OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71561864_71561889delinsAAGCTCGGCCACAGTGAGCTCCCTGC | CA1260098791 | DYSF | c.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 | |
| 2 | g.71561870_71561894del | CA1706122 | DYSF | c.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 |
| 2 | g.71561869C>A | CA426701599 | DYSF | c.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 | |
| 2 | g.71561869C= | CA1260098805 | DYSF | c.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= | |
| 2 | g.71561869C>G | CA426701598 | DYSF | c.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 |
| 2 | g.71561869C>T | CA179985 | DYSF | c.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 |
| 2 | g.71561870G>A | CA242326 | DYSF | c.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 |
| 2 | g.71561870G>C | CA347209624 | DYSF | c.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 | |
| 2 | g.71561870G= | CA1260098818 | DYSF | c.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= | |
| 2 | g.71561870G>T | CA347209629 | DYSF | c.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 |
| 2 | g.71561871G>A | CA347209635 | DYSF | c.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 |
| 2 | g.71561871G>C | CA347209644 | DYSF | c.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 | |
| 2 | g.71561871G= | CA1260098827 | DYSF | c.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= | |
| 2 | g.71561871G>T | CA347209639 | DYSF | c.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 |
| 2 | g.71561872C>A | CA426701600 | DYSF | c.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 | |
| 2 | g.71561872C= | CA1260098829 | DYSF | c.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= | |
| 2 | g.71561872C>G | CA426701602 | DYSF | c.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 | |
| 2 | g.71561872C>T | CA426701601 | DYSF | c.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 |
| 2 | g.71561873C>A | CA347209649 | DYSF | c.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 | |
| 2 | g.71561873C>G | CA347209655 | DYSF | c.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 | |
| 2 | g.71561873C>T | CA347209661 | DYSF | c.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 |
| 2 | g.71561874A>C | CA347209667 | DYSF | c.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 | |
| 2 | g.71561874A>G | CA347209672 | DYSF | c.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 |
| 2 | g.71561874A>T | CA347209673 | DYSF | c.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 |
| 2 | g.71561875C>A | CA347209681 | DYSF | c.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 | |
| 2 | g.71561875C>G | CA347209682 | DYSF | c.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 | |
| 2 | g.71561875C>T | CA426701603 | DYSF | c.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 | |
| 2 | g.71561876A= | CA1260098833 | DYSF | c.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= | |
| 2 | g.71561876A>C | CA347209686 | DYSF | c.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 | |
| 2 | g.71561876A>G | CA347209687 | DYSF | c.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 |
| 2 | g.71561876A>T | CA347209688 | DYSF | c.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 | |
| 2 | g.71561878_71561881del | CA2580067852 | DYSF | c.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 |
| 2 | g.71561877G>A | CA347209694 | DYSF | c.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 |
| 2 | g.71561877G>C | CA347209697 | DYSF | c.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 | |
| 2 | g.71561877G>T | CA347209691 | DYSF | c.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 | |
| 2 | g.71561878T>A | CA347209701 | DYSF | c.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 | |
| 2 | g.71561878T>C | CA426701604 | DYSF | c.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 | |
| 2 | g.71561878T>G | CA347209700 | DYSF | c.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 | |
| 2 | g.71561879G>A | CA347209703 | DYSF | c.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 |
| 2 | g.71561879G>C | CA347209706 | DYSF | c.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 | |
| 2 | g.71561879G= | CA1260098841 | DYSF | c.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= | |
| 2 | g.71561879G>T | CA10606093 | DYSF | c.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 |
| 2 | g.71561880A>C | CA347209710 | DYSF | c.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 | |
| 2 | g.71561880A>G | CA347209715 | DYSF | c.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 |
| 2 | g.71561880A>T | CA347209718 | DYSF | c.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 | |
| 2 | g.71561881G>A | CA426701605 | DYSF | c.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 |
| 2 | g.71561881G>C | CA347209724 | DYSF | c.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 | |
