| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.71679092_71679100del | CA1260156834 | DYSF | c.3334_3342del (p.Pro1112_Lys1114del) c.2551_2559del (p.Pro851_Lys853del) c.2659_2667del (p.Pro887_Lys889del) c.5803_5811del (p.Pro1935_Lys1937del) c.5920_5928del (p.Pro1974_Lys1976del) c.5806_5814del (p.Pro1936_Lys1938del) c.5869_5877del (p.Pro1957_Lys1959del) c.5917_5925del (p.Pro1973_Lys1975del) c.5899_5907del (p.Pro1967_Lys1969del) c.5827_5835del (p.Pro1943_Lys1945del) c.5854_5862del (p.Pro1952_Lys1954del) c.5857_5865del (p.Pro1953_Lys1955del) c.5896_5904del (p.Pro1966_Lys1968del) c.5866_5874del (p.Pro1956_Lys1958del) n.2688_2696del c.5761_5769del (p.Pro1921_Lys1923del) c.5824_5832del (p.Pro1942_Lys1944del) c.5764_5772del (p.Pro1922_Lys1924del) c.5962_5970del (p.Pro1988_Lys1990del) c.5959_5967del (p.Pro1987_Lys1989del) | dbSNP gnomAD v4 |
| 2 | g.71679102_71679110dup | CA2580611655 | DYSF | c.3344_3352dup (p.Lys1117_Lys1118insThrAlaLys) c.2561_2569dup (p.Lys856_Lys857insThrAlaLys) c.2669_2677dup (p.Lys892_Lys893insThrAlaLys) c.5813_5821dup (p.Lys1940_Lys1941insThrAlaLys) c.5930_5938dup (p.Lys1979_Lys1980insThrAlaLys) c.5816_5824dup (p.Lys1941_Lys1942insThrAlaLys) c.5879_5887dup (p.Lys1962_Lys1963insThrAlaLys) c.5927_5935dup (p.Lys1978_Lys1979insThrAlaLys) c.5909_5917dup (p.Lys1972_Lys1973insThrAlaLys) c.5837_5845dup (p.Lys1948_Lys1949insThrAlaLys) c.5864_5872dup (p.Lys1957_Lys1958insThrAlaLys) c.5867_5875dup (p.Lys1958_Lys1959insThrAlaLys) c.5906_5914dup (p.Lys1971_Lys1972insThrAlaLys) c.5876_5884dup (p.Lys1961_Lys1962insThrAlaLys) n.2698_2706dup c.5771_5779dup (p.Lys1926_Lys1927insThrAlaLys) c.5834_5842dup (p.Lys1947_Lys1948insThrAlaLys) c.5774_5782dup (p.Lys1927_Lys1928insThrAlaLys) c.5972_5980dup (p.Lys1993_Lys1994insThrAlaLys) c.5969_5977dup (p.Lys1992_Lys1993insThrAlaLys) | ClinVar dbSNP |
| 2 | g.71679102_71679110del | CA1139532924 | DYSF | c.3344_3352del (p.Thr1115_Lys1117del) c.2561_2569del (p.Thr854_Lys856del) c.2669_2677del (p.Thr890_Lys892del) c.5813_5821del (p.Thr1938_Lys1940del) c.5930_5938del (p.Thr1977_Lys1979del) c.5816_5824del (p.Thr1939_Lys1941del) c.5879_5887del (p.Thr1960_Lys1962del) c.5927_5935del (p.Thr1976_Lys1978del) c.5909_5917del (p.Thr1970_Lys1972del) c.5837_5845del (p.Thr1946_Lys1948del) c.5864_5872del (p.Thr1955_Lys1957del) c.5867_5875del (p.Thr1956_Lys1958del) c.5906_5914del (p.Thr1969_Lys1971del) c.5876_5884del (p.Thr1959_Lys1961del) n.2698_2706del c.5771_5779del (p.Thr1924_Lys1926del) c.5834_5842del (p.Thr1945_Lys1947del) c.5774_5782del (p.Thr1925_Lys1927del) c.5972_5980del (p.Thr1991_Lys1993del) c.5969_5977del (p.Thr1990_Lys1992del) | ClinVar |
| 2 | g.71679097C>A | CA426704690 | DYSF | c.3339C>A (p.Ala1113=) c.2556C>A (p.Ala852=) c.2664C>A (p.Ala888=) c.5808C>A (p.Ala1936=) c.5925C>A (p.Ala1975=) c.5811C>A (p.Ala1937=) c.5874C>A (p.Ala1958=) c.5922C>A (p.Ala1974=) c.5904C>A (p.Ala1968=) c.5832C>A (p.Ala1944=) c.5859C>A (p.Ala1953=) c.5862C>A (p.Ala1954=) c.5901C>A (p.Ala1967=) c.5871C>A (p.Ala1957=) n.2693C>A c.5766C>A (p.Ala1922=) c.5829C>A (p.Ala1943=) c.5769C>A (p.Ala1923=) c.5967C>A (p.Ala1989=) c.5964C>A (p.Ala1988=) | |
| 2 | g.71679097C>G | CA426704692 | DYSF | c.3339C>G (p.Ala1113=) c.2556C>G (p.Ala852=) c.2664C>G (p.Ala888=) c.5808C>G (p.Ala1936=) c.5925C>G (p.Ala1975=) c.5811C>G (p.Ala1937=) c.5874C>G (p.Ala1958=) c.5922C>G (p.Ala1974=) c.5904C>G (p.Ala1968=) c.5832C>G (p.Ala1944=) c.5859C>G (p.Ala1953=) c.5862C>G (p.Ala1954=) c.5901C>G (p.Ala1967=) c.5871C>G (p.Ala1957=) n.2693C>G c.5766C>G (p.Ala1922=) c.5829C>G (p.Ala1943=) c.5769C>G (p.Ala1923=) c.5967C>G (p.Ala1989=) c.5964C>G (p.Ala1988=) | |
