Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.71564053T>C | CA1260100530 | DYSF | c.2356-5T>C (n.2356-5T>C) c.2410-5T>C (n.2410-5T>C) c.2359-5T>C (n.2359-5T>C) c.2407-5T>C (n.2407-5T>C) c.2452-5T>C (n.2452-5T>C) c.2317-5T>C (n.2317-5T>C) c.2449-5T>C (n.2449-5T>C) c.2314-5T>C (n.2314-5T>C) n.2610-5T>C | dbSNP gnomAD v4 |
2 | g.71564053T= | CA1260100529 | DYSF | c.2356-5T= (n.2356-5T=) c.2410-5T= (n.2410-5T=) c.2359-5T= (n.2359-5T=) c.2407-5T= (n.2407-5T=) c.2452-5T= (n.2452-5T=) c.2317-5T= (n.2317-5T=) c.2449-5T= (n.2449-5T=) c.2314-5T= (n.2314-5T=) n.2610-5T= | |
2 | g.71564054T>C | CA2522970817 | DYSF | c.2356-4T>C (n.2356-4T>C) c.2410-4T>C (n.2410-4T>C) c.2359-4T>C (n.2359-4T>C) c.2407-4T>C (n.2407-4T>C) c.2452-4T>C (n.2452-4T>C) c.2317-4T>C (n.2317-4T>C) c.2449-4T>C (n.2449-4T>C) c.2314-4T>C (n.2314-4T>C) n.2610-4T>C | |
2 | g.71564055C= | CA1260100532 | DYSF | c.2356-3C= (n.2356-3C=) c.2410-3C= (n.2410-3C=) c.2359-3C= (n.2359-3C=) c.2407-3C= (n.2407-3C=) c.2452-3C= (n.2452-3C=) c.2317-3C= (n.2317-3C=) c.2449-3C= (n.2449-3C=) c.2314-3C= (n.2314-3C=) n.2610-3C= | |
2 | g.71564055C>T | CA1706170 | DYSF | c.2356-3C>T (n.2356-3C>T) c.2410-3C>T (n.2410-3C>T) c.2359-3C>T (n.2359-3C>T) c.2407-3C>T (n.2407-3C>T) c.2452-3C>T (n.2452-3C>T) c.2317-3C>T (n.2317-3C>T) c.2449-3C>T (n.2449-3C>T) c.2314-3C>T (n.2314-3C>T) n.2610-3C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564056A= | CA1260100535 | DYSF | c.2356-2A= (n.2356-2A=) c.2410-2A= (n.2410-2A=) c.2359-2A= (n.2359-2A=) c.2407-2A= (n.2407-2A=) c.2452-2A= (n.2452-2A=) c.2317-2A= (n.2317-2A=) c.2449-2A= (n.2449-2A=) c.2314-2A= (n.2314-2A=) n.2610-2A= | |
2 | g.71564056A>C | CA347211051 | DYSF | c.2356-2A>C (n.2356-2A>C) c.2410-2A>C (n.2410-2A>C) c.2359-2A>C (n.2359-2A>C) c.2407-2A>C (n.2407-2A>C) c.2452-2A>C (n.2452-2A>C) c.2317-2A>C (n.2317-2A>C) c.2449-2A>C (n.2449-2A>C) c.2314-2A>C (n.2314-2A>C) n.2610-2A>C | |
2 | g.71564056A>G | CA347211053 | DYSF | c.2356-2A>G (n.2356-2A>G) c.2410-2A>G (n.2410-2A>G) c.2359-2A>G (n.2359-2A>G) c.2407-2A>G (n.2407-2A>G) c.2452-2A>G (n.2452-2A>G) c.2317-2A>G (n.2317-2A>G) c.2449-2A>G (n.2449-2A>G) c.2314-2A>G (n.2314-2A>G) n.2610-2A>G | ClinVar dbSNP |
2 | g.71564056A>T | CA347211055 | DYSF | c.2356-2A>T (n.2356-2A>T) c.2410-2A>T (n.2410-2A>T) c.2359-2A>T (n.2359-2A>T) c.2407-2A>T (n.2407-2A>T) c.2452-2A>T (n.2452-2A>T) c.2317-2A>T (n.2317-2A>T) c.2449-2A>T (n.2449-2A>T) c.2314-2A>T (n.2314-2A>T) n.2610-2A>T | dbSNP gnomAD v2 |
2 | g.71564057G>A | CA347211063 | DYSF | c.2356-1G>A (n.2356-1G>A) c.2410-1G>A (n.2410-1G>A) c.2359-1G>A (n.2359-1G>A) c.2407-1G>A (n.2407-1G>A) c.2452-1G>A (n.2452-1G>A) c.2317-1G>A (n.2317-1G>A) c.2449-1G>A (n.2449-1G>A) c.2314-1G>A (n.2314-1G>A) n.2610-1G>A | gnomAD v4 |
2 | g.71564057G>C | CA347211058 | DYSF | c.2356-1G>C (n.2356-1G>C) c.2410-1G>C (n.2410-1G>C) c.2359-1G>C (n.2359-1G>C) c.2407-1G>C (n.2407-1G>C) c.2452-1G>C (n.2452-1G>C) c.2317-1G>C (n.2317-1G>C) c.2449-1G>C (n.2449-1G>C) c.2314-1G>C (n.2314-1G>C) n.2610-1G>C | |
2 | g.71564057G>T | CA347211060 | DYSF | c.2356-1G>T (n.2356-1G>T) c.2410-1G>T (n.2410-1G>T) c.2359-1G>T (n.2359-1G>T) c.2407-1G>T (n.2407-1G>T) c.2452-1G>T (n.2452-1G>T) c.2317-1G>T (n.2317-1G>T) c.2449-1G>T (n.2449-1G>T) c.2314-1G>T (n.2314-1G>T) n.2610-1G>T | |
2 | g.71564058C>A | CA1706171 | DYSF | c.2356C>A (p.Pro786Thr) c.2410C>A (p.Pro804Thr) c.2359C>A (p.Pro787Thr) c.2407C>A (p.Pro803Thr) c.2452C>A (p.Pro818Thr) c.2317C>A (p.Pro773Thr) c.2449C>A (p.Pro817Thr) c.2314C>A (p.Pro772Thr) n.2610C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564058C= | CA1260100539 | DYSF | c.2356C= (p.Pro786=) c.2410C= (p.Pro804=) c.2359C= (p.Pro787=) c.2407C= (p.Pro803=) c.2452C= (p.Pro818=) c.2317C= (p.Pro773=) c.2449C= (p.Pro817=) c.2314C= (p.Pro772=) n.2610C= | |
2 | g.71564058C>G | CA347211066 | DYSF | c.2356C>G (p.Pro786Ala) c.2410C>G (p.Pro804Ala) c.2359C>G (p.Pro787Ala) c.2407C>G (p.Pro803Ala) c.2452C>G (p.Pro818Ala) c.2317C>G (p.Pro773Ala) c.2449C>G (p.Pro817Ala) c.2314C>G (p.Pro772Ala) n.2610C>G | gnomAD v4 |
2 | g.71564058C>T | CA347211068 | DYSF | c.2356C>T (p.Pro786Ser) c.2410C>T (p.Pro804Ser) c.2359C>T (p.Pro787Ser) c.2407C>T (p.Pro803Ser) c.2452C>T (p.Pro818Ser) c.2317C>T (p.Pro773Ser) c.2449C>T (p.Pro817Ser) c.2314C>T (p.Pro772Ser) n.2610C>T | |
2 | g.71564061del | CA2659548451 | DYSF | c.2359del (p.Gln787ArgfsTer?) c.2413del (p.Gln805ArgfsTer?) c.2362del (p.Gln788ArgfsTer?) c.2410del (p.Gln804ArgfsTer?) c.2455del (p.Gln819ArgfsTer?) c.2320del (p.Gln774ArgfsTer?) c.2452del (p.Gln818ArgfsTer?) c.2317del (p.Gln773ArgfsTer?) n.2613del | gnomAD v4 |
2 | g.71564059C>A | CA10606842 | DYSF | c.2357C>A (p.Pro786His) c.2411C>A (p.Pro804His) c.2360C>A (p.Pro787His) c.2408C>A (p.Pro803His) c.2453C>A (p.Pro818His) c.2318C>A (p.Pro773His) c.2450C>A (p.Pro817His) c.2315C>A (p.Pro772His) n.2611C>A | ClinVar dbSNP |
2 | g.71564059C= | CA1260100544 | DYSF | c.2357C= (p.Pro786=) c.2411C= (p.Pro804=) c.2360C= (p.Pro787=) c.2408C= (p.Pro803=) c.2453C= (p.Pro818=) c.2318C= (p.Pro773=) c.2450C= (p.Pro817=) c.2315C= (p.Pro772=) n.2611C= | |
2 | g.71564059C>G | CA347211072 | DYSF | c.2357C>G (p.Pro786Arg) c.2411C>G (p.Pro804Arg) c.2360C>G (p.Pro787Arg) c.2408C>G (p.Pro803Arg) c.2453C>G (p.Pro818Arg) c.2318C>G (p.Pro773Arg) c.2450C>G (p.Pro817Arg) c.2315C>G (p.Pro772Arg) n.2611C>G | |
2 | g.71564059C>T | CA1706172 | DYSF | c.2357C>T (p.Pro786Leu) c.2411C>T (p.Pro804Leu) c.2360C>T (p.Pro787Leu) c.2408C>T (p.Pro803Leu) c.2453C>T (p.Pro818Leu) c.2318C>T (p.Pro773Leu) c.2450C>T (p.Pro817Leu) c.2315C>T (p.Pro772Leu) n.2611C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564060C>A | CA426701655 | DYSF | c.2358C>A (p.Pro786=) c.2412C>A (p.Pro804=) c.2361C>A (p.Pro787=) c.2409C>A (p.Pro803=) c.2454C>A (p.Pro818=) c.2319C>A (p.Pro773=) c.2451C>A (p.Pro817=) c.2316C>A (p.Pro772=) n.2612C>A | |
2 | g.71564060C= | CA1260100548 | DYSF | c.2358C= (p.Pro786=) c.2412C= (p.Pro804=) c.2361C= (p.Pro787=) c.2409C= (p.Pro803=) c.2454C= (p.Pro818=) c.2319C= (p.Pro773=) c.2451C= (p.Pro817=) c.2316C= (p.Pro772=) n.2612C= | |
2 | g.71564060C>G | CA426701656 | DYSF | c.2358C>G (p.Pro786=) c.2412C>G (p.Pro804=) c.2361C>G (p.Pro787=) c.2409C>G (p.Pro803=) c.2454C>G (p.Pro818=) c.2319C>G (p.Pro773=) c.2451C>G (p.Pro817=) c.2316C>G (p.Pro772=) n.2612C>G | |
2 | g.71564060C>T | CA426701657 | DYSF | c.2358C>T (p.Pro786=) c.2412C>T (p.Pro804=) c.2361C>T (p.Pro787=) c.2409C>T (p.Pro803=) c.2454C>T (p.Pro818=) c.2319C>T (p.Pro773=) c.2451C>T (p.Pro817=) c.2316C>T (p.Pro772=) n.2612C>T | dbSNP gnomAD v2 |
2 | g.71564061C>A | CA347211075 | DYSF | c.2359C>A (p.Gln787Lys) c.2413C>A (p.Gln805Lys) c.2362C>A (p.Gln788Lys) c.2410C>A (p.Gln804Lys) c.2455C>A (p.Gln819Lys) c.2320C>A (p.Gln774Lys) c.2452C>A (p.Gln818Lys) c.2317C>A (p.Gln773Lys) n.2613C>A | |
2 | g.71564061C>G | CA347211077 | DYSF | c.2359C>G (p.Gln787Glu) c.2413C>G (p.Gln805Glu) c.2362C>G (p.Gln788Glu) c.2410C>G (p.Gln804Glu) c.2455C>G (p.Gln819Glu) c.2320C>G (p.Gln774Glu) c.2452C>G (p.Gln818Glu) c.2317C>G (p.Gln773Glu) n.2613C>G | |
2 | g.71564061C>T | CA347211080 | DYSF | c.2359C>T (p.Gln787Ter) c.2413C>T (p.Gln805Ter) c.2362C>T (p.Gln788Ter) c.2410C>T (p.Gln804Ter) c.2455C>T (p.Gln819Ter) c.2320C>T (p.Gln774Ter) c.2452C>T (p.Gln818Ter) c.2317C>T (p.Gln773Ter) n.2613C>T | |
2 | g.71564062A= | CA1260100550 | DYSF | c.2360A= (p.Gln787=) c.2414A= (p.Gln805=) c.2363A= (p.Gln788=) c.2411A= (p.Gln804=) c.2456A= (p.Gln819=) c.2321A= (p.Gln774=) c.2453A= (p.Gln818=) c.2318A= (p.Gln773=) n.2614A= | |
2 | g.71564062A>C | CA347211082 | DYSF | c.2360A>C (p.Gln787Pro) c.2414A>C (p.Gln805Pro) c.2363A>C (p.Gln788Pro) c.2411A>C (p.Gln804Pro) c.2456A>C (p.Gln819Pro) c.2321A>C (p.Gln774Pro) c.2453A>C (p.Gln818Pro) c.2318A>C (p.Gln773Pro) n.2614A>C | |
2 | g.71564062A>G | CA347211084 | DYSF | c.2360A>G (p.Gln787Arg) c.2414A>G (p.Gln805Arg) c.2363A>G (p.Gln788Arg) c.2411A>G (p.Gln804Arg) c.2456A>G (p.Gln819Arg) c.2321A>G (p.Gln774Arg) c.2453A>G (p.Gln818Arg) c.2318A>G (p.Gln773Arg) n.2614A>G | ClinVar dbSNP |
2 | g.71564062A>T | CA347211086 | DYSF | c.2360A>T (p.Gln787Leu) c.2414A>T (p.Gln805Leu) c.2363A>T (p.Gln788Leu) c.2411A>T (p.Gln804Leu) c.2456A>T (p.Gln819Leu) c.2321A>T (p.Gln774Leu) c.2453A>T (p.Gln818Leu) c.2318A>T (p.Gln773Leu) n.2614A>T | |
2 | g.71564063G>A | CA426701658 | DYSF | c.2361G>A (p.Gln787=) c.2415G>A (p.Gln805=) c.2364G>A (p.Gln788=) c.2412G>A (p.Gln804=) c.2457G>A (p.Gln819=) c.2322G>A (p.Gln774=) c.2454G>A (p.Gln818=) c.2319G>A (p.Gln773=) n.2615G>A | |
2 | g.71564063G>C | CA347211089 | DYSF | c.2361G>C (p.Gln787His) c.2415G>C (p.Gln805His) c.2364G>C (p.Gln788His) c.2412G>C (p.Gln804His) c.2457G>C (p.Gln819His) c.2322G>C (p.Gln774His) c.2454G>C (p.Gln818His) c.2319G>C (p.Gln773His) n.2615G>C | |
2 | g.71564063G= | CA1260100552 | DYSF | c.2361G= (p.Gln787=) c.2415G= (p.Gln805=) c.2364G= (p.Gln788=) c.2412G= (p.Gln804=) c.2457G= (p.Gln819=) c.2322G= (p.Gln774=) c.2454G= (p.Gln818=) c.2319G= (p.Gln773=) n.2615G= | |
2 | g.71564063G>T | CA347211088 | DYSF | c.2361G>T (p.Gln787His) c.2415G>T (p.Gln805His) c.2364G>T (p.Gln788His) c.2412G>T (p.Gln804His) c.2457G>T (p.Gln819His) c.2322G>T (p.Gln774His) c.2454G>T (p.Gln818His) c.2319G>T (p.Gln773His) n.2615G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564064A>C | CA347211091 | DYSF | c.2362A>C (p.Asn788His) c.2416A>C (p.Asn806His) c.2365A>C (p.Asn789His) c.2413A>C (p.Asn805His) c.2458A>C (p.Asn820His) c.2323A>C (p.Asn775His) c.2455A>C (p.Asn819His) c.2320A>C (p.Asn774His) n.2616A>C | |
2 | g.71564064A>G | CA347211093 | DYSF | c.2362A>G (p.Asn788Asp) c.2416A>G (p.Asn806Asp) c.2365A>G (p.Asn789Asp) c.2413A>G (p.Asn805Asp) c.2458A>G (p.Asn820Asp) c.2323A>G (p.Asn775Asp) c.2455A>G (p.Asn819Asp) c.2320A>G (p.Asn774Asp) n.2616A>G | |
2 | g.71564064A>T | CA347211095 | DYSF | c.2362A>T (p.Asn788Tyr) c.2416A>T (p.Asn806Tyr) c.2365A>T (p.Asn789Tyr) c.2413A>T (p.Asn805Tyr) c.2458A>T (p.Asn820Tyr) c.2323A>T (p.Asn775Tyr) c.2455A>T (p.Asn819Tyr) c.2320A>T (p.Asn774Tyr) n.2616A>T | COSMIC COSMIC |
2 | g.71564065A>C | CA347211098 | DYSF | c.2363A>C (p.Asn788Thr) c.2417A>C (p.Asn806Thr) c.2366A>C (p.Asn789Thr) c.2414A>C (p.Asn805Thr) c.2459A>C (p.Asn820Thr) c.2324A>C (p.Asn775Thr) c.2456A>C (p.Asn819Thr) c.2321A>C (p.Asn774Thr) n.2617A>C | |
2 | g.71564065A>G | CA347211099 | DYSF | c.2363A>G (p.Asn788Ser) c.2417A>G (p.Asn806Ser) c.2366A>G (p.Asn789Ser) c.2414A>G (p.Asn805Ser) c.2459A>G (p.Asn820Ser) c.2324A>G (p.Asn775Ser) c.2456A>G (p.Asn819Ser) c.2321A>G (p.Asn774Ser) n.2617A>G | |
2 | g.71564065A>T | CA347211101 | DYSF | c.2363A>T (p.Asn788Ile) c.2417A>T (p.Asn806Ile) c.2366A>T (p.Asn789Ile) c.2414A>T (p.Asn805Ile) c.2459A>T (p.Asn820Ile) c.2324A>T (p.Asn775Ile) c.2456A>T (p.Asn819Ile) c.2321A>T (p.Asn774Ile) n.2617A>T | |
2 | g.71564066C>A | CA347211103 | DYSF | c.2364C>A (p.Asn788Lys) c.2418C>A (p.Asn806Lys) c.2367C>A (p.Asn789Lys) c.2415C>A (p.Asn805Lys) c.2460C>A (p.Asn820Lys) c.2325C>A (p.Asn775Lys) c.2457C>A (p.Asn819Lys) c.2322C>A (p.Asn774Lys) n.2618C>A | |
2 | g.71564066C>G | CA347211105 | DYSF | c.2364C>G (p.Asn788Lys) c.2418C>G (p.Asn806Lys) c.2367C>G (p.Asn789Lys) c.2415C>G (p.Asn805Lys) c.2460C>G (p.Asn820Lys) c.2325C>G (p.Asn775Lys) c.2457C>G (p.Asn819Lys) c.2322C>G (p.Asn774Lys) n.2618C>G | |