| 2 | g.71561881G>T | CA347209728 | DYSF | c.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 | |
| 2 | g.71561882C>A | CA347209734 | DYSF | c.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 | |
| 2 | g.71561882C= | CA1260098844 | DYSF | c.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= | |
| 2 | g.71561882C>G | CA347209736 | DYSF | c.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 | |
| 2 | g.71561882C>T | CA347209742 | DYSF | c.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 |
| 2 | g.71561883T>A | CA347209760 | DYSF | c.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 | |
| 2 | g.71561883T>C | CA347209748 | DYSF | c.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 | |
| 2 | g.71561883T>G | CA347209751 | DYSF | c.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 | |
| 2 | g.71561884C>A | CA426701606 | DYSF | c.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 |
| 2 | g.71561884C= | CA1260098846 | DYSF | c.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= | |
| 2 | g.71561884C>G | CA426701607 | DYSF | c.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 |
| 2 | g.71561884C>T | CA426701608 | DYSF | c.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 |
| 2 | g.71561886del | CA2580067853 | DYSF | c.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 |
| 2 | g.71561885C>A | CA347209764 | DYSF | c.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 | |
| 2 | g.71561885C= | CA1260098849 | DYSF | c.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= | |
| 2 | g.71561885C>G | CA347209768 | DYSF | c.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 |
| 2 | g.71561885C>T | CA347209769 | DYSF | c.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 |
| 2 | g.71561885_71561886insTGCAGCTCTGGAG | CA533655685 | DYSF | c.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 |
| 2 | g.71561886C>A | CA347209772 | DYSF | c.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 | |
| 2 | g.71561886C= | CA1260098851 | DYSF | c.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= | |
| 2 | g.71561886C>G | CA347209774 | DYSF | c.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 | |
| 2 | g.71561886C>T | CA1706124 | DYSF | c.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 |
| 2 | g.71561887T>A | CA426701609 | DYSF | c.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 | |
| 2 | g.71561887T>C | CA426701611 | DYSF | c.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 |
| 2 | g.71561887T>G | CA426701610 | DYSF | c.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 | |
| 2 | g.71561887T= | CA1260098852 | DYSF | c.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= | |
| 2 | g.71561888G>A | CA347209784 | DYSF | c.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 |
| 2 | g.71561888G>C | CA347209787 | DYSF | c.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 | |
| 2 | g.71561888G>T | CA347209790 | DYSF | c.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 | |
| 2 | g.71561889C>A | CA347209796 | DYSF | c.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 | |
| 2 | g.71561889C>G | CA347209797 | DYSF | c.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 | |
| 2 | g.71561889C>T | CA347209800 | DYSF | c.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 | |
| 2 | g.71561890A>C | CA426701612 | DYSF | c.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 | |
| 2 | g.71561890A>G | CA426701614 | DYSF | c.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 | |
| 2 | g.71561890A>T | CA426701613 | DYSF | c.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 | |
| 2 | g.71561891G>A | CA347209807 | DYSF | c.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 | |
| 2 | g.71561891G>C | CA347209810 | DYSF | c.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 | |
| 2 | g.71561891G>T | CA347209803 | DYSF | c.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 | |
| 2 | g.71561892C>A | CA347209812 | DYSF | c.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 |
| 2 | g.71561892C>G | CA347209813 | DYSF | c.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 | |
| 2 | g.71561892C>T | CA347209814 | DYSF | c.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 | |
| 2 | g.71561893T>A | CA426701615 | DYSF | c.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 | |
| 2 | g.71561893T>C | CA426701616 | DYSF | c.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 |
| 2 | g.71561893T>G | CA426701617 | DYSF | c.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 |
| 2 | g.71561893T= | CA1260098854 | DYSF | c.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= | |
| 2 | g.71561894C>A | CA347209815 | DYSF | c.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 | |
| 2 | g.71561894C>G | CA347209816 | DYSF | c.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 | |
| 2 | g.71561894C>T | CA426701618 | DYSF | c.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 | |