| 2 | g.71679097C>T | CA426704691 | DYSF | c.3339C>T (p.Ala1113=) c.2556C>T (p.Ala852=) c.2664C>T (p.Ala888=) c.5808C>T (p.Ala1936=) c.5925C>T (p.Ala1975=) c.5811C>T (p.Ala1937=) c.5874C>T (p.Ala1958=) c.5922C>T (p.Ala1974=) c.5904C>T (p.Ala1968=) c.5832C>T (p.Ala1944=) c.5859C>T (p.Ala1953=) c.5862C>T (p.Ala1954=) c.5901C>T (p.Ala1967=) c.5871C>T (p.Ala1957=) n.2693C>T c.5766C>T (p.Ala1922=) c.5829C>T (p.Ala1943=) c.5769C>T (p.Ala1923=) c.5967C>T (p.Ala1989=) c.5964C>T (p.Ala1988=) | |
| 2 | g.71679098A= | CA1260156843 | DYSF | c.3340A= (p.Lys1114=) c.2557A= (p.Lys853=) c.2665A= (p.Lys889=) c.5809A= (p.Lys1937=) c.5926A= (p.Lys1976=) c.5812A= (p.Lys1938=) c.5875A= (p.Lys1959=) c.5923A= (p.Lys1975=) c.5905A= (p.Lys1969=) c.5833A= (p.Lys1945=) c.5860A= (p.Lys1954=) c.5863A= (p.Lys1955=) c.5902A= (p.Lys1968=) c.5872A= (p.Lys1958=) n.2694A= c.5767A= (p.Lys1923=) c.5830A= (p.Lys1944=) c.5770A= (p.Lys1924=) c.5968A= (p.Lys1990=) c.5965A= (p.Lys1989=) | |
| 2 | g.71679098A>C | CA347226295 | DYSF | c.3340A>C (p.Lys1114Gln) c.2557A>C (p.Lys853Gln) c.2665A>C (p.Lys889Gln) c.5809A>C (p.Lys1937Gln) c.5926A>C (p.Lys1976Gln) c.5812A>C (p.Lys1938Gln) c.5875A>C (p.Lys1959Gln) c.5923A>C (p.Lys1975Gln) c.5905A>C (p.Lys1969Gln) c.5833A>C (p.Lys1945Gln) c.5860A>C (p.Lys1954Gln) c.5863A>C (p.Lys1955Gln) c.5902A>C (p.Lys1968Gln) c.5872A>C (p.Lys1958Gln) n.2694A>C c.5767A>C (p.Lys1923Gln) c.5830A>C (p.Lys1944Gln) c.5770A>C (p.Lys1924Gln) c.5968A>C (p.Lys1990Gln) c.5965A>C (p.Lys1989Gln) | |
| 2 | g.71679098A>G | CA347226297 | DYSF | c.3340A>G (p.Lys1114Glu) c.2557A>G (p.Lys853Glu) c.2665A>G (p.Lys889Glu) c.5809A>G (p.Lys1937Glu) c.5926A>G (p.Lys1976Glu) c.5812A>G (p.Lys1938Glu) c.5875A>G (p.Lys1959Glu) c.5923A>G (p.Lys1975Glu) c.5905A>G (p.Lys1969Glu) c.5833A>G (p.Lys1945Glu) c.5860A>G (p.Lys1954Glu) c.5863A>G (p.Lys1955Glu) c.5902A>G (p.Lys1968Glu) c.5872A>G (p.Lys1958Glu) n.2694A>G c.5767A>G (p.Lys1923Glu) c.5830A>G (p.Lys1944Glu) c.5770A>G (p.Lys1924Glu) c.5968A>G (p.Lys1990Glu) c.5965A>G (p.Lys1989Glu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.71679098A>T | CA347226296 | DYSF | c.3340A>T (p.Lys1114Ter) c.2557A>T (p.Lys853Ter) c.2665A>T (p.Lys889Ter) c.5809A>T (p.Lys1937Ter) c.5926A>T (p.Lys1976Ter) c.5812A>T (p.Lys1938Ter) c.5875A>T (p.Lys1959Ter) c.5923A>T (p.Lys1975Ter) c.5905A>T (p.Lys1969Ter) c.5833A>T (p.Lys1945Ter) c.5860A>T (p.Lys1954Ter) c.5863A>T (p.Lys1955Ter) c.5902A>T (p.Lys1968Ter) c.5872A>T (p.Lys1958Ter) n.2694A>T c.5767A>T (p.Lys1923Ter) c.5830A>T (p.Lys1944Ter) c.5770A>T (p.Lys1924Ter) c.5968A>T (p.Lys1990Ter) c.5965A>T (p.Lys1989Ter) | |
| 2 | g.71679099A>C | CA347226298 | DYSF | c.3341A>C (p.Lys1114Thr) c.2558A>C (p.Lys853Thr) c.2666A>C (p.Lys889Thr) c.5810A>C (p.Lys1937Thr) c.5927A>C (p.Lys1976Thr) c.5813A>C (p.Lys1938Thr) c.5876A>C (p.Lys1959Thr) c.5924A>C (p.Lys1975Thr) c.5906A>C (p.Lys1969Thr) c.5834A>C (p.Lys1945Thr) c.5861A>C (p.Lys1954Thr) c.5864A>C (p.Lys1955Thr) c.5903A>C (p.Lys1968Thr) c.5873A>C (p.Lys1958Thr) n.2695A>C c.5768A>C (p.Lys1923Thr) c.5831A>C (p.Lys1944Thr) c.5771A>C (p.Lys1924Thr) c.5969A>C (p.Lys1990Thr) c.5966A>C (p.Lys1989Thr) | |