2 | g.71564066C>T | CA426701659 | DYSF | c.2364C>T (p.Asn788=) c.2418C>T (p.Asn806=) c.2367C>T (p.Asn789=) c.2415C>T (p.Asn805=) c.2460C>T (p.Asn820=) c.2325C>T (p.Asn775=) c.2457C>T (p.Asn819=) c.2322C>T (p.Asn774=) n.2618C>T | ClinVar |
2 | g.71564067A>C | CA347211108 | DYSF | c.2365A>C (p.Ser789Arg) c.2419A>C (p.Ser807Arg) c.2368A>C (p.Ser790Arg) c.2416A>C (p.Ser806Arg) c.2461A>C (p.Ser821Arg) c.2326A>C (p.Ser776Arg) c.2458A>C (p.Ser820Arg) c.2323A>C (p.Ser775Arg) n.2619A>C | |
2 | g.71564067A>G | CA347211110 | DYSF | c.2365A>G (p.Ser789Gly) c.2419A>G (p.Ser807Gly) c.2368A>G (p.Ser790Gly) c.2416A>G (p.Ser806Gly) c.2461A>G (p.Ser821Gly) c.2326A>G (p.Ser776Gly) c.2458A>G (p.Ser820Gly) c.2323A>G (p.Ser775Gly) n.2619A>G | gnomAD v4 |
2 | g.71564067A>T | CA347211112 | DYSF | c.2365A>T (p.Ser789Cys) c.2419A>T (p.Ser807Cys) c.2368A>T (p.Ser790Cys) c.2416A>T (p.Ser806Cys) c.2461A>T (p.Ser821Cys) c.2326A>T (p.Ser776Cys) c.2458A>T (p.Ser820Cys) c.2323A>T (p.Ser775Cys) n.2619A>T | |
2 | g.71564068G>A | CA347211115 | DYSF | c.2366G>A (p.Ser789Asn) c.2420G>A (p.Ser807Asn) c.2369G>A (p.Ser790Asn) c.2417G>A (p.Ser806Asn) c.2462G>A (p.Ser821Asn) c.2327G>A (p.Ser776Asn) c.2459G>A (p.Ser820Asn) c.2324G>A (p.Ser775Asn) n.2620G>A | |
2 | g.71564068G>C | CA10606089 | DYSF | c.2366G>C (p.Ser789Thr) c.2420G>C (p.Ser807Thr) c.2369G>C (p.Ser790Thr) c.2417G>C (p.Ser806Thr) c.2462G>C (p.Ser821Thr) c.2327G>C (p.Ser776Thr) c.2459G>C (p.Ser820Thr) c.2324G>C (p.Ser775Thr) n.2620G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564068G= | CA1260100559 | DYSF | c.2366G= (p.Ser789=) c.2420G= (p.Ser807=) c.2369G= (p.Ser790=) c.2417G= (p.Ser806=) c.2462G= (p.Ser821=) c.2327G= (p.Ser776=) c.2459G= (p.Ser820=) c.2324G= (p.Ser775=) n.2620G= | |
2 | g.71564068G>T | CA347211118 | DYSF | c.2366G>T (p.Ser789Ile) c.2420G>T (p.Ser807Ile) c.2369G>T (p.Ser790Ile) c.2417G>T (p.Ser806Ile) c.2462G>T (p.Ser821Ile) c.2327G>T (p.Ser776Ile) c.2459G>T (p.Ser820Ile) c.2324G>T (p.Ser775Ile) n.2620G>T | |
2 | g.71564069C>A | CA347211124 | DYSF | c.2367C>A (p.Ser789Arg) c.2421C>A (p.Ser807Arg) c.2370C>A (p.Ser790Arg) c.2418C>A (p.Ser806Arg) c.2463C>A (p.Ser821Arg) c.2328C>A (p.Ser776Arg) c.2460C>A (p.Ser820Arg) c.2325C>A (p.Ser775Arg) n.2621C>A | |
2 | g.71564069C= | CA1260100569 | DYSF | c.2367C= (p.Ser789=) c.2421C= (p.Ser807=) c.2370C= (p.Ser790=) c.2418C= (p.Ser806=) c.2463C= (p.Ser821=) c.2328C= (p.Ser776=) c.2460C= (p.Ser820=) c.2325C= (p.Ser775=) n.2621C= | |
2 | g.71564069C>G | CA347211122 | DYSF | c.2367C>G (p.Ser789Arg) c.2421C>G (p.Ser807Arg) c.2370C>G (p.Ser790Arg) c.2418C>G (p.Ser806Arg) c.2463C>G (p.Ser821Arg) c.2328C>G (p.Ser776Arg) c.2460C>G (p.Ser820Arg) c.2325C>G (p.Ser775Arg) n.2621C>G | gnomAD v4 |
2 | g.71564069C>T | CA1706173 | DYSF | c.2367C>T (p.Ser789=) c.2421C>T (p.Ser807=) c.2370C>T (p.Ser790=) c.2418C>T (p.Ser806=) c.2463C>T (p.Ser821=) c.2328C>T (p.Ser776=) c.2460C>T (p.Ser820=) c.2325C>T (p.Ser775=) n.2621C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564070C>A | CA347211126 | DYSF | c.2368C>A (p.Leu790Met) c.2422C>A (p.Leu808Met) c.2371C>A (p.Leu791Met) c.2419C>A (p.Leu807Met) c.2464C>A (p.Leu822Met) c.2329C>A (p.Leu777Met) c.2461C>A (p.Leu821Met) c.2326C>A (p.Leu776Met) n.2622C>A | COSMIC COSMIC |
2 | g.71564070C>G | CA347211128 | DYSF | c.2368C>G (p.Leu790Val) c.2422C>G (p.Leu808Val) c.2371C>G (p.Leu791Val) c.2419C>G (p.Leu807Val) c.2464C>G (p.Leu822Val) c.2329C>G (p.Leu777Val) c.2461C>G (p.Leu821Val) c.2326C>G (p.Leu776Val) n.2622C>G | |
2 | g.71564070C>T | CA426701660 | DYSF | c.2368C>T (p.Leu790=) c.2422C>T (p.Leu808=) c.2371C>T (p.Leu791=) c.2419C>T (p.Leu807=) c.2464C>T (p.Leu822=) c.2329C>T (p.Leu777=) c.2461C>T (p.Leu821=) c.2326C>T (p.Leu776=) n.2622C>T | |
2 | g.71564071T>A | CA347211137 | DYSF | c.2369T>A (p.Leu790Gln) c.2423T>A (p.Leu808Gln) c.2372T>A (p.Leu791Gln) c.2420T>A (p.Leu807Gln) c.2465T>A (p.Leu822Gln) c.2330T>A (p.Leu777Gln) c.2462T>A (p.Leu821Gln) c.2327T>A (p.Leu776Gln) n.2623T>A | |
2 | g.71564071T>C | CA347211138 | DYSF | c.2369T>C (p.Leu790Pro) c.2423T>C (p.Leu808Pro) c.2372T>C (p.Leu791Pro) c.2420T>C (p.Leu807Pro) c.2465T>C (p.Leu822Pro) c.2330T>C (p.Leu777Pro) c.2462T>C (p.Leu821Pro) c.2327T>C (p.Leu776Pro) n.2623T>C | |
2 | g.71564071T>G | CA347211139 | DYSF | c.2369T>G (p.Leu790Arg) c.2423T>G (p.Leu808Arg) c.2372T>G (p.Leu791Arg) c.2420T>G (p.Leu807Arg) c.2465T>G (p.Leu822Arg) c.2330T>G (p.Leu777Arg) c.2462T>G (p.Leu821Arg) c.2327T>G (p.Leu776Arg) n.2623T>G | |
2 | g.71564072G>A | CA426701662 | DYSF | c.2370G>A (p.Leu790=) c.2424G>A (p.Leu808=) c.2373G>A (p.Leu791=) c.2421G>A (p.Leu807=) c.2466G>A (p.Leu822=) c.2331G>A (p.Leu777=) c.2463G>A (p.Leu821=) c.2328G>A (p.Leu776=) n.2624G>A | ClinVar gnomAD v4 |
2 | g.71564072G>C | CA426701661 | DYSF | c.2370G>C (p.Leu790=) c.2424G>C (p.Leu808=) c.2373G>C (p.Leu791=) c.2421G>C (p.Leu807=) c.2466G>C (p.Leu822=) c.2331G>C (p.Leu777=) c.2463G>C (p.Leu821=) c.2328G>C (p.Leu776=) n.2624G>C | |
2 | g.71564072G= | CA1260100579 | DYSF | c.2370G= (p.Leu790=) c.2424G= (p.Leu808=) c.2373G= (p.Leu791=) c.2421G= (p.Leu807=) c.2466G= (p.Leu822=) c.2331G= (p.Leu777=) c.2463G= (p.Leu821=) c.2328G= (p.Leu776=) n.2624G= | |
2 | g.71564072G>T | CA1706174 | DYSF | c.2370G>T (p.Leu790=) c.2424G>T (p.Leu808=) c.2373G>T (p.Leu791=) c.2421G>T (p.Leu807=) c.2466G>T (p.Leu822=) c.2331G>T (p.Leu777=) c.2463G>T (p.Leu821=) c.2328G>T (p.Leu776=) n.2624G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564073C>A | CA347211143 | DYSF | c.2371C>A (p.Pro791Thr) c.2425C>A (p.Pro809Thr) c.2374C>A (p.Pro792Thr) c.2422C>A (p.Pro808Thr) c.2467C>A (p.Pro823Thr) c.2332C>A (p.Pro778Thr) c.2464C>A (p.Pro822Thr) c.2329C>A (p.Pro777Thr) n.2625C>A | |
2 | g.71564073C= | CA1260100595 | DYSF | c.2371C= (p.Pro791=) c.2425C= (p.Pro809=) c.2374C= (p.Pro792=) c.2422C= (p.Pro808=) c.2467C= (p.Pro823=) c.2332C= (p.Pro778=) c.2464C= (p.Pro822=) c.2329C= (p.Pro777=) n.2625C= | |
2 | g.71564073C>G | CA347211146 | DYSF | c.2371C>G (p.Pro791Ala) c.2425C>G (p.Pro809Ala) c.2374C>G (p.Pro792Ala) c.2422C>G (p.Pro808Ala) c.2467C>G (p.Pro823Ala) c.2332C>G (p.Pro778Ala) c.2464C>G (p.Pro822Ala) c.2329C>G (p.Pro777Ala) n.2625C>G | |
2 | g.71564073C>T | CA347211148 | DYSF | c.2371C>T (p.Pro791Ser) c.2425C>T (p.Pro809Ser) c.2374C>T (p.Pro792Ser) c.2422C>T (p.Pro808Ser) c.2467C>T (p.Pro823Ser) c.2332C>T (p.Pro778Ser) c.2464C>T (p.Pro822Ser) c.2329C>T (p.Pro777Ser) n.2625C>T | dbSNP COSMIC COSMIC |
2 | g.71564074dup | CA1706175 | DYSF | c.2372dup (p.Asp792GlyfsTer?) c.2426dup (p.Asp810GlyfsTer?) c.2375dup (p.Asp793GlyfsTer?) c.2423dup (p.Asp809GlyfsTer?) c.2468dup (p.Asp824GlyfsTer?) c.2333dup (p.Asp779GlyfsTer?) c.2465dup (p.Asp823GlyfsTer?) c.2330dup (p.Asp778GlyfsTer?) n.2626dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564074C>A | CA347211150 | DYSF | c.2372C>A (p.Pro791Gln) c.2426C>A (p.Pro809Gln) c.2375C>A (p.Pro792Gln) c.2423C>A (p.Pro808Gln) c.2468C>A (p.Pro823Gln) c.2333C>A (p.Pro778Gln) c.2465C>A (p.Pro822Gln) c.2330C>A (p.Pro777Gln) n.2626C>A | dbSNP gnomAD v2 |
2 | g.71564074C= | CA1260100602 | DYSF | c.2372C= (p.Pro791=) c.2426C= (p.Pro809=) c.2375C= (p.Pro792=) c.2423C= (p.Pro808=) c.2468C= (p.Pro823=) c.2333C= (p.Pro778=) c.2465C= (p.Pro822=) c.2330C= (p.Pro777=) n.2626C= | |
2 | g.71564074C>G | CA222139 | DYSF | c.2372C>G (p.Pro791Arg) c.2426C>G (p.Pro809Arg) c.2375C>G (p.Pro792Arg) c.2423C>G (p.Pro808Arg) c.2468C>G (p.Pro823Arg) c.2333C>G (p.Pro778Arg) c.2465C>G (p.Pro822Arg) c.2330C>G (p.Pro777Arg) n.2626C>G | ClinVar dbSNP |
2 | g.71564074C>T | CA49742304 | DYSF | c.2372C>T (p.Pro791Leu) c.2426C>T (p.Pro809Leu) c.2375C>T (p.Pro792Leu) c.2423C>T (p.Pro808Leu) c.2468C>T (p.Pro823Leu) c.2333C>T (p.Pro778Leu) c.2465C>T (p.Pro822Leu) c.2330C>T (p.Pro777Leu) n.2626C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564075G>A | CA1706176 | DYSF | c.2373G>A (p.Pro791=) c.2427G>A (p.Pro809=) c.2376G>A (p.Pro792=) c.2424G>A (p.Pro808=) c.2469G>A (p.Pro823=) c.2334G>A (p.Pro778=) c.2466G>A (p.Pro822=) c.2331G>A (p.Pro777=) n.2627G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564075G>C | CA426701663 | DYSF | c.2373G>C (p.Pro791=) c.2427G>C (p.Pro809=) c.2376G>C (p.Pro792=) c.2424G>C (p.Pro808=) c.2469G>C (p.Pro823=) c.2334G>C (p.Pro778=) c.2466G>C (p.Pro822=) c.2331G>C (p.Pro777=) n.2627G>C | |
2 | g.71564075G= | CA1260100610 | DYSF | c.2373G= (p.Pro791=) c.2427G= (p.Pro809=) c.2376G= (p.Pro792=) c.2424G= (p.Pro808=) c.2469G= (p.Pro823=) c.2334G= (p.Pro778=) c.2466G= (p.Pro822=) c.2331G= (p.Pro777=) n.2627G= | |
2 | g.71564075G>T | CA426701664 | DYSF | c.2373G>T (p.Pro791=) c.2427G>T (p.Pro809=) c.2376G>T (p.Pro792=) c.2424G>T (p.Pro808=) c.2469G>T (p.Pro823=) c.2334G>T (p.Pro778=) c.2466G>T (p.Pro822=) c.2331G>T (p.Pro777=) n.2627G>T | COSMIC COSMIC |
2 | g.71564076G>A | CA347211157 | DYSF | c.2374G>A (p.Asp792Asn) c.2428G>A (p.Asp810Asn) c.2377G>A (p.Asp793Asn) c.2425G>A (p.Asp809Asn) c.2470G>A (p.Asp824Asn) c.2335G>A (p.Asp779Asn) c.2467G>A (p.Asp823Asn) c.2332G>A (p.Asp778Asn) n.2628G>A | |
2 | g.71564076G>C | CA347211155 | DYSF | c.2374G>C (p.Asp792His) c.2428G>C (p.Asp810His) c.2377G>C (p.Asp793His) c.2425G>C (p.Asp809His) c.2470G>C (p.Asp824His) c.2335G>C (p.Asp779His) c.2467G>C (p.Asp823His) c.2332G>C (p.Asp778His) n.2628G>C | |
2 | g.71564076G>T | CA347211153 | DYSF | c.2374G>T (p.Asp792Tyr) c.2428G>T (p.Asp810Tyr) c.2377G>T (p.Asp793Tyr) c.2425G>T (p.Asp809Tyr) c.2470G>T (p.Asp824Tyr) c.2335G>T (p.Asp779Tyr) c.2467G>T (p.Asp823Tyr) c.2332G>T (p.Asp778Tyr) n.2628G>T | |
2 | g.71564077A>C | CA347211159 | DYSF | c.2375A>C (p.Asp792Ala) c.2429A>C (p.Asp810Ala) c.2378A>C (p.Asp793Ala) c.2426A>C (p.Asp809Ala) c.2471A>C (p.Asp824Ala) c.2336A>C (p.Asp779Ala) c.2468A>C (p.Asp823Ala) c.2333A>C (p.Asp778Ala) n.2629A>C | gnomAD v4 |
2 | g.71564077A>G | CA347211161 | DYSF | c.2375A>G (p.Asp792Gly) c.2429A>G (p.Asp810Gly) c.2378A>G (p.Asp793Gly) c.2426A>G (p.Asp809Gly) c.2471A>G (p.Asp824Gly) c.2336A>G (p.Asp779Gly) c.2468A>G (p.Asp823Gly) c.2333A>G (p.Asp778Gly) n.2629A>G | |
2 | g.71564077A>T | CA347211163 | DYSF | c.2375A>T (p.Asp792Val) c.2429A>T (p.Asp810Val) c.2378A>T (p.Asp793Val) c.2426A>T (p.Asp809Val) c.2471A>T (p.Asp824Val) c.2336A>T (p.Asp779Val) c.2468A>T (p.Asp823Val) c.2333A>T (p.Asp778Val) n.2629A>T | |
2 | g.71564078C>A | CA347211167 | DYSF | c.2376C>A (p.Asp792Glu) c.2430C>A (p.Asp810Glu) c.2379C>A (p.Asp793Glu) c.2427C>A (p.Asp809Glu) c.2472C>A (p.Asp824Glu) c.2337C>A (p.Asp779Glu) c.2469C>A (p.Asp823Glu) c.2334C>A (p.Asp778Glu) n.2630C>A | |
2 | g.71564078C>G | CA347211169 | DYSF | c.2376C>G (p.Asp792Glu) c.2430C>G (p.Asp810Glu) c.2379C>G (p.Asp793Glu) c.2427C>G (p.Asp809Glu) c.2472C>G (p.Asp824Glu) c.2337C>G (p.Asp779Glu) c.2469C>G (p.Asp823Glu) c.2334C>G (p.Asp778Glu) n.2630C>G | |
2 | g.71564078C>T | CA426701665 | DYSF | c.2376C>T (p.Asp792=) c.2430C>T (p.Asp810=) c.2379C>T (p.Asp793=) c.2427C>T (p.Asp809=) c.2472C>T (p.Asp824=) c.2337C>T (p.Asp779=) c.2469C>T (p.Asp823=) c.2334C>T (p.Asp778=) n.2630C>T | |
2 | g.71564079A>C | CA347211171 | DYSF | c.2377A>C (p.Ile793Leu) c.2431A>C (p.Ile811Leu) c.2380A>C (p.Ile794Leu) c.2428A>C (p.Ile810Leu) c.2473A>C (p.Ile825Leu) c.2338A>C (p.Ile780Leu) c.2470A>C (p.Ile824Leu) c.2335A>C (p.Ile779Leu) n.2631A>C | |
2 | g.71564079A>G | CA347211173 | DYSF | c.2377A>G (p.Ile793Val) c.2431A>G (p.Ile811Val) c.2380A>G (p.Ile794Val) c.2428A>G (p.Ile810Val) c.2473A>G (p.Ile825Val) c.2338A>G (p.Ile780Val) c.2470A>G (p.Ile824Val) c.2335A>G (p.Ile779Val) n.2631A>G | gnomAD v4 |
