p.Glu785=)
c.2401G= (p.Glu801=)
c.2446G= (p.Glu816=)
c.2311G= (p.Glu771=)
c.2443G= (p.Glu815=)
c.2308G= (p.Glu770=)
n.2604G=
2g.71561939G>TCA347210095DYSFc.2350G>T (p.Glu784Ter)
c.2404G>T (p.Glu802Ter)
c.2353G>T (p.Glu785Ter)
c.2401G>T (p.Glu801Ter)
c.2446G>T (p.Glu816Ter)
c.2311G>T (p.Glu771Ter)
c.2443G>T (p.Glu815Ter)
c.2308G>T (p.Glu770Ter)
n.2604G>T
2g.71561940A>CCA347210103DYSFc.2351A>C (p.Glu784Ala)
c.2405A>C (p.Glu802Ala)
c.2354A>C (p.Glu785Ala)
c.2402A>C (p.Glu801Ala)
c.2447A>C (p.Glu816Ala)
c.2312A>C (p.Glu771Ala)
c.2444A>C (p.Glu815Ala)
c.2309A>C (p.Glu770Ala)
n.2605A>C
2g.71561940A>GCA347210101DYSFc.2351A>G (p.Glu784Gly)
c.2405A>G (p.Glu802Gly)
c.2354A>G (p.Glu785Gly)
c.2402A>G (p.Glu801Gly)
c.2447A>G (p.Glu816Gly)
c.2312A>G (p.Glu771Gly)
c.2444A>G (p.Glu815Gly)
c.2309A>G (p.Glu770Gly)
n.2605A>G
2g.71561940A>TCA347210099DYSFc.2351A>T (p.Glu784Val)
c.2405A>T (p.Glu802Val)
c.2354A>T (p.Glu785Val)
c.2402A>T (p.Glu801Val)
c.2447A>T (p.Glu816Val)
c.2312A>T (p.Glu771Val)
c.2444A>T (p.Glu815Val)
c.2309A>T (p.Glu770Val)
n.2605A>T
2g.71561940_71561945delinsAGGAGGCA1260098971DYSFc.2351_2355+1delinsAGGAGG
c.2405_2409+1delinsAGGAGG
c.2354_2358+1delinsAGGAGG
c.2402_2406+1delinsAGGAGG
c.2447_2451+1delinsAGGAGG
c.2312_2316+1delinsAGGAGG
c.2444_2448+1delinsAGGAGG
c.2309_2313+1delinsAGGAGG
n.2605_2609+1delinsAGGAGG
2g.71561941G>ACA426701651DYSFc.2352G>A (p.Glu784=)
c.2406G>A (p.Glu802=)
c.2355G>A (p.Glu785=)
c.2403G>A (p.Glu801=)
c.2448G>A (p.Glu816=)
c.2313G>A (p.Glu771=)
c.2445G>A (p.Glu815=)
c.2310G>A (p.Glu770=)
n.2606G>A
 ClinVar gnomAD v4
2g.71561941G>CCA347210114DYSFc.2352G>C (p.Glu784Asp)
c.2406G>C (p.Glu802Asp)
c.2355G>C (p.Glu785Asp)
c.2403G>C (p.Glu801Asp)
c.2448G>C (p.Glu816Asp)
c.2313G>C (p.Glu771Asp)
c.2445G>C (p.Glu815Asp)
c.2310G>C (p.Glu770Asp)
n.2606G>C
2g.71561941G>TCA347210117DYSFc.2352G>T (p.Glu784Asp)
c.2406G>T (p.Glu802Asp)
c.2355G>T (p.Glu785Asp)
c.2403G>T (p.Glu801Asp)
c.2448G>T (p.Glu816Asp)
c.2313G>T (p.Glu771Asp)
c.2445G>T (p.Glu815Asp)
c.2310G>T (p.Glu770Asp)
n.2606G>T
 gnomAD v4
2g.71561941_71561945delCA49740952DYSFc.2352_2355+1del
c.2406_2409+1del
c.2355_2358+1del
c.2403_2406+1del
c.2448_2451+1del
c.2313_2316+1del
c.2445_2448+1del
c.2310_2313+1del
n.2606_2609+1del
 ClinVar dbSNP
2g.71561942G>ACA347210122DYSFc.2353G>A (p.Glu785Lys)
c.2407G>A (p.Glu803Lys)
c.2356G>A (p.Glu786Lys)
c.2404G>A (p.Glu802Lys)
c.2449G>A (p.Glu817Lys)
c.2314G>A (p.Glu772Lys)
c.2446G>A (p.Glu816Lys)
c.2311G>A (p.Glu771Lys)
n.2607G>A
2g.71561942G>CCA347210126DYSFc.2353G>C (p.Glu785Gln)
c.2407G>C (p.Glu803Gln)
c.2356G>C (p.Glu786Gln)
c.2404G>C (p.Glu802Gln)
c.2449G>C (p.Glu817Gln)
c.2314G>C (p.Glu772Gln)