| 2 | g.71679099A>G | CA347226300 | DYSF | c.3341A>G (p.Lys1114Arg) c.2558A>G (p.Lys853Arg) c.2666A>G (p.Lys889Arg) c.5810A>G (p.Lys1937Arg) c.5927A>G (p.Lys1976Arg) c.5813A>G (p.Lys1938Arg) c.5876A>G (p.Lys1959Arg) c.5924A>G (p.Lys1975Arg) c.5906A>G (p.Lys1969Arg) c.5834A>G (p.Lys1945Arg) c.5861A>G (p.Lys1954Arg) c.5864A>G (p.Lys1955Arg) c.5903A>G (p.Lys1968Arg) c.5873A>G (p.Lys1958Arg) n.2695A>G c.5768A>G (p.Lys1923Arg) c.5831A>G (p.Lys1944Arg) c.5771A>G (p.Lys1924Arg) c.5969A>G (p.Lys1990Arg) c.5966A>G (p.Lys1989Arg) | |
| 2 | g.71679099A>T | CA347226299 | DYSF | c.3341A>T (p.Lys1114Met) c.2558A>T (p.Lys853Met) c.2666A>T (p.Lys889Met) c.5810A>T (p.Lys1937Met) c.5927A>T (p.Lys1976Met) c.5813A>T (p.Lys1938Met) c.5876A>T (p.Lys1959Met) c.5924A>T (p.Lys1975Met) c.5906A>T (p.Lys1969Met) c.5834A>T (p.Lys1945Met) c.5861A>T (p.Lys1954Met) c.5864A>T (p.Lys1955Met) c.5903A>T (p.Lys1968Met) c.5873A>T (p.Lys1958Met) n.2695A>T c.5768A>T (p.Lys1923Met) c.5831A>T (p.Lys1944Met) c.5771A>T (p.Lys1924Met) c.5969A>T (p.Lys1990Met) c.5966A>T (p.Lys1989Met) | |
| 2 | g.71679100G>A | CA426704693 | DYSF | c.3342G>A (p.Lys1114=) c.2559G>A (p.Lys853=) c.2667G>A (p.Lys889=) c.5811G>A (p.Lys1937=) c.5928G>A (p.Lys1976=) c.5814G>A (p.Lys1938=) c.5877G>A (p.Lys1959=) c.5925G>A (p.Lys1975=) c.5907G>A (p.Lys1969=) c.5835G>A (p.Lys1945=) c.5862G>A (p.Lys1954=) c.5865G>A (p.Lys1955=) c.5904G>A (p.Lys1968=) c.5874G>A (p.Lys1958=) n.2696G>A c.5769G>A (p.Lys1923=) c.5832G>A (p.Lys1944=) c.5772G>A (p.Lys1924=) c.5970G>A (p.Lys1990=) c.5967G>A (p.Lys1989=) | |
| 2 | g.71679100G>C | CA347226301 | DYSF | c.3342G>C (p.Lys1114Asn) c.2559G>C (p.Lys853Asn) c.2667G>C (p.Lys889Asn) c.5811G>C (p.Lys1937Asn) c.5928G>C (p.Lys1976Asn) c.5814G>C (p.Lys1938Asn) c.5877G>C (p.Lys1959Asn) c.5925G>C (p.Lys1975Asn) c.5907G>C (p.Lys1969Asn) c.5835G>C (p.Lys1945Asn) c.5862G>C (p.Lys1954Asn) c.5865G>C (p.Lys1955Asn) c.5904G>C (p.Lys1968Asn) c.5874G>C (p.Lys1958Asn) n.2696G>C c.5769G>C (p.Lys1923Asn) c.5832G>C (p.Lys1944Asn) c.5772G>C (p.Lys1924Asn) c.5970G>C (p.Lys1990Asn) c.5967G>C (p.Lys1989Asn) | |
| 2 | g.71679100G>T | CA347226302 | DYSF | c.3342G>T (p.Lys1114Asn) c.2559G>T (p.Lys853Asn) c.2667G>T (p.Lys889Asn) c.5811G>T (p.Lys1937Asn) c.5928G>T (p.Lys1976Asn) c.5814G>T (p.Lys1938Asn) c.5877G>T (p.Lys1959Asn) c.5925G>T (p.Lys1975Asn) c.5907G>T (p.Lys1969Asn) c.5835G>T (p.Lys1945Asn) c.5862G>T (p.Lys1954Asn) c.5865G>T (p.Lys1955Asn) c.5904G>T (p.Lys1968Asn) c.5874G>T (p.Lys1958Asn) n.2696G>T c.5769G>T (p.Lys1923Asn) c.5832G>T (p.Lys1944Asn) c.5772G>T (p.Lys1924Asn) c.5970G>T (p.Lys1990Asn) c.5967G>T (p.Lys1989Asn) | |
| 2 | g.71679101A= | CA1260156844 | DYSF | c.3343A= (p.Thr1115=) c.2560A= (p.Thr854=) c.2668A= (p.Thr890=) c.5812A= (p.Thr1938=) c.5929A= (p.Thr1977=) c.5815A= (p.Thr1939=) c.5878A= (p.Thr1960=) c.5926A= (p.Thr1976=) c.5908A= (p.Thr1970=) c.5836A= (p.Thr1946=) c.5863A= (p.Thr1955=) c.5866A= (p.Thr1956=) c.5905A= (p.Thr1969=) c.5875A= (p.Thr1959=) n.2697A= c.5770A= (p.Thr1924=) c.5833A= (p.Thr1945=) c.5773A= (p.Thr1925=) c.5971A= (p.Thr1991=) c.5968A= (p.Thr1990=) | |
| 2 | g.71679101A>C | CA347226303 | DYSF | c.3343A>C (p.Thr1115Pro) c.2560A>C (p.Thr854Pro) c.2668A>C (p.Thr890Pro) c.5812A>C (p.Thr1938Pro) c.5929A>C (p.Thr1977Pro) c.5815A>C (p.Thr1939Pro) c.5878A>C (p.Thr1960Pro) c.5926A>C (p.Thr1976Pro) c.5908A>C (p.Thr1970Pro) c.5836A>C (p.Thr1946Pro) c.5863A>C (p.Thr1955Pro) c.5866A>C (p.Thr1956Pro) c.5905A>C (p.Thr1969Pro) c.5875A>C (p.Thr1959Pro) n.2697A>C c.5770A>C (p.Thr1924Pro) c.5833A>C (p.Thr1945Pro) c.5773A>C (p.Thr1925Pro) c.5971A>C (p.Thr1991Pro) c.5968A>C (p.Thr1990Pro) | |