| 2 | g.71561895T>A | CA347209818 | DYSF | c.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 | |
| 2 | g.71561895T>C | CA347209820 | DYSF | c.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 |
| 2 | g.71561895T>G | CA347209821 | DYSF | c.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 | |
| 2 | g.71561896G>A | CA426701619 | DYSF | c.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 |
| 2 | g.71561896G>C | CA426701621 | DYSF | c.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 | |
| 2 | g.71561896G= | CA1260098856 | DYSF | c.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= | |
| 2 | g.71561896G>T | CA426701620 | DYSF | c.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 | |
| 2 | g.71561900_71561944del | CA2697548238 | DYSF | c.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 |
| 2 | g.71561897G>A | CA347209826 | DYSF | c.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 |
| 2 | g.71561897G>C | CA1706125 | DYSF | c.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 |
| 2 | g.71561897G= | CA1260098860 | DYSF | c.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= | |
| 2 | g.71561897G>T | CA347209829 | DYSF | c.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 | |
| 2 | g.71561898A>C | CA347209833 | DYSF | c.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 | |
| 2 | g.71561898A>G | CA347209835 | DYSF | c.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 | |
| 2 | g.71561898A>T | CA347209836 | DYSF | c.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 | |
| 2 | g.71561899G>A | CA426701622 | DYSF | c.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 | |
| 2 | g.71561899G>C | CA347209838 | DYSF | c.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 | |
| 2 | g.71561899G>T | CA347209841 | DYSF | c.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 | |
| 2 | g.71561900C>A | CA347209849 | DYSF | c.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 | |
| 2 | g.71561900C= | CA1260098864 | DYSF | c.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= | |
| 2 | g.71561900C>G | CA347209851 | DYSF | c.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 | |
| 2 | g.71561900C>T | CA222137 | DYSF | c.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 |
| 2 | g.71561901A>C | CA347209854 | DYSF | c.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 | |
| 2 | g.71561901A>G | CA347209855 | DYSF | c.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 | |
| 2 | g.71561901A>T | CA347209857 | DYSF | c.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 | |
| 2 | g.71561902G>A | CA426701623 | DYSF | c.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 |
| 2 | g.71561902G>C | CA347209859 | DYSF | c.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 | |
| 2 | g.71561902G>T | CA347209860 | DYSF | c.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 | |
| 2 | g.71561903G>A | CA347209861 | DYSF | c.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 |
| 2 | g.71561903G>C | CA347209862 | DYSF | c.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 | |
| 2 | g.71561903G= | CA1260098869 | DYSF | c.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= | |
| 2 | g.71561903G>T | CA347209864 | DYSF | c.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 | |
| 2 | g.71561904C>A | CA1706127 | DYSF | c.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 |
| 2 | g.71561904C= | CA1260098872 | DYSF | c.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= | |
| 2 | g.71561904C>G | CA347209871 | DYSF | c.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 | |
| 2 | g.71561904C>T | CA1706126 | DYSF | c.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 |
| 2 | g.71561904_71561905delinsCG | CA1260098874 | DYSF | c.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 | |
| 2 | g.71561905G>A | CA10606035 | DYSF | c.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 |
| 2 | g.71561905G>C | CA426701624 | DYSF | c.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 | |
| 2 | g.71561905G= | CA1260098880 | DYSF | c.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= | |
| 2 | g.71561905G>T | CA426701625 | DYSF | c.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 | |
| 2 | g.71561906del | CA913190079 | DYSF | c.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 |
| 2 | g.71561906G>A | CA347209877 | DYSF | c.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 |
| 2 | g.71561906G>C | CA347209876 | DYSF | c.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 | |
| 2 | g.71561906G>T | CA347209879 | DYSF | c.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 | |
| 2 | g.71561907A>C | CA347209881 | DYSF | c.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 | |
| 2 | g.71561907A>G | CA347209886 | DYSF | c.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 | |
| 2 | g.71561907A>T | CA347209883 | DYSF | c.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 | |