2 | g.71564079A>T | CA347211175 | DYSF | c.2377A>T (p.Ile793Phe) c.2431A>T (p.Ile811Phe) c.2380A>T (p.Ile794Phe) c.2428A>T (p.Ile810Phe) c.2473A>T (p.Ile825Phe) c.2338A>T (p.Ile780Phe) c.2470A>T (p.Ile824Phe) c.2335A>T (p.Ile779Phe) n.2631A>T | |
2 | g.71564080T>A | CA347211177 | DYSF | c.2378T>A (p.Ile793Asn) c.2432T>A (p.Ile811Asn) c.2381T>A (p.Ile794Asn) c.2429T>A (p.Ile810Asn) c.2474T>A (p.Ile825Asn) c.2339T>A (p.Ile780Asn) c.2471T>A (p.Ile824Asn) c.2336T>A (p.Ile779Asn) n.2632T>A | |
2 | g.71564080T>C | CA347211179 | DYSF | c.2378T>C (p.Ile793Thr) c.2432T>C (p.Ile811Thr) c.2381T>C (p.Ile794Thr) c.2429T>C (p.Ile810Thr) c.2474T>C (p.Ile825Thr) c.2339T>C (p.Ile780Thr) c.2471T>C (p.Ile824Thr) c.2336T>C (p.Ile779Thr) n.2632T>C | COSMIC COSMIC |
2 | g.71564080T>G | CA347211182 | DYSF | c.2378T>G (p.Ile793Ser) c.2432T>G (p.Ile811Ser) c.2381T>G (p.Ile794Ser) c.2429T>G (p.Ile810Ser) c.2474T>G (p.Ile825Ser) c.2339T>G (p.Ile780Ser) c.2471T>G (p.Ile824Ser) c.2336T>G (p.Ile779Ser) n.2632T>G | |
2 | g.71564081C>A | CA426701666 | DYSF | c.2379C>A (p.Ile793=) c.2433C>A (p.Ile811=) c.2382C>A (p.Ile794=) c.2430C>A (p.Ile810=) c.2475C>A (p.Ile825=) c.2340C>A (p.Ile780=) c.2472C>A (p.Ile824=) c.2337C>A (p.Ile779=) n.2633C>A | |
2 | g.71564081C= | CA1260100616 | DYSF | c.2379C= (p.Ile793=) c.2433C= (p.Ile811=) c.2382C= (p.Ile794=) c.2430C= (p.Ile810=) c.2475C= (p.Ile825=) c.2340C= (p.Ile780=) c.2472C= (p.Ile824=) c.2337C= (p.Ile779=) n.2633C= | |
2 | g.71564081C>G | CA347211184 | DYSF | c.2379C>G (p.Ile793Met) c.2433C>G (p.Ile811Met) c.2382C>G (p.Ile794Met) c.2430C>G (p.Ile810Met) c.2475C>G (p.Ile825Met) c.2340C>G (p.Ile780Met) c.2472C>G (p.Ile824Met) c.2337C>G (p.Ile779Met) n.2633C>G | |
2 | g.71564081C>T | CA1706177 | DYSF | c.2379C>T (p.Ile793=) c.2433C>T (p.Ile811=) c.2382C>T (p.Ile794=) c.2430C>T (p.Ile810=) c.2475C>T (p.Ile825=) c.2340C>T (p.Ile780=) c.2472C>T (p.Ile824=) c.2337C>T (p.Ile779=) n.2633C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564082G>A | CA1706178 | DYSF | c.2380G>A (p.Val794Ile) c.2434G>A (p.Val812Ile) c.2383G>A (p.Val795Ile) c.2431G>A (p.Val811Ile) c.2476G>A (p.Val826Ile) c.2341G>A (p.Val781Ile) c.2473G>A (p.Val825Ile) c.2338G>A (p.Val780Ile) n.2634G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564082G>C | CA347211192 | DYSF | c.2380G>C (p.Val794Leu) c.2434G>C (p.Val812Leu) c.2383G>C (p.Val795Leu) c.2431G>C (p.Val811Leu) c.2476G>C (p.Val826Leu) c.2341G>C (p.Val781Leu) c.2473G>C (p.Val825Leu) c.2338G>C (p.Val780Leu) n.2634G>C | |
2 | g.71564082G= | CA1260100622 | DYSF | c.2380G= (p.Val794=) c.2434G= (p.Val812=) c.2383G= (p.Val795=) c.2431G= (p.Val811=) c.2476G= (p.Val826=) c.2341G= (p.Val781=) c.2473G= (p.Val825=) c.2338G= (p.Val780=) n.2634G= | |
2 | g.71564082G>T | CA347211191 | DYSF | c.2380G>T (p.Val794Phe) c.2434G>T (p.Val812Phe) c.2383G>T (p.Val795Phe) c.2431G>T (p.Val811Phe) c.2476G>T (p.Val826Phe) c.2341G>T (p.Val781Phe) c.2473G>T (p.Val825Phe) c.2338G>T (p.Val780Phe) n.2634G>T | |
2 | g.71564083T>A | CA347211196 | DYSF | c.2381T>A (p.Val794Asp) c.2435T>A (p.Val812Asp) c.2384T>A (p.Val795Asp) c.2432T>A (p.Val811Asp) c.2477T>A (p.Val826Asp) c.2342T>A (p.Val781Asp) c.2474T>A (p.Val825Asp) c.2339T>A (p.Val780Asp) n.2635T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564083T>C | CA347211198 | DYSF | c.2381T>C (p.Val794Ala) c.2435T>C (p.Val812Ala) c.2384T>C (p.Val795Ala) c.2432T>C (p.Val811Ala) c.2477T>C (p.Val826Ala) c.2342T>C (p.Val781Ala) c.2474T>C (p.Val825Ala) c.2339T>C (p.Val780Ala) n.2635T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564083T>G | CA347211200 | DYSF | c.2381T>G (p.Val794Gly) c.2435T>G (p.Val812Gly) c.2384T>G (p.Val795Gly) c.2432T>G (p.Val811Gly) c.2477T>G (p.Val826Gly) c.2342T>G (p.Val781Gly) c.2474T>G (p.Val825Gly) c.2339T>G (p.Val780Gly) n.2635T>G | |
2 | g.71564083T= | CA1260100630 | DYSF | c.2381T= (p.Val794=) c.2435T= (p.Val812=) c.2384T= (p.Val795=) c.2432T= (p.Val811=) c.2477T= (p.Val826=) c.2342T= (p.Val781=) c.2474T= (p.Val825=) c.2339T= (p.Val780=) n.2635T= | |
2 | g.71564084C>A | CA426701667 | DYSF | c.2382C>A (p.Val794=) c.2436C>A (p.Val812=) c.2385C>A (p.Val795=) c.2433C>A (p.Val811=) c.2478C>A (p.Val826=) c.2343C>A (p.Val781=) c.2475C>A (p.Val825=) c.2340C>A (p.Val780=) n.2636C>A | |
2 | g.71564084C= | CA1260100635 | DYSF | c.2382C= (p.Val794=) c.2436C= (p.Val812=) c.2385C= (p.Val795=) c.2433C= (p.Val811=) c.2478C= (p.Val826=) c.2343C= (p.Val781=) c.2475C= (p.Val825=) c.2340C= (p.Val780=) n.2636C= | |
2 | g.71564084C>G | CA426701668 | DYSF | c.2382C>G (p.Val794=) c.2436C>G (p.Val812=) c.2385C>G (p.Val795=) c.2433C>G (p.Val811=) c.2478C>G (p.Val826=) c.2343C>G (p.Val781=) c.2475C>G (p.Val825=) c.2340C>G (p.Val780=) n.2636C>G | |
2 | g.71564084C>T | CA49742309 | DYSF | c.2382C>T (p.Val794=) c.2436C>T (p.Val812=) c.2385C>T (p.Val795=) c.2433C>T (p.Val811=) c.2478C>T (p.Val826=) c.2343C>T (p.Val781=) c.2475C>T (p.Val825=) c.2340C>T (p.Val780=) n.2636C>T | ClinVar dbSNP COSMIC COSMIC |
2 | g.71564085A>C | CA347211203 | DYSF | c.2383A>C (p.Ile795Leu) c.2437A>C (p.Ile813Leu) c.2386A>C (p.Ile796Leu) c.2434A>C (p.Ile812Leu) c.2479A>C (p.Ile827Leu) c.2344A>C (p.Ile782Leu) c.2476A>C (p.Ile826Leu) c.2341A>C (p.Ile781Leu) n.2637A>C | gnomAD v4 |
2 | g.71564085A>G | CA347211204 | DYSF | c.2383A>G (p.Ile795Val) c.2437A>G (p.Ile813Val) c.2386A>G (p.Ile796Val) c.2434A>G (p.Ile812Val) c.2479A>G (p.Ile827Val) c.2344A>G (p.Ile782Val) c.2476A>G (p.Ile826Val) c.2341A>G (p.Ile781Val) n.2637A>G | |
2 | g.71564085A>T | CA347211207 | DYSF | c.2383A>T (p.Ile795Phe) c.2437A>T (p.Ile813Phe) c.2386A>T (p.Ile796Phe) c.2434A>T (p.Ile812Phe) c.2479A>T (p.Ile827Phe) c.2344A>T (p.Ile782Phe) c.2476A>T (p.Ile826Phe) c.2341A>T (p.Ile781Phe) n.2637A>T | |
2 | g.71564086T>A | CA347211211 | DYSF | c.2384T>A (p.Ile795Asn) c.2438T>A (p.Ile813Asn) c.2387T>A (p.Ile796Asn) c.2435T>A (p.Ile812Asn) c.2480T>A (p.Ile827Asn) c.2345T>A (p.Ile782Asn) c.2477T>A (p.Ile826Asn) c.2342T>A (p.Ile781Asn) n.2638T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564086T>C | CA347211213 | DYSF | c.2384T>C (p.Ile795Thr) c.2438T>C (p.Ile813Thr) c.2387T>C (p.Ile796Thr) c.2435T>C (p.Ile812Thr) c.2480T>C (p.Ile827Thr) c.2345T>C (p.Ile782Thr) c.2477T>C (p.Ile826Thr) c.2342T>C (p.Ile781Thr) n.2638T>C | |
2 | g.71564086T>G | CA347211215 | DYSF | c.2384T>G (p.Ile795Ser) c.2438T>G (p.Ile813Ser) c.2387T>G (p.Ile796Ser) c.2435T>G (p.Ile812Ser) c.2480T>G (p.Ile827Ser) c.2345T>G (p.Ile782Ser) c.2477T>G (p.Ile826Ser) c.2342T>G (p.Ile781Ser) n.2638T>G | |
2 | g.71564086T= | CA1260100642 | DYSF | c.2384T= (p.Ile795=) c.2438T= (p.Ile813=) c.2387T= (p.Ile796=) c.2435T= (p.Ile812=) c.2480T= (p.Ile827=) c.2345T= (p.Ile782=) c.2477T= (p.Ile826=) c.2342T= (p.Ile781=) n.2638T= | |
2 | g.71564087C>A | CA426701669 | DYSF | c.2385C>A (p.Ile795=) c.2439C>A (p.Ile813=) c.2388C>A (p.Ile796=) c.2436C>A (p.Ile812=) c.2481C>A (p.Ile827=) c.2346C>A (p.Ile782=) c.2478C>A (p.Ile826=) c.2343C>A (p.Ile781=) n.2639C>A | |
2 | g.71564087C= | CA1260100646 | DYSF | c.2385C= (p.Ile795=) c.2439C= (p.Ile813=) c.2388C= (p.Ile796=) c.2436C= (p.Ile812=) c.2481C= (p.Ile827=) c.2346C= (p.Ile782=) c.2478C= (p.Ile826=) c.2343C= (p.Ile781=) n.2639C= | |
2 | g.71564087C>G | CA347211217 | DYSF | c.2385C>G (p.Ile795Met) c.2439C>G (p.Ile813Met) c.2388C>G (p.Ile796Met) c.2436C>G (p.Ile812Met) c.2481C>G (p.Ile827Met) c.2346C>G (p.Ile782Met) c.2478C>G (p.Ile826Met) c.2343C>G (p.Ile781Met) n.2639C>G | ClinVar dbSNP |
2 | g.71564087C>T | CA426701670 | DYSF | c.2385C>T (p.Ile795=) c.2439C>T (p.Ile813=) c.2388C>T (p.Ile796=) c.2436C>T (p.Ile812=) c.2481C>T (p.Ile827=) c.2346C>T (p.Ile782=) c.2478C>T (p.Ile826=) c.2343C>T (p.Ile781=) n.2639C>T | gnomAD v4 COSMIC COSMIC |
2 | g.71564090_71564096del | CA2586969473 | DYSF | c.2388_2394del (p.Trp796CysfsTer?) c.2442_2448del (p.Trp814CysfsTer?) c.2391_2397del (p.Trp797CysfsTer?) c.2439_2445del (p.Trp813CysfsTer?) c.2484_2490del (p.Trp828CysfsTer?) c.2349_2355del (p.Trp783CysfsTer?) c.2481_2487del (p.Trp827CysfsTer?) c.2346_2352del (p.Trp782CysfsTer?) n.2642_2648del | |
2 | g.71564088T>A | CA347211221 | DYSF | c.2386T>A (p.Trp796Arg) c.2440T>A (p.Trp814Arg) c.2389T>A (p.Trp797Arg) c.2437T>A (p.Trp813Arg) c.2482T>A (p.Trp828Arg) c.2347T>A (p.Trp783Arg) c.2479T>A (p.Trp827Arg) c.2344T>A (p.Trp782Arg) n.2640T>A | |
2 | g.71564088T>C | CA347211222 | DYSF | c.2386T>C (p.Trp796Arg) c.2440T>C (p.Trp814Arg) c.2389T>C (p.Trp797Arg) c.2437T>C (p.Trp813Arg) c.2482T>C (p.Trp828Arg) c.2347T>C (p.Trp783Arg) c.2479T>C (p.Trp827Arg) c.2344T>C (p.Trp782Arg) n.2640T>C | |
2 | g.71564088T>G | CA347211224 | DYSF | c.2386T>G (p.Trp796Gly) c.2440T>G (p.Trp814Gly) c.2389T>G (p.Trp797Gly) c.2437T>G (p.Trp813Gly) c.2482T>G (p.Trp828Gly) c.2347T>G (p.Trp783Gly) c.2479T>G (p.Trp827Gly) c.2344T>G (p.Trp782Gly) n.2640T>G | |
2 | g.71564089G>A | CA347211229 | DYSF | c.2387G>A (p.Trp796Ter) c.2441G>A (p.Trp814Ter) c.2390G>A (p.Trp797Ter) c.2438G>A (p.Trp813Ter) c.2483G>A (p.Trp828Ter) c.2348G>A (p.Trp783Ter) c.2480G>A (p.Trp827Ter) c.2345G>A (p.Trp782Ter) n.2641G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564089G>C | CA347211231 | DYSF | c.2387G>C (p.Trp796Ser) c.2441G>C (p.Trp814Ser) c.2390G>C (p.Trp797Ser) c.2438G>C (p.Trp813Ser) c.2483G>C (p.Trp828Ser) c.2348G>C (p.Trp783Ser) c.2480G>C (p.Trp827Ser) c.2345G>C (p.Trp782Ser) n.2641G>C | |
2 | g.71564089G= | CA1260100650 | DYSF | c.2387G= (p.Trp796=) c.2441G= (p.Trp814=) c.2390G= (p.Trp797=) c.2438G= (p.Trp813=) c.2483G= (p.Trp828=) c.2348G= (p.Trp783=) c.2480G= (p.Trp827=) c.2345G= (p.Trp782=) n.2641G= | |
2 | g.71564089G>T | CA347211227 | DYSF | c.2387G>T (p.Trp796Leu) c.2441G>T (p.Trp814Leu) c.2390G>T (p.Trp797Leu) c.2438G>T (p.Trp813Leu) c.2483G>T (p.Trp828Leu) c.2348G>T (p.Trp783Leu) c.2480G>T (p.Trp827Leu) c.2345G>T (p.Trp782Leu) n.2641G>T | |
2 | g.71564090G>A | CA347211234 | DYSF | c.2388G>A (p.Trp796Ter) c.2442G>A (p.Trp814Ter) c.2391G>A (p.Trp797Ter) c.2439G>A (p.Trp813Ter) c.2484G>A (p.Trp828Ter) c.2349G>A (p.Trp783Ter) c.2481G>A (p.Trp827Ter) c.2346G>A (p.Trp782Ter) n.2642G>A | ClinVar dbSNP |
2 | g.71564090G>C | CA347211238 | DYSF | c.2388G>C (p.Trp796Cys) c.2442G>C (p.Trp814Cys) c.2391G>C (p.Trp797Cys) c.2439G>C (p.Trp813Cys) c.2484G>C (p.Trp828Cys) c.2349G>C (p.Trp783Cys) c.2481G>C (p.Trp827Cys) c.2346G>C (p.Trp782Cys) n.2642G>C | |
2 | g.71564090G= | CA1260100654 | DYSF | c.2388G= (p.Trp796=) c.2442G= (p.Trp814=) c.2391G= (p.Trp797=) c.2439G= (p.Trp813=) c.2484G= (p.Trp828=) c.2349G= (p.Trp783=) c.2481G= (p.Trp827=) c.2346G= (p.Trp782=) n.2642G= | |
2 | g.71564090G>T | CA347211236 | DYSF | c.2388G>T (p.Trp796Cys) c.2442G>T (p.Trp814Cys) c.2391G>T (p.Trp797Cys) c.2439G>T (p.Trp813Cys) c.2484G>T (p.Trp828Cys) c.2349G>T (p.Trp783Cys) c.2481G>T (p.Trp827Cys) c.2346G>T (p.Trp782Cys) n.2642G>T | dbSNP |
2 | g.71564091A= | CA1260100658 | DYSF | c.2389A= (p.Met797=) c.2443A= (p.Met815=) c.2392A= (p.Met798=) c.2440A= (p.Met814=) c.2485A= (p.Met829=) c.2350A= (p.Met784=) c.2482A= (p.Met828=) c.2347A= (p.Met783=) n.2643A= | |
2 | g.71564091A>C | CA347211240 | DYSF | c.2389A>C (p.Met797Leu) c.2443A>C (p.Met815Leu) c.2392A>C (p.Met798Leu) c.2440A>C (p.Met814Leu) c.2485A>C (p.Met829Leu) c.2350A>C (p.Met784Leu) c.2482A>C (p.Met828Leu) c.2347A>C (p.Met783Leu) n.2643A>C | |