| 2 | g.71679101A>G | CA347226304 | DYSF | c.3343A>G (p.Thr1115Ala) c.2560A>G (p.Thr854Ala) c.2668A>G (p.Thr890Ala) c.5812A>G (p.Thr1938Ala) c.5929A>G (p.Thr1977Ala) c.5815A>G (p.Thr1939Ala) c.5878A>G (p.Thr1960Ala) c.5926A>G (p.Thr1976Ala) c.5908A>G (p.Thr1970Ala) c.5836A>G (p.Thr1946Ala) c.5863A>G (p.Thr1955Ala) c.5866A>G (p.Thr1956Ala) c.5905A>G (p.Thr1969Ala) c.5875A>G (p.Thr1959Ala) n.2697A>G c.5770A>G (p.Thr1924Ala) c.5833A>G (p.Thr1945Ala) c.5773A>G (p.Thr1925Ala) c.5971A>G (p.Thr1991Ala) c.5968A>G (p.Thr1990Ala) | dbSNP |
| 2 | g.71679101A>T | CA347226305 | DYSF | c.3343A>T (p.Thr1115Ser) c.2560A>T (p.Thr854Ser) c.2668A>T (p.Thr890Ser) c.5812A>T (p.Thr1938Ser) c.5929A>T (p.Thr1977Ser) c.5815A>T (p.Thr1939Ser) c.5878A>T (p.Thr1960Ser) c.5926A>T (p.Thr1976Ser) c.5908A>T (p.Thr1970Ser) c.5836A>T (p.Thr1946Ser) c.5863A>T (p.Thr1955Ser) c.5866A>T (p.Thr1956Ser) c.5905A>T (p.Thr1969Ser) c.5875A>T (p.Thr1959Ser) n.2697A>T c.5770A>T (p.Thr1924Ser) c.5833A>T (p.Thr1945Ser) c.5773A>T (p.Thr1925Ser) c.5971A>T (p.Thr1991Ser) c.5968A>T (p.Thr1990Ser) | |
| 2 | g.71679102C>A | CA347226306 | DYSF | c.3344C>A (p.Thr1115Lys) c.2561C>A (p.Thr854Lys) c.2669C>A (p.Thr890Lys) c.5813C>A (p.Thr1938Lys) c.5930C>A (p.Thr1977Lys) c.5816C>A (p.Thr1939Lys) c.5879C>A (p.Thr1960Lys) c.5927C>A (p.Thr1976Lys) c.5909C>A (p.Thr1970Lys) c.5837C>A (p.Thr1946Lys) c.5864C>A (p.Thr1955Lys) c.5867C>A (p.Thr1956Lys) c.5906C>A (p.Thr1969Lys) c.5876C>A (p.Thr1959Lys) n.2698C>A c.5771C>A (p.Thr1924Lys) c.5834C>A (p.Thr1945Lys) c.5774C>A (p.Thr1925Lys) c.5972C>A (p.Thr1991Lys) c.5969C>A (p.Thr1990Lys) | |
| 2 | g.71679102C= | CA1260156845 | DYSF | c.3344C= (p.Thr1115=) c.2561C= (p.Thr854=) c.2669C= (p.Thr890=) c.5813C= (p.Thr1938=) c.5930C= (p.Thr1977=) c.5816C= (p.Thr1939=) c.5879C= (p.Thr1960=) c.5927C= (p.Thr1976=) c.5909C= (p.Thr1970=) c.5837C= (p.Thr1946=) c.5864C= (p.Thr1955=) c.5867C= (p.Thr1956=) c.5906C= (p.Thr1969=) c.5876C= (p.Thr1959=) n.2698C= c.5771C= (p.Thr1924=) c.5834C= (p.Thr1945=) c.5774C= (p.Thr1925=) c.5972C= (p.Thr1991=) c.5969C= (p.Thr1990=) | |
| 2 | g.71679102C>G | CA347226307 | DYSF | c.3344C>G (p.Thr1115Arg) c.2561C>G (p.Thr854Arg) c.2669C>G (p.Thr890Arg) c.5813C>G (p.Thr1938Arg) c.5930C>G (p.Thr1977Arg) c.5816C>G (p.Thr1939Arg) c.5879C>G (p.Thr1960Arg) c.5927C>G (p.Thr1976Arg) c.5909C>G (p.Thr1970Arg) c.5837C>G (p.Thr1946Arg) c.5864C>G (p.Thr1955Arg) c.5867C>G (p.Thr1956Arg) c.5906C>G (p.Thr1969Arg) c.5876C>G (p.Thr1959Arg) n.2698C>G c.5771C>G (p.Thr1924Arg) c.5834C>G (p.Thr1945Arg) c.5774C>G (p.Thr1925Arg) c.5972C>G (p.Thr1991Arg) c.5969C>G (p.Thr1990Arg) | |
| 2 | g.71679102C>T | CA1707552 | DYSF | c.3344C>T (p.Thr1115Ile) c.2561C>T (p.Thr854Ile) c.2669C>T (p.Thr890Ile) c.5813C>T (p.Thr1938Ile) c.5930C>T (p.Thr1977Ile) c.5816C>T (p.Thr1939Ile) c.5879C>T (p.Thr1960Ile) c.5927C>T (p.Thr1976Ile) c.5909C>T (p.Thr1970Ile) c.5837C>T (p.Thr1946Ile) c.5864C>T (p.Thr1955Ile) c.5867C>T (p.Thr1956Ile) c.5906C>T (p.Thr1969Ile) c.5876C>T (p.Thr1959Ile) n.2698C>T c.5771C>T (p.Thr1924Ile) c.5834C>T (p.Thr1945Ile) c.5774C>T (p.Thr1925Ile) c.5972C>T (p.Thr1991Ile) c.5969C>T (p.Thr1990Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71679103A>C | CA426704694 | DYSF | c.3345A>C (p.Thr1115=) c.2562A>C (p.Thr854=) c.2670A>C (p.Thr890=) c.5814A>C (p.Thr1938=) c.5931A>C (p.Thr1977=) c.5817A>C (p.Thr1939=) c.5880A>C (p.Thr1960=) c.5928A>C (p.Thr1976=) c.5910A>C (p.Thr1970=) c.5838A>C (p.Thr1946=) c.5865A>C (p.Thr1955=) c.5868A>C (p.Thr1956=) c.5907A>C (p.Thr1969=) c.5877A>C (p.Thr1959=) n.2699A>C c.5772A>C (p.Thr1924=) c.5835A>C (p.Thr1945=) c.5775A>C (p.Thr1925=) c.5973A>C (p.Thr1991=) c.5970A>C (p.Thr1990=) | |
| 2 | g.71679103A>G | CA426704695 | DYSF | c.3345A>G (p.Thr1115=) c.2562A>G (p.Thr854=) c.2670A>G (p.Thr890=) c.5814A>G (p.Thr1938=) c.5931A>G (p.Thr1977=) c.5817A>G (p.Thr1939=) c.5880A>G (p.Thr1960=) c.5928A>G (p.Thr1976=) c.5910A>G (p.Thr1970=) c.5838A>G (p.Thr1946=) c.5865A>G (p.Thr1955=) c.5868A>G (p.Thr1956=) c.5907A>G (p.Thr1969=) c.5877A>G (p.Thr1959=) n.2699A>G c.5772A>G (p.Thr1924=) c.5835A>G (p.Thr1945=) c.5775A>G (p.Thr1925=) c.5973A>G (p.Thr1991=) c.5970A>G (p.Thr1990=) | |
| 2 | g.71679103A>T | CA426704696 | DYSF | c.3345A>T (p.Thr1115=) c.2562A>T (p.Thr854=) c.2670A>T (p.Thr890=) c.5814A>T (p.Thr1938=) c.5931A>T (p.Thr1977=) c.5817A>T (p.Thr1939=) c.5880A>T (p.Thr1960=) c.5928A>T (p.Thr1976=) c.5910A>T (p.Thr1970=) c.5838A>T (p.Thr1946=) c.5865A>T (p.Thr1955=) c.5868A>T (p.Thr1956=) c.5907A>T (p.Thr1969=) c.5877A>T (p.Thr1959=) n.2699A>T c.5772A>T (p.Thr1924=) c.5835A>T (p.Thr1945=) c.5775A>T (p.Thr1925=) c.5973A>T (p.Thr1991=) c.5970A>T (p.Thr1990=) | |
| 2 | g.71679104G>A | CA1707553 | DYSF | c.3346G>A (p.Ala1116Thr) c.2563G>A (p.Ala855Thr) c.2671G>A (p.Ala891Thr) c.5815G>A (p.Ala1939Thr) c.5932G>A (p.Ala1978Thr) c.5818G>A (p.Ala1940Thr) c.5881G>A (p.Ala1961Thr) c.5929G>A (p.Ala1977Thr) c.5911G>A (p.Ala1971Thr) c.5839G>A (p.Ala1947Thr) c.5866G>A (p.Ala1956Thr) c.5869G>A (p.Ala1957Thr) c.5908G>A (p.Ala1970Thr) c.5878G>A (p.Ala1960Thr) n.2700G>A c.5773G>A (p.Ala1925Thr) c.5836G>A (p.Ala1946Thr) c.5776G>A (p.Ala1926Thr) c.5974G>A (p.Ala1992Thr) c.5971G>A (p.Ala1991Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.71679104G>C | CA347226308 | DYSF | c.3346G>C (p.Ala1116Pro) c.2563G>C (p.Ala855Pro) c.2671G>C (p.Ala891Pro) c.5815G>C (p.Ala1939Pro) c.5932G>C (p.Ala1978Pro) c.5818G>C (p.Ala1940Pro) c.5881G>C (p.Ala1961Pro) c.5929G>C (p.Ala1977Pro) c.5911G>C (p.Ala1971Pro) c.5839G>C (p.Ala1947Pro) c.5866G>C (p.Ala1956Pro) c.5869G>C (p.Ala1957Pro) c.5908G>C (p.Ala1970Pro) c.5878G>C (p.Ala1960Pro) n.2700G>C c.5773G>C (p.Ala1925Pro) c.5836G>C (p.Ala1946Pro) c.5776G>C (p.Ala1926Pro) c.5974G>C (p.Ala1992Pro) c.5971G>C (p.Ala1991Pro) | |
| 2 | g.71679104G= | CA1260156846 | DYSF | c.3346G= (p.Ala1116=) c.2563G= (p.Ala855=) c.2671G= (p.Ala891=) c.5815G= (p.Ala1939=) c.5932G= (p.Ala1978=) c.5818G= (p.Ala1940=) c.5881G= (p.Ala1961=) c.5929G= (p.Ala1977=) c.5911G= (p.Ala1971=) c.5839G= (p.Ala1947=) c.5866G= (p.Ala1956=) c.5869G= (p.Ala1957=) c.5908G= (p.Ala1970=) c.5878G= (p.Ala1960=) n.2700G= c.5773G= (p.Ala1925=) c.5836G= (p.Ala1946=) c.5776G= (p.Ala1926=) c.5974G= (p.Ala1992=) c.5971G= (p.Ala1991=) | |
| 2 | g.71679104G>T | CA347226309 | DYSF | c.3346G>T (p.Ala1116Ser) c.2563G>T (p.Ala855Ser) c.2671G>T (p.Ala891Ser) c.5815G>T (p.Ala1939Ser) c.5932G>T (p.Ala1978Ser) c.5818G>T (p.Ala1940Ser) c.5881G>T (p.Ala1961Ser) c.5929G>T (p.Ala1977Ser) c.5911G>T (p.Ala1971Ser) c.5839G>T (p.Ala1947Ser) c.5866G>T (p.Ala1956Ser) c.5869G>T (p.Ala1957Ser) c.5908G>T (p.Ala1970Ser) c.5878G>T (p.Ala1960Ser) n.2700G>T c.5773G>T (p.Ala1925Ser) c.5836G>T (p.Ala1946Ser) c.5776G>T (p.Ala1926Ser) c.5974G>T (p.Ala1992Ser) c.5971G>T (p.Ala1991Ser) | |