| 2 | g.71561908G>A | CA426701626 | DYSF | c.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 |
| 2 | g.71561908G>C | CA347209887 | DYSF | c.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 | |
| 2 | g.71561908G>T | CA347209888 | DYSF | c.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 | |
| 2 | g.71561909G>A | CA347209892 | DYSF | c.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 |
| 2 | g.71561909G>C | CA347209894 | DYSF | c.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 | |
| 2 | g.71561909G>T | CA347209897 | DYSF | c.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 | |
| 2 | g.71561910A= | CA1260098887 | DYSF | c.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= | |
| 2 | g.71561910A>C | CA1706128 | DYSF | c.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 |
| 2 | g.71561910A>G | CA347209898 | DYSF | c.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 | |
| 2 | g.71561910A>T | CA347209902 | DYSF | c.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 | |
| 2 | g.71561911C>A | CA347209904 | DYSF | c.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 | |
| 2 | g.71561911C>G | CA347209907 | DYSF | c.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 | |
| 2 | g.71561911C>T | CA426701627 | DYSF | c.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 |
| 2 | g.71561912T>A | CA347209909 | DYSF | c.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 | |
| 2 | g.71561912T>C | CA1706129 | DYSF | c.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 |
| 2 | g.71561912T>G | CA347209912 | DYSF | c.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 | |
| 2 | g.71561912T= | CA1260098894 | DYSF | c.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= | |
| 2 | g.71561913G>A | CA347209914 | DYSF | c.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 |
| 2 | g.71561913G>C | CA347209919 | DYSF | c.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 | |
| 2 | g.71561913G= | CA1260098901 | DYSF | c.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= | |
| 2 | g.71561913G>T | CA347209918 | DYSF | c.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 | |
| 2 | g.71561914G>A | CA347209922 | DYSF | c.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 | |
| 2 | g.71561914G>C | CA347209924 | DYSF | c.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 |
| 2 | g.71561914G= | CA1260098924 | DYSF | c.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= | |
| 2 | g.71561914G>T | CA347209930 | DYSF | c.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 | |
| 2 | g.71561915C>A | CA347209933 | DYSF | c.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 | |
| 2 | g.71561915C>G | CA347209942 | DYSF | c.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 | |
| 2 | g.71561915C>T | CA347209946 | DYSF | c.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 | |
| 2 | g.71561916T>A | CA347209951 | DYSF | c.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 | |
| 2 | g.71561916T>C | CA347209953 | DYSF | c.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 |
| 2 | g.71561916T>G | CA347209954 | DYSF | c.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 | |
| 2 | g.71561917C>A | CA426701628 | DYSF | c.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 | |
| 2 | g.71561917C= | CA1260098926 | DYSF | c.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= | |
| 2 | g.71561917C>G | CA426701629 | DYSF | c.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 |
| 2 | g.71561917C>T | CA1706131 | DYSF | c.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 |
| 2 | g.71561917_71561923delinsCCTGCGT | CA1260098928 | DYSF | c.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 | |
| 2 | g.71561918C>A | CA347209961 | DYSF | c.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 | |
| 2 | g.71561918C>G | CA347209959 | DYSF | c.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 | |
| 2 | g.71561918C>T | CA426701630 | DYSF | c.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 |
| 2 | g.71561924_71561929del | CA1706130 | DYSF | c.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 |
| 2 | g.71561919T>A | CA347209965 | DYSF | c.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 | |
| 2 | g.71561919T>C | CA347209967 | DYSF | c.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 | |
| 2 | g.71561919T>G | CA347209968 | DYSF | c.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 | |
| 2 | g.71561920G>A | CA426701632 | DYSF | c.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 | |
| 2 | g.71561920G>C | CA426701631 | DYSF | c.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 | |
| 2 | g.71561920G= | CA1260098933 | DYSF | c.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= | |
| 2 | g.71561920G>T | CA1706132 | DYSF | c.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 |