2 | g.71564091A>G | CA347211242 | DYSF | c.2389A>G (p.Met797Val) c.2443A>G (p.Met815Val) c.2392A>G (p.Met798Val) c.2440A>G (p.Met814Val) c.2485A>G (p.Met829Val) c.2350A>G (p.Met784Val) c.2482A>G (p.Met828Val) c.2347A>G (p.Met783Val) n.2643A>G | |
2 | g.71564091A>T | CA347211244 | DYSF | c.2389A>T (p.Met797Leu) c.2443A>T (p.Met815Leu) c.2392A>T (p.Met798Leu) c.2440A>T (p.Met814Leu) c.2485A>T (p.Met829Leu) c.2350A>T (p.Met784Leu) c.2482A>T (p.Met828Leu) c.2347A>T (p.Met783Leu) n.2643A>T | dbSNP |
2 | g.71564092T>A | CA347211247 | DYSF | c.2390T>A (p.Met797Lys) c.2444T>A (p.Met815Lys) c.2393T>A (p.Met798Lys) c.2441T>A (p.Met814Lys) c.2486T>A (p.Met829Lys) c.2351T>A (p.Met784Lys) c.2483T>A (p.Met828Lys) c.2348T>A (p.Met783Lys) n.2644T>A | ClinVar dbSNP |
2 | g.71564092T>C | CA347211249 | DYSF | c.2390T>C (p.Met797Thr) c.2444T>C (p.Met815Thr) c.2393T>C (p.Met798Thr) c.2441T>C (p.Met814Thr) c.2486T>C (p.Met829Thr) c.2351T>C (p.Met784Thr) c.2483T>C (p.Met828Thr) c.2348T>C (p.Met783Thr) n.2644T>C | |
2 | g.71564092T>G | CA347211251 | DYSF | c.2390T>G (p.Met797Arg) c.2444T>G (p.Met815Arg) c.2393T>G (p.Met798Arg) c.2441T>G (p.Met814Arg) c.2486T>G (p.Met829Arg) c.2351T>G (p.Met784Arg) c.2483T>G (p.Met828Arg) c.2348T>G (p.Met783Arg) n.2644T>G | |
2 | g.71564092T= | CA1260100662 | DYSF | c.2390T= (p.Met797=) c.2444T= (p.Met815=) c.2393T= (p.Met798=) c.2441T= (p.Met814=) c.2486T= (p.Met829=) c.2351T= (p.Met784=) c.2483T= (p.Met828=) c.2348T= (p.Met783=) n.2644T= | |
2 | g.71564093G>A | CA347211254 | DYSF | c.2391G>A (p.Met797Ile) c.2445G>A (p.Met815Ile) c.2394G>A (p.Met798Ile) c.2442G>A (p.Met814Ile) c.2487G>A (p.Met829Ile) c.2352G>A (p.Met784Ile) c.2484G>A (p.Met828Ile) c.2349G>A (p.Met783Ile) n.2645G>A | |
2 | g.71564093G>C | CA347211255 | DYSF | c.2391G>C (p.Met797Ile) c.2445G>C (p.Met815Ile) c.2394G>C (p.Met798Ile) c.2442G>C (p.Met814Ile) c.2487G>C (p.Met829Ile) c.2352G>C (p.Met784Ile) c.2484G>C (p.Met828Ile) c.2349G>C (p.Met783Ile) n.2645G>C | |
2 | g.71564093G>T | CA347211258 | DYSF | c.2391G>T (p.Met797Ile) c.2445G>T (p.Met815Ile) c.2394G>T (p.Met798Ile) c.2442G>T (p.Met814Ile) c.2487G>T (p.Met829Ile) c.2352G>T (p.Met784Ile) c.2484G>T (p.Met828Ile) c.2349G>T (p.Met783Ile) n.2645G>T | |
2 | g.71564094C>A | CA347211260 | DYSF | c.2392C>A (p.Leu798Met) c.2446C>A (p.Leu816Met) c.2395C>A (p.Leu799Met) c.2443C>A (p.Leu815Met) c.2488C>A (p.Leu830Met) c.2353C>A (p.Leu785Met) c.2485C>A (p.Leu829Met) c.2350C>A (p.Leu784Met) n.2646C>A | |
2 | g.71564094C>G | CA347211262 | DYSF | c.2392C>G (p.Leu798Val) c.2446C>G (p.Leu816Val) c.2395C>G (p.Leu799Val) c.2443C>G (p.Leu815Val) c.2488C>G (p.Leu830Val) c.2353C>G (p.Leu785Val) c.2485C>G (p.Leu829Val) c.2350C>G (p.Leu784Val) n.2646C>G | |
2 | g.71564094C>T | CA426701671 | DYSF | c.2392C>T (p.Leu798=) c.2446C>T (p.Leu816=) c.2395C>T (p.Leu799=) c.2443C>T (p.Leu815=) c.2488C>T (p.Leu830=) c.2353C>T (p.Leu785=) c.2485C>T (p.Leu829=) c.2350C>T (p.Leu784=) n.2646C>T | |
2 | g.71564095T>A | CA347211266 | DYSF | c.2393T>A (p.Leu798Gln) c.2447T>A (p.Leu816Gln) c.2396T>A (p.Leu799Gln) c.2444T>A (p.Leu815Gln) c.2489T>A (p.Leu830Gln) c.2354T>A (p.Leu785Gln) c.2486T>A (p.Leu829Gln) c.2351T>A (p.Leu784Gln) n.2647T>A | |
2 | g.71564095T>C | CA347211263 | DYSF | c.2393T>C (p.Leu798Pro) c.2447T>C (p.Leu816Pro) c.2396T>C (p.Leu799Pro) c.2444T>C (p.Leu815Pro) c.2489T>C (p.Leu830Pro) c.2354T>C (p.Leu785Pro) c.2486T>C (p.Leu829Pro) c.2351T>C (p.Leu784Pro) n.2647T>C | |
2 | g.71564095T>G | CA347211264 | DYSF | c.2393T>G (p.Leu798Arg) c.2447T>G (p.Leu816Arg) c.2396T>G (p.Leu799Arg) c.2444T>G (p.Leu815Arg) c.2489T>G (p.Leu830Arg) c.2354T>G (p.Leu785Arg) c.2486T>G (p.Leu829Arg) c.2351T>G (p.Leu784Arg) n.2647T>G | |
2 | g.71564096G>A | CA426701672 | DYSF | c.2394G>A (p.Leu798=) c.2448G>A (p.Leu816=) c.2397G>A (p.Leu799=) c.2445G>A (p.Leu815=) c.2490G>A (p.Leu830=) c.2355G>A (p.Leu785=) c.2487G>A (p.Leu829=) c.2352G>A (p.Leu784=) n.2648G>A | |
2 | g.71564096G>C | CA426701673 | DYSF | c.2394G>C (p.Leu798=) c.2448G>C (p.Leu816=) c.2397G>C (p.Leu799=) c.2445G>C (p.Leu815=) c.2490G>C (p.Leu830=) c.2355G>C (p.Leu785=) c.2487G>C (p.Leu829=) c.2352G>C (p.Leu784=) n.2648G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564096G= | CA1260100663 | DYSF | c.2394G= (p.Leu798=) c.2448G= (p.Leu816=) c.2397G= (p.Leu799=) c.2445G= (p.Leu815=) c.2490G= (p.Leu830=) c.2355G= (p.Leu785=) c.2487G= (p.Leu829=) c.2352G= (p.Leu784=) n.2648G= | |
2 | g.71564096G>T | CA426701674 | DYSF | c.2394G>T (p.Leu798=) c.2448G>T (p.Leu816=) c.2397G>T (p.Leu799=) c.2445G>T (p.Leu815=) c.2490G>T (p.Leu830=) c.2355G>T (p.Leu785=) c.2487G>T (p.Leu829=) c.2352G>T (p.Leu784=) n.2648G>T | gnomAD v4 |
2 | g.71564097C>A | CA347211268 | DYSF | c.2395C>A (p.Gln799Lys) c.2449C>A (p.Gln817Lys) c.2398C>A (p.Gln800Lys) c.2446C>A (p.Gln816Lys) c.2491C>A (p.Gln831Lys) c.2356C>A (p.Gln786Lys) c.2488C>A (p.Gln830Lys) c.2353C>A (p.Gln785Lys) n.2649C>A | |
2 | g.71564097C>G | CA347211270 | DYSF | c.2395C>G (p.Gln799Glu) c.2449C>G (p.Gln817Glu) c.2398C>G (p.Gln800Glu) c.2446C>G (p.Gln816Glu) c.2491C>G (p.Gln831Glu) c.2356C>G (p.Gln786Glu) c.2488C>G (p.Gln830Glu) c.2353C>G (p.Gln785Glu) n.2649C>G | |
2 | g.71564097C>T | CA347211272 | DYSF | c.2395C>T (p.Gln799Ter) c.2449C>T (p.Gln817Ter) c.2398C>T (p.Gln800Ter) c.2446C>T (p.Gln816Ter) c.2491C>T (p.Gln831Ter) c.2356C>T (p.Gln786Ter) c.2488C>T (p.Gln830Ter) c.2353C>T (p.Gln785Ter) n.2649C>T | |
2 | g.71564098A>C | CA347211274 | DYSF | c.2396A>C (p.Gln799Pro) c.2450A>C (p.Gln817Pro) c.2399A>C (p.Gln800Pro) c.2447A>C (p.Gln816Pro) c.2492A>C (p.Gln831Pro) c.2357A>C (p.Gln786Pro) c.2489A>C (p.Gln830Pro) c.2354A>C (p.Gln785Pro) n.2650A>C | |
2 | g.71564098A>G | CA347211276 | DYSF | c.2396A>G (p.Gln799Arg) c.2450A>G (p.Gln817Arg) c.2399A>G (p.Gln800Arg) c.2447A>G (p.Gln816Arg) c.2492A>G (p.Gln831Arg) c.2357A>G (p.Gln786Arg) c.2489A>G (p.Gln830Arg) c.2354A>G (p.Gln785Arg) n.2650A>G | ClinVar |
2 | g.71564098A>T | CA347211279 | DYSF | c.2396A>T (p.Gln799Leu) c.2450A>T (p.Gln817Leu) c.2399A>T (p.Gln800Leu) c.2447A>T (p.Gln816Leu) c.2492A>T (p.Gln831Leu) c.2357A>T (p.Gln786Leu) c.2489A>T (p.Gln830Leu) c.2354A>T (p.Gln785Leu) n.2650A>T | |
2 | g.71564099G>A | CA426701675 | DYSF | c.2397G>A (p.Gln799=) c.2451G>A (p.Gln817=) c.2400G>A (p.Gln800=) c.2448G>A (p.Gln816=) c.2493G>A (p.Gln831=) c.2358G>A (p.Gln786=) c.2490G>A (p.Gln830=) c.2355G>A (p.Gln785=) n.2651G>A | COSMIC COSMIC |
2 | g.71564099G>C | CA347211281 | DYSF | c.2397G>C (p.Gln799His) c.2451G>C (p.Gln817His) c.2400G>C (p.Gln800His) c.2448G>C (p.Gln816His) c.2493G>C (p.Gln831His) c.2358G>C (p.Gln786His) c.2490G>C (p.Gln830His) c.2355G>C (p.Gln785His) n.2651G>C | |
2 | g.71564099G>T | CA347211283 | DYSF | c.2397G>T (p.Gln799His) c.2451G>T (p.Gln817His) c.2400G>T (p.Gln800His) c.2448G>T (p.Gln816His) c.2493G>T (p.Gln831His) c.2358G>T (p.Gln786His) c.2490G>T (p.Gln830His) c.2355G>T (p.Gln785His) n.2651G>T | |
2 | g.71564100G>A | CA347211285 | DYSF | c.2398G>A (p.Gly800Arg) c.2452G>A (p.Gly818Arg) c.2401G>A (p.Gly801Arg) c.2449G>A (p.Gly817Arg) c.2494G>A (p.Gly832Arg) c.2359G>A (p.Gly787Arg) c.2491G>A (p.Gly831Arg) c.2356G>A (p.Gly786Arg) n.2652G>A | |
2 | g.71564100G>C | CA347211287 | DYSF | c.2398G>C (p.Gly800Arg) c.2452G>C (p.Gly818Arg) c.2401G>C (p.Gly801Arg) c.2449G>C (p.Gly817Arg) c.2494G>C (p.Gly832Arg) c.2359G>C (p.Gly787Arg) c.2491G>C (p.Gly831Arg) c.2356G>C (p.Gly786Arg) n.2652G>C | |
2 | g.71564100G>T | CA347211289 | DYSF | c.2398G>T (p.Gly800Ter) c.2452G>T (p.Gly818Ter) c.2401G>T (p.Gly801Ter) c.2449G>T (p.Gly817Ter) c.2494G>T (p.Gly832Ter) c.2359G>T (p.Gly787Ter) c.2491G>T (p.Gly831Ter) c.2356G>T (p.Gly786Ter) n.2652G>T | |
2 | g.71564101G>A | CA347211292 | DYSF | c.2399G>A (p.Gly800Glu) c.2453G>A (p.Gly818Glu) c.2402G>A (p.Gly801Glu) c.2450G>A (p.Gly817Glu) c.2495G>A (p.Gly832Glu) c.2360G>A (p.Gly787Glu) c.2492G>A (p.Gly831Glu) c.2357G>A (p.Gly786Glu) n.2653G>A | |
2 | g.71564101G>C | CA347211294 | DYSF | c.2399G>C (p.Gly800Ala) c.2453G>C (p.Gly818Ala) c.2402G>C (p.Gly801Ala) c.2450G>C (p.Gly817Ala) c.2495G>C (p.Gly832Ala) c.2360G>C (p.Gly787Ala) c.2492G>C (p.Gly831Ala) c.2357G>C (p.Gly786Ala) n.2653G>C | |
2 | g.71564101G= | CA1260100667 | DYSF | c.2399G= (p.Gly800=) c.2453G= (p.Gly818=) c.2402G= (p.Gly801=) c.2450G= (p.Gly817=) c.2495G= (p.Gly832=) c.2360G= (p.Gly787=) c.2492G= (p.Gly831=) c.2357G= (p.Gly786=) n.2653G= | |
2 | g.71564101G>T | CA347211290 | DYSF | c.2399G>T (p.Gly800Val) c.2453G>T (p.Gly818Val) c.2402G>T (p.Gly801Val) c.2450G>T (p.Gly817Val) c.2495G>T (p.Gly832Val) c.2360G>T (p.Gly787Val) c.2492G>T (p.Gly831Val) c.2357G>T (p.Gly786Val) n.2653G>T | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.71564102A>C | CA426701676 | DYSF | c.2400A>C (p.Gly800=) c.2454A>C (p.Gly818=) c.2403A>C (p.Gly801=) c.2451A>C (p.Gly817=) c.2496A>C (p.Gly832=) c.2361A>C (p.Gly787=) c.2493A>C (p.Gly831=) c.2358A>C (p.Gly786=) n.2654A>C | |
2 | g.71564102A>G | CA426701677 | DYSF | c.2400A>G (p.Gly800=) c.2454A>G (p.Gly818=) c.2403A>G (p.Gly801=) c.2451A>G (p.Gly817=) c.2496A>G (p.Gly832=) c.2361A>G (p.Gly787=) c.2493A>G (p.Gly831=) c.2358A>G (p.Gly786=) n.2654A>G | |
2 | g.71564102A>T | CA426701678 | DYSF | c.2400A>T (p.Gly800=) c.2454A>T (p.Gly818=) c.2403A>T (p.Gly801=) c.2451A>T (p.Gly817=) c.2496A>T (p.Gly832=) c.2361A>T (p.Gly787=) c.2493A>T (p.Gly831=) c.2358A>T (p.Gly786=) n.2654A>T | ClinVar |
2 | g.71564103G>A | CA347211297 | DYSF | c.2401G>A (p.Asp801Asn) c.2455G>A (p.Asp819Asn) c.2404G>A (p.Asp802Asn) c.2452G>A (p.Asp818Asn) c.2497G>A (p.Asp833Asn) c.2362G>A (p.Asp788Asn) c.2494G>A (p.Asp832Asn) c.2359G>A (p.Asp787Asn) n.2655G>A | |
2 | g.71564103G>C | CA347211299 | DYSF | c.2401G>C (p.Asp801His) c.2455G>C (p.Asp819His) c.2404G>C (p.Asp802His) c.2452G>C (p.Asp818His) c.2497G>C (p.Asp833His) c.2362G>C (p.Asp788His) c.2494G>C (p.Asp832His) c.2359G>C (p.Asp787His) n.2655G>C | gnomAD v4 |
2 | g.71564103G>T | CA347211301 | DYSF | c.2401G>T (p.Asp801Tyr) c.2455G>T (p.Asp819Tyr) c.2404G>T (p.Asp802Tyr) c.2452G>T (p.Asp818Tyr) c.2497G>T (p.Asp833Tyr) c.2362G>T (p.Asp788Tyr) c.2494G>T (p.Asp832Tyr) c.2359G>T (p.Asp787Tyr) n.2655G>T | |
2 | g.71564104A= | CA1260100671 | DYSF | c.2402A= (p.Asp801=) c.2456A= (p.Asp819=) c.2405A= (p.Asp802=) c.2453A= (p.Asp818=) c.2498A= (p.Asp833=) c.2363A= (p.Asp788=) c.2495A= (p.Asp832=) c.2360A= (p.Asp787=) n.2656A= | |
2 | g.71564104A>C | CA347211304 | DYSF | c.2402A>C (p.Asp801Ala) c.2456A>C (p.Asp819Ala) c.2405A>C (p.Asp802Ala) c.2453A>C (p.Asp818Ala) c.2498A>C (p.Asp833Ala) c.2363A>C (p.Asp788Ala) c.2495A>C (p.Asp832Ala) c.2360A>C (p.Asp787Ala) n.2656A>C | |
2 | g.71564104A>G | CA347211306 | DYSF | c.2402A>G (p.Asp801Gly) c.2456A>G (p.Asp819Gly) c.2405A>G (p.Asp802Gly) c.2453A>G (p.Asp818Gly) c.2498A>G (p.Asp833Gly) c.2363A>G (p.Asp788Gly) c.2495A>G (p.Asp832Gly) c.2360A>G (p.Asp787Gly) n.2656A>G | dbSNP COSMIC COSMIC |
2 | g.71564104A>T | CA347211308 | DYSF | c.2402A>T (p.Asp801Val) c.2456A>T (p.Asp819Val) c.2405A>T (p.Asp802Val) c.2453A>T (p.Asp818Val) c.2498A>T (p.Asp833Val) c.2363A>T (p.Asp788Val) c.2495A>T (p.Asp832Val) c.2360A>T (p.Asp787Val) n.2656A>T | |
2 | g.71564105C>A | CA347211312 | DYSF | c.2403C>A (p.Asp801Glu) c.2457C>A (p.Asp819Glu) c.2406C>A (p.Asp802Glu) c.2454C>A (p.Asp818Glu) c.2499C>A (p.Asp833Glu) c.2364C>A (p.Asp788Glu) c.2496C>A (p.Asp832Glu) c.2361C>A (p.Asp787Glu) n.2657C>A | |