c.2446G>C (p.Glu816Gln)
c.2311G>C (p.Glu771Gln)
n.2607G>C
2g.71561942G>TCA347210140DYSFc.2353G>T (p.Glu785Ter)
c.2407G>T (p.Glu803Ter)
c.2356G>T (p.Glu786Ter)
c.2404G>T (p.Glu802Ter)
c.2449G>T (p.Glu817Ter)
c.2314G>T (p.Glu772Ter)
c.2446G>T (p.Glu816Ter)
c.2311G>T (p.Glu771Ter)
n.2607G>T
2g.71561943A>CCA347210143DYSFc.2354A>C (p.Glu785Ala)
c.2408A>C (p.Glu803Ala)
c.2357A>C (p.Glu786Ala)
c.2405A>C (p.Glu802Ala)
c.2450A>C (p.Glu817Ala)
c.2315A>C (p.Glu772Ala)
c.2447A>C (p.Glu816Ala)
c.2312A>C (p.Glu771Ala)
n.2608A>C
2g.71561943A>GCA347210146DYSFc.2354A>G (p.Glu785Gly)
c.2408A>G (p.Glu803Gly)
c.2357A>G (p.Glu786Gly)
c.2405A>G (p.Glu802Gly)
c.2450A>G (p.Glu817Gly)
c.2315A>G (p.Glu772Gly)
c.2447A>G (p.Glu816Gly)
c.2312A>G (p.Glu771Gly)
n.2608A>G
2g.71561943A>TCA347210153DYSFc.2354A>T (p.Glu785Val)
c.2408A>T (p.Glu803Val)
c.2357A>T (p.Glu786Val)
c.2405A>T (p.Glu802Val)
c.2450A>T (p.Glu817Val)
c.2315A>T (p.Glu772Val)
c.2447A>T (p.Glu816Val)
c.2312A>T (p.Glu771Val)
n.2608A>T
2g.71561944G>ACA426701652DYSFc.2355G>A (p.Glu785=)
c.2409G>A (p.Glu803=)
c.2358G>A (p.Glu786=)
c.2406G>A (p.Glu802=)
c.2451G>A (p.Glu817=)
c.2316G>A (p.Glu772=)
c.2448G>A (p.Glu816=)
c.2313G>A (p.Glu771=)
n.2609G>A
2g.71561944G>CCA347210156DYSFc.2355G>C (p.Glu785Asp)
c.2409G>C (p.Glu803Asp)
c.2358G>C (p.Glu786Asp)
c.2406G>C (p.Glu802Asp)
c.2451G>C (p.Glu817Asp)
c.2316G>C (p.Glu772Asp)
c.2448G>C (p.Glu816Asp)
c.2313G>C (p.Glu771Asp)
n.2609G>C
2g.71561944G=CA1260098978DYSFc.2355G= (p.Glu785=)
c.2409G= (p.Glu803=)
c.2358G= (p.Glu786=)
c.2406G= (p.Glu802=)
c.2451G= (p.Glu817=)
c.2316G= (p.Glu772=)
c.2448G= (p.Glu816=)
c.2313G= (p.Glu771=)
n.2609G=
2g.71561944G>TCA347210159DYSFc.2355G>T (p.Glu785Asp)
c.2409G>T (p.Glu803Asp)
c.2358G>T (p.Glu786Asp)
c.2406G>T (p.Glu802Asp)
c.2451G>T (p.Glu817Asp)
c.2316G>T (p.Glu772Asp)
c.2448G>T (p.Glu816Asp)
c.2313G>T (p.Glu771Asp)
n.2609G>T
 dbSNP
2g.71561945G>ACA10604289DYSFc.2355+1G>A (n.2355+1G>A)
c.2409+1G>A (n.2409+1G>A)
c.2358+1G>A (n.2358+1G>A)
c.2406+1G>A (n.2406+1G>A)
c.2451+1G>A (n.2451+1G>A)
c.2316+1G>A (n.2316+1G>A)
c.2448+1G>A (n.2448+1G>A)
c.2313+1G>A (n.2313+1G>A)
n.2609+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.71561945G>CCA347210174DYSFc.2355+1G>C (n.2355+1G>C)
c.2409+1G>C (n.2409+1G>C)
c.2358+1G>C (n.2358+1G>C)
c.2406+1G>C (n.2406+1G>C)
c.2451+1G>C (n.2451+1G>C)
c.2316+1G>C (n.2316+1G>C)
c.2448+1G>C (n.2448+1G>C)
c.2313+1G>C (n.2313+1G>C)
n.2609+1G>C
2g.71561945G=CA1260098985DYSFc.2355+1G= (n.2355+1G=)
c.2409+1G= (n.2409+1G=)
c.2358+1G= (n.2358+1G=)
c.2406+1G= (n.2406+1G=)
c.2451+1G= (n.2451+1G=)
c.2316+1G= (n.2316+1G=)
c.2448+1G= (n.2448+1G=)
c.2313+1G= (n.2313+1G=)