| 2 | g.71561921C>A | CA347209971 | DYSF | c.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 |
| 2 | g.71561921C= | CA1260098938 | DYSF | c.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= | |
| 2 | g.71561921C>G | CA347209974 | DYSF | c.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 | |
| 2 | g.71561921C>T | CA242324 | DYSF | c.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 |
| 2 | g.71561922G>A | CA1706133 | DYSF | c.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 |
| 2 | g.71561922G>C | CA347209981 | DYSF | c.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 | |
| 2 | g.71561922G= | CA1260098945 | DYSF | c.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= | |
| 2 | g.71561922G>T | CA347209984 | DYSF | c.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 |
| 2 | g.71561923T>A | CA426701633 | DYSF | c.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 | |
| 2 | g.71561923T>C | CA426701634 | DYSF | c.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 |
| 2 | g.71561923T>G | CA426701635 | DYSF | c.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 | |
| 2 | g.71561924C>A | CA347209985 | DYSF | c.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 | |
| 2 | g.71561924C>G | CA347209986 | DYSF | c.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 | |
| 2 | g.71561924C>T | CA426701636 | DYSF | c.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 | |
| 2 | g.71561925T>A | CA347209990 | DYSF | c.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 |
| 2 | g.71561925T>C | CA347209989 | DYSF | c.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 | |
| 2 | g.71561925T>G | CA347209988 | DYSF | c.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 | |
| 2 | g.71561926G>A | CA426701637 | DYSF | c.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 | |
| 2 | g.71561926G>C | CA426701638 | DYSF | c.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 | |
| 2 | g.71561926G>T | CA426701639 | DYSF | c.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 | |
| 2 | g.71561927C>A | CA347209992 | DYSF | c.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 | |
| 2 | g.71561927C= | CA1260098950 | DYSF | c.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= | |
| 2 | g.71561927C>G | CA347209993 | DYSF | c.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 | |
| 2 | g.71561927C>T | CA1706134 | DYSF | c.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 |
| 2 | g.71561928G>A | CA1706135 | DYSF | c.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 |
| 2 | g.71561928G>C | CA347209997 | DYSF | c.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 | |
| 2 | g.71561928G= | CA1260098951 | DYSF | c.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= | |
| 2 | g.71561928G>T | CA347210004 | DYSF | c.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 | |
| 2 | g.71561929T>A | CA426701640 | DYSF | c.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 | |
| 2 | g.71561929T>C | CA426701641 | DYSF | c.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 | |
| 2 | g.71561929T>G | CA426701642 | DYSF | c.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 | |
| 2 | g.71561930G>A | CA1706136 | DYSF | c.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 |
| 2 | g.71561930G>C | CA347210010 | DYSF | c.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 | |
| 2 | g.71561930G= | CA1260098952 | DYSF | c.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= | |
| 2 | g.71561930G>T | CA347210011 | DYSF | c.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 |
| 2 | g.71561931C>A | CA347210016 | DYSF | c.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 | |
| 2 | g.71561931C>G | CA347210035 | DYSF | c.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 | |
| 2 | g.71561931C>T | CA347210038 | DYSF | c.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 | |
| 2 | g.71561933del | CA2739271026 | DYSF | c.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 |
| 2 | g.71561932C>A | CA1706137 | DYSF | c.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 |
| 2 | g.71561932C= | CA1260098953 | DYSF | c.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= | |
| 2 | g.71561932C>G | CA426701644 | DYSF | c.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 |
| 2 | g.71561932C>T | CA426701643 | DYSF | c.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 | |
| 2 | g.71561933C>A | CA347210052 | DYSF | c.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 | |
| 2 | g.71561933C>G | CA347210053 | DYSF | c.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 | |
| 2 | g.71561933C>T | CA426701645 | DYSF | c.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 |
| 2 | g.71561934T>A | CA347210055 | DYSF | c.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 | |
| 2 | g.71561934T>C | CA347210056 | DYSF | c.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 |