| 2 | g.71679105C>A | CA347226312 | DYSF | c.3347C>A (p.Ala1116Asp) c.2564C>A (p.Ala855Asp) c.2672C>A (p.Ala891Asp) c.5816C>A (p.Ala1939Asp) c.5933C>A (p.Ala1978Asp) c.5819C>A (p.Ala1940Asp) c.5882C>A (p.Ala1961Asp) c.5930C>A (p.Ala1977Asp) c.5912C>A (p.Ala1971Asp) c.5840C>A (p.Ala1947Asp) c.5867C>A (p.Ala1956Asp) c.5870C>A (p.Ala1957Asp) c.5909C>A (p.Ala1970Asp) c.5879C>A (p.Ala1960Asp) n.2701C>A c.5774C>A (p.Ala1925Asp) c.5837C>A (p.Ala1946Asp) c.5777C>A (p.Ala1926Asp) c.5975C>A (p.Ala1992Asp) c.5972C>A (p.Ala1991Asp) | |
| 2 | g.71679105C>G | CA347226311 | DYSF | c.3347C>G (p.Ala1116Gly) c.2564C>G (p.Ala855Gly) c.2672C>G (p.Ala891Gly) c.5816C>G (p.Ala1939Gly) c.5933C>G (p.Ala1978Gly) c.5819C>G (p.Ala1940Gly) c.5882C>G (p.Ala1961Gly) c.5930C>G (p.Ala1977Gly) c.5912C>G (p.Ala1971Gly) c.5840C>G (p.Ala1947Gly) c.5867C>G (p.Ala1956Gly) c.5870C>G (p.Ala1957Gly) c.5909C>G (p.Ala1970Gly) c.5879C>G (p.Ala1960Gly) n.2701C>G c.5774C>G (p.Ala1925Gly) c.5837C>G (p.Ala1946Gly) c.5777C>G (p.Ala1926Gly) c.5975C>G (p.Ala1992Gly) c.5972C>G (p.Ala1991Gly) | |
| 2 | g.71679105C>T | CA347226310 | DYSF | c.3347C>T (p.Ala1116Val) c.2564C>T (p.Ala855Val) c.2672C>T (p.Ala891Val) c.5816C>T (p.Ala1939Val) c.5933C>T (p.Ala1978Val) c.5819C>T (p.Ala1940Val) c.5882C>T (p.Ala1961Val) c.5930C>T (p.Ala1977Val) c.5912C>T (p.Ala1971Val) c.5840C>T (p.Ala1947Val) c.5867C>T (p.Ala1956Val) c.5870C>T (p.Ala1957Val) c.5909C>T (p.Ala1970Val) c.5879C>T (p.Ala1960Val) n.2701C>T c.5774C>T (p.Ala1925Val) c.5837C>T (p.Ala1946Val) c.5777C>T (p.Ala1926Val) c.5975C>T (p.Ala1992Val) c.5972C>T (p.Ala1991Val) | |
| 2 | g.71679106C>A | CA10606158 | DYSF | c.3348C>A (p.Ala1116=) c.2565C>A (p.Ala855=) c.2673C>A (p.Ala891=) c.5817C>A (p.Ala1939=) c.5934C>A (p.Ala1978=) c.5820C>A (p.Ala1940=) c.5883C>A (p.Ala1961=) c.5931C>A (p.Ala1977=) c.5913C>A (p.Ala1971=) c.5841C>A (p.Ala1947=) c.5868C>A (p.Ala1956=) c.5871C>A (p.Ala1957=) c.5910C>A (p.Ala1970=) c.5880C>A (p.Ala1960=) n.2702C>A c.5775C>A (p.Ala1925=) c.5838C>A (p.Ala1946=) c.5778C>A (p.Ala1926=) c.5976C>A (p.Ala1992=) c.5973C>A (p.Ala1991=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.71679106C= | CA1260156847 | DYSF | c.3348C= (p.Ala1116=) c.2565C= (p.Ala855=) c.2673C= (p.Ala891=) c.5817C= (p.Ala1939=) c.5934C= (p.Ala1978=) c.5820C= (p.Ala1940=) c.5883C= (p.Ala1961=) c.5931C= (p.Ala1977=) c.5913C= (p.Ala1971=) c.5841C= (p.Ala1947=) c.5868C= (p.Ala1956=) c.5871C= (p.Ala1957=) c.5910C= (p.Ala1970=) c.5880C= (p.Ala1960=) n.2702C= c.5775C= (p.Ala1925=) c.5838C= (p.Ala1946=) c.5778C= (p.Ala1926=) c.5976C= (p.Ala1992=) c.5973C= (p.Ala1991=) | |
| 2 | g.71679106C>G | CA426704697 | DYSF | c.3348C>G (p.Ala1116=) c.2565C>G (p.Ala855=) c.2673C>G (p.Ala891=) c.5817C>G (p.Ala1939=) c.5934C>G (p.Ala1978=) c.5820C>G (p.Ala1940=) c.5883C>G (p.Ala1961=) c.5931C>G (p.Ala1977=) c.5913C>G (p.Ala1971=) c.5841C>G (p.Ala1947=) c.5868C>G (p.Ala1956=) c.5871C>G (p.Ala1957=) c.5910C>G (p.Ala1970=) c.5880C>G (p.Ala1960=) n.2702C>G c.5775C>G (p.Ala1925=) c.5838C>G (p.Ala1946=) c.5778C>G (p.Ala1926=) c.5976C>G (p.Ala1992=) c.5973C>G (p.Ala1991=) | |