2 | g.71564105C>G | CA347211310 | DYSF | c.2403C>G (p.Asp801Glu) c.2457C>G (p.Asp819Glu) c.2406C>G (p.Asp802Glu) c.2454C>G (p.Asp818Glu) c.2499C>G (p.Asp833Glu) c.2364C>G (p.Asp788Glu) c.2496C>G (p.Asp832Glu) c.2361C>G (p.Asp787Glu) n.2657C>G | |
2 | g.71564105C>T | CA426701679 | DYSF | c.2403C>T (p.Asp801=) c.2457C>T (p.Asp819=) c.2406C>T (p.Asp802=) c.2454C>T (p.Asp818=) c.2499C>T (p.Asp833=) c.2364C>T (p.Asp788=) c.2496C>T (p.Asp832=) c.2361C>T (p.Asp787=) n.2657C>T | |
2 | g.71564106A= | CA1260100675 | DYSF | c.2404A= (p.Lys802=) c.2458A= (p.Lys820=) c.2407A= (p.Lys803=) c.2455A= (p.Lys819=) c.2500A= (p.Lys834=) c.2365A= (p.Lys789=) c.2497A= (p.Lys833=) c.2362A= (p.Lys788=) n.2658A= | |
2 | g.71564106A>C | CA347211315 | DYSF | c.2404A>C (p.Lys802Gln) c.2458A>C (p.Lys820Gln) c.2407A>C (p.Lys803Gln) c.2455A>C (p.Lys819Gln) c.2500A>C (p.Lys834Gln) c.2365A>C (p.Lys789Gln) c.2497A>C (p.Lys833Gln) c.2362A>C (p.Lys788Gln) n.2658A>C | |
2 | g.71564106A>G | CA347211317 | DYSF | c.2404A>G (p.Lys802Glu) c.2458A>G (p.Lys820Glu) c.2407A>G (p.Lys803Glu) c.2455A>G (p.Lys819Glu) c.2500A>G (p.Lys834Glu) c.2365A>G (p.Lys789Glu) c.2497A>G (p.Lys833Glu) c.2362A>G (p.Lys788Glu) n.2658A>G | |
2 | g.71564106A>T | CA347211319 | DYSF | c.2404A>T (p.Lys802Ter) c.2458A>T (p.Lys820Ter) c.2407A>T (p.Lys803Ter) c.2455A>T (p.Lys819Ter) c.2500A>T (p.Lys834Ter) c.2365A>T (p.Lys789Ter) c.2497A>T (p.Lys833Ter) c.2362A>T (p.Lys788Ter) n.2658A>T | |
2 | g.71564107dup | CA913090743 | DYSF | c.2405dup (p.Arg803AlafsTer?) c.2459dup (p.Arg821AlafsTer?) c.2408dup (p.Arg804AlafsTer?) c.2456dup (p.Arg820AlafsTer?) c.2501dup (p.Arg835AlafsTer?) c.2366dup (p.Arg790AlafsTer?) c.2498dup (p.Arg834AlafsTer?) c.2363dup (p.Arg789AlafsTer?) n.2659dup | |
2 | g.71564107A>C | CA347211320 | DYSF | c.2405A>C (p.Lys802Thr) c.2459A>C (p.Lys820Thr) c.2408A>C (p.Lys803Thr) c.2456A>C (p.Lys819Thr) c.2501A>C (p.Lys834Thr) c.2366A>C (p.Lys789Thr) c.2498A>C (p.Lys833Thr) c.2363A>C (p.Lys788Thr) n.2659A>C | |
2 | g.71564107A>G | CA347211321 | DYSF | c.2405A>G (p.Lys802Arg) c.2459A>G (p.Lys820Arg) c.2408A>G (p.Lys803Arg) c.2456A>G (p.Lys819Arg) c.2501A>G (p.Lys834Arg) c.2366A>G (p.Lys789Arg) c.2498A>G (p.Lys833Arg) c.2363A>G (p.Lys788Arg) n.2659A>G | |
2 | g.71564107A>T | CA347211322 | DYSF | c.2405A>T (p.Lys802Met) c.2459A>T (p.Lys820Met) c.2408A>T (p.Lys803Met) c.2456A>T (p.Lys819Met) c.2501A>T (p.Lys834Met) c.2366A>T (p.Lys789Met) c.2498A>T (p.Lys833Met) c.2363A>T (p.Lys788Met) n.2659A>T | |
2 | g.71564111_71564125dup | CA533258110 | DYSF | c.2409_2423dup (p.Arg808_Val809insValAlaTyrGlnArg) c.2463_2477dup (p.Arg826_Val827insValAlaTyrGlnArg) c.2412_2426dup (p.Arg809_Val810insValAlaTyrGlnArg) c.2460_2474dup (p.Arg825_Val826insValAlaTyrGlnArg) c.2505_2519dup (p.Arg840_Val841insValAlaTyrGlnArg) c.2370_2384dup (p.Arg795_Val796insValAlaTyrGlnArg) c.2502_2516dup (p.Arg839_Val840insValAlaTyrGlnArg) c.2367_2381dup (p.Arg794_Val795insValAlaTyrGlnArg) n.2663_2677dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564108G>A | CA1706179 | DYSF | c.2406G>A (p.Lys802=) c.2460G>A (p.Lys820=) c.2409G>A (p.Lys803=) c.2457G>A (p.Lys819=) c.2502G>A (p.Lys834=) c.2367G>A (p.Lys789=) c.2499G>A (p.Lys833=) c.2364G>A (p.Lys788=) n.2660G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564108G>C | CA347211324 | DYSF | c.2406G>C (p.Lys802Asn) c.2460G>C (p.Lys820Asn) c.2409G>C (p.Lys803Asn) c.2457G>C (p.Lys819Asn) c.2502G>C (p.Lys834Asn) c.2367G>C (p.Lys789Asn) c.2499G>C (p.Lys833Asn) c.2364G>C (p.Lys788Asn) n.2660G>C | |
2 | g.71564108G= | CA1260100685 | DYSF | c.2406G= (p.Lys802=) c.2460G= (p.Lys820=) c.2409G= (p.Lys803=) c.2457G= (p.Lys819=) c.2502G= (p.Lys834=) c.2367G= (p.Lys789=) c.2499G= (p.Lys833=) c.2364G= (p.Lys788=) n.2660G= | |
2 | g.71564108G>T | CA347211323 | DYSF | c.2406G>T (p.Lys802Asn) c.2460G>T (p.Lys820Asn) c.2409G>T (p.Lys803Asn) c.2457G>T (p.Lys819Asn) c.2502G>T (p.Lys834Asn) c.2367G>T (p.Lys789Asn) c.2499G>T (p.Lys833Asn) c.2364G>T (p.Lys788Asn) n.2660G>T | dbSNP |
2 | g.71564109C>A | CA347211325 | DYSF | c.2407C>A (p.Arg803Ser) c.2461C>A (p.Arg821Ser) c.2410C>A (p.Arg804Ser) c.2458C>A (p.Arg820Ser) c.2503C>A (p.Arg835Ser) c.2368C>A (p.Arg790Ser) c.2500C>A (p.Arg834Ser) c.2365C>A (p.Arg789Ser) n.2661C>A | gnomAD v4 |
2 | g.71564109C= | CA1260100691 | DYSF | c.2407C= (p.Arg803=) c.2461C= (p.Arg821=) c.2410C= (p.Arg804=) c.2458C= (p.Arg820=) c.2503C= (p.Arg835=) c.2368C= (p.Arg790=) c.2500C= (p.Arg834=) c.2365C= (p.Arg789=) n.2661C= | |
2 | g.71564109C>G | CA347211326 | DYSF | c.2407C>G (p.Arg803Gly) c.2461C>G (p.Arg821Gly) c.2410C>G (p.Arg804Gly) c.2458C>G (p.Arg820Gly) c.2503C>G (p.Arg835Gly) c.2368C>G (p.Arg790Gly) c.2500C>G (p.Arg834Gly) c.2365C>G (p.Arg789Gly) n.2661C>G | |
2 | g.71564109C>T | CA1706180 | DYSF | c.2407C>T (p.Arg803Cys) c.2461C>T (p.Arg821Cys) c.2410C>T (p.Arg804Cys) c.2458C>T (p.Arg820Cys) c.2503C>T (p.Arg835Cys) c.2368C>T (p.Arg790Cys) c.2500C>T (p.Arg834Cys) c.2365C>T (p.Arg789Cys) n.2661C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564110G>A | CA1706181 | DYSF | c.2408G>A (p.Arg803His) c.2462G>A (p.Arg821His) c.2411G>A (p.Arg804His) c.2459G>A (p.Arg820His) c.2504G>A (p.Arg835His) c.2369G>A (p.Arg790His) c.2501G>A (p.Arg834His) c.2366G>A (p.Arg789His) n.2662G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564110G>C | CA347211327 | DYSF | c.2408G>C (p.Arg803Pro) c.2462G>C (p.Arg821Pro) c.2411G>C (p.Arg804Pro) c.2459G>C (p.Arg820Pro) c.2504G>C (p.Arg835Pro) c.2369G>C (p.Arg790Pro) c.2501G>C (p.Arg834Pro) c.2366G>C (p.Arg789Pro) n.2662G>C | COSMIC COSMIC |
2 | g.71564110G= | CA1260100698 | DYSF | c.2408G= (p.Arg803=) c.2462G= (p.Arg821=) c.2411G= (p.Arg804=) c.2459G= (p.Arg820=) c.2504G= (p.Arg835=) c.2369G= (p.Arg790=) c.2501G= (p.Arg834=) c.2366G= (p.Arg789=) n.2662G= | |
2 | g.71564110G>T | CA347211328 | DYSF | c.2408G>T (p.Arg803Leu) c.2462G>T (p.Arg821Leu) c.2411G>T (p.Arg804Leu) c.2459G>T (p.Arg820Leu) c.2504G>T (p.Arg835Leu) c.2369G>T (p.Arg790Leu) c.2501G>T (p.Arg834Leu) c.2366G>T (p.Arg789Leu) n.2662G>T | |
2 | g.71564111T>A | CA426701680 | DYSF | c.2409T>A (p.Arg803=) c.2463T>A (p.Arg821=) c.2412T>A (p.Arg804=) c.2460T>A (p.Arg820=) c.2505T>A (p.Arg835=) c.2370T>A (p.Arg790=) c.2502T>A (p.Arg834=) c.2367T>A (p.Arg789=) n.2663T>A | |
2 | g.71564111T>C | CA426701681 | DYSF | c.2409T>C (p.Arg803=) c.2463T>C (p.Arg821=) c.2412T>C (p.Arg804=) c.2460T>C (p.Arg820=) c.2505T>C (p.Arg835=) c.2370T>C (p.Arg790=) c.2502T>C (p.Arg834=) c.2367T>C (p.Arg789=) n.2663T>C | |
2 | g.71564111T>G | CA426701682 | DYSF | c.2409T>G (p.Arg803=) c.2463T>G (p.Arg821=) c.2412T>G (p.Arg804=) c.2460T>G (p.Arg820=) c.2505T>G (p.Arg835=) c.2370T>G (p.Arg790=) c.2502T>G (p.Arg834=) c.2367T>G (p.Arg789=) n.2663T>G | |
2 | g.71564112G>A | CA347211329 | DYSF | c.2410G>A (p.Val804Met) c.2464G>A (p.Val822Met) c.2413G>A (p.Val805Met) c.2461G>A (p.Val821Met) c.2506G>A (p.Val836Met) c.2371G>A (p.Val791Met) c.2503G>A (p.Val835Met) c.2368G>A (p.Val790Met) n.2664G>A | |
2 | g.71564112G>C | CA347211330 | DYSF | c.2410G>C (p.Val804Leu) c.2464G>C (p.Val822Leu) c.2413G>C (p.Val805Leu) c.2461G>C (p.Val821Leu) c.2506G>C (p.Val836Leu) c.2371G>C (p.Val791Leu) c.2503G>C (p.Val835Leu) c.2368G>C (p.Val790Leu) n.2664G>C | |
2 | g.71564112G>T | CA347211331 | DYSF | c.2410G>T (p.Val804Leu) c.2464G>T (p.Val822Leu) c.2413G>T (p.Val805Leu) c.2461G>T (p.Val821Leu) c.2506G>T (p.Val836Leu) c.2371G>T (p.Val791Leu) c.2503G>T (p.Val835Leu) c.2368G>T (p.Val790Leu) n.2664G>T | |
2 | g.71564113T>A | CA347211332 | DYSF | c.2411T>A (p.Val804Glu) c.2465T>A (p.Val822Glu) c.2414T>A (p.Val805Glu) c.2462T>A (p.Val821Glu) c.2507T>A (p.Val836Glu) c.2372T>A (p.Val791Glu) c.2504T>A (p.Val835Glu) c.2369T>A (p.Val790Glu) n.2665T>A | |
2 | g.71564113T>C | CA347211333 | DYSF | c.2411T>C (p.Val804Ala) c.2465T>C (p.Val822Ala) c.2414T>C (p.Val805Ala) c.2462T>C (p.Val821Ala) c.2507T>C (p.Val836Ala) c.2372T>C (p.Val791Ala) c.2504T>C (p.Val835Ala) c.2369T>C (p.Val790Ala) n.2665T>C | |
2 | g.71564113T>G | CA347211334 | DYSF | c.2411T>G (p.Val804Gly) c.2465T>G (p.Val822Gly) c.2414T>G (p.Val805Gly) c.2462T>G (p.Val821Gly) c.2507T>G (p.Val836Gly) c.2372T>G (p.Val791Gly) c.2504T>G (p.Val835Gly) c.2369T>G (p.Val790Gly) n.2665T>G | |
2 | g.71564114G>A | CA426701685 | DYSF | c.2412G>A (p.Val804=) c.2466G>A (p.Val822=) c.2415G>A (p.Val805=) c.2463G>A (p.Val821=) c.2508G>A (p.Val836=) c.2373G>A (p.Val791=) c.2505G>A (p.Val835=) c.2370G>A (p.Val790=) n.2666G>A | |
2 | g.71564114G>C | CA426701684 | DYSF | c.2412G>C (p.Val804=) c.2466G>C (p.Val822=) c.2415G>C (p.Val805=) c.2463G>C (p.Val821=) c.2508G>C (p.Val836=) c.2373G>C (p.Val791=) c.2505G>C (p.Val835=) c.2370G>C (p.Val790=) n.2666G>C | |
2 | g.71564114G>T | CA426701683 | DYSF | c.2412G>T (p.Val804=) c.2466G>T (p.Val822=) c.2415G>T (p.Val805=) c.2463G>T (p.Val821=) c.2508G>T (p.Val836=) c.2373G>T (p.Val791=) c.2505G>T (p.Val835=) c.2370G>T (p.Val790=) n.2666G>T | |
2 | g.71564115G>A | CA347211336 | DYSF | c.2413G>A (p.Ala805Thr) c.2467G>A (p.Ala823Thr) c.2416G>A (p.Ala806Thr) c.2464G>A (p.Ala822Thr) c.2509G>A (p.Ala837Thr) c.2374G>A (p.Ala792Thr) c.2506G>A (p.Ala836Thr) c.2371G>A (p.Ala791Thr) n.2667G>A | |
2 | g.71564115G>C | CA347211337 | DYSF | c.2413G>C (p.Ala805Pro) c.2467G>C (p.Ala823Pro) c.2416G>C (p.Ala806Pro) c.2464G>C (p.Ala822Pro) c.2509G>C (p.Ala837Pro) c.2374G>C (p.Ala792Pro) c.2506G>C (p.Ala836Pro) c.2371G>C (p.Ala791Pro) n.2667G>C | |
2 | g.71564115G>T | CA347211335 | DYSF | c.2413G>T (p.Ala805Ser) c.2467G>T (p.Ala823Ser) c.2416G>T (p.Ala806Ser) c.2464G>T (p.Ala822Ser) c.2509G>T (p.Ala837Ser) c.2374G>T (p.Ala792Ser) c.2506G>T (p.Ala836Ser) c.2371G>T (p.Ala791Ser) n.2667G>T | |
2 | g.71564116C>A | CA347211338 | DYSF | c.2414C>A (p.Ala805Glu) c.2468C>A (p.Ala823Glu) c.2417C>A (p.Ala806Glu) c.2465C>A (p.Ala822Glu) c.2510C>A (p.Ala837Glu) c.2375C>A (p.Ala792Glu) c.2507C>A (p.Ala836Glu) c.2372C>A (p.Ala791Glu) n.2668C>A | gnomAD v4 |
2 | g.71564116C>G | CA347211340 | DYSF | c.2414C>G (p.Ala805Gly) c.2468C>G (p.Ala823Gly) c.2417C>G (p.Ala806Gly) c.2465C>G (p.Ala822Gly) c.2510C>G (p.Ala837Gly) c.2375C>G (p.Ala792Gly) c.2507C>G (p.Ala836Gly) c.2372C>G (p.Ala791Gly) n.2668C>G | |
2 | g.71564116C>T | CA347211339 | DYSF | c.2414C>T (p.Ala805Val) c.2468C>T (p.Ala823Val) c.2417C>T (p.Ala806Val) c.2465C>T (p.Ala822Val) c.2510C>T (p.Ala837Val) c.2375C>T (p.Ala792Val) c.2507C>T (p.Ala836Val) c.2372C>T (p.Ala791Val) n.2668C>T | |
2 | g.71564117A>C | CA426701686 | DYSF | c.2415A>C (p.Ala805=) c.2469A>C (p.Ala823=) c.2418A>C (p.Ala806=) c.2466A>C (p.Ala822=) c.2511A>C (p.Ala837=) c.2376A>C (p.Ala792=) c.2508A>C (p.Ala836=) c.2373A>C (p.Ala791=) n.2669A>C | |
2 | g.71564117A>G | CA426701687 | DYSF | c.2415A>G (p.Ala805=) c.2469A>G (p.Ala823=) c.2418A>G (p.Ala806=) c.2466A>G (p.Ala822=) c.2511A>G (p.Ala837=) c.2376A>G (p.Ala792=) c.2508A>G (p.Ala836=) c.2373A>G (p.Ala791=) n.2669A>G | |
2 | g.71564117A>T | CA426701688 | DYSF | c.2415A>T (p.Ala805=) c.2469A>T (p.Ala823=) c.2418A>T (p.Ala806=) c.2466A>T (p.Ala822=) c.2511A>T (p.Ala837=) c.2376A>T (p.Ala792=) c.2508A>T (p.Ala836=) c.2373A>T (p.Ala791=) n.2669A>T | |
2 | g.71564118T>A | CA347211341 | DYSF | c.2416T>A (p.Tyr806Asn) c.2470T>A (p.Tyr824Asn) c.2419T>A (p.Tyr807Asn) c.2467T>A (p.Tyr823Asn) c.2512T>A (p.Tyr838Asn) c.2377T>A (p.Tyr793Asn) c.2509T>A (p.Tyr837Asn) c.2374T>A (p.Tyr792Asn) n.2670T>A | |