n.2609+1G=
2g.71561945G>TCA347210175DYSFc.2355+1G>T (n.2355+1G>T)
c.2409+1G>T (n.2409+1G>T)
c.2358+1G>T (n.2358+1G>T)
c.2406+1G>T (n.2406+1G>T)
c.2451+1G>T (n.2451+1G>T)
c.2316+1G>T (n.2316+1G>T)
c.2448+1G>T (n.2448+1G>T)
c.2313+1G>T (n.2313+1G>T)
n.2609+1G>T
 ClinVar gnomAD v4
2g.71561946T>ACA1706140DYSFc.2355+2T>A (n.2355+2T>A)
c.2409+2T>A (n.2409+2T>A)
c.2358+2T>A (n.2358+2T>A)
c.2406+2T>A (n.2406+2T>A)
c.2451+2T>A (n.2451+2T>A)
c.2316+2T>A (n.2316+2T>A)
c.2448+2T>A (n.2448+2T>A)
c.2313+2T>A (n.2313+2T>A)
n.2609+2T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.71561946T>CCA347210179DYSFc.2355+2T>C (n.2355+2T>C)
c.2409+2T>C (n.2409+2T>C)
c.2358+2T>C (n.2358+2T>C)
c.2406+2T>C (n.2406+2T>C)
c.2451+2T>C (n.2451+2T>C)
c.2316+2T>C (n.2316+2T>C)
c.2448+2T>C (n.2448+2T>C)
c.2313+2T>C (n.2313+2T>C)
n.2609+2T>C
2g.71561946T>GCA347210176DYSFc.2355+2T>G (n.2355+2T>G)
c.2409+2T>G (n.2409+2T>G)
c.2358+2T>G (n.2358+2T>G)
c.2406+2T>G (n.2406+2T>G)
c.2451+2T>G (n.2451+2T>G)
c.2316+2T>G (n.2316+2T>G)
c.2448+2T>G (n.2448+2T>G)
c.2313+2T>G (n.2313+2T>G)
n.2609+2T>G
 dbSNP gnomAD v4
2g.71561946T=CA1260098988DYSFc.2355+2T= (n.2355+2T=)
c.2409+2T= (n.2409+2T=)
c.2358+2T= (n.2358+2T=)
c.2406+2T= (n.2406+2T=)
c.2451+2T= (n.2451+2T=)
c.2316+2T= (n.2316+2T=)
c.2448+2T= (n.2448+2T=)
c.2313+2T= (n.2313+2T=)
n.2609+2T=
2g.71561947A=CA1260098990DYSFc.2355+3A= (n.2355+3A=)
c.2409+3A= (n.2409+3A=)
c.2358+3A= (n.2358+3A=)
c.2406+3A= (n.2406+3A=)
c.2451+3A= (n.2451+3A=)
c.2316+3A= (n.2316+3A=)
c.2448+3A= (n.2448+3A=)
c.2313+3A= (n.2313+3A=)
n.2609+3A=
2g.71561947A>CCA892694571DYSFc.2355+3A>C (n.2355+3A>C)
c.2409+3A>C (n.2409+3A>C)
c.2358+3A>C (n.2358+3A>C)
c.2406+3A>C (n.2406+3A>C)
c.2451+3A>C (n.2451+3A>C)
c.2316+3A>C (n.2316+3A>C)
c.2448+3A>C (n.2448+3A>C)
c.2313+3A>C (n.2313+3A>C)
n.2609+3A>C
 dbSNP gnomAD v3 gnomAD v4
2g.71561947A>GCA1260098991DYSFc.2355+3A>G (n.2355+3A>G)
c.2409+3A>G (n.2409+3A>G)
c.2358+3A>G (n.2358+3A>G)
c.2406+3A>G (n.2406+3A>G)
c.2451+3A>G (n.2451+3A>G)
c.2316+3A>G (n.2316+3A>G)
c.2448+3A>G (n.2448+3A>G)
c.2313+3A>G (n.2313+3A>G)
n.2609+3A>G
 dbSNP
2g.71561948dupCA2659548132DYSFc.2355+4dup (n.2355+4dup)
c.2409+4dup (n.2409+4dup)
c.2358+4dup (n.2358+4dup)
c.2406+4dup (n.2406+4dup)
c.2451+4dup (n.2451+4dup)
c.2316+4dup (n.2316+4dup)
c.2448+4dup (n.2448+4dup)
c.2313+4dup (n.2313+4dup)
n.2609+4dup
 gnomAD v4
2g.71561948A>GCA2659548134DYSFc.2355+4A>G (n.2355+4A>G)
c.2409+4A>G (n.2409+4A>G)
c.2358+4A>G (n.2358+4A>G)
c.2406+4A>G (n.2406+4A>G)
c.2451+4A>G (n.2451+4A>G)
c.2316+4A>G (n.2316+4A>G)
c.2448+4A>G (n.2448+4A>G)
c.2313+4A>G (n.2313+4A>G)
n.2609+4A>G
 gnomAD v4

Number of alleles fetched