| 2 | g.71679106C>T | CA426704698 | DYSF | c.3348C>T (p.Ala1116=) c.2565C>T (p.Ala855=) c.2673C>T (p.Ala891=) c.5817C>T (p.Ala1939=) c.5934C>T (p.Ala1978=) c.5820C>T (p.Ala1940=) c.5883C>T (p.Ala1961=) c.5931C>T (p.Ala1977=) c.5913C>T (p.Ala1971=) c.5841C>T (p.Ala1947=) c.5868C>T (p.Ala1956=) c.5871C>T (p.Ala1957=) c.5910C>T (p.Ala1970=) c.5880C>T (p.Ala1960=) n.2702C>T c.5775C>T (p.Ala1925=) c.5838C>T (p.Ala1946=) c.5778C>T (p.Ala1926=) c.5976C>T (p.Ala1992=) c.5973C>T (p.Ala1991=) | ClinVar dbSNP |
| 2 | g.71679107A>C | CA347226313 | DYSF | c.3349A>C (p.Lys1117Gln) c.2566A>C (p.Lys856Gln) c.2674A>C (p.Lys892Gln) c.5818A>C (p.Lys1940Gln) c.5935A>C (p.Lys1979Gln) c.5821A>C (p.Lys1941Gln) c.5884A>C (p.Lys1962Gln) c.5932A>C (p.Lys1978Gln) c.5914A>C (p.Lys1972Gln) c.5842A>C (p.Lys1948Gln) c.5869A>C (p.Lys1957Gln) c.5872A>C (p.Lys1958Gln) c.5911A>C (p.Lys1971Gln) c.5881A>C (p.Lys1961Gln) n.2703A>C c.5776A>C (p.Lys1926Gln) c.5839A>C (p.Lys1947Gln) c.5779A>C (p.Lys1927Gln) c.5977A>C (p.Lys1993Gln) c.5974A>C (p.Lys1992Gln) | |
| 2 | g.71679107A>G | CA347226314 | DYSF | c.3349A>G (p.Lys1117Glu) c.2566A>G (p.Lys856Glu) c.2674A>G (p.Lys892Glu) c.5818A>G (p.Lys1940Glu) c.5935A>G (p.Lys1979Glu) c.5821A>G (p.Lys1941Glu) c.5884A>G (p.Lys1962Glu) c.5932A>G (p.Lys1978Glu) c.5914A>G (p.Lys1972Glu) c.5842A>G (p.Lys1948Glu) c.5869A>G (p.Lys1957Glu) c.5872A>G (p.Lys1958Glu) c.5911A>G (p.Lys1971Glu) c.5881A>G (p.Lys1961Glu) n.2703A>G c.5776A>G (p.Lys1926Glu) c.5839A>G (p.Lys1947Glu) c.5779A>G (p.Lys1927Glu) c.5977A>G (p.Lys1993Glu) c.5974A>G (p.Lys1992Glu) | dbSNP |
| 2 | g.71679107A>T | CA347226315 | DYSF | c.3349A>T (p.Lys1117Ter) c.2566A>T (p.Lys856Ter) c.2674A>T (p.Lys892Ter) c.5818A>T (p.Lys1940Ter) c.5935A>T (p.Lys1979Ter) c.5821A>T (p.Lys1941Ter) c.5884A>T (p.Lys1962Ter) c.5932A>T (p.Lys1978Ter) c.5914A>T (p.Lys1972Ter) c.5842A>T (p.Lys1948Ter) c.5869A>T (p.Lys1957Ter) c.5872A>T (p.Lys1958Ter) c.5911A>T (p.Lys1971Ter) c.5881A>T (p.Lys1961Ter) n.2703A>T c.5776A>T (p.Lys1926Ter) c.5839A>T (p.Lys1947Ter) c.5779A>T (p.Lys1927Ter) c.5977A>T (p.Lys1993Ter) c.5974A>T (p.Lys1992Ter) | |
| 2 | g.71679108A>C | CA347226316 | DYSF | c.3350A>C (p.Lys1117Thr) c.2567A>C (p.Lys856Thr) c.2675A>C (p.Lys892Thr) c.5819A>C (p.Lys1940Thr) c.5936A>C (p.Lys1979Thr) c.5822A>C (p.Lys1941Thr) c.5885A>C (p.Lys1962Thr) c.5933A>C (p.Lys1978Thr) c.5915A>C (p.Lys1972Thr) c.5843A>C (p.Lys1948Thr) c.5870A>C (p.Lys1957Thr) c.5873A>C (p.Lys1958Thr) c.5912A>C (p.Lys1971Thr) c.5882A>C (p.Lys1961Thr) n.2704A>C c.5777A>C (p.Lys1926Thr) c.5840A>C (p.Lys1947Thr) c.5780A>C (p.Lys1927Thr) c.5978A>C (p.Lys1993Thr) c.5975A>C (p.Lys1992Thr) | |
| 2 | g.71679108A>G | CA347226317 | DYSF | c.3350A>G (p.Lys1117Arg) c.2567A>G (p.Lys856Arg) c.2675A>G (p.Lys892Arg) c.5819A>G (p.Lys1940Arg) c.5936A>G (p.Lys1979Arg) c.5822A>G (p.Lys1941Arg) c.5885A>G (p.Lys1962Arg) c.5933A>G (p.Lys1978Arg) c.5915A>G (p.Lys1972Arg) c.5843A>G (p.Lys1948Arg) c.5870A>G (p.Lys1957Arg) c.5873A>G (p.Lys1958Arg) c.5912A>G (p.Lys1971Arg) c.5882A>G (p.Lys1961Arg) n.2704A>G c.5777A>G (p.Lys1926Arg) c.5840A>G (p.Lys1947Arg) c.5780A>G (p.Lys1927Arg) c.5978A>G (p.Lys1993Arg) c.5975A>G (p.Lys1992Arg) | gnomAD v4 |