2 | g.71564118T>C | CA347211343 | DYSF | c.2416T>C (p.Tyr806His) c.2470T>C (p.Tyr824His) c.2419T>C (p.Tyr807His) c.2467T>C (p.Tyr823His) c.2512T>C (p.Tyr838His) c.2377T>C (p.Tyr793His) c.2509T>C (p.Tyr837His) c.2374T>C (p.Tyr792His) n.2670T>C | gnomAD v4 |
2 | g.71564118T>G | CA347211342 | DYSF | c.2416T>G (p.Tyr806Asp) c.2470T>G (p.Tyr824Asp) c.2419T>G (p.Tyr807Asp) c.2467T>G (p.Tyr823Asp) c.2512T>G (p.Tyr838Asp) c.2377T>G (p.Tyr793Asp) c.2509T>G (p.Tyr837Asp) c.2374T>G (p.Tyr792Asp) n.2670T>G | |
2 | g.71564119A= | CA1260100704 | DYSF | c.2417A= (p.Tyr806=) c.2471A= (p.Tyr824=) c.2420A= (p.Tyr807=) c.2468A= (p.Tyr823=) c.2513A= (p.Tyr838=) c.2378A= (p.Tyr793=) c.2510A= (p.Tyr837=) c.2375A= (p.Tyr792=) n.2671A= | |
2 | g.71564119A>C | CA347211344 | DYSF | c.2417A>C (p.Tyr806Ser) c.2471A>C (p.Tyr824Ser) c.2420A>C (p.Tyr807Ser) c.2468A>C (p.Tyr823Ser) c.2513A>C (p.Tyr838Ser) c.2378A>C (p.Tyr793Ser) c.2510A>C (p.Tyr837Ser) c.2375A>C (p.Tyr792Ser) n.2671A>C | dbSNP |
2 | g.71564119A>G | CA347211346 | DYSF | c.2417A>G (p.Tyr806Cys) c.2471A>G (p.Tyr824Cys) c.2420A>G (p.Tyr807Cys) c.2468A>G (p.Tyr823Cys) c.2513A>G (p.Tyr838Cys) c.2378A>G (p.Tyr793Cys) c.2510A>G (p.Tyr837Cys) c.2375A>G (p.Tyr792Cys) n.2671A>G | gnomAD v4 |
2 | g.71564119A>T | CA347211345 | DYSF | c.2417A>T (p.Tyr806Phe) c.2471A>T (p.Tyr824Phe) c.2420A>T (p.Tyr807Phe) c.2468A>T (p.Tyr823Phe) c.2513A>T (p.Tyr838Phe) c.2378A>T (p.Tyr793Phe) c.2510A>T (p.Tyr837Phe) c.2375A>T (p.Tyr792Phe) n.2671A>T | |
2 | g.71564120C>A | CA347211347 | DYSF | c.2418C>A (p.Tyr806Ter) c.2472C>A (p.Tyr824Ter) c.2421C>A (p.Tyr807Ter) c.2469C>A (p.Tyr823Ter) c.2514C>A (p.Tyr838Ter) c.2379C>A (p.Tyr793Ter) c.2511C>A (p.Tyr837Ter) c.2376C>A (p.Tyr792Ter) n.2672C>A | ClinVar |
2 | g.71564120C= | CA1260100705 | DYSF | c.2418C= (p.Tyr806=) c.2472C= (p.Tyr824=) c.2421C= (p.Tyr807=) c.2469C= (p.Tyr823=) c.2514C= (p.Tyr838=) c.2379C= (p.Tyr793=) c.2511C= (p.Tyr837=) c.2376C= (p.Tyr792=) n.2672C= | |
2 | g.71564120C>G | CA347211348 | DYSF | c.2418C>G (p.Tyr806Ter) c.2472C>G (p.Tyr824Ter) c.2421C>G (p.Tyr807Ter) c.2469C>G (p.Tyr823Ter) c.2514C>G (p.Tyr838Ter) c.2379C>G (p.Tyr793Ter) c.2511C>G (p.Tyr837Ter) c.2376C>G (p.Tyr792Ter) n.2672C>G | |
2 | g.71564120C>T | CA1706182 | DYSF | c.2418C>T (p.Tyr806=) c.2472C>T (p.Tyr824=) c.2421C>T (p.Tyr807=) c.2469C>T (p.Tyr823=) c.2514C>T (p.Tyr838=) c.2379C>T (p.Tyr793=) c.2511C>T (p.Tyr837=) c.2376C>T (p.Tyr792=) n.2672C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.71564121C>A | CA347211349 | DYSF | c.2419C>A (p.Gln807Lys) c.2473C>A (p.Gln825Lys) c.2422C>A (p.Gln808Lys) c.2470C>A (p.Gln824Lys) c.2515C>A (p.Gln839Lys) c.2380C>A (p.Gln794Lys) c.2512C>A (p.Gln838Lys) c.2377C>A (p.Gln793Lys) n.2673C>A | |
2 | g.71564121C= | CA1260100708 | DYSF | c.2419C= (p.Gln807=) c.2473C= (p.Gln825=) c.2422C= (p.Gln808=) c.2470C= (p.Gln824=) c.2515C= (p.Gln839=) c.2380C= (p.Gln794=) c.2512C= (p.Gln838=) c.2377C= (p.Gln793=) n.2673C= | |
2 | g.71564121C>G | CA347211351 | DYSF | c.2419C>G (p.Gln807Glu) c.2473C>G (p.Gln825Glu) c.2422C>G (p.Gln808Glu) c.2470C>G (p.Gln824Glu) c.2515C>G (p.Gln839Glu) c.2380C>G (p.Gln794Glu) c.2512C>G (p.Gln838Glu) c.2377C>G (p.Gln793Glu) n.2673C>G | |
2 | g.71564121C>T | CA347211350 | DYSF | c.2419C>T (p.Gln807Ter) c.2473C>T (p.Gln825Ter) c.2422C>T (p.Gln808Ter) c.2470C>T (p.Gln824Ter) c.2515C>T (p.Gln839Ter) c.2380C>T (p.Gln794Ter) c.2512C>T (p.Gln838Ter) c.2377C>T (p.Gln793Ter) n.2673C>T | ClinVar dbSNP |
2 | g.71564122A>C | CA347211352 | DYSF | c.2420A>C (p.Gln807Pro) c.2474A>C (p.Gln825Pro) c.2423A>C (p.Gln808Pro) c.2471A>C (p.Gln824Pro) c.2516A>C (p.Gln839Pro) c.2381A>C (p.Gln794Pro) c.2513A>C (p.Gln838Pro) c.2378A>C (p.Gln793Pro) n.2674A>C | |
2 | g.71564122A>G | CA347211353 | DYSF | c.2420A>G (p.Gln807Arg) c.2474A>G (p.Gln825Arg) c.2423A>G (p.Gln808Arg) c.2471A>G (p.Gln824Arg) c.2516A>G (p.Gln839Arg) c.2381A>G (p.Gln794Arg) c.2513A>G (p.Gln838Arg) c.2378A>G (p.Gln793Arg) n.2674A>G | |
2 | g.71564122A>T | CA347211354 | DYSF | c.2420A>T (p.Gln807Leu) c.2474A>T (p.Gln825Leu) c.2423A>T (p.Gln808Leu) c.2471A>T (p.Gln824Leu) c.2516A>T (p.Gln839Leu) c.2381A>T (p.Gln794Leu) c.2513A>T (p.Gln838Leu) c.2378A>T (p.Gln793Leu) n.2674A>T | |
2 | g.71564123G>A | CA426701689 | DYSF | c.2421G>A (p.Gln807=) c.2475G>A (p.Gln825=) c.2424G>A (p.Gln808=) c.2472G>A (p.Gln824=) c.2517G>A (p.Gln839=) c.2382G>A (p.Gln794=) c.2514G>A (p.Gln838=) c.2379G>A (p.Gln793=) n.2675G>A | |
2 | g.71564123G>C | CA347211355 | DYSF | c.2421G>C (p.Gln807His) c.2475G>C (p.Gln825His) c.2424G>C (p.Gln808His) c.2472G>C (p.Gln824His) c.2517G>C (p.Gln839His) c.2382G>C (p.Gln794His) c.2514G>C (p.Gln838His) c.2379G>C (p.Gln793His) n.2675G>C | |
2 | g.71564123G= | CA1260100712 | DYSF | c.2421G= (p.Gln807=) c.2475G= (p.Gln825=) c.2424G= (p.Gln808=) c.2472G= (p.Gln824=) c.2517G= (p.Gln839=) c.2382G= (p.Gln794=) c.2514G= (p.Gln838=) c.2379G= (p.Gln793=) n.2675G= | |
2 | g.71564123G>T | CA347211356 | DYSF | c.2421G>T (p.Gln807His) c.2475G>T (p.Gln825His) c.2424G>T (p.Gln808His) c.2472G>T (p.Gln824His) c.2517G>T (p.Gln839His) c.2382G>T (p.Gln794His) c.2514G>T (p.Gln838His) c.2379G>T (p.Gln793His) n.2675G>T | |
2 | g.71564124C>A | CA426701690 | DYSF | c.2422C>A (p.Arg808=) c.2476C>A (p.Arg826=) c.2425C>A (p.Arg809=) c.2473C>A (p.Arg825=) c.2518C>A (p.Arg840=) c.2383C>A (p.Arg795=) c.2515C>A (p.Arg839=) c.2380C>A (p.Arg794=) n.2676C>A | |
2 | g.71564124C= | CA1260100716 | DYSF | c.2422C= (p.Arg808=) c.2476C= (p.Arg826=) c.2425C= (p.Arg809=) c.2473C= (p.Arg825=) c.2518C= (p.Arg840=) c.2383C= (p.Arg795=) c.2515C= (p.Arg839=) c.2380C= (p.Arg794=) n.2676C= | |
2 | g.71564124C>G | CA347211357 | DYSF | c.2422C>G (p.Arg808Gly) c.2476C>G (p.Arg826Gly) c.2425C>G (p.Arg809Gly) c.2473C>G (p.Arg825Gly) c.2518C>G (p.Arg840Gly) c.2383C>G (p.Arg795Gly) c.2515C>G (p.Arg839Gly) c.2380C>G (p.Arg794Gly) n.2676C>G | |
2 | g.71564124C>T | CA347211358 | DYSF | c.2422C>T (p.Arg808Trp) c.2476C>T (p.Arg826Trp) c.2425C>T (p.Arg809Trp) c.2473C>T (p.Arg825Trp) c.2518C>T (p.Arg840Trp) c.2383C>T (p.Arg795Trp) c.2515C>T (p.Arg839Trp) c.2380C>T (p.Arg794Trp) n.2676C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564124dup | CA533258111 | DYSF | c.2422dup (p.Arg808ProfsTer?) c.2476dup (p.Arg826ProfsTer?) c.2425dup (p.Arg809ProfsTer?) c.2473dup (p.Arg825ProfsTer?) c.2518dup (p.Arg840ProfsTer?) c.2383dup (p.Arg795ProfsTer?) c.2515dup (p.Arg839ProfsTer?) c.2380dup (p.Arg794ProfsTer?) n.2676dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564125G>A | CA1706183 | DYSF | c.2423G>A (p.Arg808Gln) c.2477G>A (p.Arg826Gln) c.2426G>A (p.Arg809Gln) c.2474G>A (p.Arg825Gln) c.2519G>A (p.Arg840Gln) c.2384G>A (p.Arg795Gln) c.2516G>A (p.Arg839Gln) c.2381G>A (p.Arg794Gln) n.2677G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564125G>C | CA347211359 | DYSF | c.2423G>C (p.Arg808Pro) c.2477G>C (p.Arg826Pro) c.2426G>C (p.Arg809Pro) c.2474G>C (p.Arg825Pro) c.2519G>C (p.Arg840Pro) c.2384G>C (p.Arg795Pro) c.2516G>C (p.Arg839Pro) c.2381G>C (p.Arg794Pro) n.2677G>C | |
2 | g.71564125G= | CA1260100718 | DYSF | c.2423G= (p.Arg808=) c.2477G= (p.Arg826=) c.2426G= (p.Arg809=) c.2474G= (p.Arg825=) c.2519G= (p.Arg840=) c.2384G= (p.Arg795=) c.2516G= (p.Arg839=) c.2381G= (p.Arg794=) n.2677G= | |
2 | g.71564125G>T | CA347211360 | DYSF | c.2423G>T (p.Arg808Leu) c.2477G>T (p.Arg826Leu) c.2426G>T (p.Arg809Leu) c.2474G>T (p.Arg825Leu) c.2519G>T (p.Arg840Leu) c.2384G>T (p.Arg795Leu) c.2516G>T (p.Arg839Leu) c.2381G>T (p.Arg794Leu) n.2677G>T | |
2 | g.71564126G>A | CA426701691 | DYSF | c.2424G>A (p.Arg808=) c.2478G>A (p.Arg826=) c.2427G>A (p.Arg809=) c.2475G>A (p.Arg825=) c.2520G>A (p.Arg840=) c.2385G>A (p.Arg795=) c.2517G>A (p.Arg839=) c.2382G>A (p.Arg794=) n.2678G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564126G>C | CA426701692 | DYSF | c.2424G>C (p.Arg808=) c.2478G>C (p.Arg826=) c.2427G>C (p.Arg809=) c.2475G>C (p.Arg825=) c.2520G>C (p.Arg840=) c.2385G>C (p.Arg795=) c.2517G>C (p.Arg839=) c.2382G>C (p.Arg794=) n.2678G>C | |
2 | g.71564126G= | CA1260100723 | DYSF | c.2424G= (p.Arg808=) c.2478G= (p.Arg826=) c.2427G= (p.Arg809=) c.2475G= (p.Arg825=) c.2520G= (p.Arg840=) c.2385G= (p.Arg795=) c.2517G= (p.Arg839=) c.2382G= (p.Arg794=) n.2678G= | |
2 | g.71564126G>T | CA426701693 | DYSF | c.2424G>T (p.Arg808=) c.2478G>T (p.Arg826=) c.2427G>T (p.Arg809=) c.2475G>T (p.Arg825=) c.2520G>T (p.Arg840=) c.2385G>T (p.Arg795=) c.2517G>T (p.Arg839=) c.2382G>T (p.Arg794=) n.2678G>T | |
2 | g.71564127G>A | CA347211365 | DYSF | c.2425G>A (p.Val809Met) c.2479G>A (p.Val827Met) c.2428G>A (p.Val810Met) c.2476G>A (p.Val826Met) c.2521G>A (p.Val841Met) c.2386G>A (p.Val796Met) c.2518G>A (p.Val840Met) c.2383G>A (p.Val795Met) n.2679G>A | gnomAD v4 |
2 | g.71564127G>C | CA347211362 | DYSF | c.2425G>C (p.Val809Leu) c.2479G>C (p.Val827Leu) c.2428G>C (p.Val810Leu) c.2476G>C (p.Val826Leu) c.2521G>C (p.Val841Leu) c.2386G>C (p.Val796Leu) c.2518G>C (p.Val840Leu) c.2383G>C (p.Val795Leu) n.2679G>C | |
2 | g.71564127G>T | CA347211361 | DYSF | c.2425G>T (p.Val809Leu) c.2479G>T (p.Val827Leu) c.2428G>T (p.Val810Leu) c.2476G>T (p.Val826Leu) c.2521G>T (p.Val841Leu) c.2386G>T (p.Val796Leu) c.2518G>T (p.Val840Leu) c.2383G>T (p.Val795Leu) n.2679G>T | |
2 | g.71564128T>A | CA347211367 | DYSF | c.2426T>A (p.Val809Glu) c.2480T>A (p.Val827Glu) c.2429T>A (p.Val810Glu) c.2477T>A (p.Val826Glu) c.2522T>A (p.Val841Glu) c.2387T>A (p.Val796Glu) c.2519T>A (p.Val840Glu) c.2384T>A (p.Val795Glu) n.2680T>A | |
2 | g.71564128T>C | CA347211369 | DYSF | c.2426T>C (p.Val809Ala) c.2480T>C (p.Val827Ala) c.2429T>C (p.Val810Ala) c.2477T>C (p.Val826Ala) c.2522T>C (p.Val841Ala) c.2387T>C (p.Val796Ala) c.2519T>C (p.Val840Ala) c.2384T>C (p.Val795Ala) n.2680T>C | gnomAD v4 |
2 | g.71564128T>G | CA347211372 | DYSF | c.2426T>G (p.Val809Gly) c.2480T>G (p.Val827Gly) c.2429T>G (p.Val810Gly) c.2477T>G (p.Val826Gly) c.2522T>G (p.Val841Gly) c.2387T>G (p.Val796Gly) c.2519T>G (p.Val840Gly) c.2384T>G (p.Val795Gly) n.2680T>G | dbSNP |
2 | g.71564128T= | CA1260100726 | DYSF | c.2426T= (p.Val809=) c.2480T= (p.Val827=) c.2429T= (p.Val810=) c.2477T= (p.Val826=) c.2522T= (p.Val841=) c.2387T= (p.Val796=) c.2519T= (p.Val840=) c.2384T= (p.Val795=) n.2680T= | |
2 | g.71564129G>A | CA426701694 | DYSF | c.2427G>A (p.Val809=) c.2481G>A (p.Val827=) c.2430G>A (p.Val810=) c.2478G>A (p.Val826=) c.2523G>A (p.Val841=) c.2388G>A (p.Val796=) c.2520G>A (p.Val840=) c.2385G>A (p.Val795=) n.2681G>A | ClinVar dbSNP |
2 | g.71564129G>C | CA426701695 | DYSF | c.2427G>C (p.Val809=) c.2481G>C (p.Val827=) c.2430G>C (p.Val810=) c.2478G>C (p.Val826=) c.2523G>C (p.Val841=) c.2388G>C (p.Val796=) c.2520G>C (p.Val840=) c.2385G>C (p.Val795=) n.2681G>C | |
2 | g.71564129G= | CA1260100729 | DYSF | c.2427G= (p.Val809=) c.2481G= (p.Val827=) c.2430G= (p.Val810=) c.2478G= (p.Val826=) c.2523G= (p.Val841=) c.2388G= (p.Val796=) c.2520G= (p.Val840=) c.2385G= (p.Val795=) n.2681G= | |
2 | g.71564129G>T | CA426701696 | DYSF | c.2427G>T (p.Val809=) c.2481G>T (p.Val827=) c.2430G>T (p.Val810=) c.2478G>T (p.Val826=) c.2523G>T (p.Val841=) c.2388G>T (p.Val796=) c.2520G>T (p.Val840=) c.2385G>T (p.Val795=) n.2681G>T | |