| 2 | g.71561934T>G | CA347210058 | DYSF | c.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 | |
| 2 | g.71561935G>A | CA1706138 | DYSF | c.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 |
| 2 | g.71561935G>C | CA426701646 | DYSF | c.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 | |
| 2 | g.71561935G= | CA1260098959 | DYSF | c.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= | |
| 2 | g.71561935G>T | CA426701647 | DYSF | c.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 | |
| 2 | g.71561936G>A | CA347210072 | DYSF | c.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 |
| 2 | g.71561936G>C | CA347210077 | DYSF | c.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 | |
| 2 | g.71561936G= | CA1260098962 | DYSF | c.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= | |
| 2 | g.71561936G>T | CA347210080 | DYSF | c.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 | |
| 2 | g.71561937C>A | CA347210085 | DYSF | c.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 | |
| 2 | g.71561937C= | CA1260098965 | DYSF | c.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= | |
| 2 | g.71561937C>G | CA347210087 | DYSF | c.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 | |
| 2 | g.71561937C>T | CA1706139 | DYSF | c.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 |
| 2 | g.71561938A>C | CA426701648 | DYSF | c.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 | |
| 2 | g.71561938A>G | CA426701649 | DYSF | c.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 | |
| 2 | g.71561938A>T | CA426701650 | DYSF | c.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 | |
| 2 | g.71561939G>A | CA347210091 | DYSF | c.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 |
| 2 | g.71561939G>C | CA347210093 | DYSF | c.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 | |
| 2 | g.71561939G= | CA1260098969 | DYSF | c.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= | |
| 2 | g.71561939G>T | CA347210095 | DYSF | c.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 | |
| 2 | g.71561940A>C | CA347210103 | DYSF | c.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 | |
| 2 | g.71561940A>G | CA347210101 | DYSF | c.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 | |
| 2 | g.71561940A>T | CA347210099 | DYSF | c.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 | |
| 2 | g.71561940_71561945delinsAGGAGG | CA1260098971 | DYSF | c.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 | |
| 2 | g.71561941G>A | CA426701651 | DYSF | c.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 |
| 2 | g.71561941G>C | CA347210114 | DYSF | c.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 | |
| 2 | g.71561941G>T | CA347210117 | DYSF | c.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 |
| 2 | g.71561941_71561945del | CA49740952 | DYSF | c.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 |
| 2 | g.71561942G>A | CA347210122 | DYSF | c.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 | |
| 2 | g.71561942G>C | CA347210126 | DYSF | c.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 | |
| 2 | g.71561942G>T | CA347210140 | DYSF | c.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 | |
| 2 | g.71561943A>C | CA347210143 | DYSF | c.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 | |
| 2 | g.71561943A>G | CA347210146 | DYSF | c.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 | |
| 2 | g.71561943A>T | CA347210153 | DYSF | c.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 | |
| 2 | g.71561944G>A | CA426701652 | DYSF | c.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 | |
| 2 | g.71561944G>C | CA347210156 | DYSF | c.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 | |
| 2 | g.71561944G= | CA1260098978 | DYSF | c.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= | |
| 2 | g.71561944G>T | CA347210159 | DYSF | c.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 |
| 2 | g.71561945G>A | CA10604289 | DYSF | c.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 |
| 2 | g.71561945G>C | CA347210174 | DYSF | c.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 | |
| 2 | g.71561945G= | CA1260098985 | DYSF | c.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= | |
| 2 | g.71561945G>T | CA347210175 | DYSF | c.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 |
| 2 | g.71561946T>A | CA1706140 | DYSF | c.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 |
| 2 | g.71561946T>C | CA347210179 | DYSF | c.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 | |
| 2 | g.71561946T>G | CA347210176 | DYSF | c.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 |
| 2 | g.71561946T= | CA1260098988 | DYSF | c.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= | |
| 2 | g.71561947A= | CA1260098990 | DYSF | c.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= | |
| 2 | g.71561947A>C | CA892694571 | DYSF | c.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 |