| 2 | g.71679108A>T | CA347226318 | DYSF | c.3350A>T (p.Lys1117Met) c.2567A>T (p.Lys856Met) c.2675A>T (p.Lys892Met) c.5819A>T (p.Lys1940Met) c.5936A>T (p.Lys1979Met) c.5822A>T (p.Lys1941Met) c.5885A>T (p.Lys1962Met) c.5933A>T (p.Lys1978Met) c.5915A>T (p.Lys1972Met) c.5843A>T (p.Lys1948Met) c.5870A>T (p.Lys1957Met) c.5873A>T (p.Lys1958Met) c.5912A>T (p.Lys1971Met) c.5882A>T (p.Lys1961Met) n.2704A>T c.5777A>T (p.Lys1926Met) c.5840A>T (p.Lys1947Met) c.5780A>T (p.Lys1927Met) c.5978A>T (p.Lys1993Met) c.5975A>T (p.Lys1992Met) | |
| 2 | g.71679109G>A | CA426704699 | DYSF | c.3351G>A (p.Lys1117=) c.2568G>A (p.Lys856=) c.2676G>A (p.Lys892=) c.5820G>A (p.Lys1940=) c.5937G>A (p.Lys1979=) c.5823G>A (p.Lys1941=) c.5886G>A (p.Lys1962=) c.5934G>A (p.Lys1978=) c.5916G>A (p.Lys1972=) c.5844G>A (p.Lys1948=) c.5871G>A (p.Lys1957=) c.5874G>A (p.Lys1958=) c.5913G>A (p.Lys1971=) c.5883G>A (p.Lys1961=) n.2705G>A c.5778G>A (p.Lys1926=) c.5841G>A (p.Lys1947=) c.5781G>A (p.Lys1927=) c.5979G>A (p.Lys1993=) c.5976G>A (p.Lys1992=) | |
| 2 | g.71679109G>C | CA347226319 | DYSF | c.3351G>C (p.Lys1117Asn) c.2568G>C (p.Lys856Asn) c.2676G>C (p.Lys892Asn) c.5820G>C (p.Lys1940Asn) c.5937G>C (p.Lys1979Asn) c.5823G>C (p.Lys1941Asn) c.5886G>C (p.Lys1962Asn) c.5934G>C (p.Lys1978Asn) c.5916G>C (p.Lys1972Asn) c.5844G>C (p.Lys1948Asn) c.5871G>C (p.Lys1957Asn) c.5874G>C (p.Lys1958Asn) c.5913G>C (p.Lys1971Asn) c.5883G>C (p.Lys1961Asn) n.2705G>C c.5778G>C (p.Lys1926Asn) c.5841G>C (p.Lys1947Asn) c.5781G>C (p.Lys1927Asn) c.5979G>C (p.Lys1993Asn) c.5976G>C (p.Lys1992Asn) | |
| 2 | g.71679109G>T | CA347226320 | DYSF | c.3351G>T (p.Lys1117Asn) c.2568G>T (p.Lys856Asn) c.2676G>T (p.Lys892Asn) c.5820G>T (p.Lys1940Asn) c.5937G>T (p.Lys1979Asn) c.5823G>T (p.Lys1941Asn) c.5886G>T (p.Lys1962Asn) c.5934G>T (p.Lys1978Asn) c.5916G>T (p.Lys1972Asn) c.5844G>T (p.Lys1948Asn) c.5871G>T (p.Lys1957Asn) c.5874G>T (p.Lys1958Asn) c.5913G>T (p.Lys1971Asn) c.5883G>T (p.Lys1961Asn) n.2705G>T c.5778G>T (p.Lys1926Asn) c.5841G>T (p.Lys1947Asn) c.5781G>T (p.Lys1927Asn) c.5979G>T (p.Lys1993Asn) c.5976G>T (p.Lys1992Asn) | |
| 2 | g.71679110A= | CA1260156848 | DYSF | c.3352A= (p.Lys1118=) c.2569A= (p.Lys857=) c.2677A= (p.Lys893=) c.5821A= (p.Lys1941=) c.5938A= (p.Lys1980=) c.5824A= (p.Lys1942=) c.5887A= (p.Lys1963=) c.5935A= (p.Lys1979=) c.5917A= (p.Lys1973=) c.5845A= (p.Lys1949=) c.5872A= (p.Lys1958=) c.5875A= (p.Lys1959=) c.5914A= (p.Lys1972=) c.5884A= (p.Lys1962=) n.2706A= c.5779A= (p.Lys1927=) c.5842A= (p.Lys1948=) c.5782A= (p.Lys1928=) c.5980A= (p.Lys1994=) c.5977A= (p.Lys1993=) | |
| 2 | g.71679110A>C | CA347226321 | DYSF | c.3352A>C (p.Lys1118Gln) c.2569A>C (p.Lys857Gln) c.2677A>C (p.Lys893Gln) c.5821A>C (p.Lys1941Gln) c.5938A>C (p.Lys1980Gln) c.5824A>C (p.Lys1942Gln) c.5887A>C (p.Lys1963Gln) c.5935A>C (p.Lys1979Gln) c.5917A>C (p.Lys1973Gln) c.5845A>C (p.Lys1949Gln) c.5872A>C (p.Lys1958Gln) c.5875A>C (p.Lys1959Gln) c.5914A>C (p.Lys1972Gln) c.5884A>C (p.Lys1962Gln) n.2706A>C c.5779A>C (p.Lys1927Gln) c.5842A>C (p.Lys1948Gln) c.5782A>C (p.Lys1928Gln) c.5980A>C (p.Lys1994Gln) c.5977A>C (p.Lys1993Gln) | |
| 2 | g.71679110A>G | CA347226322 | DYSF | c.3352A>G (p.Lys1118Glu) c.2569A>G (p.Lys857Glu) c.2677A>G (p.Lys893Glu) c.5821A>G (p.Lys1941Glu) c.5938A>G (p.Lys1980Glu) c.5824A>G (p.Lys1942Glu) c.5887A>G (p.Lys1963Glu) c.5935A>G (p.Lys1979Glu) c.5917A>G (p.Lys1973Glu) c.5845A>G (p.Lys1949Glu) c.5872A>G (p.Lys1958Glu) c.5875A>G (p.Lys1959Glu) c.5914A>G (p.Lys1972Glu) c.5884A>G (p.Lys1962Glu) n.2706A>G c.5779A>G (p.Lys1927Glu) c.5842A>G (p.Lys1948Glu) c.5782A>G (p.Lys1928Glu) c.5980A>G (p.Lys1994Glu) c.5977A>G (p.Lys1993Glu) |