2 | g.71564130C>A | CA1706185 | DYSF | c.2428C>A (p.Pro810Thr) c.2482C>A (p.Pro828Thr) c.2431C>A (p.Pro811Thr) c.2479C>A (p.Pro827Thr) c.2524C>A (p.Pro842Thr) c.2389C>A (p.Pro797Thr) c.2521C>A (p.Pro841Thr) c.2386C>A (p.Pro796Thr) n.2682C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564130C= | CA1260100734 | DYSF | c.2428C= (p.Pro810=) c.2482C= (p.Pro828=) c.2431C= (p.Pro811=) c.2479C= (p.Pro827=) c.2524C= (p.Pro842=) c.2389C= (p.Pro797=) c.2521C= (p.Pro841=) c.2386C= (p.Pro796=) n.2682C= | |
2 | g.71564130C>G | CA347211377 | DYSF | c.2428C>G (p.Pro810Ala) c.2482C>G (p.Pro828Ala) c.2431C>G (p.Pro811Ala) c.2479C>G (p.Pro827Ala) c.2524C>G (p.Pro842Ala) c.2389C>G (p.Pro797Ala) c.2521C>G (p.Pro841Ala) c.2386C>G (p.Pro796Ala) n.2682C>G | COSMIC COSMIC |
2 | g.71564130C>T | CA1706184 | DYSF | c.2428C>T (p.Pro810Ser) c.2482C>T (p.Pro828Ser) c.2431C>T (p.Pro811Ser) c.2479C>T (p.Pro827Ser) c.2524C>T (p.Pro842Ser) c.2389C>T (p.Pro797Ser) c.2521C>T (p.Pro841Ser) c.2386C>T (p.Pro796Ser) n.2682C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564131_71564132dup | CA2697548242 | DYSF | c.2429_2430dup (p.Ala811ProfsTer27) c.2483_2484dup (p.Ala829ProfsTer27) c.2432_2433dup (p.Ala812ProfsTer27) c.2480_2481dup (p.Ala828ProfsTer27) c.2525_2526dup (p.Ala843ProfsTer27) c.2390_2391dup (p.Ala798ProfsTer27) c.2522_2523dup (p.Ala842ProfsTer27) c.2387_2388dup (p.Ala797ProfsTer27) n.2683_2684dup | ClinVar |
2 | g.71564131C>A | CA347211383 | DYSF | c.2429C>A (p.Pro810His) c.2483C>A (p.Pro828His) c.2432C>A (p.Pro811His) c.2480C>A (p.Pro827His) c.2525C>A (p.Pro842His) c.2390C>A (p.Pro797His) c.2522C>A (p.Pro841His) c.2387C>A (p.Pro796His) n.2683C>A | |
2 | g.71564131C>G | CA347211385 | DYSF | c.2429C>G (p.Pro810Arg) c.2483C>G (p.Pro828Arg) c.2432C>G (p.Pro811Arg) c.2480C>G (p.Pro827Arg) c.2525C>G (p.Pro842Arg) c.2390C>G (p.Pro797Arg) c.2522C>G (p.Pro841Arg) c.2387C>G (p.Pro796Arg) n.2683C>G | |
2 | g.71564131C>T | CA347211387 | DYSF | c.2429C>T (p.Pro810Leu) c.2483C>T (p.Pro828Leu) c.2432C>T (p.Pro811Leu) c.2480C>T (p.Pro827Leu) c.2525C>T (p.Pro842Leu) c.2390C>T (p.Pro797Leu) c.2522C>T (p.Pro841Leu) c.2387C>T (p.Pro796Leu) n.2683C>T | COSMIC COSMIC |
2 | g.71564132C>A | CA426701697 | DYSF | c.2430C>A (p.Pro810=) c.2484C>A (p.Pro828=) c.2433C>A (p.Pro811=) c.2481C>A (p.Pro827=) c.2526C>A (p.Pro842=) c.2391C>A (p.Pro797=) c.2523C>A (p.Pro841=) c.2388C>A (p.Pro796=) n.2684C>A | COSMIC COSMIC |
2 | g.71564132C= | CA1260100741 | DYSF | c.2430C= (p.Pro810=) c.2484C= (p.Pro828=) c.2433C= (p.Pro811=) c.2481C= (p.Pro827=) c.2526C= (p.Pro842=) c.2391C= (p.Pro797=) c.2523C= (p.Pro841=) c.2388C= (p.Pro796=) n.2684C= | |
2 | g.71564132C>G | CA426701698 | DYSF | c.2430C>G (p.Pro810=) c.2484C>G (p.Pro828=) c.2433C>G (p.Pro811=) c.2481C>G (p.Pro827=) c.2526C>G (p.Pro842=) c.2391C>G (p.Pro797=) c.2523C>G (p.Pro841=) c.2388C>G (p.Pro796=) n.2684C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564132C>T | CA1706186 | DYSF | c.2430C>T (p.Pro810=) c.2484C>T (p.Pro828=) c.2433C>T (p.Pro811=) c.2481C>T (p.Pro827=) c.2526C>T (p.Pro842=) c.2391C>T (p.Pro797=) c.2523C>T (p.Pro841=) c.2388C>T (p.Pro796=) n.2684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564133G>A | CA1706187 | DYSF | c.2431G>A (p.Ala811Thr) c.2485G>A (p.Ala829Thr) c.2434G>A (p.Ala812Thr) c.2482G>A (p.Ala828Thr) c.2527G>A (p.Ala843Thr) c.2392G>A (p.Ala798Thr) c.2524G>A (p.Ala842Thr) c.2389G>A (p.Ala797Thr) n.2685G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.71564133G>C | CA347211392 | DYSF | c.2431G>C (p.Ala811Pro) c.2485G>C (p.Ala829Pro) c.2434G>C (p.Ala812Pro) c.2482G>C (p.Ala828Pro) c.2527G>C (p.Ala843Pro) c.2392G>C (p.Ala798Pro) c.2524G>C (p.Ala842Pro) c.2389G>C (p.Ala797Pro) n.2685G>C | |
2 | g.71564133G= | CA1260100749 | DYSF | c.2431G= (p.Ala811=) c.2485G= (p.Ala829=) c.2434G= (p.Ala812=) c.2482G= (p.Ala828=) c.2527G= (p.Ala843=) c.2392G= (p.Ala798=) c.2524G= (p.Ala842=) c.2389G= (p.Ala797=) n.2685G= | |
2 | g.71564133G>T | CA347211390 | DYSF | c.2431G>T (p.Ala811Ser) c.2485G>T (p.Ala829Ser) c.2434G>T (p.Ala812Ser) c.2482G>T (p.Ala828Ser) c.2527G>T (p.Ala843Ser) c.2392G>T (p.Ala798Ser) c.2524G>T (p.Ala842Ser) c.2389G>T (p.Ala797Ser) n.2685G>T | ClinVar dbSNP |
2 | g.71564134C>A | CA347211396 | DYSF | c.2432C>A (p.Ala811Asp) c.2486C>A (p.Ala829Asp) c.2435C>A (p.Ala812Asp) c.2483C>A (p.Ala828Asp) c.2528C>A (p.Ala843Asp) c.2393C>A (p.Ala798Asp) c.2525C>A (p.Ala842Asp) c.2390C>A (p.Ala797Asp) n.2686C>A | |
2 | g.71564134C= | CA1260100761 | DYSF | c.2432C= (p.Ala811=) c.2486C= (p.Ala829=) c.2435C= (p.Ala812=) c.2483C= (p.Ala828=) c.2528C= (p.Ala843=) c.2393C= (p.Ala798=) c.2525C= (p.Ala842=) c.2390C= (p.Ala797=) n.2686C= | |
2 | g.71564134C>G | CA347211399 | DYSF | c.2432C>G (p.Ala811Gly) c.2486C>G (p.Ala829Gly) c.2435C>G (p.Ala812Gly) c.2483C>G (p.Ala828Gly) c.2528C>G (p.Ala843Gly) c.2393C>G (p.Ala798Gly) c.2525C>G (p.Ala842Gly) c.2390C>G (p.Ala797Gly) n.2686C>G | |
2 | g.71564134C>T | CA347211400 | DYSF | c.2432C>T (p.Ala811Val) c.2486C>T (p.Ala829Val) c.2435C>T (p.Ala812Val) c.2483C>T (p.Ala828Val) c.2528C>T (p.Ala843Val) c.2393C>T (p.Ala798Val) c.2525C>T (p.Ala842Val) c.2390C>T (p.Ala797Val) n.2686C>T | ClinVar dbSNP |
2 | g.71564136dup | CA2586969474 | DYSF | c.2434dup (p.His812ProfsTer?) c.2488dup (p.His830ProfsTer?) c.2437dup (p.His813ProfsTer?) c.2485dup (p.His829ProfsTer?) c.2530dup (p.His844ProfsTer?) c.2395dup (p.His799ProfsTer?) c.2527dup (p.His843ProfsTer?) c.2392dup (p.His798ProfsTer?) n.2688dup | |
2 | g.71564134_71564137delinsCCCA | CA1260100759 | DYSF | c.2432_2435delinsCCCA (p.Ala811=) c.2486_2489delinsCCCA (p.Ala829=) c.2435_2438delinsCCCA (p.Ala812=) c.2483_2486delinsCCCA (p.Ala828=) c.2528_2531delinsCCCA (p.Ala843=) c.2393_2396delinsCCCA (p.Ala798=) c.2525_2528delinsCCCA (p.Ala842=) c.2390_2393delinsCCCA (p.Ala797=) n.2686_2689delinsCCCA | |
2 | g.71564135C>A | CA426701699 | DYSF | c.2433C>A (p.Ala811=) c.2487C>A (p.Ala829=) c.2436C>A (p.Ala812=) c.2484C>A (p.Ala828=) c.2529C>A (p.Ala843=) c.2394C>A (p.Ala798=) c.2526C>A (p.Ala842=) c.2391C>A (p.Ala797=) n.2687C>A | |
2 | g.71564135C= | CA1260100766 | DYSF | c.2433C= (p.Ala811=) c.2487C= (p.Ala829=) c.2436C= (p.Ala812=) c.2484C= (p.Ala828=) c.2529C= (p.Ala843=) c.2394C= (p.Ala798=) c.2526C= (p.Ala842=) c.2391C= (p.Ala797=) n.2687C= | |
2 | g.71564135C>G | CA426701700 | DYSF | c.2433C>G (p.Ala811=) c.2487C>G (p.Ala829=) c.2436C>G (p.Ala812=) c.2484C>G (p.Ala828=) c.2529C>G (p.Ala843=) c.2394C>G (p.Ala798=) c.2526C>G (p.Ala842=) c.2391C>G (p.Ala797=) n.2687C>G | |
2 | g.71564135C>T | CA426701701 | DYSF | c.2433C>T (p.Ala811=) c.2487C>T (p.Ala829=) c.2436C>T (p.Ala812=) c.2484C>T (p.Ala828=) c.2529C>T (p.Ala843=) c.2394C>T (p.Ala798=) c.2526C>T (p.Ala842=) c.2391C>T (p.Ala797=) n.2687C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564138_71564140del | CA533258112 | DYSF | c.2436_2438del (p.His812del) c.2490_2492del (p.His830del) c.2439_2441del (p.His813del) c.2487_2489del (p.His829del) c.2532_2534del (p.His844del) c.2397_2399del (p.His799del) c.2529_2531del (p.His843del) c.2394_2396del (p.His798del) n.2690_2692del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564136C>A | CA347211402 | DYSF | c.2434C>A (p.His812Asn) c.2488C>A (p.His830Asn) c.2437C>A (p.His813Asn) c.2485C>A (p.His829Asn) c.2530C>A (p.His844Asn) c.2395C>A (p.His799Asn) c.2527C>A (p.His843Asn) c.2392C>A (p.His798Asn) n.2688C>A | |
2 | g.71564136C= | CA1260100770 | DYSF | c.2434C= (p.His812=) c.2488C= (p.His830=) c.2437C= (p.His813=) c.2485C= (p.His829=) c.2530C= (p.His844=) c.2395C= (p.His799=) c.2527C= (p.His843=) c.2392C= (p.His798=) n.2688C= | |
2 | g.71564136C>G | CA347211405 | DYSF | c.2434C>G (p.His812Asp) c.2488C>G (p.His830Asp) c.2437C>G (p.His813Asp) c.2485C>G (p.His829Asp) c.2530C>G (p.His844Asp) c.2395C>G (p.His799Asp) c.2527C>G (p.His843Asp) c.2392C>G (p.His798Asp) n.2688C>G | |
2 | g.71564136C>T | CA347211409 | DYSF | c.2434C>T (p.His812Tyr) c.2488C>T (p.His830Tyr) c.2437C>T (p.His813Tyr) c.2485C>T (p.His829Tyr) c.2530C>T (p.His844Tyr) c.2395C>T (p.His799Tyr) c.2527C>T (p.His843Tyr) c.2392C>T (p.His798Tyr) n.2688C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564137A= | CA1260100779 | DYSF | c.2435A= (p.His812=) c.2489A= (p.His830=) c.2438A= (p.His813=) c.2486A= (p.His829=) c.2531A= (p.His844=) c.2396A= (p.His799=) c.2528A= (p.His843=) c.2393A= (p.His798=) n.2689A= | |
2 | g.71564137A>C | CA347211413 | DYSF | c.2435A>C (p.His812Pro) c.2489A>C (p.His830Pro) c.2438A>C (p.His813Pro) c.2486A>C (p.His829Pro) c.2531A>C (p.His844Pro) c.2396A>C (p.His799Pro) c.2528A>C (p.His843Pro) c.2393A>C (p.His798Pro) n.2689A>C | ClinVar dbSNP |
2 | g.71564137A>G | CA347211416 | DYSF | c.2435A>G (p.His812Arg) c.2489A>G (p.His830Arg) c.2438A>G (p.His813Arg) c.2486A>G (p.His829Arg) c.2531A>G (p.His844Arg) c.2396A>G (p.His799Arg) c.2528A>G (p.His843Arg) c.2393A>G (p.His798Arg) n.2689A>G | |
2 | g.71564137A>T | CA347211419 | DYSF | c.2435A>T (p.His812Leu) c.2489A>T (p.His830Leu) c.2438A>T (p.His813Leu) c.2486A>T (p.His829Leu) c.2531A>T (p.His844Leu) c.2396A>T (p.His799Leu) c.2528A>T (p.His843Leu) c.2393A>T (p.His798Leu) n.2689A>T | |
2 | g.71564138C>A | CA347211421 | DYSF | c.2436C>A (p.His812Gln) c.2490C>A (p.His830Gln) c.2439C>A (p.His813Gln) c.2487C>A (p.His829Gln) c.2532C>A (p.His844Gln) c.2397C>A (p.His799Gln) c.2529C>A (p.His843Gln) c.2394C>A (p.His798Gln) n.2690C>A | |
2 | g.71564138C>G | CA347211423 | DYSF | c.2436C>G (p.His812Gln) c.2490C>G (p.His830Gln) c.2439C>G (p.His813Gln) c.2487C>G (p.His829Gln) c.2532C>G (p.His844Gln) c.2397C>G (p.His799Gln) c.2529C>G (p.His843Gln) c.2394C>G (p.His798Gln) n.2690C>G | |
2 | g.71564138C>T | CA426701702 | DYSF | c.2436C>T (p.His812=) c.2490C>T (p.His830=) c.2439C>T (p.His813=) c.2487C>T (p.His829=) c.2532C>T (p.His844=) c.2397C>T (p.His799=) c.2529C>T (p.His843=) c.2394C>T (p.His798=) n.2690C>T | |
2 | g.71564139C>A | CA347211433 | DYSF | c.2437C>A (p.Gln813Lys) c.2491C>A (p.Gln831Lys) c.2440C>A (p.Gln814Lys) c.2488C>A (p.Gln830Lys) c.2533C>A (p.Gln845Lys) c.2398C>A (p.Gln800Lys) c.2530C>A (p.Gln844Lys) c.2395C>A (p.Gln799Lys) n.2691C>A | gnomAD v4 |
2 | g.71564139C>G | CA347211426 | DYSF | c.2437C>G (p.Gln813Glu) c.2491C>G (p.Gln831Glu) c.2440C>G (p.Gln814Glu) c.2488C>G (p.Gln830Glu) c.2533C>G (p.Gln845Glu) c.2398C>G (p.Gln800Glu) c.2530C>G (p.Gln844Glu) c.2395C>G (p.Gln799Glu) n.2691C>G | ClinVar dbSNP |
2 | g.71564139C>T | CA347211431 | DYSF | c.2437C>T (p.Gln813Ter) c.2491C>T (p.Gln831Ter) c.2440C>T (p.Gln814Ter) c.2488C>T (p.Gln830Ter) c.2533C>T (p.Gln845Ter) c.2398C>T (p.Gln800Ter) c.2530C>T (p.Gln844Ter) c.2395C>T (p.Gln799Ter) n.2691C>T | |
2 | g.71564140A>C | CA347211435 | DYSF | c.2438A>C (p.Gln813Pro) c.2492A>C (p.Gln831Pro) c.2441A>C (p.Gln814Pro) c.2489A>C (p.Gln830Pro) c.2534A>C (p.Gln845Pro) c.2399A>C (p.Gln800Pro) c.2531A>C (p.Gln844Pro) c.2396A>C (p.Gln799Pro) n.2692A>C | |
2 | g.71564140A>G | CA347211438 | DYSF | c.2438A>G (p.Gln813Arg) c.2492A>G (p.Gln831Arg) c.2441A>G (p.Gln814Arg) c.2489A>G (p.Gln830Arg) c.2534A>G (p.Gln845Arg) c.2399A>G (p.Gln800Arg) c.2531A>G (p.Gln844Arg) c.2396A>G (p.Gln799Arg) n.2692A>G | gnomAD v4 |
2 | g.71564140A>T | CA347211439 | DYSF | c.2438A>T (p.Gln813Leu) c.2492A>T (p.Gln831Leu) c.2441A>T (p.Gln814Leu) c.2489A>T (p.Gln830Leu) c.2534A>T (p.Gln845Leu) c.2399A>T (p.Gln800Leu) c.2531A>T (p.Gln844Leu) c.2396A>T (p.Gln799Leu) n.2692A>T | |