| 2 | g.71561947A>G | CA1260098991 | DYSF | c.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 |
| 2 | g.71561948dup | CA2659548132 | DYSF | c.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 |
| 2 | g.71561948A>G | CA2659548134 | DYSF | c.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 |
| 2 | g.71561949T>A | CA2659548135 | DYSF | c.2355+5T>A (n.2355+5T>A) c.2409+5T>A (n.2409+5T>A) c.2358+5T>A (n.2358+5T>A) c.2406+5T>A (n.2406+5T>A) c.2451+5T>A (n.2451+5T>A) c.2316+5T>A (n.2316+5T>A) c.2448+5T>A (n.2448+5T>A) c.2313+5T>A (n.2313+5T>A) n.2609+5T>A | gnomAD v4 |
| 2 | g.71561954C>T | CA2499216204 | DYSF | c.2355+10C>T (n.2355+10C>T) c.2409+10C>T (n.2409+10C>T) c.2358+10C>T (n.2358+10C>T) c.2406+10C>T (n.2406+10C>T) c.2451+10C>T (n.2451+10C>T) c.2316+10C>T (n.2316+10C>T) c.2448+10C>T (n.2448+10C>T) c.2313+10C>T (n.2313+10C>T) n.2609+10C>T | ClinVar dbSNP gnomAD v4 |
| 2 | g.71561955C>A | CA2528595408 | DYSF | c.2355+11C>A (n.2355+11C>A) c.2409+11C>A (n.2409+11C>A) c.2358+11C>A (n.2358+11C>A) c.2406+11C>A (n.2406+11C>A) c.2451+11C>A (n.2451+11C>A) c.2316+11C>A (n.2316+11C>A) c.2448+11C>A (n.2448+11C>A) c.2313+11C>A (n.2313+11C>A) n.2609+11C>A | |
| 2 | g.71561955C= | CA1260098994 | DYSF | c.2355+11C= (n.2355+11C=) c.2409+11C= (n.2409+11C=) c.2358+11C= (n.2358+11C=) c.2406+11C= (n.2406+11C=) c.2451+11C= (n.2451+11C=) c.2316+11C= (n.2316+11C=) c.2448+11C= (n.2448+11C=) c.2313+11C= (n.2313+11C=) n.2609+11C= | |
| 2 | g.71561955C>T | CA426701653 | DYSF | c.2355+11C>T (n.2355+11C>T) c.2409+11C>T (n.2409+11C>T) c.2358+11C>T (n.2358+11C>T) c.2406+11C>T (n.2406+11C>T) c.2451+11C>T (n.2451+11C>T) c.2316+11C>T (n.2316+11C>T) c.2448+11C>T (n.2448+11C>T) c.2313+11C>T (n.2313+11C>T) n.2609+11C>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71561956T>C | CA2659548139 | DYSF | c.2355+12T>C (n.2355+12T>C) c.2409+12T>C (n.2409+12T>C) c.2358+12T>C (n.2358+12T>C) c.2406+12T>C (n.2406+12T>C) c.2451+12T>C (n.2451+12T>C) c.2316+12T>C (n.2316+12T>C) c.2448+12T>C (n.2448+12T>C) c.2313+12T>C (n.2313+12T>C) n.2609+12T>C | gnomAD v4 |
| 2 | g.71561956T>G | CA1260098995 | DYSF | c.2355+12T>G (n.2355+12T>G) c.2409+12T>G (n.2409+12T>G) c.2358+12T>G (n.2358+12T>G) c.2406+12T>G (n.2406+12T>G) c.2451+12T>G (n.2451+12T>G) c.2316+12T>G (n.2316+12T>G) c.2448+12T>G (n.2448+12T>G) c.2313+12T>G (n.2313+12T>G) n.2609+12T>G | dbSNP |
| 2 | g.71561956T= | CA1260098996 | DYSF | c.2355+12T= (n.2355+12T=) c.2409+12T= (n.2409+12T=) c.2358+12T= (n.2358+12T=) c.2406+12T= (n.2406+12T=) c.2451+12T= (n.2451+12T=) c.2316+12T= (n.2316+12T=) c.2448+12T= (n.2448+12T=) c.2313+12T= (n.2313+12T=) n.2609+12T= | |
| 2 | g.71561957G>C | CA2573135716 | DYSF | c.2355+13G>C (n.2355+13G>C) c.2409+13G>C (n.2409+13G>C) c.2358+13G>C (n.2358+13G>C) c.2406+13G>C (n.2406+13G>C) c.2451+13G>C (n.2451+13G>C) c.2316+13G>C (n.2316+13G>C) c.2448+13G>C (n.2448+13G>C) c.2313+13G>C (n.2313+13G>C) n.2609+13G>C | ClinVar dbSNP |
| 2 | g.71561957G>T | CA2659548141 | DYSF | c.2355+13G>T (n.2355+13G>T) c.2409+13G>T (n.2409+13G>T) c.2358+13G>T (n.2358+13G>T) c.2406+13G>T (n.2406+13G>T) c.2451+13G>T (n.2451+13G>T) c.2316+13G>T (n.2316+13G>T) c.2448+13G>T (n.2448+13G>T) c.2313+13G>T (n.2313+13G>T) n.2609+13G>T | gnomAD v4 |
| 2 | g.71561958G>A | CA1706141 | DYSF | c.2355+14G>A (n.2355+14G>A) c.2409+14G>A (n.2409+14G>A) c.2358+14G>A (n.2358+14G>A) c.2406+14G>A (n.2406+14G>A) c.2451+14G>A (n.2451+14G>A) c.2316+14G>A (n.2316+14G>A) c.2448+14G>A (n.2448+14G>A) c.2313+14G>A (n.2313+14G>A) n.2609+14G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71561958G= | CA1260098999 | DYSF | c.2355+14G= (n.2355+14G=) c.2409+14G= (n.2409+14G=) c.2358+14G= (n.2358+14G=) c.2406+14G= (n.2406+14G=) c.2451+14G= (n.2451+14G=) c.2316+14G= (n.2316+14G=) c.2448+14G= (n.2448+14G=) c.2313+14G= (n.2313+14G=) n.2609+14G= | |
| 2 | g.71561960G>A | CA1260099003 | DYSF | c.2355+16G>A (n.2355+16G>A) c.2409+16G>A (n.2409+16G>A) c.2358+16G>A (n.2358+16G>A) c.2406+16G>A (n.2406+16G>A) c.2451+16G>A (n.2451+16G>A) c.2316+16G>A (n.2316+16G>A) c.2448+16G>A (n.2448+16G>A) c.2313+16G>A (n.2313+16G>A) n.2609+16G>A | dbSNP gnomAD v4 |
| 2 | g.71561960G= | CA1260099002 | DYSF | c.2355+16G= (n.2355+16G=) c.2409+16G= (n.2409+16G=) c.2358+16G= (n.2358+16G=) c.2406+16G= (n.2406+16G=) c.2451+16G= (n.2451+16G=) c.2316+16G= (n.2316+16G=) c.2448+16G= (n.2448+16G=) c.2313+16G= (n.2313+16G=) n.2609+16G= | |
| 2 | g.71561960G>T | CA1706142 | DYSF | c.2355+16G>T (n.2355+16G>T) c.2409+16G>T (n.2409+16G>T) c.2358+16G>T (n.2358+16G>T) c.2406+16G>T (n.2406+16G>T) c.2451+16G>T (n.2451+16G>T) c.2316+16G>T (n.2316+16G>T) c.2448+16G>T (n.2448+16G>T) c.2313+16G>T (n.2313+16G>T) n.2609+16G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71561961G>A | CA49740985 | DYSF | c.2355+17G>A (n.2355+17G>A) c.2409+17G>A (n.2409+17G>A) c.2358+17G>A (n.2358+17G>A) c.2406+17G>A (n.2406+17G>A) c.2451+17G>A (n.2451+17G>A) c.2316+17G>A (n.2316+17G>A) c.2448+17G>A (n.2448+17G>A) c.2313+17G>A (n.2313+17G>A) n.2609+17G>A | dbSNP gnomAD v4 |
| 2 | g.71561961G= | CA1260099006 | DYSF | c.2355+17G= (n.2355+17G=) c.2409+17G= (n.2409+17G=) c.2358+17G= (n.2358+17G=) c.2406+17G= (n.2406+17G=) c.2451+17G= (n.2451+17G=) c.2316+17G= (n.2316+17G=) c.2448+17G= (n.2448+17G=) c.2313+17G= (n.2313+17G=) n.2609+17G= | |
| 2 | g.71561961G>T | CA1706143 | DYSF | c.2355+17G>T (n.2355+17G>T) c.2409+17G>T (n.2409+17G>T) c.2358+17G>T (n.2358+17G>T) c.2406+17G>T (n.2406+17G>T) c.2451+17G>T (n.2451+17G>T) c.2316+17G>T (n.2316+17G>T) c.2448+17G>T (n.2448+17G>T) c.2313+17G>T (n.2313+17G>T) n.2609+17G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.71561962T>C | CA49741010 | DYSF | c.2355+18T>C (n.2355+18T>C) c.2409+18T>C (n.2409+18T>C) c.2358+18T>C (n.2358+18T>C) c.2406+18T>C (n.2406+18T>C) c.2451+18T>C (n.2451+18T>C) c.2316+18T>C (n.2316+18T>C) c.2448+18T>C (n.2448+18T>C) c.2313+18T>C (n.2313+18T>C) n.2609+18T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71561962T>G | CA1260099009 | DYSF | c.2355+18T>G (n.2355+18T>G) c.2409+18T>G (n.2409+18T>G) c.2358+18T>G (n.2358+18T>G) c.2406+18T>G (n.2406+18T>G) c.2451+18T>G (n.2451+18T>G) c.2316+18T>G (n.2316+18T>G) c.2448+18T>G (n.2448+18T>G) c.2313+18T>G (n.2313+18T>G) n.2609+18T>G | dbSNP |
| 2 | g.71561962T= | CA1260099011 | DYSF | c.2355+18T= (n.2355+18T=) c.2409+18T= (n.2409+18T=) c.2358+18T= (n.2358+18T=) c.2406+18T= (n.2406+18T=) c.2451+18T= (n.2451+18T=) c.2316+18T= (n.2316+18T=) c.2448+18T= (n.2448+18T=) c.2313+18T= (n.2313+18T=) n.2609+18T= | |
| 2 | g.71561963G>A | CA2659548145 | DYSF | c.2355+19G>A (n.2355+19G>A) c.2409+19G>A (n.2409+19G>A) c.2358+19G>A (n.2358+19G>A) c.2406+19G>A (n.2406+19G>A) c.2451+19G>A (n.2451+19G>A) c.2316+19G>A (n.2316+19G>A) c.2448+19G>A (n.2448+19G>A) c.2313+19G>A (n.2313+19G>A) n.2609+19G>A | gnomAD v4 |
| 2 | g.71561963G= | CA1260099012 | DYSF | c.2355+19G= (n.2355+19G=) c.2409+19G= (n.2409+19G=) c.2358+19G= (n.2358+19G=) c.2406+19G= (n.2406+19G=) c.2451+19G= (n.2451+19G=) c.2316+19G= (n.2316+19G=) c.2448+19G= (n.2448+19G=) c.2313+19G= (n.2313+19G=) n.2609+19G= | |
| 2 | g.71561963G>T | CA533655703 | DYSF | c.2355+19G>T (n.2355+19G>T) c.2409+19G>T (n.2409+19G>T) c.2358+19G>T (n.2358+19G>T) c.2406+19G>T (n.2406+19G>T) c.2451+19G>T (n.2451+19G>T) c.2316+19G>T (n.2316+19G>T) c.2448+19G>T (n.2448+19G>T) c.2313+19G>T (n.2313+19G>T) n.2609+19G>T | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.71561965C= | CA1260099014 | DYSF | c.2355+21C= (n.2355+21C=) c.2409+21C= (n.2409+21C=) c.2358+21C= (n.2358+21C=) c.2406+21C= (n.2406+21C=) c.2451+21C= (n.2451+21C=) c.2316+21C= (n.2316+21C=) c.2448+21C= (n.2448+21C=) c.2313+21C= (n.2313+21C=) n.2609+21C= | |
| 2 | g.71561965C>G | CA1706144 | DYSF | c.2355+21C>G (n.2355+21C>G) c.2409+21C>G (n.2409+21C>G) c.2358+21C>G (n.2358+21C>G) c.2406+21C>G (n.2406+21C>G) c.2451+21C>G (n.2451+21C>G) c.2316+21C>G (n.2316+21C>G) c.2448+21C>G (n.2448+21C>G) c.2313+21C>G (n.2313+21C>G) n.2609+21C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71561966_71561969delinsTTTC | CA1260099016 | DYSF | c.2355+22_2355+25delinsTTTC (n.2355+22_2355+25delinsTTTC) c.2409+22_2409+25delinsTTTC (n.2409+22_2409+25delinsTTTC) c.2358+22_2358+25delinsTTTC (n.2358+22_2358+25delinsTTTC) c.2406+22_2406+25delinsTTTC (n.2406+22_2406+25delinsTTTC) c.2451+22_2451+25delinsTTTC (n.2451+22_2451+25delinsTTTC) c.2316+22_2316+25delinsTTTC (n.2316+22_2316+25delinsTTTC) c.2448+22_2448+25delinsTTTC (n.2448+22_2448+25delinsTTTC) c.2313+22_2313+25delinsTTTC (n.2313+22_2313+25delinsTTTC) n.2609+22_2609+25delinsTTTC | |
| 2 | g.71561974_71561976del | CA1706145 | DYSF | c.2355+30_2355+32del (n.2355+30_2355+32del) c.2409+30_2409+32del (n.2409+30_2409+32del) c.2358+30_2358+32del (n.2358+30_2358+32del) c.2406+30_2406+32del (n.2406+30_2406+32del) c.2451+30_2451+32del (n.2451+30_2451+32del) c.2316+30_2316+32del (n.2316+30_2316+32del) c.2448+30_2448+32del (n.2448+30_2448+32del) c.2313+30_2313+32del (n.2313+30_2313+32del) n.2609+30_2609+32del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71561969C>A | CA533655708 | DYSF | c.2355+25C>A (n.2355+25C>A) c.2409+25C>A (n.2409+25C>A) c.2358+25C>A (n.2358+25C>A) c.2406+25C>A (n.2406+25C>A) c.2451+25C>A (n.2451+25C>A) c.2316+25C>A (n.2316+25C>A) c.2448+25C>A (n.2448+25C>A) c.2313+25C>A (n.2313+25C>A) n.2609+25C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71561969C= | CA1260099019 | DYSF | c.2355+25C= (n.2355+25C=) c.2409+25C= (n.2409+25C=) c.2358+25C= (n.2358+25C=) c.2406+25C= (n.2406+25C=) c.2451+25C= (n.2451+25C=) c.2316+25C= (n.2316+25C=) c.2448+25C= (n.2448+25C=) c.2313+25C= (n.2313+25C=) n.2609+25C= | |
| 2 | g.71561969C>T | CA2659548146 | DYSF | c.2355+25C>T (n.2355+25C>T) c.2409+25C>T (n.2409+25C>T) c.2358+25C>T (n.2358+25C>T) c.2406+25C>T (n.2406+25C>T) c.2451+25C>T (n.2451+25C>T) c.2316+25C>T (n.2316+25C>T) c.2448+25C>T (n.2448+25C>T) c.2313+25C>T (n.2313+25C>T) n.2609+25C>T | gnomAD v4 |