2 | g.71564141A>C | CA347211443 | DYSF | c.2439A>C (p.Gln813His) c.2493A>C (p.Gln831His) c.2442A>C (p.Gln814His) c.2490A>C (p.Gln830His) c.2535A>C (p.Gln845His) c.2400A>C (p.Gln800His) c.2532A>C (p.Gln844His) c.2397A>C (p.Gln799His) n.2693A>C | |
2 | g.71564141A>G | CA426701703 | DYSF | c.2439A>G (p.Gln813=) c.2493A>G (p.Gln831=) c.2442A>G (p.Gln814=) c.2490A>G (p.Gln830=) c.2535A>G (p.Gln845=) c.2400A>G (p.Gln800=) c.2532A>G (p.Gln844=) c.2397A>G (p.Gln799=) n.2693A>G | gnomAD v4 |
2 | g.71564141A>T | CA347211446 | DYSF | c.2439A>T (p.Gln813His) c.2493A>T (p.Gln831His) c.2442A>T (p.Gln814His) c.2490A>T (p.Gln830His) c.2535A>T (p.Gln845His) c.2400A>T (p.Gln800His) c.2532A>T (p.Gln844His) c.2397A>T (p.Gln799His) n.2693A>T | |
2 | g.71564142G>A | CA347211449 | DYSF | c.2440G>A (p.Val814Ile) c.2494G>A (p.Val832Ile) c.2443G>A (p.Val815Ile) c.2491G>A (p.Val831Ile) c.2536G>A (p.Val846Ile) c.2401G>A (p.Val801Ile) c.2533G>A (p.Val845Ile) c.2398G>A (p.Val800Ile) n.2694G>A | gnomAD v4 |
2 | g.71564142G>C | CA347211450 | DYSF | c.2440G>C (p.Val814Leu) c.2494G>C (p.Val832Leu) c.2443G>C (p.Val815Leu) c.2491G>C (p.Val831Leu) c.2536G>C (p.Val846Leu) c.2401G>C (p.Val801Leu) c.2533G>C (p.Val845Leu) c.2398G>C (p.Val800Leu) n.2694G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564142G= | CA1260100784 | DYSF | c.2440G= (p.Val814=) c.2494G= (p.Val832=) c.2443G= (p.Val815=) c.2491G= (p.Val831=) c.2536G= (p.Val846=) c.2401G= (p.Val801=) c.2533G= (p.Val845=) c.2398G= (p.Val800=) n.2694G= | |
2 | g.71564142G>T | CA347211453 | DYSF | c.2440G>T (p.Val814Phe) c.2494G>T (p.Val832Phe) c.2443G>T (p.Val815Phe) c.2491G>T (p.Val831Phe) c.2536G>T (p.Val846Phe) c.2401G>T (p.Val801Phe) c.2533G>T (p.Val845Phe) c.2398G>T (p.Val800Phe) n.2694G>T | |
2 | g.71564143T>A | CA347211459 | DYSF | c.2441T>A (p.Val814Asp) c.2495T>A (p.Val832Asp) c.2444T>A (p.Val815Asp) c.2492T>A (p.Val831Asp) c.2537T>A (p.Val846Asp) c.2402T>A (p.Val801Asp) c.2534T>A (p.Val845Asp) c.2399T>A (p.Val800Asp) n.2695T>A | |
2 | g.71564143T>C | CA347211460 | DYSF | c.2441T>C (p.Val814Ala) c.2495T>C (p.Val832Ala) c.2444T>C (p.Val815Ala) c.2492T>C (p.Val831Ala) c.2537T>C (p.Val846Ala) c.2402T>C (p.Val801Ala) c.2534T>C (p.Val845Ala) c.2399T>C (p.Val800Ala) n.2695T>C | |
2 | g.71564143T>G | CA347211461 | DYSF | c.2441T>G (p.Val814Gly) c.2495T>G (p.Val832Gly) c.2444T>G (p.Val815Gly) c.2492T>G (p.Val831Gly) c.2537T>G (p.Val846Gly) c.2402T>G (p.Val801Gly) c.2534T>G (p.Val845Gly) c.2399T>G (p.Val800Gly) n.2695T>G | |
2 | g.71564144C>A | CA49742352 | DYSF | c.2442C>A (p.Val814=) c.2496C>A (p.Val832=) c.2445C>A (p.Val815=) c.2493C>A (p.Val831=) c.2538C>A (p.Val846=) c.2403C>A (p.Val801=) c.2535C>A (p.Val845=) c.2400C>A (p.Val800=) n.2696C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564144C= | CA1260100786 | DYSF | c.2442C= (p.Val814=) c.2496C= (p.Val832=) c.2445C= (p.Val815=) c.2493C= (p.Val831=) c.2538C= (p.Val846=) c.2403C= (p.Val801=) c.2535C= (p.Val845=) c.2400C= (p.Val800=) n.2696C= | |
2 | g.71564144C>G | CA426701705 | DYSF | c.2442C>G (p.Val814=) c.2496C>G (p.Val832=) c.2445C>G (p.Val815=) c.2493C>G (p.Val831=) c.2538C>G (p.Val846=) c.2403C>G (p.Val801=) c.2535C>G (p.Val845=) c.2400C>G (p.Val800=) n.2696C>G | gnomAD v4 |
2 | g.71564144C>T | CA426701704 | DYSF | c.2442C>T (p.Val814=) c.2496C>T (p.Val832=) c.2445C>T (p.Val815=) c.2493C>T (p.Val831=) c.2538C>T (p.Val846=) c.2403C>T (p.Val801=) c.2535C>T (p.Val845=) c.2400C>T (p.Val800=) n.2696C>T | ClinVar dbSNP |
2 | g.71564145C>A | CA347211463 | DYSF | c.2443C>A (p.Leu815Ile) c.2497C>A (p.Leu833Ile) c.2446C>A (p.Leu816Ile) c.2494C>A (p.Leu832Ile) c.2539C>A (p.Leu847Ile) c.2404C>A (p.Leu802Ile) c.2536C>A (p.Leu846Ile) c.2401C>A (p.Leu801Ile) n.2697C>A | |
2 | g.71564145C= | CA1260100789 | DYSF | c.2443C= (p.Leu815=) c.2497C= (p.Leu833=) c.2446C= (p.Leu816=) c.2494C= (p.Leu832=) c.2539C= (p.Leu847=) c.2404C= (p.Leu802=) c.2536C= (p.Leu846=) c.2401C= (p.Leu801=) n.2697C= | |
2 | g.71564145C>G | CA347211464 | DYSF | c.2443C>G (p.Leu815Val) c.2497C>G (p.Leu833Val) c.2446C>G (p.Leu816Val) c.2494C>G (p.Leu832Val) c.2539C>G (p.Leu847Val) c.2404C>G (p.Leu802Val) c.2536C>G (p.Leu846Val) c.2401C>G (p.Leu801Val) n.2697C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564145C>T | CA347211462 | DYSF | c.2443C>T (p.Leu815Phe) c.2497C>T (p.Leu833Phe) c.2446C>T (p.Leu816Phe) c.2494C>T (p.Leu832Phe) c.2539C>T (p.Leu847Phe) c.2404C>T (p.Leu802Phe) c.2536C>T (p.Leu846Phe) c.2401C>T (p.Leu801Phe) n.2697C>T | dbSNP gnomAD v4 COSMIC COSMIC |
2 | g.71564146T>A | CA347211471 | DYSF | c.2444T>A (p.Leu815His) c.2498T>A (p.Leu833His) c.2447T>A (p.Leu816His) c.2495T>A (p.Leu832His) c.2540T>A (p.Leu847His) c.2405T>A (p.Leu802His) c.2537T>A (p.Leu846His) c.2402T>A (p.Leu801His) n.2698T>A | |
2 | g.71564146T>C | CA347211467 | DYSF | c.2444T>C (p.Leu815Pro) c.2498T>C (p.Leu833Pro) c.2447T>C (p.Leu816Pro) c.2495T>C (p.Leu832Pro) c.2540T>C (p.Leu847Pro) c.2405T>C (p.Leu802Pro) c.2537T>C (p.Leu846Pro) c.2402T>C (p.Leu801Pro) n.2698T>C | gnomAD v4 |
2 | g.71564146T>G | CA347211469 | DYSF | c.2444T>G (p.Leu815Arg) c.2498T>G (p.Leu833Arg) c.2447T>G (p.Leu816Arg) c.2495T>G (p.Leu832Arg) c.2540T>G (p.Leu847Arg) c.2405T>G (p.Leu802Arg) c.2537T>G (p.Leu846Arg) c.2402T>G (p.Leu801Arg) n.2698T>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.71564146T= | CA1260100792 | DYSF | c.2444T= (p.Leu815=) c.2498T= (p.Leu833=) c.2447T= (p.Leu816=) c.2495T= (p.Leu832=) c.2540T= (p.Leu847=) c.2405T= (p.Leu802=) c.2537T= (p.Leu846=) c.2402T= (p.Leu801=) n.2698T= | |
2 | g.71564147C>A | CA426701706 | DYSF | c.2445C>A (p.Leu815=) c.2499C>A (p.Leu833=) c.2448C>A (p.Leu816=) c.2496C>A (p.Leu832=) c.2541C>A (p.Leu847=) c.2406C>A (p.Leu802=) c.2538C>A (p.Leu846=) c.2403C>A (p.Leu801=) n.2699C>A | |
2 | g.71564147C>G | CA426701708 | DYSF | c.2445C>G (p.Leu815=) c.2499C>G (p.Leu833=) c.2448C>G (p.Leu816=) c.2496C>G (p.Leu832=) c.2541C>G (p.Leu847=) c.2406C>G (p.Leu802=) c.2538C>G (p.Leu846=) c.2403C>G (p.Leu801=) n.2699C>G | |
2 | g.71564147C>T | CA426701707 | DYSF | c.2445C>T (p.Leu815=) c.2499C>T (p.Leu833=) c.2448C>T (p.Leu816=) c.2496C>T (p.Leu832=) c.2541C>T (p.Leu847=) c.2406C>T (p.Leu802=) c.2538C>T (p.Leu846=) c.2403C>T (p.Leu801=) n.2699C>T | ClinVar gnomAD v4 |
2 | g.71564148T>A | CA347211474 | DYSF | c.2446T>A (p.Phe816Ile) c.2500T>A (p.Phe834Ile) c.2449T>A (p.Phe817Ile) c.2497T>A (p.Phe833Ile) c.2542T>A (p.Phe848Ile) c.2407T>A (p.Phe803Ile) c.2539T>A (p.Phe847Ile) c.2404T>A (p.Phe802Ile) n.2700T>A | |
2 | g.71564148T>C | CA1706188 | DYSF | c.2446T>C (p.Phe816Leu) c.2500T>C (p.Phe834Leu) c.2449T>C (p.Phe817Leu) c.2497T>C (p.Phe833Leu) c.2542T>C (p.Phe848Leu) c.2407T>C (p.Phe803Leu) c.2539T>C (p.Phe847Leu) c.2404T>C (p.Phe802Leu) n.2700T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.71564148T>G | CA347211479 | DYSF | c.2446T>G (p.Phe816Val) c.2500T>G (p.Phe834Val) c.2449T>G (p.Phe817Val) c.2497T>G (p.Phe833Val) c.2542T>G (p.Phe848Val) c.2407T>G (p.Phe803Val) c.2539T>G (p.Phe847Val) c.2404T>G (p.Phe802Val) n.2700T>G | COSMIC COSMIC |
2 | g.71564148T= | CA1260100796 | DYSF | c.2446T= (p.Phe816=) c.2500T= (p.Phe834=) c.2449T= (p.Phe817=) c.2497T= (p.Phe833=) c.2542T= (p.Phe848=) c.2407T= (p.Phe803=) c.2539T= (p.Phe847=) c.2404T= (p.Phe802=) n.2700T= | |
2 | g.71564149T>A | CA347211483 | DYSF | c.2447T>A (p.Phe816Tyr) c.2501T>A (p.Phe834Tyr) c.2450T>A (p.Phe817Tyr) c.2498T>A (p.Phe833Tyr) c.2543T>A (p.Phe848Tyr) c.2408T>A (p.Phe803Tyr) c.2540T>A (p.Phe847Tyr) c.2405T>A (p.Phe802Tyr) n.2701T>A | |
2 | g.71564149T>C | CA347211485 | DYSF | c.2447T>C (p.Phe816Ser) c.2501T>C (p.Phe834Ser) c.2450T>C (p.Phe817Ser) c.2498T>C (p.Phe833Ser) c.2543T>C (p.Phe848Ser) c.2408T>C (p.Phe803Ser) c.2540T>C (p.Phe847Ser) c.2405T>C (p.Phe802Ser) n.2701T>C | |
2 | g.71564149T>G | CA347211489 | DYSF | c.2447T>G (p.Phe816Cys) c.2501T>G (p.Phe834Cys) c.2450T>G (p.Phe817Cys) c.2498T>G (p.Phe833Cys) c.2543T>G (p.Phe848Cys) c.2408T>G (p.Phe803Cys) c.2540T>G (p.Phe847Cys) c.2405T>G (p.Phe802Cys) n.2701T>G | gnomAD v4 |
2 | g.71564150C>A | CA347211490 | DYSF | c.2448C>A (p.Phe816Leu) c.2502C>A (p.Phe834Leu) c.2451C>A (p.Phe817Leu) c.2499C>A (p.Phe833Leu) c.2544C>A (p.Phe848Leu) c.2409C>A (p.Phe803Leu) c.2541C>A (p.Phe847Leu) c.2406C>A (p.Phe802Leu) n.2702C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.71564150C= | CA1260100799 | DYSF | c.2448C= (p.Phe816=) c.2502C= (p.Phe834=) c.2451C= (p.Phe817=) c.2499C= (p.Phe833=) c.2544C= (p.Phe848=) c.2409C= (p.Phe803=) c.2541C= (p.Phe847=) c.2406C= (p.Phe802=) n.2702C= | |
2 | g.71564150C>G | CA347211491 | DYSF | c.2448C>G (p.Phe816Leu) c.2502C>G (p.Phe834Leu) c.2451C>G (p.Phe817Leu) c.2499C>G (p.Phe833Leu) c.2544C>G (p.Phe848Leu) c.2409C>G (p.Phe803Leu) c.2541C>G (p.Phe847Leu) c.2406C>G (p.Phe802Leu) n.2702C>G | |
2 | g.71564150C>T | CA426701709 | DYSF | c.2448C>T (p.Phe816=) c.2502C>T (p.Phe834=) c.2451C>T (p.Phe817=) c.2499C>T (p.Phe833=) c.2544C>T (p.Phe848=) c.2409C>T (p.Phe803=) c.2541C>T (p.Phe847=) c.2406C>T (p.Phe802=) n.2702C>T | |
2 | g.71564151T>A | CA347211492 | DYSF | c.2449T>A (p.Ser817Thr) c.2503T>A (p.Ser835Thr) c.2452T>A (p.Ser818Thr) c.2500T>A (p.Ser834Thr) c.2545T>A (p.Ser849Thr) c.2410T>A (p.Ser804Thr) c.2542T>A (p.Ser848Thr) c.2407T>A (p.Ser803Thr) n.2703T>A | |
2 | g.71564151T>C | CA347211493 | DYSF | c.2449T>C (p.Ser817Pro) c.2503T>C (p.Ser835Pro) c.2452T>C (p.Ser818Pro) c.2500T>C (p.Ser834Pro) c.2545T>C (p.Ser849Pro) c.2410T>C (p.Ser804Pro) c.2542T>C (p.Ser848Pro) c.2407T>C (p.Ser803Pro) n.2703T>C | |
2 | g.71564151T>G | CA347211497 | DYSF | c.2449T>G (p.Ser817Ala) c.2503T>G (p.Ser835Ala) c.2452T>G (p.Ser818Ala) c.2500T>G (p.Ser834Ala) c.2545T>G (p.Ser849Ala) c.2410T>G (p.Ser804Ala) c.2542T>G (p.Ser848Ala) c.2407T>G (p.Ser803Ala) n.2703T>G | |
2 | g.71564152C>A | CA347211500 | DYSF | c.2450C>A (p.Ser817Tyr) c.2504C>A (p.Ser835Tyr) c.2453C>A (p.Ser818Tyr) c.2501C>A (p.Ser834Tyr) c.2546C>A (p.Ser849Tyr) c.2411C>A (p.Ser804Tyr) c.2543C>A (p.Ser848Tyr) c.2408C>A (p.Ser803Tyr) n.2704C>A | |
2 | g.71564152C= | CA1260100801 | DYSF | c.2450C= (p.Ser817=) c.2504C= (p.Ser835=) c.2453C= (p.Ser818=) c.2501C= (p.Ser834=) c.2546C= (p.Ser849=) c.2411C= (p.Ser804=) c.2543C= (p.Ser848=) c.2408C= (p.Ser803=) n.2704C= | |
2 | g.71564152C>G | CA347211501 | DYSF | c.2450C>G (p.Ser817Cys) c.2504C>G (p.Ser835Cys) c.2453C>G (p.Ser818Cys) c.2501C>G (p.Ser834Cys) c.2546C>G (p.Ser849Cys) c.2411C>G (p.Ser804Cys) c.2543C>G (p.Ser848Cys) c.2408C>G (p.Ser803Cys) n.2704C>G | |
2 | g.71564152C>T | CA49742397 | DYSF | c.2450C>T (p.Ser817Phe) c.2504C>T (p.Ser835Phe) c.2453C>T (p.Ser818Phe) c.2501C>T (p.Ser834Phe) c.2546C>T (p.Ser849Phe) c.2411C>T (p.Ser804Phe) c.2543C>T (p.Ser848Phe) c.2408C>T (p.Ser803Phe) n.2704C>T | dbSNP gnomAD v4 |
2 | g.71564153C>A | CA426701710 | DYSF | c.2451C>A (p.Ser817=) c.2505C>A (p.Ser835=) c.2454C>A (p.Ser818=) c.2502C>A (p.Ser834=) c.2547C>A (p.Ser849=) c.2412C>A (p.Ser804=) c.2544C>A (p.Ser848=) c.2409C>A (p.Ser803=) n.2705C>A | |
2 | g.71564153C>G | CA426701711 | DYSF | c.2451C>G (p.Ser817=) c.2505C>G (p.Ser835=) c.2454C>G (p.Ser818=) c.2502C>G (p.Ser834=) c.2547C>G (p.Ser849=) c.2412C>G (p.Ser804=) c.2544C>G (p.Ser848=) c.2409C>G (p.Ser803=) n.2705C>G | |
2 | g.71564153C>T | CA426701712 | DYSF | c.2451C>T (p.Ser817=) c.2505C>T (p.Ser835=) c.2454C>T (p.Ser818=) c.2502C>T (p.Ser834=) c.2547C>T (p.Ser849=) c.2412C>T (p.Ser804=) c.2544C>T (p.Ser848=) c.2409C>T (p.Ser803=) n.2705C>T | gnomAD v4 |